#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name	i_deletion_substructures	i_domain	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_name_source	i_gene_type	i_havana_transcript	i_header	i_normal_VAF	i_normal_ref_reads	i_normal_var_reads	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_tier	i_title	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_tumor_VAF	i_tumor_ref_reads	i_tumor_var_reads	i_type	i_ucsc_cons	i_variant
ACAP2	23527	genome.wustl.edu	37	3	195022818	195022818	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr3:195022818G>T	ENST00000326793.6	-	14	1432	c.1202C>A	c.(1201-1203)gCg>gAg	p.A401E		NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	401	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						CCGCTGAAGCGCACTTTCTCC	0.483																																																	0													167.0	180.0	176.0					3																	195022818		2203	4300	6503	SO:0001583	missense	0				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.1202C>A	3.37:g.195022818G>T	ENSP00000324287:p.Ala401Glu		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.A401E	ENST00000326793.6	37	c.1202	CCDS33924.1	3	.	.	.	.	.	.	.	.	.	.	G	33	5.279204	0.95489	.	.	ENSG00000114331	ENST00000326793	T	0.42131	0.98	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.61009	0.2313	M	0.69248	2.105	0.80722	D	1	D	0.56746	0.977	P	0.58331	0.837	T	0.59979	-0.7352	10	0.54805	T	0.06	.	19.174	0.93594	0.0:0.0:1.0:0.0	.	401	Q15057	ACAP2_HUMAN	E	401	ENSP00000324287:A401E	ENSP00000324287:A401E	A	-	2	0	ACAP2	196504107	1.000000	0.71417	0.997000	0.53966	0.933000	0.57130	5.825000	0.69286	2.777000	0.95525	0.591000	0.81541	GCG	ACAP2	-	pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP	ENSG00000114331		0.483	ACAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACAP2	HGNC	protein_coding	OTTHUMT00000342126.2		0.00	37	0	G	NM_012287		195022818	-1			no_errors	ENST00000326793	ensembl	human	known	74_37	missense	6.06	31	2	SNP	1.000	T
ADAM21	8747	genome.wustl.edu	37	14	70926242	70926242	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr14:70926242G>T	ENST00000603540.1	+	2	2284	c.2026G>T	c.(2026-2028)Gca>Tca	p.A676S	RP11-486O13.4_ENST00000556646.1_lincRNA|ADAM21_ENST00000267499.3_Missense_Mutation_p.A676S	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	676					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)		CAGTGGCCCAGCATCTGCAAA	0.493																																																	0													70.0	57.0	61.0					14																	70926242		2203	4300	6503	SO:0001583	missense	0			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.2026G>T	14.37:g.70926242G>T	ENSP00000474385:p.Ala676Ser		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.A676S	ENST00000603540.1	37	c.2026	CCDS9804.1	14	.	.	.	.	.	.	.	.	.	.	G	9.036	0.988409	0.18966	.	.	ENSG00000139985	ENST00000267499	T	0.01185	5.21	4.62	1.64	0.23874	.	0.621864	0.13113	U	0.412813	T	0.01627	0.0052	L	0.50993	1.605	0.24662	N	0.993464	B	0.28933	0.228	B	0.31614	0.133	T	0.42085	-0.9472	10	0.59425	D	0.04	.	7.3366	0.26613	0.1612:0.4297:0.4091:0.0	.	676	Q9UKJ8	ADA21_HUMAN	S	676	ENSP00000267499:A676S	ENSP00000267499:A676S	A	+	1	0	ADAM21	69995995	0.029000	0.19370	0.985000	0.45067	0.759000	0.43091	-0.039000	0.12124	0.226000	0.20979	0.655000	0.94253	GCA	ADAM21	-	NULL	ENSG00000139985		0.493	ADAM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM21	HGNC	protein_coding	OTTHUMT00000413008.3		0.00	67	0	G			70926242	+1			no_errors	ENST00000267499	ensembl	human	known	74_37	missense	6.82	41	3	SNP	0.922	T
AGAP3	116988	genome.wustl.edu	37	7	150819833	150819833	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr7:150819833T>C	ENST00000335367.3	+	9	1783	c.1690T>C	c.(1690-1692)Ttt>Ctt	p.F564L	AGAP3_ENST00000479901.1_Missense_Mutation_p.F331L|AGAP3_ENST00000463381.1_Intron|AGAP3_ENST00000397238.2_Intron|AGAP3_ENST00000473312.1_Missense_Mutation_p.F384L			Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	0	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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						TGTTTCCAACTTTTCATCAAC	0.502																																																	0													98.0	100.0	99.0					7																	150819833		1890	4129	6019	SO:0001583	missense	0			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	ENST00000335367.3:c.1690T>C	7.37:g.150819833T>C	ENSP00000335589:p.Phe564Leu		B3KNZ8|E9PAL8|Q59EN0|Q96RK3	Missense_Mutation	SNP	pfam_MIRO-like,pfam_Small_GTPase,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,prints_Small_GTPase	p.F384L	ENST00000335367.3	37	c.1150		7	.	.	.	.	.	.	.	.	.	.	T	12.41	1.930223	0.34096	.	.	ENSG00000133612	ENST00000473312;ENST00000479901;ENST00000335367;ENST00000468796	D;T;D;T	0.85861	-1.86;1.61;-2.04;1.64	4.03	2.86	0.33363	.	.	.	.	.	T	0.67382	0.2887	N	0.08118	0	0.23975	N	0.996298	B;B;B	0.15141	0.001;0.012;0.001	B;B;B	0.15052	0.001;0.012;0.001	T	0.53704	-0.8401	9	0.20519	T	0.43	.	6.6667	0.23044	0.0:0.1133:0.0:0.8867	.	331;564;384	C9J975;E7ESL9;E9PAL8	.;.;.	L	384;331;564;165	ENSP00000418921:F384L;ENSP00000418125:F331L;ENSP00000335589:F564L;ENSP00000418159:F165L	ENSP00000335589:F564L	F	+	1	0	AGAP3	150450766	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.225000	0.51246	1.595000	0.50050	0.379000	0.24179	TTT	AGAP3	-	NULL	ENSG00000133612		0.502	AGAP3-005	NOVEL	basic	protein_coding	AGAP3	HGNC	protein_coding	OTTHUMT00000351912.1	-	0.00	96	0	T	NM_031946		150819833	+1	tier1	-	no_errors	ENST00000473312	ensembl	human	known	74_37	missense	35.29	55	30	SNP	1.000	C
AHSP	51327	genome.wustl.edu	37	16	31539471	31539471	+	Missense_Mutation	SNP	T	T	A			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr16:31539471T>A	ENST00000302312.4	+	2	114	c.11T>A	c.(10-12)cTt>cAt	p.L4H	AHSP_ENST00000569954.1_Intron	NM_016633.2	NP_057717.1	Q9NZD4	AHSP_HUMAN	alpha hemoglobin stabilizing protein	4					hemoglobin metabolic process (GO:0020027)|hemopoiesis (GO:0030097)|protein folding (GO:0006457)|protein stabilization (GO:0050821)	hemoglobin complex (GO:0005833)	hemoglobin binding (GO:0030492)|unfolded protein binding (GO:0051082)			lung(2)	2						ATGGCTCTTCTTAAGGCCAAT	0.473																																																	0													114.0	111.0	112.0					16																	31539471		2197	4300	6497	SO:0001583	missense	0			AF208865	CCDS10716.1	16p11.1	2009-10-07	2009-10-07	2009-10-07	ENSG00000169877	ENSG00000169877			18075	protein-coding gene	gene with protein product	"""alpha hemoglobin stabilising protein"""	605821	"""erythroid associated factor"""	ERAF		11231637, 12066189	Standard	XM_005255352		Approved	EDRF	uc002ecj.3	Q9NZD4	OTTHUMG00000132461	ENST00000302312.4:c.11T>A	16.37:g.31539471T>A	ENSP00000307199:p.Leu4His		Q8TD01	Missense_Mutation	SNP	pfam_A_Hb_stabilising_prot,superfamily_A_Hb_stabilising_prot	p.L4H	ENST00000302312.4	37	c.11	CCDS10716.1	16	.	.	.	.	.	.	.	.	.	.	T	15.21	2.766564	0.49574	.	.	ENSG00000169877	ENST00000302312	T	0.70399	-0.48	5.47	5.47	0.80525	.	0.395325	0.21608	N	0.071837	T	0.71143	0.3305	L	0.27053	0.805	0.30345	N	0.78533	D	0.61697	0.99	P	0.58454	0.839	T	0.72207	-0.4360	10	0.87932	D	0	.	11.9337	0.52862	0.0:0.0:0.0:1.0	.	4	Q9NZD4	AHSP_HUMAN	H	4	ENSP00000307199:L4H	ENSP00000307199:L4H	L	+	2	0	AHSP	31446972	1.000000	0.71417	0.778000	0.31720	0.079000	0.17450	3.358000	0.52284	2.074000	0.62210	0.455000	0.32223	CTT	AHSP	-	superfamily_A_Hb_stabilising_prot	ENSG00000169877		0.473	AHSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AHSP	HGNC	protein_coding	OTTHUMT00000255624.1	-	0.00	43	0	T	NM_016633		31539471	+1	tier1	-	no_errors	ENST00000302312	ensembl	human	known	74_37	missense	24.24	25	8	SNP	0.960	A
AKR1CL1	340811	genome.wustl.edu	37	10	5199923	5199923	+	5'UTR	SNP	G	G	T			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr10:5199923G>T	ENST00000465430.1	-	0	141							Q5T2L2	AKCL1_HUMAN	aldo-keto reductase family 1, member C-like 1							cytoplasm (GO:0005737)	oxidoreductase activity (GO:0016491)			cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6						GGGCGACCTGGCCTGGGCTTC	0.572																																					Ovarian(129;1623 1737 25446 28757 47467)												0																																										SO:0001623	5_prime_UTR_variant	0					10p15.2	2014-05-06			ENSG00000196326	ENSG00000264006			23469	protein-coding gene	gene with protein product						15164054	Standard	NR_027916		Approved		uc009xhz.2	Q5T2L2	OTTHUMG00000184213	ENST00000465430.1:c.-1386C>A	10.37:g.5199923G>T			A6NF66|Q6ZN81	Silent	SNP	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr	p.G81	ENST00000465430.1	37	c.243		10																																																																																			AKR1CL1	-	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr	ENSG00000196326		0.572	AKR1CL1-003	KNOWN	basic	processed_transcript	AKR1CL1	HGNC	protein_coding	OTTHUMT00000356488.1	-	0.00	54	0	G	NR_027916		5199923	-1	tier1	-	no_errors	ENST00000473890	ensembl	human	novel	74_37	silent	5.41	70	4	SNP	0.332	T
ALOX5AP	241	genome.wustl.edu	37	13	31338241	31338241	+	Nonstop_Mutation	SNP	T	T	A			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr13:31338241T>A	ENST00000380490.3	+	5	582	c.484T>A	c.(484-486)Taa>Aaa	p.*162K		NM_001204406.1|NM_001629.3	NP_001191335.1|NP_001620.2	P20292	AL5AP_HUMAN	arachidonate 5-lipoxygenase-activating protein	0					arachidonic acid metabolic process (GO:0019369)|cellular response to calcium ion (GO:0071277)|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)|positive regulation of acute inflammatory response (GO:0002675)|protein homotrimerization (GO:0070207)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)	arachidonic acid binding (GO:0050544)|enzyme activator activity (GO:0008047)|protein N-terminus binding (GO:0047485)			endometrium(1)|large_intestine(1)|ovary(1)|prostate(1)	4		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0187)|Epithelial(112;0.0803)|OV - Ovarian serous cystadenocarcinoma(117;0.0864)		TCTCATTCCCTAACTCTCTGC	0.403																																																	0													179.0	156.0	164.0					13																	31338241		2203	4300	6503	SO:0001578	stop_lost	0			AH001462	CCDS9337.1, CCDS73558.1	13q12	2008-07-18			ENSG00000132965	ENSG00000132965			436	protein-coding gene	gene with protein product	"""five-lipoxygenase activating protein"", ""MK-886-binding protein"""	603700				1673682, 10036194	Standard	NM_001629		Approved	FLAP	uc010tdr.2	P20292	OTTHUMG00000016677	ENST00000380490.3:c.484T>A	13.37:g.31338241T>A	ENSP00000369858:p.*162Lysext*12		Q5VV04	Nonstop_Mutation	SNP	pfam_Membr-assoc_MAPEG,prints_5_LipOase_AP	p.*162K	ENST00000380490.3	37	c.484	CCDS9337.1	13	.	.	.	.	.	.	.	.	.	.	T	12.28	1.889293	0.33348	.	.	ENSG00000132965	ENST00000380490	.	.	.	5.14	5.14	0.70334	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9521	0.71083	0.0:0.0:0.0:1.0	.	.	.	.	K	162	.	.	X	+	1	0	ALOX5AP	30236241	0.977000	0.34250	0.830000	0.32933	0.285000	0.27093	7.442000	0.80503	1.939000	0.56221	0.533000	0.62120	TAA	ALOX5AP	-	NULL	ENSG00000132965		0.403	ALOX5AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALOX5AP	HGNC	protein_coding	OTTHUMT00000044372.1	-	0.00	87	0	T	NM_001629		31338241	+1	tier1	-	no_errors	ENST00000380490	ensembl	human	known	74_37	nonstop	66.67	20	40	SNP	0.989	A
ANKRD33B	651746	genome.wustl.edu	37	5	10649560	10649560	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr5:10649560G>A	ENST00000296657.5	+	4	820	c.820G>A	c.(820-822)Gcg>Acg	p.A274T		NM_001164440.1	NP_001157912.1	A6NCL7	AN33B_HUMAN	ankyrin repeat domain 33B	274																	GCGGAAGCCCGCGGGCTCCAA	0.726																																																	0													2.0	3.0	3.0					5																	10649560		471	1250	1721	SO:0001583	missense	0				CCDS47191.1	5p15.2	2013-01-10			ENSG00000164236	ENSG00000164236		"""Ankyrin repeat domain containing"""	35240	protein-coding gene	gene with protein product							Standard	NM_001164440		Approved		uc021xwp.1	A6NCL7	OTTHUMG00000162050	ENST00000296657.5:c.820G>A	5.37:g.10649560G>A	ENSP00000296657:p.Ala274Thr			Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.A274T	ENST00000296657.5	37	c.820	CCDS47191.1	5	.	.	.	.	.	.	.	.	.	.	G	0.233	-1.019881	0.02078	.	.	ENSG00000164236	ENST00000296657	T	0.41400	1.0	5.45	-2.55	0.06288	.	0.682813	0.15433	N	0.262637	T	0.18964	0.0455	N	0.21097	0.63	0.09310	N	1	.	.	.	.	.	.	T	0.25537	-1.0129	8	0.12430	T	0.62	-14.1317	2.4696	0.04561	0.1654:0.0955:0.317:0.4221	.	.	.	.	T	274	ENSP00000296657:A274T	ENSP00000296657:A274T	A	+	1	0	ANKRD33B	10702560	0.000000	0.05858	0.000000	0.03702	0.249000	0.25844	-0.445000	0.06845	-1.008000	0.03404	-0.181000	0.13052	GCG	ANKRD33B	-	NULL	ENSG00000164236		0.726	ANKRD33B-001	NOVEL	not_best_in_genome_evidence|basic|appris_principal|exp_conf|CCDS	protein_coding	ANKRD33B	HGNC	protein_coding	OTTHUMT00000367037.3	-	0.00	32	0	G	XM_001130634		10649560	+1	tier1	-	no_errors	ENST00000296657	ensembl	human	novel	74_37	missense	70.83	7	17	SNP	0.000	A
ANO5	203859	genome.wustl.edu	37	11	22279255	22279255	+	Silent	SNP	G	G	A			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr11:22279255G>A	ENST00000324559.8	+	14	1679	c.1362G>A	c.(1360-1362)acG>acA	p.T454T		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	454					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						CTCTATACACGCGTATTCCAT	0.373																																																	0													163.0	153.0	156.0					11																	22279255		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1362G>A	11.37:g.22279255G>A				Silent	SNP	pfam_Anoctamin	p.T454	ENST00000324559.8	37	c.1362	CCDS31444.1	11																																																																																			ANO5	-	pfam_Anoctamin	ENSG00000171714		0.373	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANO5	HGNC	protein_coding	OTTHUMT00000387615.1	-	0.00	69	0	G	NM_213599		22279255	+1	tier1	-	no_errors	ENST00000324559	ensembl	human	known	74_37	silent	26.60	69	25	SNP	0.038	A
DPH6	89978	genome.wustl.edu	37	15	35530357	35530357	+	Intron	DEL	T	T	-	rs141813373		TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr15:35530357delT	ENST00000560386.1	-	4	200				ANP32AP1_ENST00000560832.1_RNA			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)										CTGAAACTTATTTTTTTTTCT	0.458																																																	0																																										SO:0001627	intron_variant	0				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	ENST00000560386.1:c.3239-17574A>-	15.37:g.35530357delT			B3KWG1|Q96HJ6	RNA	DEL	-	NULL	ENST00000560386.1	37	NULL		15																																																																																			ANP32AP1	-	-	ENSG00000259516		0.458	DPH6-003	KNOWN	basic	processed_transcript	ANP32AP1	HGNC	protein_coding	OTTHUMT00000417824.1		0.00	41	0	T	NM_080650		35530357	+1	tier1		no_errors	ENST00000560832	ensembl	human	known	74_37	rna	6.25	30	2	DEL	0.996	-
ANXA5	308	genome.wustl.edu	37	4	122607522	122607522	+	Silent	SNP	G	G	T			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr4:122607522G>T	ENST00000296511.5	-	3	300	c.15C>A	c.(13-15)ctC>ctA	p.L5L	ANXA5_ENST00000515017.1_Silent_p.L5L|ANXA5_ENST00000501272.2_Intron|ANXA5_ENST00000509016.1_5'UTR	NM_001154.3	NP_001145.1	P08758	ANXA5_HUMAN	annexin A5	5					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						CAGTGCCTCTGAGAACCTAAT	0.403																																					Pancreas(191;1279 2147 16046 17806 52646)|GBM(88;628 1285 16585 32846 50188)												0													89.0	86.0	87.0					4																	122607522		2203	4300	6503	SO:0001819	synonymous_variant	0			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.15C>A	4.37:g.122607522G>T			D3DNW7|Q6FHB3|Q6FI16|Q8WV69|Q9UDH9	Silent	SNP	pfam_Annexin_repeat,smart_Annexin_repeat,prints_Annexin,prints_AnnexinV,prints_AnnexinIV	p.L5	ENST00000296511.5	37	c.15	CCDS3720.1	4																																																																																			ANXA5	-	NULL	ENSG00000164111		0.403	ANXA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANXA5	HGNC	protein_coding	OTTHUMT00000256636.2	-	0.00	42	0	G	NM_001154		122607522	-1	tier1	-	no_errors	ENST00000296511	ensembl	human	known	74_37	silent	12.00	22	3	SNP	0.199	T
APC	324	genome.wustl.edu	37	5	112174268	112174268	+	Missense_Mutation	SNP	A	A	C			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr5:112174268A>C	ENST00000457016.1	+	16	3357	c.2977A>C	c.(2977-2979)Aag>Cag	p.K993Q	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Missense_Mutation_p.K993Q|APC_ENST00000257430.4_Missense_Mutation_p.K993Q			P25054	APC_HUMAN	adenomatous polyposis coli	993	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.K993fs*11(1)|p.K993fs*1(1)|p.?(1)|p.K993*(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)		TGATGAAAGTAAGTTTTGCAG	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)|Insertion - Frameshift(1)|Deletion - Frameshift(1)	large_intestine(3)|skin(1)	GRCh37	CM056294	APC	M							86.0	81.0	83.0					5																	112174268		2202	4300	6502	SO:0001583	missense	0	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.2977A>C	5.37:g.112174268A>C	ENSP00000413133:p.Lys993Gln		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.K993Q	ENST00000457016.1	37	c.2977	CCDS4107.1	5	.	.	.	.	.	.	.	.	.	.	A	17.00	3.276317	0.59649	.	.	ENSG00000134982	ENST00000457016;ENST00000507379;ENST00000257430;ENST00000508376;ENST00000512211	D;D;D;D;D	0.94457	-2.71;-3.43;-2.71;-2.71;-2.89	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.93436	0.7906	L	0.47716	1.5	0.48395	D	0.999644	D;P	0.54207	0.965;0.956	P;P	0.49799	0.622;0.543	D	0.93154	0.6552	10	0.51188	T	0.08	-24.7215	11.958	0.52993	0.9305:0.0:0.0695:0.0	.	995;993	Q4LE70;P25054	.;APC_HUMAN	Q	993;975;993;993;993	ENSP00000413133:K993Q;ENSP00000423224:K975Q;ENSP00000257430:K993Q;ENSP00000427089:K993Q;ENSP00000423828:K993Q	ENSP00000257430:K993Q	K	+	1	0	APC	112202167	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.948000	0.75965	2.201000	0.70794	0.533000	0.62120	AAG	APC	-	NULL	ENSG00000134982		0.348	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	APC	HGNC	protein_coding	OTTHUMT00000250738.2	-	0.00	49	0	A	NM_000038		112174268	+1	tier1	-	no_errors	ENST00000257430	ensembl	human	known	74_37	missense	29.55	31	13	SNP	1.000	C
ARAP2	116984	genome.wustl.edu	37	4	36212335	36212335	+	Silent	SNP	G	G	A	rs538850005		TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr4:36212335G>A	ENST00000303965.4	-	6	1653	c.1164C>T	c.(1162-1164)agC>agT	p.S388S		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	388					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						CCTTGTCCTCGCTTATTTTCT	0.338													G|||	1	0.000199681	0.0	0.0	5008	,	,		18462	0.001		0.0	False		,,,				2504	0.0																0													118.0	125.0	123.0					4																	36212335		2202	4300	6502	SO:0001819	synonymous_variant	0			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.1164C>T	4.37:g.36212335G>A			Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Silent	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.S388	ENST00000303965.4	37	c.1164	CCDS3441.1	4																																																																																			ARAP2	-	NULL	ENSG00000047365		0.338	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARAP2	HGNC	protein_coding	OTTHUMT00000215074.2	-	0.00	23	0	G	NM_015230		36212335	-1	tier1	-	no_errors	ENST00000303965	ensembl	human	known	74_37	silent	16.67	25	5	SNP	0.810	A
ARHGAP20	57569	genome.wustl.edu	37	11	110501395	110501395	+	Silent	SNP	C	C	T			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr11:110501395C>T	ENST00000260283.4	-	4	593	c.309G>A	c.(307-309)cgG>cgA	p.R103R	ARHGAP20_ENST00000528829.1_Silent_p.R67R|ARHGAP20_ENST00000357139.3_Silent_p.R77R|ARHGAP20_ENST00000533353.1_Silent_p.R77R|ARHGAP20_ENST00000527598.1_Silent_p.R67R|ARHGAP20_ENST00000524756.1_Silent_p.R80R	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	103	PH.				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.R103R(1)		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)		GGAAAAGATGCCGCTCCTGCC	0.398																																																	1	Substitution - coding silent(1)	kidney(1)											84.0	88.0	87.0					11																	110501395		2201	4298	6499	SO:0001819	synonymous_variant	0			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.309G>A	11.37:g.110501395C>T			A8K8C5|B0YIW7|B0YIW8|Q6RJU1|Q6RJU2|Q6RJU3|Q6RJU5|Q8IXS1	Silent	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.R103	ENST00000260283.4	37	c.309	CCDS31673.1	11																																																																																			ARHGAP20	-	smart_Pleckstrin_homology	ENSG00000137727		0.398	ARHGAP20-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGAP20	HGNC	protein_coding	OTTHUMT00000390628.1		0.00	46	0	C	NM_020809		110501395	-1			no_errors	ENST00000260283	ensembl	human	known	74_37	silent	6.00	47	3	SNP	0.635	T
ARHGEF10L	55160	genome.wustl.edu	37	1	18021674	18021674	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr1:18021674C>T	ENST00000361221.3	+	28	3365	c.3206C>T	c.(3205-3207)aCc>aTc	p.T1069I	ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.T1030I|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.T842I|ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.T772I|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.T1030I	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	1069						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)		TTGTGTGTCACCAGCCTCCTG	0.632																																																	0													94.0	90.0	91.0					1																	18021674		2203	4300	6503	SO:0001583	missense	0			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.3206C>T	1.37:g.18021674C>T	ENSP00000355060:p.Thr1069Ile		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.T1069I	ENST00000361221.3	37	c.3206	CCDS182.1	1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.943819	0.73672	.	.	ENSG00000074964	ENST00000361221;ENST00000452522;ENST00000375415;ENST00000375408;ENST00000457829;ENST00000167825	T;T;T;T;T	0.38077	1.16;1.16;1.16;1.16;1.16	4.87	4.87	0.63330	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.129178	0.50627	D	0.000102	T	0.63141	0.2486	M	0.87682	2.9	0.49051	D	0.999742	P;P;P;D;D;P;P	0.58620	0.955;0.893;0.946;0.971;0.983;0.842;0.846	P;B;P;P;P;P;B	0.61328	0.774;0.409;0.668;0.846;0.887;0.603;0.398	T	0.71126	-0.4683	10	0.87932	D	0	-36.9391	16.7403	0.85457	0.0:1.0:0.0:0.0	.	842;842;772;830;1025;1030;1069	Q5VXI4;B4DTL3;Q9HCE6-4;B3KX74;Q9HCE6-3;Q9HCE6-2;Q9HCE6	.;.;.;.;.;.;ARGAL_HUMAN	I	1069;1030;1030;842;842;772	ENSP00000355060:T1069I;ENSP00000399401:T1030I;ENSP00000364564:T1030I;ENSP00000364557:T842I;ENSP00000167825:T772I	ENSP00000167825:T772I	T	+	2	0	ARHGEF10L	17894261	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	4.366000	0.59492	2.505000	0.84491	0.563000	0.77884	ACC	ARHGEF10L	-	superfamily_WD40_repeat_dom	ENSG00000074964		0.632	ARHGEF10L-001	KNOWN	basic|CCDS	protein_coding	ARHGEF10L	HGNC	protein_coding	OTTHUMT00000007147.1		0.00	77	0	C	NM_018125		18021674	+1			no_errors	ENST00000361221	ensembl	human	known	74_37	missense	6.06	62	4	SNP	1.000	T
ARID2	196528	genome.wustl.edu	37	12	46211623	46211623	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr12:46211623delC	ENST00000334344.6	+	5	761	c.589delC	c.(589-591)cctfs	p.P197fs	ARID2_ENST00000422737.1_Frame_Shift_Del_p.P48fs	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	197					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)		TGAAAAAGATCCTAAAATCAT	0.348			"""N, S, F"""		hepatocellular carcinoma																																			Rec	yes		12	12q12	196528	AT rich interactive domain 2		E	0													77.0	69.0	72.0					12																	46211623		2203	4300	6503	SO:0001589	frameshift_variant	0				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.589delC	12.37:g.46211623delC	ENSP00000335044:p.Pro197fs		Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Frame_Shift_Del	DEL	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.P197fs	ENST00000334344.6	37	c.589	CCDS31783.1	12																																																																																			ARID2	-	NULL	ENSG00000189079		0.348	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID2	HGNC	protein_coding	OTTHUMT00000318380.2		0.00	27	0	C	XM_350875		46211623	+1	tier1		no_errors	ENST00000334344	ensembl	human	known	74_37	frame_shift_del	79.17	5	19	DEL	1.000	-
ASXL3	80816	genome.wustl.edu	37	18	31326085	31326085	+	Silent	SNP	C	C	T			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr18:31326085C>T	ENST00000269197.5	+	12	6273	c.6273C>T	c.(6271-6273)agC>agT	p.S2091S		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	2091					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						AAGGTTTAAGCAGCAGCTGTG	0.413																																																	0													99.0	99.0	99.0					18																	31326085		1862	4104	5966	SO:0001819	synonymous_variant	0			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.6273C>T	18.37:g.31326085C>T			Q6ZMX6|Q96MU3|Q9UFC5	Silent	SNP	superfamily_Znf_FYVE_PHD	p.S2091	ENST00000269197.5	37	c.6273	CCDS45847.1	18																																																																																			ASXL3	-	NULL	ENSG00000141431		0.413	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ASXL3	HGNC	protein_coding	OTTHUMT00000441865.2		0.00	29	0	C			31326085	+1			no_errors	ENST00000269197	ensembl	human	known	74_37	silent	9.68	28	3	SNP	1.000	T
ATXN3	4287	genome.wustl.edu	37	14	92563080	92563080	+	Missense_Mutation	SNP	C	C	G			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr14:92563080C>G	ENST00000532032.1	-	2	136	c.127G>C	c.(127-129)Gag>Cag	p.E43Q	ATXN3_ENST00000503767.1_Missense_Mutation_p.E43Q|ATXN3_ENST00000545170.1_Missense_Mutation_p.E43Q|ATXN3_ENST00000340660.6_Intron|ATXN3_ENST00000502250.1_Intron|ATXN3_ENST00000554491.1_5'UTR|ATXN3_ENST00000393287.5_Missense_Mutation_p.E43Q|ATXN3_ENST00000429774.2_Missense_Mutation_p.E43Q			P54252	ATX3_HUMAN	ataxin 3	43	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)		ATCCTCTCCTCCTCATCCAGC	0.393																																					Esophageal Squamous(190;752 2094 29897 44875 49530)												0													189.0	151.0	164.0					14																	92563080		2203	4300	6503	SO:0001583	missense	0			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.127G>C	14.37:g.92563080C>G	ENSP00000437157:p.Glu43Gln		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.E43Q	ENST00000532032.1	37	c.127		14	.	.	.	.	.	.	.	.	.	.	C	15.63	2.890953	0.52014	.	.	ENSG00000066427	ENST00000545278;ENST00000539555;ENST00000537884;ENST00000545170;ENST00000447800;ENST00000359819;ENST00000393289;ENST00000429774;ENST00000539454;ENST00000393287;ENST00000503767;ENST00000532032;ENST00000554592;ENST00000553491;ENST00000506466	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	5.67	5.67	0.87782	.	0.045213	0.85682	D	0.000000	T	0.43277	0.1240	L	0.39898	1.24	0.47698	D	0.999497	B;B;B	0.29671	0.254;0.202;0.232	B;B;B	0.39660	0.183;0.306;0.215	T	0.28170	-1.0052	10	0.38643	T	0.18	.	15.3347	0.74241	0.0:0.8608:0.1392:0.0	.	43;43;43	P54252;E9PB63;P54252-2	ATX3_HUMAN;.;.	Q	43;43;43;43;43;43;43;43;42;43;43;43;43;43;43	ENSP00000445618:E43Q;ENSP00000389376:E43Q;ENSP00000376965:E43Q;ENSP00000426697:E43Q;ENSP00000437157:E43Q;ENSP00000451385:E43Q;ENSP00000451996:E43Q;ENSP00000435571:E43Q	ENSP00000352324:E43Q	E	-	1	0	ATXN3	91632833	1.000000	0.71417	0.990000	0.47175	0.437000	0.31866	5.798000	0.69095	2.700000	0.92200	0.549000	0.68633	GAG	ATXN3	-	pfam_Josephin,pfscan_Josephin	ENSG00000066427		0.393	ATXN3-015	KNOWN	basic	protein_coding	ATXN3	HGNC	protein_coding	OTTHUMT00000388065.1	-	0.00	48	0	C	NM_004993		92563080	-1	tier1	-	no_errors	ENST00000545170	ensembl	human	known	74_37	missense	5.97	62	4	SNP	1.000	G
BACH1	571	genome.wustl.edu	37	21	30714989	30714989	+	Silent	SNP	C	C	T			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr21:30714989C>T	ENST00000399921.1	+	5	2289	c.2046C>T	c.(2044-2046)ccC>ccT	p.P682P	BACH1_ENST00000286800.3_Silent_p.P682P	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						TGCTGCCTCCCTGTGCCAGAG	0.527																																																	0													56.0	60.0	59.0					21																	30714989		2203	4300	6503	SO:0001819	synonymous_variant	0			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.2046C>T	21.37:g.30714989C>T			Q3MJE2|Q8NCI5	Silent	SNP	pfam_BTB_POZ,pfam_bZIP,superfamily_BTB/POZ_fold,superfamily_TF_DNA-bd,smart_BTB/POZ-like,smart_bZIP,pfscan_BTB/POZ-like,pfscan_bZIP	p.P682	ENST00000399921.1	37	c.2046	CCDS13585.1	21																																																																																			BACH1	-	NULL	ENSG00000156273		0.527	BACH1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BACH1	HGNC	protein_coding	OTTHUMT00000171974.1	-	0.00	28	0	C	NM_206866		30714989	+1	tier1	-	no_errors	ENST00000286800	ensembl	human	known	74_37	silent	29.41	12	5	SNP	0.008	T
BIRC2	329	genome.wustl.edu	37	11	102233653	102233653	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr11:102233653G>A	ENST00000227758.2	+	4	2421	c.1022G>A	c.(1021-1023)gGc>gAc	p.G341D	BIRC2_ENST00000532672.1_Missense_Mutation_p.G320D|BIRC2_ENST00000527910.1_3'UTR|BIRC2_ENST00000530675.1_Missense_Mutation_p.G292D	NM_001166.4|NM_001256163.1	NP_001157.1|NP_001243092.1	Q13490	BIRC2_HUMAN	baculoviral IAP repeat containing 2	341					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)		CGAATGAAAGGCCAAGAGTTT	0.274																																																	0													89.0	93.0	92.0					11																	102233653		2202	4299	6501	SO:0001583	missense	0			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.1022G>A	11.37:g.102233653G>A	ENSP00000227758:p.Gly341Asp		B4E026|Q16516|Q4TTG0	Missense_Mutation	SNP	pfam_BIR,pfam_CARD,superfamily_DEATH-like_dom,smart_BIR,smart_CARD,smart_Znf_RING,pfscan_CARD,pfscan_BIR,pfscan_Znf_RING	p.G341D	ENST00000227758.2	37	c.1022	CCDS8316.1	11	.	.	.	.	.	.	.	.	.	.	G	14.74	2.624519	0.46840	.	.	ENSG00000110330	ENST00000530675;ENST00000533742;ENST00000227758;ENST00000541741;ENST00000532672	T;T;T;T	0.26373	3.67;1.74;3.67;3.67	5.31	4.36	0.52297	Baculoviral inhibition of apoptosis protein repeat (1);	0.000000	0.85682	D	0.000000	T	0.56558	0.1993	M	0.88031	2.925	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.65492	-0.6155	10	0.87932	D	0	-22.9788	14.2722	0.66157	0.0:0.0:0.8507:0.1493	.	341	Q13490	BIRC2_HUMAN	D	292;3;341;341;320	ENSP00000431723:G292D;ENSP00000433851:G3D;ENSP00000227758:G341D;ENSP00000434979:G320D	ENSP00000227758:G341D	G	+	2	0	BIRC2	101738863	1.000000	0.71417	0.951000	0.38953	0.013000	0.08279	5.579000	0.67457	2.491000	0.84063	0.561000	0.74099	GGC	BIRC2	-	NULL	ENSG00000110330		0.274	BIRC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BIRC2	HGNC	protein_coding	OTTHUMT00000394170.1	-	0.00	31	0	G	NM_001166		102233653	+1	tier1	-	no_errors	ENST00000227758	ensembl	human	known	74_37	missense	31.43	24	11	SNP	0.982	A
BIVM	54841	genome.wustl.edu	37	13	103473443	103473443	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr13:103473443C>A	ENST00000257336.1	+	5	1341	c.662C>A	c.(661-663)tCt>tAt	p.S221Y	BIVM-ERCC5_ENST00000602836.1_Missense_Mutation_p.F192L|BIVM_ENST00000448849.2_De_novo_Start_OutOfFrame|RNY5P8_ENST00000410369.1_RNA|BIVM_ENST00000419638.1_Missense_Mutation_p.S221Y	NM_017693.3	NP_060163.2	Q86UB2	BIVM_HUMAN	basic, immunoglobulin-like variable motif containing	221						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)					TCATTAATTTCTTGTTGGAAT	0.363																																																	0													180.0	185.0	183.0					13																	103473443		2203	4300	6503	SO:0001583	missense	0			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.662C>A	13.37:g.103473443C>A	ENSP00000257336:p.Ser221Tyr		Q2M1J2|Q9NXM4	Missense_Mutation	SNP	NULL	p.S221Y	ENST00000257336.1	37	c.662	CCDS9505.1	13	.	.	.	.	.	.	.	.	.	.	C	26.3	4.729124	0.89390	.	.	ENSG00000134897;ENSG00000134897;ENSG00000134899	ENST00000257336;ENST00000419638;ENST00000418659	.	.	.	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.79528	0.4461	M	0.71036	2.16	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.997	T	0.81422	-0.0940	9	0.87932	D	0	.	18.7922	0.91978	0.0:1.0:0.0:0.0	.	192;221	Q59FZ7;Q86UB2	.;BIVM_HUMAN	Y	221;221;192	.	ENSP00000257336:S221Y	S	+	2	0	ERCC5;BIVM	102271444	1.000000	0.71417	0.998000	0.56505	0.973000	0.67179	7.165000	0.77544	2.539000	0.85634	0.561000	0.74099	TCT	BIVM	-	NULL	ENSG00000134897		0.363	BIVM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	BIVM	HGNC	protein_coding	OTTHUMT00000045704.2	-	0.00	62	0	C			103473443	+1	tier1	-	no_errors	ENST00000257336	ensembl	human	known	74_37	missense	62.00	19	31	SNP	1.000	A
BRINP1	1620	genome.wustl.edu	37	9	122075482	122075482	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr9:122075482G>T	ENST00000265922.3	-	2	613	c.152C>A	c.(151-153)tCc>tAc	p.S51Y	BRINP1_ENST00000373964.2_Missense_Mutation_p.S51Y	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	51					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)		p.S51Y(1)									GTAGCTCCTGGAGTGGTGGAA	0.483																																																	1	Substitution - Missense(1)	lung(1)											99.0	96.0	97.0					9																	122075482		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.152C>A	9.37:g.122075482G>T	ENSP00000265922:p.Ser51Tyr		Q6IPV6|Q6P1A0|Q8WU22	Missense_Mutation	SNP	pfam_MACPF,smart_MACPF	p.S51Y	ENST00000265922.3	37	c.152	CCDS6822.1	9	.	.	.	.	.	.	.	.	.	.	G	17.09	3.299644	0.60195	.	.	ENSG00000078725	ENST00000373969;ENST00000265922;ENST00000373964	D;D	0.86865	-2.18;-2.18	5.26	5.26	0.73747	Membrane attack complex component/perforin (MACPF) domain (1);	0.000000	0.85682	D	0.000000	D	0.92159	0.7514	L	0.55990	1.75	0.80722	D	1	D;D	0.67145	0.994;0.996	D;D	0.77557	0.983;0.99	D	0.92846	0.6293	10	0.87932	D	0	-20.1299	18.859	0.92265	0.0:0.0:1.0:0.0	.	51;51	O60477-2;O60477	.;DBC1_HUMAN	Y	51	ENSP00000265922:S51Y;ENSP00000363075:S51Y	ENSP00000265922:S51Y	S	-	2	0	DBC1	121115303	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.473000	0.83533	0.561000	0.74099	TCC	BRINP1	-	pfam_MACPF	ENSG00000078725		0.483	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRINP1	HGNC	protein_coding	OTTHUMT00000055440.2		0.00	47	0	G	NM_014618		122075482	-1			no_errors	ENST00000265922	ensembl	human	known	74_37	missense	6.25	30	2	SNP	1.000	T
BTAF1	9044	genome.wustl.edu	37	10	93778666	93778666	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr10:93778666G>A	ENST00000265990.6	+	34	5145	c.4837G>A	c.(4837-4839)Gcc>Acc	p.A1613T	BTAF1_ENST00000544642.1_Missense_Mutation_p.A441T	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	1613					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)				TATTCAACATGCCCCTAAGCT	0.373																																																	0													147.0	138.0	141.0					10																	93778666		2203	4300	6503	SO:0001583	missense	0			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.4837G>A	10.37:g.93778666G>A	ENSP00000265990:p.Ala1613Thr		B4E0W6|O43578	Missense_Mutation	SNP	pfam_DUF3535,pfam_SNF2_N,pfam_HEAT,pfam_Helicase_C,superfamily_ARM-type_fold,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.A1613T	ENST00000265990.6	37	c.4837	CCDS7419.1	10	.	.	.	.	.	.	.	.	.	.	G	36	5.719235	0.96839	.	.	ENSG00000095564	ENST00000265990;ENST00000544642;ENST00000538688	T;T	0.75367	-0.93;-0.93	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	D	0.87513	0.6196	M	0.90309	3.105	0.80722	D	1	D	0.67145	0.996	P	0.57620	0.824	D	0.89704	0.3907	10	0.87932	D	0	-9.1631	19.7838	0.96428	0.0:0.0:1.0:0.0	.	1613	O14981	BTAF1_HUMAN	T	1613;441;463	ENSP00000265990:A1613T;ENSP00000439924:A441T	ENSP00000265990:A1613T	A	+	1	0	BTAF1	93768646	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.827000	0.99397	2.666000	0.90696	0.557000	0.71058	GCC	BTAF1	-	superfamily_P-loop_NTPase	ENSG00000095564		0.373	BTAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTAF1	HGNC	protein_coding	OTTHUMT00000049380.4	-	0.00	52	0	G	NM_003972		93778666	+1	tier1	-	no_errors	ENST00000265990	ensembl	human	known	74_37	missense	8.00	46	4	SNP	1.000	A
C12orf54	121273	genome.wustl.edu	37	12	48882278	48882279	+	Intron	INS	-	-	AC	rs67325885|rs200977170|rs77875864	byFrequency	TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr12:48882278_48882279insAC	ENST00000548364.1	+	4	192				C12orf54_ENST00000548913.1_3'UTR|RP11-722P11.4_ENST00000551847.1_RNA|C12orf54_ENST00000314014.2_Intron			Q6X4T0	CL054_HUMAN	chromosome 12 open reading frame 54											endometrium(1)|large_intestine(4)	5						AAAAAAAAAAAGAAAGAAAGAA	0.332																																																	0																																										SO:0001627	intron_variant	0			BC031670	CCDS8764.1	12q13.11	2011-01-31			ENSG00000177627	ENSG00000177627			28553	protein-coding gene	gene with protein product						12477932	Standard	NM_152319		Approved	MGC35033	uc001rrr.3	Q6X4T0	OTTHUMG00000170019	ENST00000548364.1:c.136-428->AC	12.37:g.48882278_48882279insAC			Q6X4S9|Q8N5S2	RNA	INS	-	NULL	ENST00000548364.1	37	NULL	CCDS8764.1	12																																																																																			C12orf54	-	-	ENSG00000177627		0.332	C12orf54-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	C12orf54	HGNC	protein_coding	OTTHUMT00000406875.1		0.00	13	0	-	NM_152319		48882279	+1	tier1		no_errors	ENST00000548913	ensembl	human	known	74_37	rna	22.50	31	9	INS	0.033:0.007	AC
C18orf42	642597	genome.wustl.edu	37	18	5145754	5145754	+	Splice_Site	SNP	C	C	T	rs138717602	byFrequency	TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr18:5145754C>T	ENST00000434239.3	-	2	188	c.17G>A	c.(16-18)gGt>gAt	p.G6D	C18orf42_ENST00000580650.1_Splice_Site_p.G13D	NM_001145194.1	NP_001138666.1	P0CW23	CR042_HUMAN	chromosome 18 open reading frame 42	6																	AGGTTTCTCACCTAGCCAAAA	0.468																																																	0													48.0	42.0	44.0					18																	5145754		692	1591	2283	SO:0001630	splice_region_variant	0				CCDS54179.1	18p11.31	2012-10-24			ENSG00000231824	ENSG00000231824			28285	protein-coding gene	gene with protein product							Standard	NM_001145194		Approved		uc010wzc.1	P0CW23	OTTHUMG00000178457	ENST00000434239.3:c.17-1G>A	18.37:g.5145754C>T				Missense_Mutation	SNP	pfam_Kinase-A_anchor_RI-RII-bd_dom	p.G6D	ENST00000434239.3	37	c.17	CCDS54179.1	18	.	.	.	.	.	.	.	.	.	.	C	17.08	3.298892	0.60195	.	.	ENSG00000231824	ENST00000434239	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	D	0.83658	0.5302	.	.	.	0.44702	D	0.997698	D	0.89917	1.0	D	0.91635	0.999	D	0.84934	0.0861	7	0.66056	D	0.02	.	19.6468	0.95779	0.0:1.0:0.0:0.0	.	6	P0CW23	CR042_HUMAN	D	6	.	ENSP00000399075:G6D	G	-	2	0	C18orf42	5135754	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.284000	0.65627	2.639000	0.89480	0.655000	0.94253	GGT	C18orf42	-	NULL	ENSG00000231824		0.468	C18orf42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C18orf42	HGNC	protein_coding	OTTHUMT00000442071.1	-	0.00	37	0	C	NM_001145194	Missense_Mutation	5145754	-1	tier1	-	no_errors	ENST00000434239	ensembl	human	known	74_37	missense	48.72	20	19	SNP	1.000	T
C19orf68	374920	genome.wustl.edu	37	19	48698086	48698086	+	Silent	SNP	G	G	A			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr19:48698086G>A	ENST00000328759.7	+	4	797	c.765G>A	c.(763-765)gcG>gcA	p.A255A	ZNF114_ENST00000597695.1_Intron|CARD8_ENST00000600800.1_Intron			Q86XI8	CS068_HUMAN	chromosome 19 open reading frame 68	255					hematopoietic progenitor cell differentiation (GO:0002244)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)											CGGGCCGTGCGCGCCAGGCTG	0.761																																																	0																																										SO:0001819	synonymous_variant	0			BC043386	CCDS74411.1	19q13.32	2008-08-06			ENSG00000185453	ENSG00000185453			34495	protein-coding gene	gene with protein product						12477932	Standard	NM_199341		Approved	LOC374920	uc002pic.3	Q86XI8		ENST00000328759.7:c.765G>A	19.37:g.48698086G>A				Silent	SNP	NULL	p.A255	ENST00000328759.7	37	c.765		19																																																																																			C19orf68	-	NULL	ENSG00000185453		0.761	C19orf68-001	KNOWN	non_canonical_other|basic|appris_principal	protein_coding	C19orf68	HGNC	protein_coding	OTTHUMT00000465598.1		0.00	41	0	G	XM_001713770		48698086	+1			no_errors	ENST00000328759	ensembl	human	known	74_37	silent	38.46	31	20	SNP	0.702	A
PRR34	55267	genome.wustl.edu	37	22	46449698	46449698	+	Silent	SNP	C	C	A			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr22:46449698C>A	ENST00000396008.2	-	1	326	c.276G>T	c.(274-276)cgG>cgT	p.R92R	RP6-109B7.3_ENST00000445441.1_RNA|C22orf26_ENST00000333761.1_Silent_p.R92R|RP6-109B7.3_ENST00000416202.1_RNA|RP6-109B7.3_ENST00000451166.1_RNA|RP6-109B7.2_ENST00000439423.1_lincRNA|FLJ27365_ENST00000381051.2_5'Flank|RP6-109B7.5_ENST00000608644.1_RNA			Q9NV39	PRR34_HUMAN		92													Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.0784)|LUAD - Lung adenocarcinoma(64;0.247)		AGGCTCGCCGCCGAGCTCGGG	0.746																																																	0													3.0	4.0	4.0					22																	46449698		1551	3379	4930	SO:0001819	synonymous_variant	0																														ENST00000396008.2:c.276G>T	22.37:g.46449698C>A			B0QZ24	Silent	SNP	NULL	p.R92	ENST00000396008.2	37	c.276	CCDS14071.1	22																																																																																			C22orf26	-	NULL	ENSG00000182257		0.746	C22orf26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C22orf26	HGNC	protein_coding	OTTHUMT00000317994.1		0.00	29	0	C			46449698	-1			no_errors	ENST00000333761	ensembl	human	known	74_37	silent	25.00	15	5	SNP	0.997	A
C4orf50	389197	genome.wustl.edu	37	4	5990473	5990473	+	5'Flank	SNP	C	C	T	rs567969253	byFrequency	TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr4:5990473C>T	ENST00000324058.5	-	0	0				C4orf50_ENST00000531445.1_Silent_p.E342E			Q6ZRC1	CD050_HUMAN	chromosome 4 open reading frame 50											breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1)	15						TGACTTCCCTCTCCAGGACAT	0.537																																																	0																																										SO:0001631	upstream_gene_variant	0			BC140710		4p16.1	2009-04-14			ENSG00000181215	ENSG00000181215			33766	protein-coding gene	gene with protein product							Standard	XM_003119922		Approved	FLJ46481		Q6ZRC1	OTTHUMG00000149971		4.37:g.5990473C>T	Exception_encountered			Silent	SNP	NULL	p.E342	ENST00000324058.5	37	c.1026		4																																																																																			C4orf50	-	NULL	ENSG00000181215		0.537	C4orf50-201	KNOWN	basic|appris_candidate	protein_coding	C4orf50	HGNC	protein_coding		-	0.00	51	0	C	NM_207405		5990473	-1	tier1	-	no_errors	ENST00000531445	ensembl	human	known	74_37	silent	22.58	24	7	SNP	0.176	T
C7orf72	100130988	genome.wustl.edu	37	7	50135836	50135836	+	Missense_Mutation	SNP	A	A	C			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr7:50135836A>C	ENST00000297001.6	+	1	205	c.155A>C	c.(154-156)aAc>aCc	p.N52T	ZPBP_ENST00000046087.2_5'Flank	NM_001161834.2	NP_001155306	A4D263	CG072_HUMAN	chromosome 7 open reading frame 72	52										NS(1)|breast(1)|endometrium(2)|kidney(1)|lung(1)|ovary(1)|prostate(2)	9						AACAGACATAACTATGGCAGG	0.373																																																	0													86.0	86.0	86.0					7																	50135836		692	1591	2283	SO:0001583	missense	0				CCDS47585.1	7p12.2	2009-10-15			ENSG00000164500	ENSG00000164500			22564	protein-coding gene	gene with protein product							Standard	NM_001161834		Approved		uc011kcj.2	A4D263	OTTHUMG00000155883	ENST00000297001.6:c.155A>C	7.37:g.50135836A>C	ENSP00000297001:p.Asn52Thr		A6NDX9	Missense_Mutation	SNP	NULL	p.N52T	ENST00000297001.6	37	c.155	CCDS47585.1	7	.	.	.	.	.	.	.	.	.	.	A	11.65	1.702233	0.30232	.	.	ENSG00000164500	ENST00000297001	.	.	.	5.68	3.2	0.36748	.	.	.	.	.	T	0.23410	0.0566	L	0.38175	1.15	0.09310	N	1	P	0.34724	0.465	B	0.31101	0.124	T	0.12218	-1.0556	7	.	.	.	.	4.8898	0.13721	0.7093:0.0:0.1535:0.1372	.	52	A4D263	CG072_HUMAN	T	52	.	.	N	+	2	0	C7orf72	50106382	0.001000	0.12720	0.291000	0.24904	0.941000	0.58515	1.079000	0.30766	0.979000	0.38497	0.402000	0.26972	AAC	C7orf72	-	NULL	ENSG00000164500		0.373	C7orf72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C7orf72	HGNC	protein_coding	OTTHUMT00000342124.1	-	0.00	67	0	A	NM_001161834		50135836	+1	tier1	-	no_errors	ENST00000297001	ensembl	human	known	74_37	missense	43.84	41	32	SNP	0.020	C
C9orf156	51531	genome.wustl.edu	37	9	100684711	100684711	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr9:100684711G>A	ENST00000375119.3	-	1	141	c.65C>T	c.(64-66)gCt>gTt	p.A22V	C9orf156_ENST00000478126.1_5'UTR	NM_016481.3	NP_057565.3	Q9BU70	NAP1_HUMAN	chromosome 9 open reading frame 156	22					viral process (GO:0016032)		hydrolase activity (GO:0016787)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)	13		Acute lymphoblastic leukemia(62;0.158)				TGTCTCCAGAGCCGGCTTAAC	0.642											OREG0019350	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													31.0	28.0	29.0					9																	100684711		2199	4291	6490	SO:0001583	missense	0			AK023069	CCDS6730.1	9q31.1	2011-03-02			ENSG00000136932	ENSG00000136932			30967	protein-coding gene	gene with protein product	"""Nef (lentivirus myristoylated factor) associated protein 1"""						Standard	NM_016481		Approved	HSPC219, NAP1	uc004axv.1	Q9BU70	OTTHUMG00000021007	ENST00000375119.3:c.65C>T	9.37:g.100684711G>A	ENSP00000364260:p.Ala22Val	1353	Q5T113|Q86SK0|Q9NXJ7|Q9P0Q7	Missense_Mutation	SNP	pfam_UPF0066,superfamily_UPF0066_YaeB,tigrfam_UPF0066	p.A22V	ENST00000375119.3	37	c.65	CCDS6730.1	9	.	.	.	.	.	.	.	.	.	.	g	11.46	1.644737	0.29246	.	.	ENSG00000136932	ENST00000375119;ENST00000375117;ENST00000455506	T;T;T	0.54071	1.6;0.64;0.59	4.32	3.42	0.39159	.	0.351261	0.26072	N	0.026516	T	0.36331	0.0963	L	0.27053	0.805	0.47584	D	0.999469	B	0.27853	0.191	B	0.23275	0.045	T	0.20840	-1.0263	10	0.44086	T	0.13	-2.4514	9.859	0.41103	0.0:0.0:0.7954:0.2046	.	22	Q9BU70	NAP1_HUMAN	V	22;21;20	ENSP00000364260:A22V;ENSP00000364258:A21V;ENSP00000408473:A20V	ENSP00000364258:A21V	A	-	2	0	C9orf156	99724532	0.926000	0.31397	0.391000	0.26233	0.194000	0.23727	1.844000	0.39269	1.181000	0.42912	-0.196000	0.12772	GCT	C9orf156	-	NULL	ENSG00000136932		0.642	C9orf156-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf156	HGNC	protein_coding	OTTHUMT00000055401.1	-	0.00	153	0	G	NM_016481		100684711	-1	tier1	-	no_errors	ENST00000375119	ensembl	human	known	74_37	missense	63.57	46	82	SNP	0.579	A
CA11	770	genome.wustl.edu	37	19	49142863	49142863	+	Missense_Mutation	SNP	T	T	G			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr19:49142863T>G	ENST00000084798.4	-	6	1262	c.583A>C	c.(583-585)Aac>Cac	p.N195H	SEC1P_ENST00000430145.2_RNA|DBP_ENST00000601104.1_5'Flank|DBP_ENST00000222122.5_5'Flank	NM_001217.3	NP_001208.2	O75493	CAH11_HUMAN	carbonic anhydrase XI	195						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)	AGGAATGGGTTAGAGGTACTG	0.607																																																	0													172.0	144.0	153.0					19																	49142863		2203	4300	6503	SO:0001583	missense	0			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.583A>C	19.37:g.49142863T>G	ENSP00000084798:p.Asn195His		O60596|Q6FHI1|Q9UEC4	Missense_Mutation	SNP	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	p.N195H	ENST00000084798.4	37	c.583	CCDS12729.1	19	.	.	.	.	.	.	.	.	.	.	T	15.56	2.870715	0.51695	.	.	ENSG00000063180	ENST00000084798	T	0.68181	-0.31	3.62	3.62	0.41486	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.000000	0.85682	D	0.000000	T	0.70753	0.3260	L	0.37630	1.12	0.51012	D	0.999901	D	0.76494	0.999	D	0.76071	0.987	T	0.72577	-0.4251	10	0.87932	D	0	.	8.8201	0.35020	0.0:0.0:0.0:1.0	.	195	O75493	CAH11_HUMAN	H	195	ENSP00000084798:N195H	ENSP00000084798:N195H	N	-	1	0	CA11	53834675	1.000000	0.71417	0.998000	0.56505	0.488000	0.33401	5.983000	0.70540	1.668000	0.50843	0.374000	0.22700	AAC	CA11	-	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	ENSG00000063180		0.607	CA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CA11	HGNC	protein_coding	OTTHUMT00000466172.1	-	0.00	54	0	T	NM_001217		49142863	-1	tier1	-	no_errors	ENST00000084798	ensembl	human	known	74_37	missense	9.09	50	5	SNP	0.999	G
CABIN1	23523	genome.wustl.edu	37	22	24479285	24479285	+	Silent	SNP	C	C	T			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr22:24479285C>T	ENST00000398319.2	+	20	3238	c.2853C>T	c.(2851-2853)taC>taT	p.Y951Y	CABIN1_ENST00000405822.2_Silent_p.Y901Y|CABIN1_ENST00000263119.5_Silent_p.Y951Y	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	951					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						ACTGCCTGTACAGCTTCCCCA	0.572																																																	0													90.0	75.0	80.0					22																	24479285		2203	4300	6503	SO:0001819	synonymous_variant	0			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.2853C>T	22.37:g.24479285C>T			G5E9F3|Q6PHY0|Q9Y460	Silent	SNP	pfam_MEF2_binding,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.Y951	ENST00000398319.2	37	c.2853	CCDS13823.1	22																																																																																			CABIN1	-	NULL	ENSG00000099991		0.572	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CABIN1	HGNC	protein_coding	OTTHUMT00000320161.2	-	0.00	25	0	C	NM_012295		24479285	+1	tier1	-	no_errors	ENST00000263119	ensembl	human	known	74_37	silent	16.67	15	3	SNP	0.999	T
CAPN11	11131	genome.wustl.edu	37	6	44145038	44145038	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr6:44145038G>T	ENST00000398776.1	+	12	1335	c.1297G>T	c.(1297-1299)Gat>Tat	p.D433Y	CAPN11_ENST00000542245.1_Missense_Mutation_p.D433Y	NM_007058.3	NP_008989.2	Q9UMQ6	CAN11_HUMAN	calpain 11	433	Domain III.				proteolysis (GO:0006508)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|peptidase activity (GO:0008233)			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	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)			TGACCCAGAGGATGACGCAGA	0.602																																																	0													34.0	38.0	37.0					6																	44145038		2132	4252	6384	SO:0001583	missense	0			AJ242832	CCDS47436.1	6p12	2013-01-10			ENSG00000137225	ENSG00000137225		"""EF-hand domain containing"""	1478	protein-coding gene	gene with protein product		604822				10409436	Standard	NM_007058		Approved		uc003owt.1	Q9UMQ6	OTTHUMG00000014758	ENST00000398776.1:c.1297G>T	6.37:g.44145038G>T	ENSP00000381758:p.Asp433Tyr		B2RA64|Q5T3G1|Q8N4R5	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_dom,pfscan_EF_hand_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.D433Y	ENST00000398776.1	37	c.1297	CCDS47436.1	6	.	.	.	.	.	.	.	.	.	.	G	13.69	2.312930	0.40895	.	.	ENSG00000137225	ENST00000398776;ENST00000542245	D;D	0.88046	-2.33;-2.33	1.84	0.955	0.19602	Peptidase C2, calpain, large subunit, domain III (2);Peptidase C2, calpain, domain III (1);	0.877750	0.09764	N	0.758868	T	0.76062	0.3935	L	0.36672	1.1	0.29919	N	0.822885	P;P	0.45634	0.863;0.863	P;P	0.49387	0.609;0.548	T	0.65973	-0.6038	10	0.87932	D	0	.	6.3103	0.21161	0.1734:0.0:0.8266:0.0	.	87;433	B4DT90;Q9UMQ6	.;CAN11_HUMAN	Y	433	ENSP00000381758:D433Y;ENSP00000441078:D433Y	ENSP00000381758:D433Y	D	+	1	0	CAPN11	44253016	0.018000	0.18449	0.140000	0.22221	0.036000	0.12997	-0.006000	0.12833	0.343000	0.23821	0.561000	0.74099	GAT	CAPN11	-	pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Calpain_III	ENSG00000137225		0.602	CAPN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CAPN11	HGNC	protein_coding	OTTHUMT00000040714.3	-	0.00	26	0	G			44145038	+1	tier1	-	no_errors	ENST00000398776	ensembl	human	known	74_37	missense	12.12	29	4	SNP	0.902	T
CASP5	838	genome.wustl.edu	37	11	104878041	104878041	+	Frame_Shift_Del	DEL	T	T	-	rs144697764		TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr11:104878041delT	ENST00000260315.3	-	3	201	c.202delA	c.(202-204)acafs	p.T68fs	CASP5_ENST00000393139.2_Frame_Shift_Del_p.T35fs|CASP5_ENST00000444749.2_Frame_Shift_Del_p.T10fs|CASP5_ENST00000393141.2_Frame_Shift_Del_p.T81fs|CASP5_ENST00000526056.1_Frame_Shift_Del_p.T81fs|CASP5_ENST00000531367.1_Intron|CASP5_ENST00000418434.1_Intron			P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	68	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				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)	p.T52fs*26(1)		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)		ATCTTAACTGTTTTTTTTTTG	0.358																																																	1	Deletion - Frameshift(1)	ovary(1)							,,,	386,251,42,3585		1,0,1,383,0,0,251,0,41,1455	104.0	101.0	102.0		,,,	-2.3	0.0	11	dbSNP_132	106	651,407,1,7195		0,0,0,651,0,0,407,0,1,3068	no	codingComplex,codingComplex,intron,codingComplex	CASP5	NM_004347.3,NM_001136112.1,NM_001136110.1,NM_001136109.1	,,,	1,0,1,1034,0,0,658,0,42,4523	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		12.8301,15.924,13.884	,,,	,,,	104878041	1037,658,43,10780	2202	4299	6501	SO:0001589	frameshift_variant	0				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.202delA	11.37:g.104878041delT	ENSP00000260315:p.Thr68fs		B4DKP5|Q0QVY7|Q0QVY8|Q0QVZ0|Q0QVZ1|Q0QVZ2|Q14DD6|Q1HBJ3|Q6DJV7	Frame_Shift_Del	DEL	pfam_Pept_C14_caspase,pfam_CARD,superfamily_DEATH-like_dom,smart_CARD,smart_Pept_C14A_p45_core,pirsf_Caspase_IL-1_beta,pfscan_CARD,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core	p.T81fs	ENST00000260315.3	37	c.241	CCDS8328.2	11																																																																																			CASP5	-	pfam_CARD,superfamily_DEATH-like_dom,smart_CARD,pirsf_Caspase_IL-1_beta,pfscan_CARD	ENSG00000137757		0.358	CASP5-001	KNOWN	basic|CCDS	protein_coding	CASP5	HGNC	protein_coding	OTTHUMT00000109397.2		0.00	41	0	T	NM_004347		104878041	-1	tier1		no_errors	ENST00000393141	ensembl	human	known	74_37	frame_shift_del	9.30	39	4	DEL	0.000	-
CC2D2A	57545	genome.wustl.edu	37	4	15565108	15565108	+	Nonsense_Mutation	SNP	C	C	T	rs386833750		TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr4:15565108C>T	ENST00000503292.1	+	25	3325	c.3145C>T	c.(3145-3147)Cga>Tga	p.R1049*	RP11-799M12.2_ENST00000609724.1_RNA|CC2D2A_ENST00000389652.5_Nonsense_Mutation_p.R1000*|CC2D2A_ENST00000424120.1_Nonsense_Mutation_p.R1049*|CC2D2A_ENST00000413206.1_Nonsense_Mutation_p.R1049*	NM_001080522.2	NP_001073991.2	Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A	1049					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						GAACATTGTGCGAGCTTACGA	0.547																																																	0													71.0	77.0	75.0					4																	15565108		2065	4202	6267	SO:0001587	stop_gained	0			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.3145C>T	4.37:g.15565108C>T	ENSP00000421809:p.Arg1049*		A6ND97|B3FW08|D6RB72|E7EP21|E9PEV5|Q3SYP3|Q9H8A7	Nonsense_Mutation	SNP	superfamily_C2_dom,smart_C2_dom	p.R1049*	ENST00000503292.1	37	c.3145	CCDS47026.1	4	.	.	.	.	.	.	.	.	.	.	C	19.51	3.841960	0.71488	.	.	ENSG00000048342	ENST00000424120;ENST00000413206;ENST00000426932;ENST00000510333;ENST00000503292;ENST00000389652	.	.	.	5.41	3.35	0.38373	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.0664	0.59036	0.4022:0.5978:0.0:0.0	.	.	.	.	X	1049;1049;1000;1000;1049;1000	.	ENSP00000374303:R1000X	R	+	1	2	CC2D2A	15174206	0.997000	0.39634	0.997000	0.53966	0.046000	0.14306	2.490000	0.45294	1.376000	0.46267	0.561000	0.74099	CGA	CC2D2A	-	superfamily_C2_dom,smart_C2_dom	ENSG00000048342		0.547	CC2D2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CC2D2A	HGNC	protein_coding	OTTHUMT00000359906.2		0.00	37	0	C	NM_001080522		15565108	+1			no_errors	ENST00000413206	ensembl	human	known	74_37	nonsense	5.56	34	2	SNP	0.994	T
CASP6	839	genome.wustl.edu	37	4	110610548	110610548	+	Nonsense_Mutation	SNP	G	G	A			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr4:110610548G>A	ENST00000265164.2	-	7	897	c.820C>T	c.(820-822)Cag>Tag	p.Q274*	CASP6_ENST00000510324.1_5'UTR|AC004067.5_ENST00000608733.1_RNA|CASP6_ENST00000352981.3_Nonsense_Mutation_p.Q185*	NM_001226.3	NP_001217.2	P55212	CASP6_HUMAN	caspase 6, apoptosis-related cysteine peptidase	274					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)		CAGGGAACCTGCTTCTTTCCA	0.398																																																	0													77.0	83.0	81.0					4																	110610548		2203	4300	6503	SO:0001587	stop_gained	0			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.820C>T	4.37:g.110610548G>A	ENSP00000265164:p.Gln274*		Q9BQE7	Nonsense_Mutation	SNP	pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core	p.Q274*	ENST00000265164.2	37	c.820	CCDS3684.1	4	.	.	.	.	.	.	.	.	.	.	G	37	6.128596	0.97310	.	.	ENSG00000138794	ENST00000352981;ENST00000265164	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	.	.	.	X	185;274	.	ENSP00000265164:Q274X	Q	-	1	0	CASP6	110829997	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.307000	0.96226	2.941000	0.99782	0.655000	0.94253	CAG	CASP6	-	pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core,pfscan_Pept_C14_p10	ENSG00000138794		0.398	CASP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASP6	HGNC	protein_coding	OTTHUMT00000254866.1	-	0.00	59	0	G	NM_001226		110610548	-1	tier1	-	no_errors	ENST00000265164	ensembl	human	known	74_37	nonsense	28.57	40	16	SNP	1.000	A
CCDC126	90693	genome.wustl.edu	37	7	23650854	23650855	+	5'UTR	INS	-	-	T	rs182881031	byFrequency	TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr7:23650854_23650855insT	ENST00000307471.3	+	0	377_378				CCDC126_ENST00000409765.1_5'UTR|CCDC126_ENST00000486109.1_3'UTR|CCDC126_ENST00000410069.1_5'UTR	NM_138771.3	NP_620126.2	Q96EE4	CC126_HUMAN	coiled-coil domain containing 126						protein N-linked glycosylation (GO:0006487)	extracellular region (GO:0005576)|membrane (GO:0016020)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)			endometrium(3)|kidney(1)|large_intestine(1)|ovary(1)|skin(1)	7						ATATTTTTTTCTTTTTTTTTTC	0.287																																																	0																																										SO:0001623	5_prime_UTR_variant	0			BC012427	CCDS5384.1	7p15.3	2006-08-15			ENSG00000169193	ENSG00000169193			22398	protein-coding gene	gene with protein product						12477932	Standard	NM_138771		Approved	FLJ23031	uc003swl.3	Q96EE4	OTTHUMG00000128461	ENST00000307471.3:c.-80->T	7.37:g.23650864_23650864dupT			A8K1J6|Q6UWP1|Q75MQ6	RNA	INS	-	NULL	ENST00000307471.3	37	NULL	CCDS5384.1	7																																																																																			CCDC126	-	-	ENSG00000169193		0.287	CCDC126-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC126	HGNC	protein_coding	OTTHUMT00000250259.1		0.00	24	0	-	NM_138771		23650855	+1	tier1		no_errors	ENST00000486109	ensembl	human	putative	74_37	rna	12.50	28	4	INS	0.001:0.020	T
CCDC175	729665	genome.wustl.edu	37	14	59978519	59978519	+	Nonsense_Mutation	SNP	G	G	A			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr14:59978519G>A	ENST00000537690.2	-	18	2156	c.2101C>T	c.(2101-2103)Caa>Taa	p.Q701*	CCDC175_ENST00000281581.4_Nonsense_Mutation_p.Q701*|RP11-701B16.2_ENST00000554253.1_RNA	NM_001164399.1	NP_001157871.1	P0C221	CC175_HUMAN	coiled-coil domain containing 175	701																	TCCTTATATTGTGCTAAAATA	0.279																																																	0													52.0	45.0	47.0					14																	59978519		692	1591	2283	SO:0001587	stop_gained	0				CCDS53898.1	14q23.1	2012-09-24	2012-09-24	2012-09-24	ENSG00000151838	ENSG00000151838			19847	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 38"""	C14orf38			Standard	NM_001164399		Approved		uc021rtw.1	P0C221		ENST00000537690.2:c.2101C>T	14.37:g.59978519G>A	ENSP00000453940:p.Gln701*		G3V5J7	Nonsense_Mutation	SNP	superfamily_Prefoldin	p.Q701*	ENST00000537690.2	37	c.2101	CCDS53898.1	14	.	.	.	.	.	.	.	.	.	.	G	18.75	3.690855	0.68271	.	.	ENSG00000151838	ENST00000555041	.	.	.	4.1	1.17	0.20885	.	1.345120	0.04980	N	0.465533	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	0.521	5.1646	0.15079	0.0989:0.0:0.5408:0.3603	.	.	.	.	X	701	.	ENSP00000281581:Q701X	Q	-	1	0	C14orf38	59048272	0.022000	0.18835	0.002000	0.10522	0.001000	0.01503	0.264000	0.18497	0.253000	0.21552	0.655000	0.94253	CAA	CCDC175	-	NULL	ENSG00000151838		0.279	CCDC175-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC175	HGNC	protein_coding	OTTHUMT00000471273.1	-	0.00	72	0	G	NM_001164399		59978519	-1	tier1	-	no_errors	ENST00000281581	ensembl	human	known	74_37	nonsense	5.33	71	4	SNP	0.005	A
CCP110	9738	genome.wustl.edu	37	16	19556498	19556498	+	Missense_Mutation	SNP	G	G	A	rs142274455		TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr16:19556498G>A	ENST00000381396.5	+	10	2916	c.2669G>A	c.(2668-2670)cGa>cAa	p.R890Q	CCP110_ENST00000396208.2_Missense_Mutation_p.R890Q|CCP110_ENST00000396212.2_Missense_Mutation_p.R890Q	NM_001199022.1	NP_001185951	O43303	CP110_HUMAN	centriolar coiled coil protein 110kDa	890					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						CATCATGATCGAGAAGTTCGC	0.373																																																	0								G	GLN/ARG,GLN/ARG	0,4392		0,0,2196	108.0	98.0	102.0		2669,2669	5.5	1.0	16	dbSNP_134	102	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	CCP110	NM_001199022.1,NM_014711.4	43,43	0,2,6494	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging	890/1013,890/992	19556498	2,12990	2196	4300	6496	SO:0001583	missense	0			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.2669G>A	16.37:g.19556498G>A	ENSP00000370803:p.Arg890Gln		B7WP23|O43335|Q68DV9|Q8NE13	Missense_Mutation	SNP	NULL	p.R890Q	ENST00000381396.5	37	c.2669	CCDS55992.1	16	.	.	.	.	.	.	.	.	.	.	G	34	5.321074	0.95682	0.0	2.33E-4	ENSG00000103540	ENST00000396212;ENST00000381396;ENST00000396208	T;T;T	0.67345	-0.25;-0.26;-0.25	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	D	0.83644	0.5299	M	0.81942	2.565	0.52501	D	0.999956	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.85431	0.1149	10	0.87932	D	0	-11.2185	19.4895	0.95044	0.0:0.0:1.0:0.0	.	890;890	O43303;O43303-2	CP110_HUMAN;.	Q	890	ENSP00000379515:R890Q;ENSP00000370803:R890Q;ENSP00000379511:R890Q	ENSP00000370803:R890Q	R	+	2	0	CCP110	19463999	1.000000	0.71417	0.980000	0.43619	0.994000	0.84299	7.619000	0.83057	2.596000	0.87737	0.655000	0.94253	CGA	CCP110	-	NULL	ENSG00000103540		0.373	CCP110-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCP110	HGNC	protein_coding	OTTHUMT00000254284.2		0.00	38	0	G	NM_014711		19556498	+1			no_errors	ENST00000381396	ensembl	human	known	74_37	missense	5.71	33	2	SNP	1.000	A
CDAN1	146059	genome.wustl.edu	37	15	43016780	43016780	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr15:43016780A>G	ENST00000356231.3	-	28	3616	c.3593T>C	c.(3592-3594)cTg>cCg	p.L1198P		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	1198					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)		GGCTAGAAACAGATTAGACAG	0.502																																																	0													36.0	33.0	34.0					15																	43016780		2153	4187	6340	SO:0001583	missense	0			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.3593T>C	15.37:g.43016780A>G	ENSP00000348564:p.Leu1198Pro		Q6NYD0|Q7Z7L5|Q969N3	Missense_Mutation	SNP	NULL	p.L1198P	ENST00000356231.3	37	c.3593	CCDS32209.1	15	.	.	.	.	.	.	.	.	.	.	A	13.40	2.225573	0.39300	.	.	ENSG00000140326	ENST00000356231;ENST00000267892	D	0.88664	-2.41	6.07	4.94	0.65067	.	0.297356	0.28290	N	0.015889	D	0.91791	0.7403	L	0.51422	1.61	0.48975	D	0.999737	D;D	0.89917	0.999;1.0	D;D	0.91635	0.974;0.999	D	0.91458	0.5187	10	0.72032	D	0.01	-4.0784	10.1101	0.42557	0.9234:0.0:0.0766:0.0	.	1198;1196	Q8IWY9;C9K0H8	CDAN1_HUMAN;.	P	1198;1196	ENSP00000348564:L1198P	ENSP00000267892:L1196P	L	-	2	0	CDAN1	40804072	0.933000	0.31639	0.456000	0.27044	0.025000	0.11179	3.567000	0.53813	1.108000	0.41662	0.533000	0.62120	CTG	CDAN1	-	NULL	ENSG00000140326		0.502	CDAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDAN1	HGNC	protein_coding	OTTHUMT00000431103.1		0.00	67	0	A	XM_085300		43016780	-1			no_errors	ENST00000356231	ensembl	human	known	74_37	missense	5.26	54	3	SNP	0.668	G
CDCA5	113130	genome.wustl.edu	37	11	64847073	64847073	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr11:64847073G>A	ENST00000275517.3	-	5	602	c.430C>T	c.(430-432)Cgt>Tgt	p.R144C	CDCA5_ENST00000404147.3_Missense_Mutation_p.R144C	NM_080668.3	NP_542399.1	Q96FF9	CDCA5_HUMAN	cell division cycle associated 5	144					double-strand break repair (GO:0006302)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid cohesion (GO:0007064)|regulation of cohesin localization to chromatin (GO:0071922)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						CTGTAGGAACGCCTGACTTTC	0.632																																																	0													29.0	31.0	30.0					11																	64847073		2200	4297	6497	SO:0001583	missense	0			BG354578	CCDS8091.1	11q13.1	2011-01-31			ENSG00000146670	ENSG00000146670			14626	protein-coding gene	gene with protein product	"""sororin"""	609374				12188893, 15837422	Standard	NM_080668		Approved		uc001ocp.2	Q96FF9	OTTHUMG00000150420	ENST00000275517.3:c.430C>T	11.37:g.64847073G>A	ENSP00000275517:p.Arg144Cys		A8K625	Missense_Mutation	SNP	pfam_Sororin	p.R144C	ENST00000275517.3	37	c.430	CCDS8091.1	11	.	.	.	.	.	.	.	.	.	.	G	21.3	4.131791	0.77662	.	.	ENSG00000146670	ENST00000275517;ENST00000404147	T;T	0.50277	0.75;0.75	5.55	3.67	0.42095	.	0.107102	0.64402	D	0.000004	T	0.64918	0.2642	M	0.73598	2.24	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	T	0.65446	-0.6166	10	0.87932	D	0	.	8.931	0.35670	0.0788:0.0:0.7732:0.148	.	144	Q96FF9	CDCA5_HUMAN	C	144	ENSP00000275517:R144C;ENSP00000385711:R144C	ENSP00000275517:R144C	R	-	1	0	CDCA5	64603649	0.998000	0.40836	0.913000	0.36048	0.945000	0.59286	3.718000	0.54919	0.687000	0.31509	0.650000	0.86243	CGT	CDCA5	-	pfam_Sororin	ENSG00000146670		0.632	CDCA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDCA5	HGNC	protein_coding	OTTHUMT00000385186.1	-	0.00	41	0	G	NM_080668		64847073	-1	tier1	-	no_errors	ENST00000275517	ensembl	human	known	74_37	missense	19.23	42	10	SNP	0.993	A
CDKN2A	1029	genome.wustl.edu	37	9	21974724	21974724	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr9:21974724C>T	ENST00000304494.5	-	1	373	c.103G>A	c.(103-105)Ggg>Agg	p.G35R	CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000498124.1_Missense_Mutation_p.G35R|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579122.1_Missense_Mutation_p.G35R|CDKN2A_ENST00000446177.1_Missense_Mutation_p.G35R|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000530628.2_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	35			G -> A (in CMM2; also found in a biliary tract tumor and a patient with uveal melanoma; partial loss of CDK4 binding). {ECO:0000269|PubMed:8595405}.|G -> E (in CMM2). {ECO:0000269|PubMed:8595405}.|G -> V (in CMM2; loss of CDK4 binding). {ECO:0000269|PubMed:19260062}.		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.?(23)|p.L32_L37del(5)|p.G35R(2)|p.G35fs*13(1)|p.0(1)|p.V28_V51del(1)|p.E33fs*8(1)|p.A36fs*8(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)		GGCAGCGCCCCCGCCTCCAGC	0.731		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																																							1350	Whole gene deletion(1316)|Unknown(23)|Deletion - In frame(6)|Deletion - Frameshift(2)|Substitution - Missense(2)|Insertion - Frameshift(1)	haematopoietic_and_lymphoid_tissue(278)|skin(170)|central_nervous_system(163)|lung(147)|urinary_tract(90)|bone(73)|soft_tissue(57)|oesophagus(54)|pleura(52)|upper_aerodigestive_tract(49)|ovary(35)|kidney(31)|pancreas(30)|breast(30)|thyroid(14)|biliary_tract(13)|NS(12)|stomach(12)|autonomic_ganglia(7)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)											31.0	41.0	37.0					9																	21974724		2163	4242	6405	SO:0001583	missense	0			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.103G>A	9.37:g.21974724C>T	ENSP00000307101:p.Gly35Arg		A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Missense_Mutation	SNP	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom	p.G35R	ENST00000304494.5	37	c.103	CCDS6510.1	9	.	.	.	.	.	.	.	.	.	.	C	37	6.516131	0.97629	.	.	ENSG00000147889	ENST00000304494;ENST00000446177	D;D	0.81659	-1.52;-1.52	4.89	4.89	0.63831	Ankyrin repeat-containing domain (3);	.	.	.	.	D	0.92557	0.7636	H	0.94582	3.555	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94347	0.7576	9	0.87932	D	0	.	17.3226	0.87240	0.0:1.0:0.0:0.0	.	35;35	P42771;G3XAG3	CD2A1_HUMAN;.	R	35	ENSP00000307101:G35R;ENSP00000394932:G35R	ENSP00000307101:G35R	G	-	1	0	CDKN2A	21964724	0.850000	0.29656	0.821000	0.32701	0.929000	0.56500	2.935000	0.48963	2.681000	0.91329	0.655000	0.94253	GGG	CDKN2A	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom	ENSG00000147889		0.731	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CDKN2A	HGNC	protein_coding	OTTHUMT00000051915.1		0.00	46	0	C	NM_000077		21974724	-1			no_errors	ENST00000446177	ensembl	human	known	74_37	missense	9.76	37	4	SNP	0.998	T
CELA3A	10136	genome.wustl.edu	37	1	22333419	22333419	+	Silent	SNP	T	T	C	rs138658162	byFrequency	TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr1:22333419T>C	ENST00000290122.3	+	5	430	c.411T>C	c.(409-411)gaT>gaC	p.D137D		NM_005747.4	NP_005738.4	P09093	CEL3A_HUMAN	chymotrypsin-like elastase family, member 3A	137	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						AGCTGGGAGATGCCGTCCAGC	0.637													C|||	16	0.00319489	0.0098	0.0029	5008	,	,		17200	0.0		0.001	False		,,,				2504	0.0																0													115.0	101.0	106.0					1																	22333419		2198	4300	6498	SO:0001819	synonymous_variant	0			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.411T>C	1.37:g.22333419T>C			B1AQ53|Q9BRW4	Silent	SNP	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.D137	ENST00000290122.3	37	c.411	CCDS220.1	1																																																																																			CELA3A	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000142789		0.637	CELA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELA3A	HGNC	protein_coding	OTTHUMT00000007791.1	-	0.00	89	0	T	NM_005747		22333419	+1	tier1	rs138658162	no_errors	ENST00000290122	ensembl	human	known	74_37	silent	22.64	41	12	SNP	0.000	C
CHGA	1113	genome.wustl.edu	37	14	93398760	93398760	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr14:93398760C>T	ENST00000216492.5	+	7	1134	c.854C>T	c.(853-855)gCt>gTt	p.A285V	CHGA_ENST00000334654.4_Missense_Mutation_p.A134V	NM_001275.3	NP_001266.1	P10645	CMGA_HUMAN	chromogranin A (parathyroid secretory protein 1)	285					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)		AAGCCTGGGGCTGAGGAGGCT	0.642																																					Colon(31;154 822 45066 49155)|NSCLC(28;804 1157 13734 25204)												0													31.0	21.0	25.0					14																	93398760		2196	4292	6488	SO:0001583	missense	0				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.854C>T	14.37:g.93398760C>T	ENSP00000216492:p.Ala285Val		B2R9E9|Q53FA8|Q6NR84|Q96E84|Q96GL7|Q9BQB5	Missense_Mutation	SNP	pfam_Granin,prints_Chromogranin_AB	p.A285V	ENST00000216492.5	37	c.854	CCDS9906.1	14	.	.	.	.	.	.	.	.	.	.	C	6.886	0.532964	0.13188	.	.	ENSG00000100604	ENST00000216492;ENST00000334654	T;T	0.01647	4.71;4.71	4.93	2.92	0.33932	.	0.795759	0.11616	N	0.546203	T	0.01905	0.0060	L	0.40543	1.245	0.09310	N	1	B;B	0.12013	0.0;0.005	B;B	0.17722	0.003;0.019	T	0.44772	-0.9306	10	0.34782	T	0.22	-1.0299	4.937	0.13946	0.26:0.629:0.0:0.111	.	134;285	G5E968;P10645	.;CMGA_HUMAN	V	285;134	ENSP00000216492:A285V;ENSP00000334023:A134V	ENSP00000216492:A285V	A	+	2	0	CHGA	92468513	0.082000	0.21442	0.279000	0.24732	0.252000	0.25951	0.390000	0.20768	1.070000	0.40811	-0.263000	0.10527	GCT	CHGA	-	pfam_Granin	ENSG00000100604		0.642	CHGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHGA	HGNC	protein_coding	OTTHUMT00000412411.1	-	0.00	123	0	C	NM_001275		93398760	+1	tier1	-	no_errors	ENST00000216492	ensembl	human	known	74_37	missense	14.13	79	13	SNP	0.028	T
CHST15	51363	genome.wustl.edu	37	10	125771863	125771863	+	Missense_Mutation	SNP	T	T	A			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr10:125771863T>A	ENST00000346248.5	-	7	2123	c.1481A>T	c.(1480-1482)cAg>cTg	p.Q494L	CHST15_ENST00000435907.1_Missense_Mutation_p.Q494L	NM_015892.4	NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	494					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						GTTCAGAAACTGGAAGACCTT	0.507																																																	0													148.0	107.0	121.0					10																	125771863		2203	4300	6503	SO:0001583	missense	0			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.1481A>T	10.37:g.125771863T>A	ENSP00000333947:p.Gln494Leu		O60338|O60474|Q86VM4	Missense_Mutation	SNP	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.Q494L	ENST00000346248.5	37	c.1481	CCDS7638.1	10	.	.	.	.	.	.	.	.	.	.	T	14.25	2.480566	0.44044	.	.	ENSG00000182022	ENST00000346248;ENST00000435907	D;D	0.82711	-1.64;-1.64	5.25	2.9	0.33743	Sulfotransferase domain (1);	0.423696	0.26503	N	0.024009	T	0.73575	0.3604	L	0.38175	1.15	0.80722	D	1	B	0.19706	0.038	B	0.23852	0.049	T	0.65311	-0.6199	10	0.54805	T	0.06	-13.1988	7.3193	0.26517	0.0:0.2591:0.0:0.7409	.	494	Q7LFX5	CHSTF_HUMAN	L	494	ENSP00000333947:Q494L;ENSP00000402394:Q494L	ENSP00000333947:Q494L	Q	-	2	0	CHST15	125761853	1.000000	0.71417	0.996000	0.52242	0.999000	0.98932	2.804000	0.47931	0.315000	0.23110	0.533000	0.62120	CAG	CHST15	-	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	ENSG00000182022		0.507	CHST15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST15	HGNC	protein_coding	OTTHUMT00000050856.1		0.00	51	0	T	NM_015892		125771863	-1			no_errors	ENST00000346248	ensembl	human	known	74_37	missense	8.33	33	3	SNP	0.999	A
CLPTM1L	81037	genome.wustl.edu	37	5	1330411	1330411	+	Missense_Mutation	SNP	A	A	T	rs557678777	byFrequency	TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr5:1330411A>T	ENST00000320895.5	-	9	1321	c.1064T>A	c.(1063-1065)gTt>gAt	p.V355D	CLPTM1L_ENST00000507807.1_Intron|CLPTM1L_ENST00000320927.6_Intron	NM_030782.3	NP_110409.2	Q96KA5	CLP1L_HUMAN	CLPTM1-like	355					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)		GGCGGCTCCAACACCCGCCGG	0.622																																																	0													71.0	64.0	67.0					5																	1330411		2200	4295	6495	SO:0001583	missense	0			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.1064T>A	5.37:g.1330411A>T	ENSP00000313854:p.Val355Asp		D3DTC1|Q658W6|Q7LG29|Q96AZ0|Q9H3N4	Missense_Mutation	SNP	pfam_CLPTM1	p.V355D	ENST00000320895.5	37	c.1064	CCDS3862.1	5	.	.	.	.	.	.	.	.	.	.	A	20.4	3.983219	0.74474	.	.	ENSG00000049656	ENST00000320895	T	0.52057	0.68	4.84	4.84	0.62591	.	0.450872	0.24783	N	0.035635	T	0.60612	0.2282	M	0.65677	2.01	0.80722	D	1	P	0.41643	0.758	P	0.52758	0.708	T	0.64820	-0.6317	10	0.87932	D	0	-5.8683	13.4121	0.60948	1.0:0.0:0.0:0.0	.	355	Q96KA5	CLP1L_HUMAN	D	355	ENSP00000313854:V355D	ENSP00000313854:V355D	V	-	2	0	CLPTM1L	1383411	0.850000	0.29656	0.002000	0.10522	0.001000	0.01503	6.850000	0.75420	1.796000	0.52611	0.533000	0.62120	GTT	CLPTM1L	-	pfam_CLPTM1	ENSG00000049656		0.622	CLPTM1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLPTM1L	HGNC	protein_coding	OTTHUMT00000253649.2	-	0.00	76	0	A	NM_030782		1330411	-1	tier1	-	no_errors	ENST00000320895	ensembl	human	known	74_37	missense	8.70	42	4	SNP	0.249	T
CMTM5	116173	genome.wustl.edu	37	14	23848315	23848315	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr14:23848315G>T	ENST00000339180.4	+	4	772	c.556G>T	c.(556-558)Gct>Tct	p.A186S	CMTM5_ENST00000342473.4_Intron|CMTM5_ENST00000359320.3_Missense_Mutation_p.A119S|CMTM5_ENST00000397227.3_Missense_Mutation_p.A68S|CMTM5_ENST00000555731.1_Missense_Mutation_p.A81S|CMTM5_ENST00000382809.2_Intron			Q96DZ9	CKLF5_HUMAN	CKLF-like MARVEL transmembrane domain containing 5	186	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				chemotaxis (GO:0006935)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)		p.A119P(1)		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)		CCGGGACGGAGCTGCCATTGC	0.582																																																	1	Substitution - Missense(1)	prostate(1)											89.0	75.0	80.0					14																	23848315		2203	4300	6503	SO:0001583	missense	0			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.556G>T	14.37:g.23848315G>T	ENSP00000344819:p.Ala186Ser		E9PH91|Q5PY48	Missense_Mutation	SNP	NULL	p.A186S	ENST00000339180.4	37	c.556		14	.	.	.	.	.	.	.	.	.	.	G	21.0	4.085475	0.76642	.	.	ENSG00000166091	ENST00000359320;ENST00000339180;ENST00000397227;ENST00000555731	T;T;T	0.50001	1.82;0.78;0.76	5.45	4.51	0.55191	Marvel (1);	0.334167	0.26248	N	0.025480	T	0.51907	0.1702	.	.	.	0.80722	D	1	P;P;P;P	0.49559	0.607;0.846;0.607;0.925	B;B;B;P	0.49597	0.187;0.38;0.187;0.616	T	0.54596	-0.8270	9	0.62326	D	0.03	-0.221	11.6211	0.51119	0.0:0.1315:0.7335:0.1349	.	81;186;68;119	C9JAI6;Q96DZ9;Q96DZ9-5;Q96DZ9-2	.;CKLF5_HUMAN;.;.	S	119;186;68;81	ENSP00000352270:A119S;ENSP00000344819:A186S;ENSP00000451514:A81S	ENSP00000344819:A186S	A	+	1	0	CMTM5	22918155	0.998000	0.40836	1.000000	0.80357	0.985000	0.73830	0.667000	0.25112	2.714000	0.92807	0.561000	0.74099	GCT	CMTM5	-	NULL	ENSG00000166091		0.582	CMTM5-003	KNOWN	basic	protein_coding	CMTM5	HGNC	protein_coding	OTTHUMT00000133708.2	-	0.00	60	0	G			23848315	+1	tier1	-	no_errors	ENST00000339180	ensembl	human	known	74_37	missense	25.61	60	21	SNP	1.000	T
CNGA3	1261	genome.wustl.edu	37	2	99013128	99013128	+	Nonsense_Mutation	SNP	C	C	T			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr2:99013128C>T	ENST00000272602.2	+	7	1534	c.1495C>T	c.(1495-1497)Cga>Tga	p.R499*	CNGA3_ENST00000393504.1_Nonsense_Mutation_p.R499*|CNGA3_ENST00000436404.2_Nonsense_Mutation_p.R481*|CNGA3_ENST00000409937.1_Nonsense_Mutation_p.R503*			Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	499					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						GCTGAAGCTGCGACCCACTGT	0.567																																																	0													70.0	64.0	66.0					2																	99013128		2203	4300	6503	SO:0001587	stop_gained	0			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.1495C>T	2.37:g.99013128C>T	ENSP00000272602:p.Arg499*		E9PF93|Q4VAP7|Q53RD2|Q6ZNA7|Q9UP64	Nonsense_Mutation	SNP	pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.R499*	ENST00000272602.2	37	c.1495	CCDS2034.1	2	.	.	.	.	.	.	.	.	.	.	C	34	5.311231	0.95655	.	.	ENSG00000144191	ENST00000393504;ENST00000436404;ENST00000272602;ENST00000409937	.	.	.	4.92	2.92	0.33932	.	0.122332	0.56097	D	0.000025	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.2148	0.54400	0.3953:0.6047:0.0:0.0	.	.	.	.	X	499;481;499;503	.	ENSP00000272602:R499X	R	+	1	2	CNGA3	98379560	0.002000	0.14202	0.998000	0.56505	0.979000	0.70002	0.468000	0.22051	1.283000	0.44513	0.558000	0.71614	CGA	CNGA3	-	superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	ENSG00000144191		0.567	CNGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNGA3	HGNC	protein_coding	OTTHUMT00000252986.1	-	0.00	20	0	C	NM_001298		99013128	+1	tier1	-	no_errors	ENST00000272602	ensembl	human	known	74_37	nonsense	15.38	22	4	SNP	0.999	T
COL14A1	7373	genome.wustl.edu	37	8	121256240	121256240	+	Silent	SNP	A	A	G			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr8:121256240A>G	ENST00000297848.3	+	20	2742	c.2472A>G	c.(2470-2472)ggA>ggG	p.G824G	COL14A1_ENST00000309791.4_Silent_p.G824G|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000247781.3_Silent_p.G729G	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)			CCGCTCCTGGAAAAACCTGTA	0.473																																																	0													98.0	103.0	101.0					8																	121256240		2203	4300	6503	SO:0001819	synonymous_variant	0				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.2472A>G	8.37:g.121256240A>G				Silent	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.G824	ENST00000297848.3	37	c.2472	CCDS34938.1	8																																																																																			COL14A1	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000187955		0.473	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL14A1	HGNC	protein_coding	OTTHUMT00000313657.2	-	0.00	33	0	A	NM_021110		121256240	+1	tier1	-	no_errors	ENST00000297848	ensembl	human	known	74_37	silent	25.00	18	6	SNP	0.986	G
COL6A1	1291	genome.wustl.edu	37	21	47421897	47421897	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr21:47421897C>T	ENST00000361866.3	+	31	2093	c.1979C>T	c.(1978-1980)gCg>gTg	p.A660V	COL6A1_ENST00000498614.1_3'UTR	NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	660	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)		CAGTCGTACGCGGGTGTGGTG	0.652																																																	0													40.0	38.0	39.0					21																	47421897		2203	4300	6503	SO:0001583	missense	0			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.1979C>T	21.37:g.47421897C>T	ENSP00000355180:p.Ala660Val		O00117|O00118|Q14040|Q14041|Q16258|Q7Z645|Q9BSA8	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.A660V	ENST00000361866.3	37	c.1979	CCDS13727.1	21	.	.	.	.	.	.	.	.	.	.	C	1.622	-0.521311	0.04171	.	.	ENSG00000142156	ENST00000361866	T	0.77358	-1.09	4.64	1.81	0.25067	von Willebrand factor, type A (3);	0.292311	0.27358	N	0.019740	T	0.25754	0.0627	N	0.00028	-2.635	0.09310	N	1	B	0.19073	0.033	B	0.12156	0.007	T	0.52290	-0.8595	10	0.02654	T	1	-13.0039	5.8377	0.18617	0.0:0.4341:0.0:0.5659	.	660	P12109	CO6A1_HUMAN	V	660	ENSP00000355180:A660V	ENSP00000355180:A660V	A	+	2	0	COL6A1	46246325	0.982000	0.34865	0.003000	0.11579	0.004000	0.04260	2.317000	0.43770	0.405000	0.25532	0.462000	0.41574	GCG	COL6A1	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000142156		0.652	COL6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A1	HGNC	protein_coding	OTTHUMT00000206877.1	-	0.00	17	0	C	NM_001848		47421897	+1	tier1	-	no_errors	ENST00000361866	ensembl	human	known	74_37	missense	68.75	5	11	SNP	0.105	T
CPA3	1359	genome.wustl.edu	37	3	148583320	148583320	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr3:148583320G>T	ENST00000296046.3	+	2	181	c.129G>T	c.(127-129)ttG>ttT	p.L43F	RP11-680B3.2_ENST00000488190.1_RNA	NM_001870.2	NP_001861.2	P15088	CBPA3_HUMAN	carboxypeptidase A3 (mast cell)	43					angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|secretory granule (GO:0030141)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.L43F(1)		NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			TAAAGGACTTGGCCAAAACCA	0.393																																																	1	Substitution - Missense(1)	lung(1)											120.0	129.0	126.0					3																	148583320		2203	4300	6503	SO:0001583	missense	0				CCDS3138.1	3q24	2012-02-10			ENSG00000163751	ENSG00000163751	3.4.17.1		2298	protein-coding gene	gene with protein product	"""mast cell carboxypeptidase A"", ""tissue carboxypeptidase A"""	114851					Standard	NM_001870		Approved		uc003ewm.3	P15088	OTTHUMG00000159526	ENST00000296046.3:c.129G>T	3.37:g.148583320G>T	ENSP00000296046:p.Leu43Phe		Q96E94	Missense_Mutation	SNP	pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14	p.L43F	ENST00000296046.3	37	c.129	CCDS3138.1	3	.	.	.	.	.	.	.	.	.	.	G	15.55	2.868162	0.51588	.	.	ENSG00000163751	ENST00000296046	T	0.27256	1.68	6.17	2.31	0.28768	Proteinase inhibitor, propeptide (1);Proteinase inhibitor, carboxypeptidase propeptide (2);	0.078660	0.52532	N	0.000064	T	0.46288	0.1385	M	0.76328	2.33	0.58432	D	0.99999	D	0.89917	1.0	D	0.83275	0.996	T	0.38542	-0.9656	10	0.87932	D	0	.	8.5178	0.33257	0.3874:0.0:0.6126:0.0	.	43	P15088	CBPA3_HUMAN	F	43	ENSP00000296046:L43F	ENSP00000296046:L43F	L	+	3	2	CPA3	150066010	1.000000	0.71417	0.998000	0.56505	0.639000	0.38242	0.660000	0.25009	0.436000	0.26393	-0.345000	0.07892	TTG	CPA3	-	pfam_Prot_inh_M14A,superfamily_Prot_inh_propept	ENSG00000163751		0.393	CPA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPA3	HGNC	protein_coding	OTTHUMT00000355974.1		0.00	34	0	G	NM_001870		148583320	+1			no_errors	ENST00000296046	ensembl	human	known	74_37	missense	5.00	38	2	SNP	0.983	T
CSF1R	1436	genome.wustl.edu	37	5	149449556	149449556	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr5:149449556G>T	ENST00000286301.3	-	10	1681	c.1390C>A	c.(1390-1392)Cac>Aac	p.H464N	CSF1R_ENST00000515239.1_5'Flank	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	464	Ig-like C2-type 5.				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)	GTCACCTTGTGGAAGGGCTCC	0.592																																																	0													105.0	102.0	103.0					5																	149449556		2203	4300	6503	SO:0001583	missense	0			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.1390C>A	5.37:g.149449556G>T	ENSP00000286301:p.His464Asn		B5A955|D3DQG2|Q6LDW5|Q6LDY4|Q86VW7	Missense_Mutation	SNP	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_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,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.H464N	ENST00000286301.3	37	c.1390	CCDS4302.1	5	.	.	.	.	.	.	.	.	.	.	G	0.397	-0.920565	0.02396	.	.	ENSG00000182578	ENST00000286301;ENST00000394307	T	0.41065	1.01	5.78	2.68	0.31781	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.430095	0.22150	N	0.063922	T	0.33760	0.0874	L	0.56769	1.78	0.80722	D	1	P;B	0.38335	0.627;0.381	B;B	0.36030	0.216;0.14	T	0.08046	-1.0741	10	0.18276	T	0.48	.	9.2661	0.37641	0.0:0.2903:0.5602:0.1495	.	316;464	B4E2Y8;P07333	.;CSF1R_HUMAN	N	464;316	ENSP00000286301:H464N	ENSP00000286301:H464N	H	-	1	0	CSF1R	149429749	1.000000	0.71417	1.000000	0.80357	0.303000	0.27691	0.473000	0.22132	1.429000	0.47314	0.555000	0.69702	CAC	CSF1R	-	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000182578		0.592	CSF1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSF1R	HGNC	protein_coding	OTTHUMT00000252329.2	-	0.00	50	0	G	NM_005211		149449556	-1	tier1	-	no_errors	ENST00000286301	ensembl	human	known	74_37	missense	9.09	40	4	SNP	0.997	T
CTNND1	1500	genome.wustl.edu	37	11	57575738	57575738	+	Nonsense_Mutation	SNP	C	C	T			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr11:57575738C>T	ENST00000399050.4	+	13	2601	c.2065C>T	c.(2065-2067)Cag>Tag	p.Q689*	CTNND1_ENST00000531014.1_Nonsense_Mutation_p.Q360*|CTNND1_ENST00000399039.4_Nonsense_Mutation_p.Q689*|CTNND1_ENST00000532844.1_Nonsense_Mutation_p.Q635*|CTNND1_ENST00000524630.1_Nonsense_Mutation_p.Q683*|CTNND1_ENST00000529919.1_Nonsense_Mutation_p.Q689*|CTNND1_ENST00000528621.1_Nonsense_Mutation_p.Q629*|CTNND1_ENST00000533667.1_Nonsense_Mutation_p.Q360*|CTNND1_ENST00000415361.2_Nonsense_Mutation_p.Q588*|CTNND1_ENST00000525902.1_Nonsense_Mutation_p.Q366*|CTNND1_ENST00000529526.1_Nonsense_Mutation_p.Q629*|CTNND1_ENST00000534579.1_Nonsense_Mutation_p.Q629*|CTNND1_ENST00000358694.6_Nonsense_Mutation_p.Q683*|CTNND1_ENST00000530748.1_Nonsense_Mutation_p.Q635*|CTNND1_ENST00000530094.1_Nonsense_Mutation_p.Q582*|CTNND1_ENST00000361796.4_Nonsense_Mutation_p.Q683*|CTNND1_ENST00000428599.2_Nonsense_Mutation_p.Q683*|CTNND1_ENST00000526357.1_Nonsense_Mutation_p.Q629*|CTNND1_ENST00000426142.2_Nonsense_Mutation_p.Q582*|CTNND1_ENST00000532245.1_Nonsense_Mutation_p.Q582*|CTNND1_ENST00000532463.1_Nonsense_Mutation_p.Q582*|CTNND1_ENST00000526772.1_Nonsense_Mutation_p.Q360*|CTNND1_ENST00000526938.1_Nonsense_Mutation_p.Q689*|CTNND1_ENST00000532649.1_Nonsense_Mutation_p.Q629*|CTNND1_ENST00000529986.1_Nonsense_Mutation_p.Q582*|CTNND1_ENST00000360682.6_Nonsense_Mutation_p.Q689*|CTNND1_ENST00000361332.4_Nonsense_Mutation_p.Q683*|CTNND1_ENST00000529873.1_Nonsense_Mutation_p.Q629*|CTNND1_ENST00000532787.1_Nonsense_Mutation_p.Q582*|CTNND1_ENST00000528232.1_Nonsense_Mutation_p.Q588*|CTNND1_ENST00000361391.6_Nonsense_Mutation_p.Q683*|CTNND1_ENST00000527467.1_Nonsense_Mutation_p.Q366*	NM_001085458.1	NP_001078927.1	O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	689					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)				TGGAGCTATCCAGAACTTGTG	0.453																																																	0													81.0	73.0	76.0					11																	57575738		1890	4110	6000	SO:0001587	stop_gained	0			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.2065C>T	11.37:g.57575738C>T	ENSP00000382004:p.Gln689*		A8K939|O15088|O60713|O60714|O60715|O60935|Q6DHZ7|Q6RBX8|Q9UP71|Q9UP72|Q9UP73	Nonsense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.Q689*	ENST00000399050.4	37	c.2065	CCDS44604.1	11	.	.	.	.	.	.	.	.	.	.	C	43	10.307563	0.99380	.	.	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	.	.	.	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-0.1814	18.5534	0.91073	0.0:1.0:0.0:0.0	.	.	.	.	X	683;689;689;689;683;629;582;689;683;683;582;582;683;582;360;629;629;635;683;366;588;360;360;629;366;635;629;582;588;582;629;689	.	ENSP00000351527:Q683X	Q	+	1	0	CTNND1	57332314	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.445000	0.80570	2.566000	0.86566	0.460000	0.39030	CAG	CTNND1	-	superfamily_ARM-type_fold,smart_Armadillo	ENSG00000198561		0.453	CTNND1-006	KNOWN	basic|CCDS	protein_coding	CTNND1	HGNC	protein_coding	OTTHUMT00000393944.1	-	0.00	57	0	C	NM_001331		57575738	+1	tier1	-	no_errors	ENST00000399050	ensembl	human	known	74_37	nonsense	28.33	43	17	SNP	1.000	T
CUL9	23113	genome.wustl.edu	37	6	43188266	43188266	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr6:43188266G>T	ENST00000252050.4	+	32	6436	c.6352G>T	c.(6352-6354)Gcc>Tcc	p.A2118S	CUL9_ENST00000372647.2_Missense_Mutation_p.A2090S|CUL9_ENST00000354495.3_Missense_Mutation_p.A2008S|RP3-330M21.5_ENST00000500590.1_RNA	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	2118					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						CTGCCCCATTGCCGACTGCCC	0.582																																																	0													152.0	147.0	149.0					6																	43188266		2203	4300	6503	SO:0001583	missense	0			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.6352G>T	6.37:g.43188266G>T	ENSP00000252050:p.Ala2118Ser		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.A2118S	ENST00000252050.4	37	c.6352	CCDS4890.1	6	.	.	.	.	.	.	.	.	.	.	G	14.10	2.434950	0.43224	.	.	ENSG00000112659	ENST00000252050;ENST00000354495;ENST00000372647	T;T;T	0.72505	-0.66;-0.66;-0.55	5.44	4.58	0.56647	Zinc finger, RING-type (1);	0.188173	0.46758	D	0.000274	T	0.35393	0.0930	L	0.41236	1.265	0.34401	D	0.695287	B;B;B	0.29136	0.234;0.08;0.08	B;B;B	0.25506	0.061;0.015;0.015	T	0.15009	-1.0452	10	0.16420	T	0.52	-10.9349	5.4569	0.16596	0.1642:0.0:0.6316:0.2042	.	2008;2090;2118	Q8IWT3-3;E9PEZ1;Q8IWT3	.;.;CUL9_HUMAN	S	2118;2008;2090	ENSP00000252050:A2118S;ENSP00000346490:A2008S;ENSP00000361730:A2090S	ENSP00000252050:A2118S	A	+	1	0	CUL9	43296244	0.767000	0.28508	0.995000	0.50966	0.992000	0.81027	0.928000	0.28831	1.309000	0.44985	0.555000	0.69702	GCC	CUL9	-	NULL	ENSG00000112659		0.582	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUL9	HGNC	protein_coding	OTTHUMT00000040582.2	-	0.00	53	0	G	NM_015089		43188266	+1	tier1	-	no_errors	ENST00000252050	ensembl	human	known	74_37	missense	6.15	60	4	SNP	0.972	T
CWH43	80157	genome.wustl.edu	37	4	48996764	48996764	+	Nonsense_Mutation	SNP	G	G	T			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr4:48996764G>T	ENST00000226432.4	+	5	823	c.640G>T	c.(640-642)Gga>Tga	p.G214*	CWH43_ENST00000513409.1_Nonsense_Mutation_p.G187*	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	214					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						CTGGGTTTTTGGAGAAGTCTC	0.547																																																	0													115.0	109.0	111.0					4																	48996764		2203	4300	6503	SO:0001587	stop_gained	0				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.640G>T	4.37:g.48996764G>T	ENSP00000226432:p.Gly214*		B2RPD7	Nonsense_Mutation	SNP	superfamily_Endo/exonuclease/phosphatase	p.G214*	ENST00000226432.4	37	c.640	CCDS3486.1	4	.	.	.	.	.	.	.	.	.	.	G	38	6.873127	0.97901	.	.	ENSG00000109182	ENST00000226432;ENST00000513409	.	.	.	4.8	4.8	0.61643	.	0.261790	0.26553	N	0.023736	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5787	0.84708	0.0:0.0:1.0:0.0	.	.	.	.	X	214;187	.	.	G	+	1	0	CWH43	48691521	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.776000	0.68924	2.634000	0.89283	0.655000	0.94253	GGA	CWH43	-	NULL	ENSG00000109182		0.547	CWH43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CWH43	HGNC	protein_coding	OTTHUMT00000250496.2	-	0.00	79	0	G	NM_025087		48996764	+1	tier1	-	no_errors	ENST00000226432	ensembl	human	known	74_37	nonsense	5.43	87	5	SNP	1.000	T
CYP2S1	29785	genome.wustl.edu	37	19	41704729	41704729	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr19:41704729G>A	ENST00000310054.4	+	5	986	c.770G>A	c.(769-771)gGg>gAg	p.G257E	CYP2S1_ENST00000542619.1_Intron	NM_030622.6	NP_085125.1	Q96SQ9	CP2S1_HUMAN	cytochrome P450, family 2, subfamily S, polypeptide 1	257					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						CAGCACCAGGGGAACCTGGAT	0.652																																																	0													61.0	59.0	60.0					19																	41704729		2203	4300	6503	SO:0001583	missense	0			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.770G>A	19.37:g.41704729G>A	ENSP00000308032:p.Gly257Glu		Q9BZ66	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-I_CYP2A-like,prints_Cyt_P450_E_grp-I_CYP2B-like,prints_Cyt_P450_B	p.G257E	ENST00000310054.4	37	c.770	CCDS12573.1	19	.	.	.	.	.	.	.	.	.	.	g	2.741	-0.262119	0.05791	.	.	ENSG00000167600	ENST00000301173;ENST00000310054	T	0.64260	-0.09	5.28	-4.99	0.03010	.	0.431409	0.22355	N	0.061146	T	0.19725	0.0474	N	0.01297	-0.9	0.19300	N	0.999974	B	0.02656	0.0	B	0.08055	0.003	T	0.43734	-0.9373	10	0.02654	T	1	.	6.8478	0.23998	0.583:0.2544:0.1626:0.0	.	257	Q96SQ9	CP2S1_HUMAN	E	257	ENSP00000308032:G257E	ENSP00000301173:G257E	G	+	2	0	CYP2S1	46396569	0.000000	0.05858	0.002000	0.10522	0.311000	0.27955	-0.959000	0.03853	-0.378000	0.07918	-0.477000	0.04895	GGG	CYP2S1	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000167600		0.652	CYP2S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2S1	HGNC	protein_coding	OTTHUMT00000463287.1	-	0.00	50	0	G			41704729	+1	tier1	-	no_errors	ENST00000310054	ensembl	human	known	74_37	missense	36.00	32	18	SNP	0.025	A
DAAM2	23500	genome.wustl.edu	37	6	39847239	39847239	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr6:39847239G>T	ENST00000398904.2	+	14	2013	c.1831G>T	c.(1831-1833)Gtg>Ttg	p.V611L	DAAM2_ENST00000274867.4_Missense_Mutation_p.V611L|RP11-61I13.3_ENST00000607675.1_RNA|DAAM2_ENST00000538976.1_Missense_Mutation_p.V611L			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	611	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)					CTTCAACTGGGTGAAGCTGAA	0.607																																																	0													76.0	77.0	77.0					6																	39847239		1952	4109	6061	SO:0001583	missense	0			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.1831G>T	6.37:g.39847239G>T	ENSP00000381876:p.Val611Leu		G5EA45|Q5T4T8|Q5T4U0|Q9NQI5|Q9Y4G0	Missense_Mutation	SNP	pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,smart_FH2_Formin	p.V611L	ENST00000398904.2	37	c.1831	CCDS56426.1	6	.	.	.	.	.	.	.	.	.	.	G	8.930	0.963184	0.18583	.	.	ENSG00000146122	ENST00000274867;ENST00000398904;ENST00000538976	T;T;T	0.17370	2.28;2.28;2.28	5.15	4.28	0.50868	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.239181	0.34853	N	0.003634	T	0.10809	0.0264	L	0.58810	1.83	0.80722	D	1	P;P	0.41131	0.739;0.605	B;B	0.43360	0.293;0.417	T	0.06752	-1.0809	10	0.21014	T	0.42	.	13.2879	0.60253	0.0:0.0:0.7126:0.2873	.	611;611	G5EA45;Q86T65	.;DAAM2_HUMAN	L	611	ENSP00000274867:V611L;ENSP00000381876:V611L;ENSP00000437808:V611L	ENSP00000274867:V611L	V	+	1	0	DAAM2	39955217	1.000000	0.71417	1.000000	0.80357	0.204000	0.24138	2.269000	0.43346	1.142000	0.42291	-0.175000	0.13238	GTG	DAAM2	-	pfam_FH2_Formin,smart_FH2_Formin	ENSG00000146122		0.607	DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	DAAM2	HGNC	protein_coding	OTTHUMT00000280648.1		0.00	67	0	G			39847239	+1			no_errors	ENST00000274867	ensembl	human	known	74_37	missense	6.25	60	4	SNP	0.999	T
DCHS2	54798	genome.wustl.edu	37	4	155219058	155219058	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr4:155219058C>A	ENST00000357232.4	-	18	5042	c.5043G>T	c.(5041-5043)aaG>aaT	p.K1681N		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1681	Cadherin 14. {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)		TGAAGGAAATCTTTACATCTT	0.453																																																	0													80.0	80.0	80.0					4																	155219058		2203	4300	6503	SO:0001583	missense	0			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.5043G>T	4.37:g.155219058C>A	ENSP00000349768:p.Lys1681Asn		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.K1681N	ENST00000357232.4	37	c.5043	CCDS3785.1	4	.	.	.	.	.	.	.	.	.	.	C	11.48	1.650401	0.29336	.	.	ENSG00000197410	ENST00000357232	T	0.55052	0.54	5.82	2.66	0.31614	Cadherin (1);	0.847069	0.10789	N	0.634007	T	0.34658	0.0905	N	0.20881	0.62	0.09310	N	1	B	0.14805	0.011	B	0.10450	0.005	T	0.23048	-1.0199	10	0.15952	T	0.53	.	7.864	0.29526	0.0:0.6649:0.1246:0.2106	.	1681	Q6V1P9	PCD23_HUMAN	N	1681	ENSP00000349768:K1681N	ENSP00000349768:K1681N	K	-	3	2	DCHS2	155438508	0.019000	0.18553	0.001000	0.08648	0.989000	0.77384	1.294000	0.33365	0.767000	0.33267	0.650000	0.86243	AAG	DCHS2	-	smart_Cadherin	ENSG00000197410		0.453	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS2	HGNC	protein_coding	OTTHUMT00000365281.2	-	0.00	44	0	C	NM_001142552		155219058	-1	tier1	-	no_errors	ENST00000357232	ensembl	human	known	74_37	missense	27.78	26	10	SNP	0.000	A
DHX58	79132	genome.wustl.edu	37	17	40257821	40257821	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr17:40257821G>T	ENST00000251642.3	-	9	1406	c.1184C>A	c.(1183-1185)aCt>aAt	p.T395N		NM_024119.2	NP_077024.2	Q96C10	DHX58_HUMAN	DEXH (Asp-Glu-X-His) box polypeptide 58	395	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				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)		GATGTCCACAGTCTGCAGGCC	0.632																																																	0													63.0	62.0	63.0					17																	40257821		2203	4300	6503	SO:0001583	missense	0			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.1184C>A	17.37:g.40257821G>T	ENSP00000251642:p.Thr395Asn		Q9HAM6	Missense_Mutation	SNP	pfam_RIG-I_C-RD,pfam_Helicase/UvrB_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.T395N	ENST00000251642.3	37	c.1184	CCDS11416.1	17	.	.	.	.	.	.	.	.	.	.	G	3.846	-0.032829	0.07543	.	.	ENSG00000108771	ENST00000251642;ENST00000423748	T	0.42900	0.96	5.17	-0.743	0.11105	Helicase, C-terminal (2);	0.773311	0.11333	N	0.574823	T	0.17746	0.0426	N	0.12746	0.255	0.09310	N	1	B;B	0.12013	0.005;0.005	B;B	0.11329	0.006;0.006	T	0.22277	-1.0221	10	0.16896	T	0.51	.	2.041	0.03550	0.2172:0.1081:0.4641:0.2105	.	388;395	B7Z455;Q96C10	.;DHX58_HUMAN	N	395;358	ENSP00000251642:T395N	ENSP00000251642:T395N	T	-	2	0	DHX58	37511347	0.000000	0.05858	0.144000	0.22314	0.101000	0.19017	-1.058000	0.03482	0.210000	0.20664	0.455000	0.32223	ACT	DHX58	-	superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C	ENSG00000108771		0.632	DHX58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX58	HGNC	protein_coding	OTTHUMT00000257396.1		0.00	20	0	G	NM_024119		40257821	-1			no_errors	ENST00000251642	ensembl	human	known	74_37	missense	9.52	38	4	SNP	0.002	T
DLG1	1739	genome.wustl.edu	37	3	196863547	196863547	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr3:196863547G>T	ENST00000419354.1	-	11	1271	c.985C>A	c.(985-987)Ctt>Att	p.L329I	DLG1_ENST00000422288.1_Missense_Mutation_p.L278I|DLG1_ENST00000448528.2_Missense_Mutation_p.L329I|DLG1_ENST00000357674.4_Missense_Mutation_p.L296I|DLG1_ENST00000346964.2_Missense_Mutation_p.L329I|DLG1_ENST00000452595.1_Missense_Mutation_p.L213I|DLG1_ENST00000314062.3_Missense_Mutation_p.L278I|DLG1_ENST00000450955.1_Missense_Mutation_p.L296I|DLG1_ENST00000443183.1_Missense_Mutation_p.L213I|DLG1_ENST00000392382.2_Missense_Mutation_p.L296I			Q12959	DLG1_HUMAN	discs, large homolog 1 (Drosophila)	329	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				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)		CTAAACCCAAGACCTGTTTGG	0.378																																																	0													115.0	106.0	109.0					3																	196863547		2203	4300	6503	SO:0001583	missense	0			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.985C>A	3.37:g.196863547G>T	ENSP00000407531:p.Leu329Ile		A5YKK7|B4DGU1|B4DGZ8|B7ZMM0|B9EIQ5|D3DXB8|D3DXB9|E7EWL7|E9PG21|Q12958	Missense_Mutation	SNP	pfam_GK/Ca_channel_bsu,pfam_PDZ,pfam_MAGUK_PEST_N,pfam_L27_1,pfam_PDZ_assoc,pfam_SH3_2,pfam_SH3_domain,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pirsf_M-assoc_guanylate_kinase,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like	p.L329I	ENST00000419354.1	37	c.985	CCDS43194.1	3	.	.	.	.	.	.	.	.	.	.	G	23.6	4.430756	0.83776	.	.	ENSG00000075711	ENST00000346964;ENST00000359922;ENST00000357674;ENST00000381807;ENST00000314062;ENST00000419354;ENST00000452595;ENST00000422288;ENST00000448528;ENST00000443183;ENST00000392382;ENST00000450955;ENST00000447466	T;T;T;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;1.75;1.75;1.75	5.41	5.41	0.78517	PDZ/DHR/GLGF (4);	0.074293	0.56097	D	0.000028	T	0.59595	0.2205	M	0.88105	2.93	0.80722	D	1	P;D;P;P;B;D;B	0.71674	0.848;0.997;0.728;0.728;0.321;0.998;0.321	P;D;P;P;P;D;P	0.83275	0.88;0.994;0.849;0.849;0.663;0.996;0.663	T	0.64993	-0.6276	10	0.54805	T	0.06	.	18.5365	0.91013	0.0:0.0:1.0:0.0	.	296;213;213;213;296;329;329	Q12959-4;E9PG21;E7EWL7;B4DGU1;Q12959-3;Q12959;Q12959-2	.;.;.;.;.;DLG1_HUMAN;.	I	329;329;296;329;278;329;213;278;329;213;296;296;138	ENSP00000345731:L329I;ENSP00000350303:L296I;ENSP00000321087:L278I;ENSP00000407531:L329I;ENSP00000398939:L213I;ENSP00000413238:L278I;ENSP00000391732:L329I;ENSP00000396658:L213I;ENSP00000376187:L296I;ENSP00000411278:L296I;ENSP00000398702:L138I	ENSP00000321087:L278I	L	-	1	0	DLG1	198347944	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	7.299000	0.78831	2.695000	0.91970	0.655000	0.94253	CTT	DLG1	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pirsf_M-assoc_guanylate_kinase,pfscan_PDZ	ENSG00000075711		0.378	DLG1-008	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	DLG1	HGNC	protein_coding	OTTHUMT00000258170.2	-	0.00	39	0	G	NM_004087		196863547	-1	tier1	-	no_errors	ENST00000346964	ensembl	human	known	74_37	missense	10.26	35	4	SNP	1.000	T
DLX3	1747	genome.wustl.edu	37	17	48069206	48069206	+	Missense_Mutation	SNP	C	C	T	rs141606294		TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr17:48069206C>T	ENST00000434704.2	-	3	764	c.539G>A	c.(538-540)cGc>cAc	p.R180H	DLX3_ENST00000512495.2_Missense_Mutation_p.R60H	NM_005220.2	NP_005211.1	O60479	DLX3_HUMAN	distal-less homeobox 3	180					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)	p.R180H(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						CTTGGAACGGCGGTTCTGGAA	0.512																																																	1	Substitution - Missense(1)	large_intestine(1)											84.0	82.0	83.0					17																	48069206		2203	4300	6503	SO:0001583	missense	0				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.539G>A	17.37:g.48069206C>T	ENSP00000389870:p.Arg180His		B3KQL6	Missense_Mutation	SNP	pfam_Distal-less_N,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa	p.R180H	ENST00000434704.2	37	c.539	CCDS11556.1	17	.	.	.	.	.	.	.	.	.	.	C	19.12	3.766140	0.69878	.	.	ENSG00000064195	ENST00000434704;ENST00000512495	D;D	0.97553	-4.43;-4.42	4.38	4.38	0.52667	Homeobox, eukaryotic (1);Homeodomain-related (1);Helix-turn-helix motif, lambda-like repressor (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.98425	0.9476	M	0.92923	3.36	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98435	1.0584	10	0.56958	D	0.05	-21.9907	8.129	0.31016	0.0:0.8932:0.0:0.1068	.	180	O60479	DLX3_HUMAN	H	180;60	ENSP00000389870:R180H;ENSP00000449976:R60H	ENSP00000389870:R180H	R	-	2	0	DLX3	45424205	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	3.949000	0.56668	2.280000	0.76307	0.561000	0.74099	CGC	DLX3	-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa	ENSG00000064195		0.512	DLX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLX3	HGNC	protein_coding	OTTHUMT00000366307.1	-	0.00	29	0	C			48069206	-1	tier1	-	no_errors	ENST00000434704	ensembl	human	known	74_37	missense	34.04	31	16	SNP	1.000	T
DNAH5	1767	genome.wustl.edu	37	5	13885264	13885264	+	Silent	SNP	C	C	T			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr5:13885264C>T	ENST00000265104.4	-	19	2921	c.2817G>A	c.(2815-2817)acG>acA	p.T939T	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	939	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)					TCGTGACTGTCGTCAAAAGCA	0.418									Kartagener syndrome																																								0													95.0	95.0	95.0					5																	13885264		2203	4300	6503	SO:0001819	synonymous_variant	0	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.2817G>A	5.37:g.13885264C>T			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,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.T939	ENST00000265104.4	37	c.2817	CCDS3882.1	5																																																																																			DNAH5	-	NULL	ENSG00000039139		0.418	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	HGNC	protein_coding	OTTHUMT00000207057.2	-	0.00	39	0	C	NM_001369		13885264	-1	tier1	-	no_errors	ENST00000265104	ensembl	human	known	74_37	silent	45.16	17	14	SNP	0.000	T
DNAH5	1767	genome.wustl.edu	37	5	13922278	13922278	+	Missense_Mutation	SNP	A	A	T			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr5:13922278A>T	ENST00000265104.4	-	5	702	c.598T>A	c.(598-600)Ttg>Atg	p.L200M		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	200	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)					AGGGAGCTCAAGAACTCCTGG	0.542									Kartagener syndrome																																								0													90.0	80.0	83.0					5																	13922278		2203	4300	6503	SO:0001583	missense	0	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.598T>A	5.37:g.13922278A>T	ENSP00000265104:p.Leu200Met		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,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.L200M	ENST00000265104.4	37	c.598	CCDS3882.1	5	.	.	.	.	.	.	.	.	.	.	.	12.63	1.994827	0.35226	.	.	ENSG00000039139	ENST00000265104	T	0.26660	1.72	5.55	-0.153	0.13403	.	0.073232	0.53938	D	0.000058	T	0.27027	0.0662	M	0.71206	2.165	0.44816	D	0.997823	B	0.28933	0.228	B	0.31614	0.133	T	0.07558	-1.0766	10	0.59425	D	0.04	.	10.0241	0.42061	0.3625:0.0:0.6375:0.0	.	200	Q8TE73	DYH5_HUMAN	M	200	ENSP00000265104:L200M	ENSP00000265104:L200M	L	-	1	2	DNAH5	13975278	1.000000	0.71417	0.991000	0.47740	0.738000	0.42128	1.225000	0.32551	-0.321000	0.08627	-1.144000	0.01866	TTG	DNAH5	-	NULL	ENSG00000039139		0.542	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	HGNC	protein_coding	OTTHUMT00000207057.2	-	0.00	50	0	A	NM_001369		13922278	-1	tier1	-	no_errors	ENST00000265104	ensembl	human	known	74_37	missense	12.90	27	4	SNP	0.991	T
DNAH6	1768	genome.wustl.edu	37	2	84800703	84800703	+	Missense_Mutation	SNP	A	A	T			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr2:84800703A>T	ENST00000237449.6	+	11	1924	c.1916A>T	c.(1915-1917)cAg>cTg	p.Q639L	DNAH6_ENST00000389394.3_Missense_Mutation_p.Q639L|DNAH6_ENST00000398278.2_Missense_Mutation_p.Q639L			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	639	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)	p.Q639L(1)|p.Q218L(1)		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						CTTAAACTTCAGGAACCTGGT	0.378																																																	2	Substitution - Missense(2)	lung(2)											92.0	103.0	100.0					2																	84800703		2202	4300	6502	SO:0001583	missense	0			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.1916A>T	2.37:g.84800703A>T	ENSP00000237449:p.Gln639Leu		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,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.Q639L	ENST00000237449.6	37	c.1916	CCDS46348.1	2	.	.	.	.	.	.	.	.	.	.	A	11.69	1.712719	0.30413	.	.	ENSG00000115423	ENST00000389394;ENST00000398278;ENST00000237449	T;T;T	0.25250	1.81;1.94;1.81	4.95	3.77	0.43336	.	0.664630	0.13032	N	0.419214	T	0.13884	0.0336	N	0.08118	0	0.23602	N	0.99731	B;B	0.14438	0.01;0.006	B;B	0.20184	0.028;0.005	T	0.29366	-1.0014	10	0.28530	T	0.3	.	10.0599	0.42268	0.8489:0.0:0.0:0.1511	.	639;218	Q9C0G6;Q9C0G6-3	DYH6_HUMAN;.	L	639	ENSP00000374045:Q639L;ENSP00000381326:Q639L;ENSP00000237449:Q639L	ENSP00000237449:Q639L	Q	+	2	0	DNAH6	84654214	0.978000	0.34361	0.991000	0.47740	0.983000	0.72400	4.621000	0.61233	0.697000	0.31718	0.402000	0.26972	CAG	DNAH6	-	NULL	ENSG00000115423		0.378	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH6	HGNC	protein_coding	OTTHUMT00000328537.2		0.00	33	0	A	NM_001370		84800703	+1			no_errors	ENST00000237449	ensembl	human	known	74_37	missense	5.88	32	2	SNP	0.946	T
DNAH9	1770	genome.wustl.edu	37	17	11642318	11642318	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr17:11642318G>A	ENST00000262442.4	+	29	6004	c.5936G>A	c.(5935-5937)cGc>cAc	p.R1979H	AC005701.1_ENST00000584990.1_RNA|DNAH9_ENST00000454412.2_Missense_Mutation_p.R1979H	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1979	AAA 1. {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)		TATGCTGGCCGCACAGAGCTG	0.478																																																	0													74.0	70.0	71.0					17																	11642318		2203	4300	6503	SO:0001583	missense	0			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.5936G>A	17.37:g.11642318G>A	ENSP00000262442:p.Arg1979His		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,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.R1979H	ENST00000262442.4	37	c.5936	CCDS11160.1	17	.	.	.	.	.	.	.	.	.	.	G	32	5.137893	0.94517	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.15017	2.46;2.46	5.94	5.94	0.96194	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.60495	0.2273	H	0.96970	3.915	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.73557	-0.3945	10	0.87932	D	0	.	20.3593	0.98849	0.0:0.0:1.0:0.0	.	1979	Q9NYC9	DYH9_HUMAN	H	1979;1979;561	ENSP00000262442:R1979H;ENSP00000414874:R1979H	ENSP00000262442:R1979H	R	+	2	0	DNAH9	11583043	1.000000	0.71417	1.000000	0.80357	0.683000	0.39861	9.670000	0.98625	2.807000	0.96579	0.591000	0.81541	CGC	DNAH9	-	superfamily_P-loop_NTPase,smart_AAA+_ATPase	ENSG00000007174		0.478	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH9	HGNC	protein_coding	OTTHUMT00000252756.2		0.00	68	0	G	NM_001372		11642318	+1			no_errors	ENST00000262442	ensembl	human	known	74_37	missense	6.67	56	4	SNP	1.000	A
DNM1P47	100216544	genome.wustl.edu	37	15	102304789	102304791	+	RNA	DEL	GAA	GAA	-			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	GAA	GAA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr15:102304789_102304791delGAA	ENST00000561463.1	+	0	12835_12837									DNM1 pseudogene 47																		ACTCGCGTGGGAAGAAGAAGACA	0.586																																																	0																																												0			AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102304795_102304797delGAA				RNA	DEL	-	NULL	ENST00000561463.1	37	NULL		15																																																																																			DNM1P47	-	-	ENSG00000259660		0.586	DNM1P47-001	KNOWN	basic	processed_transcript	DNM1P47	HGNC	pseudogene	OTTHUMT00000417589.1		0.00	68	0	GAA	NG_009149		102304791	+1	tier1		no_errors	ENST00000561463	ensembl	human	known	74_37	rna	37.21	27	16	DEL	0.066:0.054:0.028	-
DPP6	1804	genome.wustl.edu	37	7	154595588	154595588	+	Silent	SNP	C	C	T	rs202156140		TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr7:154595588C>T	ENST00000377770.3	+	14	1563	c.1422C>T	c.(1420-1422)aaC>aaT	p.N474N	DPP6_ENST00000332007.3_Silent_p.N412N|DPP6_ENST00000404039.1_Silent_p.N410N|DPP6_ENST00000427557.1_Silent_p.N367N			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	474					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)			ACAGCAGCAACGACAACATCC	0.567																																					NSCLC(125;1384 1783 2490 7422 34254)												0								C	,,	3,4179		0,3,2088	72.0	76.0	75.0		876,795,795	-5.0	0.9	7		75	0,8438		0,0,4219	no	coding-synonymous,coding-synonymous,coding-synonymous	DPP6	NM_001039350.1,NM_001936.3,NM_130797.2	,,	0,3,6307	TT,TC,CC		0.0,0.0717,0.0238	,,	292/684,265/657,265/657	154595588	3,12617	2091	4219	6310	SO:0001819	synonymous_variant	0			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.1422C>T	7.37:g.154595588C>T				Silent	SNP	pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_PD40	p.N474	ENST00000377770.3	37	c.1422		7																																																																																			DPP6	-	pfam_Peptidase_S9B	ENSG00000130226		0.567	DPP6-003	KNOWN	basic|appris_principal	protein_coding	DPP6	HGNC	protein_coding	OTTHUMT00000322932.1		0.00	45	0	C	NM_130797		154595588	+1			no_errors	ENST00000377770	ensembl	human	known	74_37	silent	9.52	37	4	SNP	0.697	T
DYNC2H1	79659	genome.wustl.edu	37	11	103027166	103027166	+	Missense_Mutation	SNP	G	G	A	rs200635842		TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr11:103027166G>A	ENST00000375735.2	+	26	3938	c.3794G>A	c.(3793-3795)cGt>cAt	p.R1265H	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.R1265H|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	1265	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)		GAAGCTTTACGTGAACTTGAT	0.333																																																	0													60.0	61.0	60.0					11																	103027166		1846	4094	5940	SO:0001583	missense	0			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.3794G>A	11.37:g.103027166G>A	ENSP00000364887:p.Arg1265His		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,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.R1265H	ENST00000375735.2	37	c.3794	CCDS53701.1	11	.	.	.	.	.	.	.	.	.	.	G	15.56	2.871071	0.51695	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.61980	0.06;0.06	5.27	5.27	0.74061	Dynein heavy chain, domain-2 (1);	0.395446	0.21027	N	0.081405	T	0.55242	0.1908	L	0.37697	1.125	0.58432	D	0.999998	B;B	0.24426	0.078;0.103	B;B	0.18871	0.023;0.021	T	0.50775	-0.8788	10	0.38643	T	0.18	.	18.8855	0.92376	0.0:0.0:1.0:0.0	.	1265;1265	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	H	1265	ENSP00000364887:R1265H;ENSP00000381167:R1265H	ENSP00000364887:R1265H	R	+	2	0	DYNC2H1	102532376	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.188000	0.94921	2.472000	0.83506	0.563000	0.77884	CGT	DYNC2H1	-	pfam_Dynein_heavy_dom-2	ENSG00000187240		0.333	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC2H1	HGNC	protein_coding	OTTHUMT00000387196.1	-	0.00	54	0	G	XM_370652		103027166	+1	tier1	rs200635842	no_errors	ENST00000398093	ensembl	human	known	74_37	missense	10.91	49	6	SNP	1.000	A
EBAG9	9166	genome.wustl.edu	37	8	110569206	110569206	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr8:110569206G>T	ENST00000337573.5	+	5	664	c.364G>T	c.(364-366)Gat>Tat	p.D122Y	EBAG9_ENST00000395785.2_Missense_Mutation_p.D122Y|EBAG9_ENST00000531677.1_Missense_Mutation_p.D122Y|EBAG9_ENST00000529502.1_3'UTR	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)											102.0	94.0	97.0					8																	110569206		2203	4299	6502	SO:0001583	missense	0			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>T	8.37:g.110569206G>T	ENSP00000337675:p.Asp122Tyr		A8K3N6|Q5Y8C7|Q6IB20|Q9BS76	Missense_Mutation	SNP	pirsf_Cancer-assoc_antigen_RCAS1	p.D122Y	ENST00000337573.5	37	c.364	CCDS6313.1	8	.	.	.	.	.	.	.	.	.	.	G	27.1	4.801463	0.90538	.	.	ENSG00000147654	ENST00000395785;ENST00000529931;ENST00000337573;ENST00000530629;ENST00000531677	.	.	.	5.75	5.75	0.90469	.	0.040396	0.85682	D	0.000000	T	0.61236	0.2331	L	0.36672	1.1	0.80722	D	1	P	0.51537	0.946	P	0.50825	0.651	T	0.63116	-0.6709	9	0.72032	D	0.01	-2.6109	19.2924	0.94105	0.0:0.0:1.0:0.0	.	122	O00559	RCAS1_HUMAN	Y	122;25;122;122;122	.	ENSP00000337675:D122Y	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	ENSG00000147654		0.338	EBAG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EBAG9	HGNC	protein_coding	OTTHUMT00000383536.1	-	0.00	67	0	G	NM_004215		110569206	+1	tier1	-	no_errors	ENST00000337573	ensembl	human	known	74_37	missense	5.63	67	4	SNP	1.000	T
ECHS1	1892	genome.wustl.edu	37	10	135183459	135183459	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr10:135183459G>T	ENST00000368547.3	-	3	718	c.363C>A	c.(361-363)gaC>gaA	p.D121E	MIR3944_ENST00000581277.1_RNA	NM_004092.3	NP_004083.3	P30084	ECHM_HUMAN	enoyl CoA hydratase, short chain, 1, mitochondrial	121				D -> G (in Ref. 1; BAA03001). {ECO:0000305}.	cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	enoyl-CoA hydratase activity (GO:0004300)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)	10		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;1.62e-06)|OV - Ovarian serous cystadenocarcinoma(35;5.75e-06)|Epithelial(32;7.58e-06)		GGGTGAGGTGGTCCCAGTGCT	0.527																																					GBM(132;1720 1771 5373 10277 21402)												0													189.0	155.0	166.0					10																	135183459		2203	4300	6503	SO:0001583	missense	0				CCDS7681.1	10q26.2-q26.3	2010-05-04	2010-04-30		ENSG00000127884	ENSG00000127884	4.2.1.17		3151	protein-coding gene	gene with protein product		602292	"""enoyl Coenzyme A hydratase, short chain, 1, mitochondrial"""			8012501	Standard	NM_004092		Approved	SCEH	uc001lmu.3	P30084	OTTHUMG00000019320	ENST00000368547.3:c.363C>A	10.37:g.135183459G>T	ENSP00000357535:p.Asp121Glu		O00739|Q5VWY1|Q96H54	Missense_Mutation	SNP	pfam_Crotonase_core_superfam	p.D121E	ENST00000368547.3	37	c.363	CCDS7681.1	10	.	.	.	.	.	.	.	.	.	.	G	4.227	0.040970	0.08196	.	.	ENSG00000127884	ENST00000368547	T	0.66460	-0.21	5.9	3.04	0.35103	Crotonase, core (1);	0.088382	0.85682	D	0.000000	T	0.40145	0.1105	N	0.11284	0.12	0.38879	D	0.956867	B	0.02656	0.0	B	0.04013	0.001	T	0.19516	-1.0303	10	0.08179	T	0.78	.	8.9302	0.35666	0.2409:0.0:0.7591:0.0	.	121	P30084	ECHM_HUMAN	E	121	ENSP00000357535:D121E	ENSP00000357535:D121E	D	-	3	2	ECHS1	135033449	0.999000	0.42202	0.807000	0.32361	0.076000	0.17211	2.213000	0.42844	0.837000	0.34925	0.555000	0.69702	GAC	ECHS1	-	pfam_Crotonase_core_superfam	ENSG00000127884		0.527	ECHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ECHS1	HGNC	protein_coding	OTTHUMT00000051156.1	-	0.00	58	0	G			135183459	-1	tier1	-	no_errors	ENST00000368547	ensembl	human	known	74_37	missense	10.00	45	5	SNP	0.971	T
ELL3	80237	genome.wustl.edu	37	15	44066533	44066533	+	Silent	SNP	G	G	A			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr15:44066533G>A	ENST00000319359.3	-	9	1526	c.885C>T	c.(883-885)caC>caT	p.H295H	ELL3_ENST00000497465.1_5'UTR|RP11-296A16.1_ENST00000417761.2_3'UTR|SERF2_ENST00000381359.1_5'Flank	NM_025165.2	NP_079441.1	Q9HB65	ELL3_HUMAN	elongation factor RNA polymerase II-like 3	295					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)		GTTCTGCACTGTGGATGGCCC	0.493																																																	0													139.0	111.0	121.0					15																	44066533		2198	4298	6496	SO:0001819	synonymous_variant	0			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.885C>T	15.37:g.44066533G>A			B3KQ66|B3KX08|Q6I9Z7|Q9H634	Silent	SNP	pfam_RNA_pol_II_elong_fac_ELL,pfam_Occludin_RNApol2_elong_fac_ELL	p.H295	ENST00000319359.3	37	c.885	CCDS10102.1	15																																																																																			ELL3	-	pfam_Occludin_RNApol2_elong_fac_ELL	ENSG00000128886		0.493	ELL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELL3	HGNC	protein_coding	OTTHUMT00000133236.2	-	0.00	47	0	G	NM_025165		44066533	-1	tier1	-	no_errors	ENST00000319359	ensembl	human	known	74_37	silent	7.69	48	4	SNP	0.952	A
ELMO1	9844	genome.wustl.edu	37	7	37256263	37256263	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr7:37256263G>A	ENST00000310758.4	-	11	1465	c.818C>T	c.(817-819)tCc>tTc	p.S273F	ELMO1_ENST00000448602.1_Missense_Mutation_p.S273F|ELMO1_ENST00000442504.1_Missense_Mutation_p.S273F	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	273					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						TAAAATGATGGAACGCAGTTG	0.463																																																	0													167.0	152.0	157.0					7																	37256263		2203	4300	6503	SO:0001583	missense	0			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.818C>T	7.37:g.37256263G>A	ENSP00000312185:p.Ser273Phe		A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Missense_Mutation	SNP	pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold	p.S273F	ENST00000310758.4	37	c.818	CCDS5449.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.79|14.79	2.641733|2.641733	0.47153|0.47153	.|.	.|.	ENSG00000155849|ENSG00000155849	ENST00000433246|ENST00000310758;ENST00000361912;ENST00000442504;ENST00000448602;ENST00000424212	.|T;T;T;T	.|0.32988	.|2.43;2.43;2.43;1.43	4.59|4.59	2.69|2.69	0.31865|0.31865	.|.	.|0.063998	.|0.64402	.|D	.|0.000004	T|T	0.34135|0.34135	0.0887|0.0887	M|M	0.63843|0.63843	1.955|1.955	0.80722|0.80722	D|D	1|1	.|B	.|0.33171	.|0.4	.|B	.|0.43680	.|0.427	T|T	0.21552|0.21552	-1.0242|-1.0242	5|10	.|0.56958	.|D	.|0.05	.|.	4.2069|4.2069	0.10493|0.10493	0.0885:0.1536:0.5879:0.17|0.0885:0.1536:0.5879:0.17	.|.	.|273	.|Q92556	.|ELMO1_HUMAN	S|F	53|273;177;273;273;14	.|ENSP00000312185:S273F;ENSP00000406952:S273F;ENSP00000394458:S273F;ENSP00000395933:S14F	.|ENSP00000312185:S273F	P|S	-|-	1|2	0|0	ELMO1|ELMO1	37222788|37222788	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.486000|2.486000	0.45259|0.45259	1.171000|1.171000	0.42768|0.42768	0.655000|0.655000	0.94253|0.94253	CCA|TCC	ELMO1	-	pfam_DUF3361	ENSG00000155849		0.463	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELMO1	HGNC	protein_coding	OTTHUMT00000219830.4	-	0.00	42	0	G	NM_130442		37256263	-1	tier1	-	no_errors	ENST00000310758	ensembl	human	known	74_37	missense	72.73	9	24	SNP	1.000	A
OPLAH	26873	genome.wustl.edu	37	8	145106131	145106131	+	IGR	SNP	C	C	T			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr8:145106131C>T	ENST00000426825.1	-	0	4008				CTD-3065J16.6_ENST00000528912.1_RNA|CTD-3065J16.6_ENST00000561181.1_RNA|OPLAH_ENST00000534424.1_5'Flank	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)						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)			GAGGGGCGCGCGGCTGGCGCG	0.642																																																	0																																										SO:0001628	intergenic_variant	0			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			8.37:g.145106131C>T			A5PKY8|Q75W65|Q9Y4Q0	RNA	SNP	-	NULL	ENST00000426825.1	37	NULL		8																																																																																			CTD-3065J16.6	-	-	ENSG00000204791		0.642	OPLAH-201	KNOWN	basic|appris_principal	protein_coding	ENSG00000204791	Clone_based_vega_gene	protein_coding		-	0.00	39	0	C	NM_017570		145106131	+1	tier1	-	no_errors	ENST00000528912	ensembl	human	known	74_37	rna	54.76	19	23	SNP	0.000	T
SH3PXD2B	285590	genome.wustl.edu	37	5	171866687	171866688	+	Intron	DEL	CA	CA	-	rs62387191|rs143250033|rs113620669|rs376203422		TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	CA	CA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr5:171866687_171866688delCA	ENST00000311601.5	-	1	246				SH3PXD2B_ENST00000519643.1_Intron|AC011407.1_ENST00000401308.1_RNA	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B						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)			TGCGTGCGCGcacgcgcgcgca	0.53																																																	0																																										SO:0001627	intron_variant	0			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.75+14593TG>-	5.37:g.171866687_171866688delCA			B6F0V2|Q9P2Q1	RNA	DEL	-	NULL	ENST00000311601.5	37	NULL	CCDS34291.1	5																																																																																			AC011407.1	-	-	ENSG00000216127		0.530	SH3PXD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000216127	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000372449.1		0.00	29	0	CA	NM_017963		171866688	-1	tier1		no_errors	ENST00000401308	ensembl	human	novel	74_37	rna	17.39	19	4	DEL	0.026:0.017	-
RP11-764K9.1	0	genome.wustl.edu	37	9	68400495	68400495	+	lincRNA	SNP	C	C	T			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr9:68400495C>T	ENST00000417843.2	-	0	1324																											tgtaaccaagcgagttataga	0.488																																																	0																																												0																															9.37:g.68400495C>T				RNA	SNP	-	NULL	ENST00000417843.2	37	NULL		9																																																																																			RP11-764K9.1	-	-	ENSG00000225411		0.488	RP11-764K9.1-001	KNOWN	basic	lincRNA	ENSG00000225411	Clone_based_vega_gene	lincRNA	OTTHUMT00000129817.2	-	0.00	16	0	C			68400495	-1	tier1	-	no_errors	ENST00000417843	ensembl	human	known	74_37	rna	45.45	6	5	SNP	0.113	T
FMNL1	752	genome.wustl.edu	37	17	43315899	43315899	+	Intron	SNP	G	G	T			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr17:43315899G>T	ENST00000331495.3	+	10	1230				FMNL1_ENST00000587489.1_5'Flank|FMNL1_ENST00000328118.3_Intron|CTD-2020K17.3_ENST00000587534.1_RNA|CTD-2020K17.3_ENST00000393507.2_RNA|FMNL1_ENST00000592006.1_Intron	NM_005892.3	NP_005883	O95466	FMNL_HUMAN	formin-like 1						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						GTGTGTCACTGGGCCTCAGTG	0.527																																					GBM(164;1247 1997 8702 11086 51972)												0													64.0	59.0	61.0					17																	43315899		2203	4300	6503	SO:0001627	intron_variant	0			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.895-32G>T	17.37:g.43315899G>T			D2DGW2|Q6DKG5|Q6IBP3|Q86UH1|Q8N671|Q8TDH1|Q96H10	RNA	SNP	-	NULL	ENST00000331495.3	37	NULL	CCDS11497.1	17																																																																																			CTD-2020K17.3	-	-	ENSG00000233175		0.527	FMNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000233175	Clone_based_vega_gene	protein_coding	OTTHUMT00000450198.1	-	0.00	65	0	G	NM_005892		43315899	-1	tier1	-	no_errors	ENST00000587534	ensembl	human	known	74_37	rna	5.26	72	4	SNP	0.001	T
FAM27B	100133121	genome.wustl.edu	37	9	67793766	67793766	+	Intron	DEL	A	A	-	rs372691371		TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr9:67793766delA	ENST00000377484.3	-	1	215				RP11-12A20.7_ENST00000315762.5_RNA			Q5VT28	FAM27_HUMAN	family with sequence similarity 27, member B																		acacaccaccaggcaacccct	0.587																																																	0																																										SO:0001627	intron_variant	0					9q13	2014-05-06			ENSG00000170215	ENSG00000278763			23667	other	unknown							Standard	NR_027422		Approved	bA12A20.3, FAM27A2	uc004aet.4	Q5VT28	OTTHUMG00000188586	ENST00000377484.3:c.78+130T>-	9.37:g.67793766delA				RNA	DEL	-	NULL	ENST00000377484.3	37	NULL		9																																																																																			RP11-12A20.7	-	-	ENSG00000236233		0.587	FAM27B-001	KNOWN	basic|appris_principal	protein_coding	ENSG00000236233	Clone_based_vega_gene	protein_coding	OTTHUMT00000037106.1		0.00	17	0	A	NR_027422		67793766	+1	tier1		no_errors	ENST00000315762	ensembl	human	known	74_37	rna	31.25	11	5	DEL	0.015	-
FAM90A1	55138	genome.wustl.edu	37	12	8382432	8382432	+	5'Flank	SNP	C	C	T			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr12:8382432C>T	ENST00000538603.1	-	0	0				FAM90A1_ENST00000307435.6_5'Flank|AC092111.1_ENST00000583174.1_RNA	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN	family with sequence similarity 90, member A1								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)		tgcaccaacccaatatgaaaa	0.378																																																	0																																										SO:0001631	upstream_gene_variant	0			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		12.37:g.8382432C>T	Exception_encountered		D3DUU9|Q9NVZ6	RNA	SNP	-	NULL	ENST00000538603.1	37	NULL	CCDS31738.1	12																																																																																			AC092111.1	-	-	ENSG00000266026		0.378	FAM90A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ENSG00000266026	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000400468.1	-	0.00	36	0	C	NM_018088		8382432	+1	tier1	-	no_errors	ENST00000583174	ensembl	human	novel	74_37	rna	10.91	49	6	SNP	0.017	T
EPHB3	2049	genome.wustl.edu	37	3	184299079	184299079	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr3:184299079A>G	ENST00000330394.2	+	15	3223	c.2771A>G	c.(2770-2772)tAc>tGc	p.Y924C	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	924					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)			GTCCCAGATTACACAACCTTC	0.557																																																	0													121.0	110.0	114.0					3																	184299079		2203	4300	6503	SO:0001583	missense	0			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.2771A>G	3.37:g.184299079A>G	ENSP00000332118:p.Tyr924Cys		Q7Z740	Missense_Mutation	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_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_N_dom,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_dom	p.Y924C	ENST00000330394.2	37	c.2771	CCDS3268.1	3	.	.	.	.	.	.	.	.	.	.	A	14.70	2.614258	0.46631	.	.	ENSG00000182580	ENST00000330394	T	0.50548	0.74	4.23	4.23	0.50019	Sterile alpha motif domain (1);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.61949	0.2388	M	0.64567	1.98	0.80722	D	1	D	0.69078	0.997	D	0.63113	0.911	T	0.66208	-0.5981	10	0.66056	D	0.02	.	13.218	0.59871	1.0:0.0:0.0:0.0	.	924	P54753	EPHB3_HUMAN	C	924	ENSP00000332118:Y924C	ENSP00000332118:Y924C	Y	+	2	0	EPHB3	185781773	1.000000	0.71417	0.895000	0.35142	0.924000	0.55760	3.476000	0.53143	1.872000	0.54250	0.448000	0.29417	TAC	EPHB3	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM	ENSG00000182580		0.557	EPHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHB3	HGNC	protein_coding	OTTHUMT00000345413.1		0.00	31	0	A	NM_004443		184299079	+1			no_errors	ENST00000330394	ensembl	human	known	74_37	missense	14.29	30	5	SNP	1.000	G
ETV4	2118	genome.wustl.edu	37	17	41622356	41622356	+	Silent	SNP	C	C	T			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr17:41622356C>T	ENST00000319349.5	-	4	487	c.189G>A	c.(187-189)acG>acA	p.T63T	ETV4_ENST00000538265.1_Silent_p.T24T|RP11-392O1.4_ENST00000588996.1_RNA|ETV4_ENST00000545954.1_Silent_p.T24T|ETV4_ENST00000545089.1_Silent_p.T63T|ETV4_ENST00000393664.2_Silent_p.T63T|ETV4_ENST00000591713.1_Silent_p.T63T	NM_001079675.2	NP_001073143.1	P43268	ETV4_HUMAN	ets variant 4	63	Asp/Glu-rich (acidic).				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)		CAGCGAGCCACGTCTCCTGGA	0.537			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													82.0	75.0	78.0					17																	41622356		2203	4300	6503	SO:0001819	synonymous_variant	0			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.189G>A	17.37:g.41622356C>T			A8K314|B7Z5J3|B7Z9J6|Q96AW9	Silent	SNP	pfam_ETS_PEA3_N,pfam_Ets_dom,smart_Ets_dom,prints_Ets_dom,pfscan_Ets_dom	p.T63	ENST00000319349.5	37	c.189	CCDS11465.1	17																																																																																			ETV4	-	pfam_ETS_PEA3_N	ENSG00000175832		0.537	ETV4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ETV4	HGNC	protein_coding	OTTHUMT00000453489.1	-	0.00	43	0	C	NM_001986		41622356	-1	tier1	-	no_errors	ENST00000319349	ensembl	human	known	74_37	silent	8.82	62	6	SNP	1.000	T
F2RL2	2151	genome.wustl.edu	37	5	75913661	75913661	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr5:75913661C>A	ENST00000296641.4	-	2	1074	c.871G>T	c.(871-873)Gca>Tca	p.A291S	IQGAP2_ENST00000502745.1_Intron|IQGAP2_ENST00000396234.3_Intron|IQGAP2_ENST00000379730.3_Intron|IQGAP2_ENST00000274364.6_Intron|F2RL2_ENST00000504899.1_Missense_Mutation_p.A269S	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													94.0	83.0	87.0					5																	75913661		2203	4300	6503	SO:0001583	missense	0			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>T	5.37:g.75913661C>A	ENSP00000296641:p.Ala291Ser		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	p.A291S	ENST00000296641.4	37	c.871	CCDS4031.1	5	.	.	.	.	.	.	.	.	.	.	C	0.551	-0.849408	0.02651	.	.	ENSG00000164220	ENST00000296641;ENST00000504899	T;T	0.36340	1.26;1.26	5.3	-2.55	0.06288	GPCR, rhodopsin-like superfamily (1);	0.805653	0.11562	N	0.551675	T	0.14313	0.0346	N	0.11364	0.135	0.09310	N	1	B	0.21071	0.051	B	0.19946	0.027	T	0.32268	-0.9913	10	0.10377	T	0.69	-0.1072	5.6326	0.17518	0.2134:0.3039:0.0:0.4827	.	291	O00254	PAR3_HUMAN	S	291;269	ENSP00000296641:A291S;ENSP00000426703:A269S	ENSP00000296641:A291S	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	ENSG00000164220		0.378	F2RL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F2RL2	HGNC	protein_coding	OTTHUMT00000219958.3		0.00	38	0	C			75913661	-1			no_errors	ENST00000296641	ensembl	human	known	74_37	missense	5.56	51	3	SNP	0.000	A
FAM102A	399665	genome.wustl.edu	37	9	130705463	130705463	+	3'UTR	SNP	C	C	A			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr9:130705463C>A	ENST00000373095.1	-	0	1538				RP11-203J24.8_ENST00000587355.1_RNA|RP11-203J24.8_ENST00000587978.1_RNA|RP11-203J24.8_ENST00000592240.1_RNA|RP11-203J24.8_ENST00000590283.1_RNA|RP11-203J24.8_ENST00000415141.2_RNA|RP11-203J24.8_ENST00000588890.1_RNA|RP11-203J24.8_ENST00000591408.1_RNA|FAM102A_ENST00000373084.4_3'UTR|RP11-203J24.8_ENST00000586374.1_RNA|RP11-203J24.8_ENST00000608805.1_RNA|FAM102A_ENST00000300434.3_5'UTR	NM_001035254.2	NP_001030331.1	Q5T9C2	F102A_HUMAN	family with sequence similarity 102, member A											breast(1)|cervix(1)|large_intestine(3)|lung(1)|ovary(4)	10						AGCCCGGACACCTGCTCCTCA	0.542											OREG0019513	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													125.0	105.0	112.0					9																	130705463		2203	4300	6503	SO:0001624	3_prime_UTR_variant	0				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.*8G>T	9.37:g.130705463C>A		1582	A2A329|Q8TEL4	RNA	SNP	-	NULL	ENST00000373095.1	37	NULL	CCDS35150.1	9																																																																																			FAM102A	-	-	ENSG00000167106		0.542	FAM102A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM102A	HGNC	protein_coding	OTTHUMT00000054298.2	-	0.00	50	0	C			130705463	-1	tier1	-	no_errors	ENST00000300434	ensembl	human	known	74_37	rna	51.06	23	24	SNP	0.023	A
FAM199X	139231	genome.wustl.edu	37	X	103420452	103420452	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chrX:103420452A>G	ENST00000493442.1	+	2	512	c.346A>G	c.(346-348)Agt>Ggt	p.S116G		NM_207318.3	NP_997201.1	Q6PEV8	F199X_HUMAN	family with sequence similarity 199, X-linked	116										breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						TCCTGAGGGGAGTGTCTGCAG	0.403																																																	0													166.0	131.0	143.0					X																	103420452		2203	4300	6503	SO:0001583	missense	0			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.346A>G	X.37:g.103420452A>G	ENSP00000417581:p.Ser116Gly		Q8WVP6|Q96AV3	Missense_Mutation	SNP	NULL	p.S116G	ENST00000493442.1	37	c.346	CCDS35364.1	X	.	.	.	.	.	.	.	.	.	.	A	22.2	4.256388	0.80246	.	.	ENSG00000123575	ENST00000493442	T	0.46063	0.88	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.56819	0.2011	L	0.57536	1.79	0.80722	D	1	P	0.52577	0.954	D	0.63597	0.916	T	0.55842	-0.8077	9	.	.	.	-1.6998	12.8183	0.57677	1.0:0.0:0.0:0.0	.	116	Q6PEV8	F199X_HUMAN	G	116	ENSP00000417581:S116G	.	S	+	1	0	FAM199X	103307108	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.284000	0.95882	1.685000	0.51034	0.486000	0.48141	AGT	FAM199X	-	NULL	ENSG00000123575		0.403	FAM199X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM199X	HGNC	protein_coding	OTTHUMT00000057764.1		0.00	37	0	A	NM_207318		103420452	+1			no_errors	ENST00000493442	ensembl	human	known	74_37	missense	5.06	74	4	SNP	1.000	G
FAM91A1	157769	genome.wustl.edu	37	8	124797873	124797873	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr8:124797873C>T	ENST00000334705.7	+	11	1100	c.854C>T	c.(853-855)gCt>gTt	p.A285V	FAM91A1_ENST00000521166.1_Missense_Mutation_p.A285V	NM_144963.2	NP_659400	Q658Y4	F91A1_HUMAN	family with sequence similarity 91, member A1	285										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)			TTTCAGAATGCTGTTTCAATG	0.313																																																	0													80.0	73.0	75.0					8																	124797873		1820	4072	5892	SO:0001583	missense	0			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.854C>T	8.37:g.124797873C>T	ENSP00000335082:p.Ala285Val		B6YY23|Q658T5|Q8TE89	Missense_Mutation	SNP	NULL	p.A285V	ENST00000334705.7	37	c.854	CCDS6346.2	8	.	.	.	.	.	.	.	.	.	.	C	35	5.426830	0.96131	.	.	ENSG00000176853	ENST00000521166;ENST00000334705	T;T	0.66460	-0.21;0.32	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	D	0.84160	0.5411	M	0.82517	2.595	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.85786	0.1364	10	0.87932	D	0	.	19.765	0.96335	0.0:1.0:0.0:0.0	.	285;285	E7ER68;Q658Y4	.;F91A1_HUMAN	V	285	ENSP00000429491:A285V;ENSP00000335082:A285V	ENSP00000335082:A285V	A	+	2	0	FAM91A1	124867054	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.733000	0.84916	2.748000	0.94277	0.552000	0.68991	GCT	FAM91A1	-	NULL	ENSG00000176853		0.313	FAM91A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM91A1	HGNC	protein_coding	OTTHUMT00000256607.1	-	0.00	49	0	C	NM_144963		124797873	+1	tier1	-	no_errors	ENST00000334705	ensembl	human	known	74_37	missense	7.84	47	4	SNP	1.000	T
FAP	2191	genome.wustl.edu	37	2	163027548	163027548	+	Missense_Mutation	SNP	T	T	A			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr2:163027548T>A	ENST00000188790.4	-	26	2431	c.2224A>T	c.(2224-2226)Aac>Tac	p.N742Y	AC007750.5_ENST00000418968.3_RNA|FAP_ENST00000443424.1_Missense_Mutation_p.N717Y|AC007750.5_ENST00000609668.1_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						TATAAGTGGTTCGTGGACAGG	0.428																																																	0													150.0	149.0	150.0					2																	163027548		2203	4300	6503	SO:0001583	missense	0			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.2224A>T	2.37:g.163027548T>A	ENSP00000188790:p.Asn742Tyr			Missense_Mutation	SNP	pfam_Peptidase_S9B,pfam_Peptidase_S9	p.N742Y	ENST00000188790.4	37	c.2224	CCDS33311.1	2	.	.	.	.	.	.	.	.	.	.	T	13.00	2.105328	0.37145	.	.	ENSG00000078098	ENST00000188790;ENST00000443424	T;T	0.29917	1.55;1.55	5.6	4.37	0.52481	Peptidase S9, prolyl oligopeptidase, catalytic domain (1);	0.511322	0.22145	N	0.063998	T	0.15219	0.0367	N	0.05199	-0.095	0.09310	N	1	B;B;B	0.10296	0.0;0.003;0.001	B;B;B	0.10450	0.0;0.005;0.005	T	0.14924	-1.0455	10	0.25106	T	0.35	-18.5458	11.5602	0.50772	0.1337:0.0:0.0:0.8663	.	717;221;742	B4DLR2;Q12884-2;Q12884	.;.;SEPR_HUMAN	Y	742;717	ENSP00000188790:N742Y;ENSP00000411391:N717Y	ENSP00000188790:N742Y	N	-	1	0	FAP	162735794	0.013000	0.17824	0.997000	0.53966	0.688000	0.40055	1.371000	0.34250	2.141000	0.66446	0.533000	0.62120	AAC	FAP	-	pfam_Peptidase_S9	ENSG00000078098		0.428	FAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAP	HGNC	protein_coding	OTTHUMT00000332852.2	-	0.00	43	0	T			163027548	-1	tier1	-	no_errors	ENST00000188790	ensembl	human	known	74_37	missense	25.71	26	9	SNP	0.037	A
FAT4	79633	genome.wustl.edu	37	4	126238185	126238185	+	Nonsense_Mutation	SNP	G	G	T			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr4:126238185G>T	ENST00000394329.3	+	1	632	c.619G>T	c.(619-621)Gga>Tga	p.G207*		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	207	Cadherin 2. {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						GTCCAAGGGCGGACTGGACCG	0.632											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													43.0	50.0	48.0					4																	126238185		2100	4223	6323	SO:0001587	stop_gained	0			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.619G>T	4.37:g.126238185G>T	ENSP00000377862:p.Gly207*	1548	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Nonsense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.G207*	ENST00000394329.3	37	c.619	CCDS3732.3	4	.	.	.	.	.	.	.	.	.	.	G	34	5.315425	0.95655	.	.	ENSG00000196159	ENST00000394329	.	.	.	5.31	4.47	0.54385	.	0.000000	0.34986	U	0.003538	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	.	9.4906	0.38958	0.0752:0.1429:0.7819:0.0	.	.	.	.	X	207	.	ENSP00000377862:G207X	G	+	1	0	FAT4	126457635	1.000000	0.71417	0.999000	0.59377	0.554000	0.35429	5.362000	0.66098	1.224000	0.43551	0.655000	0.94253	GGA	FAT4	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000196159		0.632	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT4	HGNC	protein_coding	OTTHUMT00000256765.2		0.00	42	0	G	NM_024582		126238185	+1			no_errors	ENST00000394329	ensembl	human	known	74_37	nonsense	11.54	23	3	SNP	1.000	T
FBXO34	55030	genome.wustl.edu	37	14	55818138	55818138	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr14:55818138G>A	ENST00000313833.4	+	2	1275	c.1030G>A	c.(1030-1032)Ggg>Agg	p.G344R	FBXO34_ENST00000440021.1_Missense_Mutation_p.G344R	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN	F-box protein 34	344										breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						GAATCCTGTGGGGTCTGTATC	0.532																																																	0													114.0	109.0	111.0					14																	55818138		2203	4300	6503	SO:0001583	missense	0			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.1030G>A	14.37:g.55818138G>A	ENSP00000313159:p.Gly344Arg		Q2VPB5|Q4VBP5|Q86TY4	Missense_Mutation	SNP	superfamily_F-box_dom,pfscan_F-box_dom	p.G344R	ENST00000313833.4	37	c.1030	CCDS32086.1	14	.	.	.	.	.	.	.	.	.	.	G	0.697	-0.792316	0.02884	.	.	ENSG00000178974	ENST00000313833;ENST00000440021	T;T	0.19394	2.15;2.15	5.34	4.46	0.54185	.	0.196970	0.30949	N	0.008548	T	0.17408	0.0418	L	0.44542	1.39	0.09310	N	1	B	0.13594	0.008	B	0.13407	0.009	T	0.13442	-1.0509	10	0.35671	T	0.21	-27.6628	8.9015	0.35497	0.0856:0.4058:0.5086:0.0	.	344	Q9NWN3	FBX34_HUMAN	R	344	ENSP00000313159:G344R;ENSP00000394117:G344R	ENSP00000313159:G344R	G	+	1	0	FBXO34	54887891	0.004000	0.15560	0.025000	0.17156	0.008000	0.06430	1.508000	0.35769	1.481000	0.48307	0.650000	0.86243	GGG	FBXO34	-	NULL	ENSG00000178974		0.532	FBXO34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO34	HGNC	protein_coding	OTTHUMT00000411322.1	-	0.00	31	0	G			55818138	+1	tier1	-	no_errors	ENST00000313833	ensembl	human	known	74_37	missense	35.29	22	12	SNP	0.003	A
FBXW7	55294	genome.wustl.edu	37	4	153252003	153252003	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr4:153252003G>A	ENST00000281708.4	-	7	2232	c.1003C>T	c.(1003-1005)Cac>Tac	p.H335Y	FBXW7_ENST00000263981.5_Missense_Mutation_p.H255Y|FBXW7_ENST00000296555.5_Missense_Mutation_p.H217Y|FBXW7_ENST00000393956.3_Missense_Mutation_p.H159Y|FBXW7_ENST00000603841.1_Missense_Mutation_p.H335Y|FBXW7_ENST00000603548.1_Missense_Mutation_p.H335Y	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	335					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)				CTCTTGATGTGCAATGGTTCA	0.348			"""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)											228.0	201.0	210.0					4																	153252003		2202	4300	6502	SO:0001583	missense	0			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.1003C>T	4.37:g.153252003G>A	ENSP00000281708:p.His335Tyr		B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_F-box_dom,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.H335Y	ENST00000281708.4	37	c.1003	CCDS3777.1	4	.	.	.	.	.	.	.	.	.	.	G	5.435	0.265317	0.10294	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.53857	0.6;0.6;0.6;0.6	6.16	6.16	0.99307	F-box domain, Skp2-like (1);	0.133483	0.64402	D	0.000002	T	0.34221	0.0890	N	0.11560	0.145	0.58432	D	0.999999	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	0.34601	-0.9822	10	0.02654	T	1	-18.6152	20.8598	0.99761	0.0:0.0:1.0:0.0	.	159;335;217;255	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	Y	335;217;255;159	ENSP00000281708:H335Y;ENSP00000296555:H217Y;ENSP00000263981:H255Y;ENSP00000377528:H159Y	ENSP00000263981:H255Y	H	-	1	0	FBXW7	153471453	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.681000	0.68175	2.937000	0.99478	0.650000	0.86243	CAC	FBXW7	-	superfamily_F-box_dom	ENSG00000109670		0.348	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXW7	HGNC	protein_coding	OTTHUMT00000469956.1	-	0.00	56	0	G			153252003	-1	tier1	-	no_errors	ENST00000281708	ensembl	human	known	74_37	missense	6.15	61	4	SNP	1.000	A
FNTA	2339	genome.wustl.edu	37	8	42919271	42919271	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr8:42919271C>T	ENST00000302279.3	+	3	508	c.314C>T	c.(313-315)gCt>gTt	p.A105V	FNTA_ENST00000529687.1_5'UTR|FNTA_ENST00000524546.1_3'UTR|RP11-598P20.5_ENST00000534420.1_Missense_Mutation_p.A62V|FNTA_ENST00000342116.4_Intron	NM_002027.2	NP_002018.1	P49354	FNTA_HUMAN	farnesyltransferase, CAAX box, alpha	105					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)			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)			TACTTCCGAGCTGTCCTGCAG	0.373																																																	0													191.0	180.0	184.0					8																	42919271		2203	4300	6503	SO:0001583	missense	0			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.314C>T	8.37:g.42919271C>T	ENSP00000303423:p.Ala105Val		A6NJW0|Q53XJ9|Q9UDC1	Missense_Mutation	SNP	pfam_Prenyl_trans_a,pfscan_Prenyl_trans_a	p.A105V	ENST00000302279.3	37	c.314	CCDS6140.1	8	.	.	.	.	.	.	.	.	.	.	C	33	5.254867	0.95336	.	.	ENSG00000254673;ENSG00000168522;ENSG00000168522;ENSG00000168522	ENST00000534420;ENST00000302279;ENST00000531266;ENST00000533336	.	.	.	5.05	5.05	0.67936	Protein prenyltransferase (1);	0.000000	0.85682	D	0.000000	T	0.80127	0.4566	M	0.81341	2.54	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.94	T	0.83273	-0.0042	9	0.87932	D	0	-14.1958	15.8992	0.79359	0.0:1.0:0.0:0.0	.	14;105	A8MVX8;P49354	.;FNTA_HUMAN	V	62;105;87;43	.	ENSP00000303423:A105V	A	+	2	0	FNTA;RP11-598P20.5	43038428	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.565000	0.82337	2.335000	0.79485	0.555000	0.69702	GCT	FNTA	-	NULL	ENSG00000168522		0.373	FNTA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FNTA	HGNC	protein_coding	OTTHUMT00000383178.1	-	0.00	60	0	C	NM_002027		42919271	+1	tier1	-	no_errors	ENST00000302279	ensembl	human	known	74_37	missense	6.45	58	4	SNP	1.000	T
FOLH1B	219595	genome.wustl.edu	37	11	89392887	89392887	+	RNA	SNP	C	C	A			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr11:89392887C>A	ENST00000532352.1	+	0	710							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						GGTTACCCAGCAAATGGTGAG	0.423																																																	0																																												0			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.89392887C>A				RNA	SNP	-	NULL	ENST00000532352.1	37	NULL		11																																																																																			FOLH1B	-	-	ENSG00000134612		0.423	FOLH1B-004	KNOWN	basic	processed_transcript	FOLH1B	HGNC	pseudogene	OTTHUMT00000395421.1	-	0.00	98	0	C	NM_153696		89392887	+1	tier1	-	no_errors	ENST00000525540	ensembl	human	known	74_37	rna	33.33	66	33	SNP	1.000	A
FREM3	166752	genome.wustl.edu	37	4	144618921	144618921	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr4:144618921C>A	ENST00000329798.5	-	1	2907	c.2908G>T	c.(2908-2910)Ggt>Tgt	p.G970C	RP13-578N3.3_ENST00000499587.2_RNA	NM_001168235.1	NP_001161707.1	P0C091	FREM3_HUMAN	FRAS1 related extracellular matrix 3	970					cell adhesion (GO:0007155)|cell communication (GO:0007154)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|prostate(1)	8						TGGATGACACCCATGGTAATT	0.423																																																	0													96.0	82.0	86.0					4																	144618921		692	1591	2283	SO:0001583	missense	0			BX091796	CCDS54808.1	4q31.21	2011-06-09			ENSG00000183090	ENSG00000183090			25172	protein-coding gene	gene with protein product		608946				15345741	Standard	NM_001168235		Approved		uc021xsj.1	P0C091	OTTHUMG00000161577	ENST00000329798.5:c.2908G>T	4.37:g.144618921C>A	ENSP00000332886:p.Gly970Cys			Missense_Mutation	SNP	pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta	p.G970C	ENST00000329798.5	37	c.2908	CCDS54808.1	4	.	.	.	.	.	.	.	.	.	.	C	12.76	2.035007	0.35893	.	.	ENSG00000183090	ENST00000329798	T	0.51574	0.7	4.33	4.33	0.51752	.	0.356193	0.29002	N	0.013457	T	0.47875	0.1469	L	0.56769	1.78	0.09310	N	1	.	.	.	.	.	.	T	0.48906	-0.8993	8	0.62326	D	0.03	-0.8629	5.3802	0.16187	0.2017:0.6963:0.0:0.102	.	.	.	.	C	970	ENSP00000332886:G970C	ENSP00000332886:G970C	G	-	1	0	FREM3	144838371	0.059000	0.20769	0.020000	0.16555	0.815000	0.46073	1.196000	0.32198	2.229000	0.72834	0.655000	0.94253	GGT	FREM3	-	NULL	ENSG00000183090		0.423	FREM3-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	FREM3	HGNC	protein_coding	OTTHUMT00000365391.1	-	0.00	33	0	C	XM_094074		144618921	-1	tier1	-	no_errors	ENST00000329798	ensembl	human	putative	74_37	missense	40.00	15	10	SNP	0.220	A
FRG1B	284802	genome.wustl.edu	37	20	29631557	29631557	+	Missense_Mutation	SNP	A	A	G	rs11525721		TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr20:29631557A>G	ENST00000278882.3	+	7	733	c.353A>G	c.(352-354)aAa>aGa	p.K118R	FRG1B_ENST00000358464.4_Missense_Mutation_p.K118R			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	118								p.K118R(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TGTGCTGAAAAAGAAACCAAG	0.333																																																	2	Substitution - Missense(2)	endometrium(2)																																								SO:0001583	missense	0					20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.353A>G	20.37:g.29631557A>G	ENSP00000278882:p.Lys118Arg		C4AME5	Missense_Mutation	SNP	pfam_FRG1,superfamily_Actin_cross-linking	p.K118R	ENST00000278882.3	37	c.353		20	.	.	.	.	.	.	.	.	.	.	a	0.014	-1.602257	0.00849	.	.	ENSG00000149531	ENST00000278882;ENST00000358464	.	.	.	2.03	1.07	0.20283	.	0.100689	0.64402	N	0.000003	T	0.12475	0.0303	.	.	.	0.22378	N	0.999156	B	0.02656	0.0	B	0.01281	0.0	T	0.34079	-0.9843	8	0.02654	T	1	.	7.0418	0.25025	0.1556:0.0:0.8444:0.0	rs11525721	118	Q9BZ01	FRG1B_HUMAN	R	118	.	ENSP00000278882:K118R	K	+	2	0	FRG1B	28245218	1.000000	0.71417	0.998000	0.56505	0.630000	0.37929	4.500000	0.60387	0.419000	0.25927	-0.343000	0.07986	AAA	FRG1B	-	pfam_FRG1	ENSG00000149531		0.333	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	FRG1B	HGNC	protein_coding	OTTHUMT00000078494.2		0.00	30	0	A	NR_003579		29631557	+1			no_errors	ENST00000278882	ensembl	human	known	74_37	missense	11.36	39	5	SNP	1.000	G
FRYL	285527	genome.wustl.edu	37	4	48567600	48567600	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr4:48567600C>T	ENST00000503238.1	-	26	3277	c.3278G>A	c.(3277-3279)aGa>aAa	p.R1093K	FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000358350.4_Missense_Mutation_p.R1093K|FRYL_ENST00000507711.1_Missense_Mutation_p.R1093K|FRYL_ENST00000537810.1_Missense_Mutation_p.R1093K			O94915	FRYL_HUMAN	FRY-like	1093					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						ATCACTGTATCTGTCCAAGGG	0.368																																																	0													101.0	93.0	96.0					4																	48567600		1865	4104	5969	SO:0001583	missense	0			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.3278G>A	4.37:g.48567600C>T	ENSP00000426064:p.Arg1093Lys		O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.R1093K	ENST00000503238.1	37	c.3278	CCDS43227.1	4	.	.	.	.	.	.	.	.	.	.	C	34	5.379259	0.95945	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000507711	T;T;T;T	0.49432	1.78;1.78;1.78;0.78	5.9	5.9	0.94986	Armadillo-type fold (1);	0.000000	0.64402	U	0.000001	T	0.52075	0.1712	N	0.12569	0.235	0.80722	D	1	D;D	0.69078	0.959;0.997	P;D	0.65684	0.579;0.937	T	0.53215	-0.8470	10	0.35671	T	0.21	.	20.2704	0.98474	0.0:1.0:0.0:0.0	.	1093;1093	F2Z2S2;O94915	.;FRYL_HUMAN	K	1093	ENSP00000426064:R1093K;ENSP00000351113:R1093K;ENSP00000441114:R1093K;ENSP00000421584:R1093K	ENSP00000351113:R1093K	R	-	2	0	FRYL	48262357	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.793000	0.96121	0.591000	0.81541	AGA	FRYL	-	superfamily_ARM-type_fold	ENSG00000075539		0.368	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FRYL	HGNC	protein_coding	OTTHUMT00000369265.2	-	0.00	34	0	C			48567600	-1	tier1	-	no_errors	ENST00000358350	ensembl	human	known	74_37	missense	11.11	32	4	SNP	1.000	T
FZD2	2535	genome.wustl.edu	37	17	42636197	42636197	+	Missense_Mutation	SNP	G	G	T	rs530531830		TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr17:42636197G>T	ENST00000315323.3	+	1	1273	c.1141G>T	c.(1141-1143)Gcc>Tcc	p.A381S		NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN	frizzled class receptor 2	381					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)		GGCCGTGCCGGCCGTCAAGAC	0.677																																																	0													67.0	67.0	67.0					17																	42636197		2203	4299	6502	SO:0001583	missense	0			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.1141G>T	17.37:g.42636197G>T	ENSP00000323901:p.Ala381Ser		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.A381S	ENST00000315323.3	37	c.1141	CCDS11484.1	17	.	.	.	.	.	.	.	.	.	.	g	19.22	3.786552	0.70337	.	.	ENSG00000180340	ENST00000541149;ENST00000315323	D	0.82081	-1.57	5.0	5.0	0.66597	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	D	0.89989	0.6875	M	0.71296	2.17	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	D	0.88611	0.3156	10	0.31617	T	0.26	.	17.9002	0.88901	0.0:0.0:1.0:0.0	.	381	Q14332	FZD2_HUMAN	S	457;381	ENSP00000323901:A381S	ENSP00000323901:A381S	A	+	1	0	FZD2	39991723	1.000000	0.71417	0.968000	0.41197	0.969000	0.65631	9.860000	0.99555	2.291000	0.77112	0.561000	0.74099	GCC	FZD2	-	pfam_Frizzled,pfscan_GPCR_2-like,prints_Frizzled	ENSG00000180340		0.677	FZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FZD2	HGNC	protein_coding	OTTHUMT00000457806.1	-	0.00	34	0	G	NM_001466		42636197	+1	tier1	-	no_errors	ENST00000315323	ensembl	human	known	74_37	missense	41.03	23	16	SNP	1.000	T
GFPT1	2673	genome.wustl.edu	37	2	69614290	69614290	+	5'UTR	SNP	G	G	C			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr2:69614290G>C	ENST00000357308.4	-	0	92				GFPT1_ENST00000361060.5_5'UTR|GFPT1_ENST00000494201.1_5'UTR	NM_001244710.1	NP_001231639.1	Q06210	GFPT1_HUMAN	glutamine--fructose-6-phosphate transaminase 1						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						GCAATCTGCGGGCTCGGGGGC	0.726																																																	0													2.0	4.0	4.0					2																	69614290		412	1214	1626	SO:0001623	5_prime_UTR_variant	0				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.-87C>G	2.37:g.69614290G>C			Q53QE6|Q9BXF8	RNA	SNP	-	NULL	ENST00000357308.4	37	NULL	CCDS58713.1	2																																																																																			GFPT1	-	-	ENSG00000198380		0.726	GFPT1-201	KNOWN	basic|CCDS	protein_coding	GFPT1	HGNC	protein_coding		-	0.00	10	0	G			69614290	-1	tier1	-	no_errors	ENST00000494201	ensembl	human	known	74_37	rna	83.33	2	10	SNP	0.000	C
GNA12	2768	genome.wustl.edu	37	7	2854518	2854518	+	Intron	SNP	C	C	T			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr7:2854518C>T	ENST00000275364.3	-	2	472				GNA12_ENST00000544127.1_Intron|GNA12_ENST00000407904.3_Missense_Mutation_p.G16D	NM_007353.2	NP_031379.2	Q03113	GNA12_HUMAN	guanine nucleotide binding protein (G protein) alpha 12						adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|embryonic digit morphogenesis (GO:0042733)|G-protein coupled receptor signaling pathway (GO:0007186)|in utero embryonic development (GO:0001701)|platelet activation (GO:0030168)|regulation of cell shape (GO:0008360)|regulation of fibroblast migration (GO:0010762)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|regulation of TOR signaling (GO:0032006)|response to drug (GO:0042493)|Rho protein signal transduction (GO:0007266)	brush border membrane (GO:0031526)|focal adhesion (GO:0005925)|heterotrimeric G-protein complex (GO:0005834)|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)			endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.02e-13)		CACACGACTGCCAGGCATCCT	0.592																																																	0													20.0	17.0	18.0					7																	2854518		876	1991	2867	SO:0001627	intron_variant	0			L01694	CCDS5335.1, CCDS64584.1, CCDS64583.1	7p22.3	2006-07-08			ENSG00000146535	ENSG00000146535			4380	protein-coding gene	gene with protein product		604394				8423800, 16247467	Standard	NM_007353		Approved	gep	uc003smu.3	Q03113	OTTHUMG00000023064	ENST00000275364.3:c.310-19741G>A	7.37:g.2854518C>T			A4D204|B3KXS2|B7Z3F7|Q2T9L1|Q5PPR5|Q86UM8|Q8TD71|Q9UDU9	Missense_Mutation	SNP	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_12	p.G16D	ENST00000275364.3	37	c.47	CCDS5335.1	7	.	.	.	.	.	.	.	.	.	.	C	6.247	0.413741	0.11812	.	.	ENSG00000146535	ENST00000407904;ENST00000447791	D	0.85773	-2.03	2.25	-1.22	0.09494	.	.	.	.	.	T	0.72946	0.3524	.	.	.	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.60490	-0.7253	8	0.87932	D	0	.	0.7069	0.00917	0.2465:0.3539:0.2315:0.1681	.	16	B3KXS2	.	D	16	ENSP00000385935:G16D	ENSP00000385935:G16D	G	-	2	0	GNA12	2821044	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.252000	0.08806	-0.313000	0.08728	0.655000	0.94253	GGC	GNA12	-	NULL	ENSG00000146535		0.592	GNA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNA12	HGNC	protein_coding	OTTHUMT00000241608.1	-	0.00	20	0	C	NM_007353		2854518	-1	tier1	-	no_errors	ENST00000407904	ensembl	human	putative	74_37	missense	17.24	24	5	SNP	0.000	T
GPR137B	7107	genome.wustl.edu	37	1	236306259	236306259	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr1:236306259G>A	ENST00000366592.3	+	1	428	c.337G>A	c.(337-339)Gtc>Atc	p.V113I	GPR137B_ENST00000366591.4_Missense_Mutation_p.V113I	NM_003272.3	NP_003263.1	O60478	G137B_HUMAN	G protein-coupled receptor 137B	113						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)			CAGCCCCTTCGTCTTCTGGCT	0.557																																																	0													139.0	133.0	135.0					1																	236306259		2203	4300	6503	SO:0001583	missense	0			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.337G>A	1.37:g.236306259G>A	ENSP00000355551:p.Val113Ile		Q53EK7|Q5TAE6|Q6FHI3	Missense_Mutation	SNP	NULL	p.V113I	ENST00000366592.3	37	c.337	CCDS1609.1	1	.	.	.	.	.	.	.	.	.	.	G	11.45	1.643190	0.29246	.	.	ENSG00000077585	ENST00000366592;ENST00000366591;ENST00000391852	T;D	0.91295	1.98;-2.82	4.89	2.93	0.34026	.	0.636933	0.16938	N	0.193396	T	0.76659	0.4018	N	0.08118	0	0.31491	N	0.665955	B	0.06786	0.001	B	0.04013	0.001	T	0.66492	-0.5910	10	0.17832	T	0.49	-12.9181	6.2427	0.20800	0.1554:0.3052:0.5394:0.0	.	113	O60478	G137B_HUMAN	I	113;113;112	ENSP00000355551:V113I;ENSP00000355550:V113I	ENSP00000355550:V113I	V	+	1	0	GPR137B	234372882	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	0.899000	0.28417	0.428000	0.26173	0.549000	0.68633	GTC	GPR137B	-	NULL	ENSG00000077585		0.557	GPR137B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR137B	HGNC	protein_coding	OTTHUMT00000092761.1	-	0.00	23	0	G	NM_003272		236306259	+1	tier1	-	no_errors	ENST00000366592	ensembl	human	known	74_37	missense	16.00	21	4	SNP	1.000	A
GRK1	6011	genome.wustl.edu	37	13	114321951	114321951	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr13:114321951C>T	ENST00000335678.6	+	1	482	c.250C>T	c.(250-252)Ccg>Tcg	p.P84S		NM_002929.2	NP_002920.1	Q15835	RK_HUMAN	G protein-coupled receptor kinase 1	84	N-terminal.|RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				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)	p.P84S(1)		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)			GAAGCACCTGCCGGCCCTGGA	0.592																																																	1	Substitution - Missense(1)	skin(1)											44.0	48.0	47.0					13																	114321951		2029	4191	6220	SO:0001583	missense	0					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.250C>T	13.37:g.114321951C>T	ENSP00000334876:p.Pro84Ser		Q53X14	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RGS_dom,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Regulat_G_prot_signal_superfam,pfscan_Prot_kinase_dom,prints_GPCR_kinase	p.P84S	ENST00000335678.6	37	c.250		13	.	.	.	.	.	.	.	.	.	.	C	4.562	0.104449	0.08731	.	.	ENSG00000185974	ENST00000335678	T	0.02197	4.4	5.1	5.1	0.69264	Regulator of G protein signalling (3);Regulator of G protein signalling superfamily (1);	0.168787	0.52532	D	0.000061	T	0.06188	0.0160	.	.	.	0.45979	D	0.998793	D	0.69078	0.997	P	0.60886	0.88	T	0.56092	-0.8036	9	0.10111	T	0.7	-39.2791	16.0324	0.80588	0.0:1.0:0.0:0.0	.	84	Q15835	RK_HUMAN	S	84	ENSP00000334876:P84S	ENSP00000334876:P84S	P	+	1	0	GRK1	113369952	0.978000	0.34361	0.271000	0.24616	0.061000	0.15899	3.765000	0.55272	2.357000	0.79964	0.561000	0.74099	CCG	GRK1	-	pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam	ENSG00000185974		0.592	GRK1-001	KNOWN	basic|appris_principal	protein_coding	GRK1	HGNC	protein_coding	OTTHUMT00000470655.1		0.00	48	0	C	NM_002929		114321951	+1			no_errors	ENST00000335678	ensembl	human	known	74_37	missense	6.45	29	2	SNP	0.959	T
H2AFY	9555	genome.wustl.edu	37	5	134679025	134679025	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr5:134679025G>A	ENST00000511689.1	-	8	1471	c.878C>T	c.(877-879)aCa>aTa	p.T293I	H2AFY_ENST00000512507.1_5'UTR|H2AFY_ENST00000304332.4_Missense_Mutation_p.T292I|H2AFY_ENST00000423969.2_Missense_Mutation_p.T121I|H2AFY_ENST00000510038.1_Missense_Mutation_p.T293I|H2AFY_ENST00000312469.4_Missense_Mutation_p.T290I|CTC-349C3.1_ENST00000432382.3_Missense_Mutation_p.V103I	NM_001040158.1|NM_138610.2	NP_001035248.1|NP_613258.2	O75367	H2AY_HUMAN	H2A histone family, member Y	293	Macro. {ECO:0000255|PROSITE- ProRule:PRU00490}.				chromatin modification (GO:0016568)|dosage compensation (GO:0007549)|establishment of protein localization to chromatin (GO:0071169)|negative regulation of cell cycle G2/M phase transition (GO:1902750)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of histone phosphorylation (GO:0033128)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901837)|nucleosome assembly (GO:0006334)	Barr body (GO:0001740)|condensed chromosome (GO:0000793)|extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleosome (GO:0000786)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|sex chromatin (GO:0001739)	chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|double-stranded methylated DNA binding (GO:0010385)|protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|rDNA binding (GO:0000182)|transcription regulatory region DNA binding (GO:0044212)			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GTTTTTCACTGTCTTTTCCAG	0.507																																																	0													161.0	153.0	156.0					5																	134679025		2203	4300	6503	SO:0001583	missense	0			AF054174	CCDS4183.1, CCDS4184.1, CCDS4185.1	5q31.1	2011-01-27			ENSG00000113648	ENSG00000113648		"""Histones / Replication-independent"""	4740	protein-coding gene	gene with protein product		610054				9653160, 9714746	Standard	NM_004893		Approved	macroH2A1.2	uc003lam.1	O75367	OTTHUMG00000129141	ENST00000511689.1:c.878C>T	5.37:g.134679025G>A	ENSP00000423563:p.Thr293Ile		O75377|Q503A8|Q7Z5E3|Q96D41|Q9H8P3|Q9UP96	Missense_Mutation	SNP	pfam_Macro_dom,pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H2A,smart_Macro_dom,pirsf_Core_histone_macro-H2A,prints_Histone_H2A,pfscan_Macro_dom	p.T293I	ENST00000511689.1	37	c.878	CCDS4185.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.8|29.8	5.039890|5.039890	0.93630|0.93630	.|.	.|.	ENSG00000113648|ENSG00000224186	ENST00000511689;ENST00000304332;ENST00000312469;ENST00000423969;ENST00000510038|ENST00000432382	T;T;T;T;T|.	0.21932|.	1.98;1.98;1.98;1.98;1.98|.	5.75|5.75	5.75|5.75	0.90469|0.90469	Appr-1-p processing (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73032|0.73032	0.3535|0.3535	L|L	0.49126|0.49126	1.545|1.545	0.80722|0.80722	D|D	1|1	P;D;D;D|.	0.71674|.	0.868;0.976;0.998;0.981|.	D;P;D;P|.	0.83275|.	0.921;0.528;0.996;0.659|.	T|T	0.74016|0.74016	-0.3800|-0.3800	10|6	0.72032|0.87932	D|D	0.01|0	.|.	19.942|19.942	0.97168|0.97168	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	121;292;290;293|.	B4DJC3;O75367-3;O75367-2;O75367|.	.;.;.;H2AY_HUMAN|.	I|I	293;292;290;121;293|103	ENSP00000423563:T293I;ENSP00000302572:T292I;ENSP00000310169:T290I;ENSP00000415121:T121I;ENSP00000424971:T293I|.	ENSP00000302572:T292I|ENSP00000402151:V103I	T|V	-|+	2|1	0|0	H2AFY|CTC-203F4.1	134706924|134706924	1.000000|1.000000	0.71417|0.71417	0.990000|0.990000	0.47175|0.47175	0.993000|0.993000	0.82548|0.82548	9.790000|9.790000	0.99075|0.99075	2.714000|2.714000	0.92807|0.92807	0.561000|0.561000	0.74099|0.74099	ACA|GTC	H2AFY	-	pfam_Macro_dom,smart_Macro_dom,pirsf_Core_histone_macro-H2A,pfscan_Macro_dom	ENSG00000113648		0.507	H2AFY-001	KNOWN	basic|CCDS	protein_coding	H2AFY	HGNC	protein_coding	OTTHUMT00000251196.3	-	0.00	77	0	G	NM_004893		134679025	-1	tier1	-	no_errors	ENST00000511689	ensembl	human	known	74_37	missense	5.19	73	4	SNP	1.000	A
HARS	3035	genome.wustl.edu	37	5	140070819	140070819	+	Missense_Mutation	SNP	T	T	G			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr5:140070819T>G	ENST00000504156.1	-	1	790	c.71A>C	c.(70-72)cAg>cCg	p.Q24P	HARS2_ENST00000435019.2_5'Flank|HARS2_ENST00000437649.2_5'Flank|HARS_ENST00000438307.2_Missense_Mutation_p.Q24P|HARS_ENST00000307633.3_Missense_Mutation_p.Q24P|HARS2_ENST00000508522.1_5'Flank|HARS_ENST00000431330.2_Missense_Mutation_p.Q24P|HARS2_ENST00000230771.3_5'Flank|HARS2_ENST00000448069.2_5'Flank|HARS_ENST00000457527.2_Missense_Mutation_p.Q24P|HARS_ENST00000448240.1_5'UTR|HARS_ENST00000415192.2_Missense_Mutation_p.Q24P|HARS2_ENST00000432671.2_5'Flank	NM_002109.4	NP_002100.2	P12081	SYHC_HUMAN	histidyl-tRNA synthetase	24	WHEP-TRS.				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)	GCTGGCCTTCTGCTGCTTGAG	0.637																																																	0													41.0	34.0	36.0					5																	140070819		2203	4300	6503	SO:0001583	missense	0			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.71A>C	5.37:g.140070819T>G	ENSP00000425634:p.Gln24Pro		B4DHQ1|B4DY73|D6REN6|J3KNE5	Missense_Mutation	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.Q24P	ENST00000504156.1	37	c.71	CCDS4237.1	5	.	.	.	.	.	.	.	.	.	.	t	18.45	3.626811	0.66901	.	.	ENSG00000170445	ENST00000504156;ENST00000457527;ENST00000431330;ENST00000307633;ENST00000438307;ENST00000415192;ENST00000507746	T;T;T;T;T;T;T	0.31769	1.48;1.48;1.48;1.48;1.48;1.48;1.48	5.55	5.55	0.83447	WHEP-TRS (3);S15/NS1, RNA-binding (2);	0.602793	0.18266	N	0.146474	T	0.43831	0.1265	L	0.53249	1.67	0.80722	D	1	D;P;P;B;B;B;B;B	0.59357	0.985;0.586;0.586;0.0;0.001;0.0;0.0;0.0	P;B;B;B;B;B;B;B	0.57468	0.821;0.303;0.303;0.001;0.003;0.003;0.001;0.001	T	0.10941	-1.0608	10	0.17832	T	0.49	-2.2198	14.8147	0.70024	0.0:0.0:0.0:1.0	.	24;24;24;24;24;24;24;24	B4DEA2;B4E1C5;B4DDD8;B4DHQ1;B4DY73;Q52NV4;D6REN6;P12081	.;.;.;.;.;.;.;SYHC_HUMAN	P	24	ENSP00000425634:Q24P;ENSP00000387893:Q24P;ENSP00000393244:Q24P;ENSP00000304668:Q24P;ENSP00000411511:Q24P;ENSP00000411085:Q24P;ENSP00000425889:Q24P	ENSP00000304668:Q24P	Q	-	2	0	HARS	140051003	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	3.572000	0.53849	2.333000	0.79357	0.533000	0.62120	CAG	HARS	-	pfam_WHEP-TRS,superfamily_S15_NS1_RNA-bd,pfscan_WHEP-TRS	ENSG00000170445		0.637	HARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HARS	HGNC	protein_coding	OTTHUMT00000251673.2	-	0.00	47	0	T	NM_002109		140070819	-1	tier1	-	no_errors	ENST00000504156	ensembl	human	known	74_37	missense	13.89	31	5	SNP	1.000	G
HIVEP1	3096	genome.wustl.edu	37	6	12130057	12130057	+	Silent	SNP	C	C	T			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr6:12130057C>T	ENST00000379388.2	+	5	6473	c.6141C>T	c.(6139-6141)aaC>aaT	p.N2047N	HIVEP1_ENST00000541134.1_Intron	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	2047					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)				CTGAAATTAACAGTGAGCAAG	0.294																																																	0													61.0	57.0	58.0					6																	12130057		1808	4072	5880	SO:0001819	synonymous_variant	0			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.6141C>T	6.37:g.12130057C>T			B2RTU3|Q14122|Q5MPB1|Q5VW60	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.N2047	ENST00000379388.2	37	c.6141	CCDS43426.1	6																																																																																			HIVEP1	-	NULL	ENSG00000095951		0.294	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIVEP1	HGNC	protein_coding	OTTHUMT00000039870.2	-	0.00	38	0	C	NM_002114		12130057	+1	tier1	-	no_errors	ENST00000379388	ensembl	human	known	74_37	silent	6.56	57	4	SNP	1.000	T
HNF4A	3172	genome.wustl.edu	37	20	43043180	43043180	+	Missense_Mutation	SNP	A	A	C			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr20:43043180A>C	ENST00000316099.4	+	5	615	c.526A>C	c.(526-528)Att>Ctt	p.I176L	HNF4A_ENST00000415691.2_Missense_Mutation_p.I176L|HNF4A_ENST00000457232.1_Missense_Mutation_p.I154L|HNF4A_ENST00000609795.1_Missense_Mutation_p.I154L|HNF4A_ENST00000316673.4_Missense_Mutation_p.I154L|HNF4A_ENST00000443598.2_Missense_Mutation_p.I176L	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	176					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)			CAACGGCGACATTCGGGCGAA	0.572																																					Colon(79;2 1269 8820 14841 52347)												0													100.0	84.0	89.0					20																	43043180		2203	4300	6503	SO:0001583	missense	0			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.526A>C	20.37:g.43043180A>C	ENSP00000312987:p.Ile176Leu		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.I176L	ENST00000316099.4	37	c.526	CCDS13330.1	20	.	.	.	.	.	.	.	.	.	.	A	5.028	0.190877	0.09547	.	.	ENSG00000101076	ENST00000316673;ENST00000457232;ENST00000316099;ENST00000443598;ENST00000338692;ENST00000415691	D;D;D;D;D	0.94046	-3.34;-3.34;-3.34;-3.34;-3.34	5.64	5.64	0.86602	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (1);	0.118121	0.53938	U	0.000041	D	0.85358	0.5678	N	0.10874	0.06	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	0.10450	0.005;0.003;0.002;0.003;0.003;0.002;0.003	T	0.81075	-0.1097	10	0.11182	T	0.66	.	15.8542	0.78965	1.0:0.0:0.0:0.0	.	169;176;176;176;154;154;154	Q5QPB7;P41235;F1D8S2;P41235-3;F1D8T0;P41235-6;P41235-7	.;HNF4A_HUMAN;.;.;.;.;.	L	154;154;176;176;206;176	ENSP00000315180:I154L;ENSP00000396216:I154L;ENSP00000312987:I176L;ENSP00000410911:I176L;ENSP00000412111:I176L	ENSP00000312987:I176L	I	+	1	0	HNF4A	42476594	1.000000	0.71417	0.981000	0.43875	0.265000	0.26407	5.123000	0.64703	2.144000	0.66660	0.460000	0.39030	ATT	HNF4A	-	superfamily_Nucl_hormone_rcpt_ligand-bd	ENSG00000101076		0.572	HNF4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HNF4A	HGNC	protein_coding	OTTHUMT00000079363.3		0.00	21	0	A			43043180	+1			no_errors	ENST00000316099	ensembl	human	known	74_37	missense	8.96	61	6	SNP	1.000	C
HRNR	388697	genome.wustl.edu	37	1	152186614	152186614	+	Silent	SNP	C	C	G			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr1:152186614C>G	ENST00000368801.2	-	3	7566	c.7491G>C	c.(7489-7491)tcG>tcC	p.S2497S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2497					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)			GGCCACAGCTCGATGACTGTC	0.557																																																	0													1.0	1.0	1.0					1																	152186614		84	271	355	SO:0001819	synonymous_variant	0			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.7491G>C	1.37:g.152186614C>G			Q5DT20|Q5U1F4	Silent	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom	p.S2497	ENST00000368801.2	37	c.7491	CCDS30859.1	1																																																																																			HRNR	-	NULL	ENSG00000197915		0.557	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRNR	HGNC	protein_coding	OTTHUMT00000034016.1	-	0.00	18	0	C	XM_373868		152186614	-1	tier1	-	no_errors	ENST00000368801	ensembl	human	known	74_37	silent	37.04	17	10	SNP	0.000	G
HYOU1	10525	genome.wustl.edu	37	11	118918724	118918724	+	Silent	SNP	G	G	C			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr11:118918724G>C	ENST00000404233.3	-	21	2569	c.2445C>G	c.(2443-2445)cgC>cgG	p.R815R	RP11-110I1.6_ENST00000531886.1_RNA|HYOU1_ENST00000525859.1_Silent_p.R753R|HYOU1_ENST00000529972.1_Silent_p.R753R	NM_001130991.1|NM_006389.3	NP_001124463.1|NP_006380.1	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1	815					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)		GCCACTTCTTGCGCTCCTCTA	0.557																																																	0													86.0	81.0	82.0					11																	118918724		2200	4295	6495	SO:0001819	synonymous_variant	0			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.2445C>G	11.37:g.118918724G>C			A8C1Z0|B7Z909|Q2I204|Q53H25	Silent	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.R815	ENST00000404233.3	37	c.2445	CCDS8408.1	11																																																																																			HYOU1	-	NULL	ENSG00000149428		0.557	HYOU1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	HYOU1	HGNC	protein_coding	OTTHUMT00000389353.1	-	0.00	78	0	G	NM_006389		118918724	-1	tier1	-	no_errors	ENST00000404233	ensembl	human	known	74_37	silent	13.64	57	9	SNP	1.000	C
IFT140	9742	genome.wustl.edu	37	16	1634250	1634250	+	Missense_Mutation	SNP	C	C	T	rs538562131		TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr16:1634250C>T	ENST00000426508.2	-	11	1690	c.1327G>A	c.(1327-1329)Gac>Aac	p.D443N	LA16c-395F10.2_ENST00000563162.1_RNA|IFT140_ENST00000439987.2_5'UTR	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	443					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)				ATGTGCATGTCGGTGCGCAGG	0.617																																																	0													46.0	38.0	41.0					16																	1634250		2199	4300	6499	SO:0001583	missense	0			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.1327G>A	16.37:g.1634250C>T	ENSP00000406012:p.Asp443Asn		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.D443N	ENST00000426508.2	37	c.1327	CCDS10439.1	16	.	.	.	.	.	.	.	.	.	.	C	12.12	1.843969	0.32606	.	.	ENSG00000187535	ENST00000397417;ENST00000426508;ENST00000439987	T	0.61158	0.13	5.51	4.56	0.56223	.	0.099620	0.64402	N	0.000002	T	0.72787	0.3504	M	0.79475	2.455	0.80722	D	1	D;D	0.76494	0.998;0.999	P;P	0.61800	0.747;0.894	T	0.76780	-0.2833	10	0.62326	D	0.03	.	13.5045	0.61477	0.0:0.9248:0.0:0.0752	.	443;168	Q96RY7;B4DR58	IF140_HUMAN;.	N	443	ENSP00000406012:D443N	ENSP00000380562:D443N	D	-	1	0	IFT140	1574251	1.000000	0.71417	0.856000	0.33681	0.013000	0.08279	4.559000	0.60796	1.462000	0.47948	0.655000	0.94253	GAC	IFT140	-	NULL	ENSG00000187535		0.617	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFT140	HGNC	protein_coding	OTTHUMT00000250438.2	-	0.00	29	0	C	NM_014714		1634250	-1	tier1	-	no_errors	ENST00000426508	ensembl	human	known	74_37	missense	23.53	13	4	SNP	0.999	T
IGFN1	91156	genome.wustl.edu	37	1	201174426	201174426	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr1:201174426G>T	ENST00000335211.4	+	11	1263	c.1133G>T	c.(1132-1134)gGc>gTc	p.G378V	IGFN1_ENST00000295591.8_5'UTR|IGFN1_ENST00000451870.2_Missense_Mutation_p.G378V	NM_001164586.1	NP_001158058.1	Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1	378	Ig-like 2.					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						TCAGACATGGGCCCCTATTCG	0.592																																																	0													27.0	26.0	26.0					1																	201174426		692	1591	2283	SO:0001583	missense	0			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.1133G>T	1.37:g.201174426G>T	ENSP00000334714:p.Gly378Val		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_dom	p.G378V	ENST00000335211.4	37	c.1133	CCDS53455.1	1	.	.	.	.	.	.	.	.	.	.	G	19.19	3.778737	0.70107	.	.	ENSG00000163395	ENST00000335211;ENST00000451870	D;D	0.84370	-1.84;-1.84	4.77	4.77	0.60923	.	.	.	.	.	D	0.93145	0.7817	M	0.90977	3.165	0.80722	D	1	.	.	.	.	.	.	D	0.94611	0.7804	7	0.87932	D	0	.	15.0637	0.71977	0.0:0.0:1.0:0.0	.	.	.	.	V	378	ENSP00000334714:G378V;ENSP00000398386:G378V	ENSP00000334714:G378V	G	+	2	0	IGFN1	199441049	1.000000	0.71417	1.000000	0.80357	0.692000	0.40212	7.727000	0.84838	2.343000	0.79666	0.655000	0.94253	GGC	IGFN1	-	smart_Ig_sub	ENSG00000163395		0.592	IGFN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	IGFN1	HGNC	protein_coding			0.00	59	0	G	NM_178275		201174426	+1			no_errors	ENST00000335211	ensembl	human	known	74_37	missense	5.13	74	4	SNP	1.000	T
IL1RAPL1	11141	genome.wustl.edu	37	X	29973625	29973625	+	Silent	SNP	C	C	T	rs368495685		TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chrX:29973625C>T	ENST00000378993.1	+	11	2452	c.1779C>T	c.(1777-1779)gcC>gcT	p.A593A	IL1RAPL1_ENST00000302196.4_Silent_p.A593A	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	593	Interaction with NCS1.				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						TTTCCATGGCCGCGGCCACCT	0.512																																																	0								T		1,3832		0,1,1630,571	54.0	36.0	42.0		1779	-5.5	0.6	X		42	0,6728		0,0,2428,1872	no	coding-synonymous	IL1RAPL1	NM_014271.3		0,1,4058,2443	TT,TC,CC,C		0.0,0.0261,0.0095		593/697	29973625	1,10560	2202	4300	6502	SO:0001819	synonymous_variant	0			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.1779C>T	X.37:g.29973625C>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_dom	p.A593	ENST00000378993.1	37	c.1779	CCDS14218.1	X																																																																																			IL1RAPL1	-	NULL	ENSG00000169306		0.512	IL1RAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL1RAPL1	HGNC	protein_coding	OTTHUMT00000056155.1	-	0.00	40	0	C	NM_014271		29973625	+1	tier1	-	no_errors	ENST00000302196	ensembl	human	known	74_37	silent	71.21	19	47	SNP	0.183	T
IL36B	27177	genome.wustl.edu	37	2	113785502	113785502	+	Intron	SNP	A	A	G			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr2:113785502A>G	ENST00000259213.4	-	4	369				IL36B_ENST00000327407.2_Missense_Mutation_p.F151S	NM_014438.3	NP_055253.2	Q9NZH7	IL36B_HUMAN	interleukin 36, beta						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						ATCTAAGTAGAAGTTAGTGTT	0.468																																																	0													68.0	64.0	66.0					2																	113785502		2203	4300	6503	SO:0001627	intron_variant	0			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.261+1013T>C	2.37:g.113785502A>G			Q3MIH0|Q53SR6|Q7RTZ7|Q9UHA5	Missense_Mutation	SNP	pfam_IL-1,superfamily_Cytokine_IL1-like,smart_IL-1,prints_IL-1,prints_IL-1_alpha/beta,prints_IL-1_beta	p.F151S	ENST00000259213.4	37	c.452	CCDS2109.1	2	.	.	.	.	.	.	.	.	.	.	a	16.17	3.047079	0.55110	.	.	ENSG00000136696	ENST00000327407	T	0.37058	1.22	4.85	3.67	0.42095	.	.	.	.	.	T	0.55353	0.1915	.	.	.	0.09310	N	1	D	0.89917	1.0	D	0.81914	0.995	T	0.43343	-0.9397	8	0.87932	D	0	.	7.7808	0.29064	0.8141:0.0:0.0:0.1859	.	151	Q9NZH7-2	.	S	151	ENSP00000328420:F151S	ENSP00000328420:F151S	F	-	2	0	IL36B	113501973	0.233000	0.23772	0.009000	0.14445	0.181000	0.23173	2.445000	0.44899	0.683000	0.31428	0.454000	0.30748	TTC	IL36B	-	pfam_IL-1,superfamily_Cytokine_IL1-like,smart_IL-1	ENSG00000136696		0.468	IL36B-001	KNOWN	basic|CCDS	protein_coding	IL36B	HGNC	protein_coding	OTTHUMT00000254110.1	-	0.00	69	0	A	NM_014438		113785502	-1	tier1	-	no_errors	ENST00000327407	ensembl	human	known	74_37	missense	5.56	68	4	SNP	0.012	G
ILF3	3609	genome.wustl.edu	37	19	10790493	10790493	+	Splice_Site	SNP	C	C	T			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr19:10790493C>T	ENST00000590261.1	+	7	749	c.749C>T	c.(748-750)cCt>cTt	p.P250L	ILF3_ENST00000592763.1_Splice_Site_p.P250L|ILF3_ENST00000589998.1_Splice_Site_p.P250L|ILF3_ENST00000407004.3_Splice_Site_p.P250L|ILF3_ENST00000588657.1_Splice_Site_p.P250L|ILF3_ENST00000318511.3_Splice_Site_p.P250L|ILF3_ENST00000420083.1_Splice_Site_p.P250L|ILF3_ENST00000449870.1_Splice_Site_p.P250L|ILF3_ENST00000250241.8_Splice_Site_p.P250L			Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	250	DZF. {ECO:0000255|PROSITE- ProRule:PRU01040}.				defense response to virus (GO:0051607)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			CCCTTTCAGCCTCTCGAGCTC	0.647																																																	0													74.0	74.0	74.0					19																	10790493		2203	4300	6503	SO:0001630	splice_region_variant	0			U10324	CCDS12246.1, CCDS12247.1, CCDS45965.1, CCDS45966.1, CCDS45967.1	19p13.2	2012-08-10	2002-08-29		ENSG00000129351	ENSG00000129351			6038	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 4"""	603182	"""interleukin enhancer binding factor 3, 90kD"""			7519613, 8885239	Standard	NM_012218		Approved	NF90, MPHOSPH4, MPP4, DRBP76, NFAR-1	uc002mpo.3	Q12906		ENST00000590261.1:c.748-1C>T	19.37:g.10790493C>T			A8K6F2|G5E9M5|O43409|Q6P1X1|Q86XY7|Q99544|Q99545|Q9BZH4|Q9BZH5|Q9NQ95|Q9NQ96|Q9NQ97|Q9NQ98|Q9NQ99|Q9NQA0|Q9NQA1|Q9NQA2|Q9NRN2|Q9NRN3|Q9NRN4|Q9UMZ9|Q9UN00|Q9UN84|Q9UNA2	Missense_Mutation	SNP	pfam_DZF,pfam_dsRNA-bd_dom,smart_DZF,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom	p.P250L	ENST00000590261.1	37	c.749	CCDS12246.1	19	.	.	.	.	.	.	.	.	.	.	C	20.3	3.971322	0.74246	.	.	ENSG00000129351	ENST00000336059;ENST00000449870;ENST00000318511;ENST00000420083;ENST00000407004;ENST00000250241	T;T;T;T;T	0.40476	1.03;1.03;1.03;1.03;1.03	4.73	4.73	0.59995	DZF (2);	0.000000	0.85682	D	0.000000	T	0.61800	0.2376	L	0.56769	1.78	0.80722	D	1	D;D;D;D;D;D	0.89917	0.995;0.998;1.0;0.984;0.975;1.0	P;D;D;D;P;D	0.91635	0.891;0.961;0.999;0.933;0.736;0.999	T	0.64859	-0.6308	10	0.87932	D	0	.	17.0149	0.86415	0.0:1.0:0.0:0.0	.	250;250;250;250;250;250	Q12906-4;G5E9M5;Q12906;Q12906-6;Q12906-2;Q12906-5	.;.;ILF3_HUMAN;.;.;.	L	250	ENSP00000404121:P250L;ENSP00000315205:P250L;ENSP00000405436:P250L;ENSP00000384660:P250L;ENSP00000250241:P250L	ENSP00000250241:P250L	P	+	2	0	ILF3	10651493	1.000000	0.71417	0.977000	0.42913	0.740000	0.42216	7.578000	0.82498	2.613000	0.88420	0.650000	0.86243	CCT	ILF3	-	pfam_DZF,smart_DZF	ENSG00000129351		0.647	ILF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	ILF3	HGNC	protein_coding	OTTHUMT00000452074.1	-	0.00	47	0	C		Missense_Mutation	10790493	+1	tier1	-	no_errors	ENST00000449870	ensembl	human	known	74_37	missense	10.26	35	4	SNP	1.000	T
INTS4	92105	genome.wustl.edu	37	11	77702183	77702183	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr11:77702183C>T	ENST00000534064.1	-	2	251	c.217G>A	c.(217-219)Gtc>Atc	p.V73I	INTS4_ENST00000529807.1_Missense_Mutation_p.V73I|INTS4_ENST00000527522.1_Missense_Mutation_p.V73I	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	integrator complex subunit 4	73					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)			AGAATCCTGACTACTCCCTCT	0.443																																																	0													123.0	116.0	118.0					11																	77702183		2200	4292	6492	SO:0001583	missense	0			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.217G>A	11.37:g.77702183C>T	ENSP00000434466:p.Val73Ile		Q2YD62|Q6PJG4|Q7Z4E7|Q96G32|Q96GA1|Q9BRC0	Missense_Mutation	SNP	pfam_HEAT,superfamily_ARM-type_fold	p.V73I	ENST00000534064.1	37	c.217	CCDS31644.1	11	.	.	.	.	.	.	.	.	.	.	C	21.9	4.216130	0.79352	.	.	ENSG00000149262	ENST00000534064;ENST00000529807;ENST00000527522	T;T	0.64438	-0.1;1.45	5.41	5.41	0.78517	Armadillo-like helical (1);Armadillo-type fold (1);	0.203205	0.41500	D	0.000877	T	0.54078	0.1836	L	0.28458	0.855	0.80722	D	1	B	0.09022	0.002	B	0.09377	0.004	T	0.46911	-0.9157	10	0.45353	T	0.12	-10.5504	19.3872	0.94563	0.0:1.0:0.0:0.0	.	73	Q96HW7	INT4_HUMAN	I	73	ENSP00000434466:V73I;ENSP00000433644:V73I	ENSP00000407787:V73I	V	-	1	0	INTS4	77379831	0.997000	0.39634	0.999000	0.59377	0.999000	0.98932	3.334000	0.52097	2.815000	0.96918	0.643000	0.83706	GTC	INTS4	-	superfamily_ARM-type_fold	ENSG00000149262		0.443	INTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS4	HGNC	protein_coding	OTTHUMT00000390927.1	-	0.00	76	0	C	NM_033547		77702183	-1	tier1	-	no_errors	ENST00000534064	ensembl	human	known	74_37	missense	39.77	53	35	SNP	0.998	T
IPP	3652	genome.wustl.edu	37	1	46184897	46184898	+	Frame_Shift_Del	DEL	AC	AC	-	rs144663569		TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	AC	AC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr1:46184897_46184898delAC	ENST00000396478.3	-	6	1265_1266	c.1163_1164delGT	c.(1162-1164)tgtfs	p.C388fs		NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	388						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	actin binding (GO:0003779)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					TAGCCCCATAACACACACACAC	0.347																																																	0																																										SO:0001589	frameshift_variant	0			BC032544	CCDS30702.1, CCDS44132.1	1p34-p32	2013-01-30			ENSG00000197429	ENSG00000197429		"""Kelch-like"", ""BTB/POZ domain containing"""	6108	protein-coding gene	gene with protein product	"""kelch-like family member 27"""	147485				1905535, 8432546	Standard	NM_005897		Approved	KLHL27	uc001cou.3	Q9Y573	OTTHUMG00000008004	ENST00000396478.3:c.1163_1164delGT	1.37:g.46184907_46184908delAC	ENSP00000379739:p.Cys388fs		A2A6V4|D3DQ11|Q8N5C3	Frame_Shift_Del	DEL	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.C388fs	ENST00000396478.3	37	c.1164_1163	CCDS30702.1	1																																																																																			IPP	-	pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin	ENSG00000197429		0.347	IPP-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	IPP	HGNC	protein_coding	OTTHUMT00000021974.3		0.00	27	0	AC	NM_005897		46184898	-1	tier1		no_errors	ENST00000396478	ensembl	human	known	74_37	frame_shift_del	12.50	28	4	DEL	1.000:1.000	-
ITGA11	22801	genome.wustl.edu	37	15	68649617	68649617	+	Silent	SNP	G	G	T			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr15:68649617G>T	ENST00000315757.7	-	7	707	c.621C>A	c.(619-621)ggC>ggA	p.G207G	ITGA11_ENST00000423218.2_Silent_p.G207G|ITGA11_ENST00000562826.1_5'UTR	NM_001004439.1	NP_001004439.1	Q9UKX5	ITA11_HUMAN	integrin, alpha 11	207	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						CCACATCTTCGCCATACTGCA	0.507																																																	0													88.0	90.0	89.0					15																	68649617		2070	4205	6275	SO:0001819	synonymous_variant	0			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.621C>A	15.37:g.68649617G>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.G207	ENST00000315757.7	37	c.621	CCDS45291.1	15																																																																																			ITGA11	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000137809		0.507	ITGA11-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	ITGA11	HGNC	protein_coding			0.00	92	0	G	NM_012211		68649617	-1			no_errors	ENST00000315757	ensembl	human	known	74_37	silent	5.66	50	3	SNP	0.916	T
IREB2	3658	genome.wustl.edu	37	15	78732161	78732161	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr15:78732161A>G	ENST00000258886.8	+	2	193	c.44A>G	c.(43-45)gAa>gGa	p.E15G	IREB2_ENST00000560440.1_Missense_Mutation_p.E15G	NM_004136.2	NP_004127	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	15					aging (GO:0007568)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|erythrocyte homeostasis (GO:0034101)|intestinal absorption (GO:0050892)|iron ion transport (GO:0006826)|osteoclast differentiation (GO:0030316)|post-embryonic development (GO:0009791)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to iron(II) ion (GO:0010040)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|translation repressor activity (GO:0030371)			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		TACCTTATTGAAACATTAAAT	0.313																																					NSCLC(200;764 2208 35157 49871 50830)												0													116.0	100.0	106.0					15																	78732161		2195	4293	6488	SO:0001583	missense	0			M58511	CCDS10302.1	15q25.1	2013-09-20			ENSG00000136381	ENSG00000136381			6115	protein-coding gene	gene with protein product		147582				2172968	Standard	NM_004136		Approved	IRP2	uc002bdr.2	P48200	OTTHUMG00000143861	ENST00000258886.8:c.44A>G	15.37:g.78732161A>G	ENSP00000258886:p.Glu15Gly		A8KAC7|E1CJT9|H0YKU0|Q13095|Q1HE21|Q59FQ7|Q8WVK6|Q9UF17	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.E15G	ENST00000258886.8	37	c.44	CCDS10302.1	15	.	.	.	.	.	.	.	.	.	.	A	16.99	3.274127	0.59649	.	.	ENSG00000136381	ENST00000258886	T	0.19105	2.17	4.92	4.92	0.64577	Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha (1);	0.104145	0.64402	D	0.000004	T	0.29945	0.0749	L	0.54323	1.7	0.50171	D	0.999855	D;P	0.69078	0.997;0.721	P;B	0.52109	0.69;0.325	T	0.02868	-1.1100	10	0.52906	T	0.07	.	10.9826	0.47504	1.0:0.0:0.0:0.0	.	15;15	P48200;Q8WVK6	IREB2_HUMAN;.	G	15	ENSP00000258886:E15G	ENSP00000258886:E15G	E	+	2	0	IREB2	76519216	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.474000	0.60203	1.845000	0.53610	0.383000	0.25322	GAA	IREB2	-	superfamily_Acoase/IPM_deHydtase_lsu_aba	ENSG00000136381		0.313	IREB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IREB2	HGNC	protein_coding	OTTHUMT00000290109.3	-	0.00	59	0	A	NM_004136		78732161	+1	tier1	-	no_errors	ENST00000258886	ensembl	human	known	74_37	missense	42.55	27	20	SNP	1.000	G
JAG2	3714	genome.wustl.edu	37	14	105617246	105617246	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr14:105617246C>T	ENST00000331782.3	-	11	1787	c.1384G>A	c.(1384-1386)Gtc>Atc	p.V462I	RP11-44N21.4_ENST00000548203.1_RNA|JAG2_ENST00000347004.2_Missense_Mutation_p.V424I	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	462	EGF-like 7; calcium-binding. {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)		CAGTCGTTGACGTCTGGGGGC	0.701																																																	0													14.0	16.0	16.0					14																	105617246		2193	4285	6478	SO:0001583	missense	0			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.1384G>A	14.37:g.105617246C>T	ENSP00000328169:p.Val462Ile		Q9UE17|Q9UE99|Q9UNK8|Q9Y6P9|Q9Y6Q0	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,smart_DSL,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_VWC_out,smart_VWF_C,pfscan_DSL,pfscan_EG-like_dom,pfscan_VWF_C	p.V462I	ENST00000331782.3	37	c.1384	CCDS9998.1	14	.	.	.	.	.	.	.	.	.	.	C	0.265	-0.996849	0.02145	.	.	ENSG00000184916	ENST00000331782;ENST00000347004	D;D	0.87103	-2.21;-2.21	3.33	-3.78	0.04333	EGF-like calcium-binding, conserved site (1);EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.392785	0.25238	N	0.032101	T	0.54679	0.1873	N	0.00811	-1.165	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.08055	0.002;0.003	T	0.59643	-0.7416	10	0.02654	T	1	.	9.4422	0.38675	0.0:0.2236:0.0:0.7764	.	424;462	Q9Y219-2;Q9Y219	.;JAG2_HUMAN	I	462;424	ENSP00000328169:V462I;ENSP00000328566:V424I	ENSP00000328169:V462I	V	-	1	0	JAG2	104688291	0.000000	0.05858	0.067000	0.19924	0.763000	0.43281	-1.052000	0.03503	-0.807000	0.04393	0.297000	0.19635	GTC	JAG2	-	pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	ENSG00000184916		0.701	JAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JAG2	HGNC	protein_coding	OTTHUMT00000276506.2	-	0.00	40	0	C			105617246	-1	tier1	-	no_errors	ENST00000331782	ensembl	human	known	74_37	missense	58.14	18	25	SNP	0.132	T
JMJD1C	221037	genome.wustl.edu	37	10	64968032	64968032	+	Missense_Mutation	SNP	G	G	C			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr10:64968032G>C	ENST00000399262.2	-	10	3615	c.3397C>G	c.(3397-3399)Cct>Gct	p.P1133A	JMJD1C_ENST00000542921.1_Missense_Mutation_p.P951A|JMJD1C_ENST00000402544.1_Missense_Mutation_p.P914A|JMJD1C_ENST00000399251.1_Missense_Mutation_p.P914A	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1133					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)					AGAGTTTGAGGATTAGCTGCT	0.403																																																	0													170.0	163.0	165.0					10																	64968032		1937	4130	6067	SO:0001583	missense	0			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.3397C>G	10.37:g.64968032G>C	ENSP00000382204:p.Pro1133Ala		A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Missense_Mutation	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.P1133A	ENST00000399262.2	37	c.3397	CCDS41532.1	10	.	.	.	.	.	.	.	.	.	.	G	11.28	1.593548	0.28357	.	.	ENSG00000171988	ENST00000399262;ENST00000402544;ENST00000399251;ENST00000542921	T;T;T;T	0.54479	0.92;0.57;2.48;0.92	5.59	4.69	0.59074	.	0.224175	0.39687	N	0.001281	T	0.42653	0.1212	L	0.51422	1.61	0.42707	D	0.993633	B;B;B	0.28378	0.129;0.209;0.129	B;B;B	0.25140	0.033;0.058;0.03	T	0.29458	-1.0011	10	0.23302	T	0.38	-8.9907	8.9069	0.35530	0.2227:0.0:0.7773:0.0	.	674;1133;951	A6PW35;Q15652;A0T124	.;JHD2C_HUMAN;.	A	1133;914;914;951	ENSP00000382204:P1133A;ENSP00000384990:P914A;ENSP00000382195:P914A;ENSP00000444682:P951A	ENSP00000382195:P914A	P	-	1	0	JMJD1C	64638038	0.998000	0.40836	0.999000	0.59377	0.953000	0.61014	1.988000	0.40697	1.360000	0.45960	0.563000	0.77884	CCT	JMJD1C	-	NULL	ENSG00000171988		0.403	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	JMJD1C	HGNC	protein_coding	OTTHUMT00000048249.2	-	0.00	26	0	G	NM_004241		64968032	-1	tier1	-	no_errors	ENST00000399262	ensembl	human	known	74_37	missense	64.71	12	22	SNP	1.000	C
KALRN	8997	genome.wustl.edu	37	3	124398488	124398488	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr3:124398488G>A	ENST00000462213.1	+	3	576	c.352G>A	c.(352-354)Ggt>Agt	p.G118S	KALRN_ENST00000360013.3_Intron|KALRN_ENST00000428018.2_Intron|KALRN_ENST00000291478.5_Intron			O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	0	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				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						GGCATCTCTGGGTATCCCATC	0.338																																																	0																																										SO:0001583	missense	0			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	ENST00000462213.1:c.352G>A	3.37:g.124398488G>A	ENSP00000418790:p.Gly118Ser		A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	NULL	p.G118S	ENST00000462213.1	37	c.352		3	.	.	.	.	.	.	.	.	.	.	G	11.91	1.778404	0.31502	.	.	ENSG00000160145	ENST00000462213	T	0.56103	0.48	5.27	4.4	0.53042	.	.	.	.	.	T	0.56688	0.2002	.	.	.	0.51767	D	0.999937	.	.	.	.	.	.	T	0.54879	-0.8227	5	.	.	.	.	10.8685	0.46869	0.087:0.0:0.913:0.0	.	.	.	.	S	118	ENSP00000418790:G118S	.	G	+	1	0	KALRN	125881178	0.807000	0.29009	0.021000	0.16686	0.041000	0.13682	2.575000	0.46025	1.467000	0.48044	0.655000	0.94253	GGT	KALRN	-	NULL	ENSG00000160145		0.338	KALRN-016	PUTATIVE	basic|exp_conf	protein_coding	KALRN	HGNC	protein_coding	OTTHUMT00000356377.1	-	0.00	58	0	G	NM_003947		124398488	+1	tier1	-	no_errors	ENST00000462213	ensembl	human	putative	74_37	missense	21.15	41	11	SNP	0.290	A
KAT6B	23522	genome.wustl.edu	37	10	76602862	76602862	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr10:76602862G>T	ENST00000287239.4	+	3	736	c.247G>T	c.(247-249)Gtt>Ttt	p.V83F	KAT6B_ENST00000372725.1_Missense_Mutation_p.V83F|KAT6B_ENST00000372714.1_Missense_Mutation_p.V83F|KAT6B_ENST00000372724.1_Missense_Mutation_p.V83F|KAT6B_ENST00000372711.1_Missense_Mutation_p.V83F	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	83					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)										CTTTTCATCAGTTAAACCAGG	0.463																																																	0													102.0	105.0	104.0					10																	76602862		2203	4300	6503	SO:0001583	missense	0			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.247G>T	10.37:g.76602862G>T	ENSP00000287239:p.Val83Phe		O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Missense_Mutation	SNP	pfam_MOZ_SAS,pfam_Znf_PHD-finger,pfam_Histone_H1/H5_H15,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5_H15,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.V83F	ENST00000287239.4	37	c.247	CCDS7345.1	10	.	.	.	.	.	.	.	.	.	.	G	9.905	1.207920	0.22205	.	.	ENSG00000156650	ENST00000372725;ENST00000372724;ENST00000287239;ENST00000372714;ENST00000372711	T;T;T;T;T	0.77489	-1.08;-1.08;-1.1;-1.08;-1.1	6.17	5.26	0.73747	.	0.179356	0.26627	N	0.023321	T	0.61776	0.2374	N	0.12182	0.205	0.28302	N	0.923052	B;B;B	0.13145	0.007;0.007;0.004	B;B;B	0.14578	0.011;0.011;0.005	T	0.45862	-0.9232	10	0.19590	T	0.45	-9.2014	15.8758	0.79159	0.0652:0.0:0.9348:0.0	.	83;83;83	Q8WYB5-2;Q8WYB5-3;Q8WYB5	.;.;KAT6B_HUMAN	F	83	ENSP00000361810:V83F;ENSP00000361809:V83F;ENSP00000287239:V83F;ENSP00000361799:V83F;ENSP00000361796:V83F	ENSP00000287239:V83F	V	+	1	0	KAT6B	76272868	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.666000	0.46799	2.941000	0.99782	0.655000	0.94253	GTT	KAT6B	-	NULL	ENSG00000156650		0.463	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KAT6B	HGNC	protein_coding	OTTHUMT00000048771.1	-	0.00	64	0	G	NM_012330		76602862	+1	tier1	-	no_errors	ENST00000287239	ensembl	human	known	74_37	missense	10.81	33	4	SNP	0.999	T
KAT7	11143	genome.wustl.edu	37	17	47905057	47905057	+	3'UTR	SNP	G	G	A			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr17:47905057G>A	ENST00000259021.4	+	0	2309				KAT7_ENST00000503935.2_3'UTR|KAT7_ENST00000435742.2_3'UTR|KAT7_ENST00000510819.1_3'UTR|KAT7_ENST00000454930.2_3'UTR|KAT7_ENST00000424009.2_3'UTR|KAT7_ENST00000513980.1_3'UTR	NM_007067.4	NP_008998.1	O95251	KAT7_HUMAN	K(lysine) acetyltransferase 7						chromatin organization (GO:0006325)|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)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										TGTTGTTTCGGCCTCAGTGAG	0.527																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF074606	CCDS11554.1, CCDS56035.1, CCDS56036.1, CCDS56037.1, CCDS56038.1	17q21.32	2013-01-10	2011-07-21	2011-07-21	ENSG00000136504	ENSG00000136504	2.3.1.48	"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"""	17016	protein-coding gene	gene with protein product	"""histone acetyltransferase binding to ORC1"""	609880	"""MYST histone acetyltransferase 2"""	MYST2		10438470, 10930412	Standard	NM_001199155		Approved	HBOA, HBO1, ZC2HC7	uc002ipm.3	O95251	OTTHUMG00000161770	ENST00000259021.4:c.*193G>A	17.37:g.47905057G>A			B3KN74|B4DF85|B4DFB4|B4DFE0|B4DGY4|E7ER15|G5E9K7	RNA	SNP	-	NULL	ENST00000259021.4	37	NULL	CCDS11554.1	17																																																																																			KAT7	-	-	ENSG00000136504		0.527	KAT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KAT7	HGNC	protein_coding	OTTHUMT00000366032.1	-	0.00	53	0	G	NM_007067		47905057	+1	tier1	-	no_errors	ENST00000503101	ensembl	human	known	74_37	rna	5.13	74	4	SNP	1.000	A
KBTBD12	166348	genome.wustl.edu	37	3	127642564	127642564	+	Silent	SNP	C	C	T			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr3:127642564C>T	ENST00000405109.1	+	2	1127	c.660C>T	c.(658-660)gtC>gtT	p.V220V	KBTBD12_ENST00000407609.3_Intron|KBTBD12_ENST00000405256.1_Silent_p.V220V|KBTBD12_ENST00000343941.4_Intron			Q3ZCT8	KBTBC_HUMAN	kelch repeat and BTB (POZ) domain containing 12	220	BACK.									endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						TGAAGCAAGTCAGATTGGAAC	0.373																																																	0													81.0	74.0	76.0					3																	127642564		1898	4109	6007	SO:0001819	synonymous_variant	0				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.660C>T	3.37:g.127642564C>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.V220	ENST00000405109.1	37	c.660	CCDS33848.2	3																																																																																			KBTBD12	-	pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin	ENSG00000187715		0.373	KBTBD12-006	KNOWN	basic|appris_principal|CCDS	protein_coding	KBTBD12	HGNC	protein_coding	OTTHUMT00000318682.1	-	0.00	39	0	C	NM_207335		127642564	+1	tier1	-	no_errors	ENST00000405109	ensembl	human	known	74_37	silent	20.00	20	5	SNP	0.915	T
KCNJ12	3768	genome.wustl.edu	37	17	21318691	21318691	+	Missense_Mutation	SNP	G	G	A	rs556074330	byFrequency	TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr17:21318691G>A	ENST00000583088.1	+	3	932	c.37G>A	c.(37-39)Gtg>Atg	p.V13M	KCNJ12_ENST00000331718.5_Missense_Mutation_p.V13M	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	13					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)	CTACAGCATCGTGTCATCGGA	0.706										Prostate(3;0.18)																																							0													55.0	51.0	52.0					17																	21318691		2202	4299	6501	SO:0001583	missense	0			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.37G>A	17.37:g.21318691G>A	ENSP00000463778:p.Val13Met		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.V13M	ENST00000583088.1	37	c.37	CCDS11219.1	17	.	.	.	.	.	.	.	.	.	.	G	23.9	4.471284	0.84533	.	.	ENSG00000184185	ENST00000331718	T	0.47177	0.85	5.33	5.33	0.75918	Potassium channel, inwardly rectifying, Kir, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.67211	0.2869	M	0.63843	1.955	0.80722	D	1	D	0.76494	0.999	D	0.71184	0.972	T	0.69982	-0.4997	10	0.87932	D	0	.	18.6211	0.91321	0.0:0.0:1.0:0.0	.	13	Q14500	IRK12_HUMAN	M	13	ENSP00000328150:V13M	ENSP00000328150:V13M	V	+	1	0	KCNJ12	21259284	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.690000	0.98676	2.506000	0.84524	0.591000	0.81541	GTG	KCNJ12	-	pfam_K_chnl_inward-rec_Kir_N	ENSG00000184185		0.706	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ12	HGNC	protein_coding	OTTHUMT00000255060.2	-	0.00	94	0	G	NM_021012		21318691	+1	tier1	-	no_errors	ENST00000331718	ensembl	human	known	74_37	missense	6.32	89	6	SNP	1.000	A
KCNN3	3782	genome.wustl.edu	37	1	154680162	154680162	+	3'UTR	SNP	G	G	C			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr1:154680162G>C	ENST00000271915.4	-	0	2801				KCNN3_ENST00000361147.4_3'UTR|KCNN3_ENST00000515643.1_5'UTR	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						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)	CTGAGATTGAGCGTGGATTTC	0.597																																																	0																																										SO:0001624	3_prime_UTR_variant	0			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.*290C>G	1.37:g.154680162G>C			B1ANX0|O43517|Q86VF9|Q8WXG7	RNA	SNP	-	NULL	ENST00000271915.4	37	NULL	CCDS30880.1	1																																																																																			KCNN3	-	-	ENSG00000143603		0.597	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	KCNN3	HGNC	protein_coding	OTTHUMT00000090688.3	-	0.00	76	0	G	NM_002249		154680162	-1	tier1	-	no_errors	ENST00000515643	ensembl	human	known	74_37	rna	38.00	62	38	SNP	1.000	C
KDM5A	5927	genome.wustl.edu	37	12	404831	404831	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr12:404831G>T	ENST00000399788.2	-	26	4725	c.4363C>A	c.(4363-4365)Ctg>Atg	p.L1455M	KDM5A_ENST00000540838.1_5'Flank|KDM5A_ENST00000382815.4_Missense_Mutation_p.L1455M	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	1455					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						GATACTTCCAGGAGATCTCCA	0.507			T	NUP98	AML																																			Dom	yes		12	12p11	5927	"""lysine (K)-specific demethylase 5A, JARID1A"""		L	0													190.0	181.0	184.0					12																	404831		1901	4132	6033	SO:0001583	missense	0				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.4363C>A	12.37:g.404831G>T	ENSP00000382688:p.Leu1455Met		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.L1455M	ENST00000399788.2	37	c.4363	CCDS41736.1	12	.	.	.	.	.	.	.	.	.	.	G	17.45	3.392637	0.62066	.	.	ENSG00000073614	ENST00000399788;ENST00000382815	D;D	0.94576	-3.42;-3.46	5.42	1.59	0.23543	.	0.143329	0.48286	D	0.000187	D	0.96207	0.8763	M	0.75085	2.285	0.37001	D	0.895285	D;D	0.76494	0.998;0.999	D;D	0.85130	0.994;0.997	D	0.95688	0.8738	10	0.72032	D	0.01	-10.1317	10.1337	0.42693	0.27:0.0:0.73:0.0	.	1455;1455	P29375;P29375-2	KDM5A_HUMAN;.	M	1455	ENSP00000382688:L1455M;ENSP00000372265:L1455M	ENSP00000372265:L1455M	L	-	1	2	KDM5A	275092	1.000000	0.71417	0.851000	0.33527	0.825000	0.46686	3.200000	0.51051	0.090000	0.17273	-0.258000	0.10820	CTG	KDM5A	-	NULL	ENSG00000073614		0.507	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM5A	HGNC	protein_coding	OTTHUMT00000397812.1	-	0.00	71	0	G	NM_005056		404831	-1	tier1	-	no_errors	ENST00000399788	ensembl	human	known	74_37	missense	6.06	62	4	SNP	1.000	T
KIF3B	9371	genome.wustl.edu	37	20	30898258	30898258	+	Silent	SNP	C	C	T			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr20:30898258C>T	ENST00000375712.3	+	2	845	c.678C>T	c.(676-678)agC>agT	p.S226S	KIF3B_ENST00000418717.2_5'Flank	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	226	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)			TTGAGTGCAGCGAGGTGGGCC	0.522																																																	0													56.0	50.0	52.0					20																	30898258		2203	4300	6503	SO:0001819	synonymous_variant	0			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.678C>T	20.37:g.30898258C>T			B2RMP4|B4DSR5|E1P5M5	Silent	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.S226	ENST00000375712.3	37	c.678	CCDS13200.1	20																																																																																			KIF3B	-	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	ENSG00000101350		0.522	KIF3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF3B	HGNC	protein_coding	OTTHUMT00000078619.1	-	0.00	24	0	C	NM_004798		30898258	+1	tier1	-	no_errors	ENST00000375712	ensembl	human	known	74_37	silent	32.08	36	17	SNP	0.988	T
KIR3DX1	90011	genome.wustl.edu	37	19	55048317	55048317	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr19:55048317G>T	ENST00000335056.3	+	5	922	c.884G>T	c.(883-885)tGc>tTc	p.C295F	KIR3DX1_ENST00000482404.1_3'UTR			Q9H7L2	KI3X1_HUMAN	killer cell immunoglobulin-like receptor, three domains, X1	295	Ig-like C2-type 2.					extracellular region (GO:0005576)				endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1)	24				GBM - Glioblastoma multiforme(193;0.099)		ACCTATAGATGCTATGGTTCC	0.582																																					Colon(183;529 2002 28270 32358 35845)|Esophageal Squamous(50;443 1006 2278 10294 37938)												0													88.0	85.0	86.0					19																	55048317		1925	4148	6073	SO:0001583	missense	0			BC033195		19q13.42	2013-03-26	2006-09-12	2006-09-12	ENSG00000104970	ENSG00000104970		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	25043	other	unknown			"""leukocyte receptor cluster (LRC) member 12"""	LENG12		11441184	Standard	NR_026716		Approved	FLJ00060	uc010erm.2	Q9H7L2	OTTHUMG00000065696	ENST00000335056.3:c.884G>T	19.37:g.55048317G>T	ENSP00000335388:p.Cys295Phe		B7WNL0|Q8N0S4	Missense_Mutation	SNP	pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like_dom	p.C295F	ENST00000335056.3	37	c.884		19	.	.	.	.	.	.	.	.	.	.	G	12.55	1.972661	0.34848	.	.	ENSG00000104970	ENST00000335056	T	0.35605	1.3	1.79	1.79	0.24919	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.52980	0.1768	.	.	.	0.25800	N	0.984523	D	0.89917	1.0	D	0.97110	1.0	T	0.30031	-0.9992	8	0.87932	D	0	.	7.049	0.25063	0.0:0.0:1.0:0.0	.	295	Q9H7L2	KI3X1_HUMAN	F	295	ENSP00000335388:C295F	ENSP00000221567:C295F	C	+	2	0	KIR3DX1	59740129	0.014000	0.17966	0.768000	0.31515	0.031000	0.12232	0.520000	0.22878	1.335000	0.45486	0.650000	0.86243	TGC	KIR3DX1	-	smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000104970		0.582	KIR3DX1-002	KNOWN	basic|appris_principal	protein_coding	KIR3DX1	HGNC	protein_coding	OTTHUMT00000140800.2	-	0.00	59	0	G	NR_026716		55048317	+1	tier1	-	no_errors	ENST00000335056	ensembl	human	known	74_37	missense	7.14	65	5	SNP	0.804	T
KIR2DL3	3804	genome.wustl.edu	37	19	55258792	55258792	+	Missense_Mutation	SNP	C	C	T	rs72487164		TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr19:55258792C>T	ENST00000342376.3	+	5	701	c.670C>T	c.(670-672)Cct>Tct	p.P224S	CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL3_ENST00000434419.2_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000402254.2_Intron	NM_015868.2	NP_056952.2	P43628	KI2L3_HUMAN	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3	224					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)		TCTAGGAAACCCTTCAAATAG	0.483																																																	0													111.0	93.0	100.0					19																	55258792		1481	2640	4121	SO:0001583	missense	0			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.670C>T	19.37:g.55258792C>T	ENSP00000342215:p.Pro224Ser		O43472|P78402|Q14944|Q14945|Q9UM51|Q9UQ70	Missense_Mutation	SNP	pfam_Immunoglobulin,smart_Ig_sub	p.P224S	ENST00000342376.3	37	c.670	CCDS33107.1	19	.	.	.	.	.	.	.	.	.	.	c	0.288	-0.982046	0.02197	.	.	ENSG00000243772	ENST00000342376	T	0.00493	7.0	0.736	-0.419	0.12340	.	.	.	.	.	T	0.00328	0.0010	N	0.21373	0.66	0.09310	N	0.999999	B;B;B;B;B	0.13594	0.004;0.008;0.005;0.001;0.001	B;B;B;B;B	0.08055	0.001;0.002;0.003;0.001;0.001	T	0.46665	-0.9175	9	0.51188	T	0.08	.	4.9768	0.14144	0.0:0.393:0.0:0.607	.	224;224;126;224;224	E3NZD7;P43627;P43628-2;P43628;E3NZD8	.;KI2L2_HUMAN;.;KI2L3_HUMAN;.	S	224	ENSP00000342215:P224S	ENSP00000342215:P224S	P	+	1	0	KIR2DL3	59950604	0.009000	0.17119	0.039000	0.18376	0.003000	0.03518	-0.235000	0.09016	-2.059000	0.00894	-2.819000	0.00109	CCT	KIR2DL3	-	NULL	ENSG00000243772		0.483	KIR2DL3-001	KNOWN	basic|CCDS	protein_coding	KIR2DL3	HGNC	protein_coding	OTTHUMT00000141150.1	-	0.00	197	0	C			55258792	+1	tier1	rs72487164	no_errors	ENST00000342376	ensembl	human	known	74_37	missense	43.20	95	73	SNP	0.070	T
KMT2E	55904	genome.wustl.edu	37	7	104753227	104753228	+	Missense_Mutation	DNP	AC	AC	GA			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	A|C	A|C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr7:104753227_104753228AC>GA	ENST00000311117.3	+	27	5569_5570	c.5024_5025AC>GA	c.(5023-5025)cAC>cGA	p.H1675R	KMT2E_ENST00000257745.4_Missense_Mutation_p.H1675R|SRPK2_ENST00000493638.1_Intron|KMT2E_ENST00000334877.4_Missense_Mutation_p.H1633R	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	1675	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)										ACTGCTGGACACCACTTACCCC	0.569																																																	0																																										SO:0001583	missense	0			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	Exception_encountered	7.37:g.104753227_104753228delinsGA	ENSP00000312379:p.His1675Arg		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.H1675R|p.H1675Q	ENST00000311117.3	37	c.5024|c.5025	CCDS34723.1	7																																																																																			KMT2E	-	NULL	ENSG00000005483		0.569	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KMT2E	HGNC	protein_coding	OTTHUMT00000348697.1	-	0.00	76|77	0	A|C			104753227|104753228	+1	tier1	-	no_errors	ENST00000257745	ensembl	human	known	74_37	missense	25.61	61	21	SNP	0.994|0.989	G|A
KRT34	3885	genome.wustl.edu	37	17	39535268	39535268	+	Missense_Mutation	SNP	C	C	T	rs374681338		TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr17:39535268C>T	ENST00000394001.1	-	6	1193	c.1163G>A	c.(1162-1164)cGt>cAt	p.R388H		NM_021013.3	NP_066293.2	O76011	KRT34_HUMAN	keratin 34	388	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)				CAGCCGGGCACGCACGTCCAG	0.577																																																	0								C	HIS/ARG	1,4405		0,1,2202	176.0	148.0	157.0		1163	3.0	0.2	17		157	0,8600		0,0,4300	no	missense	KRT34	NM_021013.3	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	388/437	39535268	1,13005	2203	4300	6503	SO:0001583	missense	0			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.1163G>A	17.37:g.39535268C>T	ENSP00000377570:p.Arg388His		Q8IUT8|Q8N4W2	Missense_Mutation	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_I	p.R388H	ENST00000394001.1	37	c.1163	CCDS11390.1	17	.	.	.	.	.	.	.	.	.	.	N	15.69	2.907387	0.52333	2.27E-4	0.0	ENSG00000131737	ENST00000394001;ENST00000251648	.	.	.	5.05	2.97	0.34412	Filament (1);	0.253257	0.28577	N	0.014846	T	0.59280	0.2182	M	0.72118	2.19	0.31107	N	0.710364	D	0.69078	0.997	D	0.65323	0.934	T	0.62426	-0.6857	9	0.87932	D	0	.	5.5094	0.16872	0.0:0.6037:0.0:0.3963	.	388	O76011	KRT34_HUMAN	H	346;388	.	ENSP00000251648:R388H	R	-	2	0	KRT34	36788794	0.634000	0.27190	0.229000	0.23960	0.155000	0.21991	1.711000	0.37930	1.195000	0.43115	0.650000	0.86243	CGT	KRT34	-	pfam_IF	ENSG00000131737		0.577	KRT34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT34	HGNC	protein_coding	OTTHUMT00000257304.3	-	0.00	104	0	C	NM_021013		39535268	-1	tier1	-	no_errors	ENST00000394001	ensembl	human	known	74_37	missense	47.22	57	51	SNP	0.979	T
LENG8	114823	genome.wustl.edu	37	19	54969281	54969281	+	Splice_Site	SNP	G	G	T			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr19:54969281G>T	ENST00000326764.5	+	14	2381		c.e14-1		LENG8_ENST00000376514.2_Intron	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN	leukocyte receptor cluster (LRC) member 8											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)		CTGCCTTCCAGGGTGACCATG	0.617																																																	0													98.0	95.0	96.0					19																	54969281		2203	4300	6503	SO:0001630	splice_region_variant	0			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.1903-1G>T	19.37:g.54969281G>T			B0VJY9|Q8IZ27|Q8NCX6	Splice_Site	SNP	-	e13-1	ENST00000326764.5	37	c.1903-1	CCDS12894.1	19	.	.	.	.	.	.	.	.	.	.	G	17.90	3.501265	0.64298	.	.	ENSG00000167615	ENST00000326764;ENST00000301196;ENST00000376526;ENST00000431846	.	.	.	5.16	5.16	0.70880	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5215	0.84318	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LENG8	59661093	1.000000	0.71417	0.998000	0.56505	0.704000	0.40688	8.634000	0.91002	2.582000	0.87167	0.561000	0.74099	.	LENG8	-	-	ENSG00000167615		0.617	LENG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LENG8	HGNC	protein_coding	OTTHUMT00000140523.2		0.00	22	0	G	NM_052925	Intron	54969281	+1			no_errors	ENST00000326764	ensembl	human	known	74_37	splice_site	8.00	23	2	SNP	1.000	T
LINC00052	145978	genome.wustl.edu	37	15	88121427	88121428	+	lincRNA	DEL	CT	CT	-	rs143699270|rs371020147	byFrequency	TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	CT	CT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr15:88121427_88121428delCT	ENST00000560153.1	+	0	296_297				RP11-648K4.2_ENST00000560439.1_lincRNA	NR_026869.1		Q96N35	TMM83_HUMAN	long intergenic non-protein coding RNA 52							integral component of membrane (GO:0016021)											gtctccctccctctctctctct	0.386														225	0.0449281	0.1536	0.0101	5008	,	,		22351	0.006		0.004	False		,,,				2504	0.0051																0																																												0			AK056023		15q25.3	2012-10-12	2011-08-10	2011-08-10		ENSG00000259527		"""Long non-coding RNAs"""	26455	non-coding RNA	RNA, long non-coding			"""transmembrane protein 83"", ""non-protein coding RNA 52"""	TMEM83, NCRNA00052			Standard	NR_026869		Approved	FLJ31461	uc002bmc.1	Q96N35			15.37:g.88121437_88121438delCT				RNA	DEL	-	NULL	ENST00000560153.1	37	NULL		15																																																																																			LINC00052	-	-	ENSG00000259527		0.386	LINC00052-002	KNOWN	basic	lincRNA	LINC00052	HGNC	lincRNA	OTTHUMT00000416151.1		0.00	42	0	CT	XR_017978		88121428	+1	tier1		no_errors	ENST00000560153	ensembl	human	known	74_37	rna	10.34	26	3	DEL	0.000:0.000	-
LIPF	8513	genome.wustl.edu	37	10	90438384	90438384	+	Silent	SNP	C	C	G			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr10:90438384C>G	ENST00000238983.4	+	10	1189	c.1143C>G	c.(1141-1143)gcC>gcG	p.A381A	LIPF_ENST00000355843.2_Silent_p.A358A|LIPF_ENST00000608620.1_Silent_p.A348A|LIPF_ENST00000394375.3_Silent_p.A391A	NM_004190.3	NP_004181.1	P07098	LIPG_HUMAN	lipase, gastric	381					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)			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)	CAATGGATGCCCCTCAAGAAG	0.348																																																	0													73.0	76.0	75.0					10																	90438384		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1143C>G	10.37:g.90438384C>G			B7Z723|F5H1P4|Q2M1P6|Q5VXI7|Q5VXI8|Q658L8	Silent	SNP	pfam_AB_hydrolase_lipase,pfam_AB_hydrolase_1	p.A391	ENST00000238983.4	37	c.1173	CCDS7389.1	10																																																																																			LIPF	-	pfam_AB_hydrolase_1	ENSG00000182333		0.348	LIPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIPF	HGNC	protein_coding	OTTHUMT00000049256.1		0.00	86	0	C			90438384	+1			no_errors	ENST00000394375	ensembl	human	known	74_37	silent	5.88	64	4	SNP	0.537	G
LMOD2	442721	genome.wustl.edu	37	7	123302462	123302462	+	Silent	SNP	C	C	T			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr7:123302462C>T	ENST00000458573.2	+	2	979	c.822C>T	c.(820-822)aaC>aaT	p.N274N	LMOD2_ENST00000456238.2_Intron	NM_207163.1	NP_997046.1	Q6P5Q4	LMOD2_HUMAN	leiomodin 2 (cardiac)	274						cytoskeleton (GO:0005856)											CCAACGTAAACGTCGAGTCCA	0.542																																																	0													87.0	86.0	86.0					7																	123302462		2165	4246	6411	SO:0001819	synonymous_variant	0			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.822C>T	7.37:g.123302462C>T			A4D0W9|A4D0Y2|Q8WVJ8	Silent	SNP	pfam_Tropomodulin,pfscan_WH2_dom	p.N274	ENST00000458573.2	37	c.822	CCDS47693.1	7																																																																																			LMOD2	-	NULL	ENSG00000170807		0.542	LMOD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LMOD2	HGNC	protein_coding	OTTHUMT00000348525.1	-	0.00	58	0	C			123302462	+1	tier1	-	no_errors	ENST00000458573	ensembl	human	known	74_37	silent	35.29	33	18	SNP	0.966	T
LINC01410	103352539	genome.wustl.edu	37	9	66466233	66466233	+	lincRNA	SNP	C	C	A	rs12552537		TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr9:66466233C>A	ENST00000424345.1	+	0	866																											gagagagagccggacagactc	0.458																																																	0																																												0																															9.37:g.66466233C>A				RNA	SNP	-	NULL	ENST00000424345.1	37	NULL		9																																																																																			RP11-262H14.1	-	-	ENSG00000238113		0.458	RP11-262H14.1-001	KNOWN	basic	lincRNA	LOC100996870	Clone_based_vega_gene	lincRNA	OTTHUMT00000128851.1	-	0.00	12	0	C			66466233	+1	tier1	rs12552537	no_errors	ENST00000424345	ensembl	human	known	74_37	rna	30.77	9	4	SNP	0.001	A
LOC729737	729737	genome.wustl.edu	37	19	199283	199283	+	RNA	SNP	G	G	A	rs373464327		TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr19:199283G>A	ENST00000590372.1	+	0	183				AC092299.8_ENST00000607682.1_RNA																							CTCTCTCAGCGTGGGAGGGGC	0.701																																																	0																																												0																															19.37:g.199283G>A				RNA	SNP	-	NULL	ENST00000590372.1	37	NULL		19																																																																																			AC092299.8	-	-	ENSG00000272098		0.701	AC092299.7-002	KNOWN	basic	processed_transcript	LOC101930218	Clone_based_vega_gene	pseudogene	OTTHUMT00000459134.1		0.00	8	0	G			199283	-1			no_errors	ENST00000607682	ensembl	human	known	74_37	rna	50.00	2	2	SNP	0.967	A
LOC285556	285556	genome.wustl.edu	37	4	100571762	100571762	+	Silent	SNP	G	G	A			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr4:100571762G>A	ENST00000511828.1	-	1	4043	c.4044C>T	c.(4042-4044)agC>agT	p.S1348S																								CACTCTCAGCGCTGGGGTTGG	0.597																																																	0																																										SO:0001819	synonymous_variant	0																														ENST00000511828.1:c.4044C>T	4.37:g.100571762G>A				Silent	SNP	NULL	p.S1348	ENST00000511828.1	37	c.4044		4																																																																																			RP11-766F14.2	-	NULL	ENSG00000248713		0.597	RP11-766F14.2-001	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	LOC285556	Clone_based_vega_gene	protein_coding	OTTHUMT00000365456.1	-	0.00	44	0	G			100571762	-1	tier1	-	no_errors	ENST00000511828	ensembl	human	putative	74_37	silent	31.91	32	15	SNP	0.005	A
LINC00298	339788	genome.wustl.edu	37	2	8064273	8064273	+	lincRNA	SNP	T	T	C			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr2:8064273T>C	ENST00000426969.1	-	0	518					NR_015405.1																						gttctgaagattgagaaACTC	0.527																																																	0																																												0																															2.37:g.8064273T>C				RNA	SNP	-	NULL	ENST00000426969.1	37	NULL		2																																																																																			AC007464.1	-	-	ENSG00000235665		0.527	AC007464.1-001	KNOWN	basic	lincRNA	LOC339788	Clone_based_vega_gene	lincRNA	OTTHUMT00000323254.1	-	0.00	35	0	T			8064273	-1	tier1	-	no_errors	ENST00000426969	ensembl	human	known	74_37	rna	75.00	10	30	SNP	0.002	C
LRP1B	53353	genome.wustl.edu	37	2	141819736	141819736	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr2:141819736C>A	ENST00000389484.3	-	8	2091	c.1120G>T	c.(1120-1122)Gca>Tca	p.A374S		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	374					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)		AGTGCCAGTGCAGCTGGCTGC	0.433										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												0													180.0	158.0	166.0					2																	141819736		2203	4300	6503	SO:0001583	missense	0			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.1120G>T	2.37:g.141819736C>A	ENSP00000374135:p.Ala374Ser		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.A374S	ENST00000389484.3	37	c.1120	CCDS2182.1	2	.	.	.	.	.	.	.	.	.	.	C	26.4	4.733264	0.89482	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.90900	-2.75	5.63	5.63	0.86233	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	D	0.90270	0.6957	L	0.41492	1.28	0.58432	D	0.999998	D	0.58268	0.982	P	0.48815	0.591	D	0.90078	0.4168	10	0.49607	T	0.09	.	20.0401	0.97581	0.0:1.0:0.0:0.0	.	374	Q9NZR2	LRP1B_HUMAN	S	374;312	ENSP00000374135:A374S	ENSP00000374135:A374S	A	-	1	0	LRP1B	141536206	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.999000	0.70665	2.805000	0.96524	0.655000	0.94253	GCA	LRP1B	-	superfamily_Growth_fac_rcpt_N_dom,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt	ENSG00000168702		0.433	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	-	0.00	61	0	C	NM_018557		141819736	-1	tier1	-	no_errors	ENST00000389484	ensembl	human	known	74_37	missense	14.04	49	8	SNP	1.000	A
LRRC36	55282	genome.wustl.edu	37	16	67380182	67380182	+	Silent	SNP	C	C	A			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr16:67380182C>A	ENST00000329956.6	+	3	241	c.222C>A	c.(220-222)ctC>ctA	p.L74L	LRRC36_ENST00000563303.1_3'UTR|LRRC36_ENST00000563189.1_5'Flank|LRRC36_ENST00000290940.7_5'Flank|LRRC36_ENST00000541146.1_5'Flank|LRRC36_ENST00000435835.3_5'Flank	NM_018296.5	NP_060766.5	Q1X8D7	LRC36_HUMAN	leucine rich repeat containing 36	74										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)		TATGTTCACTCCAAGACCTGA	0.358																																																	0													129.0	127.0	128.0					16																	67380182		2198	4300	6498	SO:0001819	synonymous_variant	0			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.222C>A	16.37:g.67380182C>A			A4FTV6|A6NDE9|A8K8E6|Q7Z5K5	Missense_Mutation	SNP	NULL	p.P32T	ENST00000329956.6	37	c.94	CCDS32467.1	16																																																																																			LRRC36	-	NULL	ENSG00000159708		0.358	LRRC36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC36	HGNC	protein_coding	OTTHUMT00000421770.1	-	0.00	81	0	C	NM_018296		67380182	+1	tier1	-	no_errors	ENST00000570075	ensembl	human	known	74_37	missense	5.33	71	4	SNP	1.000	A
LRRIQ1	84125	genome.wustl.edu	37	12	85466844	85466844	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr12:85466844G>T	ENST00000393217.2	+	11	2916	c.2855G>T	c.(2854-2856)tGt>tTt	p.C952F		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	952										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)		AATTCAGATTGTAATTTCCTT	0.383																																																	0													99.0	94.0	96.0					12																	85466844		2203	4300	6503	SO:0001583	missense	0			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.2855G>T	12.37:g.85466844G>T	ENSP00000376910:p.Cys952Phe		Q567P4|Q9BS17|Q9HA36	Missense_Mutation	SNP	pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS	p.C952F	ENST00000393217.2	37	c.2855	CCDS41816.1	12	.	.	.	.	.	.	.	.	.	.	G	0.012	-1.688960	0.00738	.	.	ENSG00000133640	ENST00000256007;ENST00000378580;ENST00000393217	T	0.53857	0.6	3.49	-3.46	0.04767	.	1.696490	0.04471	U	0.376074	T	0.41903	0.1179	L	0.52573	1.65	0.09310	N	1	B;B	0.23128	0.047;0.08	B;B	0.12156	0.007;0.007	T	0.29518	-1.0009	10	0.44086	T	0.13	.	4.442	0.11579	0.5957:0.0:0.2316:0.1728	.	952;927	Q96JM4;C9JI57	LRIQ1_HUMAN;.	F	952;927;952	ENSP00000376910:C952F	ENSP00000256007:C952F	C	+	2	0	LRRIQ1	83990975	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.426000	0.02443	-0.484000	0.06763	-0.982000	0.02568	TGT	LRRIQ1	-	NULL	ENSG00000133640		0.383	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	LRRIQ1	HGNC	protein_coding	OTTHUMT00000388249.2	-	0.00	67	0	G	NM_032165		85466844	+1	tier1	-	no_errors	ENST00000393217	ensembl	human	known	74_37	missense	49.38	41	40	SNP	0.000	T
LRRN3	54674	genome.wustl.edu	37	7	110763330	110763330	+	Nonsense_Mutation	SNP	C	C	T			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr7:110763330C>T	ENST00000422987.3	+	2	1333	c.502C>T	c.(502-504)Cga>Tga	p.R168*	IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000405709.2_Intron|LRRN3_ENST00000451085.1_Nonsense_Mutation_p.R168*|LRRN3_ENST00000308478.5_Nonsense_Mutation_p.R168*	NM_018334.4	NP_060804.3	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	168					positive regulation of protein phosphorylation (GO:0001934)	clathrin adaptor complex (GO:0030131)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R168*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		TAATCTTCTTCGACTTCATCT	0.363																																																	1	Substitution - Nonsense(1)	NS(1)											74.0	78.0	77.0					7																	110763330		2203	4300	6503	SO:0001587	stop_gained	0			AB060967	CCDS5754.1	7q31.1	2013-02-11			ENSG00000173114	ENSG00000173114		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17200	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 5"""					11549284	Standard	NM_001099660		Approved	NLRR3, FLJ11129, FIGLER5	uc003vfs.4	Q9H3W5	OTTHUMG00000155039	ENST00000422987.3:c.502C>T	7.37:g.110763330C>T	ENSP00000412417:p.Arg168*		O43377|Q6I9V8|Q8IYQ6	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.R168*	ENST00000422987.3	37	c.502	CCDS5754.1	7	.	.	.	.	.	.	.	.	.	.	C	41	8.855641	0.98978	.	.	ENSG00000173114	ENST00000308478;ENST00000451085;ENST00000422987;ENST00000421101	.	.	.	5.94	5.05	0.67936	.	0.000000	0.48767	D	0.000169	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.379	0.60757	0.4283:0.5717:0.0:0.0	.	.	.	.	X	168	.	ENSP00000312001:R168X	R	+	1	2	LRRN3	110550566	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.330000	0.52068	1.491000	0.48482	0.650000	0.86243	CGA	LRRN3	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000173114		0.363	LRRN3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LRRN3	HGNC	protein_coding	OTTHUMT00000338171.2		0.00	29	0	C	NM_018334		110763330	+1			no_errors	ENST00000308478	ensembl	human	known	74_37	nonsense	6.45	29	2	SNP	1.000	T
MAP2K4P1	139201	genome.wustl.edu	37	X	72745083	72745083	+	RNA	SNP	G	G	T			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chrX:72745083G>T	ENST00000602584.1	-	0	1566					NR_029423.1				mitogen-activated protein kinase kinase 4 pseudogene 1																		AAGGAAATCAGCCCGTGGCCA	0.443																																																	0																																												0					Xq13.2	2013-08-05			ENSG00000269904	ENSG00000269904			43837	pseudogene	pseudogene							Standard	NR_029423		Approved		uc022bza.1		OTTHUMG00000021833		X.37:g.72745083G>T				RNA	SNP	-	NULL	ENST00000602584.1	37	NULL		X																																																																																			MAP2K4P1	-	-	ENSG00000269904		0.443	MAP2K4P1-002	KNOWN	basic	processed_transcript	MAP2K4P1	HGNC	pseudogene	OTTHUMT00000467477.1	-	0.00	22	0	G			72745083	-1	tier1	-	no_errors	ENST00000602584	ensembl	human	known	74_37	rna	78.95	4	15	SNP	0.998	T
MARCH4	57574	genome.wustl.edu	37	2	217124265	217124265	+	Silent	SNP	G	G	T	rs530847926	byFrequency	TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr2:217124265G>T	ENST00000273067.4	-	4	2769	c.1003C>A	c.(1003-1005)Cgg>Agg	p.R335R	AC012513.6_ENST00000417481.1_RNA	NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase	335						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)		GAGGAGGTCCGGGGGTTGGTC	0.617																																																	0													80.0	72.0	75.0					2																	217124265		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1003C>A	2.37:g.217124265G>T			Q4KMN7|Q86WR8	Silent	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH	p.R335	ENST00000273067.4	37	c.1003	CCDS33376.1	2																																																																																			MARCH4	-	NULL	ENSG00000144583		0.617	MARCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARCH4	HGNC	protein_coding	OTTHUMT00000337272.2	-	0.00	65	0	G	NM_020814		217124265	-1	tier1	-	no_errors	ENST00000273067	ensembl	human	known	74_37	silent	40.85	42	29	SNP	1.000	T
MARCH6	10299	genome.wustl.edu	37	5	10411602	10411602	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr5:10411602C>T	ENST00000274140.5	+	19	1981	c.1849C>T	c.(1849-1851)Cct>Tct	p.P617S	MARCH6_ENST00000510792.1_Missense_Mutation_p.P315S|MARCH6_ENST00000503788.1_Missense_Mutation_p.P512S|MARCH6_ENST00000449913.2_Missense_Mutation_p.P569S	NM_005885.3	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	617					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						GCAGGGAGGGCCTGTTGGCTT	0.448																																																	0													73.0	70.0	71.0					5																	10411602		2203	4300	6503	SO:0001583	missense	0			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.1849C>T	5.37:g.10411602C>T	ENSP00000274140:p.Pro617Ser		A5PKZ4|B4DKJ2|B4DT33|D3DTC8|O14670|Q86X77	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH	p.P617S	ENST00000274140.5	37	c.1849	CCDS34135.1	5	.	.	.	.	.	.	.	.	.	.	C	20.6	4.021596	0.75275	.	.	ENSG00000145495	ENST00000449913;ENST00000503788;ENST00000274140;ENST00000510792	T;T;T;T	0.33865	1.39;1.39;1.39;1.39	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.59514	0.2199	M	0.74258	2.255	0.80722	D	1	P;D;D;D	0.67145	0.735;0.995;0.996;0.973	B;P;P;P	0.62298	0.284;0.844;0.9;0.593	T	0.59456	-0.7451	10	0.45353	T	0.12	-19.514	19.2764	0.94032	0.0:1.0:0.0:0.0	.	512;569;197;617	B4DKJ2;B4DT33;B2RBJ1;O60337	.;.;.;MARH6_HUMAN	S	569;512;617;315	ENSP00000414643:P569S;ENSP00000425930:P512S;ENSP00000274140:P617S;ENSP00000424512:P315S	ENSP00000274140:P617S	P	+	1	0	MARCH6	10464602	1.000000	0.71417	0.650000	0.29550	0.984000	0.73092	7.434000	0.80377	2.628000	0.89032	0.563000	0.77884	CCT	MARCH6	-	NULL	ENSG00000145495		0.448	MARCH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARCH6	HGNC	protein_coding	OTTHUMT00000366919.2		0.00	55	0	C	NM_005885		10411602	+1			no_errors	ENST00000274140	ensembl	human	known	74_37	missense	9.52	38	4	SNP	1.000	T
MCPH1	79648	genome.wustl.edu	37	8	6289099	6289099	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr8:6289099delA	ENST00000344683.5	+	4	389	c.313delA	c.(313-315)aaafs	p.K107fs	MCPH1_ENST00000519480.1_Frame_Shift_Del_p.K107fs|MCPH1_ENST00000522905.1_Frame_Shift_Del_p.K107fs	NM_024596.3	NP_078872	Q8NEM0	MCPH1_HUMAN	microcephalin 1	107					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)		AAGCCTAATTAAAAAAAAAGT	0.274																																					Colon(95;1448 1467 8277 34473 35819)												0													83.0	81.0	82.0					8																	6289099		1811	4070	5881	SO:0001589	frameshift_variant	0			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.313delA	8.37:g.6289099delA	ENSP00000342924:p.Lys107fs		B4DWW2|E9PGU5|E9PH63|Q66GU1|Q9H9C7	Frame_Shift_Del	DEL	pfam_Microcephalin,pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom,prints_BRCA1	p.K107fs	ENST00000344683.5	37	c.313	CCDS43689.1	8																																																																																			MCPH1	-	NULL	ENSG00000147316		0.274	MCPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCPH1	HGNC	protein_coding	OTTHUMT00000374532.2		0.00	24	0	A	NM_024596		6289099	+1	tier1		no_errors	ENST00000344683	ensembl	human	known	74_37	frame_shift_del	13.04	20	3	DEL	0.022	-
MDGA1	266727	genome.wustl.edu	37	6	37622643	37622643	+	Silent	SNP	C	C	T			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr6:37622643C>T	ENST00000434837.3	-	5	1823	c.645G>A	c.(643-645)caG>caA	p.Q215Q	MDGA1_ENST00000297153.7_Silent_p.Q215Q|MDGA1_ENST00000505425.1_Silent_p.Q215Q	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	215	Ig-like 2.				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						GCACAGACACCTGGCAGGTGT	0.612																																																	0													144.0	155.0	152.0					6																	37622643		2160	4254	6414	SO:0001819	synonymous_variant	0			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.645G>A	6.37:g.37622643C>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_dom	p.Q215	ENST00000434837.3	37	c.645	CCDS47417.1	6																																																																																			MDGA1	-	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000112139		0.612	MDGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MDGA1	HGNC	protein_coding	OTTHUMT00000040419.3	-	0.00	61	0	C			37622643	-1	tier1	-	no_errors	ENST00000297153	ensembl	human	known	74_37	silent	35.85	34	19	SNP	1.000	T
METRNL	284207	genome.wustl.edu	37	17	81052284	81052284	+	Silent	SNP	G	G	A			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr17:81052284G>A	ENST00000320095.7	+	4	1025	c.900G>A	c.(898-900)gaG>gaA	p.E300E	METRNL_ENST00000571814.1_Silent_p.E218E|METRNL_ENST00000570778.1_Silent_p.E218E	NM_001004431.1	NP_001004431.1	Q641Q3	METRL_HUMAN	meteorin, glial cell differentiation regulator-like	300					brown fat cell differentiation (GO:0050873)|fat cell differentiation (GO:0045444)|negative regulation of inflammatory response (GO:0050728)|positive regulation of brown fat cell differentiation (GO:0090336)|positive regulation of energy homeostasis (GO:2000507)|response to cold (GO:0009409)|response to muscle activity (GO:0014850)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hormone activity (GO:0005179)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	8	Breast(20;0.000443)|all_neural(118;0.0779)		BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			ATGCCCAGGAGAGGGGGCTGA	0.652																																																	0													26.0	27.0	27.0					17																	81052284		2193	4289	6482	SO:0001819	synonymous_variant	0			AK093748	CCDS32779.1	17q25.3	2004-12-01				ENSG00000176845			27584	protein-coding gene	gene with protein product							Standard	NM_001004431		Approved		uc002kgh.3	Q641Q3		ENST00000320095.7:c.900G>A	17.37:g.81052284G>A			B3KSJ5|Q86VM0	Silent	SNP	NULL	p.E300	ENST00000320095.7	37	c.900	CCDS32779.1	17																																																																																			METRNL	-	NULL	ENSG00000176845		0.652	METRNL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METRNL	HGNC	protein_coding	OTTHUMT00000438902.1	-	0.00	133	0	G	NM_001004431		81052284	+1	tier1	-	no_errors	ENST00000320095	ensembl	human	known	74_37	silent	36.60	97	56	SNP	0.011	A
METTL7B	196410	genome.wustl.edu	37	12	56075629	56075629	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr12:56075629C>A	ENST00000394252.3	+	1	300	c.91C>A	c.(91-93)Ctg>Atg	p.L31M		NM_152637.2	NP_689850.2	Q6UX53	MET7B_HUMAN	methyltransferase like 7B	31							methyltransferase activity (GO:0008168)			kidney(1)|large_intestine(1)|lung(4)	6						CTGGCAGCCCCTGTGCAAAAG	0.597																																																	0													24.0	26.0	25.0					12																	56075629		692	1591	2283	SO:0001583	missense	0				CCDS8887.2	12q13.2	2012-06-12			ENSG00000170439	ENSG00000170439			28276	protein-coding gene	gene with protein product	"""associated with lipid droplets 1"""					17004324	Standard	NM_152637		Approved	MGC17301, ALDI	uc010spr.2	Q6UX53	OTTHUMG00000152665	ENST00000394252.3:c.91C>A	12.37:g.56075629C>A	ENSP00000377796:p.Leu31Met		A8K247|Q8WUI1	Missense_Mutation	SNP	pfam_Methyltransf_11,pfam_Methyltransf_12,pfam_UbiE/COQ5_MeTrFase,pfam_Methyltransferase-rel	p.L31M	ENST00000394252.3	37	c.91	CCDS8887.2	12	.	.	.	.	.	.	.	.	.	.	C	8.262	0.811468	0.16537	.	.	ENSG00000170439	ENST00000394252	T	0.23552	1.9	4.85	-0.939	0.10408	.	0.551245	0.17241	U	0.181536	T	0.19765	0.0475	L	0.56769	1.78	0.09310	N	1	B	0.25441	0.126	B	0.26770	0.073	T	0.16988	-1.0384	10	0.44086	T	0.13	.	3.6035	0.08034	0.4179:0.3013:0.0:0.2808	.	31	Q6UX53	MET7B_HUMAN	M	31	ENSP00000377796:L31M	ENSP00000377796:L31M	L	+	1	2	METTL7B	54361896	0.000000	0.05858	0.287000	0.24848	0.030000	0.12068	-1.160000	0.03147	-0.060000	0.13132	-0.345000	0.07892	CTG	METTL7B	-	NULL	ENSG00000170439		0.597	METTL7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL7B	HGNC	protein_coding	OTTHUMT00000327271.1		0.00	22	0	C	NM_152637		56075629	+1			no_errors	ENST00000394252	ensembl	human	known	74_37	missense	11.43	31	4	SNP	0.002	A
MFAP1	4236	genome.wustl.edu	37	15	44107236	44107236	+	Silent	SNP	C	C	T			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr15:44107236C>T	ENST00000267812.3	-	3	568	c.336G>A	c.(334-336)gtG>gtA	p.V112V		NM_005926.2	NP_005917.2	P55081	MFAP1_HUMAN	microfibrillar-associated protein 1	112					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)		TCTCTCCTACCACTTCAGGTT	0.418																																																	0													215.0	192.0	199.0					15																	44107236		2198	4298	6496	SO:0001819	synonymous_variant	0				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.336G>A	15.37:g.44107236C>T			Q86TG6	Silent	SNP	pfam_MFAP1_C	p.V112	ENST00000267812.3	37	c.336	CCDS10105.1	15																																																																																			MFAP1	-	NULL	ENSG00000140259		0.418	MFAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFAP1	HGNC	protein_coding	OTTHUMT00000133491.2	-	0.00	48	0	C	NM_005926		44107236	-1	tier1	-	no_errors	ENST00000267812	ensembl	human	known	74_37	silent	31.43	24	11	SNP	0.793	T
MICA	100507436	genome.wustl.edu	37	6	31378347	31378347	+	Missense_Mutation	SNP	C	C	T	rs17206504	byFrequency	TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr6:31378347C>T	ENST00000449934.2	+	2	152	c.98C>T	c.(97-99)aCg>aTg	p.T33M	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)				TATAACCTCACGGTGCTGTCC	0.502																																																	0													6.0	7.0	7.0					6																	31378347		688	1574	2262	SO:0001583	missense	0			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.98C>T	6.37:g.31378347C>T	ENSP00000413079:p.Thr33Met			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_dom	p.T33M	ENST00000449934.2	37	c.98	CCDS56412.1	6	.	.	.	.	.	.	.	.	.	.	N	8.971	0.973057	0.18736	.	.	ENSG00000204520	ENST00000364810;ENST00000399172;ENST00000449934;ENST00000421350	T;T	0.01165	5.24;5.24	2.89	0.925	0.19424	.	0.448615	0.16322	N	0.219527	T	0.00524	0.0017	M	0.69185	2.1	0.09310	N	1	P	0.37141	0.584	B	0.31946	0.138	T	0.48305	-0.9047	10	0.48119	T	0.1	.	5.8614	0.18749	0.0:0.6933:0.0:0.3067	rs17206504	33	Q96QC4	.	M	33;33;33;20	ENSP00000413079:T33M;ENSP00000402410:T20M	ENSP00000365394:T33M	T	+	2	0	MICA	31486326	0.000000	0.05858	0.002000	0.10522	0.097000	0.18754	-0.711000	0.05019	0.361000	0.24292	0.306000	0.20318	ACG	MICA	-	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog	ENSG00000204520		0.502	MICA-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	MICA	HGNC	protein_coding	OTTHUMT00000076101.7		0.00	57	0	C	NM_001177519		31378347	+1			no_errors	ENST00000449934	ensembl	human	known	74_37	missense	6.06	62	4	SNP	0.000	T
AMOT	154796	genome.wustl.edu	37	X	112023977	112023978	+	Intron	INS	-	-	A			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chrX:112023977_112023978insA	ENST00000524145.1	-	10	2548				AMOT_ENST00000371959.3_Intron|AMOT_ENST00000371958.1_3'UTR|MIR4329_ENST00000582643.1_RNA|AMOT_ENST00000304758.1_Intron|AMOT_ENST00000371962.1_Intron			Q4VCS5	AMOT_HUMAN	angiomotin						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						GTCTCAGGAGGAAAAAAAAACT	0.48																																																	0																																										SO:0001627	intron_variant	0			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.2473+135->T	X.37:g.112023986_112023986dupA			Q504X5|Q9HD27|Q9UPT1	RNA	INS	-	NULL	ENST00000524145.1	37	NULL	CCDS48154.1	X																																																																																			MIR4329	-	-	ENSG00000263351		0.480	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MIR4329	HGNC	protein_coding	OTTHUMT00000378570.1		0.00	34	0	-	NM_133265		112023978	-1	tier1		no_errors	ENST00000582643	ensembl	human	known	74_37	rna	10.00	45	5	INS	0.000:0.002	A
MORC2	22880	genome.wustl.edu	37	22	31318335	31318335	+	IGR	SNP	G	G	A			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr22:31318335G>A	ENST00000397641.3	-	0	5181				MORC2-AS1_ENST00000432624.2_RNA|MORC2-AS1_ENST00000441558.1_RNA|MORC2-AS1_ENST00000609557.1_RNA|MORC2-AS1_ENST00000422995.2_RNA			Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2							cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						CGCCTCGAGCGTGTGGCGGGA	0.582																																																	0																																										SO:0001628	intergenic_variant	0			AB020659	CCDS33636.1	22q12.2	2005-06-15	2005-06-15	2005-06-15	ENSG00000133422	ENSG00000133422			23573	protein-coding gene	gene with protein product			"""zinc finger, CW-type with coiled-coil domain 1"", ""zinc finger, CW type with coiled-coil domain 1"""	ZCWCC1		14607086	Standard	XM_005261391		Approved	ZCW3, KIAA0852, AC004542.C22.1	uc003aje.1	Q9Y6X9	OTTHUMG00000151193		22.37:g.31318335G>A			B2RNB1|Q9UF28|Q9Y6V2	RNA	SNP	-	NULL	ENST00000397641.3	37	NULL		22																																																																																			MORC2-AS1	-	-	ENSG00000235989		0.582	MORC2-001	KNOWN	basic|appris_principal	protein_coding	MORC2-AS1	HGNC	protein_coding	OTTHUMT00000321710.2	-	0.00	27	0	G	NM_014941		31318335	+1	tier1	-	no_errors	ENST00000422995	ensembl	human	known	74_37	rna	60.00	12	18	SNP	0.003	A
MROH9	80133	genome.wustl.edu	37	1	170934323	170934323	+	Nonsense_Mutation	SNP	C	C	A			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr1:170934323C>A	ENST00000367758.3	+	7	506	c.407C>A	c.(406-408)tCa>tAa	p.S136*	MROH9_ENST00000367759.4_Nonsense_Mutation_p.S136*	NM_025063.2	NP_079339.2	Q5TGP6	MROH9_HUMAN	maestro heat-like repeat family member 9	136								p.S136*(2)									AAAGATAGCTCATATCTGCAA	0.358																																																	2	Substitution - Nonsense(2)	lung(2)											147.0	138.0	141.0					1																	170934323		1872	4109	5981	SO:0001587	stop_gained	0			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.407C>A	1.37:g.170934323C>A	ENSP00000356732:p.Ser136*		A0PJM0|A0PJM2|F5GWX6|Q9H5D7	Nonsense_Mutation	SNP	superfamily_ARM-type_fold	p.S136*	ENST00000367758.3	37	c.407	CCDS41436.1	1	.	.	.	.	.	.	.	.	.	.	C	19.93	3.917461	0.73098	.	.	ENSG00000117501	ENST00000367759;ENST00000367758	.	.	.	5.54	-7.36	0.01417	.	1.437920	0.04637	N	0.404705	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.0792	4.5129	0.11921	0.1067:0.1966:0.1143:0.5824	.	.	.	.	X	136	.	ENSP00000356732:S136X	S	+	2	0	C1orf129	169200947	0.000000	0.05858	0.000000	0.03702	0.152000	0.21847	-1.691000	0.01920	-1.014000	0.03379	0.455000	0.32223	TCA	MROH9	-	superfamily_ARM-type_fold	ENSG00000117501		0.358	MROH9-001	KNOWN	basic|CCDS	protein_coding	MROH9	HGNC	protein_coding	OTTHUMT00000099327.1		0.00	41	0	C	NM_025063		170934323	+1			no_errors	ENST00000367759	ensembl	human	known	74_37	nonsense	5.56	34	2	SNP	0.000	A
MTHFD1L	25902	genome.wustl.edu	37	6	151336054	151336054	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr6:151336054G>T	ENST00000367321.3	+	23	2620	c.2346G>T	c.(2344-2346)caG>caT	p.Q782H		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	782	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)		GTAACCTCCAGAAGCAAATTC	0.478											OREG0017732	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													136.0	114.0	121.0					6																	151336054		2203	4300	6503	SO:0001583	missense	0			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.2346G>T	6.37:g.151336054G>T	ENSP00000356290:p.Gln782His	1739	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,superfamily_P-loop_NTPase,prints_THF_DH/CycHdrlase	p.Q782H	ENST00000367321.3	37	c.2346	CCDS5228.1	6	.	.	.	.	.	.	.	.	.	.	G	18.21	3.572516	0.65765	.	.	ENSG00000120254	ENST00000367321;ENST00000420192	T;T	0.22945	1.93;1.93	6.16	5.29	0.74685	.	0.153233	0.64402	D	0.000014	T	0.33177	0.0854	M	0.76328	2.33	0.80722	D	1	P;B;P	0.48911	0.915;0.158;0.917	P;B;P	0.51742	0.663;0.409;0.678	T	0.15122	-1.0448	10	0.48119	T	0.1	.	18.7262	0.91714	0.0612:0.0:0.9388:0.0	.	783;537;782	B7ZM99;B2RD24;Q6UB35	.;.;C1TM_HUMAN	H	782;13	ENSP00000356290:Q782H;ENSP00000395158:Q13H	ENSP00000356290:Q782H	Q	+	3	2	MTHFD1L	151377747	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	3.159000	0.50731	0.950000	0.37743	-0.813000	0.03139	CAG	MTHFD1L	-	pfam_Formate_THF_ligase,superfamily_P-loop_NTPase	ENSG00000120254		0.478	MTHFD1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MTHFD1L	HGNC	protein_coding	OTTHUMT00000042699.1		0.00	57	0	G	NM_015440		151336054	+1			no_errors	ENST00000367321	ensembl	human	known	74_37	missense	5.88	64	4	SNP	1.000	T
MUC12	10071	genome.wustl.edu	37	7	100640747	100640747	+	Silent	SNP	C	C	T			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr7:100640747C>T	ENST00000379442.3	+	5	7332	c.7332C>T	c.(7330-7332)ccC>ccT	p.P2444P	MUC12_ENST00000536621.1_Silent_p.P2301P			Q9UKN1	MUC12_HUMAN	mucin 12, cell surface associated	2444	28 X 19 AA approximate tandem repeats of E-E-S-X-X-X-H-X-X-P-X-X-T-X-T-X-X-X-P.|Ser-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|regulation of cell growth (GO:0001558)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)				breast(6)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)|stomach(13)	25						CAGCCTTCCCCGGCAGCCCAG	0.582																																																	0													13.0	15.0	15.0					7																	100640747		27	250	277	SO:0001819	synonymous_variant	0			AF147790, AF147791	CCDS55139.1	7q22	2007-01-17	2006-03-14		ENSG00000205277	ENSG00000205277		"""Mucins"""	7510	protein-coding gene	gene with protein product		604609	"""mucin 11"""	MUC11		10463611	Standard	NM_001164462		Approved		uc003uxo.3	Q9UKN1	OTTHUMG00000157042	ENST00000379442.3:c.7332C>T	7.37:g.100640747C>T			A6ND38|F5GWV9|Q9UKN0	Silent	SNP	pfam_SEA_dom	p.P2301	ENST00000379442.3	37	c.6903		7																																																																																			MUC12	-	NULL	ENSG00000205277		0.582	MUC12-001	NOVEL	basic|appris_candidate_longest	protein_coding	MUC12	HGNC	protein_coding	OTTHUMT00000347234.1	-	0.00	58	0	C	XM_379904		100640747	+1	tier1	-	no_errors	ENST00000536621	ensembl	human	known	74_37	silent	31.37	35	16	SNP	0.000	T
MUC16	94025	genome.wustl.edu	37	19	9070725	9070725	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr19:9070725G>T	ENST00000397910.4	-	3	16924	c.16721C>A	c.(16720-16722)gCt>gAt	p.A5574D		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5576	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						CTGTGATGTAGCCCCAGGAGT	0.517																																																	0													236.0	219.0	225.0					19																	9070725		2030	4179	6209	SO:0001583	missense	0			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.16721C>A	19.37:g.9070725G>T	ENSP00000381008:p.Ala5574Asp		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.A5574D	ENST00000397910.4	37	c.16721	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	g	4.314	0.057569	0.08339	.	.	ENSG00000181143	ENST00000397910	T	0.02812	4.15	1.67	0.527	0.17084	.	.	.	.	.	T	0.02230	0.0069	N	0.24115	0.695	.	.	.	B	0.20459	0.045	B	0.10450	0.005	T	0.32268	-0.9913	8	0.87932	D	0	.	5.1167	0.14838	0.0:0.0:0.6544:0.3456	.	5574	B5ME49	.	D	5574	ENSP00000381008:A5574D	ENSP00000381008:A5574D	A	-	2	0	MUC16	8931725	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.161000	0.10026	0.242000	0.21303	0.299000	0.19835	GCT	MUC16	-	NULL	ENSG00000181143		0.517	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1		0.00	65	0	G	NM_024690		9070725	-1			no_errors	ENST00000397910	ensembl	human	known	74_37	missense	6.00	47	3	SNP	0.001	T
MUC17	140453	genome.wustl.edu	37	7	100676491	100676491	+	Missense_Mutation	SNP	C	C	G			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr7:100676491C>G	ENST00000306151.4	+	3	1858	c.1794C>G	c.(1792-1794)aaC>aaG	p.N598K		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	598	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)					CTGACTCCAACACTTTTGTGA	0.468																																																	0													233.0	236.0	235.0					7																	100676491		2203	4300	6503	SO:0001583	missense	0			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.1794C>G	7.37:g.100676491C>G	ENSP00000302716:p.Asn598Lys		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom	p.N598K	ENST00000306151.4	37	c.1794	CCDS34711.1	7	.	.	.	.	.	.	.	.	.	.	C	1.354	-0.590613	0.03799	.	.	ENSG00000169876	ENST00000306151	T	0.02395	4.31	1.33	-2.65	0.06095	.	.	.	.	.	T	0.01156	0.0038	N	0.03608	-0.345	0.09310	N	1	B	0.18166	0.026	B	0.06405	0.002	T	0.47394	-0.9121	9	0.21014	T	0.42	.	3.4345	0.07441	0.0:0.2876:0.2172:0.4952	.	598	Q685J3	MUC17_HUMAN	K	598	ENSP00000302716:N598K	ENSP00000302716:N598K	N	+	3	2	MUC17	100463211	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.924000	0.03996	-0.860000	0.04099	-0.531000	0.04308	AAC	MUC17	-	NULL	ENSG00000169876		0.468	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC17	HGNC	protein_coding	OTTHUMT00000347161.1	-	0.00	119	0	C	NM_001040105		100676491	+1	tier1	-	no_errors	ENST00000306151	ensembl	human	known	74_37	missense	27.62	76	29	SNP	0.007	G
MUC5B	727897	genome.wustl.edu	37	11	1247459	1247459	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr11:1247459G>A	ENST00000529681.1	+	3	210	c.152G>A	c.(151-153)cGg>cAg	p.R51Q	MUC5B_ENST00000447027.1_Missense_Mutation_p.R51Q	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	51			R -> W (in dbSNP:rs2075853).		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)		TCGCCCACCCGGCGCGTGAGC	0.672																																																	0													21.0	27.0	25.0					11																	1247459		1952	4063	6015	SO:0001583	missense	0			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.152G>A	11.37:g.1247459G>A	ENSP00000436812:p.Arg51Gln		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.R51Q	ENST00000529681.1	37	c.152	CCDS44515.2	11	.	.	.	.	.	.	.	.	.	.	G	10.36	1.327926	0.24080	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.18960	2.18;2.36	3.24	0.275	0.15659	.	.	.	.	.	T	0.14270	0.0345	L	0.52573	1.65	0.09310	N	1	B;P;P	0.35011	0.01;0.48;0.48	B;B;B	0.18561	0.002;0.013;0.022	T	0.17501	-1.0367	9	0.87932	D	0	.	5.11	0.14804	0.4158:0.0:0.5842:0.0	.	51;677;51	Q9HC84;A7Y9J9;E9PBJ0	MUC5B_HUMAN;.;.	Q	51;51;51;54	ENSP00000436812:R51Q;ENSP00000415793:R51Q	ENSP00000343037:R51Q	R	+	2	0	MUC5B	1204035	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-1.073000	0.03430	0.220000	0.20860	0.561000	0.74099	CGG	MUC5B	-	NULL	ENSG00000117983		0.672	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	HGNC	protein_coding	OTTHUMT00000390041.2	-	0.00	202	0	G	XM_001126093		1247459	+1	tier1	-	no_errors	ENST00000447027	ensembl	human	known	74_37	missense	33.89	119	61	SNP	0.001	A
MYB	4602	genome.wustl.edu	37	6	135518458	135518458	+	Intron	SNP	G	G	A	rs55983257		TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr6:135518458G>A	ENST00000367814.4	+	9	1389				MYB_ENST00000534121.1_Silent_p.S505S|MYB-AS1_ENST00000455534.1_RNA|MYB_ENST00000528774.1_Silent_p.S518S|MYB_ENST00000316528.8_Intron|MYB_ENST00000527615.1_Intron|MYB_ENST00000525369.1_Intron|MYB_ENST00000531845.1_Intron|MYB_ENST00000442647.2_Intron|MYB_ENST00000341911.5_Silent_p.S521S|MYB_ENST00000533624.1_Intron|MYB_ENST00000534044.1_Intron	NM_001161659.1|NM_005375.2	NP_001155131.1|NP_005366.2	P10242	MYB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog						B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|chromatin remodeling (GO:0006338)|embryonic digestive tract development (GO:0048566)|G1/S transition of mitotic cell cycle (GO:0000082)|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)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 methylation (GO:0051574)|positive regulation of T-helper cell differentiation (GO:0045624)|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)|thymus development (GO:0048538)	nuclear matrix (GO:0016363)	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(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		TCTCTCCCTCGCAGGTAGAAC	0.453			T	NFIB	adenoid cystic carcinoma																																			Dom	yes		6	6q22-23	4602	v-myb myeloblastosis viral oncogene homolog		E	0								G	,,,,,,,	0,3136		0,0,1568	63.0	61.0	62.0		,1563,1554,,1515,,,	1.7	1.0	6	dbSNP_129	62	1,7163		0,1,3581	no	intron,coding-synonymous,coding-synonymous,intron,coding-synonymous,intron,intron,intron	MYB	NM_001130172.1,NM_001130173.1,NM_001161656.1,NM_001161657.1,NM_001161658.1,NM_001161659.1,NM_001161660.1,NM_005375.2	,,,,,,,	0,1,5149	AA,AG,GG		0.014,0.0,0.0097	,,,,,,,	,521/762,518/759,,505/746,,,	135518458	1,10299	1568	3582	5150	SO:0001627	intron_variant	0				CCDS5174.1, CCDS47481.1, CCDS47482.1, CCDS55058.1, CCDS55059.1, CCDS55060.1, CCDS55061.1, CCDS55062.1	6q22-q23	2013-07-09	2013-07-09		ENSG00000118513	ENSG00000118513			7545	protein-coding gene	gene with protein product		189990				17599807	Standard	NM_001130172		Approved	c-myb	uc003qfh.3	P10242	OTTHUMG00000015629	ENST00000367814.4:c.1203+1318G>A	6.37:g.135518458G>A			E9PI07|E9PLZ5|E9PNA4|E9PNL6|E9PRS2|P78391|P78392|P78525|P78526|Q14023|Q14024|Q708E4|Q708E7|Q9UE83	Silent	SNP	pfam_C-myb_C,pfam_SANT/Myb,pfam_Tscrpt_reg_Wos2-domain,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.S521	ENST00000367814.4	37	c.1563	CCDS5174.1	6																																																																																			MYB	-	pfam_C-myb_C	ENSG00000118513		0.453	MYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MYB	HGNC	protein_coding	OTTHUMT00000042347.4		0.00	34	0	G			135518458	+1			no_errors	ENST00000341911	ensembl	human	known	74_37	silent	5.13	37	2	SNP	1.000	A
MYBPC3	4607	genome.wustl.edu	37	11	47353666	47353666	+	Silent	SNP	G	G	A			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr11:47353666G>A	ENST00000545968.1	-	33	3825	c.3771C>T	c.(3769-3771)aaC>aaT	p.N1257N	MYBPC3_ENST00000256993.4_Silent_p.N1256N|MYBPC3_ENST00000399249.2_Silent_p.N1257N	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	1257	Ig-like C2-type 7.				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)		CGCCCTGTAAGTTGGTGGCCC	0.647																																																	0													40.0	44.0	43.0					11																	47353666		2000	4155	6155	SO:0001819	synonymous_variant	0			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		ENST00000545968.1:c.3771C>T	11.37:g.47353666G>A			A5PL00|Q16410|Q6R2F7|Q9UE27|Q9UM53	Silent	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_dom	p.N1257	ENST00000545968.1	37	c.3771	CCDS53621.1	11																																																																																			MYBPC3	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000134571		0.647	MYBPC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYBPC3	HGNC	protein_coding	OTTHUMT00000392271.3	-	0.00	22	0	G			47353666	-1	tier1	-	no_errors	ENST00000399249	ensembl	human	known	74_37	silent	22.22	21	6	SNP	0.711	A
MYH6	4624	genome.wustl.edu	37	14	23863421	23863421	+	Silent	SNP	C	C	T			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr14:23863421C>T	ENST00000356287.3	-	20	2570	c.2541G>A	c.(2539-2541)acG>acA	p.T847T	MYH6_ENST00000405093.3_Silent_p.T847T			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	847					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)		TCTCCTTCTCCGTCTCTGCGC	0.557																																																	0													124.0	112.0	116.0					14																	23863421		2203	4300	6503	SO:0001819	synonymous_variant	0			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.2541G>A	14.37:g.23863421C>T			A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Silent	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.T847	ENST00000356287.3	37	c.2541	CCDS9600.1	14																																																																																			MYH6	-	NULL	ENSG00000197616		0.557	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH6	HGNC	protein_coding	OTTHUMT00000071796.3	-	0.00	48	0	C			23863421	-1	tier1	-	no_errors	ENST00000356287	ensembl	human	known	74_37	silent	40.68	35	24	SNP	0.002	T
MYH8	4626	genome.wustl.edu	37	17	10304048	10304048	+	Silent	SNP	G	G	T			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr17:10304048G>T	ENST00000403437.2	-	27	3488	c.3394C>A	c.(3394-3396)Cga>Aga	p.R1132R	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1132					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						GCTTTGGCTCGGGACGCCCTC	0.557									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																																								0													48.0	54.0	52.0					17																	10304048		2203	4300	6503	SO:0001819	synonymous_variant	0	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.3394C>A	17.37:g.10304048G>T			Q14910	Silent	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.R1132	ENST00000403437.2	37	c.3394	CCDS11153.1	17																																																																																			MYH8	-	pfam_Myosin_tail	ENSG00000133020		0.557	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH8	HGNC	protein_coding	OTTHUMT00000252724.2	-	0.00	63	0	G	NM_002472		10304048	-1	tier1	-	no_errors	ENST00000403437	ensembl	human	known	74_37	silent	58.62	24	34	SNP	1.000	T
MZB1	51237	genome.wustl.edu	37	5	138725510	138725512	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	CAG	CAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr5:138725510_138725512delCAG	ENST00000302125.8	-	1	91_93	c.34_36delCTG	c.(34-36)ctgdel	p.L12del	MZB1_ENST00000412103.2_5'UTR|MZB1_ENST00000457570.2_In_Frame_Del_p.L12del	NM_016459.3	NP_057543.2	Q8WU39	MZB1_HUMAN	marginal zone B and B1 cell-specific protein	12					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)											CCCAGGCTCCcagcagcagcagc	0.626																																																	0										3,22,3657		0,0,3,3,16,1819						1.3	0.7			37	1,48,7121		0,0,1,6,36,3542	no	codingComplex	MZB1	NM_016459.3		0,0,4,9,52,5361	A1A1,A1A2,A1R,A2A2,A2R,RR		0.6834,0.679,0.6819				4,70,10778				SO:0001651	inframe_deletion	0			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.34_36delCTG	5.37:g.138725519_138725521delCAG	ENSP00000303920:p.Leu12del		D2IYS0|Q7Z6N2|Q96RL5|Q9P0T3	In_Frame_Del	DEL	NULL	p.L12in_frame_del	ENST00000302125.8	37	c.36_34	CCDS47273.1	5																																																																																			MZB1	-	NULL	ENSG00000170476		0.626	MZB1-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MZB1	HGNC	protein_coding	OTTHUMT00000373055.1		0.00	39	0	CAG	NM_016459		138725512	-1	tier1		no_errors	ENST00000503481	ensembl	human	known	74_37	in_frame_del	8.82	31	3	DEL	0.366:0.352:0.265	-
NAPEPLD	222236	genome.wustl.edu	37	7	102760610	102760610	+	Nonsense_Mutation	SNP	C	C	A			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr7:102760610C>A	ENST00000417955.1	-	3	509	c.355G>T	c.(355-357)Gga>Tga	p.G119*	NAPEPLD_ENST00000341533.4_Nonsense_Mutation_p.G119*|NAPEPLD_ENST00000465647.1_Nonsense_Mutation_p.G119*|NAPEPLD_ENST00000455523.2_Nonsense_Mutation_p.G192*|NAPEPLD_ENST00000427257.1_Nonsense_Mutation_p.G119*			Q6IQ20	NAPEP_HUMAN	N-acyl phosphatidylethanolamine phospholipase D	119					phospholipid catabolic process (GO:0009395)	extracellular vesicular exosome (GO:0070062)|photoreceptor outer segment membrane (GO:0042622)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						TCCCTCACTCCAGCTTCTTCA	0.433																																																	0													118.0	110.0	113.0					7																	102760610		2203	4300	6503	SO:0001587	stop_gained	0			BC037350, AY357337	CCDS5729.1	7q22.1	2014-03-14			ENSG00000161048	ENSG00000161048	3.1.4.54		21683	protein-coding gene	gene with protein product	"""chromosome 7 open reading frame 18, N-acyl-phosphatidylethanolamine-hydrolyzing phospholipase D"""	612334				14634025, 15820312, 18067139	Standard	NM_198990		Approved	FMP30, C7orf18, NAPE-PLD	uc003vbd.2	Q6IQ20	OTTHUMG00000157204	ENST00000417955.1:c.355G>T	7.37:g.102760610C>A	ENSP00000407112:p.Gly119*		Q5CZ87|Q769K1	Nonsense_Mutation	SNP	NULL	p.G192*	ENST00000417955.1	37	c.574	CCDS5729.1	7	.	.	.	.	.	.	.	.	.	.	C	39	7.527567	0.98339	.	.	ENSG00000161048	ENST00000341533;ENST00000417955;ENST00000465647;ENST00000427257;ENST00000455523;ENST00000418294	.	.	.	6.02	4.19	0.49359	.	0.191735	0.56097	D	0.000035	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	-43.6001	11.8364	0.52327	0.0:0.8109:0.1234:0.0658	.	.	.	.	X	119;119;119;119;192;119	.	ENSP00000340093:G119X	G	-	1	0	NAPEPLD	102547846	0.998000	0.40836	0.474000	0.27266	0.962000	0.63368	4.892000	0.63193	0.846000	0.35142	-0.136000	0.14681	GGA	NAPEPLD	-	NULL	ENSG00000161048		0.433	NAPEPLD-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	NAPEPLD	HGNC	protein_coding	OTTHUMT00000347904.1		0.00	38	0	C	NM_198990		102760610	-1			no_errors	ENST00000455523	ensembl	human	known	74_37	nonsense	5.88	32	2	SNP	0.987	A
NAV2	89797	genome.wustl.edu	37	11	20099124	20099124	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr11:20099124G>T	ENST00000396087.3	+	25	5277	c.5178G>T	c.(5176-5178)caG>caT	p.Q1726H	NAV2_ENST00000311043.8_Missense_Mutation_p.Q734H|NAV2_ENST00000396085.1_Missense_Mutation_p.Q1670H|NAV2_ENST00000349880.4_Missense_Mutation_p.Q1670H|NAV2_ENST00000360655.4_Missense_Mutation_p.Q1606H|NAV2_ENST00000527559.2_Missense_Mutation_p.Q1655H|NAV2_ENST00000533917.1_Missense_Mutation_p.Q734H|NAV2_ENST00000540292.1_Missense_Mutation_p.Q1657H	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1726					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						CCTTTGAACAGAGTCTTGGTA	0.473																																																	0													92.0	83.0	86.0					11																	20099124		2203	4300	6503	SO:0001583	missense	0			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.5178G>T	11.37:g.20099124G>T	ENSP00000379396:p.Gln1726His		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,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain	p.Q1726H	ENST00000396087.3	37	c.5178	CCDS58126.1	11	.	.	.	.	.	.	.	.	.	.	G	27.5	4.833109	0.91036	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292;ENST00000533917;ENST00000525322;ENST00000311043;ENST00000536595	T;D;D;D;D;D;T;T;T	0.94280	-1.19;-3.39;-3.39;-3.39;-3.39;-3.39;-1.19;-1.19;-1.19	5.74	4.82	0.62117	.	0.000000	0.64402	D	0.000007	D	0.95875	0.8657	M	0.69358	2.11	0.80722	D	1	D;D;D;D;D;D	0.76494	0.997;0.999;0.999;0.998;0.998;0.999	D;D;D;D;D;D	0.85130	0.947;0.997;0.997;0.996;0.976;0.997	D	0.94961	0.8108	9	.	.	.	.	15.6957	0.77494	0.0687:0.0:0.9313:0.0	.	1670;1726;734;719;1670;1606	A7E2D6;Q8IVL1;Q8IVL1-5;E9PNV5;Q8IVL1-3;Q8IVL1-4	.;NAV2_HUMAN;.;.;.;.	H	1606;1670;1670;1726;1655;1657;734;719;734;719	ENSP00000353871:Q1606H;ENSP00000379394:Q1670H;ENSP00000309577:Q1670H;ENSP00000379396:Q1726H;ENSP00000435395:Q1655H;ENSP00000443489:Q1657H;ENSP00000437316:Q734H;ENSP00000437136:Q719H;ENSP00000312169:Q734H	.	Q	+	3	2	NAV2	20055700	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.874000	0.87199	2.873000	0.98535	0.563000	0.77884	CAG	NAV2	-	NULL	ENSG00000166833		0.473	NAV2-001	KNOWN	basic|CCDS	protein_coding	NAV2	HGNC	protein_coding	OTTHUMT00000324112.1	-	0.00	74	0	G	NM_145117		20099124	+1	tier1	-	no_errors	ENST00000396087	ensembl	human	known	74_37	missense	6.25	59	4	SNP	1.000	T
NCAM2	4685	genome.wustl.edu	37	21	22707830	22707830	+	Missense_Mutation	SNP	G	G	A	rs536033294		TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr21:22707830G>A	ENST00000400546.1	+	7	992	c.743G>A	c.(742-744)gGc>gAc	p.G248D	NCAM2_ENST00000535285.1_Missense_Mutation_p.G273D|NCAM2_ENST00000284894.7_Missense_Mutation_p.G106D	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	248	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)				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)		TTTAGGAATGGCAAGCTCATT	0.343													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15802	0.0		0.0	False		,,,				2504	0.0																0													73.0	65.0	68.0					21																	22707830		1844	4095	5939	SO:0001583	missense	0				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.743G>A	21.37:g.22707830G>A	ENSP00000383392:p.Gly248Asp		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_dom,prints_Neural_cell_adh	p.G248D	ENST00000400546.1	37	c.743	CCDS42910.1	21	.	.	.	.	.	.	.	.	.	.	G	22.6	4.305741	0.81247	.	.	ENSG00000154654	ENST00000400546;ENST00000284894;ENST00000535285	T;T;T	0.50277	0.75;0.75;0.75	5.32	5.32	0.75619	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.65698	0.2716	L	0.53617	1.68	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	T	0.67741	-0.5592	10	0.72032	D	0.01	-14.4322	17.5596	0.87902	0.0:0.0:1.0:0.0	.	273;106;248	B7Z841;B7Z5K2;O15394	.;.;NCAM2_HUMAN	D	248;106;273	ENSP00000383392:G248D;ENSP00000284894:G106D;ENSP00000441887:G273D	ENSP00000284894:G106D	G	+	2	0	NCAM2	21629701	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.415000	0.66411	2.487000	0.83934	0.460000	0.39030	GGC	NCAM2	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	ENSG00000154654		0.343	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAM2	HGNC	protein_coding	OTTHUMT00000170915.1	-	0.00	51	0	G	NM_004540		22707830	+1	tier1	-	no_errors	ENST00000400546	ensembl	human	known	74_37	missense	8.16	45	4	SNP	1.000	A
NCAPD3	23310	genome.wustl.edu	37	11	134074826	134074826	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr11:134074826C>T	ENST00000534548.2	-	9	1121	c.1057G>A	c.(1057-1059)Gtc>Atc	p.V353I		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	353					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)			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)		AAGATACGGACGACTGGGAAT	0.398																																																	0													144.0	143.0	143.0					11																	134074826		2201	4297	6498	SO:0001583	missense	0			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.1057G>A	11.37:g.134074826C>T	ENSP00000433681:p.Val353Ile		A6NFS2|Q4KMQ9	Missense_Mutation	SNP	superfamily_ARM-type_fold,pirsf_NCAPD3	p.V353I	ENST00000534548.2	37	c.1057	CCDS31723.1	11	.	.	.	.	.	.	.	.	.	.	C	8.910	0.958507	0.18507	.	.	ENSG00000151503	ENST00000534548	T	0.04654	3.58	5.54	4.63	0.57726	Armadillo-type fold (1);	0.062175	0.64402	D	0.000003	T	0.02929	0.0087	N	0.08118	0	0.80722	D	1	B	0.19445	0.036	B	0.06405	0.002	T	0.52305	-0.8593	10	0.33940	T	0.23	-14.2826	10.7852	0.46401	0.0712:0.134:0.7948:0.0	.	353	P42695	CNDD3_HUMAN	I	353	ENSP00000433681:V353I	ENSP00000431612:V353I	V	-	1	0	NCAPD3	133580036	1.000000	0.71417	0.851000	0.33527	0.145000	0.21501	3.481000	0.53179	1.347000	0.45714	-0.234000	0.12200	GTC	NCAPD3	-	superfamily_ARM-type_fold,pirsf_NCAPD3	ENSG00000151503		0.398	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAPD3	HGNC	protein_coding	OTTHUMT00000393575.2	-	0.00	28	0	C	NM_015261		134074826	-1	tier1	-	no_errors	ENST00000534548	ensembl	human	known	74_37	missense	11.54	23	3	SNP	0.965	T
NEB	4703	genome.wustl.edu	37	2	152534587	152534587	+	Silent	SNP	G	G	T			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr2:152534587G>T	ENST00000172853.10	-	33	3517	c.3370C>A	c.(3370-3372)Cgg>Agg	p.R1124R	NEB_ENST00000604864.1_Silent_p.R1124R|NEB_ENST00000603639.1_Silent_p.R1124R|NEB_ENST00000409198.1_Silent_p.R1124R|NEB_ENST00000397345.3_Silent_p.R1124R|NEB_ENST00000427231.2_Silent_p.R1124R			P20929	NEBU_HUMAN	nebulin	1124					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)		TTATACTCCCGATCTGATTGT	0.423																																																	0													97.0	92.0	94.0					2																	152534587		1869	4104	5973	SO:0001819	synonymous_variant	0			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.3370C>A	2.37:g.152534587G>T			F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin	p.R1124	ENST00000172853.10	37	c.3370		2																																																																																			NEB	-	pfam_Nebulin_35r-motif,superfamily_Adhesion_dom,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif	ENSG00000183091		0.423	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding			0.00	40	0	G	NM_004543		152534587	-1			no_errors	ENST00000397345	ensembl	human	known	74_37	silent	6.52	43	3	SNP	0.734	T
NEK11	79858	genome.wustl.edu	37	3	130992369	130992369	+	Missense_Mutation	SNP	C	C	G			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr3:130992369C>G	ENST00000510769.1	+	13	1607	c.1354C>G	c.(1354-1356)Cca>Gca	p.P452A	NEK11_ENST00000429253.2_Missense_Mutation_p.P557A|NEK11_ENST00000508196.1_Missense_Mutation_p.P557A|NEK11_ENST00000412440.2_Missense_Mutation_p.P373A|NEK11_ENST00000383366.4_Missense_Mutation_p.P557A|NEK11_ENST00000510688.1_Intron					NIMA-related kinase 11											breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						CCCAGGACCACCAATTTTCAA	0.473																																																	0													160.0	120.0	134.0					3																	130992369		2203	4300	6503	SO:0001583	missense	0			AK027148	CCDS3069.1, CCDS46915.1, CCDS54639.1	3q22.1	2012-11-15	2012-11-15		ENSG00000114670	ENSG00000114670			18593	protein-coding gene	gene with protein product		609779	"""NIMA (never in mitosis gene a)- related kinase 11"""				Standard	NM_024800		Approved	FLJ23495	uc003eny.3	Q8NG66	OTTHUMG00000159654	ENST00000510769.1:c.1354C>G	3.37:g.130992369C>G	ENSP00000421549:p.Pro452Ala			Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.P557A	ENST00000510769.1	37	c.1669		3	.	.	.	.	.	.	.	.	.	.	C	0	-2.628812	0.00115	.	.	ENSG00000114670	ENST00000510769;ENST00000429253;ENST00000383366;ENST00000412440;ENST00000508196	T;T;T;T;T	0.70164	-0.41;-0.2;-0.2;-0.46;-0.2	5.73	-2.88	0.05682	.	1.220510	0.06173	N	0.678139	T	0.38295	0.1035	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	0.21143	-1.0254	10	0.08837	T	0.75	.	5.7662	0.18227	0.5133:0.2335:0.2532:0.0	.	452;373;557	E9PHI8;B4DDN2;Q8NG66	.;.;NEK11_HUMAN	A	452;557;557;373;557	ENSP00000421549:P452A;ENSP00000397180:P557A;ENSP00000372857:P557A;ENSP00000411888:P373A;ENSP00000421851:P557A	ENSP00000372857:P557A	P	+	1	0	NEK11	132475059	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.748000	0.26305	-0.756000	0.04703	-1.267000	0.01435	CCA	NEK11	-	NULL	ENSG00000114670		0.473	NEK11-005	NOVEL	basic|exp_conf	protein_coding	NEK11	HGNC	protein_coding	OTTHUMT00000356757.1	-	0.00	89	0	C	NM_024800		130992369	+1	tier1	-	no_errors	ENST00000383366	ensembl	human	known	74_37	missense	30.65	43	19	SNP	0.001	G
NES	10763	genome.wustl.edu	37	1	156640094	156640094	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr1:156640094G>T	ENST00000368223.3	-	4	4018	c.3886C>A	c.(3886-3888)Cca>Aca	p.P1296T		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	1296	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)					GTGGAGTCTGGAAGGGTCTCC	0.657																																																	0													72.0	85.0	80.0					1																	156640094		2203	4300	6503	SO:0001583	missense	0			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.3886C>A	1.37:g.156640094G>T	ENSP00000357206:p.Pro1296Thr		O00552|Q3LIF5|Q5SYZ6	Missense_Mutation	SNP	pfam_IF	p.P1296T	ENST00000368223.3	37	c.3886	CCDS1151.1	1	.	.	.	.	.	.	.	.	.	.	G	11.48	1.651035	0.29336	.	.	ENSG00000132688	ENST00000368223	D	0.95724	-3.79	4.79	3.87	0.44632	.	0.000000	0.31949	N	0.006817	D	0.94135	0.8119	M	0.65498	2.005	0.09310	N	1	D	0.64830	0.994	P	0.56865	0.808	D	0.88742	0.3244	10	0.87932	D	0	.	7.1699	0.25712	0.0968:0.1715:0.7318:0.0	.	1296	P48681	NEST_HUMAN	T	1296	ENSP00000357206:P1296T	ENSP00000357206:P1296T	P	-	1	0	NES	154906718	0.970000	0.33590	0.068000	0.19968	0.287000	0.27160	4.871000	0.63042	2.207000	0.71202	0.557000	0.71058	CCA	NES	-	NULL	ENSG00000132688		0.657	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NES	HGNC	protein_coding	OTTHUMT00000082844.2	-	0.00	52	0	G	NM_006617		156640094	-1	tier1	-	no_errors	ENST00000368223	ensembl	human	known	74_37	missense	71.05	22	54	SNP	0.010	T
NPHS1	4868	genome.wustl.edu	37	19	36332627	36332627	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr19:36332627delA	ENST00000378910.5	-	20	2804	c.2805delT	c.(2803-2805)cttfs	p.L935fs	NPHS1_ENST00000353632.6_Frame_Shift_Del_p.L935fs	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	935	Ig-like C2-type 8.				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)			TGATGCTGACAAGTTGAATGT	0.587																																																	0													157.0	119.0	132.0					19																	36332627		2203	4300	6503	SO:0001589	frameshift_variant	0				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.2805delT	19.37:g.36332627delA	ENSP00000368190:p.Leu935fs		A6NDH2|C3RX61	Frame_Shift_Del	DEL	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_dom	p.V936fs	ENST00000378910.5	37	c.2805	CCDS32996.1	19																																																																																			NPHS1	-	superfamily_Fibronectin_type3,smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000161270		0.587	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPHS1	HGNC	protein_coding	OTTHUMT00000452553.1		0.00	45	0	A			36332627	-1	tier1		no_errors	ENST00000378910	ensembl	human	known	74_37	frame_shift_del	12.50	70	10	DEL	1.000	-
NTRK1	4914	genome.wustl.edu	37	1	156849819	156849819	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr1:156849819G>A	ENST00000524377.1	+	16	2116	c.2075G>A	c.(2074-2076)cGc>cAc	p.R692H	NTRK1_ENST00000392302.2_Missense_Mutation_p.R656H|NTRK1_ENST00000531606.1_3'UTR|NTRK1_ENST00000358660.3_Missense_Mutation_p.R689H|NTRK1_ENST00000368196.3_Missense_Mutation_p.R686H	NM_002529.3	NP_002520.2	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	692	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)	CTGCCCATTCGCTGGATGCCG	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													57.0	56.0	57.0					1																	156849819		2203	4300	6503	SO:0001583	missense	0			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.2075G>A	1.37:g.156849819G>A	ENSP00000431418:p.Arg692His		B2R6T5|B7ZM34|P08119|Q15655|Q15656|Q5D056|Q5VZS2|Q7Z5C3|Q9UIU7	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_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_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_neurotrophic_rcpt_1,prints_Tyr_kinase_NGF_rcpt	p.R692H	ENST00000524377.1	37	c.2075	CCDS1161.1	1	.	.	.	.	.	.	.	.	.	.	G	33	5.228754	0.95173	.	.	ENSG00000198400	ENST00000392302;ENST00000368196;ENST00000524377;ENST00000358660	D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74	4.23	4.23	0.50019	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.56097	D	0.000028	D	0.89753	0.6806	M	0.80982	2.52	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;0.995;0.968;0.995	D	0.91180	0.4975	10	0.87932	D	0	.	15.7052	0.77573	0.0:0.0:1.0:0.0	.	689;686;692;656	A8K3Z4;P04629-2;P04629;A6NF12	.;.;NTRK1_HUMAN;.	H	656;686;692;689	ENSP00000376120:R656H;ENSP00000357179:R686H;ENSP00000431418:R692H;ENSP00000351486:R689H	ENSP00000351486:R689H	R	+	2	0	NTRK1	155116443	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.239000	0.95389	2.362000	0.80069	0.561000	0.74099	CGC	NTRK1	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	ENSG00000198400		0.647	NTRK1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NTRK1	HGNC	protein_coding	OTTHUMT00000392279.1	-	0.00	60	0	G	NM_002529		156849819	+1	tier1	-	no_errors	ENST00000524377	ensembl	human	known	74_37	missense	71.15	15	37	SNP	1.000	A
OR2S2	56656	genome.wustl.edu	37	9	35957427	35957427	+	Silent	SNP	G	G	T			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr9:35957427G>T	ENST00000341959.2	-	1	724	c.669C>A	c.(667-669)atC>atA	p.I223I		NM_019897.2	NP_063950.2	Q9NQN1	OR2S1_HUMAN	olfactory receptor, family 2, subfamily S, member 2	223					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)			GGATGGTGGTGATGATGAAGA	0.512																																					Pancreas(172;293 2036 17878 24427 30946)												0													94.0	100.0	98.0					9																	35957427		2203	4300	6503	SO:0001819	synonymous_variant	0			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.669C>A	9.37:g.35957427G>T			Q2M3L0|Q6IF19|Q96R42	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I223	ENST00000341959.2	37	c.669	CCDS6596.2	9																																																																																			OR2S2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000122718		0.512	OR2S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2S2	HGNC	protein_coding	OTTHUMT00000052400.2		0.00	26	0	G	NM_019897		35957427	-1			no_errors	ENST00000341959	ensembl	human	known	74_37	silent	6.90	27	2	SNP	0.000	T
OR1Q1	158131	genome.wustl.edu	37	9	125377488	125377488	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr9:125377488C>A	ENST00000297913.2	+	1	541	c.472C>A	c.(472-474)Ctg>Atg	p.L158M	RP11-64P14.7_ENST00000431442.1_RNA	NM_012364.1	NP_036496.1	Q15612	OR1Q1_HUMAN	olfactory receptor, family 1, subfamily Q, member 1	158					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						TCATGCCATGCTGCATACCTT	0.493																																																	0													196.0	167.0	176.0					9																	125377488		2203	4300	6503	SO:0001583	missense	0				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.472C>A	9.37:g.125377488C>A	ENSP00000297913:p.Leu158Met		Q6IFN4|Q8NGR7|Q96R82	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L158M	ENST00000297913.2	37	c.472	CCDS35125.1	9	.	.	.	.	.	.	.	.	.	.	C	9.132	1.011737	0.19277	.	.	ENSG00000165202	ENST00000297913	T	0.39997	1.05	5.58	0.158	0.14942	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38897	N	0.001523	T	0.49898	0.1584	L	0.57130	1.785	0.09310	N	1	D	0.71674	0.998	D	0.74348	0.983	T	0.34104	-0.9842	10	0.66056	D	0.02	-0.2113	3.2411	0.06780	0.2925:0.366:0.0:0.3415	.	158	Q15612	OR1Q1_HUMAN	M	158	ENSP00000297913:L158M	ENSP00000297913:L158M	L	+	1	2	OR1Q1	124417309	0.000000	0.05858	0.250000	0.24296	0.082000	0.17680	-1.012000	0.03649	0.122000	0.18314	0.655000	0.94253	CTG	OR1Q1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000165202		0.493	OR1Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1Q1	HGNC	protein_coding	OTTHUMT00000053946.1		0.00	29	0	C			125377488	+1			no_errors	ENST00000297913	ensembl	human	known	74_37	missense	12.90	27	4	SNP	0.001	A
OR2T2	401992	genome.wustl.edu	37	1	248616764	248616764	+	Silent	SNP	C	C	T	rs376553658		TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr1:248616764C>T	ENST00000342927.3	+	1	688	c.666C>T	c.(664-666)atC>atT	p.I222I		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, 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)			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)			ACACGCACATCCTCCTGACTG	0.542																																																	0													182.0	125.0	144.0					1																	248616764		2186	4264	6450	SO:0001819	synonymous_variant	0			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.666C>T	1.37:g.248616764C>T			B2RNM1|B9EH01	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I222	ENST00000342927.3	37	c.666	CCDS31116.1	1																																																																																			OR2T2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000196240		0.542	OR2T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T2	HGNC	protein_coding	OTTHUMT00000097421.1	-	0.00	23	0	C	NM_001004136		248616764	+1	tier1	-	no_errors	ENST00000342927	ensembl	human	known	74_37	silent	21.43	11	3	SNP	0.001	T
OR2T3	343173	genome.wustl.edu	37	1	248637563	248637563	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr1:248637563G>T	ENST00000359594.2	+	1	937	c.912G>T	c.(910-912)agG>agT	p.R304S		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	304						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(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	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)			ATGTCACCAGGGCTCTGAGGA	0.473																																																	0													150.0	161.0	157.0					1																	248637563		2202	4295	6497	SO:0001583	missense	0				CCDS31117.1	1q44	2012-08-09			ENSG00000196539	ENSG00000196539		"""GPCR / Class A : Olfactory receptors"""	14727	protein-coding gene	gene with protein product							Standard	NM_001005495		Approved		uc001iel.1	Q8NH03	OTTHUMG00000040452	ENST00000359594.2:c.912G>T	1.37:g.248637563G>T	ENSP00000352604:p.Arg304Ser		B2RNJ1	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R304S	ENST00000359594.2	37	c.912	CCDS31117.1	1	.	.	.	.	.	.	.	.	.	.	g	8.809	0.934716	0.18206	.	.	ENSG00000196539	ENST00000359594	T	0.38401	1.14	2.37	-2.08	0.07254	.	.	.	.	.	T	0.16300	0.0392	N	0.11064	0.09	0.09310	N	1	B	0.25563	0.129	B	0.23275	0.045	T	0.20075	-1.0286	9	0.72032	D	0.01	.	3.9228	0.09251	0.1451:0.0:0.2971:0.5578	.	304	Q8NH03	OR2T3_HUMAN	S	304	ENSP00000352604:R304S	ENSP00000352604:R304S	R	+	3	2	OR2T3	246704186	0.000000	0.05858	0.001000	0.08648	0.069000	0.16628	-3.121000	0.00595	-0.308000	0.08792	0.186000	0.17326	AGG	OR2T3	-	pfam_7TM_GPCR_olfarory/Srsx	ENSG00000196539		0.473	OR2T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T3	HGNC	protein_coding	OTTHUMT00000097348.1	-	0.00	255	0	G	NM_001005495		248637563	+1	tier1	-	no_errors	ENST00000359594	ensembl	human	known	74_37	missense	35.55	164	91	SNP	0.003	T
OR4A16	81327	genome.wustl.edu	37	11	55110804	55110804	+	Missense_Mutation	SNP	T	T	C	rs202202418	byFrequency	TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr11:55110804T>C	ENST00000314721.2	+	1	178	c.128T>C	c.(127-129)aTt>aCt	p.I43T		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	43						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						AACCTCCTCATTTGGGTGACT	0.433													.|||	49	0.00978435	0.0151	0.0101	5008	,	,		21155	0.0		0.0149	False		,,,				2504	0.0072																0													122.0	115.0	118.0					11																	55110804		2201	4296	6497	SO:0001583	missense	0			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.128T>C	11.37:g.55110804T>C	ENSP00000325128:p.Ile43Thr		Q6IFL3	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I43T	ENST00000314721.2	37	c.128	CCDS31499.1	11	.	.	.	.	.	.	.	.	.	.	t	0.551	-0.849540	0.02651	.	.	ENSG00000181961	ENST00000314721	T	0.00531	6.76	2.41	1.22	0.21188	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00637	0.0021	M	0.75615	2.305	0.09310	N	1	P	0.35714	0.517	B	0.37833	0.259	T	0.40979	-0.9534	9	0.59425	D	0.04	.	5.5955	0.17325	0.0:0.1526:0.0:0.8474	.	43	Q8NH70	O4A16_HUMAN	T	43	ENSP00000325128:I43T	ENSP00000325128:I43T	I	+	2	0	OR4A16	54867380	0.089000	0.21612	0.272000	0.24630	0.028000	0.11728	2.908000	0.48750	0.180000	0.19960	0.155000	0.16302	ATT	OR4A16	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000181961		0.433	OR4A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4A16	HGNC	protein_coding	OTTHUMT00000391160.1		0.00	56	0	T	NM_001005274		55110804	+1			no_errors	ENST00000314721	ensembl	human	known	74_37	missense	5.26	54	3	SNP	0.248	C
OR56A3	390083	genome.wustl.edu	37	11	5969255	5969255	+	Nonsense_Mutation	SNP	C	C	T	rs188845678		TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr11:5969255C>T	ENST00000329564.6	+	1	686	c.679C>T	c.(679-681)Cga>Tga	p.R227*		NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	227						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R227*(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTTCATTCTGCGAGCTGTGCT	0.517													C|||	1	0.000199681	0.0	0.0	5008	,	,		22092	0.001		0.0	False		,,,				2504	0.0																1	Substitution - Nonsense(1)	lung(1)											192.0	189.0	190.0					11																	5969255		2183	4282	6465	SO:0001587	stop_gained	0				CCDS41614.1	11p15.4	2012-08-09		2004-03-10	ENSG00000184478	ENSG00000184478		"""GPCR / Class A : Olfactory receptors"""	14786	protein-coding gene	gene with protein product				OR56A6, OR56A3P			Standard	NM_001003443		Approved		uc010qzt.2	Q8NH54	OTTHUMG00000165373	ENST00000329564.6:c.679C>T	11.37:g.5969255C>T	ENSP00000331572:p.Arg227*		A6NN77|Q6IFF7	Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R227*	ENST00000329564.6	37	c.679	CCDS41614.1	11	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	4.135	0.023296	0.08006	.	.	ENSG00000184478	ENST00000329564	.	.	.	5.13	-8.28	0.01013	.	0.149992	0.30762	N	0.008933	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.0633	22.6536	0.99974	0.7951:0.2048:0.0:0.0	.	.	.	.	X	227	.	ENSP00000331572:R227X	R	+	1	2	OR56A3	5925831	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-8.223000	0.00023	-1.903000	0.01093	-2.727000	0.00130	CGA	OR56A3	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000184478		0.517	OR56A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	OR56A3	HGNC	protein_coding	OTTHUMT00000383753.1		0.00	45	0	C	NM_001003443		5969255	+1			no_errors	ENST00000329564	ensembl	human	known	74_37	nonsense	5.41	35	2	SNP	0.000	T
OR4P4	81300	genome.wustl.edu	37	11	55406658	55406658	+	Silent	SNP	C	C	A			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr11:55406658C>A	ENST00000314612.2	+	1	825	c.825C>A	c.(823-825)atC>atA	p.I275I		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	275						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)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						TTTATACCATCATTGCTCCCA	0.398																																																	0													162.0	139.0	147.0					11																	55406658		2178	4024	6202	SO:0001819	synonymous_variant	0			AB065775	CCDS31504.1	11q11	2012-08-09			ENSG00000181927	ENSG00000181927		"""GPCR / Class A : Olfactory receptors"""	15180	protein-coding gene	gene with protein product				OR4P3P			Standard	NM_001004124		Approved		uc010rij.2	Q8NGL7	OTTHUMG00000165300	ENST00000314612.2:c.825C>A	11.37:g.55406658C>A				Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I275	ENST00000314612.2	37	c.825	CCDS31504.1	11																																																																																			OR4P4	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000181927		0.398	OR4P4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4P4	HGNC	protein_coding	OTTHUMT00000383356.1	-	0.00	37	0	C	NM_001004124		55406658	+1	tier1	-	no_errors	ENST00000314612	ensembl	human	known	74_37	silent	25.58	32	11	SNP	0.009	A
PALM2	114299	genome.wustl.edu	37	9	112694236	112694236	+	Intron	SNP	C	C	T			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr9:112694236C>T	ENST00000374531.2	+	6	474				PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.P142S|PALM2_ENST00000448454.2_Missense_Mutation_p.P144S|PALM2-AKAP2_ENST00000374530.3_Missense_Mutation_p.P142S|PALM2_ENST00000314527.4_Missense_Mutation_p.P142S|AKAP2_ENST00000555236.1_Missense_Mutation_p.P142S|PALM2_ENST00000483909.1_Intron|AKAP2_ENST00000510514.5_Missense_Mutation_p.P142S	NM_001037293.2	NP_001032370.1	Q8IXS6	PALM2_HUMAN	paralemmin 2						regulation of cell shape (GO:0008360)	plasma membrane (GO:0005886)				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	18						CTCCCAGCTTCCCGACCTGCC	0.547																																																	0													149.0	145.0	147.0					9																	112694236		2203	4300	6503	SO:0001627	intron_variant	0			AJ312216	CCDS35099.1, CCDS48002.1, CCDS48002.2	9q31.3	2009-10-16			ENSG00000243444	ENSG00000243444			15845	protein-coding gene	gene with protein product						11478809	Standard	NM_001037293		Approved			Q8IXS6	OTTHUMG00000020479	ENST00000374531.2:c.400+6874C>T	9.37:g.112694236C>T			A9Z1X9|Q8N9D5|Q96DU1	Missense_Mutation	SNP	pfam_Paralemmin,pfam_RII_binding_1	p.P142S	ENST00000374531.2	37	c.424	CCDS35099.1	9	.	.	.	.	.	.	.	.	.	.	C	18.04	3.534417	0.64972	.	.	ENSG00000243444;ENSG00000243444;ENSG00000243444;ENSG00000157654;ENSG00000157654;ENSG00000157654;ENSG00000241978;ENSG00000241978	ENST00000448454;ENST00000314527;ENST00000497711;ENST00000374530;ENST00000413420;ENST00000302798;ENST00000555236;ENST00000510514	T;T;T;T;T;T;T;T	0.35421	2.35;2.35;1.31;1.93;2.35;1.94;1.93;1.94	6.17	5.27	0.74061	.	0.113193	0.35179	N	0.003382	T	0.33089	0.0851	L	0.36672	1.1	0.34909	D	0.747334	B;B;B	0.24426	0.103;0.103;0.001	B;B;B	0.26202	0.067;0.067;0.008	T	0.44314	-0.9336	10	0.87932	D	0	-13.1088	15.1224	0.72453	0.0:0.932:0.0:0.068	.	142;142;144	Q9Y2D5-6;Q9Y2D5-4;D3YTA4	.;.;.	S	144;142;128;142;142;142;142;142	ENSP00000400206:P144S;ENSP00000323805:P142S;ENSP00000419747:P128S;ENSP00000363654:P142S;ENSP00000397839:P142S;ENSP00000305861:P142S;ENSP00000451476:P142S;ENSP00000421522:P142S	ENSP00000305861:P142S	P	+	1	0	PALM2-AKAP2;PALM2;AKAP2	111734057	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.574000	0.53863	1.596000	0.50062	0.655000	0.94253	CCC	PALM2-AKAP2	-	NULL	ENSG00000157654		0.547	PALM2-002	KNOWN	basic|CCDS	protein_coding	PALM2-AKAP2	HGNC	protein_coding	OTTHUMT00000053604.1	-	0.00	38	0	C	NM_001037293		112694236	+1	tier1	-	no_errors	ENST00000374530	ensembl	human	known	74_37	missense	53.12	15	17	SNP	1.000	T
PAPD7	11044	genome.wustl.edu	37	5	6755013	6755014	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	AC	AC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr5:6755013_6755014delAC	ENST00000230859.6	+	13	1713_1714	c.1584_1585delAC	c.(1582-1587)aaacacfs	p.H529fs		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	759					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						GGAGGAAAAAACACACACACAC	0.653																																					NSCLC(7;212 333 5667 23379 46547)												0																																										SO:0001589	frameshift_variant	0			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.1584_1585delAC	5.37:g.6755023_6755024delAC	ENSP00000230859:p.His529fs		A8K1E2|M1JCE6|O43289|Q17RZ1|Q9Y6C1	Frame_Shift_Del	DEL	pfam_PAP_assoc,pfam_Nucleotidyltransferase	p.T532fs	ENST00000230859.6	37	c.1584_1585	CCDS3871.1	5																																																																																			PAPD7	-	NULL	ENSG00000112941		0.653	PAPD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPD7	HGNC	protein_coding	OTTHUMT00000206904.1		0.00	37	0	AC	NM_006999		6755014	+1	tier1		no_errors	ENST00000230859	ensembl	human	known	74_37	frame_shift_del	7.69	24	2	DEL	1.000:1.000	-
PCDH18	54510	genome.wustl.edu	37	4	138451019	138451019	+	Missense_Mutation	SNP	T	T	A			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr4:138451019T>A	ENST00000344876.4	-	1	2610	c.2224A>T	c.(2224-2226)Act>Tct	p.T742S	PCDH18_ENST00000507846.1_Missense_Mutation_p.T522S|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000412923.2_Missense_Mutation_p.T742S|PCDH18_ENST00000510305.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	742					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)					TGCTGGTAAGTTGATTCGGCC	0.473																																																	0													201.0	168.0	179.0					4																	138451019		2203	4300	6503	SO:0001583	missense	0			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.2224A>T	4.37:g.138451019T>A	ENSP00000355082:p.Thr742Ser		A8K7K3|B7ZKT1|Q52LS2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.T742S	ENST00000344876.4	37	c.2224	CCDS34064.1	4	.	.	.	.	.	.	.	.	.	.	T	6.038	0.375447	0.11409	.	.	ENSG00000189184	ENST00000344876;ENST00000412923;ENST00000507846	T;T;T	0.50001	0.84;0.86;0.76	5.53	5.53	0.82687	.	0.000000	0.44688	D	0.000440	T	0.32556	0.0833	N	0.20881	0.62	0.80722	D	1	B;B;B	0.25955	0.087;0.138;0.087	B;B;B	0.28139	0.033;0.086;0.033	T	0.13791	-1.0496	10	0.02654	T	1	.	15.8331	0.78773	0.0:0.0:0.0:1.0	.	522;742;742	D6RIG4;Q9HCL0-2;Q9HCL0	.;.;PCD18_HUMAN	S	742;742;522	ENSP00000355082:T742S;ENSP00000390688:T742S;ENSP00000425903:T522S	ENSP00000355082:T742S	T	-	1	0	PCDH18	138670469	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	7.473000	0.81007	2.315000	0.78130	0.533000	0.62120	ACT	PCDH18	-	NULL	ENSG00000189184		0.473	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH18	HGNC	protein_coding	OTTHUMT00000364614.1	-	0.00	45	0	T	NM_019035		138451019	-1	tier1	-	no_errors	ENST00000344876	ensembl	human	known	74_37	missense	25.00	24	8	SNP	0.994	A
PCDHB3	56132	genome.wustl.edu	37	5	140482041	140482041	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr5:140482041C>T	ENST00000231130.2	+	1	1808	c.1808C>T	c.(1807-1809)tCg>tTg	p.S603L	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	603	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)			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)			GCCTGGCTGTCGTACCAGCTG	0.731																																																	0													11.0	12.0	12.0					5																	140482041		1519	3216	4735	SO:0001583	missense	0			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.1808C>T	5.37:g.140482041C>T	ENSP00000231130:p.Ser603Leu		B2R8P2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S603L	ENST00000231130.2	37	c.1808	CCDS4245.1	5	.	.	.	.	.	.	.	.	.	.	C	22.0	4.227534	0.79576	.	.	ENSG00000113205	ENST00000231130	T	0.54071	0.59	4.23	4.23	0.50019	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.72946	0.3524	M	0.77406	2.37	0.42041	D	0.991071	D	0.89917	1.0	D	0.77557	0.99	T	0.78942	-0.2005	9	0.87932	D	0	.	16.6363	0.85060	0.0:1.0:0.0:0.0	.	603	Q9Y5E6	PCDB3_HUMAN	L	603	ENSP00000231130:S603L	ENSP00000231130:S603L	S	+	2	0	PCDHB3	140462225	0.987000	0.35691	0.974000	0.42286	0.978000	0.69477	3.469000	0.53093	2.065000	0.61736	0.556000	0.70494	TCG	PCDHB3	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000113205		0.731	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB3	HGNC	protein_coding	OTTHUMT00000251817.2	-	0.00	192	0	C	NM_018937		140482041	+1	tier1	-	no_errors	ENST00000231130	ensembl	human	known	74_37	missense	56.59	88	116	SNP	1.000	T
PCDHB8	56128	genome.wustl.edu	37	5	140558872	140558872	+	Silent	SNP	C	C	T			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr5:140558872C>T	ENST00000239444.2	+	1	1502	c.1257C>T	c.(1255-1257)aaC>aaT	p.N419N	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	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(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)			CCGAGTACAACGTCACTATCA	0.512																																																	0													166.0	200.0	188.0					5																	140558872		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1257C>T	5.37:g.140558872C>T			B9EGV1	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.N419	ENST00000239444.2	37	c.1257	CCDS4250.1	5																																																																																			PCDHB8	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000120322		0.512	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB8	HGNC	protein_coding	OTTHUMT00000251816.2	-	0.00	366	0	C	NM_019120		140558872	+1	tier1	-	no_errors	ENST00000239444	ensembl	human	known	74_37	silent	20.23	271	69	SNP	0.060	T
PDLIM5	10611	genome.wustl.edu	37	4	95578595	95578595	+	Silent	SNP	G	G	A			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr4:95578595G>A	ENST00000317968.4	+	11	1618	c.1482G>A	c.(1480-1482)ttG>ttA	p.L494L	PDLIM5_ENST00000437932.1_Silent_p.L385L|PDLIM5_ENST00000514743.1_Silent_p.L523L|PDLIM5_ENST00000380176.3_3'UTR|PDLIM5_ENST00000542407.1_Silent_p.L372L	NM_001256428.1|NM_006457.4	NP_001243357.1|NP_006448	Q96HC4	PDLI5_HUMAN	PDZ and LIM domain 5	494	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				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)		TCAGTGCGTTGAAACAAACTT	0.368																																																	0													168.0	148.0	155.0					4																	95578595		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1482G>A	4.37:g.95578595G>A			A8K6F9|D6RB78|E9PBF5|O60705|Q56VN4|Q5UW38|Q8WVK0	Silent	SNP	pfam_Znf_LIM,pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ	p.L494	ENST00000317968.4	37	c.1482	CCDS3641.1	4																																																																																			PDLIM5	-	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	ENSG00000163110		0.368	PDLIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDLIM5	HGNC	protein_coding	OTTHUMT00000253586.1	-	0.00	64	0	G			95578595	+1	tier1	-	no_errors	ENST00000317968	ensembl	human	known	74_37	silent	38.00	31	19	SNP	1.000	A
PGLYRP2	114770	genome.wustl.edu	37	19	15580205	15580205	+	Intron	SNP	G	G	T			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr19:15580205G>T	ENST00000340880.4	-	4	2122				PGLYRP2_ENST00000292609.4_Missense_Mutation_p.P627T	NM_052890.3	NP_443122.3	Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2						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						GGACAGGCTGGCTGGGTCTGG	0.597																																																	0													55.0	64.0	62.0					19																	15580205		692	1591	2283	SO:0001627	intron_variant	0			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.1641+237C>A	19.37:g.15580205G>T			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.P627T	ENST00000340880.4	37	c.1879	CCDS12330.2	19	.	.	.	.	.	.	.	.	.	.	G	14.51	2.557879	0.45590	.	.	ENSG00000161031	ENST00000292609	T	0.05199	3.48	3.79	0.0702	0.14377	.	1.195850	0.06530	N	0.741188	T	0.04952	0.0133	.	.	.	0.09310	N	1	B	0.28998	0.23	B	0.24269	0.052	T	0.42749	-0.9433	9	0.87932	D	0	-16.0059	3.2351	0.06762	0.2469:0.0:0.5498:0.2033	.	627	Q96PD5-2	.	T	627	ENSP00000292609:P627T	ENSP00000292609:P627T	P	-	1	0	PGLYRP2	15441205	0.003000	0.15002	0.005000	0.12908	0.045000	0.14185	0.493000	0.22451	0.092000	0.17331	0.467000	0.42956	CCA	PGLYRP2	-	NULL	ENSG00000161031		0.597	PGLYRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGLYRP2	HGNC	protein_coding	OTTHUMT00000319626.1	-	0.00	92	0	G	NM_052890		15580205	-1	tier1	-	no_errors	ENST00000292609	ensembl	human	known	74_37	missense	5.41	70	4	SNP	0.001	T
JADE3	9767	genome.wustl.edu	37	X	46887436	46887436	+	Silent	SNP	C	C	T			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chrX:46887436C>T	ENST00000218343.4	+	6	916	c.618C>T	c.(616-618)tgC>tgT	p.C206C	PHF16_ENST00000397189.1_Silent_p.C206C	NM_014735.3	NP_055550.1														NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						GTGATGTGTGCCGGTCTCCAG	0.463																																																	0													358.0	229.0	273.0					X																	46887436		2203	4300	6503	SO:0001819	synonymous_variant	0																														ENST00000218343.4:c.618C>T	X.37:g.46887436C>T				Silent	SNP	pfam_Enhancer_polycomb-like_N,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.C206	ENST00000218343.4	37	c.618	CCDS14271.1	X																																																																																			PHF16	-	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	ENSG00000102221		0.463	PHF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF16	HGNC	protein_coding	OTTHUMT00000056376.1		0.00	55	0	C			46887436	+1			no_errors	ENST00000218343	ensembl	human	known	74_37	silent	6.12	46	3	SNP	1.000	T
PHF8	23133	genome.wustl.edu	37	X	54069146	54069146	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chrX:54069146C>T	ENST00000357988.5	-	2	482	c.124G>A	c.(124-126)Gtg>Atg	p.V42M	PHF8_ENST00000322659.8_Missense_Mutation_p.V6M|PHF8_ENST00000338946.6_Missense_Mutation_p.V6M|PHF8_ENST00000338154.6_Missense_Mutation_p.V6M|PHF8_ENST00000462182.1_5'UTR	NM_001184896.1	NP_001171825.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	42					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						AGGCAATACACCGGCACCGAG	0.647											OREG0019805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													86.0	55.0	66.0					X																	54069146		2202	4300	6502	SO:0001583	missense	0			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.124G>A	X.37:g.54069146C>T	ENSP00000350676:p.Val42Met	997	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.V42M	ENST00000357988.5	37	c.124	CCDS55420.1	X	.	.	.	.	.	.	.	.	.	.	C	25.8	4.670970	0.88348	.	.	ENSG00000172943	ENST00000357988;ENST00000338154;ENST00000338946;ENST00000396277;ENST00000322659;ENST00000425862;ENST00000437224;ENST00000415025;ENST00000453905;ENST00000445025;ENST00000433120	T;T;T;T;T;T;T;T;T;T	0.13538	2.58;2.58;2.58;2.58;2.58;2.58;2.58;2.58;2.58;2.58	5.14	5.14	0.70334	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.059637	0.64402	D	0.000003	T	0.16171	0.0389	N	0.08118	0	0.44798	D	0.997802	P;D	0.67145	0.638;0.996	B;P	0.56960	0.159;0.81	T	0.20306	-1.0279	10	0.72032	D	0.01	-7.6339	16.6169	0.84918	0.0:1.0:0.0:0.0	.	6;42	B7Z911;Q9UPP1	.;PHF8_HUMAN	M	42;6;6;36;6;6;6;6;42;6;6	ENSP00000350676:V42M;ENSP00000338868:V6M;ENSP00000340051:V6M;ENSP00000319473:V6M;ENSP00000408113:V6M;ENSP00000398995:V6M;ENSP00000404117:V6M;ENSP00000405897:V42M;ENSP00000416546:V6M;ENSP00000410100:V6M	ENSP00000319473:V6M	V	-	1	0	PHF8	54085871	1.000000	0.71417	0.904000	0.35570	0.841000	0.47740	5.578000	0.67450	2.269000	0.75478	0.600000	0.82982	GTG	PHF8	-	superfamily_Znf_FYVE_PHD,pfscan_Znf_PHD-finger	ENSG00000172943		0.647	PHF8-001	KNOWN	basic|CCDS	protein_coding	PHF8	HGNC	protein_coding	OTTHUMT00000056784.2	-	0.00	37	0	C	NM_015107		54069146	-1	tier1	-	no_errors	ENST00000357988	ensembl	human	known	74_37	missense	5.06	75	4	SNP	0.997	T
PID1	55022	genome.wustl.edu	37	2	229890700	229890700	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr2:229890700G>A	ENST00000354069.6	-	3	431	c.401C>T	c.(400-402)gCc>gTc	p.A134V	PID1_ENST00000392054.3_Missense_Mutation_p.A132V|PID1_ENST00000409462.1_Missense_Mutation_p.A52V|PID1_ENST00000392055.3_Missense_Mutation_p.A101V|PID1_ENST00000482518.2_Intron			Q7Z2X4	PCLI1_HUMAN	phosphotyrosine interaction domain containing 1	134	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)		TTCCAGGAGGGCATTGGCCGG	0.562																																																	0													95.0	91.0	93.0					2																	229890700		2203	4300	6503	SO:0001583	missense	0			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.401C>T	2.37:g.229890700G>A	ENSP00000283937:p.Ala134Val		B3KU82|Q68CJ2|Q6ZUS3|Q8IXL0|Q9NWP6	Missense_Mutation	SNP	pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom	p.A134V	ENST00000354069.6	37	c.401		2	.	.	.	.	.	.	.	.	.	.	G	8.159	0.789060	0.16258	.	.	ENSG00000153823	ENST00000392054;ENST00000409462;ENST00000392055;ENST00000542363;ENST00000354069	.	.	.	5.3	4.43	0.53597	Pleckstrin homology-type (1);	0.157221	0.56097	N	0.000028	T	0.34861	0.0912	N	0.25647	0.755	0.54753	D	0.999983	P;P;B;B	0.40578	0.722;0.476;0.006;0.026	B;B;B;B	0.32211	0.142;0.086;0.009;0.025	T	0.12785	-1.0534	8	.	.	.	-19.0792	13.3491	0.60591	0.0766:0.0:0.9234:0.0	.	52;101;132;134	Q7Z2X4-3;Q7Z2X4-4;Q7Z2X4-2;Q7Z2X4	.;.;.;PCLI1_HUMAN	V	132;52;101;134;134	.	.	A	-	2	0	PID1	229598944	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.375000	0.79646	1.373000	0.46208	0.655000	0.94253	GCC	PID1	-	smart_PTB/PI_dom	ENSG00000153823		0.562	PID1-005	KNOWN	basic	protein_coding	PID1	HGNC	protein_coding	OTTHUMT00000331810.2	-	0.00	63	0	G	NM_017933		229890700	-1	tier1	-	no_errors	ENST00000354069	ensembl	human	known	74_37	missense	6.15	61	4	SNP	1.000	A
PIK3CG	5294	genome.wustl.edu	37	7	106509583	106509583	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr7:106509583C>T	ENST00000359195.3	+	2	1887	c.1577C>T	c.(1576-1578)cCg>cTg	p.P526L	PIK3CG_ENST00000496166.1_Missense_Mutation_p.P526L|PIK3CG_ENST00000440650.2_Missense_Mutation_p.P526L	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	526					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						TACTGCCACCCGATAGCCCTG	0.532																																																	0													137.0	127.0	131.0					7																	106509583		2203	4300	6503	SO:0001583	missense	0				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.1577C>T	7.37:g.106509583C>T	ENSP00000352121:p.Pro526Leu		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_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.P526L	ENST00000359195.3	37	c.1577	CCDS5739.1	7	.	.	.	.	.	.	.	.	.	.	C	23.1	4.372598	0.82573	.	.	ENSG00000105851	ENST00000440650;ENST00000496166;ENST00000359195	T;T;T	0.65732	-0.17;-0.17;-0.17	6.02	6.02	0.97574	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.72471	0.3464	L	0.36672	1.1	0.80722	D	1	D	0.76494	0.999	D	0.64410	0.925	T	0.72030	-0.4413	10	0.59425	D	0.04	-19.9509	20.5407	0.99260	0.0:1.0:0.0:0.0	.	526	P48736	PK3CG_HUMAN	L	526	ENSP00000392258:P526L;ENSP00000419260:P526L;ENSP00000352121:P526L	ENSP00000352121:P526L	P	+	2	0	PIK3CG	106296819	1.000000	0.71417	0.985000	0.45067	0.992000	0.81027	7.770000	0.85390	2.865000	0.98341	0.655000	0.94253	CCG	PIK3CG	-	superfamily_ARM-type_fold	ENSG00000105851		0.532	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PIK3CG	HGNC	protein_coding	OTTHUMT00000349294.1	-	0.00	37	0	C			106509583	+1	tier1	-	no_errors	ENST00000359195	ensembl	human	known	74_37	missense	21.43	33	9	SNP	1.000	T
PLAC8	51316	genome.wustl.edu	37	4	84026109	84026109	+	Missense_Mutation	SNP	G	G	C			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr4:84026109G>C	ENST00000509973.1	-	2	135	c.12C>G	c.(10-12)tgC>tgG	p.C4W	PLAC8_ENST00000515389.1_Intron|PLAC8_ENST00000311507.4_Missense_Mutation_p.C61W|PLAC8_ENST00000505406.1_Missense_Mutation_p.C61W|PLAC8_ENST00000411416.2_Missense_Mutation_p.C61W|PLAC8_ENST00000426923.2_Missense_Mutation_p.C61W			Q9UHV8	PP13_HUMAN	placenta-specific 8	0					apoptotic process (GO:0006915)|phospholipid metabolic process (GO:0006644)		carbohydrate binding (GO:0030246)|lysophospholipase activity (GO:0004622)			large_intestine(2)|lung(3)|ovary(1)	6		Hepatocellular(203;0.114)				CACACAGACAGCATTCATTCA	0.483																																																	0													114.0	100.0	105.0					4																	84026109		2203	4300	6503	SO:0001583	missense	0			AF208846	CCDS3601.1	4q21.22	2006-05-20			ENSG00000145287	ENSG00000145287			19254	protein-coding gene	gene with protein product		607515				12758124, 12384430	Standard	NM_016619		Approved	onzin, C15	uc003hoe.3	Q9NZF1	OTTHUMG00000130294	ENST00000509973.1:c.12C>G	4.37:g.84026109G>C	ENSP00000423459:p.Cys4Trp		C5HZ15	Missense_Mutation	SNP	pfam_Uncharacterised_Cys-rich,tigrfam_Uncharacterised_Cys-rich	p.C61W	ENST00000509973.1	37	c.183		4	.	.	.	.	.	.	.	.	.	.	G	13.29	2.192227	0.38707	.	.	ENSG00000145287	ENST00000311507;ENST00000411416;ENST00000509973;ENST00000505406;ENST00000426923	.	.	.	5.59	3.85	0.44370	.	0.000000	0.85682	D	0.000000	D	0.86188	0.5873	H	0.97440	4.005	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.87086	0.2169	9	0.62326	D	0.03	-27.9189	9.2581	0.37595	0.1725:0.0:0.8275:0.0	.	61	Q9NZF1	PLAC8_HUMAN	W	61;61;4;61;61	.	ENSP00000309509:C61W	C	-	3	2	PLAC8	84245133	1.000000	0.71417	1.000000	0.80357	0.248000	0.25809	3.484000	0.53201	0.818000	0.34468	0.561000	0.74099	TGC	PLAC8	-	pfam_Uncharacterised_Cys-rich,tigrfam_Uncharacterised_Cys-rich	ENSG00000145287		0.483	PLAC8-003	PUTATIVE	basic|exp_conf	protein_coding	PLAC8	HGNC	protein_coding	OTTHUMT00000363078.1		0.00	48	0	G	NM_016619		84026109	-1			no_errors	ENST00000311507	ensembl	human	known	74_37	missense	6.12	46	3	SNP	1.000	C
PLAGL1	5325	genome.wustl.edu	37	6	144263369	144263369	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr6:144263369C>T	ENST00000360537.2	-	5	2497	c.584G>A	c.(583-585)cGc>cAc	p.R195H	PLAGL1_ENST00000437412.1_Missense_Mutation_p.R143H|PLAGL1_ENST00000444202.1_Missense_Mutation_p.R195H|PLAGL1_ENST00000354765.2_Missense_Mutation_p.R195H|PLAGL1_ENST00000367571.1_Missense_Mutation_p.R195H|PLAGL1_ENST00000392307.1_Missense_Mutation_p.R143H|PLAGL1_ENST00000429150.1_Missense_Mutation_p.R195H|PLAGL1_ENST00000367572.1_Missense_Mutation_p.R143H|PLAGL1_ENST00000416623.1_Missense_Mutation_p.R195H|PLAGL1_ENST00000392309.1_Missense_Mutation_p.R195H			Q9UM63	PLAL1_HUMAN	pleiomorphic adenoma gene-like 1	195					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)	p.R195H(1)		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)		GTGATCCTTGCGCCCAAATCT	0.562											OREG0017707	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)											95.0	85.0	89.0					6																	144263369		2203	4300	6503	SO:0001583	missense	0			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.584G>A	6.37:g.144263369C>T	ENSP00000353734:p.Arg195His	1685	B2RBA4|B2RCM8|E1P595|E1P597|O76019|Q7Z3V8|Q92981|Q96JR9|Q9UIZ0	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R195H	ENST00000360537.2	37	c.584	CCDS5202.1	6	.	.	.	.	.	.	.	.	.	.	C	28.1	4.890367	0.91889	.	.	ENSG00000118495	ENST00000360537;ENST00000354765;ENST00000444202;ENST00000429150;ENST00000392309;ENST00000416623;ENST00000437412;ENST00000392307;ENST00000367572;ENST00000367571;ENST00000417959	T;T;T;T;T;T;T;T;T;T;T	0.61040	0.14;0.14;0.14;0.14;0.14;0.14;0.14;0.14;0.14;0.14;0.14	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	0.64402	D	0.000006	T	0.62307	0.2417	L	0.38733	1.17	0.53688	D	0.999979	D	0.67145	0.996	D	0.65573	0.936	T	0.65372	-0.6184	10	0.87932	D	0	-50.0108	18.9562	0.92659	0.0:1.0:0.0:0.0	.	195	Q9UM63	PLAL1_HUMAN	H	195;195;195;195;195;195;143;143;143;195;143	ENSP00000353734:R195H;ENSP00000346810:R195H;ENSP00000400929:R195H;ENSP00000398409:R195H;ENSP00000376125:R195H;ENSP00000400060:R195H;ENSP00000392418:R143H;ENSP00000376124:R143H;ENSP00000356544:R143H;ENSP00000356543:R195H;ENSP00000395960:R143H	ENSP00000346810:R195H	R	-	2	0	PLAGL1	144305062	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	7.768000	0.85345	2.710000	0.92621	0.655000	0.94253	CGC	PLAGL1	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000118495		0.562	PLAGL1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	PLAGL1	HGNC	protein_coding	OTTHUMT00000042541.1		0.00	44	0	C			144263369	-1			no_errors	ENST00000354765	ensembl	human	known	74_37	missense	5.71	33	2	SNP	1.000	T
PLCB2	5330	genome.wustl.edu	37	15	40594185	40594185	+	Silent	SNP	G	G	A			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr15:40594185G>A	ENST00000260402.3	-	7	804	c.555C>T	c.(553-555)ctC>ctT	p.L185L	PLCB2_ENST00000543785.2_Silent_p.L185L|PLCB2-AS1_ENST00000559520.1_RNA|PLCB2_ENST00000456256.2_Silent_p.L185L|PLCB2_ENST00000557821.1_Silent_p.L185L	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	185					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)		GGCAGGCACTGAGAGCAGCTT	0.567																																																	0													46.0	50.0	49.0					15																	40594185		2018	4186	6204	SO:0001819	synonymous_variant	0				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.555C>T	15.37:g.40594185G>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_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y	p.L185	ENST00000260402.3	37	c.555	CCDS42020.1	15																																																																																			PLCB2	-	pirsf_PLC-beta	ENSG00000137841		0.567	PLCB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCB2	HGNC	protein_coding	OTTHUMT00000418430.1	-	0.00	59	0	G			40594185	-1	tier1	-	no_errors	ENST00000260402	ensembl	human	known	74_37	silent	29.73	26	11	SNP	0.988	A
PLXNA1	5361	genome.wustl.edu	37	3	126749110	126749110	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr3:126749110G>A	ENST00000393409.2	+	28	5086	c.5086G>A	c.(5086-5088)Gac>Aac	p.D1696N	PLXNA1_ENST00000251772.4_Missense_Mutation_p.D1673N	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1696					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)		GTTTGTGGACGACCTGTTTGA	0.627																																																	0													106.0	99.0	102.0					3																	126749110		2203	4300	6503	SO:0001583	missense	0			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.5086G>A	3.37:g.126749110G>A	ENSP00000377061:p.Asp1696Asn			Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.D1696N	ENST00000393409.2	37	c.5086	CCDS33847.2	3	.	.	.	.	.	.	.	.	.	.	G	21.9	4.219630	0.79464	.	.	ENSG00000114554	ENST00000393409;ENST00000251772	T;T	0.15834	2.39;2.39	3.39	3.39	0.38822	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.071405	0.52532	D	0.000063	T	0.34106	0.0886	L	0.54908	1.71	0.80722	D	1	P;D	0.76494	0.57;0.999	B;D	0.64776	0.258;0.929	T	0.16837	-1.0389	10	0.54805	T	0.06	.	15.2982	0.73925	0.0:0.0:1.0:0.0	.	310;1696	Q6ZTY7;Q9UIW2	.;PLXA1_HUMAN	N	1696;1673	ENSP00000377061:D1696N;ENSP00000251772:D1673N	ENSP00000251772:D1673N	D	+	1	0	PLXNA1	128231800	1.000000	0.71417	0.999000	0.59377	0.492000	0.33523	9.411000	0.97342	1.885000	0.54596	0.313000	0.20887	GAC	PLXNA1	-	pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot	ENSG00000114554		0.627	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA1	HGNC	protein_coding	OTTHUMT00000356451.1	-	0.00	40	0	G	NM_032242		126749110	+1	tier1	-	no_errors	ENST00000393409	ensembl	human	known	74_37	missense	31.58	13	6	SNP	1.000	A
CDH12	1010	genome.wustl.edu	37	5	22142664	22142664	+	Intron	SNP	A	A	C			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr5:22142664A>C	ENST00000382254.1	-	5	901				PMCHL1_ENST00000418902.1_RNA|CDH12_ENST00000522262.1_Intron|RP11-855C21.1_ENST00000524042.1_RNA|CDH12_ENST00000504376.2_Intron	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						ACTCAGCTAAATTTCCTGTAG	0.378										HNSCC(59;0.17)																																							0																																										SO:0001627	intron_variant	0			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.186-63693T>G	5.37:g.22142664A>C			B2RBT1|B7Z2U6|Q86UD2	RNA	SNP	-	NULL	ENST00000382254.1	37	NULL	CCDS3890.1	5																																																																																			PMCHL1	-	-	ENSG00000168967		0.378	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PMCHL1	HGNC	protein_coding	OTTHUMT00000207139.1	-	0.00	62	0	A	NM_004061		22142664	+1	tier1	-	no_errors	ENST00000418902	ensembl	human	known	74_37	rna	25.61	61	21	SNP	0.984	C
PNPLA5	150379	genome.wustl.edu	37	22	44285693	44285694	+	Frame_Shift_Ins	INS	-	-	T	rs140099101	byFrequency	TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr22:44285693_44285694insT	ENST00000597664.1	-	3	606_607	c.477_478insA	c.(475-480)cccgagfs	p.E160fs	PNPLA5_ENST00000593866.1_Intron|PNPLA5_ENST00000216177.4_Frame_Shift_Ins_p.E160fs|PNPLA5_ENST00000381198.2_Intron			Q7Z6Z6	PLPL5_HUMAN	patatin-like phospholipase domain containing 5	160	Patatin.				lipid catabolic process (GO:0016042)		hydrolase activity (GO:0016787)	p.E160fs*47(1)		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)				CCTCTGAACTCGGGGGGGATCA	0.574																																																	1	Insertion - Frameshift(1)	ovary(1)																																								SO:0001589	frameshift_variant	0			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.477_478insA	22.37:g.44285693_44285694insT	ENSP00000471069:p.Glu160fs		B1AHL8|B3KPR1|Q6ZST0	Frame_Shift_Ins	INS	pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase	p.E159fs	ENST00000597664.1	37	c.478_477		22																																																																																			PNPLA5	-	pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase	ENSG00000100341		0.574	PNPLA5-001	KNOWN	basic|appris_principal	protein_coding	PNPLA5	HGNC	protein_coding	OTTHUMT00000075667.4		0.00	33	0	-	NM_138814		44285694	-1	tier1		no_errors	ENST00000216177	ensembl	human	known	74_37	frame_shift_ins	11.76	15	2	INS	0.000:0.000	T
PRDM15	63977	genome.wustl.edu	37	21	43256297	43256297	+	Nonsense_Mutation	SNP	G	G	T	rs377336502		TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr21:43256297G>T	ENST00000269844.3	-	17	2411	c.2301C>A	c.(2299-2301)tgC>tgA	p.C767*	PRDM15_ENST00000538201.1_Nonsense_Mutation_p.C401*|PRDM15_ENST00000398548.1_Nonsense_Mutation_p.C438*|PRDM15_ENST00000422911.1_Nonsense_Mutation_p.C438*|PRDM15_ENST00000447207.2_Nonsense_Mutation_p.C401*	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15	767					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						CACACTCTTCGCACTTAAACA	0.512																																																	0													215.0	168.0	184.0					21																	43256297		2203	4300	6503	SO:0001587	stop_gained	0			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.2301C>A	21.37:g.43256297G>T	ENSP00000269844:p.Cys767*		E9PDJ6|E9PF37|E9PGL3|Q4W8S0|Q4W8S3|Q4W8S4|Q4W8S5|Q8N0X3|Q8NEX0|Q9NQV3	Nonsense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2	p.C767*	ENST00000269844.3	37	c.2301	CCDS13676.1	21	.	.	.	.	.	.	.	.	.	.	g	40	8.487641	0.98832	.	.	ENSG00000141956	ENST00000422911;ENST00000398548;ENST00000538201;ENST00000447207;ENST00000269844;ENST00000380489	.	.	.	4.76	-4.31	0.03698	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.9271	12.266	0.54679	0.4605:0.0:0.5395:0.0	.	.	.	.	X	438;438;401;401;767;401	.	ENSP00000269844:C767X	C	-	3	2	PRDM15	42129366	0.997000	0.39634	0.926000	0.36857	0.921000	0.55340	0.689000	0.25437	-1.248000	0.02503	-0.141000	0.14075	TGC	PRDM15	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000141956		0.512	PRDM15-201	KNOWN	basic|CCDS	protein_coding	PRDM15	HGNC	protein_coding		-	0.00	39	0	G	NM_022115		43256297	-1	tier1	-	no_errors	ENST00000269844	ensembl	human	known	74_37	nonsense	20.93	34	9	SNP	0.896	T
PREX2	80243	genome.wustl.edu	37	8	69021848	69021848	+	Missense_Mutation	SNP	C	C	G			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr8:69021848C>G	ENST00000288368.4	+	25	3413	c.3136C>G	c.(3136-3138)Caa>Gaa	p.Q1046E		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	1046					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						GTGTGTTTGTCAAATAGATGA	0.348																																																	0													110.0	108.0	109.0					8																	69021848		2203	4300	6503	SO:0001583	missense	0			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.3136C>G	8.37:g.69021848C>G	ENSP00000288368:p.Gln1046Glu		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.Q1046E	ENST00000288368.4	37	c.3136	CCDS6201.1	8	.	.	.	.	.	.	.	.	.	.	C	20.6	4.019227	0.75275	.	.	ENSG00000046889	ENST00000288368	T	0.64438	-0.1	5.72	5.72	0.89469	.	.	.	.	.	T	0.64907	0.2641	L	0.52573	1.65	0.58432	D	0.999999	P	0.40376	0.715	B	0.42959	0.403	T	0.66948	-0.5794	9	0.62326	D	0.03	.	19.8805	0.96895	0.0:1.0:0.0:0.0	.	1046	Q70Z35	PREX2_HUMAN	E	1046	ENSP00000288368:Q1046E	ENSP00000288368:Q1046E	Q	+	1	0	PREX2	69184402	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.294000	0.78760	2.704000	0.92352	0.655000	0.94253	CAA	PREX2	-	NULL	ENSG00000046889		0.348	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PREX2	HGNC	protein_coding	OTTHUMT00000378620.1	-	0.00	30	0	C	NM_025170		69021848	+1	tier1	-	no_errors	ENST00000288368	ensembl	human	known	74_37	missense	46.15	14	12	SNP	1.000	G
PRKAB1	5564	genome.wustl.edu	37	12	120110200	120110200	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr12:120110200C>T	ENST00000229328.5	+	2	746	c.254C>T	c.(253-255)aCg>aTg	p.T85M	PRKAB1_ENST00000540121.1_5'UTR|PRKAB1_ENST00000541640.1_Missense_Mutation_p.T85M	NM_006253.4	NP_006244.2	Q9Y478	AAKB1_HUMAN	protein kinase, AMP-activated, beta 1 non-catalytic subunit	85	Glycogen-binding domain. {ECO:0000250}.				cell cycle arrest (GO:0007050)|fatty acid biosynthetic process (GO:0006633)|insulin receptor signaling pathway (GO:0008286)|membrane organization (GO:0061024)|positive regulation of gene expression (GO:0010628)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|nucleus (GO:0005634)	protein kinase activity (GO:0004672)			endometrium(2)|large_intestine(3)|lung(5)	10	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.166)	Acetylsalicylic acid(DB00945)|Adenosine monophosphate(DB00131)|Metformin(DB00331)	TTTCGATGGACGGGGGGCGGA	0.517																																																	0													111.0	124.0	120.0					12																	120110200		2203	4300	6503	SO:0001583	missense	0			BC001823	CCDS9191.1	12q24.1-q24.3	2008-05-14			ENSG00000111725	ENSG00000111725			9378	protein-coding gene	gene with protein product	"""AMPK beta 1"""	602740				8557660	Standard	NM_006253		Approved		uc001txg.3	Q9Y478	OTTHUMG00000168954	ENST00000229328.5:c.254C>T	12.37:g.120110200C>T	ENSP00000229328:p.Thr85Met		Q9UBV0|Q9UE20|Q9UEX2|Q9Y6V8	Missense_Mutation	SNP	pfam_AMP_prot_kin_bsu_interact-dom,superfamily_Ig_E-set	p.T85M	ENST00000229328.5	37	c.254	CCDS9191.1	12	.	.	.	.	.	.	.	.	.	.	C	27.2	4.810550	0.90707	.	.	ENSG00000111725	ENST00000229328;ENST00000541640;ENST00000539596	.	.	.	5.29	5.29	0.74685	.	0.132141	0.64402	D	0.000001	T	0.62073	0.2398	L	0.58101	1.795	0.80722	D	1	D	0.54397	0.966	P	0.46339	0.513	T	0.66069	-0.6015	9	0.56958	D	0.05	-34.1632	19.137	0.93431	0.0:1.0:0.0:0.0	.	85	Q9Y478	AAKB1_HUMAN	M	85;85;48	.	ENSP00000229328:T85M	T	+	2	0	PRKAB1	118594583	1.000000	0.71417	0.991000	0.47740	0.848000	0.48234	5.582000	0.67477	2.759000	0.94783	0.555000	0.69702	ACG	PRKAB1	-	superfamily_Ig_E-set	ENSG00000111725		0.517	PRKAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKAB1	HGNC	protein_coding	OTTHUMT00000401731.2	-	0.00	50	0	C	NM_006253		120110200	+1	tier1	-	no_errors	ENST00000229328	ensembl	human	known	74_37	missense	8.33	55	5	SNP	1.000	T
PRSS12	8492	genome.wustl.edu	37	4	119229726	119229726	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr4:119229726G>T	ENST00000296498.3	-	8	1778	c.1496C>A	c.(1495-1497)cCt>cAt	p.P499H		NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	499					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						CAGTCTGACAGGAAAACCTAA	0.383																																																	0													177.0	151.0	160.0					4																	119229726		2203	4300	6503	SO:0001583	missense	0			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.1496C>A	4.37:g.119229726G>T	ENSP00000296498:p.Pro499His		Q9UP16	Missense_Mutation	SNP	pfam_SRCR,pfam_Peptidase_S1,pfam_Kringle,superfamily_Trypsin-like_Pept_dom,superfamily_Srcr_rcpt-rel,superfamily_Kringle-like,smart_Kringle,smart_Srcr_rcpt-rel,smart_Peptidase_S1,pfscan_Kringle,pfscan_SRCR,pfscan_Peptidase_S1,prints_SRCR,prints_Peptidase_S1A	p.P499H	ENST00000296498.3	37	c.1496	CCDS3709.1	4	.	.	.	.	.	.	.	.	.	.	G	22.6	4.316300	0.81469	.	.	ENSG00000164099	ENST00000296498	T	0.29142	1.58	5.66	5.66	0.87406	Speract/scavenger receptor-related (1);	0.000000	0.85682	D	0.000000	T	0.58250	0.2109	M	0.72576	2.205	0.54753	D	0.999984	D	0.89917	1.0	D	0.97110	1.0	T	0.58967	-0.7542	10	0.66056	D	0.02	.	19.7417	0.96234	0.0:0.0:1.0:0.0	.	499	P56730	NETR_HUMAN	H	499	ENSP00000296498:P499H	ENSP00000296498:P499H	P	-	2	0	PRSS12	119449174	1.000000	0.71417	0.997000	0.53966	0.980000	0.70556	6.257000	0.72480	2.665000	0.90641	0.650000	0.86243	CCT	PRSS12	-	superfamily_Srcr_rcpt-rel	ENSG00000164099		0.383	PRSS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRSS12	HGNC	protein_coding	OTTHUMT00000256516.2	-	0.00	71	0	G			119229726	-1	tier1	-	no_errors	ENST00000296498	ensembl	human	known	74_37	missense	6.56	57	4	SNP	1.000	T
PRSS3	5646	genome.wustl.edu	37	9	33794840	33794840	+	Intron	SNP	G	G	A	rs10117993	byFrequency	TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr9:33794840G>A	ENST00000361005.5	+	2	211				PRSS3_ENST00000342836.4_Silent_p.A17A|RP11-133O22.6_ENST00000454429.2_RNA|PRSS3_ENST00000379405.3_5'Flank|PRSS3_ENST00000429677.3_Intron	NM_007343.3	NP_031369	P35030	TRY3_HUMAN	protease, serine, 3						cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|endothelial cell migration (GO:0043542)|innate immune response (GO:0045087)|proteolysis (GO:0006508)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	13			LUSC - Lung squamous cell carcinoma(29;0.0176)			GGAGGAGTGCGCCATTGGTTT	0.498													G|||	318	0.0634984	0.2337	0.013	5008	,	,		20986	0.0		0.0	False		,,,				2504	0.0																0																																										SO:0001627	intron_variant	0				CCDS6545.1, CCDS47958.1, CCDS56570.1, CCDS56571.1	9p13	2010-05-07	2008-03-11		ENSG00000010438	ENSG00000010438	3.4.21.4	"""Serine peptidases / Serine peptidases"""	9486	protein-coding gene	gene with protein product	"""mesotrypsin"""	613578	"""protease, serine, 4 (trypsin 4, brain)"", ""protease, serine, 3 (mesotrypsin)"""	PRSS4		2326201, 8294000	Standard	NM_002771		Approved	TRY3, TRY4	uc003ztj.4	P35030	OTTHUMG00000019798	ENST00000361005.5:c.212-1801G>A	9.37:g.33794840G>A			A8CED1|A8CED3|A9Z1Y4|E7ES07|F8W7P3|P15951|Q15665|Q5VXV0|Q6ISJ4|Q9UQV3	Silent	SNP	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.A17	ENST00000361005.5	37	c.51	CCDS47958.1	9																																																																																			PRSS3	-	NULL	ENSG00000010438		0.498	PRSS3-003	KNOWN	basic|CCDS	protein_coding	PRSS3	HGNC	protein_coding	OTTHUMT00000052121.1	-	0.00	45	0	G	NM_002771		33794840	+1	tier1	rs10117993	no_errors	ENST00000342836	ensembl	human	known	74_37	silent	8.47	54	5	SNP	0.000	A
PTPRJ	5795	genome.wustl.edu	37	11	48152120	48152120	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr11:48152120G>T	ENST00000418331.2	+	8	1819	c.1467G>T	c.(1465-1467)gaG>gaT	p.E489D	PTPRJ_ENST00000440289.2_Missense_Mutation_p.E489D	NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	489	Fibronectin type-III 5. {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						TCACACAGGAGGGAGCTGGCA	0.463																																																	0													99.0	90.0	93.0					11																	48152120		2201	4298	6499	SO:0001583	missense	0			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.1467G>T	11.37:g.48152120G>T	ENSP00000400010:p.Glu489Asp		Q15255|Q6P4H4|Q8NHM2|Q9UDA9	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-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.E489D	ENST00000418331.2	37	c.1467	CCDS7945.1	11	.	.	.	.	.	.	.	.	.	.	G	9.887	1.203300	0.22121	.	.	ENSG00000149177	ENST00000418331;ENST00000440289	T;T	0.53640	0.61;0.61	5.61	-11.2	0.00127	Fibronectin, type III (3);Immunoglobulin-like fold (1);	.	.	.	.	T	0.17704	0.0425	N	0.19112	0.55	0.09310	N	1	B;B	0.09022	0.0;0.002	B;B	0.06405	0.001;0.002	T	0.15206	-1.0445	9	0.07990	T	0.79	.	1.0878	0.01656	0.3426:0.2282:0.2867:0.1425	.	489;489	Q12913;Q6P4H4	PTPRJ_HUMAN;.	D	489	ENSP00000400010:E489D;ENSP00000409733:E489D	ENSP00000400010:E489D	E	+	3	2	PTPRJ	48108696	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	-2.581000	0.00906	-1.374000	0.02131	-0.294000	0.09567	GAG	PTPRJ	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000149177		0.463	PTPRJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRJ	HGNC	protein_coding	OTTHUMT00000390525.1		0.00	44	0	G			48152120	+1			no_errors	ENST00000418331	ensembl	human	known	74_37	missense	5.00	38	2	SNP	0.000	T
PTPRK	5796	genome.wustl.edu	37	6	128383358	128383359	+	Intron	INS	-	-	T	rs7738576|rs74921639		TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr6:128383358_128383359insT	ENST00000368215.3	-	13	2194				PTPRK_ENST00000368210.3_Intron|PTPRK_ENST00000368213.5_Intron|PTPRK_ENST00000368226.4_Intron|PTPRK_ENST00000524481.1_Intron|RP11-103C16.2_ENST00000417390.1_RNA|PTPRK_ENST00000368207.3_Intron|PTPRK_ENST00000368227.3_Intron|PTPRK_ENST00000532331.1_Intron			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K						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)		cttttcttttcttttttttttc	0.376																																																	0																																										SO:0001627	intron_variant	0			L77886	CCDS5137.1, CCDS47473.1, CCDS75517.1	6q22.2-q22.3	2013-02-11			ENSG00000152894	ENSG00000152894		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9674	protein-coding gene	gene with protein product		602545				9047348, 8663237	Standard	NM_002844		Approved	R-PTP-kappa	uc010kfc.3	Q15262	OTTHUMG00000015536	ENST00000368215.3:c.2194+2543->A	6.37:g.128383368_128383368dupT			B2RTQ8|B7ZMG0|Q14763|Q5TG10|Q5TG11	RNA	INS	-	NULL	ENST00000368215.3	37	NULL		6																																																																																			PTPRK	-	-	ENSG00000152894		0.376	PTPRK-005	KNOWN	basic|appris_candidate	protein_coding	PTPRK	HGNC	protein_coding	OTTHUMT00000042163.1		0.00	17	0	-			128383359	-1	tier1		no_errors	ENST00000434424	ensembl	human	known	74_37	rna	14.29	18	3	INS	0.033:0.036	T
PTPRN2	5799	genome.wustl.edu	37	7	157387999	157387999	+	Silent	SNP	G	G	A	rs140246794	byFrequency	TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr7:157387999G>A	ENST00000389418.4	-	17	2436	c.2427C>T	c.(2425-2427)caC>caT	p.H809H	PTPRN2_ENST00000409483.1_Silent_p.H771H|PTPRN2_ENST00000389413.3_Silent_p.H780H|PTPRN2_ENST00000389416.4_Silent_p.H792H|PTPRN2_ENST00000404321.2_Silent_p.H832H	NM_002847.3	NP_002838.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	809	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)		TCCTCGGGTCGTGATCCATCT	0.542																																																	0									,,	0,4406		0,0,2203	55.0	60.0	59.0		2427,2376,2340	-8.5	0.8	7	dbSNP_134	59	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	AA,AG,GG		0.0116,0.0,0.0077	,,	809/1016,792/999,780/987	157387999	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			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.2427C>T	7.37:g.157387999G>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-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.H832	ENST00000389418.4	37	c.2496	CCDS5947.1	7																																																																																			PTPRN2	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt	ENSG00000155093		0.542	PTPRN2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PTPRN2	HGNC	protein_coding	OTTHUMT00000353214.1	-	0.00	43	0	G			157387999	-1	tier1	rs140246794	no_errors	ENST00000404321	ensembl	human	known	74_37	silent	34.48	38	20	SNP	0.900	A
PTX4	390667	genome.wustl.edu	37	16	1537710	1537710	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr16:1537710G>T	ENST00000447419.2	-	2	428	c.403C>A	c.(403-405)Cag>Aag	p.Q135K	PTX4_ENST00000440447.2_Intron|PTX4_ENST00000293922.1_Missense_Mutation_p.Q130K			Q96A99	PTX4_HUMAN	pentraxin 4, long	135						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						CGGGCCCGCTGCTGGCTCCTC	0.706																																																	0													24.0	30.0	28.0					16																	1537710		2194	4286	6480	SO:0001583	missense	0				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.403C>A	16.37:g.1537710G>T	ENSP00000445277:p.Gln135Lys			Missense_Mutation	SNP	pfam_Pentaxin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin	p.Q135K	ENST00000447419.2	37	c.403		16	.	.	.	.	.	.	.	.	.	.	G	14.09	2.432342	0.43224	.	.	ENSG00000251692	ENST00000447419;ENST00000293922	T;T	0.05649	3.56;3.41	5.12	4.17	0.49024	.	4.233140	0.00567	N	0.000293	T	0.13457	0.0326	L	0.50333	1.59	0.09310	N	1	P	0.51537	0.946	P	0.48840	0.592	T	0.34030	-0.9845	10	0.17369	T	0.5	.	11.4347	0.50062	0.0881:0.0:0.9119:0.0	.	130	Q96A99-2	.	K	135;130	ENSP00000445277:Q135K;ENSP00000293922:Q130K	ENSP00000293922:Q130K	Q	-	1	0	PTX4	1477711	0.298000	0.24417	0.003000	0.11579	0.004000	0.04260	3.556000	0.53734	1.173000	0.42796	0.655000	0.94253	CAG	PTX4	-	NULL	ENSG00000251692		0.706	PTX4-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	PTX4	HGNC	protein_coding	OTTHUMT00000432526.1	-	0.00	78	0	G	NM_001013658		1537710	-1	tier1	-	no_errors	ENST00000447419	ensembl	human	known	74_37	missense	5.88	64	4	SNP	0.022	T
PZP	5858	genome.wustl.edu	37	12	9305470	9305470	+	Silent	SNP	A	A	C			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr12:9305470A>C	ENST00000261336.2	-	31	4099	c.4071T>G	c.(4069-4071)acT>acG	p.T1357T	PZP_ENST00000381997.2_Silent_p.T1143T	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	1357					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						GTCCATCGCAAGTTTGGGGCA	0.438																																					Melanoma(125;1402 1695 4685 34487 38571)												0													141.0	129.0	133.0					12																	9305470		2203	4300	6503	SO:0001819	synonymous_variant	0			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.4071T>G	12.37:g.9305470A>C			A6ND27|Q15273|Q2NKL2|Q7M4N7	Silent	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.T1357	ENST00000261336.2	37	c.4071	CCDS8600.1	12																																																																																			PZP	-	superfamily_A-macroglobulin_rcpt-bd	ENSG00000126838		0.438	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PZP	HGNC	protein_coding	OTTHUMT00000337624.1	-	0.00	64	0	A	NM_002864		9305470	-1	tier1	-	no_errors	ENST00000261336	ensembl	human	known	74_37	silent	25.00	39	13	SNP	0.876	C
RASSF6	166824	genome.wustl.edu	37	4	74459299	74459299	+	Silent	SNP	G	G	A	rs141793183		TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr4:74459299G>A	ENST00000342081.3	-	4	382	c.252C>T	c.(250-252)ggC>ggT	p.G84G	RASSF6_ENST00000307439.5_Silent_p.G52G|RASSF6_ENST00000335049.5_Silent_p.G40G|RASSF6_ENST00000395777.2_Silent_p.G52G	NM_201431.2	NP_958834.1	Q6ZTQ3	RASF6_HUMAN	Ras association (RalGDS/AF-6) domain family member 6	84					apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|signal transduction (GO:0007165)					breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|pancreas(2)|skin(2)	17	Breast(15;0.00102)		all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			CAATTAGTTTGCCATCTTCAG	0.333																																																	0								G	,	1,4405	2.1+/-5.4	0,1,2202	100.0	101.0	101.0		156,252	-2.1	0.0	4	dbSNP_134	101	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	RASSF6	NM_177532.3,NM_201431.1	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	52/338,84/370	74459299	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AY217664	CCDS3558.1, CCDS3559.1, CCDS58904.1, CCDS58905.1	4q21.1	2008-02-22	2008-02-22		ENSG00000169435	ENSG00000169435			20796	protein-coding gene	gene with protein product		612620					Standard	NM_177532		Approved		uc003hhd.2	Q6ZTQ3	OTTHUMG00000130007	ENST00000342081.3:c.252C>T	4.37:g.74459299G>A			Q68DT2|Q6PDA6|Q86WG9|Q86WH0	Silent	SNP	pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SARAH_dom	p.G84	ENST00000342081.3	37	c.252	CCDS3558.1	4																																																																																			RASSF6	-	NULL	ENSG00000169435		0.333	RASSF6-002	KNOWN	basic|CCDS	protein_coding	RASSF6	HGNC	protein_coding	OTTHUMT00000252279.1	-	0.00	81	0	G	NM_177532		74459299	-1	tier1	rs141793183	no_errors	ENST00000342081	ensembl	human	known	74_37	silent	10.13	71	8	SNP	0.013	A
RB1	5925	genome.wustl.edu	37	13	49039405	49039406	+	Frame_Shift_Ins	INS	-	-	A			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr13:49039405_49039406insA	ENST00000267163.4	+	23	2528_2529	c.2390_2391insA	c.(2389-2394)ttacggfs	p.R798fs		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	798	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.R798fs*17(1)|p.L797fs*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)"""	AGTTCACCCTTACGGATTCCTG	0.401		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(11)|Insertion - Frameshift(1)|Deletion - Frameshift(1)	bone(11)|haematopoietic_and_lymphoid_tissue(4)|breast(4)|eye(2)|adrenal_gland(1)|soft_tissue(1)|endometrium(1)|urinary_tract(1)|lung(1)|ovary(1)|liver(1)	GRCh37	CI012716|CM023820	RB1	I|M																																				SO:0001589	frameshift_variant	0	Familial Cancer Database		M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.2391dupA	13.37:g.49039406_49039406dupA	ENSP00000267163:p.Arg798fs		A8K5E3|P78499|Q5VW46|Q8IZL4	Frame_Shift_Ins	INS	pfam_RB_C,pfam_RB_A,pfam_RB_B,pfam_RB_N,superfamily_Cyclin-like,smart_Cyclin-like	p.R798fs	ENST00000267163.4	37	c.2390_2391	CCDS31973.1	13																																																																																			RB1	-	pfam_RB_C	ENSG00000139687		0.401	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	RB1	HGNC	protein_coding	OTTHUMT00000044884.1		0.00	60	0	-			49039406	+1	tier1		no_errors	ENST00000267163	ensembl	human	known	74_37	frame_shift_ins	59.32	24	35	INS	1.000:0.992	A
RBMS2	5939	genome.wustl.edu	37	12	56974967	56974967	+	Splice_Site	SNP	G	G	T			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr12:56974967G>T	ENST00000262031.5	+	6	637		c.e6-1		RBMS2_ENST00000550726.1_Splice_Site|RBMS2_ENST00000552247.2_Splice_Site|RBMS2_ENST00000542360.1_Splice_Site	NM_002898.3	NP_002889.1	Q15434	RBMS2_HUMAN	RNA binding motif, single stranded interacting protein 2						RNA processing (GO:0006396)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(3)|skin(2)|urinary_tract(1)	18						ATGCTCCTTAGGATGGAGTCC	0.493																																																	0													146.0	144.0	145.0					12																	56974967		2203	4300	6503	SO:0001630	splice_region_variant	0			D28483	CCDS8923.1	12q13.13	2013-02-12			ENSG00000076067	ENSG00000076067		"""RNA binding motif (RRM) containing"""	9909	protein-coding gene	gene with protein product		602387				8041632	Standard	NM_002898		Approved	SCR3	uc001sln.2	Q15434	OTTHUMG00000170488	ENST00000262031.5:c.543-1G>T	12.37:g.56974967G>T				Splice_Site	SNP	-	e6-1	ENST00000262031.5	37	c.543-1	CCDS8923.1	12	.	.	.	.	.	.	.	.	.	.	G	19.74	3.884451	0.72410	.	.	ENSG00000076067	ENST00000262031;ENST00000552247;ENST00000550726;ENST00000542360	.	.	.	5.08	4.19	0.49359	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.6481	0.56746	0.0815:0.0:0.9185:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RBMS2	55261234	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.214000	0.95140	1.289000	0.44618	0.563000	0.77884	.	RBMS2	-	-	ENSG00000076067		0.493	RBMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBMS2	HGNC	protein_coding	OTTHUMT00000409366.2	-	0.00	46	0	G	NM_002898	Intron	56974967	+1	tier1	-	no_errors	ENST00000262031	ensembl	human	known	74_37	splice_site	6.56	57	4	SNP	1.000	T
RDH10	157506	genome.wustl.edu	37	8	74231402	74231402	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr8:74231402G>T	ENST00000240285.5	+	3	1275	c.597G>T	c.(595-597)ttG>ttT	p.L199F	RP11-434I12.2_ENST00000514599.1_RNA|RP11-434I12.2_ENST00000517475.1_RNA|RDH10_ENST00000519380.1_Missense_Mutation_p.L34F	NM_172037.4	NP_742034.1	Q8IZV5	RDH10_HUMAN	retinol dehydrogenase 10 (all-trans)	199					bud elongation involved in lung branching (GO:0060449)|ear development (GO:0043583)|embryonic camera-type eye development (GO:0031076)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|gonad development (GO:0008406)|in utero embryonic development (GO:0001701)|metanephros development (GO:0001656)|neural crest cell development (GO:0014032)|nose development (GO:0043584)|phototransduction, visible light (GO:0007603)|primary lung bud formation (GO:0060431)|retinal metabolic process (GO:0042574)|retinoic acid biosynthetic process (GO:0002138)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601)	cell body (GO:0044297)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	NADP-retinol dehydrogenase activity (GO:0052650)|retinol dehydrogenase activity (GO:0004745)			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)	11	Breast(64;0.0954)		Epithelial(68;0.0105)|all cancers(69;0.0465)|BRCA - Breast invasive adenocarcinoma(89;0.0608)			CAAGTTCCTTGGGATTGTTCA	0.398																																																	0													246.0	222.0	230.0					8																	74231402		2203	4300	6503	SO:0001583	missense	0			AF456765	CCDS6213.1	8q21.11	2011-09-20			ENSG00000121039	ENSG00000121039	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	19975	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 16C, member 4"""	607599				12407145, 19027726	Standard	NM_172037		Approved	SDR16C4	uc003xzi.3	Q8IZV5	OTTHUMG00000164492	ENST00000240285.5:c.597G>T	8.37:g.74231402G>T	ENSP00000240285:p.Leu199Phe			Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR	p.L199F	ENST00000240285.5	37	c.597	CCDS6213.1	8	.	.	.	.	.	.	.	.	.	.	G	17.72	3.458505	0.63401	.	.	ENSG00000121039	ENST00000240285;ENST00000521928;ENST00000519380	D;D;D	0.87650	-2.28;-2.28;-2.28	5.42	3.49	0.39957	Short-chain dehydrogenase/reductase, conserved site (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.86201	0.5876	N	0.20845	0.615	0.58432	D	0.999993	D	0.89917	1.0	D	0.79784	0.993	D	0.85591	0.1246	10	0.52906	T	0.07	.	8.5713	0.33572	0.157:0.1333:0.7097:0.0	.	199	Q8IZV5	RDH10_HUMAN	F	199;34;34	ENSP00000240285:L199F;ENSP00000429727:L34F;ENSP00000428132:L34F	ENSP00000240285:L199F	L	+	3	2	RDH10	74393956	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.937000	0.48979	1.523000	0.49018	0.650000	0.86243	TTG	RDH10	-	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH	ENSG00000121039		0.398	RDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RDH10	HGNC	protein_coding	OTTHUMT00000378982.1	-	0.00	90	0	G			74231402	+1	tier1	-	no_errors	ENST00000240285	ensembl	human	known	74_37	missense	39.33	54	35	SNP	1.000	T
RGS2	5997	genome.wustl.edu	37	1	192779527	192779527	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr1:192779527G>T	ENST00000235382.5	+	3	271	c.240G>T	c.(238-240)tgG>tgT	p.W80C	RGS2_ENST00000483295.1_3'UTR	NM_002923.3	NP_002914.1	P41220	RGS2_HUMAN	regulator of G-protein signaling 2	80	Necessary to inhibit protein synthesis.				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						CACAGCTGTGGTCAGAAGCAT	0.483																																					Pancreas(71;51 2183 4981)												0													119.0	115.0	116.0					1																	192779527		2203	4300	6503	SO:0001583	missense	0			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.240G>T	1.37:g.192779527G>T	ENSP00000235382:p.Trp80Cys		Q6I9U5	Missense_Mutation	SNP	pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom	p.W80C	ENST00000235382.5	37	c.240	CCDS1377.1	1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.842871	0.91197	.	.	ENSG00000116741	ENST00000235382	T	0.67698	-0.28	5.81	5.81	0.92471	Regulator of G protein signalling (1);Regulator of G protein signalling superfamily (1);Regulator of G-protein signaling, domain 1 (1);	0.000000	0.85682	D	0.000000	T	0.74374	0.3708	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.76844	-0.2809	10	0.87932	D	0	.	18.6401	0.91392	0.0:0.0:1.0:0.0	.	80	P41220	RGS2_HUMAN	C	80	ENSP00000235382:W80C	ENSP00000235382:W80C	W	+	3	0	RGS2	191046150	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.827000	0.99397	2.756000	0.94617	0.655000	0.94253	TGG	RGS2	-	superfamily_Regulat_G_prot_signal_superfam,prints_RGS_dom	ENSG00000116741		0.483	RGS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGS2	HGNC	protein_coding	OTTHUMT00000086396.1	-	0.00	36	0	G	NM_002923		192779527	+1	tier1	-	no_errors	ENST00000235382	ensembl	human	known	74_37	missense	6.78	55	4	SNP	1.000	T
RIC8A	60626	genome.wustl.edu	37	11	209475	209475	+	Silent	SNP	G	G	A			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr11:209475G>A	ENST00000526104.1	+	3	1545	c.201G>A	c.(199-201)ctG>ctA	p.L67L	RIC8A_ENST00000527696.1_Silent_p.L61L|BET1L_ENST00000410108.1_5'Flank|BET1L_ENST00000332865.6_5'Flank|BET1L_ENST00000325147.9_5'Flank|BET1L_ENST00000486280.1_5'Flank|RIC8A_ENST00000325207.5_Silent_p.L67L|BET1L_ENST00000382762.3_5'Flank|BET1L_ENST00000529614.2_5'Flank			Q9NPQ8	RIC8A_HUMAN	RIC8 guanine nucleotide exchange factor A	67					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)		TCATCTGGCTGCAGAGTGTCC	0.642																																																	0													81.0	77.0	79.0					11																	209475		2203	4300	6503	SO:0001819	synonymous_variant	0			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.201G>A	11.37:g.209475G>A			Q0P508|Q2T9J1|Q7Z352|Q96EZ1|Q96SZ2|Q9H064|Q9H5H3|Q9H9E7	Silent	SNP	pfam_Gua_nucleotide_exch_fac_Ric8,superfamily_ARM-type_fold,prints_Synembryn	p.L67	ENST00000526104.1	37	c.201		11																																																																																			RIC8A	-	pfam_Gua_nucleotide_exch_fac_Ric8,superfamily_ARM-type_fold	ENSG00000177963		0.642	RIC8A-002	KNOWN	basic|appris_candidate	protein_coding	RIC8A	HGNC	protein_coding	OTTHUMT00000384761.1		0.00	84	0	G	NM_021932		209475	+1			no_errors	ENST00000325207	ensembl	human	known	74_37	silent	5.13	74	4	SNP	1.000	A
RNF212	285498	genome.wustl.edu	37	4	1087628	1087628	+	Intron	SNP	G	G	T			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr4:1087628G>T	ENST00000433731.2	-	3	308				RNF212_ENST00000382968.5_Intron|RNF212_ENST00000333673.5_Missense_Mutation_p.P141T			Q495C1	RN212_HUMAN	ring finger protein 212						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)		TGGGCCTCTGGCTGGCTCTGG	0.637																																																	0																																										SO:0001627	intron_variant	0			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.246+2924C>A	4.37:g.1087628G>T			C9J8N0|Q495C0|Q86W82|Q8IY99|Q8N8U7	Missense_Mutation	SNP	pfscan_Znf_RING	p.P141T	ENST00000433731.2	37	c.421	CCDS46996.1	4	.	.	.	.	.	.	.	.	.	.	G	5.440	0.266269	0.10294	.	.	ENSG00000178222	ENST00000333673	.	.	.	0.974	-1.62	0.08372	.	1.364070	0.05141	N	0.494206	T	0.13457	0.0326	N	0.08118	0	0.09310	N	1	P	0.48694	0.914	B	0.35182	0.197	T	0.19976	-1.0289	9	0.72032	D	0.01	.	6.382	0.21540	0.0:0.4725:0.5275:0.0	.	141	C9J8N0	.	T	141	.	ENSP00000327481:P141T	P	-	1	0	RNF212	1077628	0.003000	0.15002	0.000000	0.03702	0.003000	0.03518	0.019000	0.13444	-0.616000	0.05671	-0.502000	0.04539	CCA	RNF212	-	NULL	ENSG00000178222		0.637	RNF212-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RNF212	HGNC	protein_coding	OTTHUMT00000359124.2		0.00	102	0	G	NM_194439		1087628	-1			no_errors	ENST00000333673	ensembl	human	known	74_37	missense	5.19	73	4	SNP	0.000	T
RPS14	6208	genome.wustl.edu	37	5	149827257	149827257	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr5:149827257C>T	ENST00000401695.3	-	2	86	c.40G>A	c.(40-42)Gtc>Atc	p.V14I	RPS14_ENST00000312037.5_Missense_Mutation_p.V14I|RPS14_ENST00000407193.1_Missense_Mutation_p.V14I			P62263	RS14_HUMAN	ribosomal protein S14	14					cellular protein metabolic process (GO:0044267)|erythrocyte differentiation (GO:0030218)|gene expression (GO:0010467)|maturation of SSU-rRNA (GO:0030490)|mRNA metabolic process (GO:0016071)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translation (GO:0006417)|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)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)	mRNA 5'-UTR binding (GO:0048027)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)|translation regulator activity (GO:0045182)			central_nervous_system(1)|lung(1)|skin(1)	3		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGGCTGATGACCTGTTCTTCC	0.443																																																	0													136.0	119.0	125.0					5																	149827257		2203	4300	6503	SO:0001583	missense	0				CCDS4307.1	5q31-q33	2012-10-02			ENSG00000164587	ENSG00000164587		"""S ribosomal proteins"""	10387	protein-coding gene	gene with protein product	"""emetine resistance"", ""40S ribosomal protein S14"""	130620				3785212, 1549121	Standard	XM_006714790		Approved	EMTB, S14	uc003lsj.3	P62263	OTTHUMG00000130080	ENST00000401695.3:c.40G>A	5.37:g.149827257C>T	ENSP00000385958:p.Val14Ile		B2R5G5|D3DQG5|P06366|Q5BJI0	Missense_Mutation	SNP	pfam_Ribosomal_S11,pirsf_Ribosomal_S11	p.V14I	ENST00000401695.3	37	c.40	CCDS4307.1	5	.	.	.	.	.	.	.	.	.	.	C	19.32	3.804687	0.70682	.	.	ENSG00000164587	ENST00000401695;ENST00000407193;ENST00000521466;ENST00000312037	.	.	.	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.69097	0.3073	M	0.76170	2.325	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.67465	-0.5664	9	0.49607	T	0.09	.	18.7862	0.91955	0.0:1.0:0.0:0.0	.	14	P62263	RS14_HUMAN	I	14	.	ENSP00000311028:V14I	V	-	1	0	RPS14	149807450	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.440000	0.80464	2.498000	0.84270	0.557000	0.71058	GTC	RPS14	-	pirsf_Ribosomal_S11	ENSG00000164587		0.443	RPS14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS14	HGNC	protein_coding	OTTHUMT00000252373.1	-	0.00	59	0	C	NM_001025071		149827257	-1	tier1	-	no_errors	ENST00000312037	ensembl	human	known	74_37	missense	57.14	15	20	SNP	1.000	T
RSC1A1	6248	genome.wustl.edu	37	1	15988150	15988150	+	Missense_Mutation	SNP	G	G	C			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr1:15988150G>C	ENST00000345034.1	+	1	1787	c.1787G>C	c.(1786-1788)cGa>cCa	p.R596P	DDI2_ENST00000480945.1_3'UTR	NM_006511.1	NP_006502.1	Q92681	RSCA1_HUMAN	regulatory solute carrier protein, family 1, member 1	596	UBA. {ECO:0000255|PROSITE- ProRule:PRU00212}.				intestinal absorption (GO:0050892)|negative regulation of transport (GO:0051051)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	brush border (GO:0005903)|cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ion channel inhibitor activity (GO:0008200)			kidney(1)|large_intestine(3)|lung(6)|ovary(1)	11		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|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;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GCTTTGCATCGAGTTGGTGGG	0.478																																																	0													158.0	149.0	152.0					1																	15988150		2203	4300	6503	SO:0001583	missense	0			BN000122, X82877	CCDS161.1	1p36.1	1998-08-25			ENSG00000215695	ENSG00000215695			10458	protein-coding gene	gene with protein product		601966					Standard	NM_006511		Approved	RS1	uc010obn.2	Q92681	OTTHUMG00000067830	ENST00000345034.1:c.1787G>C	1.37:g.15988150G>C	ENSP00000341963:p.Arg596Pro		B2RBP5	Missense_Mutation	SNP	superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.R596P	ENST00000345034.1	37	c.1787	CCDS161.1	1	.	.	.	.	.	.	.	.	.	.	G	11.47	1.648714	0.29336	.	.	ENSG00000215695	ENST00000345034	T	0.55413	0.52	5.96	0.702	0.18110	Ubiquitin-associated/translation elongation factor EF1B, N-terminal, eukaryote (2);	0.401734	0.18644	N	0.135181	T	0.46210	0.1381	N	0.08118	0	0.32934	D	0.517467	D	0.71674	0.998	D	0.65987	0.94	T	0.57556	-0.7791	10	0.72032	D	0.01	4.9485	8.6932	0.34280	0.5755:0.0:0.4245:0.0	.	596	Q92681	RSCA1_HUMAN	P	596	ENSP00000341963:R596P	ENSP00000341963:R596P	R	+	2	0	RSC1A1	15860737	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	0.888000	0.28268	0.081000	0.16988	-0.150000	0.13652	CGA	RSC1A1	-	superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	ENSG00000215695		0.478	RSC1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RSC1A1	HGNC	protein_coding	OTTHUMT00000145500.1	-	0.00	65	0	G	NM_006511		15988150	+1	tier1	-	no_errors	ENST00000345034	ensembl	human	known	74_37	missense	20.00	24	6	SNP	1.000	C
SAMD9L	219285	genome.wustl.edu	37	7	92764139	92764139	+	Silent	SNP	T	T	C			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr7:92764139T>C	ENST00000318238.4	-	5	2362	c.1146A>G	c.(1144-1146)gaA>gaG	p.E382E	SAMD9L_ENST00000437805.1_Silent_p.E382E|SAMD9L_ENST00000411955.1_Silent_p.E382E	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	382					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)			TTCCATACTCTTCTTCAGCCT	0.398																																																	0													173.0	183.0	179.0					7																	92764139		2203	4299	6502	SO:0001819	synonymous_variant	0			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.1146A>G	7.37:g.92764139T>C			A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Silent	SNP	superfamily_SAM/pointed,superfamily_P-loop_NTPase,pfscan_SAM	p.E382	ENST00000318238.4	37	c.1146	CCDS34681.1	7																																																																																			SAMD9L	-	NULL	ENSG00000177409		0.398	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMD9L	HGNC	protein_coding	OTTHUMT00000341730.1	-	0.00	24	0	T	NM_152703		92764139	-1	tier1	-	no_errors	ENST00000318238	ensembl	human	known	74_37	silent	32.00	17	8	SNP	0.574	C
SCN3A	6328	genome.wustl.edu	37	2	165946875	165946875	+	Missense_Mutation	SNP	C	C	G			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr2:165946875C>G	ENST00000360093.3	-	28	6279	c.5788G>C	c.(5788-5790)Gag>Cag	p.E1930Q	SCN3A_ENST00000540861.1_Missense_Mutation_p.E413Q|SCN3A_ENST00000283254.7_Missense_Mutation_p.E1930Q|SCN3A_ENST00000465043.1_5'Flank|AC013463.2_ENST00000431341.1_RNA|SCN3A_ENST00000409101.3_Missense_Mutation_p.E1881Q	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1930					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)	TTAATTGCCTCTTTGTTATAG	0.353																																																	0													79.0	79.0	79.0					2																	165946875		2203	4300	6503	SO:0001583	missense	0			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.5788G>C	2.37:g.165946875C>G	ENSP00000353206:p.Glu1930Gln		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.E1930Q	ENST00000360093.3	37	c.5788		2	.	.	.	.	.	.	.	.	.	.	C	0.010	-1.756003	0.00663	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000540861	D;D;D;D	0.96774	-3.87;-3.87;-3.82;-4.12	6.03	6.03	0.97812	.	0.220503	0.31542	N	0.007462	D	0.89315	0.6680	N	0.04090	-0.28	0.34546	D	0.710808	B;B;B	0.15930	0.001;0.001;0.015	B;B;B	0.13407	0.002;0.002;0.009	D	0.86902	0.2055	10	0.16896	T	0.51	.	14.129	0.65240	0.0:0.9235:0.0:0.0765	.	1881;1881;1930	Q9NY46-2;Q9NY46-4;Q9NY46-3	.;.;.	Q	1930;1930;1881;413	ENSP00000353206:E1930Q;ENSP00000283254:E1930Q;ENSP00000386726:E1881Q;ENSP00000439920:E413Q	ENSP00000283254:E1930Q	E	-	1	0	SCN3A	165655121	1.000000	0.71417	1.000000	0.80357	0.191000	0.23601	1.579000	0.36536	2.861000	0.98227	0.655000	0.94253	GAG	SCN3A	-	NULL	ENSG00000153253		0.353	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	SCN3A	HGNC	protein_coding			0.00	30	0	C	NM_006922		165946875	-1			no_errors	ENST00000283254	ensembl	human	known	74_37	missense	9.68	28	3	SNP	0.801	G
SCN9A	6335	genome.wustl.edu	37	2	167142872	167142872	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr2:167142872C>T	ENST00000409435.1	-	10	1575	c.1576G>A	c.(1576-1578)Gaa>Aaa	p.E526K	SCN9A_ENST00000375387.4_Missense_Mutation_p.E527K|SCN9A_ENST00000303354.6_Missense_Mutation_p.E527K|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Missense_Mutation_p.E526K			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	526					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)	AACCTCTTTTCATGTGCTCGC	0.438																																																	0													256.0	239.0	245.0					2																	167142872		1917	4138	6055	SO:0001583	missense	0			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.1576G>A	2.37:g.167142872C>T	ENSP00000386330:p.Glu526Lys		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.E527K	ENST00000409435.1	37	c.1579	CCDS46441.1	2	.	.	.	.	.	.	.	.	.	.	C	12.11	1.838415	0.32513	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435;ENST00000454569;ENST00000452182	D;D;D;D;D;D	0.90788	-2.73;-2.73;-2.73;-2.73;-2.73;-2.73	5.76	4.87	0.63330	Domain of unknown function DUF3451 (1);	1.144910	0.06508	N	0.737478	D	0.92208	0.7529	M	0.78223	2.4	0.38110	D	0.937523	B;B;B	0.28783	0.011;0.003;0.222	B;B;B	0.38327	0.034;0.072;0.271	D	0.84901	0.0842	10	0.42905	T	0.14	.	10.0093	0.41977	0.1351:0.7947:0.0:0.0701	.	526;526;527	E7EUN6;Q15858;E9PF08	.;SCN9A_HUMAN;.	K	526;527;527;526;391;391	ENSP00000386306:E526K;ENSP00000364536:E527K;ENSP00000304748:E527K;ENSP00000386330:E526K;ENSP00000413212:E391K;ENSP00000393141:E391K	ENSP00000304748:E527K	E	-	1	0	SCN9A	166851118	0.998000	0.40836	0.410000	0.26471	0.035000	0.12851	5.555000	0.67301	2.725000	0.93324	0.585000	0.79938	GAA	SCN9A	-	pfam_DUF3451	ENSG00000169432		0.438	SCN9A-004	KNOWN	basic|CCDS	protein_coding	SCN9A	HGNC	protein_coding	OTTHUMT00000333639.1	-	0.00	69	0	C	NM_002977		167142872	-1	tier1	-	no_errors	ENST00000303354	ensembl	human	known	74_37	missense	13.16	66	10	SNP	0.589	T
SDAD1P1	157489	genome.wustl.edu	37	8	26237201	26237201	+	RNA	SNP	C	C	A			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr8:26237201C>A	ENST00000519902.1	-	0	2747									SDA1 domain containing 1 pseudogene 1																		CACCCCTCGGCTCTTCATCAC	0.443																																																	0																																												0					8p21.2	2010-11-24			ENSG00000228451	ENSG00000228451			31403	pseudogene	pseudogene							Standard	NG_006994		Approved				OTTHUMG00000163945		8.37:g.26237201C>A				RNA	SNP	-	NULL	ENST00000519902.1	37	NULL		8																																																																																			SDAD1P1	-	-	ENSG00000228451		0.443	SDAD1P1-002	KNOWN	basic	processed_transcript	SDAD1P1	HGNC	pseudogene	OTTHUMT00000376512.1	-	0.00	66	0	C	NG_006994		26237201	-1	tier1	-	no_errors	ENST00000519902	ensembl	human	known	74_37	rna	85.42	7	41	SNP	0.361	A
SCRIB	23513	genome.wustl.edu	37	8	144896032	144896033	+	Missense_Mutation	DNP	GC	GC	AA			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G|C	G|C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr8:144896032_144896033GC>AA	ENST00000320476.3	-	3	317_318	c.311_312GC>TT	c.(310-312)tGC>tTT	p.C104F	SCRIB_ENST00000377533.3_Missense_Mutation_p.C23F|MIR937_ENST00000401271.1_RNA|SCRIB_ENST00000356994.2_Missense_Mutation_p.C104F	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	104	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)			CCAGAGCCTTGCAGAACTTGAT	0.634																																					Pancreas(51;966 1133 10533 14576 29674)												0																																										SO:0001583	missense	0			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.311_312delinsAA	8.37:g.144896032_144896033delinsAA	ENSP00000322938:p.Cys104Phe		Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Silent|Missense_Mutation	SNP	pfam_PDZ,pfam_Leu-rich_rpt,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ	p.C104|p.C104F	ENST00000320476.3	37	c.312|c.311	CCDS6411.1	8																																																																																			SCRIB	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000180900		0.634	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SCRIB	HGNC	protein_coding	OTTHUMT00000382215.1	-	0.00	91|93	0	G|C	NM_015356		144896032|144896033	-1	tier1	-	no_errors	ENST00000320476	ensembl	human	known	74_37	silent|missense	25.30	62	21	SNP	1.000	A
SDHA	6389	genome.wustl.edu	37	5	235447	235447	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr5:235447A>G	ENST00000264932.6	+	9	1368	c.1253A>G	c.(1252-1254)aAg>aGg	p.K418R	SDHA_ENST00000504309.1_Missense_Mutation_p.K418R|SDHA_ENST00000510361.1_Missense_Mutation_p.K370R	NM_004168.2	NP_004159.2	P31040	SDHA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	418					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)	ACCAACTACAAGGGGCAGGTG	0.582									Familial Paragangliomas																																								0													52.0	46.0	48.0					5																	235447		2203	4300	6503	SO:0001583	missense	0	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.1253A>G	5.37:g.235447A>G	ENSP00000264932:p.Lys418Arg		A8K5J6|B4DJ60|E9PBJ5|Q16395|Q59GW8|Q8IW48|Q9UMY5	Missense_Mutation	SNP	pfam_FAD_bind_dom,pfam_Fum_Rdtase/Succ_DH_flav-like_C,superfamily_Succ_DH/fumarate_Rdtase_cat,superfamily_Fum_Rdtase/Succ_DH_flav-like_C,tigrfam_Succ_DH_flav_su_fwd,tigrfam_Succ_Dhase_FrdA_Gneg	p.K418R	ENST00000264932.6	37	c.1253	CCDS3853.1	5	.	.	.	.	.	.	.	.	.	.	a	13.16	2.153964	0.38021	.	.	ENSG00000073578	ENST00000264932;ENST00000327872;ENST00000504309;ENST00000510361	T;T;T	0.70516	-0.49;-0.49;-0.49	5.12	3.69	0.42338	Fumarate reductase/succinate dehydrogenase flavoprotein, N-terminal (1);	0.000000	0.85682	U	0.000000	T	0.52208	0.1720	N	0.21194	0.64	0.51767	D	0.999935	B;B;B;B;B	0.14012	0.005;0.004;0.009;0.001;0.001	B;B;B;B;B	0.19666	0.026;0.011;0.016;0.004;0.004	T	0.37407	-0.9707	10	0.20519	T	0.43	.	7.898	0.29719	0.8768:0.0:0.1232:0.0	.	370;418;418;418;424	E9PBJ5;B4DYN5;D6RFM5;P31040;Q59GW8	.;.;.;DHSA_HUMAN;.	R	418;273;418;370	ENSP00000264932:K418R;ENSP00000426514:K418R;ENSP00000427703:K370R	ENSP00000264932:K418R	K	+	2	0	SDHA	288447	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	5.331000	0.65905	0.905000	0.36596	0.455000	0.32223	AAG	SDHA	-	pfam_FAD_bind_dom,tigrfam_Succ_DH_flav_su_fwd,tigrfam_Succ_Dhase_FrdA_Gneg	ENSG00000073578		0.582	SDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDHA	HGNC	protein_coding	OTTHUMT00000206599.1	-	0.00	104	0	A	NM_004168		235447	+1	tier1	-	no_errors	ENST00000264932	ensembl	human	known	74_37	missense	7.41	50	4	SNP	1.000	G
SEC16A	9919	genome.wustl.edu	37	9	139369857	139369857	+	Silent	SNP	G	G	A			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr9:139369857G>A	ENST00000371706.3	-	1	1710	c.1677C>T	c.(1675-1677)aaC>aaT	p.N559N	SEC16A_ENST00000290037.6_Silent_p.N559N|SEC16A_ENST00000313050.7_Silent_p.N737N|SEC16A_ENST00000431893.2_Silent_p.N559N			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	559					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)		CCAGAAGGACGTTGCCTCCAA	0.612																																																	0													33.0	39.0	37.0					9																	139369857		2018	4158	6176	SO:0001819	synonymous_variant	0			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.1677C>T	9.37:g.139369857G>A			A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Silent	SNP	NULL	p.N737	ENST00000371706.3	37	c.2211		9																																																																																			SEC16A	-	NULL	ENSG00000148396		0.612	SEC16A-001	KNOWN	basic	protein_coding	SEC16A	HGNC	protein_coding	OTTHUMT00000055077.1		0.00	24	0	G	XM_088459		139369857	-1			no_errors	ENST00000313050	ensembl	human	known	74_37	silent	13.04	20	3	SNP	0.994	A
SEMA6C	10500	genome.wustl.edu	37	1	151109436	151109436	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr1:151109436C>T	ENST00000341697.3	-	11	2562	c.871G>A	c.(871-873)Ggg>Agg	p.G291R				Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	291	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)			GTAGAGTCCCCAGGGACAGAG	0.567																																																	0													105.0	112.0	110.0					1																	151109436		2203	4300	6503	SO:0001583	missense	0			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.871G>A	1.37:g.151109436C>T	ENSP00000344148:p.Gly291Arg		D3DV15|Q5JR71|Q5JR72|Q5JR73|Q8WXT8|Q8WXT9|Q8WXU0|Q96JF8	Missense_Mutation	SNP	pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,pfscan_Semap_dom	p.G291R	ENST00000341697.3	37	c.871	CCDS984.1	1	.	.	.	.	.	.	.	.	.	.	C	30	5.051522	0.93793	.	.	ENSG00000143434	ENST00000368914;ENST00000368912;ENST00000368913;ENST00000341697;ENST00000392792	T;T;T;T	0.28666	1.6;1.6;1.6;1.6	4.69	4.69	0.59074	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.62938	0.2469	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;0.999;1.0;1.0	T	0.75836	-0.3177	10	0.87932	D	0	.	15.1613	0.72788	0.0:1.0:0.0:0.0	.	291;251;291;291	B4DZD4;Q9H3T2-2;Q9H3T2-3;Q9H3T2	.;.;.;SEM6C_HUMAN	R	291;251;291;291;291	ENSP00000357910:G291R;ENSP00000357908:G251R;ENSP00000357909:G291R;ENSP00000344148:G291R	ENSP00000344148:G291R	G	-	1	0	SEMA6C	149376060	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.609000	0.82925	2.434000	0.82447	0.561000	0.74099	GGG	SEMA6C	-	pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom	ENSG00000143434		0.567	SEMA6C-004	KNOWN	alternative_5_UTR|mRNA_start_NF|basic|CCDS	protein_coding	SEMA6C	HGNC	protein_coding	OTTHUMT00000034074.1		0.00	65	0	C	NM_030913		151109436	-1			no_errors	ENST00000368913	ensembl	human	known	74_37	missense	5.80	65	4	SNP	1.000	T
SEMG2	6407	genome.wustl.edu	37	20	43851148	43851148	+	Missense_Mutation	SNP	G	G	A	rs145586123	byFrequency	TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr20:43851148G>A	ENST00000372769.3	+	2	965	c.875G>A	c.(874-876)cGt>cAt	p.R292H		NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN	semenogelin II	292	4 X 60 AA tandem repeats, type I.|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)	p.R292H(1)|p.R292L(1)		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)				CCGTCTTCACGTACAGAAGAA	0.398																																																	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)						G	HIS/ARG	0,4406	2.1+/-5.4	0,0,2203	94.0	88.0	90.0		875	-0.9	0.0	20	dbSNP_134	90	4,8596	3.7+/-12.6	0,4,4296	yes	missense	SEMG2	NM_003008.2	29	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	benign	292/583	43851148	4,13002	2203	4300	6503	SO:0001583	missense	0				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.875G>A	20.37:g.43851148G>A	ENSP00000361855:p.Arg292His		Q53ZU2|Q6X2M5|Q6X2M6	Missense_Mutation	SNP	pfam_Semenogelin	p.R292H	ENST00000372769.3	37	c.875	CCDS13346.1	20	.	.	.	.	.	.	.	.	.	.	G	5.553	0.286965	0.10513	0.0	4.65E-4	ENSG00000124157	ENST00000372769	T	0.06449	3.3	1.28	-0.886	0.10590	.	.	.	.	.	T	0.03477	0.0100	N	0.14661	0.345	0.09310	N	1	B;B;B	0.14438	0.005;0.01;0.01	B;B;B	0.12156	0.007;0.007;0.007	T	0.42224	-0.9464	9	0.48119	T	0.1	.	4.015	0.09639	0.4624:0.0:0.5376:0.0	.	292;292;292	A8K6Z6;Q6IRW3;Q02383	.;.;SEMG2_HUMAN	H	292	ENSP00000361855:R292H	ENSP00000361855:R292H	R	+	2	0	SEMG2	43284562	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.964000	0.03833	-0.275000	0.09219	-0.194000	0.12790	CGT	SEMG2	-	pfam_Semenogelin	ENSG00000124157		0.398	SEMG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMG2	HGNC	protein_coding	OTTHUMT00000079417.1	-	0.00	17	0	G	NM_003008		43851148	+1	tier1	rs145586123	no_errors	ENST00000372769	ensembl	human	known	74_37	missense	30.56	25	11	SNP	0.000	A
SENP3	26168	genome.wustl.edu	37	17	7475229	7475232	+	3'UTR	DEL	AAAT	AAAT	-	rs71361407|rs12452635|rs571416770|rs201331151|rs60385651		TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	AAAT	AAAT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr17:7475229_7475232delAAAT	ENST00000429205.2	+	0	2164_2167				EIF4A1_ENST00000582746.1_5'Flank|EIF4A1_ENST00000380512.5_5'Flank|EIF4A1_ENST00000577269.1_5'Flank|SNORA48_ENST00000386847.1_RNA|SENP3-EIF4A1_ENST00000579777.1_RNA|EIF4A1_ENST00000293831.8_5'Flank|SENP3_ENST00000578868.1_3'UTR			Q9H4L4	SENP3_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 3							cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)	cysteine-type peptidase activity (GO:0008234)			central_nervous_system(1)|ovary(1)	2		Prostate(122;0.157)				atatatataaaaatatataAATGC	0.265																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AK000923	CCDS73958.1	17p13	2012-05-02	2005-08-17			ENSG00000161956			17862	protein-coding gene	gene with protein product		612844	"""SUMO1/sentrin/SMT3 specific protease 3"""			10806345, 11230166	Standard	NM_015670		Approved	DKFZP586K0919, SSP3, DKFZp762A152, SMT3IP1, Ulp1	uc002ghm.3	Q9H4L4		ENST00000429205.2:c.*393AAAT>-	17.37:g.7475229_7475232delAAAT			Q66K15|Q86VS7|Q96PS4|Q9Y3W9	RNA	DEL	-	NULL	ENST00000429205.2	37	NULL		17																																																																																			SENP3	-	-	ENSG00000161956		0.265	SENP3-202	KNOWN	basic|appris_candidate_longest	protein_coding	SENP3	HGNC	protein_coding			0.00	29	0	AAAT	NM_015670		7475232	+1	tier1		no_errors	ENST00000578868	ensembl	human	known	74_37	rna	35.71	18	10	DEL	0.927:0.933:0.939:0.946	-
SETD4	54093	genome.wustl.edu	37	21	37408484	37408484	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr21:37408484C>A	ENST00000399215.1	-	10	2626	c.1254G>T	c.(1252-1254)tgG>tgT	p.W418C	SETD4_ENST00000481477.1_5'UTR|SETD4_ENST00000332131.4_Missense_Mutation_p.W418C|AP000688.1_ENST00000600312.1_Intron|SETD4_ENST00000399212.1_Missense_Mutation_p.W394C			Q9NVD3	SETD4_HUMAN	SET domain containing 4	418				EILVKYLPSTDKQMDKKISILKDHGYIENLTFGWDGPSWRL LTALKLLCLEAEKFTCWKKVLLGEVISDTNEKTSLDIAQKI CYYFIEETNAVLQKVSHMKDEKEALINQLTLVESLWTEELK ILRASAETLHSLQTAFT -> GWNQLCS (in Ref. 5; AAH02898). {ECO:0000305}.			methyltransferase activity (GO:0008168)			autonomic_ganglia(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	15						GCTCTTCCGTCCACAAGGATT	0.418																																																	0													140.0	140.0	140.0					21																	37408484		2203	4300	6503	SO:0001583	missense	0			AK001660	CCDS13640.1, CCDS42923.1, CCDS74791.1, CCDS74792.1	21q22.13	2006-02-15	2006-02-15	2006-02-15	ENSG00000185917	ENSG00000185917			1258	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 27"", ""chromosome 21 open reading frame 18"""	C21orf27, C21orf18			Standard	XM_005261000		Approved		uc021wiy.1	Q9NVD3	OTTHUMG00000086483	ENST00000399215.1:c.1254G>T	21.37:g.37408484C>A	ENSP00000382163:p.Trp418Cys		B4DT14|D3DSG2|D3DSG4|Q8NE19|Q9BU46	Missense_Mutation	SNP	pfam_Rubisco_LSMT_subst-bd,pfam_SET_dom,pirsf_Lys_MTase_YDR198C_prd	p.W418C	ENST00000399215.1	37	c.1254	CCDS13640.1	21	.	.	.	.	.	.	.	.	.	.	C	11.10	1.538151	0.27475	.	.	ENSG00000185917	ENST00000399215;ENST00000399212;ENST00000332131	T;T;T	0.16897	2.31;2.31;2.31	5.57	3.75	0.43078	Rubisco LS methyltransferase, substrate-binding domain (1);	0.261603	0.34628	N	0.003819	T	0.20941	0.0504	L	0.47716	1.5	0.80722	D	1	D;D	0.61697	0.988;0.99	P;P	0.56788	0.707;0.806	T	0.11518	-1.0584	10	0.38643	T	0.18	0.5295	1.482	0.02439	0.145:0.4607:0.1594:0.2349	.	394;418	Q9NVD3-3;Q9NVD3	.;SETD4_HUMAN	C	418;394;418	ENSP00000382163:W418C;ENSP00000382161:W394C;ENSP00000329189:W418C	ENSP00000329189:W418C	W	-	3	0	SETD4	36330354	0.002000	0.14202	0.697000	0.30258	0.047000	0.14425	0.456000	0.21859	1.347000	0.45714	0.563000	0.77884	TGG	SETD4	-	pfam_Rubisco_LSMT_subst-bd,pirsf_Lys_MTase_YDR198C_prd	ENSG00000185917		0.418	SETD4-005	KNOWN	basic|appris_principal|CCDS	protein_coding	SETD4	HGNC	protein_coding	OTTHUMT00000194456.1	-	0.00	71	0	C	NM_017438		37408484	-1	tier1	-	no_errors	ENST00000332131	ensembl	human	known	74_37	missense	51.61	30	32	SNP	0.343	A
SI	6476	genome.wustl.edu	37	3	164764732	164764732	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr3:164764732C>A	ENST00000264382.3	-	16	1846	c.1784G>T	c.(1783-1785)gGa>gTa	p.G595V		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	595	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)	AGCATGTCTTCCAGATCCAGC	0.368										HNSCC(35;0.089)																																							0													87.0	83.0	84.0					3																	164764732		2203	4300	6503	SO:0001583	missense	0			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.1784G>T	3.37:g.164764732C>A	ENSP00000264382:p.Gly595Val		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil	p.G595V	ENST00000264382.3	37	c.1784	CCDS3196.1	3	.	.	.	.	.	.	.	.	.	.	C	23.4	4.412322	0.83340	.	.	ENSG00000090402	ENST00000264382	D	0.92099	-2.97	5.36	5.36	0.76844	Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.97967	0.9331	H	0.98965	4.385	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99667	1.0995	10	0.87932	D	0	.	18.0712	0.89407	0.0:1.0:0.0:0.0	.	595	P14410	SUIS_HUMAN	V	595	ENSP00000264382:G595V	ENSP00000264382:G595V	G	-	2	0	SI	166247426	1.000000	0.71417	0.142000	0.22268	0.983000	0.72400	7.356000	0.79445	2.519000	0.84933	0.467000	0.42956	GGA	SI	-	pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF	ENSG00000090402		0.368	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SI	HGNC	protein_coding	OTTHUMT00000350116.1		0.00	39	0	C	NM_001041		164764732	-1			no_errors	ENST00000264382	ensembl	human	known	74_37	missense	5.26	36	2	SNP	0.998	A
SLC12A4	6560	genome.wustl.edu	37	16	67981292	67981292	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr16:67981292C>T	ENST00000316341.3	-	16	2154	c.2014G>A	c.(2014-2016)Gct>Act	p.A672T	SLC12A4_ENST00000422611.2_Missense_Mutation_p.A674T|SLC12A4_ENST00000572037.1_Missense_Mutation_p.A624T|CTC-479C5.17_ENST00000590594.1_lincRNA|SLC12A4_ENST00000541864.2_Missense_Mutation_p.A641T|SLC12A4_ENST00000338335.3_Missense_Mutation_p.A672T|SLC12A4_ENST00000537830.2_Missense_Mutation_p.A666T|SLC12A4_ENST00000576616.1_Missense_Mutation_p.A672T	NM_001145961.1|NM_005072.4	NP_001139433.1|NP_005063.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	672					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)	TAGCGGGCAGCGCTCAGGGAC	0.672																																																	0													42.0	52.0	49.0					16																	67981292		2195	4299	6494	SO:0001583	missense	0				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.2014G>A	16.37:g.67981292C>T	ENSP00000318557:p.Ala672Thr		B4DF69|B4DR04|B4DZ82|B7ZAV0|F5H066|F5H0S9|F5H3C0|O60632|O75893|Q13953|Q96LD5	Missense_Mutation	SNP	pfam_AA-permease/SLC12A_dom,pfam_K/Cl_cotranspt_1/3,prints_KCL_cotranspt,prints_K/Cl_cotranspt1,tigrfam_Na/K/Cl_cotransptS	p.A674T	ENST00000316341.3	37	c.2020	CCDS10855.1	16	.	.	.	.	.	.	.	.	.	.	C	21.8	4.198863	0.79015	.	.	ENSG00000124067	ENST00000422611;ENST00000541864;ENST00000537830;ENST00000338335;ENST00000316341	D;D;D;D;D	0.98531	-4.98;-4.98;-4.98;-4.98;-4.98	5.76	5.76	0.90799	Amino acid permease domain (1);	0.048935	0.85682	D	0.000000	D	0.96852	0.8972	N	0.25485	0.75	0.80722	D	1	P;P;D;B;B;P	0.58620	0.479;0.644;0.983;0.448;0.255;0.807	B;B;P;B;B;B	0.51999	0.175;0.217;0.687;0.137;0.112;0.411	D	0.95287	0.8391	10	0.13108	T	0.6	.	19.9738	0.97296	0.0:1.0:0.0:0.0	.	674;672;641;666;672;672	F5H3C0;B4DF30;F5H066;F5H0S9;Q9UP95-2;Q9UP95	.;.;.;.;.;S12A4_HUMAN	T	674;641;666;672;672	ENSP00000395983:A674T;ENSP00000438334:A641T;ENSP00000445962:A666T;ENSP00000343374:A672T;ENSP00000318557:A672T	ENSP00000318557:A672T	A	-	1	0	SLC12A4	66538793	1.000000	0.71417	0.493000	0.27502	0.339000	0.28857	7.768000	0.85345	2.732000	0.93576	0.655000	0.94253	GCT	SLC12A4	-	pfam_AA-permease/SLC12A_dom,tigrfam_Na/K/Cl_cotransptS	ENSG00000124067		0.672	SLC12A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC12A4	HGNC	protein_coding	OTTHUMT00000268864.4	-	0.00	13	0	C	NM_005072		67981292	-1	tier1	-	no_errors	ENST00000422611	ensembl	human	known	74_37	missense	31.58	13	6	SNP	1.000	T
SLC18A2	6571	genome.wustl.edu	37	10	119017399	119017399	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr10:119017399G>T	ENST00000298472.5	+	10	1130	c.987G>T	c.(985-987)caG>caT	p.Q329H	SLC18A2_ENST00000497497.1_3'UTR	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	329					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)	GAAAGTGGCAGCTGGGTAAGG	0.577																																																	0													65.0	58.0	60.0					10																	119017399		2203	4300	6503	SO:0001583	missense	0			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.987G>T	10.37:g.119017399G>T	ENSP00000298472:p.Gln329His		B2RC96|D3DRC4|Q15876|Q4G147|Q5VW49|Q9H3P6	Missense_Mutation	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.Q329H	ENST00000298472.5	37	c.987	CCDS7599.1	10	.	.	.	.	.	.	.	.	.	.	G	15.13	2.741493	0.49151	.	.	ENSG00000165646	ENST00000298472	T	0.59224	0.28	5.94	4.1	0.47936	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.116604	0.64402	D	0.000013	T	0.66147	0.2760	M	0.89534	3.04	0.49582	D	0.999805	B	0.23249	0.082	B	0.36608	0.229	T	0.62793	-0.6779	10	0.19590	T	0.45	-15.2239	10.4493	0.44513	0.2396:0.0:0.7604:0.0	.	329	Q05940	VMAT2_HUMAN	H	329	ENSP00000298472:Q329H	ENSP00000298472:Q329H	Q	+	3	2	SLC18A2	119007389	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	1.326000	0.33735	1.541000	0.49316	0.644000	0.83932	CAG	SLC18A2	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000165646		0.577	SLC18A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC18A2	HGNC	protein_coding	OTTHUMT00000050563.1	-	0.00	62	0	G	NM_003054		119017399	+1	tier1	-	no_errors	ENST00000298472	ensembl	human	known	74_37	missense	10.81	33	4	SNP	1.000	T
SLC22A1	6580	genome.wustl.edu	37	6	160543205	160543205	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr6:160543205G>A	ENST00000366963.4	+	1	385	c.238G>A	c.(238-240)Gcg>Acg	p.A80T	SLC22A1_ENST00000324965.4_Missense_Mutation_p.A80T|SLC22A1_ENST00000457470.2_Missense_Mutation_p.A80T	NM_003057.2|NM_153187.1	NP_003048.1|NP_694857.1	O15245	S22A1_HUMAN	solute carrier family 22 (organic cation transporter), member 1	80					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)	CCTGGGGCCCGCGGGCGAGGC	0.662																																																	0													40.0	48.0	45.0					6																	160543205		2203	4300	6503	SO:0001583	missense	0			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.238G>A	6.37:g.160543205G>A	ENSP00000355930:p.Ala80Thr		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.A80T	ENST00000366963.4	37	c.238	CCDS5274.1	6	.	.	.	.	.	.	.	.	.	.	G	0.479	-0.880826	0.02530	.	.	ENSG00000175003	ENST00000366963;ENST00000324965;ENST00000457470	T;T;T	0.74315	-0.66;-0.83;-0.82	5.5	-1.39	0.08997	.	1.141820	0.06304	N	0.701367	T	0.26955	0.0660	N	0.19112	0.55	0.09310	N	1	B;B	0.14012	0.009;0.006	B;B	0.13407	0.009;0.009	T	0.03728	-1.1009	10	0.13470	T	0.59	.	1.5551	0.02583	0.2171:0.2572:0.3491:0.1767	.	80;80	O15245-2;O15245	.;S22A1_HUMAN	T	80	ENSP00000355930:A80T;ENSP00000318103:A80T;ENSP00000409557:A80T	ENSP00000318103:A80T	A	+	1	0	SLC22A1	160463195	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.088000	0.11198	-0.534000	0.06315	-1.367000	0.01198	GCG	SLC22A1	-	tigrfam_Orgcat_transp	ENSG00000175003		0.662	SLC22A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A1	HGNC	protein_coding	OTTHUMT00000042938.2	-	0.00	60	0	G			160543205	+1	tier1	-	no_errors	ENST00000366963	ensembl	human	known	74_37	missense	50.00	24	24	SNP	0.000	A
SLC25A5	292	genome.wustl.edu	37	X	118603756	118603756	+	Missense_Mutation	SNP	T	T	A			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chrX:118603756T>A	ENST00000317881.8	+	2	360	c.244T>A	c.(244-246)Ttc>Atc	p.F82I	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	82					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)	CATCAGATACTTCCCCACCCA	0.493																																																	0													122.0	118.0	120.0					X																	118603756		2203	4300	6503	SO:0001583	missense	0			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.244T>A	X.37:g.118603756T>A	ENSP00000360671:p.Phe82Ile		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.F82I	ENST00000317881.8	37	c.244	CCDS14578.1	X	.	.	.	.	.	.	.	.	.	.	T	21.4	4.146439	0.77888	.	.	ENSG00000005022	ENST00000317881	T	0.78003	-1.14	4.18	4.18	0.49190	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	T	0.81791	0.4897	M	0.83483	2.645	0.80722	D	1	P	0.47302	0.893	P	0.46718	0.525	D	0.84987	0.0892	10	0.87932	D	0	.	12.1849	0.54231	0.0:0.0:0.0:1.0	.	82	P05141	ADT2_HUMAN	I	82	ENSP00000360671:F82I	ENSP00000360671:F82I	F	+	1	0	SLC25A5	118487784	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.562000	0.82300	1.622000	0.50330	0.430000	0.28490	TTC	SLC25A5	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	ENSG00000005022		0.493	SLC25A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A5	HGNC	protein_coding	OTTHUMT00000058952.2		0.00	22	0	T	NM_001152		118603756	+1			no_errors	ENST00000317881	ensembl	human	known	74_37	missense	13.79	25	4	SNP	1.000	A
SLC39A12	221074	genome.wustl.edu	37	10	18267003	18267003	+	Splice_Site	SNP	G	G	T			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr10:18267003G>T	ENST00000377369.2	+	5	1197	c.924G>T	c.(922-924)caG>caT	p.Q308H	SLC39A12_ENST00000539911.1_Splice_Site_p.Q174H|SLC39A12_ENST00000377374.4_Splice_Site_p.Q308H|SLC39A12_ENST00000377371.3_Splice_Site_p.Q308H	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	308					regulation of microtubule polymerization (GO:0031113)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)|zinc ion transmembrane import (GO:0071578)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	zinc ion transmembrane transporter activity (GO:0005385)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						CCTGGGATCAGGTATTGCCAT	0.368																																																	0													66.0	66.0	66.0					10																	18267003		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS7124.1, CCDS44362.1, CCDS60493.1, CCDS60494.1	10p12.33	2013-05-22			ENSG00000148482	ENSG00000148482		"""Solute carriers"""	20860	protein-coding gene	gene with protein product		608734	"""solute carrier family 39 (metal ion transporter), member 12"""			12659941	Standard	NM_152725		Approved	FLJ30499	uc001ipo.2	Q504Y0	OTTHUMG00000017759	ENST00000377369.2:c.924+1G>T	10.37:g.18267003G>T			B7ZL35|C9JJL4|Q49AN8|Q4G0L3|Q5VWV8|Q5VWV9|Q6NZY5|Q96NN4	Missense_Mutation	SNP	pfam_ZIP	p.Q308H	ENST00000377369.2	37	c.924	CCDS44362.1	10	.	.	.	.	.	.	.	.	.	.	G	12.89	2.072006	0.36566	.	.	ENSG00000148482	ENST00000377369;ENST00000377374;ENST00000377371;ENST00000539911;ENST00000425219	T;T;T;T	0.63580	0.1;-0.05;0.11;0.0	4.72	4.72	0.59763	.	1.458410	0.04119	N	0.315961	T	0.80954	0.4723	M	0.74881	2.28	0.45718	D	0.998627	D;P;B	0.76494	0.999;0.696;0.204	D;B;B	0.71414	0.973;0.338;0.076	T	0.66964	-0.5790	10	0.38643	T	0.18	-4.3525	14.8805	0.70528	0.0:0.0:1.0:0.0	.	308;308;308	Q504Y0-4;Q504Y0;Q504Y0-3	.;S39AC_HUMAN;.	H	308;308;308;174;228	ENSP00000366586:Q308H;ENSP00000366591:Q308H;ENSP00000366588:Q308H;ENSP00000440445:Q174H	ENSP00000366586:Q308H	Q	+	3	2	SLC39A12	18307009	1.000000	0.71417	1.000000	0.80357	0.515000	0.34225	4.711000	0.61881	2.618000	0.88619	0.650000	0.86243	CAG	SLC39A12	-	NULL	ENSG00000148482		0.368	SLC39A12-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC39A12	HGNC	protein_coding		-	0.00	58	0	G	NM_152725	Missense_Mutation	18267003	+1	tier1	-	no_errors	ENST00000377369	ensembl	human	known	74_37	missense	7.55	49	4	SNP	1.000	T
SLC5A2	6524	genome.wustl.edu	37	16	31500047	31500047	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr16:31500047C>T	ENST00000330498.3	+	10	1253	c.1234C>T	c.(1234-1236)Cgc>Tgc	p.R412C	AC026471.6_ENST00000565137.1_RNA	NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2	412					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)	CATCTACACGCGCCTGCGGCC	0.706																																																	0													21.0	19.0	19.0					16																	31500047		2193	4298	6491	SO:0001583	missense	0				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.1234C>T	16.37:g.31500047C>T	ENSP00000327943:p.Arg412Cys		A2RRD2	Missense_Mutation	SNP	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.R412C	ENST00000330498.3	37	c.1234	CCDS10714.1	16	.	.	.	.	.	.	.	.	.	.	C	15.05	2.717072	0.48622	.	.	ENSG00000140675	ENST00000330498	D	0.88509	-2.39	4.7	3.69	0.42338	.	0.000000	0.85682	D	0.000000	D	0.88466	0.6444	M	0.85777	2.775	0.80722	D	1	B	0.19935	0.04	B	0.19148	0.024	D	0.87335	0.2327	10	0.62326	D	0.03	.	9.4615	0.38787	0.314:0.686:0.0:0.0	.	412	P31639	SC5A2_HUMAN	C	412	ENSP00000327943:R412C	ENSP00000327943:R412C	R	+	1	0	SLC5A2	31407548	0.001000	0.12720	0.968000	0.41197	0.824000	0.46624	0.095000	0.15127	2.453000	0.82957	0.561000	0.74099	CGC	SLC5A2	-	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	ENSG00000140675		0.706	SLC5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A2	HGNC	protein_coding	OTTHUMT00000255627.2	-	0.00	38	0	C			31500047	+1	tier1	-	no_errors	ENST00000330498	ensembl	human	known	74_37	missense	40.74	16	11	SNP	0.810	T
SLC7A7	9056	genome.wustl.edu	37	14	23248143	23248143	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr14:23248143G>T	ENST00000397532.3	-	4	1154	c.629C>A	c.(628-630)gCc>gAc	p.A210D	SLC7A7_ENST00000554517.1_5'UTR|SLC7A7_ENST00000285850.7_Missense_Mutation_p.A210D|SLC7A7_ENST00000397529.2_Missense_Mutation_p.A210D|SLC7A7_ENST00000554061.1_5'UTR|SLC7A7_ENST00000555702.1_Missense_Mutation_p.A210D|SLC7A7_ENST00000397528.4_Missense_Mutation_p.A210D			Q9UM01	YLAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, y+L system), member 7	210					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|protein complex assembly (GO:0006461)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.00741)		ATGAGTAGAGGCTCCTGGAAC	0.463																																																	0													72.0	69.0	70.0					14																	23248143		2203	4300	6503	SO:0001583	missense	0			AF092032	CCDS9574.1	14q11.2	2014-09-17	2011-07-12		ENSG00000155465	ENSG00000155465		"""Solute carriers"""	11065	protein-coding gene	gene with protein product		603593		LPI		9829974	Standard	NM_001126106		Approved	y+LAT-1	uc001wgs.4	Q9UM01	OTTHUMG00000028692	ENST00000397532.3:c.629C>A	14.37:g.23248143G>T	ENSP00000380666:p.Ala210Asp		B2RAU0|D3DS26|O95984|Q53XC1|Q86U07|Q9P2V5	Missense_Mutation	SNP	pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1	p.A210D	ENST00000397532.3	37	c.629	CCDS9574.1	14	.	.	.	.	.	.	.	.	.	.	G	10.59	1.391651	0.25118	.	.	ENSG00000155465	ENST00000285850;ENST00000555702;ENST00000397532;ENST00000404278;ENST00000397529;ENST00000397528	D;D;D;D;D	0.90069	-2.61;-2.61;-2.61;-2.61;-2.61	4.76	2.65	0.31530	Amino acid permease domain (1);	1.110600	0.06790	N	0.786788	T	0.79673	0.4486	N	0.12961	0.28	0.80722	D	1	B	0.19935	0.04	B	0.25759	0.063	T	0.67166	-0.5739	10	0.26408	T	0.33	.	6.406	0.21664	0.0:0.1357:0.4406:0.4237	.	210	Q9UM01	YLAT1_HUMAN	D	210;210;210;183;210;210	ENSP00000285850:A210D;ENSP00000451881:A210D;ENSP00000380666:A210D;ENSP00000380663:A210D;ENSP00000380662:A210D	ENSP00000285850:A210D	A	-	2	0	SLC7A7	22317983	1.000000	0.71417	0.903000	0.35520	0.882000	0.50991	1.735000	0.38176	0.951000	0.37770	0.561000	0.74099	GCC	SLC7A7	-	pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1	ENSG00000155465		0.463	SLC7A7-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC7A7	HGNC	protein_coding	OTTHUMT00000071636.3	-	0.00	46	0	G			23248143	-1	tier1	-	no_errors	ENST00000285850	ensembl	human	known	74_37	missense	5.48	69	4	SNP	0.902	T
SLITRK5	26050	genome.wustl.edu	37	13	88327779	88327779	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr13:88327779G>A	ENST00000325089.6	+	2	355	c.136G>A	c.(136-138)Gaa>Aaa	p.E46K	SLITRK5_ENST00000400028.3_Intron	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	46					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)					TTATTATGGGGAAATCTGTGA	0.463																																																	0													170.0	144.0	153.0					13																	88327779		2203	4300	6503	SO:0001583	missense	0			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.136G>A	13.37:g.88327779G>A	ENSP00000366283:p.Glu46Lys		B3KNB8|B4DSH5|Q5VT81	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.E46K	ENST00000325089.6	37	c.136	CCDS9465.1	13	.	.	.	.	.	.	.	.	.	.	G	18.43	3.623099	0.66901	.	.	ENSG00000165300	ENST00000325089	T	0.60040	0.22	5.94	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.59266	0.2181	N	0.16743	0.435	0.80722	D	1	D	0.71674	0.998	D	0.68765	0.96	T	0.58929	-0.7549	9	.	.	.	-8.6791	14.0621	0.64806	0.0:0.0:0.848:0.152	.	46	O94991	SLIK5_HUMAN	K	46	ENSP00000366283:E46K	.	E	+	1	0	SLITRK5	87125780	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.876000	0.87215	1.483000	0.48342	0.561000	0.74099	GAA	SLITRK5	-	NULL	ENSG00000165300		0.463	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK5	HGNC	protein_coding	OTTHUMT00000045416.3	-	0.00	38	0	G			88327779	+1	tier1	-	no_errors	ENST00000325089	ensembl	human	known	74_37	missense	29.03	22	9	SNP	1.000	A
SMG8	55181	genome.wustl.edu	37	17	57288948	57288948	+	Missense_Mutation	SNP	G	G	C			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr17:57288948G>C	ENST00000543872.2	+	2	1800	c.1536G>C	c.(1534-1536)caG>caC	p.Q512H	CTD-2510F5.6_ENST00000577660.1_Intron|SMG8_ENST00000578922.1_Missense_Mutation_p.Q512H|SMG8_ENST00000580498.1_Intron|SMG8_ENST00000300917.5_Missense_Mutation_p.Q512H			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	512					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						GTGCCTACCAGTCAAATTTGC	0.418																																																	0													83.0	76.0	78.0					17																	57288948		2203	4300	6503	SO:0001583	missense	0			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.1536G>C	17.37:g.57288948G>C	ENSP00000438748:p.Gln512His		Q8N5U5|Q8TDN0|Q9H5P5|Q9NVQ1	Missense_Mutation	SNP	pfam_Smg8/Smg9	p.Q512H	ENST00000543872.2	37	c.1536	CCDS11615.1	17	.	.	.	.	.	.	.	.	.	.	G	19.75	3.885001	0.72410	.	.	ENSG00000167447	ENST00000300917;ENST00000543872	T;T	0.49139	0.79;0.79	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.65575	0.2704	L	0.52759	1.655	0.80722	D	1	D	0.67145	0.996	D	0.79108	0.992	T	0.66256	-0.5969	10	0.87932	D	0	-11.5279	18.9389	0.92597	0.0:0.0:1.0:0.0	.	512	Q8ND04	SMG8_HUMAN	H	512	ENSP00000300917:Q512H;ENSP00000438748:Q512H	ENSP00000300917:Q512H	Q	+	3	2	SMG8	54643730	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.757000	0.68766	2.705000	0.92388	0.655000	0.94253	CAG	SMG8	-	pfam_Smg8/Smg9	ENSG00000167447		0.418	SMG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMG8	HGNC	protein_coding	OTTHUMT00000445960.2	-	0.00	38	0	G	NM_018149		57288948	+1	tier1	-	no_errors	ENST00000300917	ensembl	human	known	74_37	missense	12.96	47	7	SNP	1.000	C
SNAP25	6616	genome.wustl.edu	37	20	10287451	10287452	+	3'UTR	DEL	AC	AC	-	rs145069282	byFrequency	TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	AC	AC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr20:10287451_10287452delAC	ENST00000254976.2	+	0	1438_1439				SNAP25_ENST00000495883.1_3'UTR|SNAP25-AS1_ENST00000453544.1_RNA|SNAP25_ENST00000304886.2_3'UTR|SNAP25-AS1_ENST00000421143.2_RNA	NM_130811.2	NP_570824.1	P60880	SNP25_HUMAN	synaptosomal-associated protein, 25kDa						energy reserve metabolic process (GO:0006112)|glutamate secretion (GO:0014047)|long-term synaptic potentiation (GO:0060291)|neurotransmitter secretion (GO:0007269)|neurotransmitter uptake (GO:0001504)|regulation of establishment of protein localization (GO:0070201)|regulation of insulin secretion (GO:0050796)|regulation of neuron projection development (GO:0010975)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|growth cone (GO:0030426)|membrane (GO:0016020)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|SNARE complex (GO:0031201)|synaptobrevin 2-SNAP-25-syntaxin-1a-complexin I complex (GO:0070032)|trans-Golgi network (GO:0005802)	calcium-dependent protein binding (GO:0048306)			endometrium(1)|large_intestine(2)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	18					Botulinum Toxin Type A(DB00083)	TGATGAGACAACACACACACAC	0.347														16	0.00319489	0.0053	0.0029	5008	,	,		20483	0.002		0.004	False		,,,				2504	0.001																0																																										SO:0001624	3_prime_UTR_variant	0				CCDS13109.1, CCDS13110.1	20p12-p11.2	2008-08-01	2002-08-29		ENSG00000132639	ENSG00000132639			11132	protein-coding gene	gene with protein product	"""resistance to inhibitors of cholinesterase 4 homolog"""	600322	"""synaptosomal-associated protein, 25kD"""	SNAP		8661740, 10692432	Standard	NM_003081		Approved	SNAP-25, RIC-4, RIC4, SEC9, bA416N4.2, dJ1068F16.2	uc002wnr.2	P60880	OTTHUMG00000031863	ENST00000254976.2:c.*607AC>-	20.37:g.10287461_10287462delAC			B2RAU4|D3DW16|D3DW17|P13795|P36974|P70557|P70558|Q53EM2|Q5U0B5|Q8IXK3|Q96FM2|Q9BR45	RNA	DEL	-	NULL	ENST00000254976.2	37	NULL	CCDS13110.1	20																																																																																			SNAP25	-	-	ENSG00000132639		0.347	SNAP25-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SNAP25	HGNC	protein_coding	OTTHUMT00000077976.3		0.00	29	0	AC	NM_130811		10287452	+1	tier1		no_errors	ENST00000495883	ensembl	human	known	74_37	rna	10.20	44	5	DEL	0.884:0.856	-
SNX33	257364	genome.wustl.edu	37	15	75942735	75942736	+	Frame_Shift_Ins	INS	-	-	C			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr15:75942735_75942736insC	ENST00000308527.5	+	1	2489_2490	c.1292_1293insC	c.(1291-1296)gaccccfs	p.DP431fs	IMP3_ENST00000314852.2_5'Flank|IMP3_ENST00000565349.1_5'Flank	NM_153271.1	NP_695003.1	Q8WV41	SNX33_HUMAN	sorting nexin 33	431	BAR.				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						TTCCAGATGGACCCCCCCTTTT	0.569																																																	0																																										SO:0001589	frameshift_variant	0			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.1299dupC	15.37:g.75942742_75942742dupC	ENSP00000311427:p.Asp431fs		B1NM17	Frame_Shift_Ins	INS	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.F434fs	ENST00000308527.5	37	c.1292_1293	CCDS10283.1	15																																																																																			SNX33	-	pfam_Sorting_nexin_WASP-bd-dom,pirsf_Snx9	ENSG00000173548		0.569	SNX33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX33	HGNC	protein_coding	OTTHUMT00000286471.1		0.00	41	0	-	NM_153271		75942736	+1	tier1		no_errors	ENST00000308527	ensembl	human	known	74_37	frame_shift_ins	12.90	27	4	INS	1.000:1.000	C
SORBS2	8470	genome.wustl.edu	37	4	186598448	186598448	+	Intron	SNP	G	G	T			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr4:186598448G>T	ENST00000284776.7	-	4	465				SORBS2_ENST00000431808.1_Intron|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000448662.2_Intron|RP11-626E13.1_ENST00000447277.1_RNA|SORBS2_ENST00000355634.5_Intron|SORBS2_ENST00000437304.2_Silent_p.T65T|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000449407.2_Intron	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2						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)		TTAGTTTCAAGGTAGAAATCC	0.483																																					Esophageal Squamous(153;41 2433 9491 36028)												0													252.0	214.0	226.0					4																	186598448		692	1591	2283	SO:0001627	intron_variant	0				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.44+1128C>A	4.37:g.186598448G>T			A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Silent	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.T65	ENST00000284776.7	37	c.195	CCDS3845.1	4																																																																																			SORBS2	-	NULL	ENSG00000154556		0.483	SORBS2-001	KNOWN	basic|CCDS	protein_coding	SORBS2	HGNC	protein_coding	OTTHUMT00000347944.3		0.00	23	0	G	NM_003603		186598448	-1			no_errors	ENST00000437304	ensembl	human	putative	74_37	silent	7.69	24	2	SNP	0.996	T
SPACA3	124912	genome.wustl.edu	37	17	31324878	31324878	+	3'UTR	SNP	A	A	T			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr17:31324878A>T	ENST00000269053.3	+	0	800				SPACA3_ENST00000394637.2_3'UTR|SPACA3_ENST00000394638.1_3'UTR|SPACA3_ENST00000580599.1_3'UTR	NM_173847.3	NP_776246.1	Q8IXA5	SACA3_HUMAN	sperm acrosome associated 3						cell wall macromolecule catabolic process (GO:0016998)|defense response to Gram-positive bacterium (GO:0050830)|monocyte activation (GO:0042117)|peptidoglycan catabolic process (GO:0009253)|positive regulation of macrophage activation (GO:0043032)|positive regulation of phagocytosis (GO:0050766)|response to virus (GO:0009615)|sperm-egg recognition (GO:0035036)	acrosomal vesicle (GO:0001669)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|secretory granule (GO:0030141)	lysozyme activity (GO:0003796)			breast(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(9;0.193)			CAGCGAATAAAGGATGGTTGA	0.542																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF216311, AF099029	CCDS11275.1	17q12	2014-07-23			ENSG00000141316	ENSG00000141316			16260	protein-coding gene	gene with protein product	"""cancer/testis antigen 54"", ""sperm lyzozyme-like acrosomal protein 1"""	612749				12606493	Standard	NM_173847		Approved	ALLP17, SLLP1, LYC3, LYZL3, CT54	uc002hhs.1	Q8IXA5	OTTHUMG00000132886	ENST00000269053.3:c.*82A>T	17.37:g.31324878A>T			Q7Z4Y5	RNA	SNP	-	NULL	ENST00000269053.3	37	NULL	CCDS11275.1	17																																																																																			SPACA3	-	-	ENSG00000141316		0.542	SPACA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPACA3	HGNC	protein_coding	OTTHUMT00000256380.1	-	0.00	17	0	A	NM_173847		31324878	+1	tier1	-	no_errors	ENST00000394637	ensembl	human	known	74_37	rna	35.00	13	7	SNP	0.599	T
SPATA18	132671	genome.wustl.edu	37	4	52948682	52948682	+	Intron	SNP	G	G	A			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr4:52948682G>A	ENST00000295213.4	+	10	1853				SPATA18_ENST00000419395.2_Intron	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18						cellular response to DNA damage stimulus (GO:0006974)|mitochondrial protein catabolic process (GO:0035694)|mitochondrion degradation by induced vacuole formation (GO:0035695)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial outer membrane (GO:0005741)				breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			CTTTTGTACGGTGGCCTTGCA	0.433																																																	0													129.0	122.0	125.0					4																	52948682		2203	4300	6503	SO:0001627	intron_variant	0			BC025396	CCDS3489.1, CCDS75124.1	4q11	2012-01-23	2012-01-23		ENSG00000163071	ENSG00000163071			29579	protein-coding gene	gene with protein product		612814	"""spermatogenesis associated 18 homolog (rat)"""			21300779	Standard	XR_245253		Approved	FLJ32906	uc003gzl.3	Q8TC71	OTTHUMG00000128698	ENST00000295213.4:c.1479+6G>A	4.37:g.52948682G>A			B4E2R0|E5RLK1|Q8IY48|Q8N7D7	Silent	SNP	NULL	p.R495	ENST00000295213.4	37	c.1485	CCDS3489.1	4																																																																																			SPATA18	-	NULL	ENSG00000163071		0.433	SPATA18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA18	HGNC	protein_coding	OTTHUMT00000250597.2	-	0.00	42	0	G	NM_145263		52948682	+1	tier1	-	no_errors	ENST00000505320	ensembl	human	known	74_37	silent	39.02	25	16	SNP	1.000	A
SPTA1	6708	genome.wustl.edu	37	1	158621225	158621225	+	Missense_Mutation	SNP	T	T	A	rs536551499		TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr1:158621225T>A	ENST00000368147.4	-	24	3589	c.3409A>T	c.(3409-3411)Atc>Ttc	p.I1137F		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1137					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)					ACCTTGTTGATATCCCTTAGC	0.433																																																	0													222.0	218.0	219.0					1																	158621225		1871	4101	5972	SO:0001583	missense	0			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.3409A>T	1.37:g.158621225T>A	ENSP00000357129:p.Ile1137Phe		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_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3	p.I1137F	ENST00000368147.4	37	c.3409	CCDS41423.1	1	.	.	.	.	.	.	.	.	.	.	T	25.4	4.631042	0.87660	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.56611	0.45;0.45	4.66	4.66	0.58398	.	.	.	.	.	T	0.61565	0.2357	M	0.69823	2.125	0.53005	D	0.999963	D	0.63046	0.992	D	0.65684	0.937	T	0.65602	-0.6128	9	0.54805	T	0.06	.	13.3826	0.60778	0.0:0.0:0.0:1.0	.	1137	P02549	SPTA1_HUMAN	F	1137	ENSP00000357130:I1137F;ENSP00000357129:I1137F	ENSP00000357129:I1137F	I	-	1	0	SPTA1	156887849	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.331000	0.65905	2.081000	0.62600	0.533000	0.62120	ATC	SPTA1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000163554		0.433	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTA1	HGNC	protein_coding	OTTHUMT00000051851.3	-	0.00	58	0	T	NM_003126		158621225	-1	tier1	-	no_errors	ENST00000368147	ensembl	human	known	74_37	missense	60.81	29	45	SNP	1.000	A
SRGAP1	57522	genome.wustl.edu	37	12	64474129	64474129	+	Silent	SNP	C	C	T			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr12:64474129C>T	ENST00000355086.3	+	10	1911	c.1387C>T	c.(1387-1389)Ctg>Ttg	p.L463L	SRGAP1_ENST00000357825.3_Silent_p.L463L|SRGAP1_ENST00000543397.1_Silent_p.L423L|RP11-196H14.2_ENST00000535594.1_RNA	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	463	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)		ACATGACTTGCTGCAGAGGAC	0.358																																																	0													67.0	62.0	64.0					12																	64474129		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1387C>T	12.37:g.64474129C>T			Q9H8A3|Q9P2P2	Silent	SNP	pfam_RhoGAP_dom,pfam_FCH_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Fuc/Ara_isomerase_C,smart_FCH_dom,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom	p.L463	ENST00000355086.3	37	c.1387	CCDS8967.1	12																																																																																			SRGAP1	-	NULL	ENSG00000196935		0.358	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SRGAP1	HGNC	protein_coding	OTTHUMT00000400896.1	-	0.00	48	0	C			64474129	+1	tier1	-	no_errors	ENST00000355086	ensembl	human	known	74_37	silent	5.88	64	4	SNP	1.000	T
STAG2	10735	genome.wustl.edu	37	X	123164976	123164977	+	Splice_Site	INS	-	-	T			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chrX:123164976_123164977insT	ENST00000371160.1	+	5	578		c.e5+1		STAG2_ENST00000371157.3_Splice_Site|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371144.3_Splice_Site|STAG2_ENST00000371145.3_Splice_Site|STAG2_ENST00000218089.9_Splice_Site|STAG2_ENST00000354548.5_Splice_Site	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2						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						TGCTATGCAGGTAAGATTTATG	0.342																																																	0																																										SO:0001630	splice_region_variant	0			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.288+1->T	X.37:g.123164977_123164977dupT			B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Splice_Site	INS	-	e3+1	ENST00000371160.1	37	c.288+1_288+1	CCDS14607.1	X																																																																																			STAG2	-	-	ENSG00000101972		0.342	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	STAG2	HGNC	protein_coding	OTTHUMT00000156159.2		0.00	41	0	-	NM_006603	Intron	123164977	+1	tier1		no_errors	ENST00000218089	ensembl	human	known	74_37	splice_site_ins	79.66	12	47	INS	1.000:1.000	T
STOX2	56977	genome.wustl.edu	37	4	184930364	184930364	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr4:184930364C>T	ENST00000308497.4	+	3	1808	c.373C>T	c.(373-375)Cgg>Tgg	p.R125W	STOX2_ENST00000438269.1_Missense_Mutation_p.R125W	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2	125					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)		CACGCTGGTACGGGAGAGGAA	0.433																																																	0													55.0	52.0	53.0					4																	184930364		1938	4164	6102	SO:0001583	missense	0			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.373C>T	4.37:g.184930364C>T	ENSP00000311257:p.Arg125Trp		A6H8U4|Q9NPS8	Missense_Mutation	SNP	pfam_Storkhead-box_winged-helix	p.R125W	ENST00000308497.4	37	c.373	CCDS47167.1	4	.	.	.	.	.	.	.	.	.	.	C	25.0	4.597543	0.87055	.	.	ENSG00000173320	ENST00000308497;ENST00000438269;ENST00000512520	T;T;T	0.78481	-1.18;-1.18;-1.18	5.55	4.69	0.59074	Storkhead-box protein, winged-helix domain (1);	0.000000	0.85682	D	0.000000	D	0.84383	0.5460	L	0.46157	1.445	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.86319	0.1691	10	0.87932	D	0	-18.0413	15.7836	0.78286	0.1371:0.8629:0.0:0.0	.	125	Q9P2F5	STOX2_HUMAN	W	125;125;63	ENSP00000311257:R125W;ENSP00000390127:R125W;ENSP00000425388:R63W	ENSP00000311257:R125W	R	+	1	2	STOX2	185167358	0.998000	0.40836	0.950000	0.38849	0.988000	0.76386	3.680000	0.54641	1.534000	0.49203	0.655000	0.94253	CGG	STOX2	-	pfam_Storkhead-box_winged-helix	ENSG00000173320		0.433	STOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STOX2	HGNC	protein_coding	OTTHUMT00000361433.3	-	0.00	38	0	C	NM_020225		184930364	+1	tier1	-	no_errors	ENST00000308497	ensembl	human	known	74_37	missense	37.84	23	14	SNP	0.996	T
SYNJ1	8867	genome.wustl.edu	37	21	34015720	34015720	+	Splice_Site	SNP	C	C	T			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr21:34015720C>T	ENST00000322229.7	-	26	3477	c.3478G>A	c.(3478-3480)Gca>Aca	p.A1160T	SYNJ1_ENST00000382499.2_Splice_Site_p.A1199T|SYNJ1_ENST00000433931.2_Splice_Site_p.A1199T|SYNJ1_ENST00000357345.3_Intron|SYNJ1_ENST00000382491.3_Intron			O43426	SYNJ1_HUMAN	synaptojanin 1	1160	Pro-rich.				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						GTCTTGTTACCTTCCATCTCT	0.473																																																	0													108.0	111.0	110.0					21																	34015720		2203	4300	6503	SO:0001630	splice_region_variant	0			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.3478+1G>A	21.37:g.34015720C>T			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.A1199T	ENST00000322229.7	37	c.3595	CCDS54484.1	21	.	.	.	.	.	.	.	.	.	.	C	20.5	3.996639	0.74818	.	.	ENSG00000159082	ENST00000382499;ENST00000433931;ENST00000322229	D;D;D	0.93763	-3.28;-2.48;-2.5	5.62	5.62	0.85841	.	0.428114	0.24879	N	0.034876	D	0.90707	0.7084	L	0.43152	1.355	0.80722	D	1	B;B	0.10296	0.001;0.003	B;B	0.08055	0.001;0.003	D	0.85930	0.1451	9	.	.	.	.	19.6657	0.95891	0.0:1.0:0.0:0.0	.	1199;1160	C9JFZ1;O43426-2	.;.	T	1199;1199;1160	ENSP00000371939:A1199T;ENSP00000409667:A1199T;ENSP00000322234:A1160T	.	A	-	1	0	SYNJ1	32937591	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.924000	0.70054	2.637000	0.89404	0.650000	0.86243	GCA	SYNJ1	-	NULL	ENSG00000159082		0.473	SYNJ1-201	KNOWN	basic|CCDS	protein_coding	SYNJ1	HGNC	protein_coding		-	0.00	64	0	C		Missense_Mutation	34015720	-1	tier1	-	no_errors	ENST00000433931	ensembl	human	known	74_37	missense	41.57	52	37	SNP	1.000	T
SYNJ1	8867	genome.wustl.edu	37	21	34045678	34045678	+	Silent	SNP	G	G	T			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr21:34045678G>T	ENST00000322229.7	-	13	1697	c.1698C>A	c.(1696-1698)ccC>ccA	p.P566P	SYNJ1_ENST00000382499.2_Silent_p.P605P|SYNJ1_ENST00000433931.2_Silent_p.P605P|SYNJ1_ENST00000357345.3_Silent_p.P566P|SYNJ1_ENST00000382491.3_Silent_p.P561P			O43426	SYNJ1_HUMAN	synaptojanin 1	566	Catalytic. {ECO:0000255}.				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						CAGCTAACTTGGGTGCATCAA	0.393																																																	0													105.0	101.0	102.0					21																	34045678		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1698C>A	21.37:g.34045678G>T			O43425|O94984|Q4KMR1	Silent	SNP	pfam_Syja_N,pfam_Endo/exonuclease/phosphatase,pfam_DUF1866,superfamily_Endo/exonuclease/phosphatase,smart_IPPc,pfscan_RRM_dom,pfscan_Syja_N	p.P605	ENST00000322229.7	37	c.1815	CCDS54484.1	21																																																																																			SYNJ1	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc	ENSG00000159082		0.393	SYNJ1-201	KNOWN	basic|CCDS	protein_coding	SYNJ1	HGNC	protein_coding		-	0.00	48	0	G			34045678	-1	tier1	-	no_errors	ENST00000433931	ensembl	human	known	74_37	silent	5.88	80	5	SNP	0.998	T
TARS	6897	genome.wustl.edu	37	5	33441009	33441009	+	5'UTR	SNP	C	C	T			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr5:33441009C>T	ENST00000265112.3	+	0	128				TARS_ENST00000455217.2_5'Flank|TARS_ENST00000541634.1_5'Flank|CTD-2203K17.1_ENST00000507251.1_RNA|TARS_ENST00000502553.1_Intron|TARS_ENST00000414361.2_5'Flank	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase						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)	GGCCCGCCTTCCCCCGTTATC	0.622																																																	0																																										SO:0001623	5_prime_UTR_variant	0			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.-184C>T	5.37:g.33441009C>T			A8K8I1|B4DEG8|Q96FP5|Q9BWA6	RNA	SNP	-	NULL	ENST00000265112.3	37	NULL	CCDS3899.1	5																																																																																			TARS	-	-	ENSG00000113407		0.622	TARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TARS	HGNC	protein_coding	OTTHUMT00000207367.1	-	0.00	17	0	C	NM_152295		33441009	+1	tier1	-	no_errors	ENST00000502508	ensembl	human	known	74_37	rna	53.85	6	7	SNP	0.000	T
TAS2R7	50837	genome.wustl.edu	37	12	10954756	10954756	+	Silent	SNP	C	C	T			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr12:10954756C>T	ENST00000240687.2	-	1	470	c.414G>A	c.(412-414)gtG>gtA	p.V138V		NM_023919.2	NP_076408.1	Q9NYW3	TA2R7_HUMAN	taste receptor, type 2, member 7	138					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						CAGAGAGAACCACGCACCCCA	0.408																																																	0													84.0	78.0	80.0					12																	10954756		2203	4300	6503	SO:0001819	synonymous_variant	0			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.414G>A	12.37:g.10954756C>T			Q645Y1	Silent	SNP	pfam_TAS2_rcpt,pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.V138	ENST00000240687.2	37	c.414	CCDS8631.1	12																																																																																			TAS2R7	-	pfam_TAS2_rcpt,pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000121377		0.408	TAS2R7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R7	HGNC	protein_coding	OTTHUMT00000399931.1	-	0.00	50	0	C			10954756	-1	tier1	-	no_errors	ENST00000240687	ensembl	human	known	74_37	silent	7.84	47	4	SNP	0.002	T
TDO2	6999	genome.wustl.edu	37	4	156831349	156831349	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr4:156831349C>A	ENST00000536354.2	+	6	668	c.604C>A	c.(604-606)Ctg>Atg	p.L202M		NM_005651.3	NP_005642.1			tryptophan 2,3-dioxygenase											breast(3)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	18	all_hematologic(180;0.24)	Renal(120;0.0854)		KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141)		AAAGACACTTCTGGAATTAGT	0.308																																					Colon(57;928 1036 2595 6946 26094)												0													55.0	59.0	57.0					4																	156831349		2202	4299	6501	SO:0001583	missense	0				CCDS34086.1	4q31-q32	2008-02-05				ENSG00000151790	1.13.11.11		11708	protein-coding gene	gene with protein product		191070					Standard	NM_005651		Approved	TDO, TPH2	uc003ipf.2	P48775		ENST00000536354.2:c.604C>A	4.37:g.156831349C>A	ENSP00000444788:p.Leu202Met			Missense_Mutation	SNP	pfam_Trp_2_3_dOase	p.L202M	ENST00000536354.2	37	c.604	CCDS34086.1	4	.	.	.	.	.	.	.	.	.	.	C	14.42	2.528840	0.44969	.	.	ENSG00000151790	ENST00000536354	.	.	.	4.92	4.06	0.47325	.	0.000000	0.85682	D	0.000000	T	0.74230	0.3689	M	0.85710	2.77	0.80722	D	1	P	0.44006	0.824	P	0.51866	0.682	T	0.76537	-0.2923	9	0.46703	T	0.11	-14.8693	12.6982	0.57016	0.0:0.9177:0.0:0.0823	.	202	P48775	T23O_HUMAN	M	202	.	ENSP00000281525:L202M	L	+	1	2	TDO2	157050799	0.984000	0.35163	0.799000	0.32177	0.126000	0.20510	2.684000	0.46951	1.175000	0.42826	0.644000	0.83932	CTG	TDO2	-	pfam_Trp_2_3_dOase	ENSG00000151790		0.308	TDO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TDO2	HGNC	protein_coding	OTTHUMT00000366209.3		0.00	24	0	C	NM_005651		156831349	+1			no_errors	ENST00000536354	ensembl	human	known	74_37	missense	10.00	18	2	SNP	1.000	A
TFDP2	7029	genome.wustl.edu	37	3	141678557	141678557	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr3:141678557G>A	ENST00000489671.1	-	11	1440	c.1010C>T	c.(1009-1011)gCg>gTg	p.A337V	TFDP2_ENST00000467072.1_Missense_Mutation_p.A277V|TFDP2_ENST00000310282.6_Missense_Mutation_p.A277V|TFDP2_ENST00000317104.7_Missense_Mutation_p.A261V|TFDP2_ENST00000486111.1_Missense_Mutation_p.A277V|TFDP2_ENST00000499676.2_Missense_Mutation_p.A277V|TFDP2_ENST00000397991.4_Missense_Mutation_p.A309V|TFDP2_ENST00000479040.1_Missense_Mutation_p.A276V|TFDP2_ENST00000495310.1_Missense_Mutation_p.A240V|TFDP2_ENST00000477292.1_Missense_Mutation_p.A201V			Q14188	TFDP2_HUMAN	transcription factor Dp-2 (E2F dimerization partner 2)	337					gene expression (GO:0010467)|heart development (GO:0007507)|mitotic cell cycle (GO:0000278)|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)	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 cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)	p.A337V(1)		kidney(1)|upper_aerodigestive_tract(2)	3						CAGGGATTTCGCAAGTTTCAG	0.423																																																	1	Substitution - Missense(1)	lung(1)											149.0	156.0	153.0					3																	141678557		2002	4176	6178	SO:0001583	missense	0			U18422	CCDS43159.1, CCDS54647.1, CCDS54648.1, CCDS54649.1, CCDS54650.1	3q23	2011-05-24			ENSG00000114126	ENSG00000114126			11751	protein-coding gene	gene with protein product		602160				7784053, 9027491	Standard	NM_001178138		Approved	Dp-2	uc003eun.4	Q14188	OTTHUMG00000164975	ENST00000489671.1:c.1010C>T	3.37:g.141678557G>A	ENSP00000420616:p.Ala337Val		B7Z8C8|B7Z8L5|D3DNG1|E9PFC3|F8WAI2|Q13331|Q14187|Q6R754|Q8WU88|Q9UG28	Missense_Mutation	SNP	pfam_Transc_factor_DP_C,pfam_E2F_TDP,pirsf_Transcrpt_fac_DP	p.A337V	ENST00000489671.1	37	c.1010	CCDS54650.1	3	.	.	.	.	.	.	.	.	.	.	G	29.2	4.989771	0.93106	.	.	ENSG00000114126	ENST00000499676;ENST00000489671;ENST00000486111;ENST00000477292;ENST00000495310;ENST00000467072;ENST00000317104;ENST00000310282;ENST00000479040;ENST00000397991	T;T;T;T;T;T;T;T;T;T	0.52526	1.64;1.56;1.64;0.7;0.66;1.64;1.67;1.64;1.64;1.6	5.16	5.16	0.70880	Transcription factor DP, C-terminal (1);	0.000000	0.64402	D	0.000001	T	0.67692	0.2920	M	0.68728	2.09	0.80722	D	1	D;D;D	0.89917	0.991;1.0;1.0	B;D;D	0.87578	0.44;0.998;0.991	T	0.64364	-0.6425	10	0.35671	T	0.21	-5.5606	18.8432	0.92192	0.0:0.0:1.0:0.0	.	240;337;277	B7Z8L5;Q14188;Q14188-5	.;TFDP2_HUMAN;.	V	277;337;277;201;240;277;261;277;276;309	ENSP00000439782:A277V;ENSP00000420616:A337V;ENSP00000420599:A277V;ENSP00000418971:A201V;ENSP00000419036:A240V;ENSP00000418590:A277V;ENSP00000315668:A261V;ENSP00000309622:A277V;ENSP00000417585:A276V;ENSP00000381078:A309V	ENSP00000309622:A277V	A	-	2	0	TFDP2	143161247	1.000000	0.71417	0.139000	0.22197	0.952000	0.60782	9.062000	0.93920	2.687000	0.91594	0.462000	0.41574	GCG	TFDP2	-	pfam_Transc_factor_DP_C,pirsf_Transcrpt_fac_DP	ENSG00000114126		0.423	TFDP2-001	KNOWN	basic|CCDS	protein_coding	TFDP2	HGNC	protein_coding	OTTHUMT00000353294.4		0.00	60	0	G	NM_006286		141678557	-1			no_errors	ENST00000489671	ensembl	human	known	74_37	missense	5.00	38	2	SNP	1.000	A
TGIF1	7050	genome.wustl.edu	37	18	3452189	3452189	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr18:3452189C>T	ENST00000330513.5	+	1	515	c.212C>T	c.(211-213)cCc>cTc	p.P71L	TGIF1_ENST00000407501.2_Intron|TGIF1_ENST00000400167.2_5'Flank|TGIF1_ENST00000345133.5_Intron|TGIF1_ENST00000401449.1_Intron|TGIF1_ENST00000548489.2_Intron|TGIF1_ENST00000343820.5_Intron|TGIF1_ENST00000405385.3_Intron|TGIF1_ENST00000551402.1_Intron|TGIF1_ENST00000551541.1_Intron|TGIF1_ENST00000577543.1_Intron	NM_170695.2	NP_733796.2	Q15583	TGIF1_HUMAN	TGFB-induced factor homeobox 1	71					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)			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)				CTGGCGACCCCCTCTGCGCTC	0.736																																																	0													27.0	29.0	28.0					18																	3452189		2202	4299	6501	SO:0001583	missense	0			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.212C>T	18.37:g.3452189C>T	ENSP00000327959:p.Pro71Leu		A6NE42|A6NLU7|F8VZB6|Q6ICR0|Q8N5X9|Q9NRS0	Missense_Mutation	SNP	pfam_Homeobox_KN_domain,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.P71L	ENST00000330513.5	37	c.212	CCDS11834.1	18	.	.	.	.	.	.	.	.	.	.	C	14.22	2.471009	0.43942	.	.	ENSG00000177426	ENST00000330513	T	0.52754	0.65	1.27	0.384	0.16244	.	16.274500	0.01025	U	0.004041	T	0.33789	0.0875	N	0.22421	0.69	0.09310	N	0.999995	B	0.02656	0.0	B	0.01281	0.0	T	0.21280	-1.0250	10	0.51188	T	0.08	.	3.5812	0.07954	0.0:0.7403:0.0:0.2597	.	71	Q15583	TGIF1_HUMAN	L	71	ENSP00000327959:P71L	ENSP00000327959:P71L	P	+	2	0	TGIF1	3442189	0.002000	0.14202	0.000000	0.03702	0.001000	0.01503	0.550000	0.23345	0.136000	0.18733	0.561000	0.74099	CCC	TGIF1	-	NULL	ENSG00000177426		0.736	TGIF1-003	KNOWN	basic|CCDS	protein_coding	TGIF1	HGNC	protein_coding	OTTHUMT00000254368.4	-	0.00	63	0	C	NM_170695		3452189	+1	tier1	-	no_errors	ENST00000330513	ensembl	human	known	74_37	missense	47.62	44	40	SNP	0.000	T
TIAM1	7074	genome.wustl.edu	37	21	32492818	32492818	+	Silent	SNP	G	G	T			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr21:32492818G>T	ENST00000286827.3	-	29	5115	c.4644C>A	c.(4642-4644)tcC>tcA	p.S1548S	TIAM1_ENST00000541036.1_Silent_p.S1488S	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1548					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						GTGCCATGCGGGACGCGTGAC	0.592																																																	0													83.0	74.0	77.0					21																	32492818		2203	4300	6503	SO:0001819	synonymous_variant	0				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.4644C>A	21.37:g.32492818G>T			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.S1548	ENST00000286827.3	37	c.4644	CCDS13609.1	21																																																																																			TIAM1	-	NULL	ENSG00000156299		0.592	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIAM1	HGNC	protein_coding	OTTHUMT00000192552.1		0.00	48	0	G	NM_003253		32492818	-1			no_errors	ENST00000286827	ensembl	human	known	74_37	silent	5.26	36	2	SNP	0.999	T
TMC4	147798	genome.wustl.edu	37	19	54666449	54666449	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr19:54666449G>T	ENST00000376591.4	-	10	1608	c.1477C>A	c.(1477-1479)Ctg>Atg	p.L493M	LENG1_ENST00000222224.3_5'Flank|TMC4_ENST00000416963.1_Missense_Mutation_p.L75M|TMC4_ENST00000476013.2_5'Flank|TMC4_ENST00000301187.4_Missense_Mutation_p.L487M	NM_001145303.1|NM_144686.2	NP_001138775|NP_653287.2	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	493					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)					AAGACAGTCAGCAGATCAAAG	0.567																																																	0													49.0	52.0	51.0					19																	54666449		2203	4300	6503	SO:0001583	missense	0			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.1477C>A	19.37:g.54666449G>T	ENSP00000365776:p.Leu493Met		Q7Z5M3|Q8N5E4|Q8TBS7	Missense_Mutation	SNP	pfam_TMC	p.L487M	ENST00000376591.4	37	c.1459	CCDS46174.1	19	.	.	.	.	.	.	.	.	.	.	G	14.94	2.686390	0.47991	.	.	ENSG00000167608	ENST00000301187;ENST00000416963;ENST00000376591	T;T;T	0.68025	-0.3;-0.3;-0.3	4.71	1.38	0.22167	.	0.071260	0.64402	D	0.000019	T	0.75997	0.3926	M	0.66560	2.04	0.47374	D	0.999404	D;D;D	0.89917	1.0;0.982;0.983	D;D;P	0.97110	1.0;0.922;0.885	T	0.73244	-0.4044	10	0.49607	T	0.09	-9.6793	9.332	0.38027	0.2482:0.0:0.7518:0.0	.	493;487;75	Q7Z404;Q7Z404-1;Q7Z404-3	TMC4_HUMAN;.;.	M	487;75;493	ENSP00000301187:L487M;ENSP00000405023:L75M;ENSP00000365776:L493M	ENSP00000301187:L487M	L	-	1	2	TMC4	59358261	1.000000	0.71417	0.979000	0.43373	0.487000	0.33371	2.051000	0.41307	0.278000	0.22164	-0.229000	0.12294	CTG	TMC4	-	pfam_TMC	ENSG00000167608		0.567	TMC4-011	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	TMC4	HGNC	protein_coding	OTTHUMT00000156164.2	-	0.00	65	0	G			54666449	-1	tier1	-	no_errors	ENST00000301187	ensembl	human	known	74_37	missense	6.33	74	5	SNP	1.000	T
TMEM211	255349	genome.wustl.edu	37	22	25334246	25334246	+	Silent	SNP	A	A	G			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr22:25334246A>G	ENST00000423535.1	-	2	209	c.210T>C	c.(208-210)gcT>gcC	p.A70A	TMEM211_ENST00000382744.1_5'UTR|TMEM211_ENST00000407886.1_5'UTR			Q6ICI0	TM211_HUMAN	transmembrane protein 211	70						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						GGAGCATCACAGCTGAGACCT	0.572																																																	0													59.0	58.0	58.0					22																	25334246		2203	4300	6503	SO:0001819	synonymous_variant	0				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.210T>C	22.37:g.25334246A>G				Silent	SNP	pfam_Lipome_HGMIC_fus_partner-like	p.A70	ENST00000423535.1	37	c.210		22																																																																																			TMEM211	-	pfam_Lipome_HGMIC_fus_partner-like	ENSG00000206069		0.572	TMEM211-202	KNOWN	basic|appris_principal	protein_coding	TMEM211	HGNC	protein_coding		-	0.00	53	0	A	NM_001001663		25334246	-1	tier1	-	no_errors	ENST00000423535	ensembl	human	known	74_37	silent	9.76	37	4	SNP	0.642	G
TNRC6B	23112	genome.wustl.edu	37	22	40661352	40661353	+	Frame_Shift_Ins	INS	-	-	A			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr22:40661352_40661353insA	ENST00000454349.2	+	5	1329_1330	c.1118_1119insA	c.(1117-1122)ccaaaafs	p.PK373fs	TNRC6B_ENST00000301923.9_Intron|TNRC6B_ENST00000335727.9_Frame_Shift_Ins_p.PK373fs|TNRC6B_ENST00000402203.1_Intron	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	373	Interaction with argonaute proteins.				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						ACTGATGGACCAAAAAATGGAA	0.455																																																	0																																										SO:0001589	frameshift_variant	0			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.1124dupA	22.37:g.40661358_40661358dupA	ENSP00000401946:p.Pro373fs		B0QY73|B0QY78|B4DGC0|Q5TH52|Q8TBX2	Frame_Shift_Ins	INS	pfam_Argonaute_hook_dom,superfamily_UBA-like	p.N375fs	ENST00000454349.2	37	c.1118_1119	CCDS54533.1	22																																																																																			TNRC6B	-	NULL	ENSG00000100354		0.455	TNRC6B-202	KNOWN	basic|CCDS	protein_coding	TNRC6B	HGNC	protein_coding			0.00	38	0	-			40661353	+1	tier1		no_errors	ENST00000454349	ensembl	human	known	74_37	frame_shift_ins	7.69	24	2	INS	1.000:1.000	A
TRIM77	390231	genome.wustl.edu	37	11	89443572	89443572	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr11:89443572A>G	ENST00000398290.3	+	1	106	c.106A>G	c.(106-108)Agt>Ggt	p.S36G		NM_001146162.1	NP_001139634.1	I1YAP6	TRI77_HUMAN	tripartite motif containing 77	36						intracellular (GO:0005622)	zinc ion binding (GO:0008270)										CAGATTTTGTAGTCCCTGTCT	0.458																																																	0													117.0	94.0	101.0					11																	89443572		692	1591	2283	SO:0001583	missense	0				CCDS60929.1	11q14.3	2014-02-17	2013-01-14	2013-01-14	ENSG00000214414	ENSG00000214414		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	34228	protein-coding gene	gene with protein product			"""tripartite motif-containing 77"", ""tripartite motif containing 77, pseudogene"""	TRIM77P			Standard	NM_001146162		Approved		uc010rtw.2	I1YAP6	OTTHUMG00000167624	ENST00000398290.3:c.106A>G	11.37:g.89443572A>G	ENSP00000474003:p.Ser36Gly			Missense_Mutation	SNP	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,prints_Butyrophylin	p.S36G	ENST00000398290.3	37	c.106		11																																																																																			TRIM77	-	smart_Znf_RING,pfscan_Znf_RING	ENSG00000214414		0.458	TRIM77-201	KNOWN	basic|appris_principal	protein_coding	TRIM77	HGNC	protein_coding		-	0.00	83	0	A	NM_001146162		89443572	+1	tier1	-	no_errors	ENST00000398290	ensembl	human	known	74_37	missense	5.49	86	5	SNP	0.026	G
TRIM77	390231	genome.wustl.edu	37	11	89450867	89450867	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr11:89450867C>T	ENST00000398290.3	+	6	1180	c.1180C>T	c.(1180-1182)Cca>Tca	p.P394S		NM_001146162.1	NP_001139634.1	I1YAP6	TRI77_HUMAN	tripartite motif containing 77	394	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)										CTCTACCTCCCCACTGTTACC	0.473																																																	0													160.0	124.0	135.0					11																	89450867		692	1591	2283	SO:0001583	missense	0				CCDS60929.1	11q14.3	2014-02-17	2013-01-14	2013-01-14	ENSG00000214414	ENSG00000214414		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	34228	protein-coding gene	gene with protein product			"""tripartite motif-containing 77"", ""tripartite motif containing 77, pseudogene"""	TRIM77P			Standard	NM_001146162		Approved		uc010rtw.2	I1YAP6	OTTHUMG00000167624	ENST00000398290.3:c.1180C>T	11.37:g.89450867C>T	ENSP00000474003:p.Pro394Ser			Missense_Mutation	SNP	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,prints_Butyrophylin	p.P394S	ENST00000398290.3	37	c.1180		11																																																																																			TRIM77	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,pfscan_B30.2/SPRY	ENSG00000214414		0.473	TRIM77-201	KNOWN	basic|appris_principal	protein_coding	TRIM77	HGNC	protein_coding		-	0.00	78	0	C	NM_001146162		89450867	+1	tier1	-	no_errors	ENST00000398290	ensembl	human	known	74_37	missense	21.59	69	19	SNP	0.000	T
TRPC3	7222	genome.wustl.edu	37	4	122853924	122853924	+	Silent	SNP	G	G	A	rs200026421		TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr4:122853924G>A	ENST00000379645.3	-	2	562	c.489C>T	c.(487-489)acC>acT	p.T163T	TRPC3_ENST00000264811.5_Silent_p.T90T|TRPC3_ENST00000513531.1_Silent_p.T90T	NM_001130698.1	NP_001124170.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	78					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						GCAGCAGCTCGGTCACCTCCA	0.622																																																	0													60.0	53.0	55.0					4																	122853924		2203	4300	6503	SO:0001819	synonymous_variant	0			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.489C>T	4.37:g.122853924G>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.T163	ENST00000379645.3	37	c.489	CCDS47130.1	4																																																																																			TRPC3	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel	ENSG00000138741		0.622	TRPC3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRPC3	HGNC	protein_coding	OTTHUMT00000364252.1	-	0.00	41	0	G	NM_003305		122853924	-1	tier1	-	no_errors	ENST00000379645	ensembl	human	known	74_37	silent	51.85	13	14	SNP	0.000	A
TSC2	7249	genome.wustl.edu	37	16	2103376	2103376	+	Missense_Mutation	SNP	G	G	T	rs137854271		TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr16:2103376G>T	ENST00000219476.3	+	4	889	c.259G>T	c.(259-261)Gat>Tat	p.D87Y	TSC2_ENST00000350773.4_Missense_Mutation_p.D87Y|TSC2_ENST00000568454.1_Missense_Mutation_p.D98Y|TSC2_ENST00000439673.2_Intron|TSC2_ENST00000401874.2_Missense_Mutation_p.D87Y|TSC2_ENST00000353929.4_Missense_Mutation_p.D87Y|TSC2_ENST00000382538.6_Missense_Mutation_p.D38Y	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	87	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)				GGCGGTCGCGGATCTGTTGCA	0.687			"""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													18.0	18.0	18.0					16																	2103376		2189	4291	6480	SO:0001583	missense	0	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.259G>T	16.37:g.2103376G>T	ENSP00000219476:p.Asp87Tyr		A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Missense_Mutation	SNP	pfam_Tuberin-type_domain,pfam_Tuberin_N,pfam_Rap_GAP_dom,superfamily_ARM-type_fold,pfscan_Rap_GAP_dom,prints_Tuberin	p.D87Y	ENST00000219476.3	37	c.259	CCDS10458.1	16	.	.	.	.	.	.	.	.	.	.	.	18.10	3.547382	0.65311	.	.	ENSG00000103197	ENST00000219476;ENST00000432909;ENST00000401874;ENST00000353929;ENST00000382538;ENST00000350773;ENST00000445113	D;D;D;D;D	0.84800	-1.9;-1.9;-1.9;-1.9;-1.9	4.79	4.79	0.61399	Armadillo-like helical (1);Armadillo-type fold (1);Tuberin, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.92120	0.7502	M	0.78049	2.395	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.998;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.96;1.0;1.0;0.999	D	0.91677	0.5355	10	0.38643	T	0.18	-27.4733	17.8319	0.88685	0.0:0.0:1.0:0.0	.	38;87;87;87;87	B4DIL8;B7Z2B8;P49815-4;P49815-5;P49815	.;.;.;.;TSC2_HUMAN	Y	87;38;87;87;38;87;98	ENSP00000219476:D87Y;ENSP00000384468:D87Y;ENSP00000248099:D87Y;ENSP00000371978:D38Y;ENSP00000344383:D87Y	ENSP00000219476:D87Y	D	+	1	0	TSC2	2043377	1.000000	0.71417	0.824000	0.32777	0.062000	0.15995	9.530000	0.98051	2.220000	0.72140	0.462000	0.41574	GAT	TSC2	-	pfam_Tuberin_N,superfamily_ARM-type_fold	ENSG00000103197		0.687	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TSC2	HGNC	protein_coding	OTTHUMT00000250657.2	-	0.00	94	0	G	NM_000548		2103376	+1	tier1	-	no_errors	ENST00000219476	ensembl	human	known	74_37	missense	40.00	24	16	SNP	1.000	T
TTN	7273	genome.wustl.edu	37	2	179665314	179665314	+	Missense_Mutation	SNP	G	G	C			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr2:179665314G>C	ENST00000591111.1	-	4	615	c.391C>G	c.(391-393)Cct>Gct	p.P131A	TTN_ENST00000460472.2_Missense_Mutation_p.P131A|TTN_ENST00000589042.1_Missense_Mutation_p.P131A|TTN_ENST00000360870.5_Missense_Mutation_p.P131A|TTN_ENST00000342992.6_Missense_Mutation_p.P131A|TTN_ENST00000359218.5_Missense_Mutation_p.P131A|TTN_ENST00000342175.6_Missense_Mutation_p.P131A			Q8WZ42	TITIN_HUMAN	titin	32749	Ig-like 2.				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)			ACAGGTGTAGGGATTCCAGTC	0.517																																																	0													155.0	129.0	138.0					2																	179665314		2203	4300	6503	SO:0001583	missense	0			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.391C>G	2.37:g.179665314G>C	ENSP00000465570:p.Pro131Ala		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_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_dom,pfscan_Ig-like_dom	p.P131A	ENST00000591111.1	37	c.391		2	.	.	.	.	.	.	.	.	.	.	G	16.76	3.212317	0.58452	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.74106	-0.81;-0.81;-0.81;-0.81;-0.81	5.95	5.95	0.96441	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.91981	0.7460	H	0.97707	4.06	0.49483	D	0.999797	D;D;D;D;D	0.89917	0.999;0.997;0.997;0.997;1.0	D;D;D;D;D	0.83275	0.992;0.992;0.992;0.992;0.996	D	0.93908	0.7194	9	0.87932	D	0	.	20.3789	0.98926	0.0:0.0:1.0:0.0	.	131;131;131;131;131	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	A	131	ENSP00000343764:P131A;ENSP00000434586:P131A;ENSP00000340554:P131A;ENSP00000352154:P131A;ENSP00000354117:P131A	ENSP00000340554:P131A	P	-	1	0	TTN	179373559	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.826000	0.97356	0.563000	0.77884	CCT	TTN	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000155657		0.517	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1		0.00	23	0	G	NM_133378		179665314	-1			no_errors	ENST00000342992	ensembl	human	known	74_37	missense	5.41	35	2	SNP	1.000	C
TXNDC5	81567	genome.wustl.edu	37	6	7889014	7889014	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr6:7889014C>T	ENST00000379757.4	-	7	924	c.887G>A	c.(886-888)cGc>cAc	p.R296H	TXNDC5_ENST00000539054.1_Missense_Mutation_p.R224H|TXNDC5_ENST00000473453.1_Missense_Mutation_p.R188H|BLOC1S5-TXNDC5_ENST00000439343.2_3'UTR	NM_030810.3	NP_110437.2	Q8NBS9	TXND5_HUMAN	thioredoxin domain containing 5 (endoplasmic reticulum)	296					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)					AGTCTCTGTGCGCTGCAGCTG	0.642																																					Ovarian(119;1430 1625 3928 26125 34589)												0													145.0	139.0	141.0					6																	7889014		2203	4300	6503	SO:0001583	missense	0			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.887G>A	6.37:g.7889014C>T	ENSP00000369081:p.Arg296His		B2RDM2|Q5TCQ0|Q8ND33|Q8TCT2|Q9BVH9	Missense_Mutation	SNP	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,tigrfam_Disulphide_isomerase	p.R296H	ENST00000379757.4	37	c.887	CCDS4505.1	6	.	.	.	.	.	.	.	.	.	.	C	9.598	1.127855	0.20959	.	.	ENSG00000239264	ENST00000539054;ENST00000379757;ENST00000473453	T;T;T	0.03663	3.86;3.85;3.87	4.98	3.07	0.35406	Thioredoxin-like fold (1);	0.627416	0.17833	N	0.160478	T	0.00875	0.0029	N	0.14661	0.345	0.09310	N	0.999997	B;D	0.54772	0.008;0.968	B;B	0.41036	0.001;0.346	T	0.53464	-0.8435	10	0.45353	T	0.12	.	4.7573	0.13090	0.0:0.5698:0.1883:0.2418	.	224;296	Q86UY0;Q8NBS9	.;TXND5_HUMAN	H	224;296;188	ENSP00000442453:R224H;ENSP00000369081:R296H;ENSP00000420784:R188H	ENSP00000442453:R224H	R	-	2	0	TXNDC5	7834013	0.003000	0.15002	0.778000	0.31720	0.089000	0.18198	1.091000	0.30915	2.470000	0.83445	0.561000	0.74099	CGC	TXNDC5	-	superfamily_Thioredoxin-like_fold	ENSG00000239264		0.642	TXNDC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TXNDC5	HGNC	protein_coding	OTTHUMT00000039792.1	-	0.00	71	0	C	NM_030810		7889014	-1	tier1	-	no_errors	ENST00000379757	ensembl	human	known	74_37	missense	6.25	60	4	SNP	0.359	T
UBQLN3	50613	genome.wustl.edu	37	11	5530201	5530201	+	Missense_Mutation	SNP	A	A	T			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr11:5530201A>T	ENST00000311659.4	-	2	735	c.588T>A	c.(586-588)caT>caA	p.H196Q	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	196										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)		GCTGCTGCATATGGGGGTTGT	0.517																																					Ovarian(72;684 1260 12332 41642 52180)												0													103.0	105.0	104.0					11																	5530201		2201	4297	6498	SO:0001583	missense	0			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.588T>A	11.37:g.5530201A>T	ENSP00000347997:p.His196Gln		Q9NRE0	Missense_Mutation	SNP	pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,pfam_UBA/Ts_N,superfamily_UBA-like,superfamily_ARM-type_fold,smart_Ubiquitin_dom,smart_STI1_HS-bd,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup	p.H196Q	ENST00000311659.4	37	c.588	CCDS7758.1	11	.	.	.	.	.	.	.	.	.	.	A	4.791	0.146987	0.09134	.	.	ENSG00000175520	ENST00000311659;ENST00000445998	T;T	0.38077	1.89;1.16	5.77	-5.31	0.02730	Heat shock chaperonin-binding (1);	0.137353	0.33180	N	0.005196	T	0.12518	0.0304	N	0.13352	0.335	0.30596	N	0.760996	B	0.09022	0.002	B	0.08055	0.003	T	0.42015	-0.9476	10	0.02654	T	1	-35.2827	7.8666	0.29541	0.1607:0.1176:0.6063:0.1154	.	196	Q9H347	UBQL3_HUMAN	Q	196	ENSP00000347997:H196Q;ENSP00000412561:H196Q	ENSP00000347997:H196Q	H	-	3	2	UBQLN3	5486777	0.978000	0.34361	0.845000	0.33349	0.981000	0.71138	0.278000	0.18753	-0.783000	0.04534	0.477000	0.44152	CAT	UBQLN3	-	superfamily_ARM-type_fold,smart_STI1_HS-bd	ENSG00000175520		0.517	UBQLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBQLN3	HGNC	protein_coding	OTTHUMT00000143348.1	-	0.00	75	0	A	NM_017481		5530201	-1	tier1	-	no_errors	ENST00000311659	ensembl	human	known	74_37	missense	40.28	43	29	SNP	0.956	T
UCKL1	54963	genome.wustl.edu	37	20	62572380	62572380	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr20:62572380G>A	ENST00000354216.6	-	10	1081	c.1039C>T	c.(1039-1041)Cgc>Tgc	p.R347C	MIR1914_ENST00000607800.1_RNA|MIR647_ENST00000384823.1_RNA|UCKL1_ENST00000369908.5_Missense_Mutation_p.R332C|UCKL1_ENST00000358711.3_Missense_Mutation_p.S363L|UCKL1_ENST00000369892.3_Missense_Mutation_p.R347C	NM_017859.3	NP_060329.2	Q9NWZ5	UCKL1_HUMAN	uridine-cytidine kinase 1-like 1	347					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)					AACTCGTCGCGACTGGTCTCC	0.647																																																	0													49.0	43.0	45.0					20																	62572380		2188	4294	6482	SO:0001583	missense	0			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.1039C>T	20.37:g.62572380G>A	ENSP00000346155:p.Arg347Cys		B7Z8N2|Q5JWV0|Q70AQ5|Q8N524|Q9H3Z2	Missense_Mutation	SNP	pfam_PRK/URK,pfam_CPT,superfamily_P-loop_NTPase,prints_Uridine_kinase,prints_PRK,tigrfam_Uridine_kinase	p.R347C	ENST00000354216.6	37	c.1039	CCDS13547.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.0|26.0	4.696943|4.696943	0.88830|0.88830	.|.	.|.	ENSG00000198276|ENSG00000198276	ENST00000354216;ENST00000369892;ENST00000369908;ENST00000430743|ENST00000358711	.|.	.|.	.|.	5.27|5.27	5.27|5.27	0.74061|0.74061	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.78419|0.78419	0.4280|0.4280	M|M	0.91920|0.91920	3.255|3.255	0.30760|0.30760	N|N	0.744153|0.744153	D;D|.	0.89917|.	1.0;0.988|.	D;B|.	0.81914|.	0.995;0.397|.	T|T	0.81623|0.81623	-0.0849|-0.0849	9|6	0.59425|0.87932	D|D	0.04|0	-32.4509|-32.4509	14.6864|14.6864	0.69052|0.69052	0.0:0.0:0.8457:0.1543|0.0:0.0:0.8457:0.1543	.|.	332;347|.	B7Z8N2;Q9NWZ5|.	.;UCKL1_HUMAN|.	C|L	347;347;332;12|363	.|.	ENSP00000346155:R347C|ENSP00000351546:S363L	R|S	-|-	1|2	0|0	UCKL1|UCKL1	62042824|62042824	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.831000|0.831000	0.47069|0.47069	4.407000|4.407000	0.59754|0.59754	2.456000|2.456000	0.83038|0.83038	0.555000|0.555000	0.69702|0.69702	CGC|TCG	UCKL1	-	NULL	ENSG00000198276		0.647	UCKL1-001	KNOWN	basic|CCDS	protein_coding	UCKL1	HGNC	protein_coding	OTTHUMT00000080236.1	-	0.00	56	0	G	NM_017859		62572380	-1	tier1	-	no_errors	ENST00000354216	ensembl	human	known	74_37	missense	33.80	46	24	SNP	1.000	A
USP6NL	9712	genome.wustl.edu	37	10	11504478	11504478	+	Silent	SNP	G	G	T			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr10:11504478G>T	ENST00000609104.1	-	15	2843	c.2449C>A	c.(2449-2451)Cgg>Agg	p.R817R	USP6NL_ENST00000277575.5_Silent_p.R834R|USP6NL_ENST00000379237.2_Silent_p.R840R	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN	USP6 N-terminal like	817					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)	p.R834W(1)		endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						AGCCCGTCCCGATTCCTGTAG	0.507																																																	1	Substitution - Missense(1)	prostate(1)											57.0	62.0	61.0					10																	11504478		2013	4166	6179	SO:0001819	synonymous_variant	0			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.2449C>A	10.37:g.11504478G>T			A8KA79|Q15400|Q5VV10|Q7L0K9	Silent	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.R840	ENST00000609104.1	37	c.2518	CCDS53492.1	10																																																																																			USP6NL	-	NULL	ENSG00000148429		0.507	USP6NL-001	KNOWN	basic|CCDS	protein_coding	USP6NL	HGNC	protein_coding	OTTHUMT00000046764.3		0.00	55	0	G	NM_014688		11504478	-1			no_errors	ENST00000379237	ensembl	human	known	74_37	silent	5.36	53	3	SNP	0.409	T
VWF	7450	genome.wustl.edu	37	12	6080796	6080796	+	Missense_Mutation	SNP	G	G	A	rs181094101		TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr12:6080796G>A	ENST00000261405.5	-	44	7771	c.7517C>T	c.(7516-7518)cCg>cTg	p.P2506L		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	2506					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)	GTCCCCCCGCGGTGAGCCAGT	0.612													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17559	0.0		0.0	False		,,,				2504	0.0																0													82.0	78.0	79.0					12																	6080796		2203	4300	6503	SO:0001583	missense	0				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.7517C>T	12.37:g.6080796G>A	ENSP00000261405:p.Pro2506Leu		Q8TCE8|Q99806	Missense_Mutation	SNP	pirsf_VWF,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,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C	p.P2506L	ENST00000261405.5	37	c.7517	CCDS8539.1	12	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	0.354	-0.943321	0.02322	.	.	ENSG00000110799	ENST00000261405	T	0.34859	1.34	4.79	-2.02	0.07388	.	0.866135	0.09662	N	0.772377	T	0.22085	0.0532	L	0.52364	1.645	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.33929	-0.9849	10	0.08179	T	0.78	.	1.9377	0.03340	0.2339:0.2428:0.3994:0.1239	.	2506	P04275	VWF_HUMAN	L	2506	ENSP00000261405:P2506L	ENSP00000261405:P2506L	P	-	2	0	VWF	5951057	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.627000	0.05521	-0.041000	0.13558	-0.264000	0.10439	CCG	VWF	-	pirsf_VWF	ENSG00000110799		0.612	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	VWF	HGNC	protein_coding	OTTHUMT00000399020.1		0.00	38	0	G	NM_000552		6080796	-1			no_errors	ENST00000261405	ensembl	human	known	74_37	missense	7.69	24	2	SNP	0.000	A
WDR66	144406	genome.wustl.edu	37	12	122359236	122359236	+	Nonsense_Mutation	SNP	C	C	T	rs199761378		TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr12:122359236C>T	ENST00000288912.4	+	2	879	c.25C>T	c.(25-27)Cga>Tga	p.R9*	RP11-87C12.2_ENST00000546333.1_3'UTR|WDR66_ENST00000397454.2_Nonsense_Mutation_p.R9*	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	9	Glu-rich.						calcium ion binding (GO:0005509)	p.R9*(1)		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)		AGAAGCTCCCCGAGAAGCAAC	0.418													C|||	1	0.000199681	0.0	0.0	5008	,	,		17653	0.001		0.0	False		,,,				2504	0.0				Esophageal Squamous(85;849 1794 49757 52143)												1	Substitution - Nonsense(1)	soft_tissue(1)						C	stop/ARG,stop/ARG	1,3723		0,1,1861	70.0	72.0	71.0		25,25	-5.9	0.0	12		71	1,8211		0,1,4105	yes	stop-gained,stop-gained	WDR66	NM_001178003.1,NM_144668.5	,	0,2,5966	TT,TC,CC		0.0122,0.0269,0.0168	,	9/942,9/1150	122359236	2,11934	1862	4106	5968	SO:0001587	stop_gained	0			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.25C>T	12.37:g.122359236C>T	ENSP00000288912:p.Arg9*		C9J1W2|Q8IYA3|Q8N898|Q8NDE7	Nonsense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.R9*	ENST00000288912.4	37	c.25	CCDS41853.1	12	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	12.31	1.900368	0.33535	2.69E-4	1.22E-4	ENSG00000158023	ENST00000288912;ENST00000397454	.	.	.	3.89	-5.95	0.02241	.	3.503140	0.01491	N	0.017075	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	.	5.9319	0.19144	0.1436:0.3625:0.4151:0.0788	.	.	.	.	X	9	.	ENSP00000288912:R9X	R	+	1	2	WDR66	120843619	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.665000	0.05286	-1.722000	0.01377	-2.836000	0.00105	CGA	WDR66	-	NULL	ENSG00000158023		0.418	WDR66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR66	HGNC	protein_coding	OTTHUMT00000401700.1		0.00	26	0	C	NM_144668		122359236	+1			no_errors	ENST00000288912	ensembl	human	known	74_37	nonsense	9.38	29	3	SNP	0.000	T
WFDC9	259240	genome.wustl.edu	37	20	44237432	44237432	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr20:44237432C>T	ENST00000326000.1	-	4	326	c.109G>A	c.(109-111)Gaa>Aaa	p.E37K		NM_147198.3	NP_671731.1	Q8NEX5	WFDC9_HUMAN	WAP four-disulfide core domain 9	37						extracellular region (GO:0005576)				breast(1)|large_intestine(1)|liver(1)|lung(1)|prostate(1)|stomach(1)	6		Myeloproliferative disorder(115;0.0122)				TGCTCAGTTTCTCTTATCATA	0.403																																																	0													117.0	103.0	108.0					20																	44237432		2203	4300	6503	SO:0001583	missense	0			AL031671	CCDS13362.1	20q13.12	2013-01-21			ENSG00000180205	ENSG00000180205		"""WAP four-disulfide core domain containing"""	20380	protein-coding gene	gene with protein product						12206714	Standard	NM_147198		Approved	WAP9, dJ688G8.2	uc002xoy.3	Q8NEX5	OTTHUMG00000046332	ENST00000326000.1:c.109G>A	20.37:g.44237432C>T	ENSP00000320532:p.Glu37Lys		Q3MIX6|Q5TGZ8	Missense_Mutation	SNP	NULL	p.E37K	ENST00000326000.1	37	c.109	CCDS13362.1	20	.	.	.	.	.	.	.	.	.	.	C	7.654	0.683569	0.14907	.	.	ENSG00000180205	ENST00000326000	T	0.34859	1.34	3.73	2.79	0.32731	.	0.766950	0.11079	N	0.602008	T	0.31199	0.0789	.	.	.	0.09310	N	1	B	0.30634	0.288	B	0.37943	0.261	T	0.29243	-1.0018	9	0.30078	T	0.28	-6.1154	9.7637	0.40548	0.0:0.7926:0.2074:0.0	.	37	Q8NEX5	WFDC9_HUMAN	K	37	ENSP00000320532:E37K	ENSP00000320532:E37K	E	-	1	0	WFDC9	43670846	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	0.150000	0.16263	1.158000	0.42547	-0.150000	0.13652	GAA	WFDC9	-	NULL	ENSG00000180205		0.403	WFDC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WFDC9	HGNC	protein_coding	OTTHUMT00000106945.1	-	0.00	46	0	C			44237432	-1	tier1	-	no_errors	ENST00000326000	ensembl	human	known	74_37	missense	23.08	70	21	SNP	0.002	T
XIRP2	129446	genome.wustl.edu	37	2	168099625	168099625	+	Nonsense_Mutation	SNP	C	C	T			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr2:168099625C>T	ENST00000409195.1	+	9	1812	c.1723C>T	c.(1723-1725)Cag>Tag	p.Q575*	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Nonsense_Mutation_p.Q575*|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Nonsense_Mutation_p.Q353*|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	400					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.Q575K(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						GGGAGAGGTGCAGTCCATTAG	0.403																																																	1	Substitution - Missense(1)	lung(1)											65.0	64.0	64.0					2																	168099625		1902	4106	6008	SO:0001587	stop_gained	0			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.1723C>T	2.37:g.168099625C>T	ENSP00000386840:p.Gln575*		A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Nonsense_Mutation	SNP	pfam_Actin-binding_Xin_repeat	p.Q575*	ENST00000409195.1	37	c.1723	CCDS42769.1	2	.	.	.	.	.	.	.	.	.	.	C	40	8.133161	0.98670	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	.	.	.	5.54	5.54	0.83059	.	0.128586	0.53938	D	0.000052	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-8.729	19.0979	0.93260	0.0:1.0:0.0:0.0	.	.	.	.	X	575;575;353	.	ENSP00000295237:Q575X	Q	+	1	0	XIRP2	167807871	1.000000	0.71417	0.996000	0.52242	0.956000	0.61745	7.818000	0.86416	2.615000	0.88500	0.655000	0.94253	CAG	XIRP2	-	pfam_Actin-binding_Xin_repeat	ENSG00000163092		0.403	XIRP2-001	KNOWN	basic|CCDS	protein_coding	XIRP2	HGNC	protein_coding	OTTHUMT00000333547.1		0.00	23	0	C	NM_152381		168099625	+1			no_errors	ENST00000295237	ensembl	human	known	74_37	nonsense	6.25	30	2	SNP	1.000	T
XPO4	64328	genome.wustl.edu	37	13	21396395	21396395	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr13:21396395C>T	ENST00000255305.6	-	8	945	c.874G>A	c.(874-876)Gca>Aca	p.A292T	XPO4_ENST00000400602.2_Missense_Mutation_p.A292T			Q9C0E2	XPO4_HUMAN	exportin 4	292					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)		GAATCTTGTGCCATATCTGAA	0.393																																																	0													136.0	133.0	134.0					13																	21396395		1879	4100	5979	SO:0001583	missense	0			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.874G>A	13.37:g.21396395C>T	ENSP00000255305:p.Ala292Thr		Q5VUZ5|Q8N3V6|Q9H934	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.A292T	ENST00000255305.6	37	c.874	CCDS41872.1	13	.	.	.	.	.	.	.	.	.	.	C	26.5	4.747163	0.89663	.	.	ENSG00000132953	ENST00000400602;ENST00000456108;ENST00000255305	T;T	0.67345	-0.26;-0.26	5.57	5.57	0.84162	Armadillo-type fold (1);	0.046713	0.85682	D	0.000000	T	0.63331	0.2502	L	0.44542	1.39	0.80722	D	1	P	0.37663	0.604	B	0.38803	0.282	T	0.59402	-0.7461	10	0.27785	T	0.31	-12.4124	19.9066	0.97010	0.0:1.0:0.0:0.0	.	292	Q9C0E2	XPO4_HUMAN	T	292;162;292	ENSP00000383444:A292T;ENSP00000255305:A292T	ENSP00000255305:A292T	A	-	1	0	XPO4	20294395	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.445000	0.80570	2.779000	0.95612	0.655000	0.94253	GCA	XPO4	-	superfamily_ARM-type_fold	ENSG00000132953		0.393	XPO4-001	KNOWN	non_canonical_conserved|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	XPO4	HGNC	protein_coding	OTTHUMT00000044096.1		0.00	24	0	C	NM_022459		21396395	-1			no_errors	ENST00000255305	ensembl	human	known	74_37	missense	8.89	41	4	SNP	1.000	T
ZBED4	9889	genome.wustl.edu	37	22	50279480	50279480	+	Nonsense_Mutation	SNP	G	G	T			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr22:50279480G>T	ENST00000216268.5	+	2	2647	c.2170G>T	c.(2170-2172)Gag>Tag	p.E724*		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	724						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)		TAAGGAAGCTGAGAGTGGTGT	0.522																																																	0													74.0	75.0	75.0					22																	50279480		2203	4300	6503	SO:0001587	stop_gained	0			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.2170G>T	22.37:g.50279480G>T	ENSP00000216268:p.Glu724*		B2RZH1|Q1ECU0|Q9UGG8	Nonsense_Mutation	SNP	pfam_Znf_BED_prd,pfam_HATC_dom_C,superfamily_RNaseH-like_dom,smart_Znf_BED_prd,pfscan_Znf_BED_prd	p.E724*	ENST00000216268.5	37	c.2170	CCDS33677.1	22	.	.	.	.	.	.	.	.	.	.	G	43	9.980185	0.99309	.	.	ENSG00000100426	ENST00000216268	.	.	.	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-36.6208	19.239	0.93875	0.0:0.0:1.0:0.0	.	.	.	.	X	724	.	ENSP00000216268:E724X	E	+	1	0	ZBED4	48665484	1.000000	0.71417	0.944000	0.38274	0.852000	0.48524	9.312000	0.96287	2.533000	0.85409	0.561000	0.74099	GAG	ZBED4	-	superfamily_RNaseH-like_dom	ENSG00000100426		0.522	ZBED4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBED4	HGNC	protein_coding	OTTHUMT00000317408.2		0.00	31	0	G	NM_014838		50279480	+1			no_errors	ENST00000216268	ensembl	human	known	74_37	nonsense	6.45	29	2	SNP	1.000	T
ZCCHC8	55596	genome.wustl.edu	37	12	122985317	122985317	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr12:122985317G>A	ENST00000336229.4	-	1	201	c.71C>T	c.(70-72)cCg>cTg	p.P24L	ZCCHC8_ENST00000543897.1_5'Flank|ZCCHC8_ENST00000536306.1_5'Flank	NM_017612.3	NP_060082.2	Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	24					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)		AACGGGCTTCGGAATCGACTC	0.597																																																	0													27.0	32.0	31.0					12																	122985317		1908	4094	6002	SO:0001583	missense	0			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.71C>T	12.37:g.122985317G>A	ENSP00000337313:p.Pro24Leu		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.P24L	ENST00000336229.4	37	c.71		12	.	.	.	.	.	.	.	.	.	.	G	14.09	2.432873	0.43224	.	.	ENSG00000033030	ENST00000336229	T	0.47869	0.83	5.46	2.47	0.30058	.	0.111381	0.64402	N	0.000009	T	0.43322	0.1242	M	0.63428	1.95	0.23113	N	0.998275	B	0.18968	0.032	B	0.10450	0.005	T	0.37291	-0.9712	10	0.44086	T	0.13	-4.6387	11.3303	0.49473	0.1242:0.1761:0.6997:0.0	.	24	Q6NZY4	ZCHC8_HUMAN	L	24	ENSP00000337313:P24L	ENSP00000337313:P24L	P	-	2	0	ZCCHC8	121551270	0.997000	0.39634	0.824000	0.32777	0.410000	0.31052	3.347000	0.52200	0.375000	0.24679	-1.814000	0.00607	CCG	ZCCHC8	-	NULL	ENSG00000033030		0.597	ZCCHC8-201	KNOWN	basic|appris_principal	protein_coding	ZCCHC8	HGNC	protein_coding		-	0.00	37	0	G	NM_017612		122985317	-1	tier1	-	no_errors	ENST00000336229	ensembl	human	known	74_37	missense	20.90	53	14	SNP	0.272	A
ZMYM3	9203	genome.wustl.edu	37	X	70472901	70472901	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chrX:70472901C>T	ENST00000353904.2	-	2	392	c.205G>A	c.(205-207)Gac>Aac	p.D69N	ZMYM3_ENST00000373998.1_Missense_Mutation_p.D69N|ZMYM3_ENST00000373982.1_Missense_Mutation_p.D69N|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373984.3_Missense_Mutation_p.D69N|ZMYM3_ENST00000373978.1_Missense_Mutation_p.D69N|ZMYM3_ENST00000373981.1_Missense_Mutation_p.D69N|ZMYM3_ENST00000314425.5_Missense_Mutation_p.D69N|ZMYM3_ENST00000373988.1_Missense_Mutation_p.D69N	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	69					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)	p.D69fs*9(1)		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)					ACTCCAGGGTCTTTTTCCAGG	0.652																																																	1	Deletion - Frameshift(1)	prostate(1)											14.0	16.0	15.0					X																	70472901		2197	4291	6488	SO:0001583	missense	0			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.205G>A	X.37:g.70472901C>T	ENSP00000343909:p.Asp69Asn		D3DVV3|O15089|Q96E26	Missense_Mutation	SNP	pfam_Znf_MYM,pfam_DUF3504,smart_TRASH_dom	p.D69N	ENST00000353904.2	37	c.205	CCDS14409.1	X	.	.	.	.	.	.	.	.	.	.	c	17.39	3.377407	0.61735	.	.	ENSG00000147130	ENST00000314425;ENST00000373998;ENST00000353904;ENST00000373984;ENST00000373988;ENST00000373982;ENST00000373981;ENST00000373978	T;T;T;T;T;T;T;T	0.34472	1.36;1.36;1.36;1.36;1.36;1.36;1.36;1.36	5.28	5.28	0.74379	.	0.413451	0.21551	N	0.072737	T	0.38427	0.1040	N	0.14661	0.345	0.25035	N	0.991248	D;P;B	0.63880	0.993;0.557;0.421	D;B;B	0.70935	0.971;0.169;0.081	T	0.20773	-1.0265	10	0.30078	T	0.28	-7.3827	10.1031	0.42517	0.0:0.8965:0.0:0.1035	.	69;69;69	Q96E26;Q14202-2;Q14202	.;.;ZMYM3_HUMAN	N	69	ENSP00000322845:D69N;ENSP00000363110:D69N;ENSP00000343909:D69N;ENSP00000363096:D69N;ENSP00000363100:D69N;ENSP00000363094:D69N;ENSP00000363093:D69N;ENSP00000363090:D69N	ENSP00000322845:D69N	D	-	1	0	ZMYM3	70389626	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	3.341000	0.52151	2.204000	0.70986	0.287000	0.19450	GAC	ZMYM3	-	NULL	ENSG00000147130		0.652	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZMYM3	HGNC	protein_coding	OTTHUMT00000057154.1	-	0.00	53	0	C	NM_201599		70472901	-1	tier1	-	no_errors	ENST00000373988	ensembl	human	known	74_37	missense	28.33	43	17	SNP	1.000	T
ZNF285	26974	genome.wustl.edu	37	19	44890839	44890839	+	Missense_Mutation	SNP	C	C	T	rs372788610		TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr19:44890839C>T	ENST00000330997.4	-	4	1632	c.1568G>A	c.(1567-1569)cGg>cAg	p.R523Q	ZNF285_ENST00000544719.2_Missense_Mutation_p.R523Q|ZNF285_ENST00000591679.1_Missense_Mutation_p.R530Q|CTC-512J12.6_ENST00000588212.1_Intron	NM_152354.3	NP_689567.3	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	523					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(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						ATCTGAATTCCGGCTGAAGCC	0.413																																																	0								C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	93.0	95.0	94.0		1568	0.1	0.1	19		94	0,8600		0,0,4300	no	missense	ZNF285	NM_152354.3	43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		523/591	44890839	1,13005	2203	4300	6503	SO:0001583	missense	0			AK055309	CCDS12638.1, CCDS74389.1	19q13.32	2013-01-08	2010-04-14	2010-04-14		ENSG00000267508		"""Zinc fingers, C2H2-type"", ""-"""	13079	protein-coding gene	gene with protein product			"""zinc finger protein 285A"""	ZNF285A			Standard	XM_005258734		Approved			Q96NJ3	OTTHUMG00000178848	ENST00000330997.4:c.1568G>A	19.37:g.44890839C>T	ENSP00000333595:p.Arg523Gln		Q17RJ3|Q6B0A8|Q6ISR5	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R523Q	ENST00000330997.4	37	c.1568	CCDS12638.1	19	.	.	.	.	.	.	.	.	.	.	C	2.925	-0.222400	0.06061	2.27E-4	0.0	ENSG00000062370	ENST00000544719;ENST00000330997	T	0.07444	3.19	3.6	0.128	0.14733	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02119	0.0066	N	0.01250	-0.93	0.09310	N	1	B;B	0.18968	0.032;0.032	B;B	0.04013	0.001;0.001	T	0.45220	-0.9276	9	0.02654	T	1	.	7.171	0.25719	0.0:0.4674:0.0:0.5326	.	547;523	B7ZLR9;Q96NJ3	.;ZN285_HUMAN	Q	546;523	ENSP00000333595:R523Q	ENSP00000333595:R523Q	R	-	2	0	ZNF285	49582679	0.000000	0.05858	0.084000	0.20598	0.982000	0.71751	-2.096000	0.01349	-0.101000	0.12219	0.454000	0.30748	CGG	ZNF285	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000267508		0.413	ZNF285-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF285	HGNC	protein_coding	OTTHUMT00000443600.1	-	0.00	63	0	C	NM_152354		44890839	-1	tier1	-	no_errors	ENST00000330997	ensembl	human	known	74_37	missense	46.60	55	48	SNP	0.000	T
ALG1L9P	285407	genome.wustl.edu	37	11	71526873	71526873	+	RNA	SNP	G	G	A			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr11:71526873G>A	ENST00000508969.2	-	0	0				ZNF705E_ENST00000525199.1_RNA	NR_073387.1																						CCCTTGGAAAGACTTTCCCTT	0.373																																																	0																																												0																															11.37:g.71526873G>A				RNA	SNP	-	NULL	ENST00000508969.2	37	NULL		11																																																																																			ZNF705E	-	-	ENSG00000214534		0.373	CTD-2313N18.5-002	KNOWN	basic	processed_transcript	ZNF705E	HGNC	processed_transcript	OTTHUMT00000394764.1	-	0.00	56	0	G			71526873	-1	tier1	-	no_errors	ENST00000525199	ensembl	human	known	74_37	rna	56.52	20	26	SNP	0.000	A
ZNF865	100507290	genome.wustl.edu	37	19	56126661	56126661	+	Silent	SNP	C	C	T			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr19:56126661C>T	ENST00000568956.1	+	2	2031	c.1677C>T	c.(1675-1677)ttC>ttT	p.F559F		NM_001195605.1	NP_001182534.1	P0CJ78	ZN865_HUMAN	zinc finger protein 865	559					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										GGCGCGGCTTCGGGCGCCGCG	0.721																																																	0																																										SO:0001819	synonymous_variant	0				CCDS58681.1	19q13.42	2013-01-08			ENSG00000261221	ENSG00000261221		"""Zinc fingers, C2H2-type"""	38705	protein-coding gene	gene with protein product							Standard	NM_001195605		Approved		uc021vca.1	P0CJ78	OTTHUMG00000177108	ENST00000568956.1:c.1677C>T	19.37:g.56126661C>T				Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.F559	ENST00000568956.1	37	c.1677	CCDS58681.1	19																																																																																			ZNF865	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000261221		0.721	ZNF865-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF865	HGNC	protein_coding	OTTHUMT00000435399.1	-	0.00	16	0	C	NM_001195605		56126661	+1	tier1	-	no_errors	ENST00000568956	ensembl	human	novel	74_37	silent	20.00	20	5	SNP	0.955	T
