#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
AACS	65985	genome.wustl.edu	37	12	125613984	125613984	+	Missense_Mutation	SNP	G	G	C			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr12:125613984G>C	ENST00000316519.6	+	14	1733	c.1527G>C	c.(1525-1527)aaG>aaC	p.K509N	AACS_ENST00000261686.6_Missense_Mutation_p.K509N|AACS_ENST00000545511.1_Missense_Mutation_p.R89T|AACS_ENST00000316543.10_Missense_Mutation_p.K107N|AACS_ENST00000543665.1_Missense_Mutation_p.R9T	NM_023928.3	NP_076417.2	Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	509					adipose tissue development (GO:0060612)|cellular response to cholesterol (GO:0071397)|cellular response to glucose stimulus (GO:0071333)|cellular response to testosterone stimulus (GO:0071394)|fatty acid metabolic process (GO:0006631)|liver development (GO:0001889)|positive regulation of insulin secretion (GO:0032024)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|response to oleic acid (GO:0034201)|response to purine-containing compound (GO:0014074)|response to starvation (GO:0042594)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)	acetoacetate-CoA ligase activity (GO:0030729)|ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		AGTACAGGAAGGCGTATTTCT	0.562																																																	0													155.0	155.0	155.0					12																	125613984		2203	4300	6503	SO:0001583	missense	0			AK022451	CCDS9263.1	12q24.31	2010-09-29			ENSG00000081760	ENSG00000081760	6.2.1.16	"""Acyl-CoA synthetase family"""	21298	protein-coding gene	gene with protein product	"""acyl-CoA synthetase family member 1"""	614364				12623130, 17762044	Standard	NM_023928		Approved	FLJ12389, SUR-5, ACSF1	uc001uhc.3	Q86V21	OTTHUMG00000168550	ENST00000316519.6:c.1527G>C	12.37:g.125613984G>C	ENSP00000324842:p.Lys509Asn		Q49AB9|Q49AC3|Q658Q8|Q8IWD2|Q8NEW5|Q9BSJ9|Q9H829|Q9HA19	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig,tigrfam_Acac_CoA_synth	p.K509N	ENST00000316519.6	37	c.1527	CCDS9263.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.15|10.15	1.270118|1.270118	0.23221|0.23221	.|.	.|.	ENSG00000081760|ENSG00000081760	ENST00000316519;ENST00000261686;ENST00000316543;ENST00000538851;ENST00000536118|ENST00000545511;ENST00000543665	T;T;T;T;T|.	0.46063|.	2.75;2.75;2.75;0.88;2.75|.	4.66|4.66	3.74|3.74	0.42951|0.42951	AMP-dependent synthetase/ligase (1);|.	0.044941|.	0.85682|.	D|.	0.000000|.	T|T	0.44787|0.44787	0.1310|0.1310	N|N	0.20304|0.20304	0.555|0.555	0.58432|0.58432	D|D	0.999996|0.999996	B;P|.	0.36222|.	0.281;0.544|.	B;B|.	0.35278|.	0.103;0.199|.	T|T	0.47394|0.47394	-0.9121|-0.9121	10|6	0.23891|0.72032	T|D	0.37|0.01	.|.	9.3947|9.3947	0.38394|0.38394	0.224:0.0:0.776:0.0|0.224:0.0:0.776:0.0	.|.	509;509|.	Q86V21-2;Q86V21|.	.;AACS_HUMAN|.	N|T	509;509;107;174;64|89;9	ENSP00000324842:K509N;ENSP00000261686:K509N;ENSP00000324929:K107N;ENSP00000441686:K174N;ENSP00000441331:K64N|.	ENSP00000261686:K509N|ENSP00000442007:R9T	K|R	+|+	3|2	2|0	AACS|AACS	124179937|124179937	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	1.486000|1.486000	0.35530|0.35530	2.393000|2.393000	0.81446|0.81446	0.462000|0.462000	0.41574|0.41574	AAG|AGG	AACS	-	pfam_AMP-dep_Synth/Lig,tigrfam_Acac_CoA_synth	ENSG00000081760		0.562	AACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AACS	HGNC	protein_coding	OTTHUMT00000400202.1	-	0.00	121	0	G	NM_023928		125613984	+1	tier1	-	no_errors	ENST00000316519	ensembl	human	known	74_37	missense	78.57	18	66	SNP	1.000	C
ABCA10	10349	genome.wustl.edu	37	17	67218024	67218024	+	Missense_Mutation	SNP	G	G	A			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr17:67218024G>A	ENST00000269081.4	-	6	1121	c.212C>T	c.(211-213)gCc>gTc	p.A71V	ABCA10_ENST00000432313.2_Missense_Mutation_p.A71V|ABCA10_ENST00000416101.2_Missense_Mutation_p.A71V|ABCA10_ENST00000423818.2_Intron	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	71					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					ACCATGCATGGCCCAACAGTG	0.348																																																	0													67.0	63.0	64.0					17																	67218024		2203	4300	6503	SO:0001583	missense	0			AY247065	CCDS11684.1	17q24	2012-03-14			ENSG00000154263	ENSG00000154263		"""ATP binding cassette transporters / subfamily A"""	30	protein-coding gene	gene with protein product		612508				12821155, 11435397	Standard	NM_080282		Approved	EST698739	uc010dfa.1	Q8WWZ4	OTTHUMG00000164716	ENST00000269081.4:c.212C>T	17.37:g.67218024G>A	ENSP00000269081:p.Ala71Val		C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Missense_Mutation	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.A71V	ENST00000269081.4	37	c.212	CCDS11684.1	17	.	.	.	.	.	.	.	.	.	.	G	6.322	0.427516	0.11987	.	.	ENSG00000154263	ENST00000269081;ENST00000416101;ENST00000432313	D;D;D	0.87103	-2.21;-1.99;-1.7	3.0	-6.0	0.02206	.	.	.	.	.	T	0.72374	0.3452	L	0.27053	0.805	0.09310	N	1	B	0.14012	0.009	B	0.18263	0.021	T	0.56068	-0.8040	9	0.30078	T	0.28	.	3.0692	0.06225	0.1039:0.1371:0.2054:0.5535	.	71	Q8WWZ4	ABCAA_HUMAN	V	71	ENSP00000269081:A71V;ENSP00000407772:A71V;ENSP00000387674:A71V	ENSP00000269081:A71V	A	-	2	0	ABCA10	64729619	.	.	0.000000	0.03702	0.007000	0.05969	.	.	-1.438000	0.01965	-0.321000	0.08615	GCC	ABCA10	-	NULL	ENSG00000154263		0.348	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA10	HGNC	protein_coding	OTTHUMT00000379881.4	-	0.00	23	0	G	NM_080282		67218024	-1	tier1	-	no_errors	ENST00000269081	ensembl	human	known	74_37	missense	42.03	40	29	SNP	0.000	A
ABCA13	154664	genome.wustl.edu	37	7	48278946	48278946	+	Missense_Mutation	SNP	T	T	G			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr7:48278946T>G	ENST00000435803.1	+	9	1030	c.1006T>G	c.(1006-1008)Tca>Gca	p.S336A		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	336					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CCCTAAGTGGTCAGAAGCCAA	0.507																																																	0													71.0	75.0	74.0					7																	48278946		2038	4190	6228	SO:0001583	missense	0			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.1006T>G	7.37:g.48278946T>G	ENSP00000411096:p.Ser336Ala		K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.S336A	ENST00000435803.1	37	c.1006	CCDS47584.1	7	.	.	.	.	.	.	.	.	.	.	T	15.03	2.711243	0.48517	.	.	ENSG00000179869	ENST00000435803	D	0.90620	-2.7	4.87	3.72	0.42706	.	0.000000	0.41500	D	0.000862	D	0.83069	0.5174	L	0.32530	0.975	0.80722	D	1	B	0.33135	0.399	B	0.30495	0.116	T	0.79921	-0.1599	10	0.66056	D	0.02	.	7.065	0.25147	0.0:0.1011:0.0:0.8989	.	336	Q86UQ4	ABCAD_HUMAN	A	336	ENSP00000411096:S336A	ENSP00000411096:S336A	S	+	1	0	ABCA13	48249492	0.747000	0.28283	0.992000	0.48379	0.861000	0.49209	0.222000	0.17699	0.883000	0.36040	0.533000	0.62120	TCA	ABCA13	-	NULL	ENSG00000179869		0.507	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA13	HGNC	protein_coding	OTTHUMT00000341964.2	-	0.00	39	0	T	NM_152701		48278946	+1	tier1	-	no_errors	ENST00000435803	ensembl	human	known	74_37	missense	45.45	36	30	SNP	1.000	G
ABCA7	10347	genome.wustl.edu	37	19	1061782	1061782	+	Splice_Site	SNP	G	G	T			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr19:1061782G>T	ENST00000263094.6	+	41	5696	c.5465G>T	c.(5464-5466)tGt>tTt	p.C1822F	ABCA7_ENST00000435683.2_Splice_Site_p.C1684F|ABCA7_ENST00000433129.1_Splice_Site_p.C1822F	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1822	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCCTGTAGTGTTTTGGGCTG	0.557																																																	0													105.0	88.0	94.0					19																	1061782		2203	4300	6503	SO:0001630	splice_region_variant	0			AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"""ATP binding cassette transporters / subfamily A"""	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.5464-1G>T	19.37:g.1061782G>T			Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Missense_Mutation	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_GroES-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.C1822F	ENST00000263094.6	37	c.5465	CCDS12055.1	19	.	.	.	.	.	.	.	.	.	.	G	15.29	2.789812	0.50102	.	.	ENSG00000064687	ENST00000263094;ENST00000433129	D;D	0.95918	-3.85;-3.85	3.57	3.57	0.40892	ATPase, AAA+ type, core (1);ABC transporter-like (1);	.	.	.	.	D	0.96100	0.8729	L	0.43701	1.375	0.54753	D	0.999988	D;D	0.89917	1.0;0.993	D;P	0.73380	0.98;0.873	D	0.96454	0.9336	9	0.87932	D	0	.	13.8636	0.63574	0.0:0.0:1.0:0.0	.	947;1822	D6W5Y0;Q8IZY2	.;ABCA7_HUMAN	F	1822	ENSP00000263094:C1822F;ENSP00000414062:C1822F	ENSP00000263094:C1822F	C	+	2	0	ABCA7	1012782	1.000000	0.71417	0.999000	0.59377	0.245000	0.25701	9.194000	0.94962	1.809000	0.52856	0.561000	0.74099	TGT	ABCA7	-	superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	ENSG00000064687		0.557	ABCA7-001	KNOWN	basic|CCDS	protein_coding	ABCA7	HGNC	protein_coding	OTTHUMT00000394993.1	-	0.00	95	0	G	NM_019112	Missense_Mutation	1061782	+1	tier1	-	no_errors	ENST00000263094	ensembl	human	known	74_37	missense	5.71	66	4	SNP	1.000	T
ABCB5	340273	genome.wustl.edu	37	7	20766683	20766683	+	Silent	SNP	G	G	A			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr7:20766683G>A	ENST00000404938.2	+	22	3298	c.2646G>A	c.(2644-2646)gaG>gaA	p.E882E	ABCB5_ENST00000258738.6_Silent_p.E437E	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	882	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						AAGCTTTGGAGAATATACGTA	0.328																																																	0													93.0	98.0	96.0					7																	20766683		2203	4300	6503	SO:0001819	synonymous_variant	0			U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"""ATP binding cassette transporters / subfamily B"""	46	protein-coding gene	gene with protein product	"""P-glycoprotein ABCB5"", ""ATP-binding cassette protein"""	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.2646G>A	7.37:g.20766683G>A			A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Silent	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.E437	ENST00000404938.2	37	c.1311	CCDS55090.1	7																																																																																			ABCB5	-	pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom	ENSG00000004846		0.328	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	ABCB5	HGNC	protein_coding	OTTHUMT00000326736.2	-	0.00	23	0	G	NM_178559		20766683	+1	tier1	-	no_errors	ENST00000258738	ensembl	human	known	74_37	silent	20.22	71	18	SNP	1.000	A
ABL1	25	genome.wustl.edu	37	9	133760107	133760107	+	Silent	SNP	G	G	A	rs529175662	byFrequency	TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr9:133760107G>A	ENST00000318560.5	+	11	2811	c.2430G>A	c.(2428-2430)ccG>ccA	p.P810P		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	810	Pro-rich.		P -> L (in dbSNP:rs2229071). {ECO:0000269|PubMed:17344846}.		actin cytoskeleton organization (GO:0030036)|autophagy (GO:0006914)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dopamine (GO:1903351)|cellular response to oxidative stress (GO:0034599)|DNA damage induced protein phosphorylation (GO:0006975)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mismatch repair (GO:0006298)|mitochondrial depolarization (GO:0051882)|mitotic nuclear division (GO:0007067)|muscle cell differentiation (GO:0042692)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)|signal transduction in response to DNA damage (GO:0042770)	actin cytoskeleton (GO:0015629)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase binding (GO:0051019)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|SH3 domain binding (GO:0017124)|syntaxin binding (GO:0019905)			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Bosutinib(DB06616)|Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Ponatinib(DB08901)|Regorafenib(DB08896)	GCTCCAGCCCGCCCAACCTGA	0.622			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""								G|||	2	0.000399361	0.0008	0.0	5008	,	,		16956	0.0		0.0	False		,,,				2504	0.001							Dom	yes		9	9q34.1	25	v-abl Abelson murine leukemia viral oncogene homolog 1		L	0													15.0	19.0	18.0					9																	133760107		2200	4298	6498	SO:0001819	synonymous_variant	0			M14752	CCDS35165.1, CCDS35166.1	9q34.1	2014-09-17	2014-06-26		ENSG00000097007	ENSG00000097007		"""SH2 domain containing"""	76	protein-coding gene	gene with protein product		189980	"""v-abl Abelson murine leukemia viral oncogene homolog 1"", ""c-abl oncogene 1, receptor tyrosine kinase"", ""c-abl oncogene 1, non-receptor tyrosine kinase"""	ABL		1857987, 12626632	Standard	NM_007313		Approved	JTK7, c-ABL, p150	uc004bzv.3	P00519	OTTHUMG00000020813	ENST00000318560.5:c.2430G>A	9.37:g.133760107G>A			A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	Silent	SNP	pfam_F-actin_binding,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_F-actin_binding,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.P829	ENST00000318560.5	37	c.2487	CCDS35166.1	9																																																																																			ABL1	-	NULL	ENSG00000097007		0.622	ABL1-001	KNOWN	basic|CCDS	protein_coding	ABL1	HGNC	protein_coding	OTTHUMT00000054684.1	-	0.00	30	0	G	NM_007313		133760107	+1	tier1	-	no_errors	ENST00000372348	ensembl	human	known	74_37	silent	44.12	19	15	SNP	0.011	A
ACIN1	22985	genome.wustl.edu	37	14	23548783	23548783	+	Silent	SNP	A	A	T	rs78164858|rs148403158|rs5807202|rs3077646	byFrequency	TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr14:23548783A>T	ENST00000262710.1	-	6	2262	c.1935T>A	c.(1933-1935)tcT>tcA	p.S645S	ACIN1_ENST00000605057.1_Silent_p.S587S|ACIN1_ENST00000457657.1_Silent_p.S605S|ACIN1_ENST00000555352.1_5'Flank|ACIN1_ENST00000555053.1_Silent_p.S645S	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	645	Ser-rich.				apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		ATGCTGAACGAGAACGTGAAC	0.488																																																	0													229.0	214.0	219.0					14																	23548783		2203	4300	6503	SO:0001819	synonymous_variant	0			AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 152"""	604562	"""apoptotic chromatin condensation inducer in the nucleus"""	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.1935T>A	14.37:g.23548783A>T			B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Silent	SNP	pfam_SAP_dom,smart_SAP_dom,pfscan_SAP_dom	p.S645	ENST00000262710.1	37	c.1935	CCDS9587.1	14																																																																																			ACIN1	-	NULL	ENSG00000100813		0.488	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACIN1	HGNC	protein_coding	OTTHUMT00000071707.3		0.00	30	0	A	NM_014977		23548783	-1			no_errors	ENST00000262710	ensembl	human	known	74_37	silent	12.70	55	8	SNP	0.508	T
ACIN1	22985	genome.wustl.edu	37	14	23549875	23549875	+	Missense_Mutation	SNP	T	T	A			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr14:23549875T>A	ENST00000262710.1	-	6	1170	c.843A>T	c.(841-843)gaA>gaT	p.E281D	ACIN1_ENST00000605057.1_Missense_Mutation_p.E223D|ACIN1_ENST00000457657.1_Missense_Mutation_p.E241D|ACIN1_ENST00000555352.1_5'Flank|ACIN1_ENST00000555053.1_Missense_Mutation_p.E281D	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	281	Glu-rich.				apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		cttcatcatcttcttcctcct	0.448																																																	0													152.0	140.0	144.0					14																	23549875		2203	4300	6503	SO:0001583	missense	0			AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 152"""	604562	"""apoptotic chromatin condensation inducer in the nucleus"""	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.843A>T	14.37:g.23549875T>A	ENSP00000262710:p.Glu281Asp		B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Missense_Mutation	SNP	pfam_SAP_dom,smart_SAP_dom,pfscan_SAP_dom	p.E281D	ENST00000262710.1	37	c.843	CCDS9587.1	14	.	.	.	.	.	.	.	.	.	.	T	1.446	-0.566196	0.03910	.	.	ENSG00000100813	ENST00000262710;ENST00000457657;ENST00000555053	T;T;T	0.19532	2.14;2.14;2.14	5.57	-4.9	0.03094	.	.	.	.	.	T	0.05547	0.0146	N	0.03608	-0.345	0.09310	N	0.999991	B;B	0.14012	0.009;0.003	B;B	0.13407	0.009;0.004	T	0.39313	-0.9620	9	0.11485	T	0.65	-2.0759	1.0346	0.01545	0.1683:0.2523:0.3136:0.2658	.	281;281	G3V3M7;Q9UKV3	.;ACINU_HUMAN	D	281;241;281	ENSP00000262710:E281D;ENSP00000405677:E241D;ENSP00000451328:E281D	ENSP00000262710:E281D	E	-	3	2	ACIN1	22619715	0.061000	0.20836	0.065000	0.19835	0.152000	0.21847	-0.672000	0.05244	-0.454000	0.07066	0.528000	0.53228	GAA	ACIN1	-	NULL	ENSG00000100813		0.448	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACIN1	HGNC	protein_coding	OTTHUMT00000071707.3		0.00	19	0	T	NM_014977		23549875	-1			no_errors	ENST00000262710	ensembl	human	known	74_37	missense	14.29	36	6	SNP	0.224	A
ACTR3C	653857	genome.wustl.edu	37	7	149990455	149990455	+	Silent	SNP	T	T	C			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr7:149990455T>C	ENST00000539352.1	-	3	350	c.99A>G	c.(97-99)acA>acG	p.T33T	ACTR3C_ENST00000252071.4_Silent_p.T33T	NM_001164458.1	NP_001157930.1	Q9C0K3	ARP3C_HUMAN	ARP3 actin-related protein 3 homolog C (yeast)	33						extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.T33T(1)									TCCCCGTTAATGTACGTTCAC	0.468																																																	1	Substitution - coding silent(1)	kidney(1)											165.0	135.0	144.0					7																	149990455		692	1591	2283	SO:0001819	synonymous_variant	0				CCDS47744.1	7q36.1	2009-09-23			ENSG00000106526	ENSG00000106526			37282	protein-coding gene	gene with protein product						11162478, 14651955	Standard	NM_001164458		Approved	ARP11	uc022aps.1	Q9C0K3	OTTHUMG00000158323	ENST00000539352.1:c.99A>G	7.37:g.149990455T>C			Q5CZI4	Silent	SNP	pfam_Actin-related,smart_Actin-related	p.T33	ENST00000539352.1	37	c.99	CCDS47744.1	7																																																																																			ACTR3C	-	pfam_Actin-related,smart_Actin-related	ENSG00000106526		0.468	ACTR3C-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTR3C	HGNC	protein_coding	OTTHUMT00000350676.2		0.00	68	0	T			149990455	-1			no_errors	ENST00000252071	ensembl	human	known	74_37	silent	7.02	53	4	SNP	0.988	C
ADAD2	161931	genome.wustl.edu	37	16	84228731	84228731	+	Missense_Mutation	SNP	C	C	T	rs370124287		TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr16:84228731C>T	ENST00000315906.5	+	4	716	c.664C>T	c.(664-666)Ctc>Ttc	p.L222F	RP11-486L19.2_ENST00000536986.1_RNA|ADAD2_ENST00000268624.3_Missense_Mutation_p.L294F|RP11-486L19.2_ENST00000565643.1_RNA|RP11-486L19.2_ENST00000569834.1_RNA|RP11-486L19.2_ENST00000561900.1_RNA	NM_001145400.1	NP_001138872.1	Q8NCV1	ADAD2_HUMAN	adenosine deaminase domain containing 2	222					RNA processing (GO:0006396)		adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						CGGCTTTGACCTCCTGTTGGA	0.667																																																	0								C	PHE/LEU,PHE/LEU	1,4399	2.1+/-5.4	0,1,2199	39.0	40.0	40.0		664,880	2.8	0.0	16		40	0,8600		0,0,4300	no	missense,missense	ADAD2	NM_001145400.1,NM_139174.3	22,22	0,1,6499	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	222/584,294/666	84228731	1,12999	2200	4300	6500	SO:0001583	missense	0			AF447586	CCDS10944.1, CCDS45536.1	16q24.1	2007-05-31			ENSG00000140955	ENSG00000140955			30714	protein-coding gene	gene with protein product							Standard	NM_139174		Approved	TENRL, FLJ00337	uc002fhr.2	Q8NCV1	OTTHUMG00000137637	ENST00000315906.5:c.664C>T	16.37:g.84228731C>T	ENSP00000325153:p.Leu222Phe		B2RCL6|Q8NA94	Missense_Mutation	SNP	pfam_A_deamin,pfam_dsRNA-bd_dom,smart_A_deamin,pfscan_dsRNA-bd_dom,pfscan_A_deamin	p.L294F	ENST00000315906.5	37	c.880	CCDS45536.1	16	.	.	.	.	.	.	.	.	.	.	C	6.142	0.394461	0.11638	2.27E-4	0.0	ENSG00000140955	ENST00000315906;ENST00000268624	T;T	0.18174	2.26;2.23	4.81	2.85	0.33270	.	0.519226	0.17711	N	0.164571	T	0.08313	0.0207	N	0.08118	0	0.22866	N	0.998636	B;P	0.39717	0.207;0.684	B;B	0.37144	0.047;0.242	T	0.16689	-1.0394	10	0.59425	D	0.04	-9.5227	7.7914	0.29123	0.0:0.8057:0.0:0.1943	.	222;294	Q8NCV1;Q8NCV1-2	ADAD2_HUMAN;.	F	222;294	ENSP00000325153:L222F;ENSP00000268624:L294F	ENSP00000268624:L294F	L	+	1	0	ADAD2	82786232	0.999000	0.42202	0.027000	0.17364	0.006000	0.05464	1.197000	0.32211	0.557000	0.29117	-0.781000	0.03364	CTC	ADAD2	-	smart_A_deamin	ENSG00000140955		0.667	ADAD2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAD2	HGNC	protein_coding	OTTHUMT00000433385.1	-	0.00	103	0	C	NM_139174		84228731	+1	tier1	-	no_errors	ENST00000268624	ensembl	human	known	74_37	missense	6.35	59	4	SNP	0.982	T
ADAM19	8728	genome.wustl.edu	37	5	156924017	156924017	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr5:156924017G>T	ENST00000517905.1	-	14	1523	c.1479C>A	c.(1477-1479)caC>caA	p.H493Q	ADAM19_ENST00000430702.2_Missense_Mutation_p.H226Q|ADAM19_ENST00000394020.1_Missense_Mutation_p.H495Q|ADAM19_ENST00000257527.4_Missense_Mutation_p.H493Q			Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	493	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				heart development (GO:0007507)|membrane protein ectodomain proteolysis (GO:0006509)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGGTAGGGCAGTGGGGAGACT	0.627																																																	0													47.0	46.0	46.0					5																	156924017		2203	4300	6503	SO:0001583	missense	0			AF311317	CCDS4338.1	5q33.3	2010-06-24	2010-06-24		ENSG00000135074	ENSG00000135074		"""ADAM metallopeptidase domain containing"""	197	protein-coding gene	gene with protein product	"""meltrin beta"""	603640	"""a disintegrin and metalloproteinase domain 19 (meltrin beta)"""			9806848	Standard	NM_033274		Approved	MLTNB	uc003lwz.4	Q9H013	OTTHUMG00000130242	ENST00000517905.1:c.1479C>A	5.37:g.156924017G>T	ENSP00000428654:p.His493Gln		Q9BZL5|Q9UHP2	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.H495Q	ENST00000517905.1	37	c.1485		5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.11|14.11	2.436365|2.436365	0.43224|0.43224	.|.	.|.	ENSG00000135074|ENSG00000135074	ENST00000430702;ENST00000257527;ENST00000394020;ENST00000517905|ENST00000517374	T;T;T;T|.	0.10382|.	2.88;2.88;2.88;2.88|.	5.49|5.49	-6.0|-6.0	0.02206|0.02206	Blood coagulation inhibitor, Disintegrin (6);|.	0.606264|.	0.15652|.	N|.	0.251362|.	T|T	0.33089|0.33089	0.0851|0.0851	L|L	0.33339|0.33339	1.005|1.005	0.33895|0.33895	D|D	0.637823|0.637823	B;B;B|.	0.11235|.	0.002;0.004;0.002|.	B;B;B|.	0.12156|.	0.004;0.007;0.007|.	T|T	0.46048|0.46048	-0.9219|-0.9219	10|5	0.52906|.	T|.	0.07|.	.|.	6.3546|6.3546	0.21395|0.21395	0.1248:0.3602:0.4232:0.0918|0.1248:0.3602:0.4232:0.0918	.|.	493;493;226|.	Q9H013-2;Q9H013;E9PD32|.	.;ADA19_HUMAN;.|.	Q|N	226;493;495;493|64	ENSP00000414088:H226Q;ENSP00000257527:H493Q;ENSP00000377588:H495Q;ENSP00000428654:H493Q|.	ENSP00000257527:H493Q|.	H|T	-|-	3|2	2|0	ADAM19|ADAM19	156856595|156856595	0.759000|0.759000	0.28416|0.28416	0.958000|0.958000	0.39756|0.39756	0.984000|0.984000	0.73092|0.73092	-0.183000|-0.183000	0.09712|0.09712	-0.747000|-0.747000	0.04759|0.04759	0.557000|0.557000	0.71058|0.71058	CAC|ACT	ADAM19	-	pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,prints_Blood-coag_inhib_Disintegrin	ENSG00000135074		0.627	ADAM19-003	PUTATIVE	basic	protein_coding	ADAM19	HGNC	protein_coding	OTTHUMT00000373918.1	-	0.00	60	0	G	NM_033274		156924017	-1	tier1	-	no_errors	ENST00000394020	ensembl	human	known	74_37	missense	6.15	61	4	SNP	0.897	T
ADCK3	56997	genome.wustl.edu	37	1	227171737	227171737	+	Intron	SNP	G	G	T	rs1574184|rs375918113|rs201300405	byFrequency	TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr1:227171737G>T	ENST00000366779.1	+	16	4027				ADCK3_ENST00000458507.2_Intron|ADCK3_ENST00000433743.2_Intron|ADCK3_ENST00000478406.1_3'UTR|ADCK3_ENST00000366778.1_Intron|ADCK3_ENST00000366777.3_Intron			Q8NI60	ADCK3_HUMAN	aarF domain containing kinase 3						cell death (GO:0008219)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	9						GGTGTGTGTGGGGGGGGGGAC	0.677													G|||	1408	0.28115	0.2829	0.2767	5008	,	,		12588	0.2421		0.3877	False		,,,				2504	0.2127																0																																										SO:0001627	intron_variant	0			AJ278126	CCDS1557.1	1q42.11	2011-05-03	2010-10-01	2010-10-01	ENSG00000163050	ENSG00000163050			16812	protein-coding gene	gene with protein product	"""coenzyme Q8 homolog (yeast)"""	606980	"""chaperone-ABC1 (activity of bc1 complex, S.pombe)-like"", ""chaperone, ABC1 activity of bc1 complex like (S. pombe)"", ""chaperone, ABC1 activity of bc1 complex homolog (S. pombe)"""	CABC1			Standard	NM_020247		Approved	COQ8, SCAR9	uc001hqn.1	Q8NI60	OTTHUMG00000037621	ENST00000366779.1:c.1257-58G>T	1.37:g.227171737G>T			Q5T7A5|Q63HK0|Q8NCJ6|Q9HBQ1|Q9NQ67	RNA	SNP	-	NULL	ENST00000366779.1	37	NULL	CCDS1557.1	1																																																																																			ADCK3	-	-	ENSG00000163050		0.677	ADCK3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ADCK3	HGNC	protein_coding	OTTHUMT00000091712.1	-	0.00	45	0	G	NM_020247		227171737	+1	tier1	rs1574184	no_errors	ENST00000478406	ensembl	human	known	74_37	rna	40.74	32	22	SNP	0.000	T
ADCY3	109	genome.wustl.edu	37	2	25141535	25141535	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr2:25141535G>T	ENST00000260600.5	-	1	1173	c.322C>A	c.(322-324)Ctc>Atc	p.L108I		NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	108					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					GCCACGGCGAGGGAAGCCAGC	0.602																																																	0													99.0	106.0	103.0					2																	25141535		2203	4300	6503	SO:0001583	missense	0			AF033861	CCDS1715.1	2p23.3	2013-02-04			ENSG00000138031	ENSG00000138031	4.6.1.1	"""Adenylate cyclases"""	234	protein-coding gene	gene with protein product		600291				9920776	Standard	NM_004036		Approved	AC3	uc002rfs.4	O60266	OTTHUMG00000094765	ENST00000260600.5:c.322C>A	2.37:g.25141535G>T	ENSP00000260600:p.Leu108Ile		B3KT86|Q53T54|Q9UDB1	Missense_Mutation	SNP	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.L108I	ENST00000260600.5	37	c.322	CCDS1715.1	2	.	.	.	.	.	.	.	.	.	.	G	6.232	0.410894	0.11812	.	.	ENSG00000138031	ENST00000260600;ENST00000415879;ENST00000435135;ENST00000438445	T;T;T	0.80909	-1.43;-1.05;0.88	4.59	2.55	0.30701	.	0.643106	0.15179	N	0.276232	T	0.53094	0.1775	N	0.05441	-0.05	0.09310	N	0.999993	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.37820	-0.9689	10	0.09590	T	0.72	.	2.1182	0.03719	0.107:0.1518:0.4294:0.3118	.	108;108	B7ZLX9;O60266	.;ADCY3_HUMAN	I	108;83;108;108	ENSP00000260600:L108I;ENSP00000389799:L108I;ENSP00000406153:L108I	ENSP00000260600:L108I	L	-	1	0	ADCY3	24995039	0.728000	0.28080	0.098000	0.21074	0.342000	0.28953	1.722000	0.38042	2.098000	0.63641	0.563000	0.77884	CTC	ADCY3	-	NULL	ENSG00000138031		0.602	ADCY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY3	HGNC	protein_coding	OTTHUMT00000211574.2	-	0.00	83	0	G			25141535	-1	tier1	-	no_errors	ENST00000260600	ensembl	human	known	74_37	missense	5.19	73	4	SNP	0.007	T
ADCY8	114	genome.wustl.edu	37	8	131922079	131922079	+	Silent	SNP	G	G	A	rs559758167		TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr8:131922079G>A	ENST00000286355.5	-	6	3607	c.1515C>T	c.(1513-1515)gaC>gaT	p.D505D	ADCY8_ENST00000377928.3_Silent_p.D505D	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	505					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CAATCCTCATGTCAACATCGT	0.483										HNSCC(32;0.087)																																							0													213.0	162.0	179.0					8																	131922079		2203	4300	6503	SO:0001819	synonymous_variant	0			Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.1515C>T	8.37:g.131922079G>A				Silent	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.D505	ENST00000286355.5	37	c.1515	CCDS6363.1	8																																																																																			ADCY8	-	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	ENSG00000155897		0.483	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY8	HGNC	protein_coding	OTTHUMT00000380080.1	-	0.00	50	0	G			131922079	-1	tier1	-	no_errors	ENST00000286355	ensembl	human	known	74_37	silent	40.00	42	28	SNP	1.000	A
ADD2	119	genome.wustl.edu	37	2	70890714	70890714	+	Missense_Mutation	SNP	G	G	A	rs374483089		TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr2:70890714G>A	ENST00000264436.4	-	16	2468	c.2024C>T	c.(2023-2025)aCg>aTg	p.T675M	ADD2_ENST00000407644.2_Missense_Mutation_p.T675M|ADD2_ENST00000355733.3_3'UTR	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	675					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|barbed-end actin filament capping (GO:0051016)|hemopoiesis (GO:0030097)|positive regulation of protein binding (GO:0032092)|protein complex assembly (GO:0006461)	cytoplasmic membrane-bounded vesicle (GO:0016023)|F-actin capping protein complex (GO:0008290)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						ATCAACATCCGTGTCAGCACT	0.572																																																	0								G	MET/THR,MET/THR,	1,4405	2.1+/-5.4	0,1,2202	205.0	182.0	190.0		2024,2024,	5.4	1.0	2		190	0,8600		0,0,4300	no	missense,missense,utr-3	ADD2	NM_001185054.1,NM_001617.3,NM_017488.3	81,81,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,	675/727,675/727,	70890714	1,13005	2203	4300	6503	SO:0001583	missense	0			X58199	CCDS1906.1, CCDS1909.1, CCDS46318.1, CCDS54365.1	2p13.3	2008-02-05			ENSG00000075340	ENSG00000075340			244	protein-coding gene	gene with protein product		102681				1840603	Standard	NM_001617		Approved	ADDB	uc021vjc.1	P35612	OTTHUMG00000129710	ENST00000264436.4:c.2024C>T	2.37:g.70890714G>A	ENSP00000264436:p.Thr675Met		A8K4P2|B4DM17|D6W5G7|D6W5G8|Q13482|Q16412|Q59G82|Q5U5P4|Q6P0P2|Q6PGQ4|Q7Z688|Q7Z689|Q7Z690|Q7Z691	Missense_Mutation	SNP	pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N	p.T675M	ENST00000264436.4	37	c.2024	CCDS1906.1	2	.	.	.	.	.	.	.	.	.	.	G	14.17	2.454470	0.43634	2.27E-4	0.0	ENSG00000075340	ENST00000264436;ENST00000407644;ENST00000456320	T;T	0.48201	0.82;0.82	5.44	5.44	0.79542	.	0.295679	0.32671	N	0.005790	T	0.62097	0.2400	L	0.50333	1.59	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.64410	0.925;0.925	T	0.60311	-0.7288	10	0.48119	T	0.1	-9.7495	17.1121	0.86678	0.0:0.0:1.0:0.0	.	675;675	Q05DK5;P35612	.;ADDB_HUMAN	M	675;675;426	ENSP00000264436:T675M;ENSP00000384677:T675M	ENSP00000264436:T675M	T	-	2	0	ADD2	70744222	1.000000	0.71417	0.986000	0.45419	0.015000	0.08874	4.353000	0.59411	2.702000	0.92279	0.655000	0.94253	ACG	ADD2	-	NULL	ENSG00000075340		0.572	ADD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADD2	HGNC	protein_coding	OTTHUMT00000251918.4	-	0.00	38	0	G	NM_001617		70890714	-1	tier1	-	no_errors	ENST00000264436	ensembl	human	known	74_37	missense	52.05	35	38	SNP	0.997	A
AKAP6	9472	genome.wustl.edu	37	14	33293331	33293331	+	Silent	SNP	G	G	A			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr14:33293331G>A	ENST00000280979.4	+	13	6482	c.6312G>A	c.(6310-6312)ctG>ctA	p.L2104L	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	2104					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CCATCCAGCTGAGAAAAGGGG	0.433																																					Melanoma(49;821 1200 7288 13647 42351)												0													83.0	84.0	83.0					14																	33293331		2203	4300	6503	SO:0001819	synonymous_variant	0			AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.6312G>A	14.37:g.33293331G>A			A7E242|A7E2D4|O15028	Silent	SNP	smart_Spectrin/alpha-actinin	p.L2104	ENST00000280979.4	37	c.6312	CCDS9644.1	14																																																																																			AKAP6	-	NULL	ENSG00000151320		0.433	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP6	HGNC	protein_coding	OTTHUMT00000276617.2	-	0.00	25	0	G	NM_004274		33293331	+1	tier1	-	no_errors	ENST00000280979	ensembl	human	known	74_37	silent	21.88	25	7	SNP	0.988	A
AKR7A2	8574	genome.wustl.edu	37	1	19633579	19633579	+	Silent	SNP	G	G	T			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr1:19633579G>T	ENST00000235835.3	-	5	726	c.705C>A	c.(703-705)ggC>ggA	p.G235G	RNU6-1099P_ENST00000363533.1_RNA	NM_003689.3	NP_003680.2	O43488	ARK72_HUMAN	aldo-keto reductase family 7, member A2 (aflatoxin aldehyde reductase)	235					carbohydrate metabolic process (GO:0005975)|cellular aldehyde metabolic process (GO:0006081)|daunorubicin metabolic process (GO:0044597)|doxorubicin metabolic process (GO:0044598)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|electron carrier activity (GO:0009055)|phenanthrene-9,10-epoxide hydrolase activity (GO:0019119)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00461)|BRCA - Breast invasive adenocarcinoma(304;1.83e-05)|Kidney(64;0.000167)|GBM - Glioblastoma multiforme(114;0.00115)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		ACTTGTACTTGCCAGTCAGCA	0.637																																																	0													86.0	91.0	89.0					1																	19633579		2203	4300	6503	SO:0001819	synonymous_variant	0			AF026947	CCDS194.1	1p36.13	2010-09-30			ENSG00000053371	ENSG00000053371		"""Aldo-keto reductases"""	389	protein-coding gene	gene with protein product		603418				9576847	Standard	NM_003689		Approved	AFAR	uc001bbw.3	O43488	OTTHUMG00000002522	ENST00000235835.3:c.705C>A	1.37:g.19633579G>T			O75749|Q5TG63	Silent	SNP	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom	p.G235	ENST00000235835.3	37	c.705	CCDS194.1	1																																																																																			AKR7A2	-	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom	ENSG00000053371		0.637	AKR7A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKR7A2	HGNC	protein_coding	OTTHUMT00000007165.2		0.00	83	0	G	NM_003689		19633579	-1			no_errors	ENST00000235835	ensembl	human	known	74_37	silent	5.26	72	4	SNP	1.000	T
ALPK2	115701	genome.wustl.edu	37	18	56184191	56184191	+	Silent	SNP	C	C	A	rs201587462		TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr18:56184191C>A	ENST00000361673.3	-	9	6102	c.5889G>T	c.(5887-5889)ggG>ggT	p.G1963G		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1963	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TATTTCTGGTCCCATAGGCAA	0.537																																																	0													193.0	172.0	179.0					18																	56184191		2203	4300	6503	SO:0001819	synonymous_variant	0			AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.5889G>T	18.37:g.56184191C>A			Q6ZUX0|Q8NAT5|Q96L95	Silent	SNP	pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like_dom	p.G1963	ENST00000361673.3	37	c.5889	CCDS11966.2	18																																																																																			ALPK2	-	pfam_MHCK_EF2_kinase,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase	ENSG00000198796		0.537	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALPK2	HGNC	protein_coding	OTTHUMT00000256126.1		0.00	57	0	C	NM_052947		56184191	-1			no_errors	ENST00000361673	ensembl	human	known	74_37	silent	5.33	71	4	SNP	1.000	A
AMACR	23600	genome.wustl.edu	37	5	33988375	33988375	+	3'UTR	SNP	G	G	T			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr5:33988375G>T	ENST00000335606.6	-	0	2060				RP11-1084J3.4_ENST00000382079.3_3'UTR|AMACR_ENST00000514195.1_5'UTR|AMACR_ENST00000382072.2_3'UTR	NM_001167595.1|NM_014324.5	NP_001161067.1|NP_055139.4	Q9UHK6	AMACR_HUMAN	alpha-methylacyl-CoA racemase						bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	alpha-methylacyl-CoA racemase activity (GO:0008111)|receptor binding (GO:0005102)			endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	19						ctcagtccaaggagacacaaa	0.463																																																	0													40.0	37.0	38.0					5																	33988375		1528	3504	5032	SO:0001624	3_prime_UTR_variant	0			AF047020	CCDS3902.1, CCDS3903.1, CCDS54836.1	5p13.2	2012-05-16			ENSG00000242110	ENSG00000242110	5.1.99.4		451	protein-coding gene	gene with protein product		604489				9307041	Standard	NM_014324		Approved	RACE	uc003jij.3	Q9UHK6	OTTHUMG00000090734	ENST00000335606.6:c.*823C>A	5.37:g.33988375G>T			A5YM47|B8Y916|B8Y918|F8W9N1|O43673|Q3KT79|Q96GH1|Q9Y3Q1	RNA	SNP	-	NULL	ENST00000335606.6	37	NULL	CCDS3902.1	5																																																																																			AMACR	-	-	ENSG00000242110		0.463	AMACR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMACR	HGNC	protein_coding	OTTHUMT00000207467.1		0.00	29	0	G	NM_014324		33988375	-1			no_errors	ENST00000514195	ensembl	human	putative	74_37	rna	5.05	94	5	SNP	0.223	T
AMPH	273	genome.wustl.edu	37	7	38468129	38468129	+	Intron	SNP	T	T	A			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr7:38468129T>A	ENST00000356264.2	-	14	1398				AMPH_ENST00000428293.2_Intron|AMPH_ENST00000325590.5_Intron|AMPH_ENST00000471913.1_5'UTR	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin						endocytosis (GO:0006897)|learning (GO:0007612)|synaptic transmission (GO:0007268)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|leading edge membrane (GO:0031256)|synaptic vesicle (GO:0008021)	phospholipid binding (GO:0005543)			breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						ACACTGAATTTCTTCAGCATC	0.373																																																	0																																										SO:0001627	intron_variant	0				CCDS5456.1, CCDS47574.1	7p14-p13	2007-06-19	2007-06-19		ENSG00000078053	ENSG00000078053			471	protein-coding gene	gene with protein product		600418	"""amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen)"", ""amphiphysin (Stiff-Man syndrome with breast cancer 128kDa autoantigen)"""			8245793	Standard	NM_139316		Approved		uc003tgu.3	P49418	OTTHUMG00000023725	ENST00000356264.2:c.1182+1312A>T	7.37:g.38468129T>A			A4D1X8|A4D1X9|O43538|Q75MJ8|Q75MK5|Q75MM3|Q8N4G0	RNA	SNP	-	NULL	ENST00000356264.2	37	NULL	CCDS5456.1	7																																																																																			AMPH	-	-	ENSG00000078053		0.373	AMPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AMPH	HGNC	protein_coding	OTTHUMT00000226953.2	-	0.00	27	0	T	NM_001635		38468129	-1	tier1	-	no_errors	ENST00000471913	ensembl	human	known	74_37	rna	22.99	67	20	SNP	0.020	A
ANKS1A	23294	genome.wustl.edu	37	6	34949729	34949729	+	Missense_Mutation	SNP	T	T	C			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr6:34949729T>C	ENST00000360359.3	+	4	836	c.698T>C	c.(697-699)gTc>gCc	p.V233A	ANKS1A_ENST00000535627.1_Missense_Mutation_p.V233A	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	233					ephrin receptor signaling pathway (GO:0048013)|neuron remodeling (GO:0016322)|substrate-dependent cell migration (GO:0006929)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleus (GO:0005634)				cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						GTGGTCCAGGTCCTCCTCGAT	0.562																																																	0													113.0	105.0	108.0					6																	34949729		2203	4300	6503	SO:0001583	missense	0			D86982	CCDS4798.1	6p21.31	2013-01-10	2006-02-17	2006-02-17	ENSG00000064999	ENSG00000064999		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	20961	protein-coding gene	gene with protein product		608994	"""ankyrin repeat and SAM domain containing 1"", ""ankyrin repeat and sterile alpha motif domain containing 1"""	ANKS1		9039502	Standard	NM_015245		Approved	KIAA0229	uc003ojx.4	Q92625	OTTHUMG00000014559	ENST00000360359.3:c.698T>C	6.37:g.34949729T>C	ENSP00000353518:p.Val233Ala		A2RUC1|B4DQW8|Q5JYI9|Q5SYR2|Q86WQ7	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_PTB/PI_dom,pfam_SAM_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,smart_PTB/PI_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PTB/PI_dom,pfscan_SAM,prints_Ankyrin_rpt	p.V233A	ENST00000360359.3	37	c.698	CCDS4798.1	6	.	.	.	.	.	.	.	.	.	.	T	24.7	4.562200	0.86335	.	.	ENSG00000064999	ENST00000544150;ENST00000360359;ENST00000535627	T;T	0.63744	-0.06;-0.06	5.96	5.96	0.96718	Ankyrin repeat-containing domain (3);	0.153257	0.29799	N	0.011169	T	0.57036	0.2026	N	0.11756	0.17	0.80722	D	1	P;D	0.69078	0.788;0.997	P;D	0.79108	0.577;0.992	T	0.67635	-0.5620	10	0.56958	D	0.05	-19.2565	16.4484	0.83959	0.0:0.0:0.0:1.0	.	233;233	B4DQW8;Q92625	.;ANS1A_HUMAN	A	233	ENSP00000353518:V233A;ENSP00000438752:V233A	ENSP00000353518:V233A	V	+	2	0	ANKS1A	35057707	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.135000	0.64777	2.285000	0.76669	0.533000	0.62120	GTC	ANKS1A	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000064999		0.562	ANKS1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKS1A	HGNC	protein_coding	OTTHUMT00000040262.1		0.00	36	0	T	XM_166478		34949729	+1			no_errors	ENST00000360359	ensembl	human	known	74_37	missense	6.25	60	4	SNP	1.000	C
AOAH	313	genome.wustl.edu	37	7	36552785	36552785	+	3'UTR	SNP	A	A	T	rs116009588	byFrequency	TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr7:36552785A>T	ENST00000258749.5	-	0	2200				AOAH_ENST00000535891.1_3'UTR|AOAH_ENST00000538464.1_3'UTR|AOAH_ENST00000431169.1_Nonsense_Mutation_p.Y640*	NM_001637.3	NP_001628.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)						inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|lipopolysaccharide metabolic process (GO:0008653)|negative regulation of inflammatory response (GO:0050728)	extracellular region (GO:0005576)	acyloxyacyl hydrolase activity (GO:0050528)|catalytic activity (GO:0003824)|lipoprotein lipase activity (GO:0004465)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						GGCAGCCCCCATAGGGTTGTG	0.552																																																	0																																										SO:0001624	3_prime_UTR_variant	0			BC025698	CCDS5448.1, CCDS55102.1, CCDS75584.1	7p14-p12	2014-03-14			ENSG00000136250	ENSG00000136250	3.1.1.77		548	protein-coding gene	gene with protein product		102593				1883828	Standard	NM_001637		Approved		uc022abu.1	P28039	OTTHUMG00000023566	ENST00000258749.5:c.*73T>A	7.37:g.36552785A>T			A4D1Y5|B7Z490|Q53F13	Nonsense_Mutation	SNP	pfam_Lipase_GDSL,pfam_SapB_2,superfamily_Saposin-like,smart_SaposinB,pfscan_SaposinB	p.Y640*	ENST00000258749.5	37	c.1920	CCDS5448.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	34|34	5.360179|5.360179	0.95877|0.95877	.|.	.|.	ENSG00000136250|ENSG00000136250	ENST00000544647|ENST00000431169	.|.	.|.	.|.	3.11|3.11	-3.8|-3.8	0.04307|0.04307	.|.	.|.	.|.	.|.	.|.	T|.	0.11537|.	0.0281|.	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.30297|.	-0.9983|.	5|.	0.87932|0.07030	D|T	0|0.85	.|.	3.0574|3.0574	0.06189|0.06189	0.3349:0.0:0.3655:0.2996|0.3349:0.0:0.3655:0.2996	.|.	.|.	.|.	.|.	R|X	640|640	.|.	ENSP00000441635:W640R|ENSP00000405683:Y640X	W|Y	-|-	1|3	0|2	AOAH|AOAH	36519310|36519310	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.011000|0.011000	0.07611|0.07611	-0.113000|-0.113000	0.10774|0.10774	-0.788000|-0.788000	0.04504|0.04504	0.449000|0.449000	0.29647|0.29647	TGG|TAT	AOAH	-	NULL	ENSG00000136250		0.552	AOAH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AOAH	HGNC	protein_coding	OTTHUMT00000219829.2	-	0.00	47	0	A	NM_001637		36552785	-1	tier1	-	no_errors	ENST00000431169	ensembl	human	putative	74_37	nonsense	71.28	27	67	SNP	0.000	T
LINC00671	388387	genome.wustl.edu	37	17	41025454	41025454	+	lincRNA	SNP	G	G	T			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr17:41025454G>T	ENST00000301683.3	-	0	3916									long intergenic non-protein coding RNA 671																		GAACCTAGTAGCACCAGCATC	0.502																																																	0																																												0			AK055784, BC122868, DC361857		17q21.31	2012-10-12			ENSG00000213373	ENSG00000213373		"""Long non-coding RNAs"""	44339	non-coding RNA	RNA, long non-coding							Standard	NR_027254		Approved		uc010whe.1		OTTHUMG00000132654		17.37:g.41025454G>T				RNA	SNP	-	NULL	ENST00000301683.3	37	NULL		17																																																																																			AOC4P	-	-	ENSG00000260105		0.502	LINC00671-001	KNOWN	basic	lincRNA	AOC4P	HGNC	lincRNA	OTTHUMT00000255905.2	-	0.00	27	0	G	NR_027254		41025454	+1	tier1	-	no_errors	ENST00000563852	ensembl	human	known	74_37	rna	7.69	48	4	SNP	1.000	T
AP4E1	23431	genome.wustl.edu	37	15	51285652	51285652	+	Nonsense_Mutation	SNP	G	G	T			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr15:51285652G>T	ENST00000261842.5	+	17	2282	c.2176G>T	c.(2176-2178)Gaa>Taa	p.E726*	AP4E1_ENST00000560508.1_Nonsense_Mutation_p.E651*	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	726					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	coated pit (GO:0005905)|Golgi apparatus (GO:0005794)|membrane coat (GO:0030117)				breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		AACTGGTGATGAAAGTGGAGC	0.393																																																	0													91.0	80.0	84.0					15																	51285652		2196	4294	6490	SO:0001587	stop_gained	0			AB030653	CCDS32240.1, CCDS58362.1	15q21.2	2014-09-17			ENSG00000081014	ENSG00000081014			573	protein-coding gene	gene with protein product		607244				10436028, 21620353	Standard	NM_007347		Approved	AP-4-EPSILON, SPG51	uc001zyx.2	Q9UPM8	OTTHUMG00000172458	ENST00000261842.5:c.2176G>T	15.37:g.51285652G>T	ENSP00000261842:p.Glu726*		A0AVD6|A1L4A9|A6NNX7|H0YKX4|Q68D31|Q9Y588	Nonsense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,pfam_Coatomer_bsu_C,superfamily_ARM-type_fold,pirsf_AP4_complex_esu	p.E726*	ENST00000261842.5	37	c.2176	CCDS32240.1	15	.	.	.	.	.	.	.	.	.	.	G	36	5.933716	0.97122	.	.	ENSG00000081014	ENST00000261842	.	.	.	5.29	1.81	0.25067	.	0.411149	0.28476	N	0.015215	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	-5.0844	6.238	0.20774	0.2554:0.1454:0.5992:0.0	.	.	.	.	X	726	.	ENSP00000261842:E726X	E	+	1	0	AP4E1	49072944	0.636000	0.27207	0.942000	0.38095	0.819000	0.46315	1.740000	0.38228	0.569000	0.29329	0.563000	0.77884	GAA	AP4E1	-	pirsf_AP4_complex_esu	ENSG00000081014		0.393	AP4E1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	AP4E1	HGNC	protein_coding	OTTHUMT00000418656.1		0.00	23	0	G			51285652	+1			no_errors	ENST00000261842	ensembl	human	known	74_37	nonsense	5.97	63	4	SNP	0.026	T
APC	324	genome.wustl.edu	37	5	112151228	112151229	+	Frame_Shift_Ins	INS	-	-	T			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr5:112151228_112151229insT	ENST00000457016.1	+	9	1251_1252	c.871_872insT	c.(871-873)gttfs	p.V291fs	APC_ENST00000508376.2_Frame_Shift_Ins_p.V291fs|APC_ENST00000257430.4_Frame_Shift_Ins_p.V291fs			P25054	APC_HUMAN	adenomatous polyposis coli	291	Leu-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.V291F(1)|p.L292fs*4(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)		AACAGCCAGTGTTTTGAGTTCT	0.396		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)		yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	2	Substitution - Missense(1)|Insertion - Frameshift(1)	large_intestine(2)																																								SO:0001589	frameshift_variant	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.875dupT	5.37:g.112151232_112151232dupT	ENSP00000413133:p.Val291fs		D3DT03|Q15162|Q15163|Q93042	Frame_Shift_Ins	INS	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.L292fs	ENST00000457016.1	37	c.871_872	CCDS4107.1	5																																																																																			APC	-	NULL	ENSG00000134982		0.396	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	APC	HGNC	protein_coding	OTTHUMT00000250738.2		0.00	50	0	-	NM_000038		112151229	+1	tier1		no_errors	ENST00000257430	ensembl	human	known	74_37	frame_shift_ins	53.70	25	29	INS	1.000:1.000	T
ARAP2	116984	genome.wustl.edu	37	4	36179500	36179500	+	Missense_Mutation	SNP	T	T	G			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr4:36179500T>G	ENST00000303965.4	-	9	2295	c.1806A>C	c.(1804-1806)aaA>aaC	p.K602N		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	602	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				regulation of ARF GTPase activity (GO:0032312)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						CAGTAAAAATTTTTGCCTTAT	0.363																																																	0													144.0	143.0	143.0					4																	36179500		2203	4300	6503	SO:0001583	missense	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.1806A>C	4.37:g.36179500T>G	ENSP00000302895:p.Lys602Asn		Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_SAM_2,pfam_Ras-assoc,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP	p.K602N	ENST00000303965.4	37	c.1806	CCDS3441.1	4	.	.	.	.	.	.	.	.	.	.	T	19.88	3.908414	0.72868	.	.	ENSG00000047365	ENST00000303965	T	0.37058	1.22	5.33	2.94	0.34122	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.065798	0.64402	D	0.000016	T	0.53769	0.1817	M	0.66297	2.02	0.32799	N	0.5001	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.977	T	0.63844	-0.6545	10	0.87932	D	0	.	8.954	0.35807	0.0:0.1516:0.0:0.8484	.	532;602	A7E2A5;Q8WZ64	.;ARAP2_HUMAN	N	602	ENSP00000302895:K602N	ENSP00000302895:K602N	K	-	3	2	ARAP2	35855895	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	2.894000	0.48640	0.368000	0.24481	0.397000	0.26171	AAA	ARAP2	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000047365		0.363	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARAP2	HGNC	protein_coding	OTTHUMT00000215074.2	-	0.00	12	0	T	NM_015230		36179500	-1	tier1	-	no_errors	ENST00000303965	ensembl	human	known	74_37	missense	31.03	20	9	SNP	1.000	G
ARHGAP10	79658	genome.wustl.edu	37	4	148968114	148968114	+	Missense_Mutation	SNP	G	G	T	rs200578124	byFrequency	TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr4:148968114G>T	ENST00000336498.3	+	20	2178	c.1939G>T	c.(1939-1941)Gtg>Ttg	p.V647L	ARHGAP10_ENST00000414545.2_Missense_Mutation_p.V296L	NM_024605.3	NP_078881.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 10	1347					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		CCCGTCTCCCGTGACTACAGC	0.522																																																	0													87.0	88.0	88.0					4																	148968114		2203	4300	6503	SO:0001583	missense	0			BC047914	CCDS34075.1	4q31.23	2013-09-20			ENSG00000071205	ENSG00000071205		"""Rho GTPase activating proteins"""	26099	protein-coding gene	gene with protein product		609746				8288572	Standard	NM_024605		Approved	FLJ20896, FLJ41791, GRAF2	uc003ilf.3	A1A4S6	OTTHUMG00000161460	ENST00000336498.3:c.1939G>T	4.37:g.148968114G>T	ENSP00000336923:p.Val647Leu		Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_RhoGAP_dom,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_RhoGAP_dom	p.V647L	ENST00000336498.3	37	c.1939	CCDS34075.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.016|0.016	-1.519746|-1.519746	0.00967|0.00967	.|.	.|.	ENSG00000071205|ENSG00000071205	ENST00000507661|ENST00000336498;ENST00000414545	.|T;T	.|0.16597	.|3.17;2.33	5.77|5.77	4.52|4.52	0.55395|0.55395	.|.	.|0.560290	.|0.20529	.|N	.|0.090543	T|T	0.08537|0.08537	0.0212|0.0212	N|N	0.08118|0.08118	0|0	0.19300|0.19300	N|N	0.999979|0.999979	.|B;B;B;B	.|0.14805	.|0.008;0.011;0.0;0.001	.|B;B;B;B	.|0.12156	.|0.007;0.003;0.0;0.002	T|T	0.33777|0.33777	-0.9855|-0.9855	5|10	.|0.22109	.|T	.|0.4	.|.	9.4631|9.4631	0.38796|0.38796	0.9178:0.0:0.0822:0.0|0.9178:0.0:0.0822:0.0	.|.	.|80;228;296;647	.|Q9H7G7;Q86T21;E7EUW5;A1A4S6	.|.;.;.;RHG10_HUMAN	L|L	324|647;296	.|ENSP00000336923:V647L;ENSP00000406624:V296L	.|ENSP00000336923:V647L	R|V	+|+	2|1	0|0	ARHGAP10|ARHGAP10	149187564|149187564	0.010000|0.010000	0.17322|0.17322	0.473000|0.473000	0.27253|0.27253	0.040000|0.040000	0.13550|0.13550	1.517000|1.517000	0.35867|0.35867	1.004000|1.004000	0.39156|0.39156	-0.290000|-0.290000	0.09829|0.09829	CGT|GTG	ARHGAP10	-	NULL	ENSG00000071205		0.522	ARHGAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP10	HGNC	protein_coding	OTTHUMT00000365005.1		0.00	44	0	G	NM_024605		148968114	+1			no_errors	ENST00000336498	ensembl	human	known	74_37	missense	6.67	42	3	SNP	0.654	T
ARHGAP31	57514	genome.wustl.edu	37	3	119132712	119132712	+	Missense_Mutation	SNP	G	G	A			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr3:119132712G>A	ENST00000264245.4	+	12	2468	c.1936G>A	c.(1936-1938)Gat>Aat	p.D646N		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	646					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						GGATGAAGATGATCTGGCCAA	0.473																																					Pancreas(7;176 297 5394 51128 51241)												0													83.0	82.0	82.0					3																	119132712		1954	4156	6110	SO:0001583	missense	0				CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"""Rho GTPase activating proteins"""	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.1936G>A	3.37:g.119132712G>A	ENSP00000264245:p.Asp646Asn		Q9ULL6	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.D646N	ENST00000264245.4	37	c.1936	CCDS43135.1	3	.	.	.	.	.	.	.	.	.	.	G	31	5.082276	0.94050	.	.	ENSG00000031081	ENST00000264245;ENST00000543280	T	0.10192	2.9	5.26	5.26	0.73747	.	0.000000	0.64402	D	0.000010	T	0.32315	0.0825	M	0.62723	1.935	0.49798	D	0.999827	D	0.89917	1.0	D	0.91635	0.999	T	0.00697	-1.1605	10	0.59425	D	0.04	.	18.043	0.89324	0.0:0.0:1.0:0.0	.	646	Q2M1Z3	RHG31_HUMAN	N	646	ENSP00000264245:D646N	ENSP00000264245:D646N	D	+	1	0	ARHGAP31	120615402	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	6.986000	0.76200	2.746000	0.94184	0.655000	0.94253	GAT	ARHGAP31	-	NULL	ENSG00000031081		0.473	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP31	HGNC	protein_coding	OTTHUMT00000354942.2	-	0.00	30	0	G			119132712	+1	tier1	-	no_errors	ENST00000264245	ensembl	human	known	74_37	missense	41.54	38	27	SNP	0.999	A
ARHGEF10	9639	genome.wustl.edu	37	8	1846630	1846630	+	Missense_Mutation	SNP	C	C	T			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr8:1846630C>T	ENST00000398564.1	+	15	1664	c.1664C>T	c.(1663-1665)aCg>aTg	p.T555M	ARHGEF10_ENST00000349830.3_Missense_Mutation_p.T530M|ARHGEF10_ENST00000520359.1_Missense_Mutation_p.T492M|ARHGEF10_ENST00000262112.6_Missense_Mutation_p.T555M|ARHGEF10_ENST00000518288.1_Missense_Mutation_p.T554M|ARHGEF10_ENST00000398560.1_Missense_Mutation_p.T516M			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	555	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				centrosome duplication (GO:0051298)|myelination in peripheral nervous system (GO:0022011)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cytosol (GO:0005829)	kinesin binding (GO:0019894)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		GATCGAACCACGCTCTACAGC	0.637																																																	0													162.0	103.0	123.0					8																	1846630		2203	4300	6503	SO:0001583	missense	0			AF009205	CCDS34794.1	8p23	2014-09-17			ENSG00000104728	ENSG00000104728		"""Rho guanine nucleotide exchange factors"""	14103	protein-coding gene	gene with protein product		608136				9205841, 16896804	Standard	XM_005266039		Approved	KIAA0294, Gef10	uc003wpr.3	O15013	OTTHUMG00000163626	ENST00000398564.1:c.1664C>T	8.37:g.1846630C>T	ENSP00000381571:p.Thr555Met		O14665|Q2KHR8|Q68D55|Q8IWD9|Q8IY77	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,smart_DH-domain,pfscan_DH-domain	p.T555M	ENST00000398564.1	37	c.1664		8	.	.	.	.	.	.	.	.	.	.	C	15.70	2.910808	0.52439	.	.	ENSG00000104728	ENST00000349830;ENST00000520359;ENST00000518288;ENST00000398560;ENST00000398564;ENST00000262112;ENST00000522435	T;T;T;T;T;T;T	0.32753	1.44;1.44;1.44;1.44;1.44;1.44;1.44	4.87	4.87	0.63330	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	T	0.60818	0.2298	M	0.82517	2.595	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.998;0.999;0.999	T	0.68454	-0.5404	10	0.87932	D	0	-24.9349	18.0189	0.89249	0.0:1.0:0.0:0.0	.	555;516;492;530	O15013;E9PB39;O15013-7;O15013-5	ARHGA_HUMAN;.;.;.	M	530;492;554;516;555;555;203	ENSP00000340297:T530M;ENSP00000427909:T492M;ENSP00000431012:T554M;ENSP00000381568:T516M;ENSP00000381571:T555M;ENSP00000262112:T555M;ENSP00000427768:T203M	ENSP00000262112:T555M	T	+	2	0	ARHGEF10	1834037	1.000000	0.71417	0.032000	0.17829	0.014000	0.08584	7.098000	0.76974	2.211000	0.71520	0.650000	0.86243	ACG	ARHGEF10	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	ENSG00000104728		0.637	ARHGEF10-203	KNOWN	basic	protein_coding	ARHGEF10	HGNC	protein_coding		-	0.00	90	0	C			1846630	+1	tier1	-	no_errors	ENST00000398564	ensembl	human	known	74_37	missense	81.25	9	39	SNP	0.991	T
ARHGEF4	50649	genome.wustl.edu	37	2	131798851	131798851	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr2:131798851G>T	ENST00000326016.5	+	9	1672	c.1153G>T	c.(1153-1155)Gcc>Tcc	p.A385S	ARHGEF4_ENST00000525839.1_Missense_Mutation_p.A385S|ARHGEF4_ENST00000428230.2_Intron|ARHGEF4_ENST00000409303.1_Missense_Mutation_p.A325S|ARHGEF4_ENST00000355771.3_Missense_Mutation_p.A314S|ARHGEF4_ENST00000392953.3_Missense_Mutation_p.A385S	NM_015320.2	NP_056135.2	Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor (GEF) 4	385	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|protein domain specific binding (GO:0019904)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		CCACCCCAACGCCTGCGTGGA	0.577																																																	0													118.0	111.0	113.0					2																	131798851		2203	4300	6503	SO:0001583	missense	0			AL137289	CCDS2165.1, CCDS42754.1	2q22	2013-01-10			ENSG00000136002	ENSG00000136002		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	684	protein-coding gene	gene with protein product	"""APC-stimulated guanine nucleotide exchange factor"""	605216				10873612	Standard	NM_015320		Approved	STM6, KIAA1112, ASEF	uc002tsa.1	Q9NR80	OTTHUMG00000131657	ENST00000326016.5:c.1153G>T	2.37:g.131798851G>T	ENSP00000316845:p.Ala385Ser		Q9HDC6|Q9UPP0	Missense_Mutation	SNP	pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.A385S	ENST00000326016.5	37	c.1153	CCDS2165.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.400229|5.400229	0.96030|0.96030	.|.	.|.	ENSG00000136002|ENSG00000136002	ENST00000326016;ENST00000392953;ENST00000525839;ENST00000409303;ENST00000355771|ENST00000532720	T;T;T;T;T|.	0.66815|.	-0.23;-0.23;-0.23;-0.23;-0.23|.	5.19|5.19	5.19|5.19	0.71726|0.71726	Dbl homology (DH) domain (5);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.57403|0.57403	0.2051|0.2051	L|L	0.33753|0.33753	1.03|1.03	0.80722|0.80722	D|D	1|1	D;D;D|.	0.65815|.	0.995;0.994;0.995|.	D;D;D|.	0.81914|.	0.995;0.991;0.995|.	T|T	0.53380|0.53380	-0.8447|-0.8447	10|5	0.56958|.	D|.	0.05|.	.|.	16.2024|16.2024	0.82095|0.82095	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	325;385;385|.	E9PEM0;Q9NR80-4;Q9NR80|.	.;.;ARHG4_HUMAN|.	S|L	385;385;385;325;314|1	ENSP00000316845:A385S;ENSP00000376680:A385S;ENSP00000432267:A385S;ENSP00000387285:A325S;ENSP00000348017:A314S|.	ENSP00000316845:A385S|.	A|R	+|+	1|2	0|0	ARHGEF4|ARHGEF4	131515321|131515321	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.991000|0.991000	0.79684|0.79684	6.182000|6.182000	0.71995|0.71995	2.415000|2.415000	0.81967|0.81967	0.561000|0.561000	0.74099|0.74099	GCC|CGC	ARHGEF4	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	ENSG00000136002		0.577	ARHGEF4-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	ARHGEF4	HGNC	protein_coding	OTTHUMT00000254554.4		0.00	38	0	G			131798851	+1			no_errors	ENST00000326016	ensembl	human	known	74_37	missense	6.90	27	2	SNP	1.000	T
ARID1A	8289	genome.wustl.edu	37	1	27099397	27099397	+	Nonsense_Mutation	SNP	C	C	T			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr1:27099397C>T	ENST00000324856.7	+	14	4005	c.3634C>T	c.(3634-3636)Cag>Tag	p.Q1212*	ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q829*|ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q1212*|ARID1A_ENST00000540690.1_5'Flank	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1212					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)	p.Q1212fs*4(1)|p.Q1212*(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CCCTGGGTATCAGCCCAGTAT	0.483			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																			Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	2	Substitution - Nonsense(1)|Deletion - Frameshift(1)	urinary_tract(1)|ovary(1)											95.0	95.0	95.0					1																	27099397		2203	4300	6503	SO:0001587	stop_gained	0			AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.3634C>T	1.37:g.27099397C>T	ENSP00000320485:p.Gln1212*		D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Nonsense_Mutation	SNP	pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.Q1212*	ENST00000324856.7	37	c.3634	CCDS285.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	42|42	9.669594|9.669594	0.99234|0.99234	.|.	.|.	ENSG00000117713|ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152|ENST00000430799	.|.	.|.	.|.	5.34|5.34	5.34|5.34	0.76211|0.76211	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.75184	.|0.3815	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.72893	.|-0.4154	.|4	0.44086|.	T|.	0.13|.	-6.4258|-6.4258	19.2435|19.2435	0.93893|0.93893	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|L	1212;1212;829|108	.|.	ENSP00000320485:Q1212X|.	Q|S	+|+	1|2	0|0	ARID1A|ARID1A	26971984|26971984	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.007000|7.007000	0.76335|0.76335	2.791000|2.791000	0.96007|0.96007	0.655000|0.655000	0.94253|0.94253	CAG|TCA	ARID1A	-	NULL	ENSG00000117713		0.483	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARID1A	HGNC	protein_coding	OTTHUMT00000011437.2		0.00	21	0	C	NM_139135		27099397	+1			no_errors	ENST00000324856	ensembl	human	known	74_37	nonsense	7.41	25	2	SNP	1.000	T
ARSA	410	genome.wustl.edu	37	22	51065261	51065261	+	Splice_Site	SNP	C	C	T	rs146371968	byFrequency	TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr22:51065261C>T	ENST00000547307.1	-	3	1084		c.e3+1		ARSA_ENST00000356098.5_Splice_Site|ARSA_ENST00000547805.1_Splice_Site|ARSA_ENST00000395621.3_Splice_Site|ARSA_ENST00000453344.2_Splice_Site|ARSA_ENST00000216124.5_Splice_Site|ARSA_ENST00000395619.3_Splice_Site			P15289	ARSA_HUMAN	arylsulfatase A						autophagy (GO:0006914)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|central nervous system development (GO:0007417)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to methylmercury (GO:0051597)|response to nutrient (GO:0007584)|response to pH (GO:0009268)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum lumen (GO:0005788)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|cerebroside-sulfatase activity (GO:0004098)|sulfuric ester hydrolase activity (GO:0008484)			endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|skin(1)	9		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	Micafungin(DB01141)|Suramin(DB04786)	AGATCACTTACGTGAGAGGCA	0.627																																																	0			GRCh37	CS951348	ARSA	S	rs146371968	C	,,,,	1,4405	2.1+/-5.4	0,1,2202	108.0	124.0	118.0		,,,,	5.4	1.0	22	dbSNP_134	118	0,8600		0,0,4300	no	splice-5,splice-5,splice-5,splice-5,splice-5	ARSA	NM_000487.5,NM_001085425.2,NM_001085426.2,NM_001085427.2,NM_001085428.2	,,,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,,,	,,,,	51065261	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	0			X52150	CCDS14100.1, CCDS46736.1, CCDS14100.2	22q13.33	2013-09-19			ENSG00000100299	ENSG00000100299	3.1.6.8	"""Arylsulfatase family"""	713	protein-coding gene	gene with protein product	"""metachromatic leucodystrophy"""	607574				15772092	Standard	NM_000487		Approved		uc003bmz.5	P15289	OTTHUMG00000150180	ENST00000547307.1:c.678+1G>A	22.37:g.51065261C>T			B2RCA6|B7XD04|F8WCC8|Q6ICI5|Q96CJ0	Splice_Site	SNP	-	e3+1	ENST00000547307.1	37	c.684+1		22	.	.	.	.	.	.	.	.	.	.	C	17.68	3.448901	0.63178	2.27E-4	0.0	ENSG00000100299	ENST00000356098;ENST00000216124;ENST00000547307;ENST00000547805;ENST00000395621;ENST00000453344;ENST00000395619	.	.	.	5.38	5.38	0.77491	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.6247	0.84967	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ARSA	49412127	1.000000	0.71417	1.000000	0.80357	0.564000	0.35744	7.229000	0.78088	2.538000	0.85594	0.511000	0.50034	.	ARSA	-	-	ENSG00000100299		0.627	ARSA-201	KNOWN	basic|appris_candidate	protein_coding	ARSA	HGNC	protein_coding		-	0.00	40	0	C	NM_000487	Intron	51065261	-1	tier1	rs146371968	no_errors	ENST00000216124	ensembl	human	known	74_37	splice_site	84.62	4	22	SNP	1.000	T
ARSD	414	genome.wustl.edu	37	X	2838661	2838661	+	Silent	SNP	G	G	T			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chrX:2838661G>T	ENST00000381154.1	-	4	495	c.420C>A	c.(418-420)ggC>ggA	p.G140G	ARSD_ENST00000217890.6_5'UTR	NM_001669.3	NP_001660.2	P51689	ARSD_HUMAN	arylsulfatase D	140					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			large_intestine(3)|lung(3)	6		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CGGTTGCATAGCCATGCTGCT	0.537																																																	0													96.0	73.0	81.0					X																	2838661		2203	4300	6503	SO:0001819	synonymous_variant	0			X83572	CCDS35196.1	Xp22.3	2013-02-14			ENSG00000006756	ENSG00000006756		"""Arylsulfatase family"""	717	protein-coding gene	gene with protein product		300002				7720070	Standard	NM_001669		Approved		uc004cqy.3	P51689	OTTHUMG00000021077	ENST00000381154.1:c.420C>A	X.37:g.2838661G>T			Q9UHJ8	Silent	SNP	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	p.G140	ENST00000381154.1	37	c.420	CCDS35196.1	X																																																																																			ARSD	-	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	ENSG00000006756		0.537	ARSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARSD	HGNC	protein_coding	OTTHUMT00000055636.1		0.00	16	0	G			2838661	-1			no_errors	ENST00000381154	ensembl	human	known	74_37	silent	8.89	41	4	SNP	0.964	T
ATF7	11016	genome.wustl.edu	37	12	53926321	53926321	+	Silent	SNP	G	G	T			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr12:53926321G>T	ENST00000548446.2	-	8	892	c.780C>A	c.(778-780)ggC>ggA	p.G260G	RP11-793H13.10_ENST00000591834.1_Silent_p.G249G|ATF7_ENST00000415113.1_Silent_p.G228G|ATF7_ENST00000420353.2_Silent_p.G249G|ATF7_ENST00000456903.4_Silent_p.G249G|ATF7_ENST00000328463.7_Silent_p.G260G			P17544	ATF7_HUMAN	activating transcription factor 7	260	Transactivation domain.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|mitogen-activated protein kinase binding (GO:0051019)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9					Pseudoephedrine(DB00852)	GTATAGGGTGGCCAGAGGGAG	0.527																																																	0													62.0	60.0	61.0					12																	53926321		1921	4137	6058	SO:0001819	synonymous_variant	0			X52943	CCDS44906.1, CCDS58238.1	12q13	2013-01-10				ENSG00000170653		"""basic leucine zipper proteins"""	792	protein-coding gene	gene with protein product		606371				1694576, 11278933	Standard	NM_006856		Approved	ATFA	uc001sdz.3	P17544	OTTHUMG00000169776	ENST00000548446.2:c.780C>A	12.37:g.53926321G>T			A5D6Y4|B2RMP1|B4DQL4|Q13814|Q8IVR8|Q9UD83	Silent	SNP	pfam_bZIP,smart_Znf_C2H2-like,smart_bZIP,pirsf_TF_cAMP-dep,pfscan_Znf_C2H2,pfscan_bZIP	p.G260	ENST00000548446.2	37	c.780		12																																																																																			ATF7	-	pirsf_TF_cAMP-dep	ENSG00000170653		0.527	ATF7-007	KNOWN	NMD_exception|basic|appris_candidate_longest	protein_coding	ATF7	HGNC	protein_coding	OTTHUMT00000406302.2		0.00	62	0	G	NM_001130059		53926321	-1			no_errors	ENST00000328463	ensembl	human	known	74_37	silent	6.67	56	4	SNP	1.000	T
ATG13	9776	genome.wustl.edu	37	11	46690365	46690365	+	Nonsense_Mutation	SNP	G	G	T			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr11:46690365G>T	ENST00000434074.1	+	15	1941	c.1252G>T	c.(1252-1254)Gag>Tag	p.E418*	ATG13_ENST00000451945.1_Nonsense_Mutation_p.E381*|ATG13_ENST00000529655.1_Nonsense_Mutation_p.E381*|ATG13_ENST00000530500.1_Nonsense_Mutation_p.E302*|ATG13_ENST00000528494.1_Nonsense_Mutation_p.E451*|ATG13_ENST00000526508.1_Nonsense_Mutation_p.E418*|ATG13_ENST00000524625.1_Nonsense_Mutation_p.E381*|ATG13_ENST00000312040.4_Nonsense_Mutation_p.E418*|ATG13_ENST00000359513.4_Nonsense_Mutation_p.E418*	NM_001205120.1	NP_001192049.1	O75143	ATG13_HUMAN	autophagy related 13	418					autophagic vacuole assembly (GO:0000045)	ATG1/UKL1 signaling complex (GO:0034273)|cytosol (GO:0005829)|pre-autophagosomal structure (GO:0000407)|ULK1-ATG13-FIP200 complex (GO:0070969)	protein kinase binding (GO:0019901)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	15						AGATTCCCCAGAGACTGAATC	0.488																																																	0													117.0	105.0	109.0					11																	46690365		2201	4299	6500	SO:0001587	stop_gained	0			AB014552	CCDS7921.1, CCDS44582.1, CCDS55760.1, CCDS55761.1	11p11.2	2014-02-12	2012-06-06	2010-06-29	ENSG00000175224	ENSG00000175224			29091	protein-coding gene	gene with protein product		615088	"""KIAA0652"", ""ATG13 autophagy related 13 homolog (S. cerevisiae)"""	KIAA0652		15169610, 18339812, 17204848	Standard	NM_001205120		Approved		uc001nda.3	O75143	OTTHUMG00000166538	ENST00000434074.1:c.1252G>T	11.37:g.46690365G>T	ENSP00000400642:p.Glu418*		B4DFI4|D3DQQ1|D3DQQ2|E9PQZ8|Q53EN6|Q9BRL3|Q9H8B0	Nonsense_Mutation	SNP	pfam_Autophagy-rel_p13	p.E418*	ENST00000434074.1	37	c.1252	CCDS44582.1	11	.	.	.	.	.	.	.	.	.	.	G	4.139	0.024115	0.08006	.	.	ENSG00000175224	ENST00000395549;ENST00000434074;ENST00000312040;ENST00000451945;ENST00000529655;ENST00000530500;ENST00000526508;ENST00000524625;ENST00000359513;ENST00000528494;ENST00000525009	.	.	.	5.95	3.11	0.35812	.	0.792060	0.12885	N	0.431079	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	-10.8796	11.9465	0.52930	0.1211:0.1059:0.7731:0.0	.	.	.	.	X	381;418;418;381;381;302;418;381;418;451;150	.	ENSP00000310321:E418X	E	+	1	0	ATG13	46646941	0.610000	0.26983	0.128000	0.21923	0.028000	0.11728	2.504000	0.45416	0.141000	0.18875	-1.872000	0.00552	GAG	ATG13	-	NULL	ENSG00000175224		0.488	ATG13-202	KNOWN	basic|CCDS	protein_coding	ATG13	HGNC	protein_coding	OTTHUMT00000390300.2		0.00	43	0	G	NM_014741		46690365	+1			no_errors	ENST00000312040	ensembl	human	known	74_37	nonsense	5.71	66	4	SNP	0.025	T
ATP10A	57194	genome.wustl.edu	37	15	25953235	25953235	+	Missense_Mutation	SNP	T	T	A			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr15:25953235T>A	ENST00000356865.6	-	12	2574	c.2463A>T	c.(2461-2463)gaA>gaT	p.E821D		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	821					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		AGGCATACTCTTCTTTACTCA	0.587																																																	0													78.0	74.0	75.0					15																	25953235		2203	4300	6503	SO:0001583	missense	0			AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.2463A>T	15.37:g.25953235T>A	ENSP00000349325:p.Glu821Asp		Q4G0S9|Q969I4	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.E821D	ENST00000356865.6	37	c.2463	CCDS32178.1	15	.	.	.	.	.	.	.	.	.	.	t	14.70	2.614929	0.46631	.	.	ENSG00000206190	ENST00000356865	T	0.68181	-0.31	4.68	-6.45	0.01914	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.047096	0.85682	D	0.000000	T	0.56247	0.1972	L	0.46819	1.47	0.34519	D	0.707916	B	0.27910	0.193	B	0.32533	0.147	T	0.38001	-0.9681	10	0.25106	T	0.35	-25.3807	18.1477	0.89663	0.0:0.6407:0.0:0.3592	.	821	O60312	AT10A_HUMAN	D	821	ENSP00000349325:E821D	ENSP00000349325:E821D	E	-	3	2	ATP10A	23504328	0.004000	0.15560	0.280000	0.24747	0.748000	0.42578	-1.450000	0.02390	-1.406000	0.02045	-0.981000	0.02577	GAA	ATP10A	-	superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp	ENSG00000206190		0.587	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP10A	HGNC	protein_coding	OTTHUMT00000414830.1	-	0.00	23	0	T	NM_024490		25953235	-1	tier1	-	no_errors	ENST00000356865	ensembl	human	known	74_37	missense	58.33	10	14	SNP	0.300	A
ATP11C	286410	genome.wustl.edu	37	X	138865369	138865369	+	Missense_Mutation	SNP	T	T	C			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chrX:138865369T>C	ENST00000327569.3	-	17	1831	c.1733A>G	c.(1732-1734)aAt>aGt	p.N578S	ATP11C_ENST00000361648.2_Missense_Mutation_p.N578S|ATP11C_ENST00000359686.2_Missense_Mutation_p.N578S|ATP11C_ENST00000370557.1_Missense_Mutation_p.N575S|ATP11C_ENST00000370543.1_Missense_Mutation_p.N578S|ATP11C_ENST00000460773.1_5'UTR	NM_173694.4	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	578					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|positive regulation of B cell differentiation (GO:0045579)|pre-B cell differentiation (GO:0002329)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					AATTTCATGATTTTGCACTCT	0.378																																																	0													206.0	195.0	199.0					X																	138865369		2203	4300	6503	SO:0001583	missense	0			AJ580094	CCDS14668.1, CCDS35410.1	Xq27.1	2011-06-09	2007-09-19		ENSG00000101974	ENSG00000101974		"""ATPases / P-type"""	13554	protein-coding gene	gene with protein product		300516	"""ATPase, Class VI, type 11C"""			11015572	Standard	NM_173694		Approved	ATPIG, ATPIQ	uc004faz.3	Q8NB49	OTTHUMG00000022538	ENST00000327569.3:c.1733A>G	X.37:g.138865369T>C	ENSP00000332756:p.Asn578Ser		Q5JT69|Q5JT70|Q5JT71|Q5JT72|Q5JT73|Q6ZND5|Q6ZU50|Q6ZUP7|Q70IJ9|Q70IK0|Q8WX24	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.N578S	ENST00000327569.3	37	c.1733	CCDS14668.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	3.861|3.861	-0.029838|-0.029838	0.07589|0.07589	.|.	.|.	ENSG00000101974|ENSG00000101974	ENST00000422228|ENST00000370557;ENST00000361648;ENST00000327569;ENST00000370543;ENST00000359686	.|T;T;T;T;T	.|0.67345	.|-0.26;-0.26;-0.26;-0.26;-0.26	5.03|5.03	-0.462|-0.462	0.12168|0.12168	.|ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	.|0.670186	.|0.15462	.|N	.|0.261070	T|T	0.27629|0.27629	0.0679|0.0679	N|N	0.02665|0.02665	-0.54|-0.54	0.09310|0.09310	N|N	1|1	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.04013	.|0.0;0.001	T|T	0.17930|0.17930	-1.0353|-1.0353	5|10	.|0.07644	.|T	.|0.81	.|.	0.9858|0.9858	0.01446|0.01446	0.1544:0.2805:0.1547:0.4104|0.1544:0.2805:0.1547:0.4104	.|.	.|578;578	.|Q8NB49-3;Q8NB49	.|.;AT11C_HUMAN	V|S	130|575;578;578;578;578	.|ENSP00000359588:N575S;ENSP00000355165:N578S;ENSP00000332756:N578S;ENSP00000359574:N578S;ENSP00000352715:N578S	.|ENSP00000332756:N578S	I|N	-|-	1|2	0|0	ATP11C|ATP11C	138693035|138693035	0.765000|0.765000	0.28485|0.28485	0.951000|0.951000	0.38953|0.38953	0.975000|0.975000	0.68041|0.68041	0.105000|0.105000	0.15333|0.15333	0.125000|0.125000	0.18397|0.18397	0.481000|0.481000	0.45027|0.45027	ATC|AAT	ATP11C	-	pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp	ENSG00000101974		0.378	ATP11C-008	KNOWN	basic|CCDS	protein_coding	ATP11C	HGNC	protein_coding	OTTHUMT00000354945.1	-	0.00	29	0	T	NM_173694		138865369	-1	tier1	-	no_errors	ENST00000327569	ensembl	human	known	74_37	missense	84.62	6	33	SNP	0.233	C
ATP2B1	490	genome.wustl.edu	37	12	90015477	90015477	+	Missense_Mutation	SNP	G	G	A			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr12:90015477G>A	ENST00000428670.3	-	10	1892	c.1436C>T	c.(1435-1437)aCt>aTt	p.T479I	ATP2B1_ENST00000359142.3_Missense_Mutation_p.T479I|ATP2B1_ENST00000261173.2_Missense_Mutation_p.T479I|ATP2B1_ENST00000348959.3_Missense_Mutation_p.T479I|ATP2B1_ENST00000393164.2_Missense_Mutation_p.T222I			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	479					blood coagulation (GO:0007596)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						CATTGTCAAAGTTCCTGTTTT	0.343																																																	0													118.0	116.0	117.0					12																	90015477		2203	4297	6500	SO:0001583	missense	0			J04027	CCDS9035.1, CCDS41817.1	12q21.33	2010-04-20			ENSG00000070961	ENSG00000070961	3.6.3.8	"""ATPases / P-type"""	814	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 1"""	108731				1674727	Standard	NM_001682		Approved	PMCA1	uc001tbh.3	P20020		ENST00000428670.3:c.1436C>T	12.37:g.90015477G>A	ENSP00000392043:p.Thr479Ile		Q12992|Q12993|Q13819|Q13820|Q13821|Q16504|Q93082	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase	p.T479I	ENST00000428670.3	37	c.1436	CCDS9035.1	12	.	.	.	.	.	.	.	.	.	.	G	28.7	4.943445	0.92593	.	.	ENSG00000070961	ENST00000261173;ENST00000348959;ENST00000359142;ENST00000428670;ENST00000393164	D;D;D;D;D	0.99784	-6.74;-6.74;-6.74;-6.74;-6.74	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	D	0.99896	0.9950	H	0.98559	4.265	0.80722	D	1	D;D;D	0.89917	1.0;0.997;0.998	D;D;D	0.83275	0.996;0.961;0.976	D	0.96403	0.9298	9	.	.	.	-24.494	19.9187	0.97077	0.0:0.0:1.0:0.0	.	479;479;479	P20020-3;P20020-2;P20020-6	.;.;.	I	479;479;479;479;222	ENSP00000261173:T479I;ENSP00000343599:T479I;ENSP00000352054:T479I;ENSP00000392043:T479I;ENSP00000376869:T222I	.	T	-	2	0	ATP2B1	88539608	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.869000	0.99810	2.710000	0.92621	0.563000	0.77884	ACT	ATP2B1	-	pfam_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase	ENSG00000070961		0.343	ATP2B1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	ATP2B1	HGNC	protein_coding	OTTHUMT00000406653.1	-	0.00	17	0	G	NM_001682		90015477	-1	tier1	-	no_errors	ENST00000261173	ensembl	human	known	74_37	missense	65.38	8	17	SNP	1.000	A
ATP8B5P	158381	genome.wustl.edu	37	9	35450410	35450411	+	RNA	INS	-	-	T	rs547771520	byFrequency	TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr9:35450410_35450411insT	ENST00000430846.1	+	0	3260_3261									ATPase, class I, type 8B, member 5, pseudogene																		TTGACTTGAGGTTTTTTTTTCC	0.342													?|TTTTTTTTT|TTTTTTTTTT|unsure	30	0.00599042	0.0015	0.0014	5008	,	,		17840	0.001		0.001	False		,,,				2504	0.0256																0																																												0					9p13.3	2010-09-22			ENSG00000179766	ENSG00000179766		"""ATPases / P-type"""	27245	pseudogene	pseudogene	"""flippase expressed in testis splicing form A pseudogene"""					20210903, 19657017	Standard	NR_003582		Approved	FetA	uc010mkn.2		OTTHUMG00000019862		9.37:g.35450419_35450419dupT				RNA	INS	-	NULL	ENST00000430846.1	37	NULL		9																																																																																			ATP8B5P	-	-	ENSG00000179766		0.342	ATP8B5P-002	KNOWN	basic	processed_transcript	ATP8B5P	HGNC	pseudogene	OTTHUMT00000052312.1		0.00	58	0	0	NR_003581.1		35450411	+1			no_errors	ENST00000430846	ensembl	human	known	74_37	rna	8.04	103	9	INS	0.876:0.812	T
ATRX	546	genome.wustl.edu	37	X	76763679	76763680	+	3'UTR	INS	-	-	A			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chrX:76763679_76763680insA	ENST00000373344.5	-	0	7842_7843				ATRX_ENST00000395603.3_3'UTR|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked						ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						ATGCCCTATTTAAAAAAAAAAA	0.312			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																																	Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	0																																										SO:0001624	3_prime_UTR_variant	0			U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.*150->T	X.37:g.76763690_76763690dupA			D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	RNA	INS	-	NULL	ENST00000373344.5	37	NULL	CCDS14434.1	X																																																																																			ATRX	-	-	ENSG00000085224		0.312	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATRX	HGNC	protein_coding	OTTHUMT00000058860.2		0.00	13	0	-	NM_000489		76763680	-1	tier1		no_errors	ENST00000480283	ensembl	human	known	74_37	rna	16.67	35	7	INS	0.018:0.003	A
BMP4	652	genome.wustl.edu	37	14	54423342	54423342	+	5'UTR	SNP	G	G	A			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr14:54423342G>A	ENST00000245451.4	-	0	187				BMP4_ENST00000417573.1_5'Flank|BMP4_ENST00000558489.1_5'UTR|BMP4_ENST00000559087.1_Intron	NM_001202.3	NP_001193.2	P12644	BMP4_HUMAN	bone morphogenetic protein 4						activation of MAPKK activity (GO:0000186)|anterior/posterior axis specification (GO:0009948)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|BMP signaling pathway (GO:0030509)|BMP signaling pathway involved in heart induction (GO:0003130)|BMP signaling pathway involved in nephric duct formation (GO:0071893)|BMP signaling pathway involved in renal system segmentation (GO:0061151)|BMP signaling pathway involved in ureter morphogenesis (GO:0061149)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in ureteric bud morphogenesis (GO:0001658)|branching morphogenesis of an epithelial tube (GO:0048754)|bronchus development (GO:0060433)|bud dilation involved in lung branching (GO:0060503)|bud elongation involved in lung branching (GO:0060449)|cardiac septum development (GO:0003279)|cellular response to growth factor stimulus (GO:0071363)|chondrocyte differentiation (GO:0002062)|cloacal septation (GO:0060197)|common-partner SMAD protein phosphorylation (GO:0007182)|cranial suture morphogenesis (GO:0060363)|deltoid tuberosity development (GO:0035993)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digit morphogenesis (GO:0042733)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal joint morphogenesis (GO:0060272)|endocardial cushion development (GO:0003197)|endochondral ossification (GO:0001958)|epithelial cell proliferation involved in lung morphogenesis (GO:0060502)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal cell signaling (GO:0060684)|erythrocyte differentiation (GO:0030218)|extracellular matrix organization (GO:0030198)|germ cell development (GO:0007281)|glomerular capillary formation (GO:0072104)|glomerular visceral epithelial cell development (GO:0072015)|hematopoietic progenitor cell differentiation (GO:0002244)|inner ear receptor cell differentiation (GO:0060113)|intermediate mesodermal cell differentiation (GO:0048392)|kidney development (GO:0001822)|lens induction in camera-type eye (GO:0060235)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|lymphoid progenitor cell differentiation (GO:0002320)|macrophage differentiation (GO:0030225)|mammary gland formation (GO:0060592)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|mesenchymal cell proliferation involved in ureter development (GO:0072198)|mesenchymal cell proliferation involved in ureteric bud development (GO:0072138)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesodermal cell fate determination (GO:0007500)|mesonephros development (GO:0001823)|metanephric collecting duct development (GO:0072205)|monocyte differentiation (GO:0030224)|negative regulation of apoptotic process (GO:0043066)|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway (GO:0072097)|negative regulation of branching involved in ureteric bud morphogenesis (GO:0090191)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in heart morphogenesis (GO:2000137)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of glomerular mesangial cell proliferation (GO:0072125)|negative regulation of glomerulus development (GO:0090194)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mesenchymal cell proliferation involved in ureter development (GO:0072200)|negative regulation of metanephric comma-shaped body morphogenesis (GO:2000007)|negative regulation of metanephric S-shaped body morphogenesis (GO:2000005)|negative regulation of mitosis (GO:0045839)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of phosphorylation (GO:0042326)|negative regulation of prostatic bud formation (GO:0060686)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of T cell differentiation in thymus (GO:0033085)|negative regulation of thymocyte apoptotic process (GO:0070244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|neuron fate commitment (GO:0048663)|odontogenesis (GO:0042476)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of bone mineralization (GO:0030501)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of cardiac muscle fiber development (GO:0055020)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell death (GO:0010942)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epidermal cell differentiation (GO:0045606)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of kidney development (GO:0090184)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of ossification (GO:0045778)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein localization to nucleus (GO:0034504)|pulmonary artery endothelial tube morphogenesis (GO:0061155)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|regulation of smooth muscle cell differentiation (GO:0051150)|renal system development (GO:0072001)|renal system process (GO:0003014)|secondary heart field specification (GO:0003139)|SMAD protein signal transduction (GO:0060395)|smooth muscle tissue development (GO:0048745)|smoothened signaling pathway (GO:0007224)|specification of organ position (GO:0010159)|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway (GO:0072101)|steroid hormone mediated signaling pathway (GO:0043401)|telencephalon development (GO:0021537)|telencephalon regionalization (GO:0021978)|tendon cell differentiation (GO:0035990)|trachea development (GO:0060438)|trachea formation (GO:0060440)|type B pancreatic cell development (GO:0003323)|ureter epithelial cell differentiation (GO:0072192)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	BMP receptor binding (GO:0070700)|chemoattractant activity (GO:0042056)|cytokine activity (GO:0005125)|heparin binding (GO:0008201)			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(3)|urinary_tract(1)	19						GAACCTGGGCGAGGGCCGGGG	0.642																																																	0																																										SO:0001623	5_prime_UTR_variant	0			AF035427	CCDS9715.1	14q22-q23	2014-01-30			ENSG00000125378	ENSG00000125378		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1071	protein-coding gene	gene with protein product		112262		BMP2B		7558046, 7579580	Standard	NM_001202		Approved		uc010aoh.3	P12644	OTTHUMG00000140303	ENST00000245451.4:c.-207C>T	14.37:g.54423342G>A			Q9UM80	RNA	SNP	-	NULL	ENST00000245451.4	37	NULL	CCDS9715.1	14																																																																																			BMP4	-	-	ENSG00000125378		0.642	BMP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMP4	HGNC	protein_coding	OTTHUMT00000276894.2	-	0.00	89	0	G	NM_001202		54423342	-1	tier1	-	no_errors	ENST00000558489	ensembl	human	putative	74_37	rna	6.06	62	4	SNP	0.997	A
BNC2	54796	genome.wustl.edu	37	9	16436858	16436858	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr9:16436858G>T	ENST00000380672.4	-	6	1391	c.1334C>A	c.(1333-1335)gCa>gAa	p.A445E	BNC2_ENST00000380667.2_Missense_Mutation_p.A378E|BNC2_ENST00000545497.1_Missense_Mutation_p.A350E|BNC2_ENST00000380666.2_Missense_Mutation_p.A445E	NM_017637.5	NP_060107.3			basonuclin 2											NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		CTTCCCACATGCATTACAGAA	0.423																																																	0													104.0	95.0	98.0					9																	16436858		2203	4300	6503	SO:0001583	missense	0			AK092247	CCDS6482.2	9p22.2	2013-05-20			ENSG00000173068	ENSG00000173068		"""Zinc fingers, C2H2-type"""	30988	protein-coding gene	gene with protein product		608669				14702039	Standard	XM_006716784		Approved	BSN2, FLJ20043	uc003zml.3	Q6ZN30	OTTHUMG00000019593	ENST00000380672.4:c.1334C>A	9.37:g.16436858G>T	ENSP00000370047:p.Ala445Glu			Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A445E	ENST00000380672.4	37	c.1334	CCDS6482.2	9	.	.	.	.	.	.	.	.	.	.	G	17.77	3.471634	0.63737	.	.	ENSG00000173068	ENST00000380672;ENST00000418777;ENST00000380667;ENST00000545497;ENST00000544198;ENST00000380666;ENST00000540340	T;T;T;T;T	0.24723	1.84;1.84;1.84;1.84;1.84	6.17	6.17	0.99709	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.097212	0.64402	D	0.000001	T	0.29620	0.0739	N	0.02368	-0.58	0.80722	D	1	D;D;D;D;D;D;D;P;D	0.76494	0.999;0.975;0.997;0.999;0.992;0.983;0.993;0.837;0.96	D;P;D;D;P;P;P;P;P	0.72625	0.978;0.826;0.913;0.971;0.774;0.772;0.851;0.697;0.765	T	0.52132	-0.8616	10	0.45353	T	0.12	-13.3588	20.8794	0.99867	0.0:0.0:1.0:0.0	.	350;378;445;271;445;402;445;350;210	F5H586;B1APH0;Q6ZN30-2;B4E3J2;F5H8G9;Q5H9S4;Q6ZN30;B4DR27;D3DRJ1	.;.;.;.;.;.;BNC2_HUMAN;.;.	E	445;402;378;350;271;445;445	ENSP00000370047:A445E;ENSP00000408370:A402E;ENSP00000370042:A378E;ENSP00000444640:A350E;ENSP00000370041:A445E	ENSP00000370041:A445E	A	-	2	0	BNC2	16426858	1.000000	0.71417	0.979000	0.43373	0.849000	0.48306	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	GCA	BNC2	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000173068		0.423	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BNC2	HGNC	protein_coding	OTTHUMT00000216901.5		0.00	23	0	G	NM_017637		16436858	-1			no_errors	ENST00000380672	ensembl	human	known	74_37	missense	5.56	51	3	SNP	1.000	T
BOC	91653	genome.wustl.edu	37	3	112996962	112996962	+	Silent	SNP	C	C	T			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr3:112996962C>T	ENST00000495514.1	+	10	2264	c.1560C>T	c.(1558-1560)gaC>gaT	p.D520D	BOC_ENST00000273395.4_Silent_p.D521D|BOC_ENST00000497495.1_3'UTR|BOC_ENST00000355385.3_Silent_p.D520D			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	520	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|smoothened signaling pathway (GO:0007224)	axonal growth cone (GO:0044295)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			ATTCCTCTGACGATTGGACCA	0.542																																																	0													197.0	198.0	198.0					3																	112996962		2203	4300	6503	SO:0001819	synonymous_variant	0			AY027658	CCDS2971.1	3q13.2	2013-02-11	2012-12-07		ENSG00000144857	ENSG00000144857		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	17173	protein-coding gene	gene with protein product	"""brother of CDO"", ""brother of CDON"", ""cell adhesion associated, oncogene regulated 2"""	608708	"""Boc homolog (mouse)"""			11782431	Standard	NM_033254		Approved	CDON2	uc003dzy.3	Q9BWV1	OTTHUMG00000159305	ENST00000495514.1:c.1560C>T	3.37:g.112996962C>T			A6NJ30|B2RMS8|D3DN70|Q6UXJ5|Q8N2P7|Q8NF26	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.D521	ENST00000495514.1	37	c.1563	CCDS2971.1	3																																																																																			BOC	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000144857		0.542	BOC-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	BOC	HGNC	protein_coding	OTTHUMT00000354485.3	-	0.00	45	0	C	NM_033254		112996962	+1	tier1	-	no_errors	ENST00000273395	ensembl	human	known	74_37	silent	34.15	27	14	SNP	0.000	T
C16orf82	162083	genome.wustl.edu	37	16	27080038	27080038	+	lincRNA	DEL	T	T	-	rs545877844|rs369091781		TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr16:27080038delT	ENST00000505035.1	+	0	2011				RP11-673P17.2_ENST00000565783.1_RNA			Q7Z2V1	TNT_HUMAN	chromosome 16 open reading frame 82																		CCAAGCGTCCTTTTTTTTTTT	0.478																																																	0																																												0			BC031257		16p12.1	2013-01-24			ENSG00000234186	ENSG00000234186			30755	other	unknown						12477932	Standard	NM_001145545		Approved	TNT	uc010vcm.2	Q7Z2V1	OTTHUMG00000161986		16.37:g.27080038delT			B9EGC2|Q8NEF0	RNA	DEL	-	NULL	ENST00000505035.1	37	NULL		16																																																																																			C16orf82	-	-	ENSG00000234186		0.478	C16orf82-001	KNOWN	basic	lincRNA	C16orf82	HGNC	lincRNA	OTTHUMT00000366634.1		0.00	27	0	T	NM_001145545		27080038	+1	tier1		no_errors	ENST00000418886	ensembl	human	known	74_37	rna	14.81	23	4	DEL	0.000	-
ERICH3	127254	genome.wustl.edu	37	1	75038176	75038176	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr1:75038176G>T	ENST00000326665.5	-	14	3436	c.3218C>A	c.(3217-3219)aCt>aAt	p.T1073N	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		1073	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CTCAGAGTCAGTTTTCCTCAG	0.413																																																	0													168.0	176.0	174.0					1																	75038176		2203	4300	6503	SO:0001583	missense	0																														ENST00000326665.5:c.3218C>A	1.37:g.75038176G>T	ENSP00000322609:p.Thr1073Asn		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	NULL	p.T1073N	ENST00000326665.5	37	c.3218	CCDS30755.1	1	.	.	.	.	.	.	.	.	.	.	G	14.48	2.549288	0.45383	.	.	ENSG00000178965	ENST00000326665	T	0.18657	2.2	5.0	2.96	0.34315	.	.	.	.	.	T	0.07007	0.0178	L	0.40543	1.245	0.09310	N	0.999999	P	0.37955	0.612	B	0.37692	0.256	T	0.23297	-1.0192	9	0.27785	T	0.31	-0.7458	9.1407	0.36901	0.0:0.2976:0.5494:0.153	.	1073	Q5RHP9	CA173_HUMAN	N	1073	ENSP00000322609:T1073N	ENSP00000322609:T1073N	T	-	2	0	C1orf173	74810764	0.000000	0.05858	0.023000	0.16930	0.001000	0.01503	0.237000	0.17985	1.088000	0.41272	-0.305000	0.09177	ACT	C1orf173	-	NULL	ENSG00000178965		0.413	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf173	HGNC	protein_coding	OTTHUMT00000026516.1	-	0.00	33	0	G			75038176	-1	tier1	-	no_errors	ENST00000326665	ensembl	human	known	74_37	missense	6.06	62	4	SNP	0.038	T
CA4	762	genome.wustl.edu	37	17	58234883	58234883	+	Missense_Mutation	SNP	C	C	T			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr17:58234883C>T	ENST00000300900.4	+	4	463	c.364C>T	c.(364-366)Cca>Tca	p.P122S		NM_000717.3	NP_000708.1	P22748	CAH4_HUMAN	carbonic anhydrase IV	122					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|organ development (GO:0048513)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|secretory granule membrane (GO:0030667)|trans-Golgi network (GO:0005802)|transport vesicle membrane (GO:0030658)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(2)|lung(5)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.83e-12)|all cancers(12;6.83e-11)		Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diclofenamide(DB01144)|Dorzolamide(DB00869)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Topiramate(DB00273)|Trichlormethiazide(DB01021)|Zonisamide(DB00909)	GTCCGACTTGCCATATAAGGG	0.612																																																	0													149.0	135.0	140.0					17																	58234883		2203	4300	6503	SO:0001583	missense	0			L10955	CCDS11624.1	17q23.1	2012-08-21			ENSG00000167434	ENSG00000167434	4.2.1.1	"""Carbonic anhydrases"""	1375	protein-coding gene	gene with protein product		114760	"""retinitis pigmentosa 17 (autosomal dominant)"""	RP17		8325641	Standard	NM_000717		Approved	CAIV, Car4	uc002iym.4	P22748		ENST00000300900.4:c.364C>T	17.37:g.58234883C>T	ENSP00000300900:p.Pro122Ser		B4DQA4|Q6FHI7	Missense_Mutation	SNP	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	p.P122S	ENST00000300900.4	37	c.364	CCDS11624.1	17	.	.	.	.	.	.	.	.	.	.	C	4.195	0.034846	0.08101	.	.	ENSG00000167434	ENST00000300900	T	0.70516	-0.49	4.61	-9.21	0.00678	Carbonic anhydrase, alpha-class, catalytic domain (4);	1.885140	0.02503	N	0.090734	T	0.27241	0.0668	N	0.00554	-1.385	0.09310	N	1	B	0.10296	0.003	B	0.01281	0.0	T	0.35773	-0.9775	10	0.09084	T	0.74	.	2.7269	0.05216	0.5152:0.1127:0.0871:0.2851	.	122	P22748	CAH4_HUMAN	S	122	ENSP00000300900:P122S	ENSP00000300900:P122S	P	+	1	0	CA4	55589665	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.898000	0.01602	-2.537000	0.00488	-0.521000	0.04368	CCA	CA4	-	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	ENSG00000167434		0.612	CA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CA4	HGNC	protein_coding	OTTHUMT00000449189.1	-	0.00	36	0	C	NM_000717		58234883	+1	tier1	-	no_errors	ENST00000300900	ensembl	human	known	74_37	missense	7.41	50	4	SNP	0.000	T
CADPS	8618	genome.wustl.edu	37	3	62388814	62388814	+	Missense_Mutation	SNP	T	T	C			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr3:62388814T>C	ENST00000383710.4	-	29	4173	c.3824A>G	c.(3823-3825)gAc>gGc	p.D1275G	CADPS_ENST00000357948.3_Missense_Mutation_p.D1196G|CADPS_ENST00000283269.9_Missense_Mutation_p.D1236G	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	1275	Mediates targeting and association with DCVs. {ECO:0000250}.				catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		GTCCATCCGGTCCGTCAACCA	0.383																																																	0													123.0	112.0	116.0					3																	62388814		2203	4300	6503	SO:0001583	missense	0			U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"""Pleckstrin homology (PH) domain containing"""	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.3824A>G	3.37:g.62388814T>C	ENSP00000373215:p.Asp1275Gly		A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Missense_Mutation	SNP	pfam_Ca-dep_secretion_activator,superfamily_C2_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.D1275G	ENST00000383710.4	37	c.3824	CCDS46858.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	27.5|27.5	4.836834|4.836834	0.91117|0.91117	.|.	.|.	ENSG00000163618|ENSG00000163618	ENST00000383709;ENST00000383710;ENST00000357948;ENST00000283269|ENST00000473635	T;T;T|.	0.31510|.	1.49;1.49;1.49|.	5.33|5.33	5.33|5.33	0.75918|0.75918	.|.	0.058985|.	0.64402|.	D|.	0.000002|.	T|T	0.73666|0.73666	0.3616|0.3616	M|M	0.71581|0.71581	2.175|2.175	0.80722|0.80722	D|D	1|1	P;P;P;P|.	0.52170|.	0.951;0.72;0.799;0.917|.	P;B;B;P|.	0.57057|.	0.812;0.423;0.202;0.622|.	T|T	0.74044|0.74044	-0.3791|-0.3791	10|5	0.87932|.	D|.	0|.	.|.	15.6|15.6	0.76616|0.76616	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1196;1236;1275;1280|.	Q9ULU8-2;Q9ULU8-3;Q9ULU8;Q9ULU8-4|.	.;.;CAPS1_HUMAN;.|.	G|A	1281;1275;1196;1236|267	ENSP00000373215:D1275G;ENSP00000350632:D1196G;ENSP00000283269:D1236G|.	ENSP00000283269:D1236G|.	D|T	-|-	2|1	0|0	CADPS|CADPS	62363854|62363854	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.592000|7.592000	0.82676|0.82676	2.152000|2.152000	0.67230|0.67230	0.460000|0.460000	0.39030|0.39030	GAC|ACC	CADPS	-	NULL	ENSG00000163618		0.383	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	CADPS	HGNC	protein_coding	OTTHUMT00000351951.5	-	0.00	44	0	T	NM_003716, NM_183393, NM_183394		62388814	-1	tier1	-	no_errors	ENST00000383710	ensembl	human	known	74_37	missense	6.52	86	6	SNP	1.000	C
CADPS	8618	genome.wustl.edu	37	3	62570860	62570860	+	Splice_Site	SNP	C	C	G			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr3:62570860C>G	ENST00000383710.4	-	8	1926	c.1577G>C	c.(1576-1578)gGg>gCg	p.G526A	CADPS_ENST00000357948.3_Splice_Site_p.G526A|CADPS_ENST00000283269.9_Splice_Site_p.G526A	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	526	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		AAACACTTACCCAGAATGCTT	0.398																																																	0													184.0	169.0	174.0					3																	62570860		2203	4300	6503	SO:0001630	splice_region_variant	0			U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"""Pleckstrin homology (PH) domain containing"""	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.1577+1G>C	3.37:g.62570860C>G			A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Missense_Mutation	SNP	pfam_Ca-dep_secretion_activator,superfamily_C2_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.G526A	ENST00000383710.4	37	c.1577	CCDS46858.1	3	.	.	.	.	.	.	.	.	.	.	C	32	5.177641	0.94846	.	.	ENSG00000163618	ENST00000383709;ENST00000383710;ENST00000357948;ENST00000283269;ENST00000542833	T;T;T;D	0.88975	0.55;0.54;0.54;-2.45	6.04	6.04	0.98038	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	D	0.94994	0.8380	M	0.81942	2.565	0.80722	D	1	D;D;D;D	0.89917	1.0;0.97;0.998;1.0	D;D;D;D	0.97110	1.0;0.975;0.996;1.0	D	0.93917	0.7202	9	.	.	.	.	20.5948	0.99439	0.0:1.0:0.0:0.0	.	526;526;526;526	Q9ULU8-2;Q9ULU8-3;Q9ULU8;Q9ULU8-4	.;.;CAPS1_HUMAN;.	A	526;526;526;526;21	ENSP00000373215:G526A;ENSP00000350632:G526A;ENSP00000283269:G526A;ENSP00000439528:G21A	.	G	-	2	0	CADPS	62545900	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.818000	0.86416	2.873000	0.98535	0.563000	0.77884	GGG	CADPS	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000163618		0.398	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	CADPS	HGNC	protein_coding	OTTHUMT00000351951.5	-	0.00	43	0	C	NM_003716, NM_183393, NM_183394	Missense_Mutation	62570860	-1	tier1	-	no_errors	ENST00000383710	ensembl	human	known	74_37	missense	31.25	55	25	SNP	1.000	G
CAPRIN2	65981	genome.wustl.edu	37	12	30876222	30876222	+	Missense_Mutation	SNP	G	G	T	rs79465544		TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr12:30876222G>T	ENST00000395805.2	-	11	2561	c.2014C>A	c.(2014-2016)Caa>Aaa	p.Q672K	CAPRIN2_ENST00000417045.1_Missense_Mutation_p.Q672K|CAPRIN2_ENST00000308433.5_Missense_Mutation_p.Q339K|CAPRIN2_ENST00000251071.5_Missense_Mutation_p.Q672K|CAPRIN2_ENST00000298892.5_Missense_Mutation_p.Q672K	NM_001206856.1	NP_001193785.1			caprin family member 2											breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					AAATCACTTTGACTGGACAGA	0.358																																																	0													89.0	87.0	88.0					12																	30876222		2202	4300	6502	SO:0001583	missense	0			AY074491	CCDS8720.1, CCDS41766.1, CCDS41766.2, CCDS55816.1	12p11	2010-08-03	2007-03-27	2007-03-27	ENSG00000110888	ENSG00000110888			21259	protein-coding gene	gene with protein product		610375	"""C1q domain containing 1"""	C1QDC1		11347906, 14764709	Standard	NM_001002259		Approved	EEG1, FLJ22569, FLJ11391, caprin-2, RNG140	uc001rji.1	Q6IMN6	OTTHUMG00000169185	ENST00000395805.2:c.2014C>A	12.37:g.30876222G>T	ENSP00000379150:p.Gln672Lys			Missense_Mutation	SNP	pfam_Caprin-1_C,pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q	p.Q672K	ENST00000395805.2	37	c.2014	CCDS55816.1	12	.	.	.	.	.	.	.	.	.	.	G	18.40	3.614758	0.66672	.	.	ENSG00000110888	ENST00000433722;ENST00000298892;ENST00000395805;ENST00000251071;ENST00000308433;ENST00000417045;ENST00000438006;ENST00000537108	T;T;T;T;T;T;T	0.72167	2.04;-0.63;1.79;2.04;2.04;2.04;2.04	4.47	3.57	0.40892	.	0.385336	0.29369	N	0.012351	T	0.75428	0.3848	L	0.44542	1.39	0.29647	N	0.844285	D;D;D;D;D;D	0.69078	0.996;0.997;0.993;0.984;0.991;0.984	P;D;P;P;P;P	0.64237	0.875;0.923;0.712;0.828;0.801;0.76	T	0.72010	-0.4419	10	0.46703	T	0.11	-0.7249	12.4761	0.55814	0.0:0.0:0.8323:0.1677	.	398;672;672;672;672;672	E9PAU5;Q149P6;Q6IMN6-3;Q6IMN6;Q6IMN6-2;E4NKG2	.;.;.;CAPR2_HUMAN;.;.	K	418;672;672;672;339;672;398;591	ENSP00000415407:Q418K;ENSP00000298892:Q672K;ENSP00000379150:Q672K;ENSP00000251071:Q672K;ENSP00000309785:Q339K;ENSP00000391479:Q672K;ENSP00000438010:Q591K	ENSP00000251071:Q672K	Q	-	1	0	CAPRIN2	30767489	1.000000	0.71417	0.991000	0.47740	0.997000	0.91878	4.214000	0.58527	1.218000	0.43458	0.650000	0.86243	CAA	CAPRIN2	-	pfam_Caprin-1_C	ENSG00000110888		0.358	CAPRIN2-004	PUTATIVE	basic|exp_conf|CCDS	protein_coding	CAPRIN2	HGNC	protein_coding	OTTHUMT00000403322.2	-	0.00	49	0	G	NM_023925		30876222	-1	tier1	rs79465544	no_errors	ENST00000251071	ensembl	human	known	74_37	missense	6.45	58	4	SNP	0.999	T
CCDC144A	9720	genome.wustl.edu	37	17	16593966	16593966	+	Silent	SNP	C	C	A	rs369164566		TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr17:16593966C>A	ENST00000360524.8	+	1	328	c.252C>A	c.(250-252)ctC>ctA	p.L84L	RNU6-405P_ENST00000516637.1_RNA|RP11-219A15.1_ENST00000448331.3_Silent_p.L84L|CCDC144A_ENST00000399273.1_Silent_p.L84L|CCDC144A_ENST00000340621.5_Silent_p.L84L|CCDC144A_ENST00000436374.1_3'UTR|CCDC144A_ENST00000443444.2_Silent_p.L84L|CCDC144A_ENST00000456009.1_Silent_p.L84L	NM_014695.1	NP_055510.1	A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	84																	TTGGCGAGCTCCACAGAGCTG	0.622																																																	0								C		0,4406		0,0,2203	88.0	99.0	95.0		252	0.5	0.0	17		95	1,8595		0,1,4297	no	coding-synonymous	CCDC144A	NM_014695.1		0,1,6500	AA,AC,CC		0.0116,0.0,0.0077		84/1428	16593966	1,13001	2203	4298	6501	SO:0001819	synonymous_variant	0			BC133019	CCDS45621.1	17p11.2	2008-10-23			ENSG00000170160	ENSG00000170160			29072	protein-coding gene	gene with protein product						9628581, 11997339	Standard	NM_014695		Approved	KIAA0565, FLJ43983	uc002gqk.1	A2RUR9	OTTHUMG00000059178	ENST00000360524.8:c.252C>A	17.37:g.16593966C>A			O60311|Q6ZU57	Silent	SNP	pfam_DUF3496	p.L84	ENST00000360524.8	37	c.252	CCDS45621.1	17																																																																																			CCDC144A	-	NULL	ENSG00000170160		0.622	CCDC144A-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC144A	HGNC	protein_coding	OTTHUMT00000444093.1	-	0.00	88	0	C			16593966	+1	tier1	-	no_errors	ENST00000360524	ensembl	human	known	74_37	silent	81.63	9	40	SNP	0.016	A
CD5L	922	genome.wustl.edu	37	1	157804258	157804258	+	Silent	SNP	A	A	C			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr1:157804258A>C	ENST00000368174.4	-	4	753	c.657T>G	c.(655-657)ccT>ccG	p.P219P	CD5L_ENST00000484609.1_5'Flank	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	219	SRCR 2. {ECO:0000255|PROSITE- ProRule:PRU00196}.				apoptotic process (GO:0006915)|cellular defense response (GO:0006968)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	scavenger receptor activity (GO:0005044)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			AAGGCCCAGAAGGGCAATCCT	0.512																																																	0													57.0	49.0	52.0					1																	157804258		2203	4300	6503	SO:0001819	synonymous_variant	0			U82812	CCDS1171.1	1q21-q23	2008-02-05	2006-03-28		ENSG00000073754	ENSG00000073754			1690	protein-coding gene	gene with protein product		602592	"""apoptosis inhibitor 6"", ""CD5 antigen-like (scavenger receptor cysteine rich family)"""	API6		9045627	Standard	NM_005894		Approved	Spalpha	uc001frk.4	O43866	OTTHUMG00000022440	ENST00000368174.4:c.657T>G	1.37:g.157804258A>C			A8K7M5|Q6UX63	Silent	SNP	pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR	p.P219	ENST00000368174.4	37	c.657	CCDS1171.1	1																																																																																			CD5L	-	pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR	ENSG00000073754		0.512	CD5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD5L	HGNC	protein_coding	OTTHUMT00000058346.1	-	0.00	14	0	A	NM_005894		157804258	-1	tier1	-	no_errors	ENST00000368174	ensembl	human	known	74_37	silent	30.77	18	8	SNP	0.000	C
CD1D	912	genome.wustl.edu	37	1	158152065	158152065	+	Missense_Mutation	SNP	T	T	G			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr1:158152065T>G	ENST00000368171.3	+	4	1071	c.572T>G	c.(571-573)cTc>cGc	p.L191R		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	191	Ig-like.				antigen processing and presentation, endogenous lipid antigen via MHC class Ib (GO:0048006)|detection of bacterium (GO:0016045)|heterotypic cell-cell adhesion (GO:0034113)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of T cell proliferation (GO:0042102)|T cell selection (GO:0045058)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	beta-2-microglobulin binding (GO:0030881)|cell adhesion molecule binding (GO:0050839)|exogenous lipid antigen binding (GO:0030884)|histone binding (GO:0042393)|lipid antigen binding (GO:0030882)|receptor activity (GO:0004872)			endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					GTCAGTGGCCTCCTTGAGTCA	0.537																																																	0													141.0	142.0	141.0					1																	158152065		2203	4300	6503	SO:0001583	missense	0			BC027926	CCDS1173.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158473	ENSG00000158473		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1637	protein-coding gene	gene with protein product		188410	"""CD1D antigen, d polypeptide"", ""CD1d antigen"""			2463622	Standard	NM_001766		Approved		uc001frr.3	P15813	OTTHUMG00000022436	ENST00000368171.3:c.572T>G	1.37:g.158152065T>G	ENSP00000357153:p.Leu191Arg		D3DVD5|Q5W0J3|Q9UMM3|Q9Y5M4	Missense_Mutation	SNP	pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom	p.L191R	ENST00000368171.3	37	c.572	CCDS1173.1	1	.	.	.	.	.	.	.	.	.	.	T	12.49	1.954459	0.34471	.	.	ENSG00000158473	ENST00000368171	T	0.08458	3.09	4.65	4.65	0.58169	Immunoglobulin-like (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	0.599272	0.14239	N	0.332216	T	0.19248	0.0462	H	0.94183	3.505	0.09310	N	1	D	0.56521	0.976	P	0.54238	0.746	T	0.21075	-1.0256	10	0.72032	D	0.01	-10.2481	10.6035	0.45381	0.0:0.0:0.0:1.0	.	191	P15813	CD1D_HUMAN	R	191	ENSP00000357153:L191R	ENSP00000357153:L191R	L	+	2	0	CD1D	156418689	0.035000	0.19736	0.004000	0.12327	0.025000	0.11179	3.345000	0.52182	2.066000	0.61787	0.528000	0.53228	CTC	CD1D	-	superfamily_MHC_I/II-like_Ag-recog,pfscan_Ig-like_dom	ENSG00000158473		0.537	CD1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD1D	HGNC	protein_coding	OTTHUMT00000058340.1	-	0.00	62	0	T	NM_001766		158152065	+1	tier1	-	no_errors	ENST00000368171	ensembl	human	known	74_37	missense	42.86	36	27	SNP	0.007	G
CDC27	996	genome.wustl.edu	37	17	45214617	45214617	+	Missense_Mutation	SNP	G	G	T	rs138264973		TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr17:45214617G>T	ENST00000066544.3	-	14	1907	c.1814C>A	c.(1813-1815)aCt>aAt	p.T605N	CDC27_ENST00000531206.1_Missense_Mutation_p.T611N|CDC27_ENST00000446365.2_Missense_Mutation_p.T544N|CDC27_ENST00000527547.1_Missense_Mutation_p.T604N	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	605					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						CCCTAATAGAGTATAGGCATA	0.388																																																	0													56.0	58.0	58.0					17																	45214617		2203	4300	6503	SO:0001583	missense	0			U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.1814C>A	17.37:g.45214617G>T	ENSP00000066544:p.Thr605Asn		G3V1C4|Q16349|Q96F35	Missense_Mutation	SNP	pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.T611N	ENST00000066544.3	37	c.1832	CCDS11509.1	17	.	.	.	.	.	.	.	.	.	.	G	34	5.342757	0.95783	.	.	ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547	T;T;T;T	0.57907	0.37;0.37;0.37;0.37	5.81	5.81	0.92471	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.78201	0.4246	M	0.90425	3.115	0.80722	D	1	D;D;D;D	0.76494	0.999;0.991;0.999;0.998	D;P;D;D	0.74348	0.983;0.824;0.971;0.976	T	0.82190	-0.0580	10	0.87932	D	0	-13.564	17.5633	0.87913	0.0:0.0:1.0:0.0	.	544;604;611;605	B4DL80;G5EA36;G3V1C4;P30260	.;.;.;CDC27_HUMAN	N	605;611;544;604	ENSP00000066544:T605N;ENSP00000434614:T611N;ENSP00000392802:T544N;ENSP00000437339:T604N	ENSP00000066544:T605N	T	-	2	0	CDC27	42569616	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.033000	0.88852	2.761000	0.94854	0.585000	0.79938	ACT	CDC27	-	pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000004897		0.388	CDC27-001	KNOWN	basic|CCDS	protein_coding	CDC27	HGNC	protein_coding	OTTHUMT00000389742.2	-	0.00	37	0	G			45214617	-1	tier1	-	no_errors	ENST00000531206	ensembl	human	known	74_37	missense	7.45	87	7	SNP	1.000	T
CDH8	1006	genome.wustl.edu	37	16	61689518	61689518	+	Missense_Mutation	SNP	T	T	G			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr16:61689518T>G	ENST00000577390.1	-	11	2716	c.1762A>C	c.(1762-1764)Agc>Cgc	p.S588R	CDH8_ENST00000577730.1_Missense_Mutation_p.S588R|CDH8_ENST00000299345.6_Missense_Mutation_p.S588R	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	588	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		GTGCTAGTGCTGCTCAGTGGA	0.453																																																	0													153.0	133.0	139.0					16																	61689518		2203	4300	6503	SO:0001583	missense	0			L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"""Cadherins / Major cadherins"""	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.1762A>C	16.37:g.61689518T>G	ENSP00000462701:p.Ser588Arg		B3KWC1|Q14DC6|Q9ULB2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S588R	ENST00000577390.1	37	c.1762	CCDS10802.1	16	.	.	.	.	.	.	.	.	.	.	T	26.2	4.717379	0.89205	.	.	ENSG00000150394	ENST00000299345	T	0.54866	0.55	5.52	5.52	0.82312	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.78780	0.4337	H	0.95982	3.75	0.80722	D	1	P	0.50272	0.933	P	0.58391	0.838	D	0.85678	0.1299	10	0.87932	D	0	.	14.82	0.70065	0.0:0.0:0.0:1.0	.	588	P55286	CADH8_HUMAN	R	588	ENSP00000299345:S588R	ENSP00000299345:S588R	S	-	1	0	CDH8	60247019	1.000000	0.71417	1.000000	0.80357	0.783000	0.44284	7.649000	0.83500	2.101000	0.63845	0.459000	0.35465	AGC	CDH8	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000150394		0.453	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH8	HGNC	protein_coding	OTTHUMT00000268754.3	-	0.00	39	0	T	NM_001796		61689518	-1	tier1	-	no_errors	ENST00000577390	ensembl	human	known	74_37	missense	21.62	29	8	SNP	1.000	G
CDHR1	92211	genome.wustl.edu	37	10	85971434	85971434	+	Nonsense_Mutation	SNP	G	G	T	rs547812313		TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr10:85971434G>T	ENST00000372117.3	+	14	1619	c.1516G>T	c.(1516-1518)Gaa>Taa	p.E506*	CDHR1_ENST00000332904.3_Nonsense_Mutation_p.E506*|CDHR1_ENST00000440770.2_Nonsense_Mutation_p.E210*	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	506	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cellular process (GO:0009987)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						ACCCTGGGGCGAAGTGAAATA	0.572																																																	0													124.0	124.0	124.0					10																	85971434		2203	4300	6503	SO:0001587	stop_gained	0			AB053448	CCDS7372.1, CCDS53548.1	10q23.1	2014-01-28	2010-01-25	2010-01-25	ENSG00000148600	ENSG00000148600		"""Cadherins / Cadherin-related"""	14550	protein-coding gene	gene with protein product		609502	"""protocadherin 21"""	PCDH21		11597768	Standard	NM_001171971		Approved	KIAA1775, CORD15, RP65	uc001kcv.3	Q96JP9	OTTHUMG00000018634	ENST00000372117.3:c.1516G>T	10.37:g.85971434G>T	ENSP00000361189:p.Glu506*		Q69YZ8|Q8IXY5	Nonsense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E506*	ENST00000372117.3	37	c.1516	CCDS7372.1	10	.	.	.	.	.	.	.	.	.	.	G	22.6	4.312997	0.81358	.	.	ENSG00000148600	ENST00000332904;ENST00000372117;ENST00000440770	.	.	.	5.74	1.18	0.20946	.	0.292876	0.42172	D	0.000744	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.1501	5.1073	0.14790	0.293:0.1448:0.5622:0.0	.	.	.	.	X	506;506;210	.	ENSP00000331063:E506X	E	+	1	0	CDHR1	85961414	1.000000	0.71417	0.055000	0.19348	0.446000	0.32137	3.398000	0.52579	-0.048000	0.13401	0.655000	0.94253	GAA	CDHR1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000148600		0.572	CDHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDHR1	HGNC	protein_coding	OTTHUMT00000049111.1		0.00	50	0	G	NM_033100		85971434	+1			no_errors	ENST00000372117	ensembl	human	known	74_37	nonsense	5.19	73	4	SNP	0.812	T
CDK5RAP2	55755	genome.wustl.edu	37	9	123223027	123223027	+	Intron	DEL	T	T	-	rs552805136|rs74758129		TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr9:123223027delT	ENST00000349780.4	-	19	2286				CDK5RAP2_ENST00000359309.3_Intron|CDK5RAP2_ENST00000360190.4_Intron|CDK5RAP2_ENST00000360822.3_Intron	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2						brain development (GO:0007420)|centrosome organization (GO:0051297)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of centriole replication (GO:0046600)|negative regulation of neuron differentiation (GO:0045665)|neurogenesis (GO:0022008)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of spindle checkpoint (GO:0090231)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						CAGTGATGTCTTTTTTTTTTT	0.353																																																	0																																										SO:0001627	intron_variant	0			BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861			18672	protein-coding gene	gene with protein product	"""centrosomin"""	608201	"""microcephaly, primary autosomal recessive 3"""	MCPH3		10721722, 17764569, 24466316	Standard	NM_018249		Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.2107-82A>-	9.37:g.123223027delT			Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Splice_Site	DEL	-	e19-2	ENST00000349780.4	37	c.2104-2	CCDS6823.1	9																																																																																			CDK5RAP2	-	-	ENSG00000136861		0.353	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDK5RAP2	HGNC	protein_coding	OTTHUMT00000055535.1		0.00	19	0	T	NM_018249		123223027	-1	tier1		no_errors	ENST00000480112	ensembl	human	known	74_37	splice_site_del	10.20	44	5	DEL	0.979	-
CEACAM18	729767	genome.wustl.edu	37	19	51986386	51986386	+	Silent	SNP	C	C	G			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr19:51986386C>G	ENST00000396477.4	+	4	810	c.789C>G	c.(787-789)ctC>ctG	p.L263L	CEACAM18_ENST00000451626.1_Silent_p.L324L	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 18	263	Ig-like C2-type.									breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TCCTGGATCTCAAGTACCACT	0.512																																																	0													185.0	181.0	182.0					19																	51986386		2020	4183	6203	SO:0001819	synonymous_variant	0					19q13.41	2013-01-29				ENSG00000213822		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	31949	protein-coding gene	gene with protein product							Standard	NM_001278392		Approved		uc002pwv.1	A8MTB9		ENST00000396477.4:c.789C>G	19.37:g.51986386C>G			C9JN24	Silent	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.L324	ENST00000396477.4	37	c.972		19																																																																																			CEACAM18	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000213822		0.512	CEACAM18-001	PUTATIVE	not_organism_supported|basic|appris_candidate	protein_coding	CEACAM18	HGNC	protein_coding	OTTHUMT00000323114.2	-	0.00	68	0	C			51986386	+1	tier1	-	no_errors	ENST00000451626	ensembl	human	known	74_37	silent	92.59	4	50	SNP	0.000	G
CER1	9350	genome.wustl.edu	37	9	14722203	14722203	+	Missense_Mutation	SNP	T	T	G	rs373587912		TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr9:14722203T>G	ENST00000380911.3	-	1	512	c.468A>C	c.(466-468)gaA>gaC	p.E156D		NM_005454.2	NP_005445.1	O95813	CER1_HUMAN	cerberus 1, DAN family BMP antagonist	156					anterior/posterior axis specification (GO:0009948)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway (GO:0030509)|bone mineralization (GO:0030282)|cell migration involved in gastrulation (GO:0042074)|cellular response to BMP stimulus (GO:0071773)|determination of dorsal identity (GO:0048263)|gastrulation (GO:0007369)|growth plate cartilage chondrocyte proliferation (GO:0003419)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mesoderm development (GO:2000381)|nervous system development (GO:0007399)|sequestering of BMP in extracellular matrix (GO:0035582)|signal transduction involved in regulation of gene expression (GO:0023019)|ureteric bud development (GO:0001657)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	BMP binding (GO:0036122)|morphogen activity (GO:0016015)|protein homodimerization activity (GO:0042803)			endometrium(2)|large_intestine(3)|lung(6)	11				GBM - Glioblastoma multiforme(50;3.16e-06)		CCCAATGTACTTCATGGCTTT	0.522																																																	0													93.0	88.0	90.0					9																	14722203		2203	4300	6503	SO:0001583	missense	0			AF090189	CCDS6476.1	9p23-p22	2013-02-26	2013-02-26		ENSG00000147869	ENSG00000147869			1862	protein-coding gene	gene with protein product		603777	"""cerberus 1 (Xenopus laevis) homolog (cysteine knot superfamily)"", ""cerberus 1, cysteine knot superfamily, homolog (Xenopus laevis)"""			10049596	Standard	NM_005454		Approved	DAND4	uc003zlj.3	O95813	OTTHUMG00000021022	ENST00000380911.3:c.468A>C	9.37:g.14722203T>G	ENSP00000370297:p.Glu156Asp		Q6ISJ1|Q6ISJ6|Q6ISQ2|Q6ISS1	Missense_Mutation	SNP	pfam_DAN,pfam_Cys_knot,smart_Cys_knot_C,pirsf_Cerberus,pfscan_Cys_knot_C	p.E156D	ENST00000380911.3	37	c.468	CCDS6476.1	9	.	.	.	.	.	.	.	.	.	.	T	16.79	3.219371	0.58560	.	.	ENSG00000147869	ENST00000380911	T	0.31510	1.49	5.1	2.77	0.32553	DAN (1);	0.085246	0.50627	N	0.000103	T	0.28896	0.0717	L	0.50333	1.59	0.33704	D	0.614868	B	0.24618	0.107	B	0.35899	0.213	T	0.29941	-0.9995	10	0.40728	T	0.16	-11.0753	6.0707	0.19887	0.0:0.0845:0.1765:0.739	.	156	O95813	CER1_HUMAN	D	156	ENSP00000370297:E156D	ENSP00000370297:E156D	E	-	3	2	CER1	14712203	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	0.537000	0.23144	0.411000	0.25702	0.533000	0.62120	GAA	CER1	-	pfam_DAN,pirsf_Cerberus	ENSG00000147869		0.522	CER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CER1	HGNC	protein_coding	OTTHUMT00000055453.1	-	0.00	45	0	T	NM_005454		14722203	-1	tier1	-	no_errors	ENST00000380911	ensembl	human	known	74_37	missense	40.00	36	24	SNP	1.000	G
CHRNB2	1141	genome.wustl.edu	37	1	154542074	154542074	+	Silent	SNP	C	C	A			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr1:154542074C>A	ENST00000368476.3	+	2	465	c.201C>A	c.(199-201)ctC>ctA	p.L67L		NM_000748.2	NP_000739.1	P17787	ACHB2_HUMAN	cholinergic receptor, nicotinic, beta 2 (neuronal)	67					action potential (GO:0001508)|associative learning (GO:0008306)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|central nervous system projection neuron axonogenesis (GO:0021952)|cognition (GO:0050890)|conditioned taste aversion (GO:0001661)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|lateral geniculate nucleus development (GO:0021771)|learning (GO:0007612)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|neurological system process (GO:0050877)|optic nerve morphogenesis (GO:0021631)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|protein heterooligomerization (GO:0051291)|regulation of circadian sleep/wake cycle, non-REM sleep (GO:0045188)|regulation of circadian sleep/wake cycle, REM sleep (GO:0042320)|regulation of dendrite morphogenesis (GO:0048814)|regulation of dopamine metabolic process (GO:0042053)|regulation of dopamine secretion (GO:0014059)|regulation of synapse assembly (GO:0051963)|regulation of synaptic transmission, dopaminergic (GO:0032225)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|sensory perception of pain (GO:0019233)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|social behavior (GO:0035176)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)|vestibulocochlear nerve development (GO:0021562)|visual learning (GO:0008542)|visual perception (GO:0007601)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|drug binding (GO:0008144)|ligand-gated ion channel activity (GO:0015276)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Dextromethorphan(DB00514)|Galantamine(DB00674)|Nicotine(DB00184)	TGGCCCAGCTCATCAGTGTGG	0.547																																																	0													52.0	50.0	50.0					1																	154542074		2203	4300	6503	SO:0001819	synonymous_variant	0			U62437	CCDS1070.1	1q21.3	2012-02-11	2006-02-01		ENSG00000160716	ENSG00000160716		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1962	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 2 (neuronal)"""	118507	"""cholinergic receptor, nicotinic, beta polypeptide 2 (neuronal)"""			1505988	Standard	NM_000748		Approved		uc001ffg.3	P17787	OTTHUMG00000037262	ENST00000368476.3:c.201C>A	1.37:g.154542074C>A			Q9UEH9	Silent	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.L67	ENST00000368476.3	37	c.201	CCDS1070.1	1																																																																																			CHRNB2	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,tigrfam_Neur_channel	ENSG00000160716		0.547	CHRNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNB2	HGNC	protein_coding	OTTHUMT00000090697.1	-	0.00	66	0	C	NM_000748		154542074	+1	tier1	-	no_errors	ENST00000368476	ensembl	human	known	74_37	silent	31.91	64	30	SNP	1.000	A
CHRNB4	1143	genome.wustl.edu	37	15	78917609	78917609	+	Missense_Mutation	SNP	C	C	T			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr15:78917609C>T	ENST00000261751.3	-	6	1474	c.1363G>A	c.(1363-1365)Gct>Act	p.A455T	RP11-335K5.2_ENST00000559120.1_RNA|CHRNB4_ENST00000412074.2_Nonsense_Mutation_p.W128*	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	455					action potential (GO:0001508)|behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|regulation of neurotransmitter secretion (GO:0046928)|regulation of smooth muscle contraction (GO:0006940)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22					Dextromethorphan(DB00514)|Galantamine(DB00674)|Levomethadyl Acetate(DB01227)|Nicotine(DB00184)|Pentolinium(DB01090)	ACCACCATAGCCACGTACTTC	0.602																																																	0													244.0	202.0	216.0					15																	78917609		2196	4293	6489	SO:0001583	missense	0			U48861	CCDS10306.1, CCDS58392.1	15q24	2012-02-11	2012-02-07		ENSG00000117971	ENSG00000117971		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1964	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 4 (neuronal)"""	118509	"""cholinergic receptor, nicotinic, beta polypeptide 4"""			2004777	Standard	NM_000750		Approved		uc002bed.1	P30926	OTTHUMG00000143860	ENST00000261751.3:c.1363G>A	15.37:g.78917609C>T	ENSP00000261751:p.Ala455Thr		A4FTX5|E9PHE8|Q16607|Q4VBA5|Q8WXC8|Q9BQR4	Nonsense_Mutation	SNP	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel	p.W128*	ENST00000261751.3	37	c.384	CCDS10306.1	15	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.367927|6.367927	0.97511|0.97511	.|.	.|.	ENSG00000117971|ENSG00000117971	ENST00000261751|ENST00000412074	T|.	0.77358|.	-1.09|.	5.23|5.23	5.23|5.23	0.72850|0.72850	Neurotransmitter-gated ion-channel transmembrane domain (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.89001|.	0.6591|.	H|H	0.97852|0.97852	4.09|4.09	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|.	0.92953|.	0.6382|.	10|.	0.87932|0.87932	D|D	0|0	.|.	17.937|17.937	0.89015|0.89015	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	455|.	P30926|.	ACHB4_HUMAN|.	T|X	455|128	ENSP00000261751:A455T|.	ENSP00000261751:A455T|ENSP00000416386:W128X	A|W	-|-	1|3	0|0	CHRNB4|CHRNB4	76704664|76704664	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.791000|7.791000	0.85805|0.85805	2.600000|2.600000	0.87896|0.87896	0.561000|0.561000	0.74099|0.74099	GCT|TGG	CHRNB4	-	NULL	ENSG00000117971		0.602	CHRNB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNB4	HGNC	protein_coding	OTTHUMT00000290108.1	-	0.00	33	0	C			78917609	-1	tier1	-	no_errors	ENST00000412074	ensembl	human	putative	74_37	nonsense	6.06	62	4	SNP	1.000	T
CLK2	1196	genome.wustl.edu	37	1	155232982	155232982	+	3'UTR	SNP	G	G	C			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr1:155232982G>C	ENST00000368361.4	-	0	1842				CLK2_ENST00000536801.1_3'UTR|CLK2_ENST00000497188.1_5'UTR|CLK2_ENST00000361168.5_3'UTR|SCAMP3_ENST00000355379.3_5'Flank|SCAMP3_ENST00000302631.3_5'Flank|CLK2_ENST00000355560.4_3'UTR|SCAMP3_ENST00000472397.1_5'Flank			P49760	CLK2_HUMAN	CDC-like kinase 2						negative regulation of gluconeogenesis (GO:0045721)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)|response to ionizing radiation (GO:0010212)|response to retinoic acid (GO:0032526)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TGCTATAAAAGATGCAGGGGG	0.552								Other conserved DNA damage response genes																																									0													21.0	24.0	23.0					1																	155232982		2203	4300	6503	SO:0001624	3_prime_UTR_variant	0			L29218	CCDS1107.1, CCDS72939.1	1q21	2008-05-02			ENSG00000176444	ENSG00000176444		"""CDC-like kinases"""	2069	protein-coding gene	gene with protein product		602989				7990150, 9856501	Standard	XM_005244876		Approved	clk2	uc001fjw.3	P49760	OTTHUMG00000035873	ENST00000368361.4:c.*27C>G	1.37:g.155232982G>C			B1AVS9|B5MBX6|Q96CQ0	RNA	SNP	-	NULL	ENST00000368361.4	37	NULL		1																																																																																			CLK2	-	-	ENSG00000176444		0.552	CLK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	CLK2	HGNC	protein_coding	OTTHUMT00000087391.1	-	0.00	38	0	G	NM_003993		155232982	-1	tier1	-	no_errors	ENST00000476983	ensembl	human	known	74_37	rna	44.44	35	28	SNP	0.001	C
CLUH	23277	genome.wustl.edu	37	17	2598212	2598212	+	Frame_Shift_Del	DEL	G	G	-			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr17:2598212delG	ENST00000570628.2	-	16	2779	c.2674delC	c.(2674-2676)cagfs	p.Q892fs	CLUH_ENST00000435359.1_Frame_Shift_Del_p.Q892fs|CLUH_ENST00000538975.1_Frame_Shift_Del_p.Q892fs			O75153	CLU_HUMAN	clustered mitochondria (cluA/CLU1) homolog	892					intracellular distribution of mitochondria (GO:0048312)	cytoplasm (GO:0005737)											CAGAGCTCCTGGGGGGTCATG	0.632																																																	0													18.0	22.0	21.0					17																	2598212		1876	4096	5972	SO:0001589	frameshift_variant	0			AB014564	CCDS45572.1	17p13.3	2012-12-18	2012-11-30	2012-11-30	ENSG00000132361	ENSG00000132361			29094	protein-coding gene	gene with protein product			"""KIAA0664"""	KIAA0664			Standard	XM_005256567		Approved	CLU1	uc002fuy.1	O75153	OTTHUMG00000177575	ENST00000570628.2:c.2674delC	17.37:g.2598212delG	ENSP00000458986:p.Gln892fs		Q6AHY2|Q6P3X7|Q6ZUG8|Q8N4U7|Q9BTA3|Q9H979	Frame_Shift_Del	DEL	superfamily_GSKIP_dom	p.Q892fs	ENST00000570628.2	37	c.2674	CCDS45572.1	17																																																																																			CLUH	-	NULL	ENSG00000132361		0.632	CLUH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLUH	HGNC	protein_coding	OTTHUMT00000437807.2		0.00	66	0	G	NM_015229		2598212	-1	tier1		no_errors	ENST00000435359	ensembl	human	known	74_37	frame_shift_del	5.77	49	3	DEL	1.000	-
CNTN3	5067	genome.wustl.edu	37	3	74385746	74385746	+	Silent	SNP	A	A	C			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr3:74385746A>C	ENST00000263665.6	-	11	1455	c.1428T>G	c.(1426-1428)acT>acG	p.T476T		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	476	Ig-like C2-type 5.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		TGCAGGTGTAAGTTCCAGCAT	0.353																																																	0													140.0	119.0	126.0					3																	74385746		2203	4299	6502	SO:0001819	synonymous_variant	0			AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.1428T>G	3.37:g.74385746A>C			B9EK50|Q9H039	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.T476	ENST00000263665.6	37	c.1428	CCDS33790.1	3																																																																																			CNTN3	-	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000113805		0.353	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN3	HGNC	protein_coding	OTTHUMT00000352306.1	-	0.00	25	0	A	NM_020872		74385746	-1	tier1	-	no_errors	ENST00000263665	ensembl	human	known	74_37	silent	52.78	17	19	SNP	0.046	C
COL12A1	1303	genome.wustl.edu	37	6	75804854	75804854	+	Missense_Mutation	SNP	C	C	A			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr6:75804854C>A	ENST00000322507.8	-	60	8928	c.8619G>T	c.(8617-8619)aaG>aaT	p.K2873N	COL12A1_ENST00000416123.2_Missense_Mutation_p.K2797N|COL12A1_ENST00000483888.2_Missense_Mutation_p.K2869N|COL12A1_ENST00000345356.6_Missense_Mutation_p.K1709N|COL12A1_ENST00000511023.1_5'UTR	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2873	Collagen-like 3.|Triple-helical region (COL2) with 1 imperfection.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						GTTTTCCTGGCTTCCCACTTG	0.493																																																	0													87.0	84.0	85.0					6																	75804854		1913	4137	6050	SO:0001583	missense	0			U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.8619G>T	6.37:g.75804854C>A	ENSP00000325146:p.Lys2873Asn		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A	p.K2873N	ENST00000322507.8	37	c.8619	CCDS43482.1	6	.	.	.	.	.	.	.	.	.	.	C	18.01	3.527290	0.64860	.	.	ENSG00000111799	ENST00000322507;ENST00000425443;ENST00000432784;ENST00000345356;ENST00000416123;ENST00000483888	D;D;D;D;D	0.94232	-3.38;-3.38;-3.38;-3.38;-3.37	5.62	0.655	0.17839	.	0.104529	0.64402	D	0.000005	D	0.90648	0.7067	L	0.28740	0.885	0.40347	D	0.979097	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.88801	0.3285	10	0.48119	T	0.1	.	10.986	0.47523	0.0:0.414:0.0:0.586	.	1709;2873	Q99715-2;Q99715	.;COCA1_HUMAN	N	2873;511;2797;1709;2797;2869	ENSP00000325146:K2873N;ENSP00000399812:K511N;ENSP00000305147:K1709N;ENSP00000412864:K2797N;ENSP00000421216:K2869N	ENSP00000325146:K2873N	K	-	3	2	COL12A1	75861574	0.993000	0.37304	0.998000	0.56505	0.953000	0.61014	0.194000	0.17135	-0.104000	0.12154	-0.484000	0.04775	AAG	COL12A1	-	pfam_Collagen	ENSG00000111799		0.493	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL12A1	HGNC	protein_coding	OTTHUMT00000041249.3	-	0.00	36	0	C	NM_004370		75804854	-1	tier1	-	no_errors	ENST00000322507	ensembl	human	known	74_37	missense	84.21	6	32	SNP	1.000	A
COL4A5	1287	genome.wustl.edu	37	X	107920802	107920802	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chrX:107920802G>T	ENST00000361603.2	+	42	4107	c.3863G>T	c.(3862-3864)gGc>gTc	p.G1288V	COL4A5_ENST00000328300.6_Missense_Mutation_p.G1294V|Y_RNA_ENST00000384417.1_RNA	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1288	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GGAAATCCAGGCCAACCTGGG	0.483									Alport syndrome with Diffuse Leiomyomatosis																																								0													93.0	79.0	83.0					X																	107920802		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database		M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"""Collagens"""	2207	protein-coding gene	gene with protein product		303630	"""Alport syndrome"""	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.3863G>T	X.37:g.107920802G>T	ENSP00000354505:p.Gly1288Val		Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Missense_Mutation	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.G1294V	ENST00000361603.2	37	c.3881	CCDS14543.1	X	.	.	.	.	.	.	.	.	.	.	G	20.1	3.938252	0.73557	.	.	ENSG00000188153	ENST00000328300;ENST00000361603;ENST00000508186	D;D	0.99637	-6.29;-6.29	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	D	0.99785	0.9910	H	0.96301	3.8	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97014	0.9738	10	0.87932	D	0	.	18.5074	0.90902	0.0:0.0:1.0:0.0	.	1291;1288	E7EVY4;P29400	.;CO4A5_HUMAN	V	1294;1288;1294	ENSP00000331902:G1294V;ENSP00000354505:G1288V	ENSP00000331902:G1294V	G	+	2	0	COL4A5	107807458	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.420000	0.97426	2.400000	0.81607	0.594000	0.82650	GGC	COL4A5	-	pfam_Collagen	ENSG00000188153		0.483	COL4A5-001	KNOWN	basic|CCDS	protein_coding	COL4A5	HGNC	protein_coding	OTTHUMT00000057880.2	-	0.00	28	0	G			107920802	+1	tier1	-	no_errors	ENST00000328300	ensembl	human	known	74_37	missense	8.33	44	4	SNP	1.000	T
COL5A1	1289	genome.wustl.edu	37	9	137687132	137687132	+	Missense_Mutation	SNP	C	C	T			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr9:137687132C>T	ENST00000371817.3	+	34	3184	c.2770C>T	c.(2770-2772)Cgg>Tgg	p.R924W		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	924	Triple-helical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		AAGAGGCCCCCGGGGCATCAC	0.637																																																	0													71.0	76.0	75.0					9																	137687132		2203	4300	6503	SO:0001583	missense	0			D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.2770C>T	9.37:g.137687132C>T	ENSP00000360882:p.Arg924Trp		Q15094|Q5SUX4	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C	p.R924W	ENST00000371817.3	37	c.2770	CCDS6982.1	9	.	.	.	.	.	.	.	.	.	.	C	18.36	3.607356	0.66558	.	.	ENSG00000130635	ENST00000371817	D	0.94376	-3.41	4.22	3.21	0.36854	.	0.000000	0.85682	U	0.000000	D	0.95519	0.8544	M	0.73962	2.25	0.50039	D	0.999845	D	0.89917	1.0	D	0.87578	0.998	D	0.95038	0.8175	10	0.72032	D	0.01	.	9.2412	0.37498	0.5275:0.4725:0.0:0.0	.	924	P20908	CO5A1_HUMAN	W	924	ENSP00000360882:R924W	ENSP00000360882:R924W	R	+	1	2	COL5A1	136826953	0.809000	0.29036	1.000000	0.80357	0.836000	0.47400	1.595000	0.36708	1.904000	0.55121	0.297000	0.19635	CGG	COL5A1	-	NULL	ENSG00000130635		0.637	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL5A1	HGNC	protein_coding	OTTHUMT00000054954.2	-	0.00	73	0	C	NM_000093		137687132	+1	tier1	-	no_errors	ENST00000371817	ensembl	human	known	74_37	missense	55.88	29	38	SNP	0.985	T
CPNE8	144402	genome.wustl.edu	37	12	39047739	39047739	+	Nonsense_Mutation	SNP	G	G	T	rs146804518		TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr12:39047739G>T	ENST00000331366.5	-	20	1736	c.1640C>A	c.(1639-1641)tCa>tAa	p.S547*	CPNE8_ENST00000546603.1_5'UTR|CPNE8_ENST00000538596.2_Nonsense_Mutation_p.S216*|CPNE8_ENST00000360449.3_Nonsense_Mutation_p.S535*	NM_153634.2	NP_705898.1	Q86YQ8	CPNE8_HUMAN	copine VIII	547						extracellular vesicular exosome (GO:0070062)				NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				AGGCGCAGGTGATGGCTTGAT	0.468																																																	0													107.0	100.0	102.0					12																	39047739		2203	4300	6503	SO:0001587	stop_gained	0			AY177785	CCDS8733.1	12q12	2008-02-05				ENSG00000139117			23498	protein-coding gene	gene with protein product						12670487	Standard	NM_153634		Approved		uc001rls.1	Q86YQ8	OTTHUMG00000169396	ENST00000331366.5:c.1640C>A	12.37:g.39047739G>T	ENSP00000329748:p.Ser547*		Q2TB41|Q86VY2	Nonsense_Mutation	SNP	pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom,pfscan_VWF_A	p.S547*	ENST00000331366.5	37	c.1640	CCDS8733.1	12	.	.	.	.	.	.	.	.	.	.	g	34	5.360385	0.95877	.	.	ENSG00000139117	ENST00000331366;ENST00000538596;ENST00000360449	.	.	.	4.82	3.93	0.45458	.	0.229124	0.38326	N	0.001722	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	-5.3086	9.0571	0.36412	0.1732:0.0:0.8268:0.0	.	.	.	.	X	547;216;535	.	ENSP00000329748:S547X	S	-	2	0	CPNE8	37334006	0.033000	0.19621	0.255000	0.24374	0.485000	0.33311	1.187000	0.32090	1.162000	0.42619	-0.119000	0.15052	TCA	CPNE8	-	NULL	ENSG00000139117		0.468	CPNE8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPNE8	HGNC	protein_coding	OTTHUMT00000403856.1	-	0.00	32	0	G	NM_153634		39047739	-1	tier1	-	no_errors	ENST00000331366	ensembl	human	known	74_37	nonsense	11.76	30	4	SNP	0.001	T
COQ5	84274	genome.wustl.edu	37	12	120966890	120966890	+	Silent	SNP	G	G	T			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr12:120966890G>T	ENST00000288532.6	-	1	95	c.55C>A	c.(55-57)Cgg>Agg	p.R19R	COQ5_ENST00000445328.2_Silent_p.R19R	NM_032314.3	NP_115690.3	Q5HYK3	COQ5_HUMAN	coenzyme Q5 homolog, methyltransferase (S. cerevisiae)	19					small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)	methyltransferase activity (GO:0008168)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(3)	20	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CGCATCGCCCGCGACCACCCA	0.647																																																	0													28.0	32.0	31.0					12																	120966890		2202	4300	6502	SO:0001819	synonymous_variant	0			AK057777	CCDS31912.1	12q24.31	2011-09-16	2006-04-04		ENSG00000110871	ENSG00000110871	2.1.1.201		28722	protein-coding gene	gene with protein product	"""2-methoxy-6-polyprenyl-1,4-benzoquinol methylase"""		"""coenzyme Q5 homolog, methyltransferase (yeast)"""				Standard	NM_032314		Approved	MGC4767	uc001tyn.3	Q5HYK3	OTTHUMG00000169375	ENST00000288532.6:c.55C>A	12.37:g.120966890G>T			B4DEJ4|Q32Q28|Q53HH0|Q96LV1|Q9BSP8	Silent	SNP	pfam_UbiE/COQ5_MeTrFase,pfam_Methyltransf_11,pfam_Methyltransf_12,tigrfam_UbiE/COQ5_MeTrFase	p.R19	ENST00000288532.6	37	c.55	CCDS31912.1	12																																																																																			COQ5	-	NULL	ENSG00000110871		0.647	COQ5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COQ5	HGNC	protein_coding	OTTHUMT00000403767.2		0.00	35	0	G	NM_032314		120966890	-1			no_errors	ENST00000288532	ensembl	human	known	74_37	silent	5.97	62	4	SNP	0.001	T
CSMD2	114784	genome.wustl.edu	37	1	34066493	34066493	+	Silent	SNP	T	T	C			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr1:34066493T>C	ENST00000373380.1	-	23	3667	c.3447A>G	c.(3445-3447)acA>acG	p.T1149T	CSMD2_ENST00000373381.4_Silent_p.T2276T|CSMD2_ENST00000373388.2_Silent_p.T375T|CSMD2_ENST00000489419.1_5'UTR|CSMD2_ENST00000373377.1_Silent_p.T375T			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2278	CUB 7. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AGATCCCCCCTGTGGCTGCAT	0.592																																																	0													170.0	151.0	157.0					1																	34066493		2203	4300	6503	SO:0001819	synonymous_variant	0			AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373380.1:c.3447A>G	1.37:g.34066493T>C			B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Silent	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.T2276	ENST00000373380.1	37	c.6828		1																																																																																			CSMD2	-	superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000121904		0.592	CSMD2-002	KNOWN	basic	protein_coding	CSMD2	HGNC	protein_coding	OTTHUMT00000030635.4		0.00	69	0	T	NM_052896		34066493	-1			no_errors	ENST00000373381	ensembl	human	known	74_37	silent	5.19	73	4	SNP	0.001	C
CSNK1A1L	122011	genome.wustl.edu	37	13	37678392	37678392	+	Silent	SNP	C	C	T			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr13:37678392C>T	ENST00000379800.3	-	1	1411	c.1002G>A	c.(1000-1002)gtG>gtA	p.V334V		NM_145203.5	NP_660204.2	Q8N752	KC1AL_HUMAN	casein kinase 1, alpha 1-like	334					cell morphogenesis (GO:0000902)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)		AGTTATCTTTCACATTATTCT	0.448																																																	0													133.0	132.0	132.0					13																	37678392		2203	4300	6503	SO:0001819	synonymous_variant	0			BC028723	CCDS9363.1	13q13.2	2008-02-05			ENSG00000180138	ENSG00000180138			20289	protein-coding gene	gene with protein product							Standard	NM_145203		Approved	MGC33182	uc001uwm.1	Q8N752	OTTHUMG00000016748	ENST00000379800.3:c.1002G>A	13.37:g.37678392C>T			Q5T2N2	Silent	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	p.V334	ENST00000379800.3	37	c.1002	CCDS9363.1	13																																																																																			CSNK1A1L	-	NULL	ENSG00000180138		0.448	CSNK1A1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSNK1A1L	HGNC	protein_coding	OTTHUMT00000044563.1	-	0.00	29	0	C	NM_145203		37678392	-1	tier1	-	no_errors	ENST00000379800	ensembl	human	known	74_37	silent	7.14	78	6	SNP	1.000	T
CTIF	9811	genome.wustl.edu	37	18	46287983	46287983	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr18:46287983G>T	ENST00000256413.3	+	9	1589	c.1294G>T	c.(1294-1296)Gcc>Tcc	p.A432S	CTIF_ENST00000382998.4_Missense_Mutation_p.A434S	NM_014772.2	NP_055587.1	O43310	CTIF_HUMAN	CBP80/20-dependent translation initiation factor	432	MIF4G.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational initiation (GO:0006446)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	31						CTTCACCGCTGCCAAGCTCTG	0.617																																																	0													100.0	86.0	91.0					18																	46287983		2203	4300	6503	SO:0001583	missense	0			AB007887	CCDS11935.1, CCDS45864.1	18q21.1	2011-01-20	2011-01-20	2011-01-20	ENSG00000134030	ENSG00000134030			23925	protein-coding gene	gene with protein product		613178	"""KIAA0427"""	KIAA0427		9455477, 19648179	Standard	NM_014772		Approved		uc002ldd.3	O43310	OTTHUMG00000132656	ENST00000256413.3:c.1294G>T	18.37:g.46287983G>T	ENSP00000256413:p.Ala432Ser		B3KTR8|Q8IVD5	Missense_Mutation	SNP	pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3	p.A434S	ENST00000256413.3	37	c.1300	CCDS11935.1	18	.	.	.	.	.	.	.	.	.	.	G	29.3	4.998573	0.93227	.	.	ENSG00000134030	ENST00000256413;ENST00000382998;ENST00000420275	T;T	0.40225	1.04;1.04	5.51	5.51	0.81932	MIF4G-like, type 3 (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.051675	0.85682	D	0.000000	T	0.58609	0.2134	M	0.66939	2.045	0.80722	D	1	D;D	0.57899	0.981;0.966	P;P	0.55303	0.763;0.773	T	0.59568	-0.7430	10	0.52906	T	0.07	-33.9557	19.0419	0.93004	0.0:0.0:1.0:0.0	.	434;432	O43310-2;O43310	.;CTIF_HUMAN	S	432;434;384	ENSP00000256413:A432S;ENSP00000372459:A434S	ENSP00000256413:A432S	A	+	1	0	CTIF	44541981	1.000000	0.71417	0.998000	0.56505	0.904000	0.53231	9.476000	0.97823	2.600000	0.87896	0.655000	0.94253	GCC	CTIF	-	pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3	ENSG00000134030		0.617	CTIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTIF	HGNC	protein_coding	OTTHUMT00000255907.1	-	0.00	48	0	G	NM_014772		46287983	+1	tier1	-	no_errors	ENST00000382998	ensembl	human	known	74_37	missense	10.81	33	4	SNP	1.000	T
CTTNBP2NL	55917	genome.wustl.edu	37	1	112958898	112958899	+	Intron	INS	-	-	A	rs370406156		TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr1:112958898_112958899insA	ENST00000271277.6	+	3	324					NM_018704.2	NP_061174.1	Q9P2B4	CT2NL_HUMAN	CTTNBP2 N-terminal like						negative regulation of transmembrane transport (GO:0034763)|negative regulation of transporter activity (GO:0032410)|protein dephosphorylation (GO:0006470)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	protein phosphatase 2A binding (GO:0051721)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	29		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TATGTTAAAAGAAAAAAAAAAA	0.322																																																	0																																										SO:0001627	intron_variant	0			AB037854	CCDS845.1	1p13.2	2008-02-05			ENSG00000143079	ENSG00000143079			25330	protein-coding gene	gene with protein product		615100				10718198	Standard	NM_018704		Approved	DKFZp547A023	uc001ebx.3	Q9P2B4	OTTHUMG00000011154	ENST00000271277.6:c.99+12->A	1.37:g.112958909_112958909dupA			B3KMS5|Q96B40	RNA	INS	-	NULL	ENST00000271277.6	37	NULL	CCDS845.1	1																																																																																			CTTNBP2NL	-	-	ENSG00000143079		0.322	CTTNBP2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTTNBP2NL	HGNC	protein_coding	OTTHUMT00000030686.1		0.00	23	0	-	NM_018704		112958899	+1	tier1		no_errors	ENST00000502356	ensembl	human	known	74_37	rna	12.20	36	5	INS	0.000:0.000	A
CUBN	8029	genome.wustl.edu	37	10	16932470	16932470	+	Silent	SNP	G	G	A	rs369599232		TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr10:16932470G>A	ENST00000377833.4	-	55	8720	c.8655C>T	c.(8653-8655)aaC>aaT	p.N2885N		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2885	CUB 21. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CCGGAGCCACGTTCCCACAGC	0.562																																																	0								G		0,4406		0,0,2203	113.0	102.0	106.0		8655	-3.2	0.0	10		106	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CUBN	NM_001081.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		2885/3624	16932470	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.8655C>T	10.37:g.16932470G>A			B0YIZ4|Q5VTA6|Q96RU9	Silent	SNP	pfam_CUB_dom,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom	p.N2885	ENST00000377833.4	37	c.8655	CCDS7113.1	10																																																																																			CUBN	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000107611		0.562	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUBN	HGNC	protein_coding	OTTHUMT00000047009.1	-	0.00	66	0	G	NM_001081		16932470	-1	tier1	-	no_errors	ENST00000377833	ensembl	human	known	74_37	silent	40.23	51	35	SNP	0.000	A
CUL4B	8450	genome.wustl.edu	37	X	119694117	119694119	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	GAG	GAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chrX:119694117_119694119delGAG	ENST00000404115.3	-	3	830_832	c.429_431delCTC	c.(427-432)tcctca>tca	p.143_144SS>S	CUL4B_ENST00000336592.6_In_Frame_Del_p.130_131SS>S|CUL4B_ENST00000371322.5_In_Frame_Del_p.125_126SS>S	NM_003588.3	NP_003579.3	Q13620	CUL4B_HUMAN	cullin 4B	143	Ser-rich.				cell cycle (GO:0007049)|histone H2A monoubiquitination (GO:0035518)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of protein catabolic process (GO:0045732)|ubiquitin-dependent protein catabolic process (GO:0006511)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TGGTGAAGATgaggaggaggagg	0.488																																																	0									,	18,3703		0,6,12,1586,525					,	-9.6	0.5			58	72,6412		1,19,51,2337,1719	no	coding,coding	CUL4B	NM_003588.3,NM_001079872.1	,	1,25,63,3923,2244	A1A1,A1R,A1,RR,R		1.1104,0.4837,0.8819	,	,		90,10115				SO:0001651	inframe_deletion	0			U58091	CCDS35379.1, CCDS43987.1	Xq23	2011-05-24			ENSG00000158290	ENSG00000158290			2555	protein-coding gene	gene with protein product		300304				8681378	Standard	NM_003588		Approved		uc004esw.3	Q13620	OTTHUMG00000022302	ENST00000404115.3:c.429_431delCTC	X.37:g.119694126_119694128delGAG	ENSP00000384109:p.Ser146del		B1APK5|B3KVX4|B7Z5K8|Q6PIE4|Q6UP07|Q7Z673|Q9BY37|Q9UEB7|Q9UED7	In_Frame_Del	DEL	pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology	p.S146in_frame_del	ENST00000404115.3	37	c.431_429	CCDS35379.1	X																																																																																			CUL4B	-	NULL	ENSG00000158290		0.488	CUL4B-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	CUL4B	HGNC	protein_coding	OTTHUMT00000058103.1		0.00	21	0	GAG	NM_003588		119694119	-1	tier1		no_errors	ENST00000404115	ensembl	human	known	74_37	in_frame_del	15.15	28	5	DEL	0.999:1.000:1.000	-
Unknown	0	genome.wustl.edu	37	2	131188838	131188838	+	IGR	SNP	C	C	T			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr2:131188838C>T								AC140481.1 (3279 upstream) : CYP4F43P (4396 downstream)																							TTCCTGCTCTCCTGCTGCACC	0.507																																																	0																																										SO:0001628	intergenic_variant	0																															2.37:g.131188838C>T				RNA	SNP	-	NULL		37	NULL		2																																																																																			CYP4F43P	-	-	ENSG00000239402	0	0.507					CYP4F43P	HGNC			-	0.00	26	0	C			131188838	-1	tier1	-	no_errors	ENST00000455215	ensembl	human	known	74_37	rna	32.79	41	20	SNP	1.000	T
DEFB106B	503841	genome.wustl.edu	37	8	7340204	7340204	+	Silent	SNP	A	A	G	rs138253070	byFrequency	TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr8:7340204A>G	ENST00000335479.2	-	2	137	c.120T>C	c.(118-120)aaT>aaC	p.N40N		NM_001040704.1	NP_001035794.1	Q8N104	D106A_HUMAN	defensin, beta 106B	40					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)									COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.236)		TAAGTTCTTCATTTTTCCCGC	0.413																																																	0													8.0	11.0	10.0					8																	7340204		1657	3516	5173	SO:0001819	synonymous_variant	0				CCDS34813.1	8p23.1	2011-03-29			ENSG00000187082	ENSG00000187082		"""Defensins, beta"""	28879	protein-coding gene	gene with protein product							Standard	NM_001040704		Approved			Q8N104	OTTHUMG00000129312	ENST00000335479.2:c.120T>C	8.37:g.7340204A>G			Q2NKR0|Q496I8	Silent	SNP	NULL	p.N40	ENST00000335479.2	37	c.120	CCDS34813.1	8																																																																																			DEFB106B	-	NULL	ENSG00000187082		0.413	DEFB106B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEFB106B	HGNC	protein_coding	OTTHUMT00000251444.1	-	0.00	36	0	A			7340204	-1	tier1	rs138253070	no_errors	ENST00000335479	ensembl	human	known	74_37	silent	16.33	41	8	SNP	0.791	G
DNAH10	196385	genome.wustl.edu	37	12	124403387	124403387	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr12:124403387G>T	ENST00000409039.3	+	64	11068	c.11043G>T	c.(11041-11043)gaG>gaT	p.E3681D		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3681					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CCTTCTTAGAGGTCTTCAGGC	0.547																																																	0													63.0	65.0	64.0					12																	124403387		2085	4220	6305	SO:0001583	missense	0			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.11043G>T	12.37:g.124403387G>T	ENSP00000386770:p.Glu3681Asp		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_PyrdxlP-dep_Trfase,smart_AAA+_ATPase	p.E3681D	ENST00000409039.3	37	c.11043	CCDS9255.2	12	.	.	.	.	.	.	.	.	.	.	G	1.165	-0.642551	0.03531	.	.	ENSG00000197653	ENST00000409039	T	0.23348	1.91	5.79	-11.6	0.00059	.	0.432924	0.26023	N	0.026806	T	0.07369	0.0186	N	0.16833	0.445	0.53005	D	0.999969	B	0.06786	0.001	B	0.08055	0.003	T	0.43163	-0.9408	10	0.13108	T	0.6	.	4.3016	0.10927	0.1012:0.249:0.2:0.4498	.	3681	Q8IVF4	DYH10_HUMAN	D	3681	ENSP00000386770:E3681D	ENSP00000386770:E3681D	E	+	3	2	DNAH10	122969340	0.001000	0.12720	0.003000	0.11579	0.061000	0.15899	-1.743000	0.01834	-2.335000	0.00629	-0.314000	0.08810	GAG	DNAH10	-	NULL	ENSG00000197653		0.547	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH10	HGNC	protein_coding	OTTHUMT00000335420.3	-	0.00	45	0	G			124403387	+1	tier1	-	no_errors	ENST00000409039	ensembl	human	known	74_37	missense	71.05	11	27	SNP	0.001	T
DNM1P46	196968	genome.wustl.edu	37	15	100330953	100330953	+	RNA	SNP	G	G	T	rs555058805	byFrequency	TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr15:100330953G>T	ENST00000341853.1	-	0	3238				RN7SL484P_ENST00000462651.2_RNA|AC090825.1_ENST00000408584.1_RNA	NR_003260.1		Q6ZS02	DMP46_HUMAN	DNM1 pseudogene 46							microtubule (GO:0005874)	GTPase activity (GO:0003924)										GACAGCTCTGGAGGAacacat	0.353																																																	0													3.0	3.0	3.0					15																	100330953		736	1724	2460			0			AJ576275		15q26.3	2013-04-25			ENSG00000182397	ENSG00000182397			35199	pseudogene	pseudogene			"""chromosome 15 open reading frame 51"""	DNM1DN14@, C15orf51			Standard	NR_003260		Approved	DNM1DN14.2, FLJ45937, DKFZp434I1020	uc021sxl.1	Q6ZS02	OTTHUMG00000149852		15.37:g.100330953G>T			Q3ZCN3	RNA	SNP	-	NULL	ENST00000341853.1	37	NULL		15																																																																																			DNM1P46	-	-	ENSG00000182397		0.353	DNM1P46-002	KNOWN	basic	processed_transcript	DNM1P46	HGNC	pseudogene	OTTHUMT00000313543.1	-	0.00	26	0	G	NR_003260		100330953	-1	tier1	-	no_errors	ENST00000341853	ensembl	human	known	74_37	rna	10.53	34	4	SNP	0.011	T
DOCK1	1793	genome.wustl.edu	37	10	129172366	129172366	+	Missense_Mutation	SNP	G	G	A			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr10:129172366G>A	ENST00000280333.6	+	35	3609	c.3500G>A	c.(3499-3501)gGa>gAa	p.G1167E		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1167					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		GCCAAAACAGGAGAAACTTTT	0.408																																																	0													77.0	74.0	75.0					10																	129172366		1874	4112	5986	SO:0001583	missense	0			D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760			2987	protein-coding gene	gene with protein product	"""DOwnstream of CrK"""	601403	"""dedicator of cyto-kinesis 1"""			8657152, 8661160	Standard	XM_006717681		Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.3500G>A	10.37:g.129172366G>A	ENSP00000280333:p.Gly1167Glu		A9Z1Z5	Missense_Mutation	SNP	pfam_DOCK_C,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,superfamily_Cyt_c-like_dom,smart_SH3_domain,pfscan_SH3_domain	p.G1167E	ENST00000280333.6	37	c.3500		10	.	.	.	.	.	.	.	.	.	.	G	23.2	4.381733	0.82792	.	.	ENSG00000150760	ENST00000280333	T	0.25749	1.78	5.31	5.31	0.75309	.	0.123214	0.53938	D	0.000047	T	0.60650	0.2285	M	0.90309	3.105	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.79784	0.993;0.986;0.961	T	0.68492	-0.5394	10	0.87932	D	0	.	18.7713	0.91893	0.0:0.0:1.0:0.0	.	1167;1233;1167	B2RUU3;A8MU08;Q14185	.;.;DOCK1_HUMAN	E	1167	ENSP00000280333:G1167E	ENSP00000280333:G1167E	G	+	2	0	DOCK1	129062356	1.000000	0.71417	0.244000	0.24202	0.797000	0.45037	9.380000	0.97202	2.768000	0.95171	0.650000	0.86243	GGA	DOCK1	-	superfamily_ARM-type_fold	ENSG00000150760		0.408	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	DOCK1	HGNC	protein_coding	OTTHUMT00000050979.2	-	0.00	53	0	G	NM_001380		129172366	+1	tier1	-	no_errors	ENST00000280333	ensembl	human	known	74_37	missense	36.00	63	36	SNP	1.000	A
DRD3	1814	genome.wustl.edu	37	3	113878649	113878649	+	Missense_Mutation	SNP	C	C	T			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr3:113878649C>T	ENST00000460779.1	-	4	625	c.336G>A	c.(334-336)atG>atA	p.M112I	DRD3_ENST00000383673.2_Missense_Mutation_p.M112I|DRD3_ENST00000295881.7_Missense_Mutation_p.M112I|DRD3_ENST00000467632.1_Missense_Mutation_p.M112I	NM_001282563.1	NP_001269492.1	P35462	DRD3_HUMAN	dopamine receptor D3	112					acid secretion (GO:0046717)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|arachidonic acid secretion (GO:0050482)|behavioral response to cocaine (GO:0048148)|cellular calcium ion homeostasis (GO:0006874)|circadian regulation of gene expression (GO:0032922)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway (GO:0007186)|gastric emptying (GO:0035483)|learning (GO:0007612)|learning or memory (GO:0007611)|locomotory behavior (GO:0007626)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein secretion (GO:0050709)|negative regulation of sodium:proton antiporter activity (GO:0032416)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of mitosis (GO:0045840)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prepulse inhibition (GO:0060134)|regulation of blood volume by renin-angiotensin (GO:0002016)|regulation of cAMP metabolic process (GO:0030814)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|regulation of dopamine secretion (GO:0014059)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of lipid metabolic process (GO:0019216)|regulation of locomotion involved in locomotory behavior (GO:0090325)|regulation of multicellular organism growth (GO:0040014)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to histamine (GO:0034776)|response to morphine (GO:0043278)|social behavior (GO:0035176)|synaptic transmission, dopaminergic (GO:0001963)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|cell projection (GO:0042995)|endocytic vesicle (GO:0030139)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Amisulpride(DB06288)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Domperidone(DB01184)|Dopamine(DB00988)|Haloperidol(DB00502)|Iloperidone(DB04946)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pimozide(DB01100)|Pramipexole(DB00413)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sulpiride(DB00391)|Yohimbine(DB01392)|Ziprasidone(DB00246)	CTGTACACATCATGACATCCA	0.507																																																	0													170.0	140.0	150.0					3																	113878649		2203	4300	6503	SO:0001583	missense	0				CCDS2978.1, CCDS33829.1	3q13.3	2012-08-08			ENSG00000151577	ENSG00000151577		"""GPCR / Class A : Dopamine receptors"""	3024	protein-coding gene	gene with protein product		126451				1916765	Standard	XM_005247171		Approved		uc003ebc.1	P35462	OTTHUMG00000159334	ENST00000460779.1:c.336G>A	3.37:g.113878649C>T	ENSP00000419402:p.Met112Ile		A1A4V5|Q4VBM8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Dopamine_D3_rcpt,prints_GPCR_Rhodpsn,prints_Dopamine_rcpt	p.M112I	ENST00000460779.1	37	c.336	CCDS2978.1	3	.	.	.	.	.	.	.	.	.	.	C	24.8	4.571650	0.86542	.	.	ENSG00000151577	ENST00000460779;ENST00000467632;ENST00000383673;ENST00000281274;ENST00000295881	T;T;T;T	0.71579	-0.58;-0.58;-0.58;-0.58	4.58	4.58	0.56647	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.80949	0.4722	M	0.64170	1.965	0.80722	D	1	D;D;D;B	0.61080	0.989;0.989;0.989;0.441	D;D;D;B	0.68039	0.939;0.939;0.955;0.268	T	0.80719	-0.1257	10	0.41790	T	0.15	.	16.2952	0.82767	0.0:1.0:0.0:0.0	.	112;112;112;112	A1A4V4;A8K8E4;P35462;E9PCM4	.;.;DRD3_HUMAN;.	I	112	ENSP00000419402:M112I;ENSP00000420662:M112I;ENSP00000373169:M112I;ENSP00000295881:M112I	ENSP00000281274:M112I	M	-	3	0	DRD3	115361339	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.301000	0.78850	2.384000	0.81235	0.555000	0.69702	ATG	DRD3	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000151577		0.507	DRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DRD3	HGNC	protein_coding	OTTHUMT00000354699.1	-	0.00	35	0	C	NM_000796.3		113878649	-1	tier1	-	no_errors	ENST00000383673	ensembl	human	known	74_37	missense	20.43	74	19	SNP	1.000	T
DROSHA	29102	genome.wustl.edu	37	5	31508814	31508814	+	Missense_Mutation	SNP	C	C	G			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr5:31508814C>G	ENST00000511367.2	-	9	1745	c.1501G>C	c.(1501-1503)Gtt>Ctt	p.V501L	DROSHA_ENST00000344624.3_Missense_Mutation_p.V501L|Y_RNA_ENST00000383955.1_RNA|DROSHA_ENST00000442743.1_Missense_Mutation_p.V464L|DROSHA_ENST00000513349.1_Missense_Mutation_p.V464L	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	501	Necessary for interaction with DGCR8 and pri-miRNA processing activity.				defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|gene expression (GO:0010467)|miRNA metabolic process (GO:0010586)|pre-miRNA processing (GO:0031054)|primary miRNA processing (GO:0031053)|ribosome biogenesis (GO:0042254)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA catabolic process (GO:0016075)	nucleoplasm (GO:0005654)	lipopolysaccharide binding (GO:0001530)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonuclease III activity (GO:0004525)			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						ACGTCAAAAACTTCAGAGTCT	0.453																																																	0													115.0	108.0	110.0					5																	31508814		1904	4119	6023	SO:0001583	missense	0			AF116910	CCDS47194.1, CCDS47195.1	5q11.2	2010-11-17	2010-10-28	2010-10-28	ENSG00000113360	ENSG00000113360	3.1.26.3		17904	protein-coding gene	gene with protein product	"""drosha, ribonuclease type III"", ""drosha, double-stranded RNA-specific endoribonuclease"""	608828	"""ribonuclease type III, nuclear"""	RNASEN		10713462, 10948199	Standard	NM_013235		Approved	RNASE3L, Etohi2, HSA242976, RN3	uc003jhg.2	Q9NRR4	OTTHUMG00000161976	ENST00000511367.2:c.1501G>C	5.37:g.31508814C>G	ENSP00000425979:p.Val501Leu		E7EMP9|Q7Z5V2|Q86YH0|Q9NW73|Q9Y2V9|Q9Y4Y0	Missense_Mutation	SNP	pfam_RNase_III_dom,pfam_dsRNA-bd_dom,superfamily_RNase_III_dom,smart_RNase_III_dom,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom,pfscan_RNase_III_dom	p.V501L	ENST00000511367.2	37	c.1501	CCDS47195.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.3|20.3	3.963648|3.963648	0.74016|0.74016	.|.	.|.	ENSG00000113360|ENSG00000113360	ENST00000512076|ENST00000511367;ENST00000344624;ENST00000442743;ENST00000513349;ENST00000265075;ENST00000382188	.|T;T;T;T	.|0.45668	.|1.47;1.47;0.89;0.89	5.5|5.5	5.5|5.5	0.81552|0.81552	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.58750|0.58750	0.2144|0.2144	L|L	0.47716|0.47716	1.5|1.5	0.80722|0.80722	D|D	1|1	.|D;P;P	.|0.61697	.|0.99;0.841;0.817	.|D;P;B	.|0.75484	.|0.986;0.846;0.444	T|T	0.49495|0.49495	-0.8934|-0.8934	5|10	.|0.25751	.|T	.|0.34	-18.1387|-18.1387	19.3983|19.3983	0.94617|0.94617	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|433;464;501	.|Q9NRR4-2;E7EMP9;Q9NRR4	.|.;.;RNC_HUMAN	T|L	262|501;501;464;464;426;457	.|ENSP00000425979:V501L;ENSP00000339845:V501L;ENSP00000409335:V464L;ENSP00000424161:V464L	.|ENSP00000265075:V426L	S|V	-|-	2|1	0|0	DROSHA|DROSHA	31544571|31544571	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.968000|0.968000	0.65278|0.65278	7.487000|7.487000	0.81328|0.81328	2.596000|2.596000	0.87737|0.87737	0.650000|0.650000	0.86243|0.86243	AGT|GTT	DROSHA	-	NULL	ENSG00000113360		0.453	DROSHA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DROSHA	HGNC	protein_coding	OTTHUMT00000366561.3	-	0.00	70	0	C	NM_013235		31508814	-1	tier1	-	no_errors	ENST00000344624	ensembl	human	known	74_37	missense	19.11	126	30	SNP	1.000	G
DTX2	113878	genome.wustl.edu	37	7	76131710	76131710	+	Silent	SNP	C	C	A			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr7:76131710C>A	ENST00000324432.5	+	9	1836	c.1326C>A	c.(1324-1326)ctC>ctA	p.L442L	DTX2_ENST00000413936.2_Silent_p.L442L|DTX2_ENST00000446820.2_Silent_p.L395L|DTX2_ENST00000430490.2_Silent_p.L442L|DTX2_ENST00000307569.8_Silent_p.L395L|DTX2_ENST00000446600.1_Silent_p.L351L	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex 2, E3 ubiquitin ligase	442					Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						TGGGCCACCTCACCAAGTGCA	0.622																																																	0													90.0	62.0	71.0					7																	76131710		2200	4298	6498	SO:0001819	synonymous_variant	0				CCDS5587.1, CCDS43605.1	7q11.23	2014-01-28	2014-01-28		ENSG00000091073	ENSG00000091073		"""RING-type (C3HC4) zinc fingers"""	15973	protein-coding gene	gene with protein product		613141	"""deltex (Drosophila) homolog 2"", ""deltex homolog 2 (Drosophila)"""			12670957	Standard	NM_020892		Approved	RNF58, KIAA1528	uc003ufh.4	Q86UW9	OTTHUMG00000162594	ENST00000324432.5:c.1326C>A	7.37:g.76131710C>A			Q6XM87|Q6XM88|Q96H69|Q9H890|Q9P200	Silent	SNP	pfam_WWE-dom,smart_WWE-dom_subgr,smart_Znf_RING,pfscan_WWE-dom,pfscan_Znf_RING	p.L442	ENST00000324432.5	37	c.1326	CCDS5587.1	7																																																																																			DTX2	-	smart_Znf_RING,pfscan_Znf_RING	ENSG00000091073		0.622	DTX2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DTX2	HGNC	protein_coding	OTTHUMT00000253104.2	-	0.00	112	0	C			76131710	+1	tier1	-	no_errors	ENST00000324432	ensembl	human	known	74_37	silent	5.26	72	4	SNP	0.034	A
DYNC1H1	1778	genome.wustl.edu	37	14	102502930	102502930	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr14:102502930G>T	ENST00000360184.4	+	57	11023	c.10859G>T	c.(10858-10860)aGa>aTa	p.R3620I	DYNC1H1_ENST00000556791.1_3'UTR|RP11-1017G21.4_ENST00000557551.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3620	AAA 5. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GACGCCTTCAGAAAGAACTTA	0.468																																																	0													150.0	131.0	137.0					14																	102502930		2203	4300	6503	SO:0001583	missense	0			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.10859G>T	14.37:g.102502930G>T	ENSP00000348965:p.Arg3620Ile		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase	p.R3620I	ENST00000360184.4	37	c.10859	CCDS9966.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.26|16.26	3.071963|3.071963	0.55646|0.55646	.|.	.|.	ENSG00000197102|ENSG00000197102	ENST00000553423|ENST00000360184	.|T	.|0.19938	.|2.11	5.83|5.83	5.83|5.83	0.93111|0.93111	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.35219|0.35219	0.0924|0.0924	L|L	0.28115|0.28115	0.83|0.83	0.80722|0.80722	D|D	1|1	.|D	.|0.76494	.|0.999	.|D	.|0.71184	.|0.972	T|T	0.01945|0.01945	-1.1242|-1.1242	5|10	.|0.32370	.|T	.|0.25	.|.	20.1184|20.1184	0.97949|0.97949	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|3620	.|Q14204	.|DYHC1_HUMAN	H|I	95|3620	.|ENSP00000348965:R3620I	.|ENSP00000348965:R3620I	Q|R	+|+	3|2	2|0	DYNC1H1|DYNC1H1	101572683|101572683	1.000000|1.000000	0.71417|0.71417	0.555000|0.555000	0.28281|0.28281	0.973000|0.973000	0.67179|0.67179	9.869000|9.869000	0.99810|0.99810	2.769000|2.769000	0.95229|0.95229	0.655000|0.655000	0.94253|0.94253	CAG|AGA	DYNC1H1	-	NULL	ENSG00000197102		0.468	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC1H1	HGNC	protein_coding	OTTHUMT00000414574.1		0.00	49	0	G	NM_001376		102502930	+1			no_errors	ENST00000360184	ensembl	human	known	74_37	missense	5.00	57	3	SNP	0.996	T
DZANK1	55184	genome.wustl.edu	37	20	18393405	18393405	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr20:18393405G>T	ENST00000358866.6	-	12	1339	c.1317C>A	c.(1315-1317)ttC>ttA	p.F439L	DZANK1_ENST00000262547.5_Missense_Mutation_p.F439L|DZANK1_ENST00000329494.5_Missense_Mutation_p.F441L|DZANK1_ENST00000357236.4_Missense_Mutation_p.F325L|DZANK1_ENST00000487128.1_5'UTR			Q9NVP4	DZAN1_HUMAN	double zinc ribbon and ankyrin repeat domains 1	439							zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(10)	19						CAGATGGGTAGAAGAGGCCAA	0.512																																																	0													179.0	168.0	171.0					20																	18393405		1931	4132	6063	SO:0001583	missense	0			AK001462	CCDS46582.1	20p11.23	2013-01-11	2011-10-03	2011-10-03	ENSG00000089091	ENSG00000089091		"""Ankyrin repeat domain containing"""	15858	protein-coding gene	gene with protein product	"""ankyrin repeat domain 64"""		"""chromosome 20 open reading frame 12"""	C20orf84, C20orf12			Standard	NM_001099407		Approved	FLJ10600, dJ568F9.2, FLJ30892, bA189K21.8, ANKRD64	uc002wqq.4	Q9NVP4	OTTHUMG00000031968	ENST00000358866.6:c.1317C>A	20.37:g.18393405G>T	ENSP00000351734:p.Phe439Leu		B7ZLZ4|Q4F7X1|Q5QPD9|Q5QPE0|Q68DN8|Q6ZMX9|Q96NF0|Q9H1E0|Q9H442	Missense_Mutation	SNP	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom	p.F439L	ENST00000358866.6	37	c.1317	CCDS46582.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.43|19.43	3.826846|3.826846	0.71143|0.71143	.|.	.|.	ENSG00000089091|ENSG00000089091	ENST00000377630;ENST00000262547;ENST00000329494;ENST00000414623;ENST00000377637;ENST00000357236|ENST00000358866	T;T;T;T|.	0.78816|.	-1.21;-0.92;-0.24;-0.82|.	5.51|5.51	2.18|2.18	0.27775|0.27775	.|.	0.143965|.	0.64402|.	D|.	0.000006|.	T|T	0.71195|0.71195	0.3311|0.3311	M|M	0.81341|0.81341	2.54|2.54	0.42947|0.42947	D|D	0.994362|0.994362	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;0.998|.	D;D;D;D|.	0.91635|.	0.997;0.999;0.992;0.962|.	T|T	0.70547|0.70547	-0.4842|-0.4842	10|5	0.87932|.	D|.	0|.	-19.4079|-19.4079	9.2005|9.2005	0.37256|0.37256	0.3459:0.0:0.6541:0.0|0.3459:0.0:0.6541:0.0	.|.	458;325;439;224|.	B7Z631;Q9NVP4-4;Q9NVP4;A6NKD0|.	.;.;DZAN1_HUMAN;.|.	L|Y	272;439;441;271;224;325|238	ENSP00000366857:F272L;ENSP00000262547:F439L;ENSP00000328866:F441L;ENSP00000349774:F325L|.	ENSP00000262547:F439L|.	F|S	-|-	3|2	2|0	C20orf12|C20orf12	18341405|18341405	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.627000|0.627000	0.37826|0.37826	1.389000|1.389000	0.34453|0.34453	0.703000|0.703000	0.31848|0.31848	-0.143000|-0.143000	0.13931|0.13931	TTC|TCT	DZANK1	-	NULL	ENSG00000089091		0.512	DZANK1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	DZANK1	HGNC	protein_coding	OTTHUMT00000471926.1		0.00	68	0	G	NM_001099407		18393405	-1			no_errors	ENST00000262547	ensembl	human	known	74_37	missense	5.06	75	4	SNP	1.000	T
ECEL1	9427	genome.wustl.edu	37	2	233348784	233348784	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr2:233348784G>T	ENST00000304546.1	-	7	1544	c.1334C>A	c.(1333-1335)gCc>gAc	p.A445D	ECEL1_ENST00000409941.1_Missense_Mutation_p.A445D	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	445					neuropeptide signaling pathway (GO:0007218)|respiratory system process (GO:0003016)	integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		GTGGCGATTGGCCTGGCCCAA	0.622																																																	0													76.0	80.0	79.0					2																	233348784		2203	4300	6503	SO:0001583	missense	0			Y16187	CCDS2493.1	2q37.1	2010-09-29			ENSG00000171551	ENSG00000171551			3147	protein-coding gene	gene with protein product	"""damage induced neuronal endopeptidase"""	605896				9931490, 11352565	Standard	NM_004826		Approved	XCE, DINE	uc002vsv.2	O95672	OTTHUMG00000133262	ENST00000304546.1:c.1334C>A	2.37:g.233348784G>T	ENSP00000302051:p.Ala445Asp		Q45UD9|Q53RF9|Q6UW86|Q86TH4|Q9NY95	Missense_Mutation	SNP	pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C	p.A445D	ENST00000304546.1	37	c.1334	CCDS2493.1	2	.	.	.	.	.	.	.	.	.	.	G	26.8	4.771640	0.90108	.	.	ENSG00000171551	ENST00000304546;ENST00000409941	T;T	0.74526	-0.85;-0.85	5.33	5.33	0.75918	Peptidase M13 (1);Metallopeptidase, catalytic domain (1);	0.061073	0.64402	D	0.000002	D	0.83115	0.5184	L	0.55481	1.735	0.80722	D	1	D;D	0.63046	0.966;0.992	P;D	0.63283	0.571;0.913	D	0.84714	0.0736	10	0.87932	D	0	-0.9223	19.0163	0.92896	0.0:0.0:1.0:0.0	.	445;445	O95672-2;O95672	.;ECEL1_HUMAN	D	445	ENSP00000302051:A445D;ENSP00000386333:A445D	ENSP00000302051:A445D	A	-	2	0	ECEL1	233057028	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	8.005000	0.88553	2.503000	0.84419	0.557000	0.71058	GCC	ECEL1	-	pfam_Peptidase_M13_N	ENSG00000171551		0.622	ECEL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ECEL1	HGNC	protein_coding	OTTHUMT00000257039.2		0.00	83	0	G	NM_004826		233348784	-1			no_errors	ENST00000304546	ensembl	human	known	74_37	missense	5.10	93	5	SNP	1.000	T
EGFEM1P	93556	genome.wustl.edu	37	3	168530404	168530404	+	RNA	SNP	G	G	T			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr3:168530404G>T	ENST00000483846.1	+	0	547					NR_021485.2		Q0D2K5	EGFEM_HUMAN	EGF-like and EMI domain containing 1, pseudogene																		CATAAATAATGCTTATGAAGT	0.308																																																	0																																												0			AF086185		3q26.2	2010-09-24	2010-09-24	2010-09-24	ENSG00000206120	ENSG00000206120			25149	pseudogene	pseudogene			"""chromosome 3 open reading frame 50"", ""non-protein coding RNA 259"""	C3orf50, NCRNA00259		12477932	Standard	NR_021485		Approved		uc003ffh.4	Q0D2K5	OTTHUMG00000154721		3.37:g.168530404G>T				RNA	SNP	-	NULL	ENST00000483846.1	37	NULL		3																																																																																			EGFEM1P	-	-	ENSG00000206120		0.308	EGFEM1P-007	KNOWN	basic	processed_transcript	EGFEM1P	HGNC	pseudogene	OTTHUMT00000351389.1	-	0.00	11	0	G	NR_021485		168530404	+1	tier1	-	no_errors	ENST00000482245	ensembl	human	known	74_37	rna	55.00	9	11	SNP	0.000	T
EML1	2009	genome.wustl.edu	37	14	100380522	100380522	+	Nonsense_Mutation	SNP	G	G	T			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr14:100380522G>T	ENST00000262233.6	+	14	1640	c.1501G>T	c.(1501-1503)Gaa>Taa	p.E501*	EML1_ENST00000334192.4_Nonsense_Mutation_p.E520*|EML1_ENST00000327921.9_Nonsense_Mutation_p.E489*	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	501	Tandem atypical propeller in EMLs.				brain development (GO:0007420)|hematopoietic progenitor cell differentiation (GO:0002244)|microtubule cytoskeleton organization (GO:0000226)|mitotic spindle organization (GO:0007052)|neuroblast proliferation (GO:0007405)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	calcium ion binding (GO:0005509)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				GCAGATTCCAGAACAGTTTGG	0.423																																																	0													110.0	99.0	102.0					14																	100380522		2203	4300	6503	SO:0001587	stop_gained	0			AK023861	CCDS32154.1, CCDS32155.1	14q32	2013-01-10		2002-02-15		ENSG00000066629		"""WD repeat domain containing"""	3330	protein-coding gene	gene with protein product		602033		EMAPL		9226380, 10521658	Standard	XM_005267397		Approved	EMAP, HuEMAP, ELP79	uc001ygr.3	O00423		ENST00000262233.6:c.1501G>T	14.37:g.100380522G>T	ENSP00000262233:p.Glu501*		Q86U15|Q8N536|Q8N5C4|Q8WWL6	Nonsense_Mutation	SNP	pfam_HELP,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E520*	ENST00000262233.6	37	c.1558	CCDS32155.1	14	.	.	.	.	.	.	.	.	.	.	G	47	13.229655	0.99728	.	.	ENSG00000066629	ENST00000327921;ENST00000262233;ENST00000334192;ENST00000542138	.	.	.	5.04	5.04	0.67666	.	0.047681	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-30.6283	18.3908	0.90483	0.0:0.0:1.0:0.0	.	.	.	.	X	489;501;520;520	.	ENSP00000262233:E501X	E	+	1	0	EML1	99450275	1.000000	0.71417	1.000000	0.80357	0.267000	0.26476	7.851000	0.86920	2.343000	0.79666	0.585000	0.79938	GAA	EML1	-	superfamily_Quinonprotein_ADH-like_supfam,pfscan_WD40_repeat_dom	ENSG00000066629		0.423	EML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EML1	HGNC	protein_coding	OTTHUMT00000413943.1	-	0.00	72	0	G	NM_001008707		100380522	+1	tier1	-	no_errors	ENST00000334192	ensembl	human	known	74_37	nonsense	5.13	74	4	SNP	1.000	T
EMR3	84658	genome.wustl.edu	37	19	14762000	14762000	+	Silent	SNP	C	C	A	rs112595913	byFrequency	TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr19:14762000C>A	ENST00000253673.5	-	7	694	c.594G>T	c.(592-594)gcG>gcT	p.A198A	EMR3_ENST00000443157.2_Silent_p.A72A|EMR3_ENST00000599900.1_5'UTR|EMR3_ENST00000344373.4_Silent_p.A146A	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	198					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.A198A(1)		NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						TGTCTGTAATCGCTTGAGTTT	0.408																																																	1	Substitution - coding silent(1)	upper_aerodigestive_tract(1)											192.0	161.0	171.0					19																	14762000		2203	4300	6503	SO:0001819	synonymous_variant	0			AF239764	CCDS12315.1, CCDS74296.1, CCDS74297.1	19p13.1	2014-08-08				ENSG00000131355		"""-"", ""GPCR / Class B : Orphans"""	23647	protein-coding gene	gene with protein product		606101				11279179, 12975309	Standard	XM_005260118		Approved		uc002mzi.4	Q9BY15		ENST00000253673.5:c.594G>T	19.37:g.14762000C>A				Silent	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_EMR1_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_CD97	p.A198	ENST00000253673.5	37	c.594	CCDS12315.1	19																																																																																			EMR3	-	NULL	ENSG00000131355		0.408	EMR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EMR3	HGNC	protein_coding	OTTHUMT00000466488.1		0.00	22	0	C	NM_032571		14762000	-1			no_errors	ENST00000253673	ensembl	human	known	74_37	silent	9.52	38	4	SNP	0.366	A
ENDOU	8909	genome.wustl.edu	37	12	48111404	48111404	+	Silent	SNP	G	G	T			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr12:48111404G>T	ENST00000422538.3	-	4	401	c.279C>A	c.(277-279)cgC>cgA	p.R93R	RP1-197B17.3_ENST00000547799.1_lincRNA|ENDOU_ENST00000542202.1_De_novo_Start_OutOfFrame|ENDOU_ENST00000229003.3_Silent_p.R52R|ENDOU_ENST00000545824.2_Silent_p.R30R	NM_001172439.1	NP_001165910.1	P21128	ENDOU_HUMAN	endonuclease, polyU-specific	93	SMB 2. {ECO:0000255|PROSITE- ProRule:PRU00350}.				female pregnancy (GO:0007565)|immune response (GO:0006955)|proteolysis (GO:0006508)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	endoribonuclease activity (GO:0004521)|growth factor activity (GO:0008083)|manganese ion binding (GO:0030145)|polysaccharide binding (GO:0030247)|RNA binding (GO:0003723)|scavenger receptor activity (GO:0005044)|serine-type peptidase activity (GO:0008236)			autonomic_ganglia(1)|endometrium(2)|large_intestine(4)|lung(2)|ovary(3)|pancreas(1)|stomach(1)	14						CTTCGTAGCAGCGGCCCTGGC	0.587											OREG0021752	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													122.0	123.0	122.0					12																	48111404		2203	4300	6503	SO:0001819	synonymous_variant	0			M32402	CCDS8754.1, CCDS53784.1, CCDS53785.1	12q13.1	2011-08-31			ENSG00000111405	ENSG00000111405		"""Serine peptidases / Serine peptidases"""	14369	protein-coding gene	gene with protein product		606720				2350438, 1710108, 15755742, 18936097	Standard	NM_006025		Approved	PP11, P11, PRSS26	uc001rpu.2	P21128	OTTHUMG00000169670	ENST00000422538.3:c.279C>A	12.37:g.48111404G>T		952	B2RBJ3|B3KQS7|B7Z6E1|Q2NKJ4	Silent	SNP	pfam_Endoribonuclease_XendoU,pfam_Somatomedin_B_dom,smart_Somatomedin_B_dom,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata	p.R52	ENST00000422538.3	37	c.156	CCDS53785.1	12																																																																																			ENDOU	-	pfam_Somatomedin_B_dom,smart_Somatomedin_B_dom,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata	ENSG00000111405		0.587	ENDOU-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	ENDOU	HGNC	protein_coding	OTTHUMT00000405352.1	-	0.00	58	0	G	NM_006025.2		48111404	-1	tier1	-	no_errors	ENST00000229003	ensembl	human	known	74_37	silent	5.80	65	4	SNP	1.000	T
YEATS2	55689	genome.wustl.edu	37	3	183520323	183520324	+	Intron	INS	-	-	TA	rs11276625|rs74710373	byFrequency	TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr3:183520323_183520324insTA	ENST00000305135.5	+	26	3697				AC131160.1_ENST00000401347.1_RNA	NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2						chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|mitotic spindle (GO:0072686)	TBP-class protein binding (GO:0017025)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			atatacacgtgtatatacacac	0.332														2148	0.428914	0.2602	0.4568	5008	,	,		21295	0.5228		0.4642	False		,,,				2504	0.5041																0																																										SO:0001627	intron_variant	0			AB033023	CCDS43175.1	3q27.3	2004-08-18			ENSG00000163872	ENSG00000163872			25489	protein-coding gene	gene with protein product		613373				10574462	Standard	NM_018023		Approved	FLJ10201, FLJ12841, FLJ13308, KIAA1197	uc003fly.2	Q9ULM3	OTTHUMG00000156898	ENST00000305135.5:c.3503-720->TA	3.37:g.183520328_183520329dupTA			A7E2B9|D3DNS9|Q641P6|Q9NW96	RNA	INS	-	NULL	ENST00000305135.5	37	NULL	CCDS43175.1	3																																																																																			AC131160.1	-	-	ENSG00000216166		0.332	YEATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000216166	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000346507.2		0.00	12	0	-	NM_018023		183520324	-1	tier1		no_errors	ENST00000401347	ensembl	human	novel	74_37	rna	29.63	19	8	INS	0.000:0.000	TA
RP11-782C8.2	0	genome.wustl.edu	37	1	143189128	143189128	+	lincRNA	SNP	G	G	A	rs202058739		TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr1:143189128G>A	ENST00000412204.2	-	0	2503				RP11-782C8.3_ENST00000425124.1_lincRNA|RP11-782C8.1_ENST00000438000.1_lincRNA																							TGACTTGGTTGTTTAAACAGC	0.333																																																	0																																												0																															1.37:g.143189128G>A				RNA	SNP	-	NULL	ENST00000412204.2	37	NULL		1																																																																																			RP11-782C8.2	-	-	ENSG00000232274		0.333	RP11-782C8.2-004	KNOWN	basic	lincRNA	ENSG00000232274	Clone_based_vega_gene	lincRNA	OTTHUMT00000037567.2	-	0.00	13	0	G			143189128	-1	tier1	rs202058739	no_errors	ENST00000447389	ensembl	human	known	74_37	rna	28.57	25	10	SNP	0.005	A
LOC730338	730338	genome.wustl.edu	37	7	46728937	46728937	+	3'UTR	SNP	T	T	G	rs1404727	byFrequency	TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr7:46728937T>G	ENST00000451905.1	-	0	486				AC011294.3_ENST00000469937.1_5'UTR																							GCAAAATCTCTTGTACTTTTG	0.443																																																	0																																										SO:0001624	3_prime_UTR_variant	0																														ENST00000451905.1:c.*61A>C	7.37:g.46728937T>G				RNA	SNP	-	NULL	ENST00000451905.1	37	NULL		7																																																																																			AC011294.3	-	-	ENSG00000233539		0.443	AC011294.3-003	PUTATIVE	basic|appris_principal	protein_coding	ENSG00000233539	Clone_based_vega_gene	protein_coding	OTTHUMT00000340262.1	-	0.00	16	0	T			46728937	-1	tier1	-	no_errors	ENST00000469937	ensembl	human	known	74_37	rna	44.83	16	13	SNP	0.002	G
RP3-470B24.5	0	genome.wustl.edu	37	6	168377223	168377224	+	lincRNA	INS	-	-	A			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr6:168377223_168377224insA	ENST00000538528.1	-	0	395_396																											AGTGTGTTGGGAGGAGAAGACA	0.619																																																	0																																												0																															6.37:g.168377224_168377224dupA				RNA	INS	-	NULL	ENST00000538528.1	37	NULL		6																																																																																			RP3-470B24.5	-	-	ENSG00000235994		0.619	RP3-470B24.5-201	KNOWN	basic	lincRNA	ENSG00000235994	Clone_based_vega_gene	lincRNA			0.00	165	0	0			168377224	-1			no_errors	ENST00000538528	ensembl	human	known	74_37	rna	7.48	99	8	INS	0.633:0.622	A
GBP5	115362	genome.wustl.edu	37	1	89726351	89726351	+	3'UTR	SNP	A	A	G			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr1:89726351A>G	ENST00000370459.3	-	0	1924				GBP5_ENST00000343435.5_3'UTR|RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000471171.1_5'UTR			Q96PP8	GBP5_HUMAN	guanylate binding protein 5							cytoplasm (GO:0005737)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		CATCAGTGACAAAGAGTAAAA	0.333																																																	0													105.0	104.0	104.0					1																	89726351		2203	4300	6503	SO:0001624	3_prime_UTR_variant	0			AF430642	CCDS722.1	1p22.2	2008-02-05			ENSG00000154451	ENSG00000154451			19895	protein-coding gene	gene with protein product		611467					Standard	NM_052942		Approved		uc001dnd.3	Q96PP8	OTTHUMG00000010006	ENST00000370459.3:c.*36T>C	1.37:g.89726351A>G			B2RCE1|Q86TM5	RNA	SNP	-	NULL	ENST00000370459.3	37	NULL	CCDS722.1	1																																																																																			RP4-620F22.2	-	-	ENSG00000237568		0.333	GBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000237568	Clone_based_vega_gene	protein_coding	OTTHUMT00000027700.1	-	0.00	44	0	A	NM_052942		89726351	+1	tier1	-	no_errors	ENST00000437128	ensembl	human	known	74_37	rna	7.87	117	10	SNP	0.000	G
FAM138D	677784	genome.wustl.edu	37	12	68701	68701	+	lincRNA	SNP	G	G	A			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr12:68701G>A	ENST00000546223.1	+	0	821																											TTGTGGTCTTGTCTATTCCCA	0.537																																																	0																																												0																															12.37:g.68701G>A				RNA	SNP	-	NULL	ENST00000546223.1	37	NULL		12																																																																																			RP11-598F7.1	-	-	ENSG00000249054		0.537	RP11-598F7.1-002	KNOWN	basic	lincRNA	ENSG00000249054	Clone_based_vega_gene	lincRNA	OTTHUMT00000397511.1	-	0.00	76	0	G			68701	+1	tier1	-	no_errors	ENST00000504074	ensembl	human	known	74_37	rna	21.37	103	28	SNP	0.000	A
MGAM2	93432	genome.wustl.edu	37	7	141897528	141897528	+	Splice_Site	SNP	T	T	C			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr7:141897528T>C	ENST00000477922.3	+	42	4920	c.4866T>C	c.(4864-4866)acT>acC	p.T1622T																	endometrium(1)|lung(5)	6						TGTTGGAAACTGTGAGTTCTT	0.373																																																	0																																										SO:0001630	splice_region_variant	0																														ENST00000477922.3:c.4866+1T>C	7.37:g.141897528T>C				Silent	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,superfamily_P_trefoil,smart_P_trefoil	p.T1622	ENST00000477922.3	37	c.4866		7																																																																																			RP11-1220K2.2	-	pfam_Glyco_hydro_31	ENSG00000257743		0.373	RP11-1220K2.2-003	PUTATIVE	not_best_in_genome_evidence|basic|appris_principal|exp_conf	protein_coding	ENSG00000257743	Clone_based_vega_gene	protein_coding	OTTHUMT00000351325.3	-	0.00	37	0	T		Silent	141897528	+1	tier1	-	no_errors	ENST00000477922	ensembl	human	putative	74_37	silent	10.26	35	4	SNP	0.006	C
TIMP2	7077	genome.wustl.edu	37	17	76851731	76851731	+	3'UTR	SNP	G	G	T			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr17:76851731G>T	ENST00000262768.7	-	0	979				TIMP2_ENST00000585421.1_3'UTR|TIMP2_ENST00000586057.1_3'UTR|RP11-323N12.5_ENST00000587434.1_RNA|TIMP2_ENST00000536189.2_3'UTR	NM_003255.4	NP_003246.1	P16035	TIMP2_HUMAN	TIMP metallopeptidase inhibitor 2						aging (GO:0007568)|cellular response to organic substance (GO:0071310)|central nervous system development (GO:0007417)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of proteolysis (GO:0045861)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|regulation of Rap protein signal transduction (GO:0032487)|response to cytokine (GO:0034097)|response to drug (GO:0042493)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)	enzyme activator activity (GO:0008047)|metal ion binding (GO:0046872)|metalloendopeptidase inhibitor activity (GO:0008191)			central_nervous_system(2)	2			BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.194)			GTTGGCCACAGGGGCGTTGGA	0.577																																																	0													23.0	24.0	24.0					17																	76851731		2203	4300	6503	SO:0001624	3_prime_UTR_variant	0				CCDS11758.1	17q25	2008-07-18	2005-08-08		ENSG00000035862	ENSG00000035862			11821	protein-coding gene	gene with protein product		188825	"""tissue inhibitor of metalloproteinase 2"""			1427908	Standard	NM_003255		Approved	CSC-21K	uc002jwf.3	P16035	OTTHUMG00000154517	ENST00000262768.7:c.*18C>A	17.37:g.76851731G>T			Q16121|Q93006|Q9UDF7	RNA	SNP	-	NULL	ENST00000262768.7	37	NULL	CCDS11758.1	17																																																																																			RP11-323N12.5	-	-	ENSG00000267601		0.577	TIMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000267601	Clone_based_vega_gene	protein_coding	OTTHUMT00000335662.1	-	0.00	38	0	G	NM_003255		76851731	+1	tier1	-	no_errors	ENST00000587434	ensembl	human	known	74_37	rna	7.27	51	4	SNP	0.018	T
RP11-795H16.3	0	genome.wustl.edu	37	18	57792403	57792403	+	lincRNA	SNP	C	C	T			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr18:57792403C>T	ENST00000588794.1	+	0	139																											AGTTAACCACCATCGCCGGTG	0.428																																																	0																																												0																															18.37:g.57792403C>T				RNA	SNP	-	NULL	ENST00000588794.1	37	NULL		18																																																																																			RP11-795H16.3	-	-	ENSG00000267686		0.428	RP11-795H16.3-001	KNOWN	basic|exp_conf	lincRNA	ENSG00000267686	Clone_based_vega_gene	lincRNA	OTTHUMT00000449080.1	-	0.00	35	0	C			57792403	+1	tier1	-	no_errors	ENST00000588794	ensembl	human	known	74_37	rna	75.68	9	28	SNP	0.010	T
NLRP9	338321	genome.wustl.edu	37	19	56220430	56220431	+	Intron	INS	-	-	T			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr19:56220430_56220431insT	ENST00000332836.2	-	9	2871				CTD-2611O12.7_ENST00000597680.1_RNA|CTD-2611O12.6_ENST00000600582.1_RNA|CTD-2611O12.8_ENST00000596293.1_RNA	NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9							cytoplasm (GO:0005737)	ATP binding (GO:0005524)			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		TAGAAATAAAGTTTTTTTTTTT	0.366																																																	0																																										SO:0001627	intron_variant	0			AY154464	CCDS12934.1	19q13.43	2006-12-08	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22941	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 9"""	609663	"""NACHT, leucine rich repeat and PYD containing 9"""	NALP9		12563287	Standard	NM_176820		Approved	NOD6, PAN12, CLR19.1	uc002qly.3	Q7RTR0		ENST00000332836.2:c.2844-20->A	19.37:g.56220441_56220441dupT			B2RN12|Q86W27	RNA	INS	-	NULL	ENST00000332836.2	37	NULL	CCDS12934.1	19																																																																																			CTD-2611O12.8	-	-	ENSG00000267865		0.366	NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000267865	Clone_based_vega_gene	protein_coding	OTTHUMT00000453653.1		0.00	10	0	-	NM_176820		56220431	+1	tier1		no_errors	ENST00000596293	ensembl	human	known	74_37	rna	11.90	37	5	INS	0.000:0.000	T
ZNF862	643641	genome.wustl.edu	37	7	149556821	149556821	+	Intron	SNP	G	G	A			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr7:149556821G>A	ENST00000223210.4	+	6	1467				RP4-751H13.7_ENST00000608963.1_RNA|ZNF862_ENST00000478024.1_Intron	NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						ggaaaaaacaggtccttttgt	0.557																																																	0																																										SO:0001627	intron_variant	0			AB011115	CCDS47741.1	7q36.1	2013-01-11			ENSG00000106479	ENSG00000106479		"""Zinc fingers, C2H2-type"", ""-"""	34519	protein-coding gene	gene with protein product							Standard	NM_001099220		Approved		uc010lpn.3	O60290	OTTHUMG00000158093	ENST00000223210.4:c.1222+206G>A	7.37:g.149556821G>A			A0AUL8	RNA	SNP	-	NULL	ENST00000223210.4	37	NULL	CCDS47741.1	7																																																																																			RP4-751H13.7	-	-	ENSG00000273419		0.557	ZNF862-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000273419	Clone_based_vega_gene	protein_coding	OTTHUMT00000350165.1	-	0.00	12	0	G	NM_001099220		149556821	-1	tier1	-	no_errors	ENST00000608963	ensembl	human	known	74_37	rna	85.71	1	6	SNP	0.001	A
ENTPD4	9583	genome.wustl.edu	37	8	23290462	23290462	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr8:23290462G>T	ENST00000358689.4	-	13	2063	c.1828C>A	c.(1828-1830)Cag>Aag	p.Q610K	ENTPD4_ENST00000417069.2_Missense_Mutation_p.Q602K|ENTPD4_ENST00000521321.1_Intron|ENTPD4_ENST00000356206.6_Intron	NM_001128930.2|NM_004901.4	NP_001122402.1|NP_004892.1	Q9Y227	ENTP4_HUMAN	ectonucleoside triphosphate diphosphohydrolase 4	610					UDP catabolic process (GO:0006256)	cytoplasmic vesicle (GO:0031410)|integral component of Golgi membrane (GO:0030173)|intracellular membrane-bounded organelle (GO:0043231)	uridine-diphosphatase activity (GO:0045134)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	25		Prostate(55;0.114)		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)		GGGGCATTCTGGGCGGGAAGG	0.617																																																	0													23.0	26.0	25.0					8																	23290462		2196	4288	6484	SO:0001583	missense	0			AJ131358	CCDS6041.1, CCDS47827.1	8p21.3	2014-05-16	2004-09-22	2004-09-22	ENSG00000197217	ENSG00000197217			14573	protein-coding gene	gene with protein product		607577	"""lysosomal apyrase-like 1"""	LYSAL1		10393803, 9205841	Standard	NM_001128930		Approved	LALP70, LAP70, KIAA0392, NTPDase-4, UDPase	uc003xdl.3	Q9Y227	OTTHUMG00000097852	ENST00000358689.4:c.1828C>A	8.37:g.23290462G>T	ENSP00000351520:p.Gln610Lys		D3DSS3|O15092	Missense_Mutation	SNP	pfam_GDA1_CD39_NTPase	p.Q610K	ENST00000358689.4	37	c.1828	CCDS6041.1	8	.	.	.	.	.	.	.	.	.	.	G	14.89	2.671756	0.47781	.	.	ENSG00000197217	ENST00000358689;ENST00000417069	T;T	0.13420	2.59;2.59	5.68	5.68	0.88126	.	0.351638	0.33364	N	0.004981	T	0.14056	0.0340	L	0.51422	1.61	0.45852	D	0.998712	B;B	0.20887	0.039;0.049	B;B	0.20955	0.032;0.031	T	0.08126	-1.0737	10	0.02654	T	1	-19.1638	18.3625	0.90379	0.0:0.0:1.0:0.0	.	602;610	Q9Y227-2;Q9Y227	.;ENTP4_HUMAN	K	610;602	ENSP00000351520:Q610K;ENSP00000408573:Q602K	ENSP00000351520:Q610K	Q	-	1	0	ENTPD4	23346407	1.000000	0.71417	0.997000	0.53966	0.023000	0.10783	8.551000	0.90678	2.687000	0.91594	0.563000	0.77884	CAG	ENTPD4	-	NULL	ENSG00000197217		0.617	ENTPD4-001	KNOWN	basic|CCDS	protein_coding	ENTPD4	HGNC	protein_coding	OTTHUMT00000215142.1	-	0.00	88	0	G	NM_004901		23290462	-1	tier1	-	no_errors	ENST00000358689	ensembl	human	known	74_37	missense	6.15	61	4	SNP	1.000	T
EPB41L2	2037	genome.wustl.edu	37	6	131247763	131247763	+	Missense_Mutation	SNP	C	C	A			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr6:131247763C>A	ENST00000337057.3	-	4	973	c.792G>T	c.(790-792)caG>caT	p.Q264H	EPB41L2_ENST00000530481.1_Missense_Mutation_p.Q264H|EPB41L2_ENST00000527659.1_Missense_Mutation_p.Q264H|EPB41L2_ENST00000368128.2_Missense_Mutation_p.Q264H|EPB41L2_ENST00000445890.2_Missense_Mutation_p.Q264H|EPB41L2_ENST00000530148.1_5'UTR|EPB41L2_ENST00000525193.1_Missense_Mutation_p.Q264H|EPB41L2_ENST00000529208.1_Missense_Mutation_p.Q264H|EPB41L2_ENST00000392427.3_Missense_Mutation_p.Q264H|EPB41L2_ENST00000528282.1_Missense_Mutation_p.Q264H|EPB41L2_ENST00000525271.1_Missense_Mutation_p.Q264H|EPB41L2_ENST00000527411.1_Missense_Mutation_p.Q264H	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	264	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cortical actin cytoskeleton organization (GO:0030866)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|spectrin (GO:0008091)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		CAGGGCTTTCCTGAAACAAAA	0.308																																																	0													114.0	112.0	113.0					6																	131247763		2203	4300	6503	SO:0001583	missense	0			AF027299	CCDS5141.1, CCDS47474.1, CCDS56450.1, CCDS59037.1	6q23	2008-08-29			ENSG00000079819	ENSG00000079819			3379	protein-coding gene	gene with protein product		603237				9598318, 9828140	Standard	NM_001431		Approved	4.1-G	uc003qch.2	O43491	OTTHUMG00000015560	ENST00000337057.3:c.792G>T	6.37:g.131247763C>A	ENSP00000338481:p.Gln264His		B4DHI8|E9PPD9|Q5T4F0|Q68DV2	Missense_Mutation	SNP	pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB_dom,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like,pfscan_FERM_domain	p.Q264H	ENST00000337057.3	37	c.792	CCDS5141.1	6	.	.	.	.	.	.	.	.	.	.	C	4.212	0.038041	0.08148	.	.	ENSG00000079819	ENST00000528282;ENST00000530481;ENST00000445890;ENST00000337057;ENST00000392427;ENST00000425439;ENST00000368128;ENST00000527411;ENST00000525271;ENST00000525193;ENST00000527659;ENST00000529208	T;T;T;T;T;T;T;T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07;-1.07;-1.07;-1.07;-1.07;-1.07;-1.07;-1.07	5.17	1.92	0.25849	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);	0.786268	0.12000	N	0.508920	T	0.68906	0.3052	M	0.62154	1.92	0.35808	D	0.823643	P;P;P;D;P	0.52996	0.863;0.655;0.772;0.957;0.655	P;B;P;P;B	0.61533	0.546;0.34;0.459;0.89;0.254	T	0.65689	-0.6107	10	0.15499	T	0.54	.	2.3472	0.04274	0.3942:0.2764:0.0:0.3294	.	264;264;264;264;264	E9PHY5;B4DHI8;E9PPD9;O43491;Q68DV2	.;.;.;E41L2_HUMAN;.	H	264	ENSP00000434308:Q264H;ENSP00000434576:Q264H;ENSP00000402041:Q264H;ENSP00000338481:Q264H;ENSP00000376222:Q264H;ENSP00000357110:Q264H;ENSP00000436348:Q264H;ENSP00000432803:Q264H;ENSP00000431988:Q264H;ENSP00000431647:Q264H;ENSP00000436641:Q264H	ENSP00000338481:Q264H	Q	-	3	2	EPB41L2	131289456	1.000000	0.71417	0.997000	0.53966	0.009000	0.06853	1.139000	0.31504	0.566000	0.29273	-0.314000	0.08810	CAG	EPB41L2	-	pirsf_Band_41_protein,pfam_FERM_N,smart_Band_41_domain,pfscan_FERM_domain	ENSG00000079819		0.308	EPB41L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPB41L2	HGNC	protein_coding	OTTHUMT00000042204.3	-	0.00	55	0	C			131247763	-1	tier1	-	no_errors	ENST00000337057	ensembl	human	known	74_37	missense	6.25	60	4	SNP	1.000	A
EPGN	255324	genome.wustl.edu	37	4	75178008	75178008	+	Missense_Mutation	SNP	G	G	C			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr4:75178008G>C	ENST00000413830.1	+	3	301	c.240G>C	c.(238-240)gaG>gaC	p.E80D	EPGN_ENST00000502358.1_Missense_Mutation_p.E80D|EPGN_ENST00000514968.1_Missense_Mutation_p.E71D|EPGN_ENST00000503098.1_Missense_Mutation_p.E80D|EPGN_ENST00000332112.4_Missense_Mutation_p.E71D|EPGN_ENST00000509145.1_Missense_Mutation_p.E50D|EPGN_ENST00000505212.1_Missense_Mutation_p.E71D	NM_001270989.1	NP_001257918.1	Q6UW88	EPGN_HUMAN	epithelial mitogen	80	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|MAP kinase kinase activity (GO:0004708)			breast(3)|liver(1)|lung(1)|skin(1)	6			Lung(101;0.196)			ATGAGCTAGAGAAAGCCATCT	0.418																																																	0													159.0	146.0	150.0					4																	75178008		2203	4300	6503	SO:0001583	missense	0				CCDS59475.1, CCDS59476.1, CCDS59477.1, CCDS59478.1, CCDS59479.1	4q13.3	2012-12-07	2012-12-07						17470	protein-coding gene	gene with protein product			"""epithelial mitogen homolog (mouse)"""				Standard	NM_001270989		Approved	epigen, EPG, PRO9904, ALGV3072	uc003hic.2	Q6UW88		ENST00000413830.1:c.240G>C	4.37:g.75178008G>C	ENSP00000411898:p.Glu80Asp		A1BMM3|A1BMM4|A1BMM5|A1BMM6|A1BMM7|A1BMM8|A8K090	Missense_Mutation	SNP	pfscan_EG-like_dom	p.E80D	ENST00000413830.1	37	c.240	CCDS59478.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.34|10.34	1.323548|1.323548	0.24080|0.24080	.|.	.|.	ENSG00000182585|ENSG00000182585	ENST00000413830;ENST00000332112;ENST00000514968;ENST00000503098;ENST00000502358;ENST00000509145;ENST00000505212|ENST00000446430	T;T;T;T;T;T;T|T	0.41400|0.13538	2.56;2.56;2.56;2.56;1.0;1.0;1.0|2.58	5.63|5.63	2.89|2.89	0.33648|0.33648	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);|.	0.600408|0.600408	0.17611|0.17611	N|N	0.168081|0.168081	T|T	0.07728|0.07728	0.0194|0.0194	N|N	0.17474|0.17474	0.49|0.49	0.23669|0.23669	N|N	0.997155|0.997155	B;B;B;B;B;B;B|.	0.17268|.	0.001;0.007;0.013;0.021;0.001;0.01;0.001|.	B;B;B;B;B;B;B|.	0.15484|.	0.003;0.006;0.009;0.013;0.003;0.009;0.003|.	T|T	0.40701|0.40701	-0.9549|-0.9549	10|8	0.10111|0.13853	T|T	0.7|0.58	-3.043|-3.043	7.9111|7.9111	0.29791|0.29791	0.0836:0.3092:0.6072:0.0|0.0836:0.3092:0.6072:0.0	.|.	50;80;80;71;80;71;71|.	Q6UW88-7;Q6UW88;Q6UW88-3;Q6UW88-5;Q6UW88-4;Q6UW88-6;Q6UW88-2|.	.;EPGN_HUMAN;.;.;.;.;.|.	D|Q	80;71;71;80;80;50;71|56	ENSP00000411898:E80D;ENSP00000330375:E71D;ENSP00000426550:E71D;ENSP00000425890:E80D;ENSP00000426678:E80D;ENSP00000426630:E50D;ENSP00000424392:E71D|ENSP00000398415:E56Q	ENSP00000330375:E71D|ENSP00000398415:E56Q	E|E	+|+	3|1	2|0	EPGN|EPGN	75396872|75396872	1.000000|1.000000	0.71417|0.71417	0.977000|0.977000	0.42913|0.42913	0.667000|0.667000	0.39255|0.39255	0.655000|0.655000	0.24933|0.24933	0.369000|0.369000	0.24510|0.24510	-0.176000|-0.176000	0.13171|0.13171	GAG|GAA	EPGN	-	pfscan_EG-like_dom	ENSG00000182585		0.418	EPGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPGN	HGNC	protein_coding	OTTHUMT00000362738.1	-	0.00	37	0	G	NM_001013442		75178008	+1	tier1	-	no_errors	ENST00000413830	ensembl	human	known	74_37	missense	69.57	14	32	SNP	0.995	C
EPHB1	2047	genome.wustl.edu	37	3	134884809	134884809	+	Splice_Site	SNP	G	G	T			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr3:134884809G>T	ENST00000398015.3	+	8	1955		c.e8-1		EPHB1_ENST00000493838.1_Splice_Site	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1						angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						TTCTCACCTAGATGATTACAA	0.488																																																	0													112.0	125.0	121.0					3																	134884809		2094	4235	6329	SO:0001630	splice_region_variant	0			L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3392	protein-coding gene	gene with protein product		600600	"""EphB1"""	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.1586-1G>T	3.37:g.134884809G>T			A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Splice_Site	SNP	-	e8-1	ENST00000398015.3	37	c.1586-1	CCDS46921.1	3	.	.	.	.	.	.	.	.	.	.	G	31	5.087001	0.94100	.	.	ENSG00000154928	ENST00000398015;ENST00000493838	.	.	.	5.87	5.87	0.94306	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.2033	0.98269	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EPHB1	136367499	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	9.793000	0.99091	2.779000	0.95612	0.655000	0.94253	.	EPHB1	-	-	ENSG00000154928		0.488	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHB1	HGNC	protein_coding	OTTHUMT00000357671.1	-	0.00	49	0	G	NM_004441	Intron	134884809	+1	tier1	-	no_errors	ENST00000398015	ensembl	human	known	74_37	splice_site	8.06	57	5	SNP	1.000	T
EXT2	2132	genome.wustl.edu	37	11	44219380	44219380	+	Splice_Site	SNP	A	A	C			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr11:44219380A>C	ENST00000343631.3	+	9	1436	c.1307A>C	c.(1306-1308)aAg>aCg	p.K436T	EXT2_ENST00000395673.3_Splice_Site_p.K469T|EXT2_ENST00000358681.4_Splice_Site_p.K446T|EXT2_ENST00000533608.1_Splice_Site_p.K436T			Q93063	EXT2_HUMAN	exostosin glycosyltransferase 2	436					carbohydrate metabolic process (GO:0005975)|cell differentiation (GO:0030154)|cellular polysaccharide biosynthetic process (GO:0033692)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|mesoderm formation (GO:0001707)|ossification (GO:0001503)|protein glycosylation (GO:0006486)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)|glucuronosyltransferase activity (GO:0015020)|heparan sulfate N-acetylglucosaminyltransferase activity (GO:0042328)|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity (GO:0050509)|protein heterodimerization activity (GO:0046982)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						CTCTTGTAGAAGTGGGGCAGC	0.532			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Hereditary Multiple Exostoses																														yes	Rec		Multiple Exostoses Type 2	11	11p12-p11	2132	multiple exostoses type 2 gene		M	0													86.0	84.0	84.0					11																	44219380		2203	4299	6502	SO:0001630	splice_region_variant	0	Familial Cancer Database	HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses		CCDS7908.1, CCDS53618.1, CCDS53619.1	11p12-p11	2014-09-17	2013-03-01		ENSG00000151348	ENSG00000151348	2.4.1.224, 2.4.1.225	"""Exostosin glycosyltransferase family"""	3513	protein-coding gene	gene with protein product	"""Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase"", ""N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"""	608210	"""exostoses (multiple) 2"", ""exostosin 2"""			8162019, 9576285	Standard	NM_000401		Approved	SOTV	uc001mya.3	Q93063	OTTHUMG00000166498	ENST00000343631.3:c.1306-1A>C	11.37:g.44219380A>C			B2R5Z6|C9JU51|J3KPT2|O15288	Missense_Mutation	SNP	pfam_HexNAc_Trfase_a,pfam_Exostosin	p.K469T	ENST00000343631.3	37	c.1406	CCDS7908.1	11	.	.	.	.	.	.	.	.	.	.	A	11.02	1.515154	0.27123	.	.	ENSG00000151348	ENST00000533608;ENST00000358681;ENST00000395673;ENST00000343631	D;D;D;D	0.94966	-3.54;-3.57;-3.56;-3.54	6.1	4.98	0.66077	.	0.250702	0.45126	D	0.000385	D	0.89577	0.6755	L	0.36672	1.1	0.54753	D	0.999982	B;B;B;B;B	0.28128	0.099;0.078;0.025;0.002;0.201	B;B;B;B;B	0.22386	0.016;0.035;0.012;0.002;0.039	D	0.85120	0.0968	10	0.20046	T	0.44	-3.0304	12.0741	0.53634	0.9334:0.0:0.0666:0.0	.	436;446;446;436;449	Q6NUL1;C9JU51;Q93063-2;Q93063;D3DR24	.;.;.;EXT2_HUMAN;.	T	436;446;469;436	ENSP00000431173:K436T;ENSP00000351509:K446T;ENSP00000379032:K469T;ENSP00000342656:K436T	ENSP00000342656:K436T	K	+	2	0	EXT2	44175956	1.000000	0.71417	0.992000	0.48379	0.813000	0.45954	7.446000	0.80609	1.140000	0.42260	0.528000	0.53228	AAG	EXT2	-	NULL	ENSG00000151348		0.532	EXT2-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	EXT2	HGNC	protein_coding	OTTHUMT00000390074.1	-	0.00	36	0	A	NM_000401	Missense_Mutation	44219380	+1	tier1	-	no_errors	ENST00000395673	ensembl	human	known	74_37	missense	42.00	29	21	SNP	1.000	C
EYS	346007	genome.wustl.edu	37	6	65301235	65301235	+	Missense_Mutation	SNP	T	T	G			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr6:65301235T>G	ENST00000370621.3	-	26	5051	c.4525A>C	c.(4525-4527)Aac>Cac	p.N1509H	EYS_ENST00000503581.1_Missense_Mutation_p.N1509H|EYS_ENST00000370616.2_Missense_Mutation_p.N1509H			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	1509					detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						GCTGATGAGTTTAAGATGGTT	0.418																																																	0													40.0	35.0	37.0					6																	65301235		692	1590	2282	SO:0001583	missense	0				CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.4525A>C	6.37:g.65301235T>G	ENSP00000359655:p.Asn1509His		A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.N1509H	ENST00000370621.3	37	c.4525		6	.	.	.	.	.	.	.	.	.	.	T	14.75	2.629356	0.46944	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616	D;D;D	0.84070	-1.8;-1.78;-1.78	5.84	3.41	0.39046	.	.	.	.	.	T	0.41766	0.1173	N	0.08118	0	0.21355	N	0.999717	B;B	0.29508	0.246;0.062	B;B	0.28139	0.086;0.023	T	0.31586	-0.9938	9	0.15952	T	0.53	.	6.2714	0.20956	0.0:0.1336:0.1386:0.7278	.	1509;1509	Q5T1H1-1;Q5T1H1	.;EYS_HUMAN	H	1509	ENSP00000424243:N1509H;ENSP00000359655:N1509H;ENSP00000359650:N1509H	ENSP00000359650:N1509H	N	-	1	0	EYS	65357956	0.988000	0.35896	0.998000	0.56505	0.971000	0.66376	0.599000	0.24089	1.032000	0.39892	0.482000	0.46254	AAC	EYS	-	NULL	ENSG00000188107		0.418	EYS-001	KNOWN	basic	protein_coding	EYS	HGNC	protein_coding	OTTHUMT00000351351.3	-	0.00	34	0	T	XM_294050		65301235	-1	tier1	-	no_errors	ENST00000370616	ensembl	human	known	74_37	missense	74.07	7	20	SNP	0.369	G
EYS	346007	genome.wustl.edu	37	6	66200490	66200490	+	Missense_Mutation	SNP	A	A	G			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr6:66200490A>G	ENST00000370621.3	-	5	1385	c.859T>C	c.(859-861)Tca>Cca	p.S287P	EYS_ENST00000503581.1_Missense_Mutation_p.S287P|EYS_ENST00000393380.2_Missense_Mutation_p.S287P|EYS_ENST00000370616.2_Missense_Mutation_p.S287P|EYS_ENST00000370618.3_Missense_Mutation_p.S287P|EYS_ENST00000342421.5_Missense_Mutation_p.S287P			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	287	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TTTTTACCTGAAAATTGCTCA	0.284																																																	0													59.0	54.0	56.0					6																	66200490		2203	4294	6497	SO:0001583	missense	0				CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.859T>C	6.37:g.66200490A>G	ENSP00000359655:p.Ser287Pro		A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.S287P	ENST00000370621.3	37	c.859		6	.	.	.	.	.	.	.	.	.	.	A	7.459	0.644321	0.14451	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616;ENST00000393380;ENST00000342421;ENST00000370618	D;D;D;D;D;D	0.87571	-2.27;-2.27;-2.27;-2.27;-2.27;-2.27	4.54	-1.86	0.07760	.	.	.	.	.	T	0.79964	0.4537	N	0.24115	0.695	0.09310	N	1	D;D;D	0.71674	0.997;0.998;0.997	D;D;D	0.69142	0.931;0.962;0.916	T	0.71593	-0.4546	9	0.54805	T	0.06	.	10.0532	0.42228	0.3724:0.0:0.0:0.6276	.	287;287;287	Q5T1H1-1;Q5T1H1-2;Q5SZM4	.;.;.	P	287	ENSP00000424243:S287P;ENSP00000359655:S287P;ENSP00000359650:S287P;ENSP00000377042:S287P;ENSP00000341818:S287P;ENSP00000359652:S287P	ENSP00000341818:S287P	S	-	1	0	EYS	66257211	1.000000	0.71417	0.000000	0.03702	0.240000	0.25518	1.840000	0.39230	-0.110000	0.12022	0.533000	0.62120	TCA	EYS	-	smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	ENSG00000188107		0.284	EYS-001	KNOWN	basic	protein_coding	EYS	HGNC	protein_coding	OTTHUMT00000351351.3	-	0.00	37	0	A	XM_294050		66200490	-1	tier1	-	no_errors	ENST00000370616	ensembl	human	known	74_37	missense	84.78	7	39	SNP	0.063	G
EYS	346007	genome.wustl.edu	37	6	66205228	66205228	+	Silent	SNP	G	G	T			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr6:66205228G>T	ENST00000370621.3	-	4	602	c.76C>A	c.(76-78)Cgg>Agg	p.R26R	EYS_ENST00000503581.1_Silent_p.R26R|EYS_ENST00000393380.2_Silent_p.R26R|EYS_ENST00000370616.2_Silent_p.R26R|EYS_ENST00000370618.3_Silent_p.R26R|EYS_ENST00000342421.5_Silent_p.R26R			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	26					detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						ACCAATTGCCGTCTACATGTT	0.398																																																	0													87.0	86.0	86.0					6																	66205228		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.76C>A	6.37:g.66205228G>T			A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Silent	SNP	pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.R26	ENST00000370621.3	37	c.76		6																																																																																			EYS	-	NULL	ENSG00000188107		0.398	EYS-001	KNOWN	basic	protein_coding	EYS	HGNC	protein_coding	OTTHUMT00000351351.3		0.00	20	0	G	XM_294050		66205228	-1			no_errors	ENST00000370616	ensembl	human	known	74_37	silent	6.06	31	2	SNP	0.000	T
EZH1	2145	genome.wustl.edu	37	17	40861907	40861907	+	Missense_Mutation	SNP	C	C	T			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr17:40861907C>T	ENST00000428826.2	-	13	1571	c.1450G>A	c.(1450-1452)Gat>Aat	p.D484N	EZH1_ENST00000415827.2_Missense_Mutation_p.D475N|EZH1_ENST00000435174.1_Missense_Mutation_p.D345N|EZH1_ENST00000590078.1_Missense_Mutation_p.D414N|EZH1_ENST00000585893.1_Missense_Mutation_p.D444N|EZH1_ENST00000592743.1_Missense_Mutation_p.D484N|EZH1_ENST00000590783.1_5'Flank			Q92800	EZH1_HUMAN	enhancer of zeste 1 polycomb repressive complex 2 subunit	484					anatomical structure morphogenesis (GO:0009653)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)			breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		ATGAGCTCATCTGTTGGCAGC	0.488																																																	0													235.0	214.0	221.0					17																	40861907		2203	4300	6503	SO:0001583	missense	0				CCDS32659.1	17q21.1-q21.3	2014-05-28	2014-05-28			ENSG00000108799		"""Chromatin-modifying enzymes / K-methyltransferases"""	3526	protein-coding gene	gene with protein product		601674	"""enhancer of zeste (Drosophila) homolog 1"", ""enhancer of zeste homolog 1 (Drosophila)"""			8921387	Standard	NM_001991		Approved	KIAA0388, KMT6B	uc002iaz.3	Q92800		ENST00000428826.2:c.1450G>A	17.37:g.40861907C>T	ENSP00000404658:p.Asp484Asn		A6NCH6|B4DIJ1|B4DIZ7|B4DSS2|B4E3R7|O43287|Q14459|Q53XP3	Missense_Mutation	SNP	pfam_SET_dom,pfam_EZH2_WD-Binding,superfamily_Homeodomain-like,smart_SANT/Myb,smart_SET_dom,pfscan_SET_dom	p.D484N	ENST00000428826.2	37	c.1450	CCDS32659.1	17	.	.	.	.	.	.	.	.	.	.	C	14.06	2.423496	0.43020	.	.	ENSG00000108799	ENST00000264646;ENST00000428826;ENST00000415827;ENST00000435174	T;T	0.78924	-1.22;-1.22	5.34	3.23	0.37069	.	0.414963	0.29964	N	0.010752	T	0.51568	0.1682	N	0.08118	0	0.33831	D	0.630227	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.10450	0.005;0.001;0.001;0.001;0.0	T	0.50372	-0.8836	10	0.17369	T	0.5	.	4.5069	0.11893	0.0:0.5963:0.0:0.4037	.	345;444;490;414;484	Q92800-5;Q92800-3;Q92800-2;Q92800-4;Q92800	.;.;.;.;EZH1_HUMAN	N	487;484;444;345	ENSP00000404658:D484N;ENSP00000404071:D345N	ENSP00000264646:D487N	D	-	1	0	EZH1	38115433	0.851000	0.29673	1.000000	0.80357	0.986000	0.74619	1.309000	0.33539	1.482000	0.48325	0.655000	0.94253	GAT	EZH1	-	NULL	ENSG00000108799		0.488	EZH1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	EZH1	HGNC	protein_coding	OTTHUMT00000452347.1	-	0.00	52	0	C	NM_001991		40861907	-1	tier1	-	no_errors	ENST00000428826	ensembl	human	known	74_37	missense	7.34	101	8	SNP	1.000	T
EZH2	2146	genome.wustl.edu	37	7	148525883	148525883	+	Missense_Mutation	SNP	C	C	A			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr7:148525883C>A	ENST00000460911.1	-	6	662	c.574G>T	c.(574-576)Gat>Tat	p.D192Y	EZH2_ENST00000476773.1_Missense_Mutation_p.D183Y|EZH2_ENST00000483967.1_Missense_Mutation_p.D183Y|EZH2_ENST00000320356.2_Missense_Mutation_p.D192Y|EZH2_ENST00000478654.1_Missense_Mutation_p.D183Y|EZH2_ENST00000536783.1_Missense_Mutation_p.D83Y|EZH2_ENST00000541220.1_Missense_Mutation_p.D183Y|EZH2_ENST00000350995.2_Missense_Mutation_p.D153Y			Q15910	EZH2_HUMAN	enhancer of zeste 2 polycomb repressive complex 2 subunit	192	Interaction with DNMT1, DNMT3A and DNMT3B.				cellular response to hydrogen peroxide (GO:0070301)|cerebellar cortex development (GO:0021695)|chromatin organization (GO:0006325)|DNA methylation (GO:0006306)|G1 to G0 transition (GO:0070314)|histone H3-K27 methylation (GO:0070734)|negative regulation of epidermal cell differentiation (GO:0045605)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|protein localization to chromatin (GO:0071168)|regulation of cell proliferation (GO:0042127)|regulation of circadian rhythm (GO:0042752)|regulation of gliogenesis (GO:0014013)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)	p.D192N(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			TCTTCAGGATCGTCTCcatca	0.388			Mis		DLBCL																																			Rec?	yes		7	7q35-q36	2146	enhancer of zeste homolog 2		L	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)											198.0	166.0	177.0					7																	148525883		2203	4300	6503	SO:0001583	missense	0				CCDS5891.1, CCDS5892.1, CCDS56516.1, CCDS56517.1, CCDS56518.1	7q35-q36	2014-09-17	2014-05-28		ENSG00000106462	ENSG00000106462		"""Chromatin-modifying enzymes / K-methyltransferases"""	3527	protein-coding gene	gene with protein product		601573	"""enhancer of zeste (Drosophila) homolog 2"", ""enhancer of zeste homolog 2 (Drosophila)"""			8954776, 17172412	Standard	NM_152998		Approved	EZH1, ENX-1, KMT6, KMT6A	uc003wfb.2	Q15910	OTTHUMG00000158973	ENST00000460911.1:c.574G>T	7.37:g.148525883C>A	ENSP00000419711:p.Asp192Tyr		B2RAQ1|B3KS30|B7Z1D6|B7Z7L6|Q15755|Q75MG3|Q92857|Q96FI6	Missense_Mutation	SNP	pfam_SET_dom,pfam_EZH2_WD-Binding,superfamily_Homeodomain-like,smart_SANT/Myb,smart_SET_dom,pfscan_SET_dom	p.D192Y	ENST00000460911.1	37	c.574	CCDS56516.1	7	.	.	.	.	.	.	.	.	.	.	C	19.29	3.799948	0.70567	.	.	ENSG00000106462	ENST00000478654;ENST00000320356;ENST00000460911;ENST00000350995;ENST00000541220;ENST00000476773;ENST00000483967;ENST00000536783	D;D;D;D;D;D;D;T	0.94184	-3.32;-3.35;-3.35;-3.37;-3.32;-3.32;-3.37;0.89	5.69	3.77	0.43336	SANT domain, DNA binding (1);	0.202492	0.33253	N	0.005116	D	0.88588	0.6477	L	0.29908	0.895	0.44061	D	0.996807	P;B;B;B;B;B	0.52577	0.954;0.001;0.001;0.0;0.001;0.001	B;B;B;B;B;B	0.41466	0.358;0.005;0.014;0.002;0.005;0.004	D	0.88465	0.3058	10	0.46703	T	0.11	.	14.4606	0.67445	0.2676:0.7324:0.0:0.0	.	192;183;183;192;153;192	B7Z8K5;Q15910-4;Q15910-5;Q15910;Q15910-3;Q15910-2	.;.;.;EZH2_HUMAN;.;.	Y	183;192;192;153;183;183;183;83	ENSP00000417062:D183Y;ENSP00000320147:D192Y;ENSP00000419711:D192Y;ENSP00000223193:D153Y;ENSP00000443219:D183Y;ENSP00000419050:D183Y;ENSP00000419856:D183Y;ENSP00000439305:D83Y	ENSP00000320147:D192Y	D	-	1	0	EZH2	148156816	1.000000	0.71417	0.979000	0.43373	0.973000	0.67179	5.208000	0.65203	1.348000	0.45733	0.585000	0.79938	GAT	EZH2	-	smart_SANT/Myb	ENSG00000106462		0.388	EZH2-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	EZH2	HGNC	protein_coding	OTTHUMT00000352744.1		0.00	22	0	C	NM_004456		148525883	-1			no_errors	ENST00000320356	ensembl	human	known	74_37	missense	6.67	28	2	SNP	1.000	A
FAM138B	654412	genome.wustl.edu	37	2	114335558	114335558	+	lincRNA	SNP	G	G	C			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr2:114335558G>C	ENST00000432583.2	+	0	361									family with sequence similarity 138, member B																		attttttatagagacaaagtc	0.413																																																	0																																												0					2q13	2013-01-30			ENSG00000226516	ENSG00000226516		"""Long non-coding RNAs"""	33582	non-coding RNA	RNA, long non-coding						11779631, 15233989	Standard	NR_026821		Approved	F379	uc002tjz.3		OTTHUMG00000047820		2.37:g.114335558G>C				Splice_Site	SNP	-	NULL	ENST00000432583.2	37	c.NULL		2																																																																																			FAM138B	-	-	ENSG00000226516		0.413	FAM138B-002	KNOWN	basic	lincRNA	FAM138B	HGNC	lincRNA	OTTHUMT00000109027.3	-	0.00	71	0	G	NR_026821		114335558	+1	tier1	-	no_errors	ENST00000432583	ensembl	human	known	74_37	splice_site	29.57	81	34	SNP	0.629	C
FAM65C	140876	genome.wustl.edu	37	20	49208889	49208889	+	Silent	SNP	G	G	T	rs371046060		TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr20:49208889G>T	ENST00000327979.2	-	19	2968	c.2557C>A	c.(2557-2559)Cgg>Agg	p.R853R	FAM65C_ENST00000535356.1_Silent_p.R857R|FAM65C_ENST00000462842.1_5'Flank|FAM65C_ENST00000045083.2_Silent_p.R853R			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	853										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ACCTTTTCCCGGAAGCTTCTG	0.597																																																	0													38.0	41.0	40.0					20																	49208889		2037	4174	6211	SO:0001819	synonymous_variant	0			AL133230	CCDS13431.2	20q13.13	2011-11-24	2008-06-13	2008-06-13	ENSG00000042062	ENSG00000042062			16168	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 175"", ""chromosome 20 open reading frame 176"""	C20orf175, C20orf176			Standard	XM_005260294		Approved	dJ530I15.2, dJ530I15.3	uc002xvm.3	Q96MK2	OTTHUMG00000032724	ENST00000327979.2:c.2557C>A	20.37:g.49208889G>T			Q5QPB6|Q9NQQ2	Silent	SNP	superfamily_ARM-type_fold,superfamily_Chemokine_IL8-like_dom	p.R857	ENST00000327979.2	37	c.2569	CCDS13431.2	20																																																																																			FAM65C	-	superfamily_ARM-type_fold	ENSG00000042062		0.597	FAM65C-004	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM65C	HGNC	protein_coding	OTTHUMT00000257962.1	-	0.00	14	0	G			49208889	-1	tier1	-	no_errors	ENST00000535356	ensembl	human	known	74_37	silent	46.43	15	13	SNP	1.000	T
FAM98C	147965	genome.wustl.edu	37	19	38894313	38894313	+	Missense_Mutation	SNP	G	G	A			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr19:38894313G>A	ENST00000252530.5	+	3	347	c.328G>A	c.(328-330)Ggt>Agt	p.G110S	FAM98C_ENST00000343358.7_Missense_Mutation_p.G110S|FAM98C_ENST00000588262.1_Missense_Mutation_p.G110S|FAM98C_ENST00000585954.1_3'UTR	NM_174905.3	NP_777565.3	Q17RN3	FA98C_HUMAN	family with sequence similarity 98, member C	110										endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(60;3.95e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TCGGGAACCCGGTGCCGGACT	0.692																																																	0													3.0	4.0	4.0					19																	38894313		1610	3569	5179	SO:0001583	missense	0				CCDS42562.1	19q13.2	2008-02-05				ENSG00000130244			27119	protein-coding gene	gene with protein product						12477932	Standard	NM_174905		Approved	FLJ44669	uc002oin.1	Q17RN3		ENST00000252530.5:c.328G>A	19.37:g.38894313G>A	ENSP00000252530:p.Gly110Ser		A6NMW3|Q66K45	Missense_Mutation	SNP	pfam_Uncharacterised_FAM98	p.G110S	ENST00000252530.5	37	c.328	CCDS42562.1	19	.	.	.	.	.	.	.	.	.	.	g	4.567	0.105393	0.08731	.	.	ENSG00000130244	ENST00000252530;ENST00000343358	T;T	0.39787	1.06;1.06	3.77	1.6	0.23607	.	0.579483	0.14250	N	0.331520	T	0.24547	0.0595	L	0.35487	1.065	0.09310	N	1	B;B;B	0.32350	0.113;0.366;0.054	B;B;B	0.27608	0.029;0.081;0.013	T	0.17592	-1.0364	10	0.10902	T	0.67	-34.5886	7.6298	0.28232	0.217:0.0:0.783:0.0	.	110;110;110	B7ZLI5;Q17RN3-2;Q17RN3	.;.;FA98C_HUMAN	S	110	ENSP00000252530:G110S;ENSP00000340348:G110S	ENSP00000252530:G110S	G	+	1	0	FAM98C	43586153	0.036000	0.19791	0.002000	0.10522	0.005000	0.04900	1.489000	0.35562	0.289000	0.22422	0.450000	0.29827	GGT	FAM98C	-	pfam_Uncharacterised_FAM98	ENSG00000130244		0.692	FAM98C-001	KNOWN	basic|CCDS	protein_coding	FAM98C	HGNC	protein_coding	OTTHUMT00000459222.1		0.00	21	0	G	NM_174905		38894313	+1			no_errors	ENST00000252530	ensembl	human	known	74_37	missense	7.89	35	3	SNP	0.002	A
FAT1	2195	genome.wustl.edu	37	4	187540345	187540345	+	Silent	SNP	C	C	A			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr4:187540345C>A	ENST00000441802.2	-	10	7604	c.7395G>T	c.(7393-7395)ctG>ctT	p.L2465L		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2465	Cadherin 22. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CAGACACTGACAGGTTAAGAC	0.438										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)												0													198.0	198.0	198.0					4																	187540345		1981	4159	6140	SO:0001819	synonymous_variant	0			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.7395G>T	4.37:g.187540345C>A				Silent	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin	p.L2465	ENST00000441802.2	37	c.7395	CCDS47177.1	4																																																																																			FAT1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000083857		0.438	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT1	HGNC	protein_coding	OTTHUMT00000360209.3		0.00	36	0	C	NM_005245		187540345	-1			no_errors	ENST00000441802	ensembl	human	known	74_37	silent	10.00	26	3	SNP	0.620	A
FBN3	84467	genome.wustl.edu	37	19	8210812	8210812	+	Silent	SNP	G	G	A			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr19:8210812G>A	ENST00000600128.1	-	5	774	c.360C>T	c.(358-360)tgC>tgT	p.C120C	FBN3_ENST00000270509.2_Silent_p.C120C|FBN3_ENST00000601739.1_Silent_p.C120C			Q75N90	FBN3_HUMAN	fibrillin 3	120						proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						AGCTCACACTGCACCCTGACC	0.622																																																	0													38.0	30.0	33.0					19																	8210812		2033	3949	5982	SO:0001819	synonymous_variant	0				CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.360C>T	19.37:g.8210812G>A			Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Silent	SNP	pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom	p.C120	ENST00000600128.1	37	c.360	CCDS12196.1	19																																																																																			FBN3	-	smart_EG-like_dom,pirsf_FBN	ENSG00000142449		0.622	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN3	HGNC	protein_coding	OTTHUMT00000461428.2	-	0.00	35	0	G	NM_032447		8210812	-1	tier1	-	no_errors	ENST00000270509	ensembl	human	known	74_37	silent	7.41	50	4	SNP	1.000	A
FBXL14	144699	genome.wustl.edu	37	12	1675955	1675955	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr12:1675955G>T	ENST00000339235.3	-	2	1314	c.1216C>A	c.(1216-1218)Cca>Aca	p.P406T		NM_152441.2	NP_689654.1	Q8N1E6	FXL14_HUMAN	F-box and leucine-rich repeat protein 14	406					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	8	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00115)			gtgaataatggagaaaaatcc	0.527																																																	0													118.0	104.0	109.0					12																	1675955		2203	4300	6503	SO:0001583	missense	0			BC028132	CCDS8509.1	12p13.33	2011-06-09			ENSG00000171823	ENSG00000171823		"""F-boxes / Leucine-rich repeats"""	28624	protein-coding gene	gene with protein product		609081				12477932	Standard	NM_152441		Approved	MGC40195, Fbl14	uc001qjh.3	Q8N1E6	OTTHUMG00000090369	ENST00000339235.3:c.1216C>A	12.37:g.1675955G>T	ENSP00000344855:p.Pro406Thr			Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_F-box_dom,pfam_Leu-rich_rpt_2,superfamily_F-box_dom,smart_Leu-rich_rpt_Cys-con_subtyp	p.P406T	ENST00000339235.3	37	c.1216	CCDS8509.1	12	.	.	.	.	.	.	.	.	.	.	G	0.191	-1.052953	0.01965	.	.	ENSG00000171823	ENST00000339235	T	0.06068	3.35	0.853	0.853	0.19001	.	1.707390	0.04788	U	0.431073	T	0.05456	0.0144	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41288	-0.9517	10	0.28530	T	0.3	.	5.0049	0.14282	0.0:0.0:1.0:0.0	.	406	Q8N1E6	FXL14_HUMAN	T	406	ENSP00000344855:P406T	ENSP00000344855:P406T	P	-	1	0	FBXL14	1546216	0.974000	0.33945	0.204000	0.23530	0.030000	0.12068	0.133000	0.15912	0.742000	0.32697	0.561000	0.74099	CCA	FBXL14	-	NULL	ENSG00000171823		0.527	FBXL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXL14	HGNC	protein_coding	OTTHUMT00000206741.1	-	0.00	74	0	G	NM_152441		1675955	-1	tier1	-	no_errors	ENST00000339235	ensembl	human	known	74_37	missense	6.25	59	4	SNP	0.337	T
FBXO10	26267	genome.wustl.edu	37	9	37541505	37541505	+	Missense_Mutation	SNP	C	C	G			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr9:37541505C>G	ENST00000432825.2	-	2	309	c.261G>C	c.(259-261)aaG>aaC	p.K87N	RP11-613M10.8_ENST00000544475.1_5'UTR|FBXO10_ENST00000541829.1_Intron|RP11-613M10.8_ENST00000537239.2_3'UTR	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN	F-box protein 10	87					apoptotic process (GO:0006915)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of apoptotic process (GO:0042981)	cytoplasm (GO:0005737)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		CCAAGGCATTCTTGGTCCATG	0.552																																																	0													68.0	68.0	68.0					9																	37541505		2020	4208	6228	SO:0001583	missense	0			AF174598	CCDS47966.1	9p13.1	2014-01-29	2004-06-15		ENSG00000147912	ENSG00000147912		"""F-boxes /  ""other"""""	13589	protein-coding gene	gene with protein product		609092	"""F-box only protein 10"""			10531035, 10531037, 19300908	Standard	NM_012166		Approved	FBX10	uc004aab.3	Q9UK96	OTTHUMG00000019926	ENST00000432825.2:c.261G>C	9.37:g.37541505C>G	ENSP00000403802:p.Lys87Asn		Q08AL3|Q08AL4|Q5JRT8|Q9UKC3	Missense_Mutation	SNP	pfam_F-box_dom,superfamily_Pectin_lyase_fold/virulence,superfamily_F-box_dom,smart_F-box_dom,smart_PbH1,smart_Carb-bd_sugar_hydrolysis-dom,pfscan_F-box_dom,tigrfam_Para_beta_helix_rpt-2	p.K87N	ENST00000432825.2	37	c.261	CCDS47966.1	9	.	.	.	.	.	.	.	.	.	.	C	16.93	3.256774	0.59321	.	.	ENSG00000147912	ENST00000432825	T	0.50813	0.73	5.81	3.72	0.42706	F-box domain, Skp2-like (1);	0.102513	0.64402	D	0.000003	T	0.31358	0.0794	N	0.17082	0.46	0.80722	D	1	P	0.52842	0.956	B	0.44224	0.444	T	0.11348	-1.0591	10	0.59425	D	0.04	-32.0101	7.608	0.28113	0.0:0.7264:0.0:0.2736	.	87	Q9UK96	FBX10_HUMAN	N	87	ENSP00000403802:K87N	ENSP00000276960:K87N	K	-	3	2	FBXO10	37531505	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	0.875000	0.28079	1.439000	0.47511	0.555000	0.69702	AAG	FBXO10	-	superfamily_F-box_dom	ENSG00000147912		0.552	FBXO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO10	HGNC	protein_coding	OTTHUMT00000052472.3	-	0.00	69	0	C			37541505	-1	tier1	-	no_errors	ENST00000432825	ensembl	human	known	74_37	missense	31.33	56	26	SNP	1.000	G
FBXW5	54461	genome.wustl.edu	37	9	139836975	139836975	+	Intron	SNP	C	C	T			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr9:139836975C>T	ENST00000325285.3	-	5	755				FBXW5_ENST00000483559.1_5'UTR|C8G_ENST00000224181.3_5'Flank	NM_018998.3	NP_061871.1	Q969U6	FBXW5_HUMAN	F-box and WD repeat domain containing 5						centrosome duplication (GO:0051298)|mitotic nuclear division (GO:0007067)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)	protein kinase binding (GO:0019901)			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)		AGGAGGGCAGCCCCGCCCCTA	0.677																																																	0													20.0	19.0	19.0					9																	139836975		2191	4292	6483	SO:0001627	intron_variant	0			BC014130	CCDS7014.1	9q34.3	2013-01-09	2007-02-08		ENSG00000159069	ENSG00000159069		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	13613	protein-coding gene	gene with protein product		609072	"""F-box and WD-40 domain protein 5"""				Standard	NM_018998		Approved	DKFZP434B205, MGC20962, Fbw5	uc004cjx.3	Q969U6	OTTHUMG00000020967	ENST00000325285.3:c.675+23G>A	9.37:g.139836975C>T			B2RDZ6|Q59ET5|Q5SPZ8|Q5SPZ9|Q5SQ00|Q5SQ02|Q5SQ03|Q5SQ04|Q8WY79|Q96GJ6|Q9BSU8|Q9H6A8|Q9HBQ6|Q9NSZ3	RNA	SNP	-	NULL	ENST00000325285.3	37	NULL	CCDS7014.1	9																																																																																			FBXW5	-	-	ENSG00000159069		0.677	FBXW5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXW5	HGNC	protein_coding	OTTHUMT00000055227.1	-	0.00	28	0	C	NM_018998		139836975	-1	tier1	-	no_errors	ENST00000483559	ensembl	human	known	74_37	rna	22.22	14	4	SNP	0.000	T
FFAR2	2867	genome.wustl.edu	37	19	35941156	35941156	+	Silent	SNP	G	G	A			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr19:35941156G>A	ENST00000599180.2	+	2	620	c.540G>A	c.(538-540)cgG>cgA	p.R180R	FFAR2_ENST00000246549.2_Silent_p.R180R|FFAR2_ENST00000601590.1_Intron			O15552	FFAR2_HUMAN	free fatty acid receptor 2	180					cell surface pattern recognition receptor signaling pathway (GO:0002752)|cellular response to fatty acid (GO:0071398)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|leukocyte chemotaxis involved in inflammatory response (GO:0002232)|lipid storage (GO:0019915)|mucosal immune response (GO:0002385)|positive regulation of acute inflammatory response to non-antigenic stimulus (GO:0002879)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production involved in immune response (GO:0002720)|positive regulation of interleukin-8 secretion (GO:2000484)|regulation of acute inflammatory response (GO:0002673)|regulation of peptide hormone secretion (GO:0090276)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			TGCCCGTGCGGCTGGAGCTGT	0.542																																					GBM(40;139 809 9833 23358 48736)												0													112.0	84.0	93.0					19																	35941156		2203	4300	6503	SO:0001819	synonymous_variant	0			AF024690	CCDS12461.1	19q13.1	2012-08-08	2006-02-15	2006-02-15		ENSG00000126262		"""GPCR / Class A : Fatty acid receptors"""	4501	protein-coding gene	gene with protein product		603823	"""G protein-coupled receptor 43"""	GPR43		9344866	Standard	NM_005306		Approved	FFA2R	uc010eea.3	O15552		ENST00000599180.2:c.540G>A	19.37:g.35941156G>A			B0M0J9|Q4VAZ3|Q4VAZ5|Q4VBL5	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_GPR40-rel_orph	p.R180	ENST00000599180.2	37	c.540	CCDS12461.1	19																																																																																			FFAR2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000126262		0.542	FFAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FFAR2	HGNC	protein_coding	OTTHUMT00000466120.3	-	0.00	70	0	G	NM_005306		35941156	+1	tier1	-	no_errors	ENST00000246549	ensembl	human	known	74_37	silent	9.09	50	5	SNP	0.735	A
FHAD1	114827	genome.wustl.edu	37	1	15686998	15686998	+	Missense_Mutation	SNP	C	C	A			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr1:15686998C>A	ENST00000375998.4	+	20	2695	c.2695C>A	c.(2695-2697)Ctg>Atg	p.L899M	FHAD1_ENST00000314740.8_Missense_Mutation_p.L152M|FHAD1_ENST00000358897.4_Missense_Mutation_p.L899M|FHAD1_ENST00000375999.3_Missense_Mutation_p.L899M|FHAD1_ENST00000471347.1_3'UTR|FHAD1_ENST00000417793.1_Missense_Mutation_p.L863M			B1AJZ9	FHAD1_HUMAN	forkhead-associated (FHA) phosphopeptide binding domain 1	899										skin(1)|stomach(1)	2						GCGGCTAATCCTGCAGCAGAA	0.493																																																	0													74.0	69.0	70.0					1																	15686998		692	1591	2283	SO:0001583	missense	0			AK093300		1p36.21	2012-04-19			ENSG00000142621	ENSG00000142621			29408	protein-coding gene	gene with protein product						11572484	Standard	NM_052929		Approved	KIAA1937	uc001awb.2	B1AJZ9	OTTHUMG00000002088	ENST00000375998.4:c.2695C>A	1.37:g.15686998C>A	ENSP00000365166:p.Leu899Met		Q0P6F5|Q8N8D3|Q8N9T6|Q8NA05	Missense_Mutation	SNP	pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	p.L899M	ENST00000375998.4	37	c.2695		1	.	.	.	.	.	.	.	.	.	.	C	10.96	1.498601	0.26861	.	.	ENSG00000142621	ENST00000358897;ENST00000417793;ENST00000375999;ENST00000375998;ENST00000529606;ENST00000314740;ENST00000314668	T;T;T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83;0.83;0.83	4.95	1.57	0.23409	.	.	.	.	.	T	0.36276	0.0961	L	0.53249	1.67	0.09310	N	1	P;B;B	0.40431	0.717;0.356;0.325	B;B;B	0.37198	0.243;0.127;0.037	T	0.28490	-1.0042	9	0.48119	T	0.1	.	2.8676	0.05607	0.1646:0.5004:0.2322:0.1028	.	152;899;899	B7WPP2;B1AJZ9-3;B1AJZ9	.;.;FHAD1_HUMAN	M	899;863;899;899;170;152;134	ENSP00000351770:L899M;ENSP00000407615:L863M;ENSP00000365167:L899M;ENSP00000365166:L899M;ENSP00000434909:L170M;ENSP00000322979:L152M;ENSP00000318812:L134M	ENSP00000318812:L134M	L	+	1	2	FHAD1	15559585	0.006000	0.16342	0.047000	0.18901	0.003000	0.03518	0.125000	0.15749	0.576000	0.29452	0.563000	0.77884	CTG	FHAD1	-	NULL	ENSG00000142621		0.493	FHAD1-026	PUTATIVE	basic|appris_candidate_longest	protein_coding	FHAD1	HGNC	protein_coding	OTTHUMT00000393400.2		0.00	23	0	C	NM_052929		15686998	+1			no_errors	ENST00000375999	ensembl	human	known	74_37	missense	6.06	62	4	SNP	0.027	A
FN1	2335	genome.wustl.edu	37	2	216279653	216279653	+	Silent	SNP	G	G	T			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr2:216279653G>T	ENST00000359671.1	-	13	2113	c.1848C>A	c.(1846-1848)atC>atA	p.I616I	FN1_ENST00000443816.1_Silent_p.I616I|FN1_ENST00000426059.1_Silent_p.I616I|FN1_ENST00000356005.4_Silent_p.I616I|FN1_ENST00000354785.4_Silent_p.I616I|FN1_ENST00000323926.6_Silent_p.I616I|FN1_ENST00000336916.4_Silent_p.I616I|FN1_ENST00000432072.2_Silent_p.I616I|FN1_ENST00000346544.3_Silent_p.I616I|FN1_ENST00000357009.2_Silent_p.I616I|FN1_ENST00000421182.1_Silent_p.I616I|FN1_ENST00000357867.4_Silent_p.I616I|FN1_ENST00000446046.1_Silent_p.I616I|FN1_ENST00000345488.5_Silent_p.I616I			P02751	FINC_HUMAN	fibronectin 1	616	Fibronectin type-III 1.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	GAGTCTCAGTGATAAATACTT	0.433																																																	0													82.0	80.0	80.0					2																	216279653		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.1848C>A	2.37:g.216279653G>T			B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Silent	SNP	pfam_Fibronectin_type3,pfam_Fibronectin_type1,pfam_FN_type2_col-bd,superfamily_Kringle-like,superfamily_Fibronectin_type3,smart_Fibronectin_type1,smart_FN_type2_col-bd,smart_Fibronectin_type3,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Fibronectin_type3	p.I616	ENST00000359671.1	37	c.1848		2																																																																																			FN1	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000115414		0.433	FN1-204	KNOWN	basic	protein_coding	FN1	HGNC	protein_coding		-	0.00	52	0	G	NM_212476		216279653	-1	tier1	-	no_errors	ENST00000354785	ensembl	human	known	74_37	silent	5.75	82	5	SNP	1.000	T
FRYL	285527	genome.wustl.edu	37	4	48597621	48597621	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr4:48597621G>T	ENST00000503238.1	-	12	1233	c.1234C>A	c.(1234-1236)Cag>Aag	p.Q412K	FRYL_ENST00000537810.1_Missense_Mutation_p.Q412K|FRYL_ENST00000507711.1_Missense_Mutation_p.Q412K|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000506685.1_Missense_Mutation_p.Q118K|FRYL_ENST00000358350.4_Missense_Mutation_p.Q412K			O94915	FRYL_HUMAN	FRY-like	412					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						GCAATGAACTGAATAATCTTC	0.363																																																	0													90.0	79.0	82.0					4																	48597621		1855	4089	5944	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.1234C>A	4.37:g.48597621G>T	ENSP00000426064:p.Gln412Lys		O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.Q412K	ENST00000503238.1	37	c.1234	CCDS43227.1	4	.	.	.	.	.	.	.	.	.	.	G	35	5.520013	0.96416	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000507711;ENST00000506685	T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.1	5.97	5.97	0.96955	Armadillo-type fold (1);	0.000000	0.64402	U	0.000001	T	0.79718	0.4494	M	0.79475	2.455	0.80722	D	1	P;D	0.67145	0.843;0.996	P;D	0.67548	0.893;0.952	T	0.75687	-0.3231	10	0.32370	T	0.25	.	20.4238	0.99064	0.0:0.0:1.0:0.0	.	412;412	F2Z2S2;O94915	.;FRYL_HUMAN	K	412;412;412;412;118	ENSP00000426064:Q412K;ENSP00000351113:Q412K;ENSP00000441114:Q412K;ENSP00000421584:Q412K	ENSP00000351113:Q412K	Q	-	1	0	FRYL	48292378	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.834000	0.97654	0.650000	0.86243	CAG	FRYL	-	superfamily_ARM-type_fold	ENSG00000075539		0.363	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FRYL	HGNC	protein_coding	OTTHUMT00000369265.2		0.00	29	0	G			48597621	-1			no_errors	ENST00000358350	ensembl	human	known	74_37	missense	5.26	36	2	SNP	1.000	T
FSTL5	56884	genome.wustl.edu	37	4	162307449	162307449	+	Missense_Mutation	SNP	C	C	T			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr4:162307449C>T	ENST00000306100.5	-	16	2430	c.1994G>A	c.(1993-1995)tGc>tAc	p.C665Y	RP11-234O6.2_ENST00000508189.1_RNA|FSTL5_ENST00000427802.2_Missense_Mutation_p.C655Y|FSTL5_ENST00000536695.1_Missense_Mutation_p.C664Y|FSTL5_ENST00000379164.4_Missense_Mutation_p.C664Y	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	665						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		GTCAGGTTTGCAGCCAATGAA	0.468																																																	0													98.0	90.0	92.0					4																	162307449		2203	4300	6503	SO:0001583	missense	0			BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.1994G>A	4.37:g.162307449C>T	ENSP00000305334:p.Cys665Tyr		E9PCP6|Q9NSW7|Q9ULF7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Kazal_dom,pfam_Ig_V-set,smart_Kazal_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_hand_dom,pfscan_Ig-like_dom	p.C665Y	ENST00000306100.5	37	c.1994	CCDS3802.1	4	.	.	.	.	.	.	.	.	.	.	C	20.7	4.026781	0.75390	.	.	ENSG00000168843	ENST00000306100;ENST00000379164;ENST00000427802;ENST00000536695	T;T;T;T	0.30182	1.54;1.54;1.54;1.54	5.42	5.42	0.78866	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.61098	0.2320	M	0.83223	2.63	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;0.999	T	0.65845	-0.6069	10	0.66056	D	0.02	.	18.213	0.89877	0.0:1.0:0.0:0.0	.	655;664;665	E9PCP6;F8VZ90;Q8N475	.;.;FSTL5_HUMAN	Y	665;664;655;664	ENSP00000305334:C665Y;ENSP00000368462:C664Y;ENSP00000389270:C655Y;ENSP00000440409:C664Y	ENSP00000305334:C665Y	C	-	2	0	FSTL5	162526899	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	7.361000	0.79497	2.545000	0.85829	0.563000	0.77884	TGC	FSTL5	-	NULL	ENSG00000168843		0.468	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FSTL5	HGNC	protein_coding	OTTHUMT00000364773.2	-	0.00	44	0	C	NM_020116		162307449	-1	tier1	-	no_errors	ENST00000306100	ensembl	human	known	74_37	missense	6.67	56	4	SNP	1.000	T
GABRE	2564	genome.wustl.edu	37	X	151122015	151122015	+	3'UTR	SNP	A	A	C			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chrX:151122015A>C	ENST00000370328.3	-	0	2732				GABRE_ENST00000370325.1_3'UTR|GABRE_ENST00000483564.1_5'UTR	NM_004961.3	NP_004952.2	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon						gamma-aminobutyric acid signaling pathway (GO:0007214)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	aatggggataagaatcctgcc	0.443																																																	0																																										SO:0001624	3_prime_UTR_variant	0			Y09765	CCDS14703.1	Xq28	2012-06-22			ENSG00000102287	ENSG00000102287		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4085	protein-coding gene	gene with protein product	"""GABA(A) receptor, epsilon"""	300093				9039914, 9084408	Standard	NM_004961		Approved		uc004ffi.3	P78334	OTTHUMG00000024176	ENST00000370328.3:c.*1158T>G	X.37:g.151122015A>C			E7ET93|O15345|O15346|Q6PCD2|Q99520	RNA	SNP	-	NULL	ENST00000370328.3	37	NULL	CCDS14703.1	X																																																																																			GABRE	-	-	ENSG00000102287		0.443	GABRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRE	HGNC	protein_coding	OTTHUMT00000060903.1	-	0.00	9	0	A	NM_004961, NM_021990, NM_021984		151122015	-1	tier1	-	no_errors	ENST00000483564	ensembl	human	known	74_37	rna	90.00	2	18	SNP	0.481	C
GAD2	2572	genome.wustl.edu	37	10	26505760	26505760	+	Frame_Shift_Del	DEL	T	T	-			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr10:26505760delT	ENST00000376261.3	+	1	525	c.22delT	c.(22-24)tttfs	p.F8fs	GAD2_ENST00000259271.3_Frame_Shift_Del_p.F8fs|GAD2_ENST00000376248.1_5'Flank	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	8					glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|cell junction (GO:0030054)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						GGGCTCTGGCTTTTGGTCTTT	0.667																																																	0													65.0	69.0	68.0					10																	26505760		2203	4300	6503	SO:0001589	frameshift_variant	0			AJ251501	CCDS7149.1	10p13-p11.2	2003-11-11	2002-08-29		ENSG00000136750	ENSG00000136750	4.1.1.15		4093	protein-coding gene	gene with protein product		138275	"""glutamate decarboxylase 2 (pancreatic islets and brain, 65kD)"""			2039509	Standard	NM_000818		Approved	GAD65	uc001isp.2	Q05329	OTTHUMG00000017836	ENST00000376261.3:c.22delT	10.37:g.26505760delT	ENSP00000365437:p.Phe8fs		Q9UD87	Frame_Shift_Del	DEL	pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase	p.W9fs	ENST00000376261.3	37	c.22	CCDS7149.1	10																																																																																			GAD2	-	NULL	ENSG00000136750		0.667	GAD2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	GAD2	HGNC	protein_coding	OTTHUMT00000047255.1		0.00	35	0	T	NM_000818		26505760	+1	tier1		no_errors	ENST00000259271	ensembl	human	known	74_37	frame_shift_del	5.56	34	2	DEL	1.000	-
GALNT18	374378	genome.wustl.edu	37	11	11400788	11400788	+	Missense_Mutation	SNP	C	C	T	rs139800432		TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr11:11400788C>T	ENST00000227756.4	-	4	1030	c.619G>A	c.(619-621)Gaa>Aaa	p.E207K		NM_198516.2	NP_940918.2	Q6P9A2	GLT18_HUMAN	polypeptide N-acetylgalactosaminyltransferase 18	207	Catalytic subdomain A.				protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										TCCACATATTCGGTCAGCTTC	0.552													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21054	0.0		0.0	False		,,,				2504	0.0																0								C	LYS/GLU	1,4401	2.1+/-5.4	0,1,2200	160.0	129.0	139.0		619	3.2	0.0	11	dbSNP_134	139	0,8588		0,0,4294	no	missense	GALNTL4	NM_198516.2	56	0,1,6494	TT,TC,CC		0.0,0.0227,0.0077	benign	207/608	11400788	1,12989	2201	4294	6495	SO:0001583	missense	0			AK055111	CCDS7807.1	11p15	2014-03-13	2014-03-13	2013-01-25	ENSG00000110328	ENSG00000110328	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	30488	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 18"""	615136	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 4"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18"""	GALNTL4		22186971	Standard	NM_198516		Approved	MGC71806, GALNT15, GalNAc-T18	uc001mjo.2	Q6P9A2	OTTHUMG00000165707	ENST00000227756.4:c.619G>A	11.37:g.11400788C>T	ENSP00000227756:p.Glu207Lys		O95903|Q8NDY9	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.E207K	ENST00000227756.4	37	c.619	CCDS7807.1	11	.	.	.	.	.	.	.	.	.	.	C	6.442	0.449737	0.12223	2.27E-4	0.0	ENSG00000110328	ENST00000227756	T	0.60299	0.2	5.98	3.15	0.36227	Glycosyl transferase, family 2 (1);	0.459195	0.22753	N	0.056046	T	0.36358	0.0964	N	0.20401	0.57	0.31325	N	0.685512	B	0.02656	0.0	B	0.06405	0.002	T	0.25012	-1.0144	10	0.32370	T	0.25	.	5.3044	0.15795	0.0:0.5702:0.1372:0.2926	.	207	Q6P9A2	GLTL4_HUMAN	K	207	ENSP00000227756:E207K	ENSP00000227756:E207K	E	-	1	0	GALNTL4	11357364	0.764000	0.28473	0.007000	0.13788	0.318000	0.28184	1.668000	0.37481	0.443000	0.26582	-0.346000	0.07831	GAA	GALNT18	-	pfam_Glyco_trans_2	ENSG00000110328		0.552	GALNT18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT18	HGNC	protein_coding	OTTHUMT00000385848.1		0.00	20	0	C	NM_198516		11400788	-1			no_errors	ENST00000227756	ensembl	human	known	74_37	missense	8.00	23	2	SNP	0.560	T
GARNL3	84253	genome.wustl.edu	37	9	130152998	130152998	+	Missense_Mutation	SNP	G	G	C			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr9:130152998G>C	ENST00000373387.4	+	27	3174	c.2822G>C	c.(2821-2823)aGc>aCc	p.S941T	GARNL3_ENST00000314904.5_3'UTR|GARNL3_ENST00000435213.2_Missense_Mutation_p.S919T|GARNL3_ENST00000496711.1_3'UTR	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	941					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)|small GTPase regulator activity (GO:0005083)			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						TTAGAAGAAAGCCAAGGAGGC	0.562																																																	0													84.0	97.0	93.0					9																	130152998		2203	4300	6503	SO:0001583	missense	0			BC034983	CCDS6869.2, CCDS69663.1	9q34.13	2009-09-14	2004-08-09		ENSG00000136895	ENSG00000136895			25425	protein-coding gene	gene with protein product			"""GTPase activating RANGAP domain-like 3"""			11230166	Standard	NM_032293		Approved	DKFZp761J1523, bA356B19.1	uc011mae.2	Q5VVW2	OTTHUMG00000020700	ENST00000373387.4:c.2822G>C	9.37:g.130152998G>C	ENSP00000362485:p.Ser941Thr		B4DEP7|B7Z3Q6|Q8IYU1|Q8N951|Q8ND89|Q9BQH6	Missense_Mutation	SNP	pfam_Citron,pfam_Rap_GAP_dom,smart_Citron,pfscan_Rap_GAP_dom	p.S941T	ENST00000373387.4	37	c.2822	CCDS6869.2	9	.	.	.	.	.	.	.	.	.	.	G	13.33	2.204071	0.38905	.	.	ENSG00000136895	ENST00000435213;ENST00000373387	D;D	0.87103	-2.21;-2.21	4.59	-0.969	0.10310	.	0.658250	0.15030	N	0.284497	T	0.70996	0.3288	N	0.19112	0.55	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.51779	-0.8662	9	.	.	.	.	4.0508	0.09795	0.3331:0.3399:0.327:0.0	.	941;919	Q5VVW2;B7Z3Q6	GARL3_HUMAN;.	T	919;941	ENSP00000396205:S919T;ENSP00000362485:S941T	.	S	+	2	0	GARNL3	129192819	0.998000	0.40836	0.994000	0.49952	0.991000	0.79684	0.249000	0.18216	-0.144000	0.11314	0.655000	0.94253	AGC	GARNL3	-	NULL	ENSG00000136895		0.562	GARNL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	GARNL3	HGNC	protein_coding	OTTHUMT00000054151.3	-	0.00	41	0	G	NM_032293		130152998	+1	tier1	-	no_errors	ENST00000373387	ensembl	human	known	74_37	missense	33.33	60	30	SNP	0.993	C
GATA2	2624	genome.wustl.edu	37	3	128204731	128204731	+	Missense_Mutation	SNP	C	C	A	rs191501191	byFrequency	TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr3:128204731C>A	ENST00000341105.2	-	3	1041	c.710G>T	c.(709-711)gGc>gTc	p.G237V	GATA2_ENST00000430265.2_Missense_Mutation_p.G237V|GATA2_ENST00000487848.1_Missense_Mutation_p.G237V	NM_032638.4	NP_116027.2	P23769	GATA2_HUMAN	GATA binding protein 2	237					blood coagulation (GO:0007596)|cell differentiation in hindbrain (GO:0021533)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|central nervous system neuron development (GO:0021954)|commitment of neuronal cell to specific neuron type in forebrain (GO:0021902)|definitive hemopoiesis (GO:0060216)|embryonic placenta development (GO:0001892)|eosinophil fate commitment (GO:0035854)|GABAergic neuron differentiation (GO:0097154)|homeostasis of number of cells within a tissue (GO:0048873)|inner ear morphogenesis (GO:0042472)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phagocytosis (GO:0006909)|pituitary gland development (GO:0021983)|positive regulation of angiogenesis (GO:0045766)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of phagocytosis (GO:0050766)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of forebrain neuron differentiation (GO:2000977)|regulation of histone acetylation (GO:0035065)|semicircular canal development (GO:0060872)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)|urogenital system development (GO:0001655)|ventral spinal cord interneuron differentiation (GO:0021514)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	C2H2 zinc finger domain binding (GO:0070742)|chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1)	79				GBM - Glioblastoma multiforme(114;0.173)		AGGCTGGGTGCCCATAGTAGC	0.632			Mis		AML(CML blast transformation)																																			Dom	yes		3	3q21.3	2624	GATA binding protein 2		L	0													133.0	123.0	126.0					3																	128204731		2203	4300	6503	SO:0001583	missense	0			AF169253	CCDS3049.1, CCDS46903.1	3q21	2014-09-17	2001-11-28		ENSG00000179348	ENSG00000179348		"""GATA zinc finger domain containing"""	4171	protein-coding gene	gene with protein product		137295	"""GATA-binding protein 2"""			1714909	Standard	NM_032638		Approved	NFE1B	uc003eko.2	P23769	OTTHUMG00000159689	ENST00000341105.2:c.710G>T	3.37:g.128204731C>A	ENSP00000345681:p.Gly237Val		D3DNB3|Q53YE0|Q96BH0|Q96BH8|Q9BUJ6	Missense_Mutation	SNP	pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA	p.G237V	ENST00000341105.2	37	c.710	CCDS3049.1	3	.	.	.	.	.	.	.	.	.	.	C	13.47	2.247173	0.39697	.	.	ENSG00000179348	ENST00000341105;ENST00000430265;ENST00000487848	D;D;D	0.97430	-4.38;-4.37;-4.38	4.54	4.54	0.55810	.	0.402536	0.26935	N	0.021750	D	0.96420	0.8832	M	0.61703	1.905	0.80722	D	1	B;B	0.31859	0.343;0.262	B;B	0.38954	0.286;0.119	D	0.96207	0.9150	10	0.44086	T	0.13	-11.1118	16.8689	0.86036	0.0:1.0:0.0:0.0	.	237;237	P23769-2;P23769	.;GATA2_HUMAN	V	237	ENSP00000345681:G237V;ENSP00000400259:G237V;ENSP00000417074:G237V	ENSP00000345681:G237V	G	-	2	0	GATA2	129687421	1.000000	0.71417	1.000000	0.80357	0.661000	0.39034	2.744000	0.47450	2.062000	0.61559	0.484000	0.47621	GGC	GATA2	-	pirsf_TF_GATA-1/2/3	ENSG00000179348		0.632	GATA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GATA2	HGNC	protein_coding	OTTHUMT00000356925.1	-	0.00	39	0	C	NM_032638		128204731	-1	tier1	-	no_errors	ENST00000341105	ensembl	human	known	74_37	missense	14.71	29	5	SNP	0.990	A
GMNC	647309	genome.wustl.edu	37	3	190573557	190573557	+	Missense_Mutation	SNP	C	C	T			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr3:190573557C>T	ENST00000442080.1	-	5	531	c.532G>A	c.(532-534)Gaa>Aaa	p.E178K	GMNC_ENST00000479491.1_5'UTR	NM_001146686.2	NP_001140158.1	A6NCL1	GEMC1_HUMAN	geminin coiled-coil domain containing	178					cell cycle (GO:0007049)|cell proliferation (GO:0008283)|DNA replication initiation (GO:0006270)	nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|endometrium(3)|skin(1)	5						GCTTGTTCTTCACAGTTAGCA	0.463																																																	0													117.0	103.0	107.0					3																	190573557		692	1591	2283	SO:0001583	missense	0			BC031680	CCDS54697.1	3q28	2011-08-19	2011-08-19		ENSG00000205835	ENSG00000205835			40049	protein-coding gene	gene with protein product		614448				20383140, 20855966	Standard	NM_001146686		Approved	GEMC1	uc011bsl.1	A6NCL1	OTTHUMG00000156195	ENST00000442080.1:c.532G>A	3.37:g.190573557C>T	ENSP00000406164:p.Glu178Lys			Missense_Mutation	SNP	NULL	p.E178K	ENST00000442080.1	37	c.532	CCDS54697.1	3	.	.	.	.	.	.	.	.	.	.	C	17.44	3.390866	0.62066	.	.	ENSG00000205835	ENST00000442080	.	.	.	5.48	5.48	0.80851	.	0.062219	0.64402	D	0.000008	T	0.64832	0.2634	M	0.61703	1.905	0.50632	D	0.999884	B	0.34290	0.447	B	0.36845	0.234	T	0.68465	-0.5401	9	0.87932	D	0	-2.1074	18.3387	0.90298	0.0:1.0:0.0:0.0	.	178	A6NCL1	GEMC1_HUMAN	K	178	.	ENSP00000406164:E178K	E	-	1	0	RP11-332P22.1	192056251	1.000000	0.71417	0.980000	0.43619	0.814000	0.46013	1.406000	0.34646	2.588000	0.87417	0.557000	0.71058	GAA	GMNC	-	NULL	ENSG00000205835		0.463	GMNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GMNC	HGNC	protein_coding	OTTHUMT00000343364.1	-	0.00	71	0	C	NM_001146686		190573557	-1	tier1	-	no_errors	ENST00000442080	ensembl	human	known	74_37	missense	45.45	42	35	SNP	1.000	T
GNS	2799	genome.wustl.edu	37	12	65141586	65141586	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr12:65141586G>T	ENST00000258145.3	-	3	535	c.365C>A	c.(364-366)tCc>tAc	p.S122Y	GNS_ENST00000418919.2_Missense_Mutation_p.S66Y|GNS_ENST00000542058.1_Missense_Mutation_p.S102Y|GNS_ENST00000543646.1_Missense_Mutation_p.S154Y	NM_002076.3	NP_002067.1	P15586	GNS_HUMAN	glucosamine (N-acetyl)-6-sulfatase	122					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	metal ion binding (GO:0046872)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)|sulfuric ester hydrolase activity (GO:0008484)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(4)	15	Lung NSC(1;7.25e-14)|all_lung(1;1.25e-12)		LUAD - Lung adenocarcinoma(6;0.115)	GBM - Glioblastoma multiforme(28;0.0435)		CTTCTGCCAGGACTTACTACT	0.448																																																	0													205.0	191.0	196.0					12																	65141586		2203	4300	6503	SO:0001583	missense	0				CCDS8970.1	12q14	2010-05-04	2008-08-01		ENSG00000135677	ENSG00000135677	3.1.6.14		4422	protein-coding gene	gene with protein product	"""Sanfilippo disease IIID"", ""N-acetylglucosamine-6-sulfatase"""	607664					Standard	NM_002076		Approved		uc001ssg.4	P15586	OTTHUMG00000168819	ENST00000258145.3:c.365C>A	12.37:g.65141586G>T	ENSP00000258145:p.Ser122Tyr		B4DYH8|Q53F05	Missense_Mutation	SNP	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core,pirsf_GlcNAc_6-SO4ase	p.S122Y	ENST00000258145.3	37	c.365	CCDS8970.1	12	.	.	.	.	.	.	.	.	.	.	G	8.784	0.928896	0.18131	.	.	ENSG00000135677	ENST00000418919;ENST00000258145;ENST00000543646;ENST00000542058;ENST00000539825;ENST00000545471;ENST00000545273	D;D;D;D;D	0.99895	-4.01;-4.01;-4.01;-4.01;-7.59	5.5	4.59	0.56863	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.404895	0.28521	N	0.015042	D	0.98852	0.9612	N	0.10874	0.06	0.09310	N	0.999996	B;B;B;B	0.12013	0.001;0.005;0.0;0.002	B;B;B;B	0.15052	0.011;0.012;0.009;0.002	D	0.96264	0.9193	9	.	.	.	-13.6085	12.9938	0.58635	0.1222:0.0:0.8778:0.0	.	102;154;122;66	B4DYH8;F6S8M0;P15586;Q7Z3X3	.;.;GNS_HUMAN;.	Y	66;122;154;102;39;59;46	ENSP00000413130:S66Y;ENSP00000258145:S122Y;ENSP00000438497:S154Y;ENSP00000444819:S102Y;ENSP00000445055:S46Y	.	S	-	2	0	GNS	63427853	1.000000	0.71417	0.047000	0.18901	0.198000	0.23893	5.312000	0.65792	2.765000	0.95021	0.650000	0.86243	TCC	GNS	-	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core,pirsf_GlcNAc_6-SO4ase	ENSG00000135677		0.448	GNS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GNS	HGNC	protein_coding	OTTHUMT00000401195.2	-	0.00	48	0	G			65141586	-1	tier1	-	no_errors	ENST00000258145	ensembl	human	known	74_37	missense	5.71	66	4	SNP	0.259	T
GOLGB1	2804	genome.wustl.edu	37	3	121395812	121395812	+	Silent	SNP	G	G	A			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr3:121395812G>A	ENST00000340645.5	-	17	9215	c.9090C>T	c.(9088-9090)ctC>ctT	p.L3030L	GOLGB1_ENST00000393667.3_Silent_p.L3035L	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	3030					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		GCTGGGTCCTGAGAAGTTCTG	0.438																																																	0													135.0	128.0	131.0					3																	121395812		2203	4300	6503	SO:0001819	synonymous_variant	0			X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.9090C>T	3.37:g.121395812G>A			B2ZZ91|D3DN92|E7EP74|Q14398	Silent	SNP	superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo	p.L3030	ENST00000340645.5	37	c.9090	CCDS3004.1	3																																																																																			GOLGB1	-	NULL	ENSG00000173230		0.438	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GOLGB1	HGNC	protein_coding	OTTHUMT00000355159.1	-	0.00	33	0	G	NM_004487		121395812	-1	tier1	-	no_errors	ENST00000340645	ensembl	human	known	74_37	silent	45.21	40	33	SNP	0.986	A
GPANK1	7918	genome.wustl.edu	37	6	31631629	31631629	+	Splice_Site	SNP	C	C	T			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr6:31631629C>T	ENST00000375906.1	-	3	1311		c.e3+1		GPANK1_ENST00000375893.2_Splice_Site|CSNK2B_ENST00000375866.2_5'Flank|CSNK2B_ENST00000375882.2_5'Flank|GPANK1_ENST00000375900.4_Splice_Site|CSNK2B_ENST00000375865.2_5'Flank|Y_RNA_ENST00000364337.1_RNA|GPANK1_ENST00000375896.4_Splice_Site|CSNK2B-LY6G5B-1181_ENST00000375880.2_5'Flank|CSNK2B_ENST00000375885.4_5'Flank|GPANK1_ENST00000375895.2_Splice_Site	NM_001199237.1	NP_001186166.1	O95872	GPAN1_HUMAN	G patch domain and ankyrin repeats 1								nucleic acid binding (GO:0003676)			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(7)	12						TTTCCCCTTACCGGTTTTCCG	0.582																																																	0													116.0	120.0	118.0					6																	31631629		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS4711.1	6p21.3	2013-01-28	2010-11-24	2010-11-24	ENSG00000204438	ENSG00000204438		"""Ankyrin repeat domain containing"", ""G patch domain containing"""	13920	protein-coding gene	gene with protein product	"""G patch domain containing 10"", ""ankyrin repeat domain 59"""	142610	"""HLA-B associated transcript 4"""	BAT4		2911734, 2813433	Standard	NM_001199237		Approved	G5, D6S54E, GPATCH10, ANKRD59	uc021yuu.1	O95872	OTTHUMG00000031174	ENST00000375906.1:c.626+1G>A	6.37:g.31631629C>T			A6NG25|B0UXA2|Q5SQ49	Splice_Site	SNP	-	e1+1	ENST00000375906.1	37	c.626+1	CCDS4711.1	6	.	.	.	.	.	.	.	.	.	.	C	11.08	1.534668	0.27475	.	.	ENSG00000204438	ENST00000375906;ENST00000375896;ENST00000375893;ENST00000375895;ENST00000375900	.	.	.	5.42	5.42	0.78866	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7839	0.69787	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GPANK1	31739608	0.995000	0.38212	1.000000	0.80357	0.094000	0.18550	1.892000	0.39748	2.553000	0.86117	0.556000	0.70494	.	GPANK1	-	-	ENSG00000204438		0.582	GPANK1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GPANK1	HGNC	protein_coding	OTTHUMT00000144445.2	-	0.00	46	0	C	NM_033177	Intron	31631629	-1	tier1	-	no_errors	ENST00000375893	ensembl	human	known	74_37	splice_site	5.13	74	4	SNP	1.000	T
GPATCH8	23131	genome.wustl.edu	37	17	42476757	42476757	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr17:42476757G>T	ENST00000591680.1	-	8	2718	c.2688C>A	c.(2686-2688)gaC>gaA	p.D896E	GPATCH8_ENST00000434000.1_Missense_Mutation_p.D818E	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	896	Ser-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		TGTCACTGTAGTCACTGTAGC	0.493																																																	0													135.0	115.0	122.0					17																	42476757		2203	4300	6503	SO:0001583	missense	0			AB011125	CCDS32666.1	17q21.31	2013-01-28	2006-08-22	2006-12-13	ENSG00000186566	ENSG00000186566		"""G patch domain containing"""	29066	protein-coding gene	gene with protein product		614396	"""KIAA0553"""	KIAA0553, GPATC8		9628581	Standard	NM_001002909		Approved		uc002igw.2	Q9UKJ3	OTTHUMG00000181818	ENST00000591680.1:c.2688C>A	17.37:g.42476757G>T	ENSP00000467556:p.Asp896Glu		B9EGP9|O60300|Q8TB99	Missense_Mutation	SNP	pfam_G_patch_dom,pfam_Znf_C2H2_jaz,smart_G_patch_dom,pfscan_Znf_C2H2,pfscan_G_patch_dom	p.D896E	ENST00000591680.1	37	c.2688	CCDS32666.1	17	.	.	.	.	.	.	.	.	.	.	G	11.21	1.571353	0.28003	.	.	ENSG00000186566	ENST00000335500;ENST00000434000	T	0.13089	2.62	5.21	3.22	0.36961	.	0.052338	0.85682	D	0.000000	T	0.19248	0.0462	L	0.27053	0.805	0.41222	D	0.98651	D	0.76494	0.999	D	0.63192	0.912	T	0.01982	-1.1235	10	0.27785	T	0.31	-21.1676	11.7348	0.51759	0.1449:0.0:0.8551:0.0	.	896	Q9UKJ3	GPTC8_HUMAN	E	896;818	ENSP00000395016:D818E	ENSP00000335486:D896E	D	-	3	2	GPATCH8	39832283	1.000000	0.71417	1.000000	0.80357	0.738000	0.42128	2.400000	0.44504	0.788000	0.33755	-0.291000	0.09656	GAC	GPATCH8	-	NULL	ENSG00000186566		0.493	GPATCH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPATCH8	HGNC	protein_coding	OTTHUMT00000457797.1	-	0.00	45	0	G	NM_001002909		42476757	-1	tier1	-	no_errors	ENST00000591680	ensembl	human	known	74_37	missense	7.46	62	5	SNP	1.000	T
GRIA4	2893	genome.wustl.edu	37	11	105797615	105797615	+	Nonsense_Mutation	SNP	G	G	T			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr11:105797615G>T	ENST00000530497.1	+	12	1996	c.1996G>T	c.(1996-1998)Gaa>Taa	p.E666*	GRIA4_ENST00000525187.1_Nonsense_Mutation_p.E666*|GRIA4_ENST00000393127.2_Nonsense_Mutation_p.E666*|GRIA4_ENST00000282499.5_Nonsense_Mutation_p.E666*			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	666					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)	p.E666K(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)		CAAACAAACAGAAATTGCCTA	0.373																																																	2	Substitution - Missense(2)	skin(2)											78.0	74.0	75.0					11																	105797615		2202	4298	6500	SO:0001587	stop_gained	0			U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4574	protein-coding gene	gene with protein product		138246	"""glutamate receptor, ionotrophic, AMPA 4"""	GLUR4			Standard	NM_001077244		Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.1996G>T	11.37:g.105797615G>T	ENSP00000435775:p.Glu666*		Q86XE8	Nonsense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.E666*	ENST00000530497.1	37	c.1996	CCDS8333.1	11	.	.	.	.	.	.	.	.	.	.	G	43	10.449685	0.99407	.	.	ENSG00000152578	ENST00000282499;ENST00000393127;ENST00000530497;ENST00000525187	.	.	.	5.67	5.67	0.87782	.	0.064524	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	.	20.1421	0.98061	0.0:0.0:1.0:0.0	.	.	.	.	X	666	.	ENSP00000282499:E666X	E	+	1	0	GRIA4	105302825	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.813000	0.99286	2.836000	0.97738	0.655000	0.94253	GAA	GRIA4	-	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt	ENSG00000152578		0.373	GRIA4-005	KNOWN	basic|CCDS	protein_coding	GRIA4	HGNC	protein_coding	OTTHUMT00000388593.1		0.00	28	0	G			105797615	+1			no_errors	ENST00000282499	ensembl	human	known	74_37	nonsense	8.33	22	2	SNP	1.000	T
GRAMD1B	57476	genome.wustl.edu	37	11	123483491	123483491	+	Nonsense_Mutation	SNP	C	C	T			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr11:123483491C>T	ENST00000529750.1	+	14	1840	c.1513C>T	c.(1513-1515)Cga>Tga	p.R505*	GRAMD1B_ENST00000456860.2_Nonsense_Mutation_p.R512*|GRAMD1B_ENST00000450171.2_Nonsense_Mutation_p.R196*|GRAMD1B_ENST00000322282.7_Nonsense_Mutation_p.R505*	NM_020716.1	NP_065767.1	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	505						integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		GCTGCGCTATCGAAAACAGCC	0.532																																																	0													44.0	46.0	45.0					11																	123483491		1938	4135	6073	SO:0001587	stop_gained	0			AB033027	CCDS53720.1, CCDS66253.1, CCDS66254.1	11q24.1	2005-11-02				ENSG00000023171			29214	protein-coding gene	gene with protein product						10574462	Standard	NM_001286564		Approved	KIAA1201	uc001pyx.2	Q3KR37		ENST00000529750.1:c.1513C>T	11.37:g.123483491C>T	ENSP00000436500:p.Arg505*		Q6UW85|Q9ULL9	Nonsense_Mutation	SNP	pfam_GRAM,smart_GRAM	p.R505*	ENST00000529750.1	37	c.1513	CCDS53720.1	11	.	.	.	.	.	.	.	.	.	.	C	42	9.563996	0.99205	.	.	ENSG00000023171	ENST00000539133;ENST00000456860;ENST00000322282;ENST00000529750;ENST00000529432;ENST00000450171	.	.	.	5.42	4.39	0.52855	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.2881	0.60255	0.2348:0.7652:0.0:0.0	.	.	.	.	X	512;512;505;505;465;196	.	ENSP00000325628:R505X	R	+	1	2	GRAMD1B	122988701	0.983000	0.35010	0.749000	0.31150	0.977000	0.68977	2.251000	0.43187	2.699000	0.92147	0.563000	0.77884	CGA	GRAMD1B	-	NULL	ENSG00000023171		0.532	GRAMD1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRAMD1B	HGNC	protein_coding	OTTHUMT00000387404.2	-	0.00	46	0	C	XM_370660		123483491	+1	tier1	-	no_errors	ENST00000322282	ensembl	human	known	74_37	nonsense	74.00	13	37	SNP	0.996	T
GRIK1	2897	genome.wustl.edu	37	21	31015238	31015238	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr21:31015238G>T	ENST00000399907.1	-	7	1417	c.1006C>A	c.(1006-1008)Cac>Aac	p.H336N	GRIK1_ENST00000309434.7_Missense_Mutation_p.H336N|GRIK1_ENST00000389125.3_Missense_Mutation_p.H336N|GRIK1_ENST00000399913.1_Missense_Mutation_p.H336N|GRIK1_ENST00000399914.1_Missense_Mutation_p.H336N|GRIK1_ENST00000389124.2_Missense_Mutation_p.H336N|GRIK1_ENST00000399909.1_Missense_Mutation_p.H336N|GRIK1_ENST00000535441.1_Missense_Mutation_p.H336N|GRIK1_ENST00000327783.4_Missense_Mutation_p.H336N|GRIK1_ENST00000472429.1_5'UTR	NM_000830.3	NP_000821.1	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	336					adult behavior (GO:0030534)|behavioral response to pain (GO:0048266)|central nervous system development (GO:0007417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|nervous system development (GO:0007399)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					Topiramate(DB00273)	GATGCCCGGTGCGAGGCAATG	0.527																																																	0													113.0	95.0	101.0					21																	31015238		2203	4300	6503	SO:0001583	missense	0				CCDS33530.1, CCDS42913.1	21q22	2012-08-29			ENSG00000171189	ENSG00000171189		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4579	protein-coding gene	gene with protein product		138245		GLUR5		8468067	Standard	XM_005260942		Approved	GluK1	uc002yno.1	P39086	OTTHUMG00000078879	ENST00000399907.1:c.1006C>A	21.37:g.31015238G>T	ENSP00000382791:p.His336Asn		Q13001|Q86SU9	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.H336N	ENST00000399907.1	37	c.1006	CCDS42913.1	21	.	.	.	.	.	.	.	.	.	.	G	19.73	3.881789	0.72294	.	.	ENSG00000171189	ENST00000327783;ENST00000389125;ENST00000399913;ENST00000399914;ENST00000535441;ENST00000541508;ENST00000389124;ENST00000399907;ENST00000399909;ENST00000309434	D;D;D;D;D;D;D;D;D	0.81739	-1.53;-1.53;-1.53;-1.53;-1.53;-1.53;-1.53;-1.53;-1.53	5.18	5.18	0.71444	Extracellular ligand-binding receptor (1);	0.053911	0.85682	D	0.000000	T	0.73567	0.3603	N	0.24115	0.695	0.49213	D	0.999764	B;B;B;B;B;B	0.19706	0.038;0.038;0.004;0.038;0.038;0.03	B;B;B;B;B;B	0.29440	0.102;0.102;0.007;0.102;0.102;0.062	T	0.67987	-0.5528	10	0.37606	T	0.19	.	18.478	0.90800	0.0:0.0:1.0:0.0	.	336;336;336;336;336;336	E7EPY9;E9PD61;E7EPZ0;B7Z3V7;P39086;P39086-2	.;.;.;.;GRIK1_HUMAN;.	N	336;336;336;336;336;280;336;336;336;336	ENSP00000327687:H336N;ENSP00000373777:H336N;ENSP00000382797:H336N;ENSP00000382798:H336N;ENSP00000446326:H336N;ENSP00000373776:H336N;ENSP00000382791:H336N;ENSP00000382793:H336N;ENSP00000311646:H336N	ENSP00000311646:H336N	H	-	1	0	GRIK1	29937109	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.172000	0.94808	2.688000	0.91661	0.655000	0.94253	CAC	GRIK1	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I	ENSG00000171189		0.527	GRIK1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIK1	HGNC	protein_coding	OTTHUMT00000171979.1	-	0.00	65	0	G			31015238	-1	tier1	-	no_errors	ENST00000535441	ensembl	human	known	74_37	missense	7.02	53	4	SNP	1.000	T
GRP	2922	genome.wustl.edu	37	18	56892729	56892729	+	Missense_Mutation	SNP	T	T	G			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr18:56892729T>G	ENST00000256857.2	+	2	243	c.145T>G	c.(145-147)Tta>Gta	p.L49V	GRP_ENST00000529320.2_Missense_Mutation_p.L49V|GRP_ENST00000420468.2_Missense_Mutation_p.L49V	NM_001012512.1|NM_002091.3	NP_001012530.1|NP_002082.2	P07492	GRP_HUMAN	gastrin-releasing peptide	49					neuropeptide signaling pathway (GO:0007218)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	neuropeptide hormone activity (GO:0005184)|receptor binding (GO:0005102)	p.L49V(1)		large_intestine(1)|lung(3)	4		Colorectal(73;0.0946)				TACAGGGCACTTAATGGGGAA	0.398																																																	1	Substitution - Missense(1)	large_intestine(1)											71.0	76.0	74.0					18																	56892729		2203	4300	6503	SO:0001583	missense	0				CCDS11971.1, CCDS45877.1, CCDS45878.1	18q21.1-q21.32	2013-02-26			ENSG00000134443	ENSG00000134443		"""Endogenous ligands"""	4605	protein-coding gene	gene with protein product	"""bombesin"", ""neuromedin C"", ""prepro-GRP"""	137260					Standard	NM_002091		Approved		uc002lhv.3	P07492	OTTHUMG00000132760	ENST00000256857.2:c.145T>G	18.37:g.56892729T>G	ENSP00000256857:p.Leu49Val		P07491|P81553|Q14454|Q53YA0|Q9BSY7	Missense_Mutation	SNP	pfam_Bombesin	p.L49V	ENST00000256857.2	37	c.145	CCDS11971.1	18	.	.	.	.	.	.	.	.	.	.	T	17.74	3.464654	0.63513	.	.	ENSG00000134443	ENST00000256857;ENST00000529320;ENST00000420468	T;T;T	0.49139	0.79;0.83;0.81	5.34	0.293	0.15742	.	0.000000	0.47852	D	0.000219	T	0.61540	0.2355	M	0.75264	2.295	0.34874	D	0.743858	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.72625	0.963;0.978;0.963	T	0.67945	-0.5539	10	0.87932	D	0	-5.9503	7.9022	0.29742	0.0:0.36:0.0:0.64	.	49;49;49	P07492-3;P07492;P07492-2	.;GRP_HUMAN;.	V	49	ENSP00000256857:L49V;ENSP00000434101:L49V;ENSP00000389696:L49V	ENSP00000256857:L49V	L	+	1	2	GRP	55043709	0.891000	0.30450	0.945000	0.38365	0.954000	0.61252	0.057000	0.14279	0.039000	0.15632	0.533000	0.62120	TTA	GRP	-	pfam_Bombesin	ENSG00000134443		0.398	GRP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRP	HGNC	protein_coding	OTTHUMT00000256131.2	-	0.00	24	0	T	NM_002091		56892729	+1	tier1	-	no_errors	ENST00000256857	ensembl	human	known	74_37	missense	68.18	14	30	SNP	0.883	G
GSAP	54103	genome.wustl.edu	37	7	76982276	76982276	+	Silent	SNP	C	C	T			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr7:76982276C>T	ENST00000257626.7	-	18	1554	c.1476G>A	c.(1474-1476)gtG>gtA	p.V492V		NM_017439.3	NP_059135.2	A4D1B5	GSAP_HUMAN	gamma-secretase activating protein	492					positive regulation of beta-amyloid formation (GO:1902004)|regulation of proteolysis (GO:0030162)	trans-Golgi network (GO:0005802)	beta-amyloid binding (GO:0001540)										TCCAAGTGAGCACTGAGGAAT	0.383																																																	0													225.0	192.0	203.0					7																	76982276		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS34672.2	7q11.23	2013-04-05	2013-04-05	2013-04-05	ENSG00000186088	ENSG00000186088			28042	protein-coding gene	gene with protein product		613552	"""pigeon homolog (Drosophila)"""	PION		20811458	Standard	NM_017439		Approved	LOC54103	uc003ugf.3	A4D1B5	OTTHUMG00000150504	ENST00000257626.7:c.1476G>A	7.37:g.76982276C>T			A4D1B6|Q3MJC0|Q8ND73|Q9UMH3|Q9Y4L9	Silent	SNP	NULL	p.V492	ENST00000257626.7	37	c.1476	CCDS34672.2	7																																																																																			GSAP	-	NULL	ENSG00000186088		0.383	GSAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSAP	HGNC	protein_coding	OTTHUMT00000318672.2		0.00	24	0	C	NM_017439		76982276	-1			no_errors	ENST00000257626	ensembl	human	known	74_37	silent	8.89	41	4	SNP	0.946	T
GTF3C5	9328	genome.wustl.edu	37	9	135933250	135933250	+	Silent	SNP	G	G	T	rs200561021		TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr9:135933250G>T	ENST00000372097.5	+	11	1766	c.1443G>T	c.(1441-1443)acG>acT	p.T481T	GTF3C5_ENST00000372108.5_Silent_p.T488T|GTF3C5_ENST00000372099.6_Silent_p.T472T|GTF3C5_ENST00000342018.8_Silent_p.T419T	NM_012087.3	NP_036219.2	Q9Y5Q8	TF3C5_HUMAN	general transcription factor IIIC, polypeptide 5, 63kDa	481	Glu-rich.				5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)		AGCAGCTGACGTACGAGTCTG	0.592																																																	0													62.0	50.0	54.0					9																	135933250		2203	4300	6503	SO:0001819	synonymous_variant	0			AF133124	CCDS6958.1, CCDS48050.1, CCDS75927.1	9q34.13	2010-03-23	2002-08-29		ENSG00000148308	ENSG00000148308		"""General transcription factors"""	4668	protein-coding gene	gene with protein product	"""transcription factor IIIC, 63 kD"""	604890	"""general transcription factor IIIC, polypeptide 5 (63kD)"""			10373544	Standard	NM_012087		Approved	TFiiiC2-63, TFIIIC63, TFIIICepsilon	uc004ccj.4	Q9Y5Q8	OTTHUMG00000020856	ENST00000372097.5:c.1443G>T	9.37:g.135933250G>T			A6NI44|A6NJB9|Q5T7U2|Q5T7U3|Q8N2U7|Q8N857|Q96GD9|Q9H4P2	Silent	SNP	pfam_TF_IIIC_su-5	p.T488	ENST00000372097.5	37	c.1464	CCDS6958.1	9																																																																																			GTF3C5	-	NULL	ENSG00000148308		0.592	GTF3C5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF3C5	HGNC	protein_coding	OTTHUMT00000054826.1	-	0.00	48	0	G	NM_001122823		135933250	+1	tier1	-	no_errors	ENST00000372108	ensembl	human	known	74_37	silent	5.97	63	4	SNP	0.000	T
GTPBP2	54676	genome.wustl.edu	37	6	43594099	43594099	+	Nonsense_Mutation	SNP	G	G	A			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr6:43594099G>A	ENST00000307126.5	-	3	261	c.262C>T	c.(262-264)Caa>Taa	p.Q88*	GTPBP2_ENST00000476510.1_5'UTR|GTPBP2_ENST00000307114.7_5'UTR	NM_019096.3	NP_061969.3			GTP binding protein 2											breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000501)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			CACTTCATTTGTGTCACCAGG	0.557																																					GBM(116;405 1620 28302 32150 44768)												0													76.0	68.0	71.0					6																	43594099		2203	4300	6503	SO:0001587	stop_gained	0			AB024574	CCDS4903.1, CCDS69124.1	6p21	2008-07-28			ENSG00000172432	ENSG00000172432			4670	protein-coding gene	gene with protein product		607434				10833435, 11054535	Standard	NM_019096		Approved		uc003ovs.3	Q9BX10	OTTHUMG00000014744	ENST00000307126.5:c.262C>T	6.37:g.43594099G>A	ENSP00000303997:p.Gln88*			Nonsense_Mutation	SNP	pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_B-barrel	p.Q88*	ENST00000307126.5	37	c.262	CCDS4903.1	6	.	.	.	.	.	.	.	.	.	.	G	26.9	4.782152	0.90282	.	.	ENSG00000172432	ENST00000307126;ENST00000452781	.	.	.	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-15.1551	18.7928	0.91982	0.0:0.0:1.0:0.0	.	.	.	.	X	88;80	.	ENSP00000303997:Q88X	Q	-	1	0	GTPBP2	43702077	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	9.563000	0.98148	2.426000	0.82243	0.561000	0.74099	CAA	GTPBP2	-	NULL	ENSG00000172432		0.557	GTPBP2-011	KNOWN	basic|appris_principal|CCDS	protein_coding	GTPBP2	HGNC	protein_coding	OTTHUMT00000040679.1	-	0.00	55	0	G			43594099	-1	tier1	-	no_errors	ENST00000307126	ensembl	human	known	74_37	nonsense	6.15	61	4	SNP	1.000	A
HHIPL2	79802	genome.wustl.edu	37	1	222717196	222717196	+	Silent	SNP	G	G	A			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr1:222717196G>A	ENST00000343410.6	-	2	715	c.657C>T	c.(655-657)ccC>ccT	p.P219P		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	219					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		CCATGGAGACGGGGTTCCTCA	0.637																																																	0													62.0	57.0	59.0					1																	222717196		2203	4300	6503	SO:0001819	synonymous_variant	0			BC007638	CCDS1530.2	1q41	2008-02-05	2008-01-16	2008-01-16	ENSG00000143512	ENSG00000143512			25842	protein-coding gene	gene with protein product			"""KIAA1822-like"""	KIAA1822L		12975309	Standard	NM_024746		Approved	FLJ13840	uc001hnh.1	Q6UWX4	OTTHUMG00000037545	ENST00000343410.6:c.657C>T	1.37:g.222717196G>A			Q6GU65|Q96BT4|Q96BU5|Q9H8A0	Silent	SNP	pfam_Folate_rcpt-like,pfam_Glc/Sorbosone_DH,superfamily_Quinoprot_gluc/sorb_DH,superfamily_Saposin-like	p.P219	ENST00000343410.6	37	c.657	CCDS1530.2	1																																																																																			HHIPL2	-	superfamily_Quinoprot_gluc/sorb_DH	ENSG00000143512		0.637	HHIPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HHIPL2	HGNC	protein_coding	OTTHUMT00000091499.2	-	0.00	52	0	G	NM_024746		222717196	-1	tier1	-	no_errors	ENST00000343410	ensembl	human	known	74_37	silent	10.77	58	7	SNP	0.007	A
HLCS	3141	genome.wustl.edu	37	21	38309059	38309059	+	Missense_Mutation	SNP	A	A	G			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr21:38309059A>G	ENST00000399120.1	-	5	1916	c.686T>C	c.(685-687)cTg>cCg	p.L229P	HLCS_ENST00000336648.4_Missense_Mutation_p.L229P	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	229					biotin metabolic process (GO:0006768)|cell proliferation (GO:0008283)|histone biotinylation (GO:0071110)|histone modification (GO:0016570)|protein biotinylation (GO:0009305)|response to biotin (GO:0070781)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nuclear lamina (GO:0005652)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin-[acetyl-CoA-carboxylase] ligase activity (GO:0004077)|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity (GO:0004078)|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity (GO:0004079)|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity (GO:0004080)|biotin-protein ligase activity (GO:0018271)|enzyme binding (GO:0019899)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	CTTCTGGTACAGGTCTTCGGG	0.537																																																	0													71.0	75.0	74.0					21																	38309059		2203	4300	6503	SO:0001583	missense	0				CCDS13647.1	21q22.1	2012-07-13	2010-04-30		ENSG00000159267	ENSG00000159267	6.3.4.9, 6.3.4.10, 6.3.4.11, 6.3.4.15		4976	protein-coding gene	gene with protein product		609018	"""holocarboxylase synthetase (biotin-[proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)] ligase)"", ""holocarboxylase synthetase (biotin-(proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)) ligase)"""			7842009	Standard	NM_000411		Approved	HCS	uc021wjb.1	P50747	OTTHUMG00000086636	ENST00000399120.1:c.686T>C	21.37:g.38309059A>G	ENSP00000382071:p.Leu229Pro		B2RAH1|D3DSG6|Q99451	Missense_Mutation	SNP	pfam_BPL_LipA_LipB,pfam_BPL_C,tigrfam_Biotin_CoA_COase_ligase	p.L229P	ENST00000399120.1	37	c.686	CCDS13647.1	21	.	.	.	.	.	.	.	.	.	.	A	17.33	3.363449	0.61513	.	.	ENSG00000159267	ENST00000399120;ENST00000336648	D;D	0.98362	-4.89;-4.89	5.91	5.91	0.95273	.	0.523093	0.20513	N	0.090844	D	0.97911	0.9313	M	0.64997	1.995	0.28614	N	0.908507	D;D	0.62365	0.991;0.981	P;P	0.56700	0.804;0.726	D	0.95181	0.8299	10	0.26408	T	0.33	.	11.9385	0.52886	0.8699:0.0:0.0:0.1301	.	229;229	B2RAH1;P50747	.;BPL1_HUMAN	P	229	ENSP00000382071:L229P;ENSP00000338387:L229P	ENSP00000338387:L229P	L	-	2	0	HLCS	37230929	0.299000	0.24426	0.004000	0.12327	0.811000	0.45836	4.484000	0.60271	2.254000	0.74563	0.533000	0.62120	CTG	HLCS	-	NULL	ENSG00000159267		0.537	HLCS-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HLCS	HGNC	protein_coding	OTTHUMT00000194687.2	-	0.00	30	0	A			38309059	-1	tier1	-	no_errors	ENST00000336648	ensembl	human	known	74_37	missense	7.41	50	4	SNP	0.030	G
HNRNPH1	3187	genome.wustl.edu	37	5	179045245	179045245	+	Silent	SNP	G	G	T			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr5:179045245G>T	ENST00000356731.5	-	5	2151	c.616C>A	c.(616-618)Cgg>Agg	p.R206R	HNRNPH1_ENST00000524180.1_5'Flank|HNRNPH1_ENST00000329433.6_Silent_p.R206R|HNRNPH1_ENST00000393432.4_Silent_p.R206R|HNRNPH1_ENST00000442819.2_Silent_p.R206R|HNRNPH1_ENST00000511300.2_5'Flank|HNRNPH1_ENST00000510411.1_Silent_p.R206R			P31943	HNRH1_HUMAN	heterogeneous nuclear ribonucleoprotein H1 (H)	206					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA splicing (GO:0043484)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|skin(1)	14						GGACCTGGCCGCTGCATGGCC	0.478																																																	0													135.0	130.0	132.0					5																	179045245		2203	4300	6503	SO:0001819	synonymous_variant	0			BC001348	CCDS4446.1	5q35.3	2013-02-12		2008-04-18	ENSG00000169045	ENSG00000169045		"""RNA binding motif (RRM) containing"""	5041	protein-coding gene	gene with protein product		601035		HNRPH1		7499401	Standard	NM_005520		Approved	hnRNPH	uc003mkf.5	P31943	OTTHUMG00000130908	ENST00000356731.5:c.616C>A	5.37:g.179045245G>T			B3KW86|D3DWQ2|Q6IBM4	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.S159R	ENST00000356731.5	37	c.477	CCDS4446.1	5	.	.	.	.	.	.	.	.	.	.	g	13.58	2.279207	0.40294	.	.	ENSG00000169045	ENST00000521173;ENST00000508103;ENST00000506721;ENST00000510431	T;T;T	0.35421	1.31;1.31;1.36	5.52	4.65	0.58169	.	.	.	.	.	T	0.49372	0.1553	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45220	-0.9276	5	.	.	.	-0.4994	14.6998	0.69147	0.0:0.0:0.7234:0.2766	.	.	.	.	R	80;159;159;159	ENSP00000425732:S159R;ENSP00000420850:S159R;ENSP00000423140:S159R	.	S	-	3	2	HNRNPH1	178977851	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.448000	0.60027	1.454000	0.47793	0.585000	0.79938	AGC	HNRNPH1	-	NULL	ENSG00000169045		0.478	HNRNPH1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HNRNPH1	HGNC	protein_coding	OTTHUMT00000253497.3		0.00	63	0	G	NM_005520		179045245	-1			no_errors	ENST00000510678	ensembl	human	known	74_37	missense	5.77	49	3	SNP	1.000	T
HOXB9	3219	genome.wustl.edu	37	17	46703145	46703145	+	Missense_Mutation	SNP	C	C	G			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr17:46703145C>G	ENST00000311177.5	-	1	694	c.487G>C	c.(487-489)Gga>Cga	p.G163R	HOXB7_ENST00000567101.2_Intron|HOXB-AS4_ENST00000480386.1_RNA|HOXB9_ENST00000550387.1_Intron	NM_024017.4	NP_076922.1	P17482	HXB9_HUMAN	homeobox B9	163					anterior/posterior pattern specification (GO:0009952)|canonical Wnt signaling pathway (GO:0060070)|cell chemotaxis (GO:0060326)|embryonic skeletal system development (GO:0048706)|mammary gland development (GO:0030879)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(2)|endometrium(1)|large_intestine(1)|liver(1)|lung(6)|prostate(1)	12						TCCTCGCTTCCTTCGCAAATT	0.547																																																	0													63.0	71.0	68.0					17																	46703145		2203	4300	6503	SO:0001583	missense	0				CCDS11534.1	17q21.32	2011-06-20	2005-12-22		ENSG00000170689	ENSG00000170689		"""Homeoboxes / ANTP class : HOXL subclass"""	5120	protein-coding gene	gene with protein product		142964	"""homeo box B9"""	HOX2E, HOX2		1973146, 1358459	Standard	NM_024017		Approved		uc002inx.3	P17482	OTTHUMG00000159907	ENST00000311177.5:c.487G>C	17.37:g.46703145C>G	ENSP00000309439:p.Gly163Arg		B2RDB7|Q9H1I1	Missense_Mutation	SNP	pfam_Hox9_activation_N,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pirsf_Homeobox_Hox9,pfscan_Homeobox_dom,prints_Homeobox_metazoa	p.G163R	ENST00000311177.5	37	c.487	CCDS11534.1	17	.	.	.	.	.	.	.	.	.	.	C	20.2	3.944581	0.73672	.	.	ENSG00000170689	ENST00000311177	D	0.93859	-3.3	4.63	4.63	0.57726	Homeodomain-related (1);Hox9, N-terminal activation domain (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.94515	0.8234	M	0.62723	1.935	0.80722	D	1	P	0.49783	0.928	P	0.54210	0.745	D	0.93543	0.6879	10	0.32370	T	0.25	.	17.4325	0.87543	0.0:1.0:0.0:0.0	.	163	P17482	HXB9_HUMAN	R	163	ENSP00000309439:G163R	ENSP00000309439:G163R	G	-	1	0	HOXB9	44058144	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.328000	0.79160	2.259000	0.74868	0.555000	0.69702	GGA	HOXB9	-	pfam_Hox9_activation_N,superfamily_Homeodomain-like,pirsf_Homeobox_Hox9	ENSG00000170689		0.547	HOXB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXB9	HGNC	protein_coding	OTTHUMT00000358101.2	-	0.00	45	0	C			46703145	-1	tier1	-	no_errors	ENST00000311177	ensembl	human	known	74_37	missense	84.62	6	33	SNP	1.000	G
HRG	3273	genome.wustl.edu	37	3	186395083	186395083	+	Missense_Mutation	SNP	C	C	A			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr3:186395083C>A	ENST00000232003.4	+	7	1069	c.989C>A	c.(988-990)gCc>gAc	p.A330D		NM_000412.2	NP_000403.1	P04196	HRG_HUMAN	histidine-rich glycoprotein	330					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|chemotaxis (GO:0006935)|defense response to fungus (GO:0050832)|fibrinolysis (GO:0042730)|heme export (GO:0097037)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel remodeling (GO:2000504)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of immune response to tumor cell (GO:0002839)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of platelet activation (GO:0010543)|regulation of protein complex assembly (GO:0043254)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|response to organic cyclic compound (GO:0014070)	blood microparticle (GO:0072562)|endolysosome (GO:0036019)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|phagolysosome membrane (GO:0061474)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|heme binding (GO:0020037)|heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)|immunoglobulin binding (GO:0019865)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		TGTCAACATGCCACTTTTGGC	0.502																																																	0													161.0	146.0	151.0					3																	186395083		2203	4300	6503	SO:0001583	missense	0				CCDS3280.1	3q27	2008-07-18			ENSG00000113905	ENSG00000113905			5181	protein-coding gene	gene with protein product	"""histidine-proline rich glycoprotein"", ""thrombophilia due to elevated HRG"""	142640				1678514	Standard	NM_000412		Approved	HRGP, HPRG	uc003fqq.3	P04196	OTTHUMG00000156578	ENST00000232003.4:c.989C>A	3.37:g.186395083C>A	ENSP00000232003:p.Ala330Asp		B9EK35|D3DNU7	Missense_Mutation	SNP	pfam_Prot_inh_cystat,smart_Prot_inh_cystat	p.A330D	ENST00000232003.4	37	c.989	CCDS3280.1	3	.	.	.	.	.	.	.	.	.	.	C	5.706	0.314811	0.10789	.	.	ENSG00000113905	ENST00000232003	T	0.11821	2.74	4.55	-9.1	0.00714	.	2.248160	0.01656	N	0.024848	T	0.04407	0.0121	N	0.08118	0	0.09310	N	1	B	0.23540	0.087	B	0.14578	0.011	T	0.32640	-0.9899	10	0.15066	T	0.55	7.6542	0.8431	0.01154	0.2713:0.1111:0.2522:0.3654	.	330	P04196	HRG_HUMAN	D	330	ENSP00000232003:A330D	ENSP00000232003:A330D	A	+	2	0	HRG	187877777	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.901000	0.04093	-2.970000	0.00286	-1.368000	0.01194	GCC	HRG	-	NULL	ENSG00000113905		0.502	HRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRG	HGNC	protein_coding	OTTHUMT00000344655.1	-	0.00	67	0	C	NM_000412		186395083	+1	tier1	-	no_errors	ENST00000232003	ensembl	human	known	74_37	missense	40.16	73	49	SNP	0.000	A
IFT81	28981	genome.wustl.edu	37	12	110565878	110565878	+	Missense_Mutation	SNP	C	C	T			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr12:110565878C>T	ENST00000242591.5	+	3	678	c.172C>T	c.(172-174)Cca>Tca	p.P58S	IFT81_ENST00000361948.4_Missense_Mutation_p.P58S|IFT81_ENST00000552912.1_Missense_Mutation_p.P58S	NM_014055.3	NP_054774.2	Q8WYA0	IFT81_HUMAN	intraflagellar transport 81	58	CH (calponin-homology)-like region.				cilium assembly (GO:0042384)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|spermatogenesis (GO:0007283)	centrosome (GO:0005813)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)	tubulin binding (GO:0015631)			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)	10						AGAGGAGATGCCAGAGCAGAC	0.358																																																	0													122.0	116.0	118.0					12																	110565878		2203	4300	6503	SO:0001583	missense	0			AF139540	CCDS9142.1, CCDS41831.1	12q24.13	2014-07-03	2014-07-03	2005-11-02		ENSG00000122970		"""Intraflagellar transport homologs"""	14313	protein-coding gene	gene with protein product		605489	"""carnitine deficiency-associated, expressed in ventricle 1"", ""intraflagellar transport 81 homolog (Chlamydomonas)"""	CDV1		11130971	Standard	NM_014055		Approved	CDV-1R, MGC4027	uc001tqi.3	Q8WYA0	OTTHUMG00000169326	ENST00000242591.5:c.172C>T	12.37:g.110565878C>T	ENSP00000242591:p.Pro58Ser		Q2YDY1|Q8NB51|Q9BSV2|Q9UNY8	Missense_Mutation	SNP	NULL	p.P58S	ENST00000242591.5	37	c.172	CCDS41831.1	12	.	.	.	.	.	.	.	.	.	.	C	23.6	4.437577	0.83885	.	.	ENSG00000122970	ENST00000361948;ENST00000552912;ENST00000242591;ENST00000546374	T	0.31510	1.49	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.56292	0.1975	M	0.64567	1.98	0.80722	D	1	D;D	0.89917	0.958;1.0	P;D	0.87578	0.693;0.998	T	0.48779	-0.9005	10	0.46703	T	0.11	-12.368	20.422	0.99049	0.0:1.0:0.0:0.0	.	58;58	Q8WYA0;Q8WYA0-3	IFT81_HUMAN;.	S	58	ENSP00000355372:P58S	ENSP00000242591:P58S	P	+	1	0	IFT81	109050261	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.342000	0.79310	2.832000	0.97577	0.655000	0.94253	CCA	IFT81	-	NULL	ENSG00000122970		0.358	IFT81-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	IFT81	HGNC	protein_coding	OTTHUMT00000403529.1	-	0.00	29	0	C	NM_014055		110565878	+1	tier1	-	no_errors	ENST00000242591	ensembl	human	known	74_37	missense	6.06	93	6	SNP	1.000	T
INHBA	3624	genome.wustl.edu	37	7	41730129	41730129	+	Missense_Mutation	SNP	T	T	C			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr7:41730129T>C	ENST00000242208.4	-	3	646	c.400A>G	c.(400-402)Aag>Gag	p.K134E	INHBA_ENST00000464515.1_5'UTR|INHBA_ENST00000442711.1_Missense_Mutation_p.K134E|AC005027.3_ENST00000416150.1_RNA	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	134					activin receptor signaling pathway (GO:0032924)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to cholesterol (GO:0071397)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|defense response (GO:0006952)|endodermal cell differentiation (GO:0035987)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|eyelid development in camera-type eye (GO:0061029)|G1/S transition of mitotic cell cycle (GO:0000082)|growth (GO:0040007)|hair follicle development (GO:0001942)|hematopoietic progenitor cell differentiation (GO:0002244)|hemoglobin biosynthetic process (GO:0042541)|male gonad development (GO:0008584)|mesodermal cell differentiation (GO:0048333)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of phosphorylation (GO:0042326)|nervous system development (GO:0007399)|odontogenesis (GO:0042476)|ovarian follicle development (GO:0001541)|palate development (GO:0060021)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|positive regulation of ovulation (GO:0060279)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone secretion (GO:0042701)|regulation of follicle-stimulating hormone secretion (GO:0046880)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)	activin A complex (GO:0043509)|extracellular region (GO:0005576)|inhibin A complex (GO:0043512)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|peptide hormone binding (GO:0017046)|type II activin receptor binding (GO:0070699)			biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						TGCAGCGTCTTCCTGGCTGTT	0.488										TSP Lung(11;0.080)																																							0													38.0	34.0	36.0					7																	41730129		2203	4300	6503	SO:0001583	missense	0				CCDS5464.1	7p15-p13	2014-01-30	2007-07-30		ENSG00000122641	ENSG00000122641		"""Endogenous ligands"""	6066	protein-coding gene	gene with protein product		147290	"""inhibin, beta A (activin A, activin AB alpha polypeptide)"""			3345731	Standard	NM_002192		Approved		uc003thr.3	P08476	OTTHUMG00000023574	ENST00000242208.4:c.400A>G	7.37:g.41730129T>C	ENSP00000242208:p.Lys134Glu		Q14599	Missense_Mutation	SNP	pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_betaA,prints_Inhibin_asu	p.K134E	ENST00000242208.4	37	c.400	CCDS5464.1	7	.	.	.	.	.	.	.	.	.	.	.	5.737	0.320361	0.10845	.	.	ENSG00000122641	ENST00000242208;ENST00000442711	T;T	0.64803	-0.12;-0.12	6.06	6.06	0.98353	Transforming growth factor-beta, N-terminal (1);	0.324853	0.38326	N	0.001735	T	0.57140	0.2033	L	0.47716	1.5	0.48632	D	0.999681	B	0.27013	0.166	B	0.28916	0.096	T	0.52704	-0.8540	10	0.19147	T	0.46	-24.9442	16.6093	0.84858	0.0:0.0:0.0:1.0	.	134	P08476	INHBA_HUMAN	E	134	ENSP00000242208:K134E;ENSP00000397197:K134E	ENSP00000242208:K134E	K	-	1	0	INHBA	41696654	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	3.834000	0.55798	2.324000	0.78689	0.533000	0.62120	AAG	INHBA	-	pfam_TGF-b_N	ENSG00000122641		0.488	INHBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INHBA	HGNC	protein_coding	OTTHUMT00000250793.1	-	0.00	27	0	T			41730129	-1	tier1	-	no_errors	ENST00000242208	ensembl	human	known	74_37	missense	37.04	51	30	SNP	1.000	C
INO80D	54891	genome.wustl.edu	37	2	206869709	206869709	+	Missense_Mutation	SNP	A	A	G			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr2:206869709A>G	ENST00000403263.1	-	11	2871	c.2467T>C	c.(2467-2469)Tcc>Ccc	p.S823P	Vault_ENST00000516676.1_RNA	NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	823					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						TGGGGTGAGGAGTGTGAGTGA	0.532																																																	0													283.0	269.0	274.0					2																	206869709		2151	4269	6420	SO:0001583	missense	0				CCDS46500.1	2q33.3	2011-07-06			ENSG00000114933	ENSG00000114933		"""INO80 complex subunits"""	25997	protein-coding gene	gene with protein product						16230350	Standard	NM_017759		Approved	FLJ20309	uc002vaz.4	Q53TQ3	OTTHUMG00000154649	ENST00000403263.1:c.2467T>C	2.37:g.206869709A>G	ENSP00000384198:p.Ser823Pro		B3KU68|B9EG77|Q6PJC6|Q6PJU1|Q6PKA1|Q9NXD5	Missense_Mutation	SNP	NULL	p.S823P	ENST00000403263.1	37	c.2467	CCDS46500.1	2	.	.	.	.	.	.	.	.	.	.	A	11.86	1.765936	0.31228	.	.	ENSG00000114933	ENST00000403263;ENST00000233270	T	0.43294	0.95	5.91	5.91	0.95273	.	0.167986	0.53938	D	0.000045	T	0.34337	0.0894	L	0.27053	0.805	0.58432	D	0.999994	B	0.27559	0.181	B	0.26864	0.074	T	0.12604	-1.0541	10	0.56958	D	0.05	.	16.3483	0.83171	1.0:0.0:0.0:0.0	.	823	Q53TQ3-2	.	P	823	ENSP00000384198:S823P	ENSP00000233270:S823P	S	-	1	0	INO80D	206577954	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	5.698000	0.68302	2.254000	0.74563	0.533000	0.62120	TCC	INO80D	-	NULL	ENSG00000114933		0.532	INO80D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INO80D	HGNC	protein_coding	OTTHUMT00000336459.1	-	0.00	29	0	A	NM_017759		206869709	-1	tier1	-	no_errors	ENST00000403263	ensembl	human	known	74_37	missense	38.24	21	13	SNP	1.000	G
IP6K2	51447	genome.wustl.edu	37	3	48726155	48726155	+	Silent	SNP	G	G	T			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr3:48726155G>T	ENST00000328631.5	-	6	1055	c.832C>A	c.(832-834)Cgg>Agg	p.R278R	NCKIPSD_ENST00000294129.2_5'Flank|NCKIPSD_ENST00000416649.2_5'Flank|NCKIPSD_ENST00000341520.4_5'Flank	NM_001005909.2|NM_016291.3	NP_001005909.1|NP_057375.2	Q9UHH9	IP6K2_HUMAN	inositol hexakisphosphate kinase 2	278					cytokine-mediated signaling pathway (GO:0019221)|inositol phosphate metabolic process (GO:0043647)|negative regulation of cell growth (GO:0030308)|phosphate ion transport (GO:0006817)|phosphatidylinositol phosphorylation (GO:0046854)|positive regulation of apoptotic process (GO:0043065)|small molecule metabolic process (GO:0044281)|type I interferon signaling pathway (GO:0060337)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	15						GATAGCTTCCGTCCATGGTAC	0.567																																																	0													107.0	98.0	101.0					3																	48726155		2203	4300	6503	SO:0001819	synonymous_variant	0			AF177145	CCDS2777.1, CCDS33752.1, CCDS54579.1, CCDS54580.1, CCDS54581.1	3p21.31	2009-01-05	2009-01-05	2008-12-22	ENSG00000068745	ENSG00000068745			17313	protein-coding gene	gene with protein product		606992	"""inositol hexaphosphate kinase 2"""	IHPK2		10574768	Standard	NM_016291		Approved		uc003cup.3	Q9UHH9	OTTHUMG00000133543	ENST00000328631.5:c.832C>A	3.37:g.48726155G>T			A8K3B1|B4E3G6|G8JLL6|Q6P0N8|Q9BSZ6|Q9BUW3|Q9H4P7|Q9NT63|Q9UFU6	Silent	SNP	pfam_IPK	p.R278	ENST00000328631.5	37	c.832	CCDS2777.1	3																																																																																			IP6K2	-	pfam_IPK	ENSG00000068745		0.567	IP6K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IP6K2	HGNC	protein_coding	OTTHUMT00000257521.2		0.00	67	0	G	NM_016291		48726155	-1			no_errors	ENST00000328631	ensembl	human	known	74_37	silent	5.26	72	4	SNP	1.000	T
IQCJ-SCHIP1	100505385	genome.wustl.edu	37	3	159606665	159606665	+	Silent	SNP	C	C	T	rs138619287		TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr3:159606665C>T	ENST00000460298.1	+	6	1372	c.1131C>T	c.(1129-1131)acC>acT	p.T377T	IQCJ-SCHIP1_ENST00000527095.1_Silent_p.T185T|SCHIP1_ENST00000482804.1_Silent_p.T190T|IQCJ-SCHIP1_ENST00000337808.6_Silent_p.T417T|IQCJ-SCHIP1_ENST00000412423.2_Silent_p.T404T|IQCJ-SCHIP1_ENST00000485419.1_Silent_p.T493T|IQCJ-SCHIP1_ENST00000476809.1_Silent_p.T466T|SCHIP1_ENST00000445224.2_Silent_p.T174T					IQCJ-SCHIP1 readthrough											central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7)	12						TAAAACCCACCGACCTGAGAG	0.403																																																	0													152.0	140.0	144.0					3																	159606665		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS56289.1, CCDS56291.1	3q25.33	2011-03-24			ENSG00000250588	ENSG00000250588			38842	other	readthrough							Standard	NM_001197113		Approved		uc003fcq.2		OTTHUMG00000162426	ENST00000460298.1:c.1131C>T	3.37:g.159606665C>T				Silent	SNP	pfam_SCHIP_1	p.T493	ENST00000460298.1	37	c.1479		3																																																																																			IQCJ-SCHIP1	-	pfam_SCHIP_1	ENSG00000250588		0.403	IQCJ-SCHIP1-011	PUTATIVE	basic|exp_conf	protein_coding	IQCJ-SCHIP1	HGNC	protein_coding	OTTHUMT00000352558.2	-	0.00	24	0	C	NM_001197113		159606665	+1	tier1	-	no_errors	ENST00000485419	ensembl	human	known	74_37	silent	48.35	46	44	SNP	0.099	T
ITPKB	3707	genome.wustl.edu	37	1	226923246	226923246	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr1:226923246G>T	ENST00000272117.3	-	1	1913	c.1914C>A	c.(1912-1914)gaC>gaA	p.D638E	ITPKB_ENST00000429204.1_Missense_Mutation_p.D638E|ITPKB_ENST00000366784.1_Missense_Mutation_p.D638E			P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	638					cell surface receptor signaling pathway (GO:0007166)|inositol phosphate metabolic process (GO:0043647)|MAPK cascade (GO:0000165)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of Ras protein signal transduction (GO:0046579)|positive thymic T cell selection (GO:0045059)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				GTTTCTGCTGGTCCAGGGTAT	0.522																																					Colon(84;110 1851 5306 33547)												0													119.0	115.0	116.0					1																	226923246		2203	4300	6503	SO:0001583	missense	0			AJ242780	CCDS1555.1	1q42.12	2011-04-28	2011-04-28		ENSG00000143772	ENSG00000143772	2.7.1.127		6179	protein-coding gene	gene with protein product		147522	"""inositol 1,4,5-trisphosphate 3-kinase B"""			1654894, 1330886	Standard	NM_002221		Approved	IP3KB, IP3-3KB	uc010pvo.2	P27987	OTTHUMG00000037582	ENST00000272117.3:c.1914C>A	1.37:g.226923246G>T	ENSP00000272117:p.Asp638Glu		Q5VWL9|Q5VWM0|Q96BZ2|Q96JS1|Q9UH47	Missense_Mutation	SNP	pfam_IPK	p.D638E	ENST00000272117.3	37	c.1914	CCDS1555.1	1	.	.	.	.	.	.	.	.	.	.	G	15.08	2.725915	0.48833	.	.	ENSG00000143772	ENST00000272117;ENST00000429204;ENST00000366784	T;T;T	0.41065	1.81;1.81;1.01	5.77	3.86	0.44501	.	0.222293	0.46758	N	0.000269	T	0.17280	0.0415	N	0.08118	0	0.32219	N	0.575538	P	0.42409	0.779	B	0.38655	0.278	T	0.14008	-1.0488	10	0.07813	T	0.8	-33.4557	6.7788	0.23634	0.0707:0.1288:0.6674:0.1331	.	638	P27987	IP3KB_HUMAN	E	638	ENSP00000272117:D638E;ENSP00000411152:D638E;ENSP00000355748:D638E	ENSP00000272117:D638E	D	-	3	2	ITPKB	224989869	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.731000	0.38135	1.566000	0.49654	-0.169000	0.13324	GAC	ITPKB	-	NULL	ENSG00000143772		0.522	ITPKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPKB	HGNC	protein_coding	OTTHUMT00000091632.1	-	0.00	31	0	G	NM_002221		226923246	-1	tier1	-	no_errors	ENST00000272117	ensembl	human	known	74_37	missense	7.41	50	4	SNP	1.000	T
KAL1	3730	genome.wustl.edu	37	X	8536274	8536274	+	Splice_Site	SNP	G	G	T			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chrX:8536274G>T	ENST00000262648.3	-	8	1355	c.1206C>A	c.(1204-1206)aaC>aaA	p.N402K		NM_000216.2	NP_000207.2	P23352	KALM_HUMAN	Kallmann syndrome 1 sequence	402					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						GTCACTTACTGTTGTTGGTTG	0.448																																																	0													178.0	103.0	128.0					X																	8536274		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS14130.1	Xp22.32	2013-02-11			ENSG00000011201	ENSG00000011201		"""WAP four-disulfide core domain containing"", ""Fibronectin type III domain containing"""	6211	protein-coding gene	gene with protein product	"""anosmin-1"", ""WAP four-disulfide core domain 19"""	300836		KAL, ADMLX		11463336	Standard	NM_000216		Approved	KALIG-1, WFDC19	uc004csf.3	P23352	OTTHUMG00000021107	ENST00000262648.3:c.1207+1C>A	X.37:g.8536274G>T			B2RPF8	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_WAP-type_4-diS_core,superfamily_Fibronectin_type3,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,smart_Fibronectin_type3,pfscan_Fibronectin_type3,prints_WAP-type_4-diS_core	p.N402K	ENST00000262648.3	37	c.1206	CCDS14130.1	X	.	.	.	.	.	.	.	.	.	.	G	4.905	0.168193	0.09339	.	.	ENSG00000011201	ENST00000262648	T	0.74002	-0.8	3.78	0.0677	0.14367	.	0.833558	0.10708	N	0.643187	T	0.66137	0.2759	L	0.51422	1.61	0.23685	N	0.997119	B	0.20988	0.05	B	0.26517	0.07	T	0.56751	-0.7927	10	0.46703	T	0.11	-18.2387	6.8266	0.23887	0.6:0.0:0.4:0.0	.	402	P23352	KALM_HUMAN	K	402	ENSP00000262648:N402K	ENSP00000262648:N402K	N	-	3	2	KAL1	8496274	0.796000	0.28864	0.567000	0.28434	0.368000	0.29767	0.527000	0.22987	0.036000	0.15547	0.536000	0.68110	AAC	KAL1	-	NULL	ENSG00000011201		0.448	KAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KAL1	HGNC	protein_coding	OTTHUMT00000055692.1		0.00	14	0	G	NM_000216	Missense_Mutation	8536274	-1			no_errors	ENST00000262648	ensembl	human	known	74_37	missense	5.26	54	3	SNP	0.825	T
KCNU1	157855	genome.wustl.edu	37	8	36694412	36694412	+	Silent	SNP	G	G	T			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr8:36694412G>T	ENST00000399881.3	+	14	1504	c.1467G>T	c.(1465-1467)gtG>gtT	p.V489V		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	489	Segment S7.				multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		GCTGTTTGGTGCCAGGCTTGT	0.428																																																	0													185.0	184.0	185.0					8																	36694412		1882	4108	5990	SO:0001819	synonymous_variant	0			BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.1467G>T	8.37:g.36694412G>T				Silent	SNP	pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_Ca-activ_BK_asu	p.V489	ENST00000399881.3	37	c.1467	CCDS55220.1	8																																																																																			KCNU1	-	pfam_K_chnl_Ca-activ_BK_asu,prints_K_chnl_Ca-activ_BK_asu	ENSG00000215262		0.428	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	KCNU1	HGNC	protein_coding	OTTHUMT00000376631.1	-	0.00	37	0	G	NM_001031836		36694412	+1	tier1	-	no_errors	ENST00000399881	ensembl	human	known	74_37	silent	7.55	49	4	SNP	0.935	T
KDM6B	23135	genome.wustl.edu	37	17	7754804	7754804	+	Missense_Mutation	SNP	C	C	A			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr17:7754804C>A	ENST00000448097.2	+	16	4284	c.3953C>A	c.(3952-3954)cCa>cAa	p.P1318Q	KDM6B_ENST00000254846.5_Missense_Mutation_p.P1318Q			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	1318					cardiac muscle cell differentiation (GO:0055007)|cellular response to hydrogen peroxide (GO:0070301)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|mesodermal cell differentiation (GO:0048333)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						AGCAGCGCACCAGACCCGAAG	0.592																																																	0													116.0	109.0	111.0					17																	7754804		2203	4300	6503	SO:0001583	missense	0			AB002344	CCDS32552.1	17p13.1	2011-07-01	2009-04-17	2009-04-17		ENSG00000132510		"""Chromatin-modifying enzymes / K-demethylases"""	29012	protein-coding gene	gene with protein product		611577	"""jumonji domain containing 3"", ""jumonji domain containing 3, histone lysine demethylase"""	JMJD3		10662545, 9205841	Standard	NM_001080424		Approved	KIAA0346	uc002giw.1	O15054		ENST00000448097.2:c.3953C>A	17.37:g.7754804C>A	ENSP00000412513:p.Pro1318Gln		C9IZ40|Q96G33	Missense_Mutation	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.P1318Q	ENST00000448097.2	37	c.3953		17	.	.	.	.	.	.	.	.	.	.	C	13.78	2.338335	0.41398	.	.	ENSG00000132510	ENST00000254846;ENST00000448097	T;T	0.73469	-0.75;-0.75	5.24	5.24	0.73138	.	0.280861	0.34245	N	0.004122	T	0.73110	0.3545	L	0.46157	1.445	0.40929	D	0.984376	P;D	0.55172	0.457;0.97	P;P	0.45506	0.476;0.483	T	0.75720	-0.3219	10	0.48119	T	0.1	-2.4451	18.473	0.90781	0.0:1.0:0.0:0.0	.	1318;1318	O15054;O15054-1	KDM6B_HUMAN;.	Q	1318	ENSP00000254846:P1318Q;ENSP00000412513:P1318Q	ENSP00000254846:P1318Q	P	+	2	0	KDM6B	7695529	0.015000	0.18098	0.921000	0.36526	0.912000	0.54170	1.563000	0.36364	2.834000	0.97654	0.650000	0.86243	CCA	KDM6B	-	NULL	ENSG00000132510		0.592	KDM6B-002	KNOWN	basic	protein_coding	KDM6B	HGNC	protein_coding	OTTHUMT00000440248.1		0.00	73	0	C	XM_043272		7754804	+1			no_errors	ENST00000254846	ensembl	human	known	74_37	missense	6.25	60	4	SNP	0.996	A
KIAA0141	9812	genome.wustl.edu	37	5	141309600	141309600	+	Silent	SNP	C	C	A	rs138552747		TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr5:141309600C>A	ENST00000432126.2	+	6	752	c.618C>A	c.(616-618)tcC>tcA	p.S206S	KIAA0141_ENST00000194118.4_Silent_p.S206S	NM_001142603.1|NM_014773.3	NP_001136075.1|NP_055588.3	Q14154	DELE_HUMAN	KIAA0141	206					extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)	mitochondrion (GO:0005739)		p.S206S(1)		endometrium(3)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(3)	16		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCATCGAGTCCGAGGCAAAAC	0.542																																																	1	Substitution - coding silent(1)	skin(1)											85.0	86.0	86.0					5																	141309600		2203	4300	6503	SO:0001819	synonymous_variant	0			BC011269	CCDS4268.1	5q31	2011-05-05			ENSG00000081791	ENSG00000081791			28969	protein-coding gene	gene with protein product	"""death ligand signal enhancer"""	615741				20563667	Standard	XM_005268549		Approved	DELE	uc003llt.3	Q14154	OTTHUMG00000129662	ENST00000432126.2:c.618C>A	5.37:g.141309600C>A			Q969R4|Q96EU9	Silent	SNP	pfam_Sel1-like,smart_Sel1-like	p.S206	ENST00000432126.2	37	c.618	CCDS4268.1	5																																																																																			KIAA0141	-	NULL	ENSG00000081791		0.542	KIAA0141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0141	HGNC	protein_coding	OTTHUMT00000251863.2		0.00	49	0	C	NM_014773		141309600	+1			no_errors	ENST00000194118	ensembl	human	known	74_37	silent	5.26	36	2	SNP	0.009	A
KIAA0922	23240	genome.wustl.edu	37	4	154504393	154504393	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr4:154504393G>T	ENST00000409663.3	+	10	996	c.944G>T	c.(943-945)tGg>tTg	p.W315L	KIAA0922_ENST00000409959.3_Missense_Mutation_p.W315L|KIAA0922_ENST00000440693.1_Missense_Mutation_p.W315L	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	315						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				AGCCTTATATGGATACAGGTA	0.308																																																	0													81.0	92.0	88.0					4																	154504393		2201	4295	6496	SO:0001583	missense	0			AK096538	CCDS3783.2, CCDS47148.1	4q31.3	2008-02-05			ENSG00000121210	ENSG00000121210			29146	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_015196		Approved	DKFZp586H1322, TMEM131L	uc010ipp.3	A2VDJ0	OTTHUMG00000153244	ENST00000409663.3:c.944G>T	4.37:g.154504393G>T	ENSP00000386574:p.Trp315Leu		B3KRV3|Q7LGA7|Q86Y92|Q8WU56|Q9H065|Q9Y2D7	Missense_Mutation	SNP	pfam_DUF3651_TMEM131	p.W315L	ENST00000409663.3	37	c.944	CCDS3783.2	4	.	.	.	.	.	.	.	.	.	.	G	13.92	2.382040	0.42207	.	.	ENSG00000121210	ENST00000409663;ENST00000440693;ENST00000409959;ENST00000240487	T;T;T;T	0.16073	2.62;2.37;2.62;2.37	6.02	6.02	0.97574	.	0.320592	0.35407	N	0.003229	T	0.17831	0.0428	L	0.27053	0.805	0.24371	N	0.994834	D;B;B	0.63046	0.992;0.095;0.116	P;B;B	0.55161	0.77;0.03;0.05	T	0.17077	-1.0381	10	0.11485	T	0.65	-12.3223	9.377	0.38290	0.1178:0.0:0.8822:0.0	.	315;315;315	A2VDJ0-3;A2VDJ0-5;A2VDJ0	.;.;T131L_HUMAN	L	315;315;315;176	ENSP00000386574:W315L;ENSP00000409663:W315L;ENSP00000386787:W315L;ENSP00000240487:W176L	ENSP00000240487:W176L	W	+	2	0	KIAA0922	154723843	1.000000	0.71417	0.998000	0.56505	0.965000	0.64279	3.387000	0.52501	2.865000	0.98341	0.655000	0.94253	TGG	KIAA0922	-	pfam_DUF3651_TMEM131	ENSG00000121210		0.308	KIAA0922-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIAA0922	HGNC	protein_coding	OTTHUMT00000330370.1		0.00	19	0	G	NM_015196		154504393	+1			no_errors	ENST00000409959	ensembl	human	known	74_37	missense	5.71	66	4	SNP	0.999	T
KIAA1377	57562	genome.wustl.edu	37	11	101829032	101829032	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr11:101829032G>T	ENST00000263468.8	+	5	910	c.640G>T	c.(640-642)Gtg>Ttg	p.V214L	KIAA1377_ENST00000537689.1_Missense_Mutation_p.V15L	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	214										breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		TAGCAAAAATGTGTTCCAGCT	0.323																																																	0													136.0	146.0	143.0					11																	101829032		2203	4299	6502	SO:0001583	missense	0			AK095004	CCDS31658.1	11q22.2	2006-02-03			ENSG00000110318	ENSG00000110318			29264	protein-coding gene	gene with protein product		614634				10718198	Standard	XM_005271627		Approved		uc001pgm.3	Q9P2H0	OTTHUMG00000167319	ENST00000263468.8:c.640G>T	11.37:g.101829032G>T	ENSP00000263468:p.Val214Leu		Q4G0U6	Missense_Mutation	SNP	NULL	p.V214L	ENST00000263468.8	37	c.640	CCDS31658.1	11	.	.	.	.	.	.	.	.	.	.	G	5.898	0.349788	0.11182	.	.	ENSG00000110318	ENST00000263468;ENST00000537689	T;T	0.05786	3.39;3.39	5.68	1.29	0.21616	.	1.138710	0.06635	N	0.759990	T	0.04182	0.0116	L	0.31207	0.915	0.09310	N	1	B	0.13594	0.008	B	0.14578	0.011	T	0.47787	-0.9090	10	0.12430	T	0.62	0.1199	0.9805	0.01435	0.2747:0.2324:0.3504:0.1425	.	214	Q9P2H0	K1377_HUMAN	L	214;15	ENSP00000263468:V214L;ENSP00000443184:V15L	ENSP00000263468:V214L	V	+	1	0	KIAA1377	101334242	0.300000	0.24435	0.632000	0.29296	0.932000	0.56968	0.585000	0.23879	0.763000	0.33175	0.650000	0.86243	GTG	KIAA1377	-	NULL	ENSG00000110318		0.323	KIAA1377-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1377	HGNC	protein_coding	OTTHUMT00000394140.1	-	0.00	33	0	G	NM_020802		101829032	+1	tier1	-	no_errors	ENST00000263468	ensembl	human	known	74_37	missense	6.78	55	4	SNP	0.003	T
KIAA1407	57577	genome.wustl.edu	37	3	113724645	113724645	+	Missense_Mutation	SNP	T	T	G			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr3:113724645T>G	ENST00000295878.3	-	10	1724	c.1578A>C	c.(1576-1578)gaA>gaC	p.E526D	KIAA1407_ENST00000545063.1_Missense_Mutation_p.E357D	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	526										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						GTTGAGAGGGTTCAGCACCCA	0.542																																																	0													181.0	181.0	181.0					3																	113724645		2203	4300	6503	SO:0001583	missense	0			AF509494	CCDS2977.1	3q13.31	2005-01-10			ENSG00000163617	ENSG00000163617			29272	protein-coding gene	gene with protein product						10718198	Standard	NM_020817		Approved		uc003eax.3	Q8NCU4	OTTHUMG00000159337	ENST00000295878.3:c.1578A>C	3.37:g.113724645T>G	ENSP00000295878:p.Glu526Asp		B4DYL1|Q9P2E0	Missense_Mutation	SNP	NULL	p.E526D	ENST00000295878.3	37	c.1578	CCDS2977.1	3	.	.	.	.	.	.	.	.	.	.	T	13.64	2.298974	0.40694	.	.	ENSG00000163617	ENST00000295878;ENST00000545063;ENST00000491000	T;T;T	0.49720	1.39;0.77;0.77	5.23	0.286	0.15710	.	0.573860	0.18826	N	0.130135	T	0.48484	0.1502	M	0.67953	2.075	0.09310	N	1	P;P;P	0.49559	0.925;0.925;0.873	P;P;P	0.49597	0.616;0.616;0.461	T	0.43718	-0.9374	10	0.22109	T	0.4	.	9.1775	0.37120	0.0:0.6029:0.0:0.3971	.	513;402;526	C9JA89;B4DIZ9;Q8NCU4	.;.;K1407_HUMAN	D	526;357;513	ENSP00000295878:E526D;ENSP00000446381:E357D;ENSP00000418099:E513D	ENSP00000295878:E526D	E	-	3	2	KIAA1407	115207335	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.363000	0.07593	-0.136000	0.11475	-0.242000	0.12053	GAA	KIAA1407	-	NULL	ENSG00000163617		0.542	KIAA1407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1407	HGNC	protein_coding	OTTHUMT00000354724.2	-	0.00	30	0	T	NM_020817		113724645	-1	tier1	-	no_errors	ENST00000295878	ensembl	human	known	74_37	missense	33.96	35	18	SNP	0.000	G
KIAA1467	57613	genome.wustl.edu	37	12	13211471	13211471	+	Missense_Mutation	SNP	G	G	T	rs117039796	byFrequency	TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr12:13211471G>T	ENST00000197268.8	+	3	640	c.520G>T	c.(520-522)Ggg>Tgg	p.G174W		NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467	174						integral component of membrane (GO:0016021)		p.G174W(1)		NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		GTCAAGGAACGGGAGTGCAGT	0.493																																																	1	Substitution - Missense(1)	lung(1)											364.0	324.0	338.0					12																	13211471		2203	4300	6503	SO:0001583	missense	0			AB040900	CCDS31750.1	12p13.1	2006-01-23				ENSG00000084444			29288	protein-coding gene	gene with protein product						10819331	Standard	XM_005253450		Approved		uc001rbi.3	A2RU67		ENST00000197268.8:c.520G>T	12.37:g.13211471G>T	ENSP00000197268:p.Gly174Trp		Q49AF2|Q5CZ81|Q6ZUV7|Q9P261	Missense_Mutation	SNP	superfamily_Quinonprotein_ADH-like_supfam	p.G174W	ENST00000197268.8	37	c.520	CCDS31750.1	12	.	.	.	.	.	.	.	.	.	.	G	16.66	3.186035	0.57909	.	.	ENSG00000084444	ENST00000197268	T	0.58060	0.36	4.92	4.0	0.46444	Quinonprotein alcohol dehydrogenase-like (1);	0.577624	0.19150	N	0.121464	T	0.61223	0.2330	L	0.57536	1.79	0.31598	N	0.653089	D	0.67145	0.996	P	0.56700	0.804	T	0.66164	-0.5992	10	0.38643	T	0.18	-17.4886	12.578	0.56375	0.0:0.1669:0.8331:0.0	.	174	A2RU67	K1467_HUMAN	W	174	ENSP00000197268:G174W	ENSP00000197268:G174W	G	+	1	0	KIAA1467	13102738	0.902000	0.30710	0.320000	0.25306	0.020000	0.10135	1.356000	0.34079	1.249000	0.43950	0.655000	0.94253	GGG	KIAA1467	-	superfamily_Quinonprotein_ADH-like_supfam	ENSG00000084444		0.493	KIAA1467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1467	HGNC	protein_coding	OTTHUMT00000401007.1		0.00	50	0	G	NM_020853		13211471	+1			no_errors	ENST00000197268	ensembl	human	known	74_37	missense	5.41	70	4	SNP	0.851	T
KLHL1	57626	genome.wustl.edu	37	13	70681794	70681794	+	Missense_Mutation	SNP	T	T	A			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr13:70681794T>A	ENST00000377844.4	-	1	797	c.38A>T	c.(37-39)cAc>cTc	p.H13L	KLHL1_ENST00000545028.1_5'UTR|ATXN8OS_ENST00000414504.2_RNA|ATXN8OS_ENST00000424524.1_RNA	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	13					actin cytoskeleton organization (GO:0030036)|adult walking behavior (GO:0007628)|cerebellar Purkinje cell layer development (GO:0021680)|dendrite development (GO:0016358)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	actin binding (GO:0003779)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		TCGCAGAATGTGCTTCACATC	0.617																																																	0													24.0	28.0	26.0					13																	70681794		2203	4299	6502	SO:0001583	missense	0			AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361		"""Kelch-like"", ""BTB/POZ domain containing"""	6352	protein-coding gene	gene with protein product	"""Kelch-like protein 1"", ""Mayven-related protein 2"""	605332	"""kelch (Drosophila)-like 1"", ""kelch-like 1 (Drosophila)"""			10888605	Standard	NM_020866		Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.38A>T	13.37:g.70681794T>A	ENSP00000367075:p.His13Leu		A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Missense_Mutation	SNP	pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like	p.H13L	ENST00000377844.4	37	c.38	CCDS9445.1	13	.	.	.	.	.	.	.	.	.	.	T	19.77	3.888975	0.72524	.	.	ENSG00000150361	ENST00000377844	T	0.72615	-0.67	5.28	5.28	0.74379	.	0.000000	0.56097	D	0.000038	T	0.63780	0.2540	L	0.44542	1.39	0.80722	D	1	B;P	0.35328	0.023;0.495	B;B	0.33750	0.01;0.169	T	0.67948	-0.5538	10	0.72032	D	0.01	.	13.784	0.63099	0.0:0.0:0.0:1.0	.	13;13	Q8TBJ7;Q9NR64	.;KLHL1_HUMAN	L	13	ENSP00000367075:H13L	ENSP00000367075:H13L	H	-	2	0	KLHL1	69579795	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.216000	0.65246	1.982000	0.57802	0.533000	0.62120	CAC	KLHL1	-	NULL	ENSG00000150361		0.617	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL1	HGNC	protein_coding	OTTHUMT00000045231.3	-	0.00	59	0	T	NM_020866		70681794	-1	tier1	-	no_errors	ENST00000377844	ensembl	human	known	74_37	missense	9.38	58	6	SNP	1.000	A
KLK5	25818	genome.wustl.edu	37	19	51446942	51446942	+	Missense_Mutation	SNP	G	G	A	rs568810143	byFrequency	TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr19:51446942G>A	ENST00000336334.3	-	6	1179	c.827C>T	c.(826-828)aCg>aTg	p.T276M	KLK5_ENST00000593428.1_Missense_Mutation_p.T276M|KLK5_ENST00000391809.2_Missense_Mutation_p.T276M	NM_012427.4	NP_036559	Q9Y337	KLK5_HUMAN	kallikrein-related peptidase 5	276	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				epidermis development (GO:0008544)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)	epidermal lamellar body (GO:0097209)|extracellular space (GO:0005615)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.T276M(1)		NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)		GCAGAGGTTCGTGTAGACACC	0.612													G|||	2	0.000399361	0.0015	0.0	5008	,	,		16085	0.0		0.0	False		,,,				2504	0.0																1	Substitution - Missense(1)	endometrium(1)											155.0	133.0	140.0					19																	51446942		2203	4300	6503	SO:0001583	missense	0			AF135028	CCDS12810.1	19q13.33	2008-02-05	2006-10-27			ENSG00000167754		"""Kallikreins"""	6366	protein-coding gene	gene with protein product		605643	"""kallikrein 5"""			10514489, 10608802, 1680072, 4, 16800723, 17012259	Standard	NM_012427		Approved	SCTE, KLK-L2	uc002puf.3	Q9Y337		ENST00000336334.3:c.827C>T	19.37:g.51446942G>A	ENSP00000337733:p.Thr276Met		Q53ZR3|Q9HBG8	Missense_Mutation	SNP	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.T276M	ENST00000336334.3	37	c.827	CCDS12810.1	19	.	.	.	.	.	.	.	.	.	.	g	16.13	3.037042	0.54896	.	.	ENSG00000167754	ENST00000336334;ENST00000391809	D;D	0.95205	-3.64;-3.64	3.92	3.92	0.45320	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.32753	U	0.005692	D	0.97626	0.9222	M	0.92122	3.275	0.45621	D	0.998555	D	0.89917	1.0	D	0.97110	1.0	D	0.98389	1.0562	10	0.87932	D	0	.	13.4587	0.61214	0.0:0.0:1.0:0.0	.	276	Q9Y337	KLK5_HUMAN	M	276	ENSP00000337733:T276M;ENSP00000375685:T276M	ENSP00000337733:T276M	T	-	2	0	KLK5	56138754	1.000000	0.71417	1.000000	0.80357	0.253000	0.25986	5.725000	0.68507	2.010000	0.58986	0.549000	0.68633	ACG	KLK5	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000167754		0.612	KLK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLK5	HGNC	protein_coding	OTTHUMT00000465057.1		0.00	57	0	G	NM_012427		51446942	-1			no_errors	ENST00000336334	ensembl	human	known	74_37	missense	6.67	42	3	SNP	1.000	A
KLLN	100144748	genome.wustl.edu	37	10	89622062	89622063	+	Frame_Shift_Ins	INS	-	-	A	rs569894367		TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr10:89622062_89622063insA	ENST00000445946.3	-	1	1131_1132	c.182_183insT	c.(181-183)ttcfs	p.F61fs	PTEN_ENST00000371953.3_5'Flank	NM_001126049.1	NP_001119521.1	B2CW77	KILIN_HUMAN	killin, p53-regulated DNA replication inhibitor	61					apoptotic process (GO:0006915)|cell cycle (GO:0007049)	nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)	1						ACCTCCTTCGGAAAGTAGTTCC	0.579																																																	0																																										SO:0001589	frameshift_variant	0				CCDS44454.1	10q23	2011-02-18	2011-02-18		ENSG00000227268	ENSG00000227268			37212	protein-coding gene	gene with protein product		612105				18385383	Standard	NM_001126049		Approved	killin	uc009xti.3	B2CW77		ENST00000445946.3:c.183dupT	10.37:g.89622065_89622065dupA	ENSP00000392204:p.Phe61fs			Frame_Shift_Ins	INS	NULL	p.R62fs	ENST00000445946.3	37	c.183_182	CCDS44454.1	10																																																																																			KLLN	-	NULL	ENSG00000227268		0.579	KLLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLLN	HGNC	protein_coding	OTTHUMT00000473179.1		0.00	61	0	-	NM_001126049		89622063	-1	tier1		no_errors	ENST00000445946	ensembl	human	known	74_37	frame_shift_ins	39.53	52	34	INS	0.988:0.999	A
KMT2C	58508	genome.wustl.edu	37	7	151860113	151860113	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr7:151860113G>T	ENST00000262189.6	-	43	10767	c.10549C>A	c.(10549-10551)Cct>Act	p.P3517T	KMT2C_ENST00000355193.2_Missense_Mutation_p.P3517T	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	3517					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										GGTGAATCAGGAACAAATGAA	0.468																																																	0													127.0	131.0	130.0					7																	151860113		2203	4300	6503	SO:0001583	missense	0			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.10549C>A	7.37:g.151860113G>T	ENSP00000262189:p.Pro3517Thr		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.P3517T	ENST00000262189.6	37	c.10549	CCDS5931.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.507|9.507	1.104723|1.104723	0.20632|0.20632	.|.	.|.	ENSG00000055609|ENSG00000055609	ENST00000262189;ENST00000355193;ENST00000424877|ENST00000360104	D;D;D|.	0.89810|.	-1.94;-1.89;-2.57|.	5.51|5.51	2.74|2.74	0.32292|0.32292	.|.	0.301023|.	0.23534|.	N|.	0.047160|.	T|T	0.60766|0.60766	0.2294|0.2294	M|M	0.61703|0.61703	1.905|1.905	0.80722|0.80722	D|D	1|1	B;B;B|.	0.30686|.	0.265;0.29;0.29|.	B;B;B|.	0.37091|.	0.079;0.159;0.241|.	T|T	0.54316|0.54316	-0.8312|-0.8312	10|5	0.32370|.	T|.	0.25|.	.|.	8.7848|8.7848	0.34814|0.34814	0.1355:0.1246:0.7399:0.0|0.1355:0.1246:0.7399:0.0	.|.	3517;2578;3517|.	Q8NEZ4;Q8NEZ4-2;Q8NEZ4-3|.	MLL3_HUMAN;.;.|.	T|Y	3517;3517;103|1022	ENSP00000262189:P3517T;ENSP00000347325:P3517T;ENSP00000410411:P103T|.	ENSP00000262189:P3517T|.	P|S	-|-	1|2	0|0	MLL3|MLL3	151491046|151491046	1.000000|1.000000	0.71417|0.71417	0.046000|0.046000	0.18839|0.18839	0.902000|0.902000	0.53008|0.53008	2.921000|2.921000	0.48852|0.48852	0.297000|0.297000	0.22615|0.22615	0.655000|0.655000	0.94253|0.94253	CCT|TCC	KMT2C	-	NULL	ENSG00000055609		0.468	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KMT2C	HGNC	protein_coding	OTTHUMT00000318887.3	-	0.00	49	0	G			151860113	-1	tier1	-	no_errors	ENST00000355193	ensembl	human	known	74_37	missense	7.14	52	4	SNP	0.974	T
KRT27	342574	genome.wustl.edu	37	17	38938651	38938651	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr17:38938651G>T	ENST00000301656.3	-	1	135	c.95C>A	c.(94-96)gCt>gAt	p.A32D		NM_181537.3	NP_853515.2			keratin 27											NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21		Breast(137;0.000812)				TGTGTTTCCAGCCCCAAAGCC	0.602																																																	0													61.0	57.0	59.0					17																	38938651		2203	4300	6503	SO:0001583	missense	0			AJ564206	CCDS11375.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000171446	ENSG00000171446		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30841	protein-coding gene	gene with protein product			"""keratin 25C"""	KRT25C		16831889	Standard	NM_181537		Approved		uc002hvg.3	Q7Z3Y8	OTTHUMG00000133371	ENST00000301656.3:c.95C>A	17.37:g.38938651G>T	ENSP00000301656:p.Ala32Asp			Missense_Mutation	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_I	p.A32D	ENST00000301656.3	37	c.95	CCDS11375.1	17	.	.	.	.	.	.	.	.	.	.	G	13.09	2.134097	0.37630	.	.	ENSG00000171446	ENST00000301656	D	0.83506	-1.73	5.25	4.23	0.50019	.	0.194339	0.36555	N	0.002540	T	0.80110	0.4563	M	0.64404	1.975	0.18873	N	0.999987	B	0.29590	0.25	B	0.34452	0.183	T	0.73375	-0.4002	10	0.62326	D	0.03	.	7.7016	0.28625	0.0982:0.2692:0.6326:0.0	.	32	Q7Z3Y8	K1C27_HUMAN	D	32	ENSP00000301656:A32D	ENSP00000301656:A32D	A	-	2	0	KRT27	36192177	0.000000	0.05858	0.420000	0.26596	0.022000	0.10575	-0.332000	0.07904	1.229000	0.43630	0.655000	0.94253	GCT	KRT27	-	NULL	ENSG00000171446		0.602	KRT27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT27	HGNC	protein_coding	OTTHUMT00000257216.1	-	0.00	51	0	G	NM_181537		38938651	-1	tier1	-	no_errors	ENST00000301656	ensembl	human	known	74_37	missense	10.00	36	4	SNP	0.179	T
L1CAM	3897	genome.wustl.edu	37	X	153130278	153130278	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chrX:153130278G>T	ENST00000370060.1	-	23	3233	c.3044C>A	c.(3043-3045)tCt>tAt	p.S1015Y	L1CAM_ENST00000361981.3_Missense_Mutation_p.S1010Y|L1CAM_ENST00000370057.3_Missense_Mutation_p.S1015Y|L1CAM_ENST00000543994.1_Missense_Mutation_p.S1017Y|L1CAM_ENST00000538883.1_Missense_Mutation_p.S1017Y|L1CAM_ENST00000370055.1_Missense_Mutation_p.S1010Y|L1CAM_ENST00000361699.4_Missense_Mutation_p.S1015Y	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	1015	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CAGCTTACCAGACAAGGCCAT	0.637																																																	0													97.0	92.0	94.0					X																	153130278		2203	4300	6503	SO:0001583	missense	0			M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	6470	protein-coding gene	gene with protein product		308840	"""antigen identified by monoclonal antibody R1"""	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.3044C>A	X.37:g.153130278G>T	ENSP00000359077:p.Ser1015Tyr		A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.S1017Y	ENST00000370060.1	37	c.3050	CCDS14733.1	X	.	.	.	.	.	.	.	.	.	.	G	11.91	1.779146	0.31502	.	.	ENSG00000198910	ENST00000370060;ENST00000543994;ENST00000370057;ENST00000538883;ENST00000361981;ENST00000370055;ENST00000361699	T;T;T;T;T;T;T	0.60797	0.16;0.17;0.16;0.17;0.19;0.19;0.16	5.17	3.35	0.38373	.	0.654962	0.14185	N	0.335777	T	0.34193	0.0889	N	0.08118	0	0.09310	N	1	B;B;B	0.23249	0.082;0.014;0.049	B;B;B	0.25614	0.062;0.039;0.028	T	0.19095	-1.0316	10	0.40728	T	0.16	.	5.9572	0.19279	0.2405:0.0:0.7595:0.0	.	1010;1015;1015	G3XAF4;P32004-2;P32004	.;.;L1CAM_HUMAN	Y	1015;1017;1015;1017;1010;1010;1015	ENSP00000359077:S1015Y;ENSP00000438430:S1017Y;ENSP00000359074:S1015Y;ENSP00000439645:S1017Y;ENSP00000354712:S1010Y;ENSP00000359072:S1010Y;ENSP00000355380:S1015Y	ENSP00000355380:S1015Y	S	-	2	0	L1CAM	152783472	0.003000	0.15002	0.172000	0.22920	0.634000	0.38068	1.108000	0.31123	0.942000	0.37525	0.529000	0.55759	TCT	L1CAM	-	NULL	ENSG00000198910		0.637	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	L1CAM	HGNC	protein_coding	OTTHUMT00000061094.2	-	0.00	65	0	G	NM_024003		153130278	-1	tier1	-	no_errors	ENST00000543994	ensembl	human	known	74_37	missense	5.88	64	4	SNP	0.077	T
LAMB4	22798	genome.wustl.edu	37	7	107696189	107696189	+	Missense_Mutation	SNP	C	C	A			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr7:107696189C>A	ENST00000388781.3	-	25	3726	c.3643G>T	c.(3643-3645)Gca>Tca	p.A1215S	LAMB4_ENST00000388780.3_Missense_Mutation_p.A1215S|LAMB4_ENST00000205386.4_Missense_Mutation_p.A1215S	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1215	Domain II.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TTGAAGTCTGCCTCACAGACA	0.448																																																	0													78.0	78.0	78.0					7																	107696189		2203	4300	6503	SO:0001583	missense	0			AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"""Laminins"""	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.3643G>T	7.37:g.107696189C>A	ENSP00000373433:p.Ala1215Ser		A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N	p.A1215S	ENST00000388781.3	37	c.3643	CCDS34732.1	7	.	.	.	.	.	.	.	.	.	.	C	8.656	0.899491	0.17686	.	.	ENSG00000091128	ENST00000205386;ENST00000388781;ENST00000422975;ENST00000388780	T;T;T;T	0.32753	1.44;1.44;1.97;1.55	5.02	2.27	0.28462	.	0.620952	0.13277	N	0.400087	T	0.14098	0.0341	N	0.24115	0.695	0.09310	N	0.999999	B;P	0.35077	0.203;0.483	B;B	0.29524	0.103;0.057	T	0.20009	-1.0288	10	0.06365	T	0.9	.	6.6745	0.23085	0.0:0.4866:0.0:0.5134	.	1215;1215	A4D0S4-3;A4D0S4	.;LAMB4_HUMAN	S	1215;1215;241;1215	ENSP00000205386:A1215S;ENSP00000373433:A1215S;ENSP00000416562:A241S;ENSP00000373432:A1215S	ENSP00000205386:A1215S	A	-	1	0	LAMB4	107483425	0.186000	0.23225	0.099000	0.21106	0.972000	0.66771	0.521000	0.22893	0.317000	0.23160	0.655000	0.94253	GCA	LAMB4	-	NULL	ENSG00000091128		0.448	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMB4	HGNC	protein_coding	OTTHUMT00000337442.1	-	0.00	61	0	C	XM_209857		107696189	-1	tier1	-	no_errors	ENST00000205386	ensembl	human	known	74_37	missense	8.89	41	4	SNP	0.079	A
LAMC3	10319	genome.wustl.edu	37	9	133967312	133967313	+	3'UTR	INS	-	-	CC	rs386416363		TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr9:133967312_133967313insCC	ENST00000361069.4	+	0	4999_5000				LAMC3_ENST00000480883.1_3'UTR	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3						astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		GTGGATAGTCACTCCCTGCCGA	0.594																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"""Laminins"""	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.*139->CC	9.37:g.133967312_133967313insCC			B1APX9|B1APY0|Q59H72	RNA	INS	-	NULL	ENST00000361069.4	37	NULL	CCDS6938.1	9																																																																																			LAMC3	-	-	ENSG00000050555		0.594	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMC3	HGNC	protein_coding	OTTHUMT00000054717.3		0.00	21	0	-	NM_006059		133967313	+1	tier1		no_errors	ENST00000462567	ensembl	human	known	74_37	rna	17.65	14	3	INS	0.001:0.000	CC
LEPR	3953	genome.wustl.edu	37	1	66031227	66031227	+	Splice_Site	SNP	A	A	G			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr1:66031227A>G	ENST00000349533.6	+	3	165		c.e3-1		LEPR_ENST00000371060.3_Splice_Site|LEPR_ENST00000371059.3_Splice_Site|LEPR_ENST00000344610.8_Splice_Site|LEPR_ENST00000371058.1_5'Flank|LEPR_ENST00000462765.1_Splice_Site|LEPR_ENST00000406510.3_Splice_Site	NM_002303.5	NP_002294.2	O15243	OBRG_HUMAN	leptin receptor						negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		TACCTTTTCCAGGTGTACTTC	0.313																																																	0													142.0	129.0	133.0					1																	66031227		2202	4300	6502	SO:0001630	splice_region_variant	0			U43168	CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1	1p31	2014-09-17			ENSG00000116678	ENSG00000116678		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6554	protein-coding gene	gene with protein product		601007				8548812, 8812446	Standard	NM_001003680		Approved	OBR, CD295	uc001dci.3	P48357	OTTHUMG00000009115	ENST00000349533.6:c.-20-1A>G	1.37:g.66031227A>G			Q6FHL5	Splice_Site	SNP	-	e1-2	ENST00000349533.6	37	c.1-2	CCDS631.1	1																																																																																			LEPR	-	-	ENSG00000116678		0.313	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LEPR	HGNC	protein_coding	OTTHUMT00000025275.1	-	0.00	48	0	A	NM_002303	Intron	66031227	+1	tier1	-	no_errors	ENST00000349533	ensembl	human	known	74_37	splice_site	52.46	57	64	SNP	0.996	G
LGALSL	29094	genome.wustl.edu	37	2	64683535	64683535	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr2:64683535G>T	ENST00000238875.5	+	4	765	c.311G>T	c.(310-312)gGg>gTg	p.G104V	LGALSL_ENST00000409537.2_Intron|AC008074.3_ENST00000441630.1_RNA	NM_014181.2	NP_054900.2	Q3ZCW2	LEGL_HUMAN	lectin, galactoside-binding-like	104	Galectin. {ECO:0000255|PROSITE- ProRule:PRU00639}.					intracellular (GO:0005622)	carbohydrate binding (GO:0030246)										TGTATATCTGGGGAGAGGGGT	0.527																																																	0													172.0	179.0	177.0					2																	64683535		2203	4300	6503	SO:0001583	missense	0			AF161508	CCDS1877.1	2p14	2011-08-15			ENSG00000119862	ENSG00000119862			25012	protein-coding gene	gene with protein product	"""galectin-related protein"""					11042152, 16682780	Standard	NM_014181		Approved	HSPC159, GRP	uc002scy.4	Q3ZCW2	OTTHUMG00000129541	ENST00000238875.5:c.311G>T	2.37:g.64683535G>T	ENSP00000238875:p.Gly104Val		B2RBG8|D6W5E8|Q6P5T6|Q9P005	Missense_Mutation	SNP	pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD	p.G104V	ENST00000238875.5	37	c.311	CCDS1877.1	2	.	.	.	.	.	.	.	.	.	.	G	25.2	4.615924	0.87359	.	.	ENSG00000119862	ENST00000238875	T	0.08193	3.12	5.78	5.78	0.91487	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.40909	0.1136	M	0.90870	3.155	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.48246	-0.9052	10	0.87932	D	0	-16.7742	20.0203	0.97492	0.0:0.0:1.0:0.0	.	104	Q3ZCW2	LEGL_HUMAN	V	104	ENSP00000238875:G104V	ENSP00000238875:G104V	G	+	2	0	AC008074.1	64537039	1.000000	0.71417	0.450000	0.26969	0.990000	0.78478	7.370000	0.79589	2.730000	0.93505	0.655000	0.94253	GGG	LGALSL	-	pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD	ENSG00000119862		0.527	LGALSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGALSL	HGNC	protein_coding	OTTHUMT00000251731.2		0.00	53	0	G	NM_014181		64683535	+1			no_errors	ENST00000238875	ensembl	human	known	74_37	missense	5.26	72	4	SNP	1.000	T
LIMK2	3985	genome.wustl.edu	37	22	31661933	31661933	+	Splice_Site	SNP	C	C	A			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr22:31661933C>A	ENST00000331728.4	+	8	970	c.856C>A	c.(856-858)Cgc>Agc	p.R286S	LIMK2_ENST00000406516.1_Splice_Site_p.R208S|LIMK2_ENST00000444929.2_Splice_Site_p.R40S|LIMK2_ENST00000340552.4_Splice_Site_p.R265S|LIMK2_ENST00000333611.4_Splice_Site_p.R265S	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN	LIM domain kinase 2	286					phosphorylation (GO:0016310)|spermatogenesis (GO:0007283)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)	p.R286C(1)|p.R265C(1)		endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						CATCTTCAGGCGCAGTAACAG	0.562																																																	2	Substitution - Missense(2)	endometrium(2)											80.0	79.0	79.0					22																	31661933		2203	4300	6503	SO:0001630	splice_region_variant	0			D45906	CCDS13891.1, CCDS13892.1, CCDS33637.1	22q12	2005-01-21			ENSG00000182541	ENSG00000182541			6614	protein-coding gene	gene with protein product		601988				8537403, 10591208	Standard	NM_005569		Approved		uc003akh.3	P53671	OTTHUMG00000151251	ENST00000331728.4:c.855-1C>A	22.37:g.31661933C>A			A8K6H5|Q7KZ80|Q7L3H5|Q96E10|Q99464|Q9UFU0	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Znf_LIM,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_PDZ,smart_Znf_LIM,smart_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_LIM,pfscan_PDZ,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R286S	ENST00000331728.4	37	c.856	CCDS13891.1	22	.	.	.	.	.	.	.	.	.	.	C	20.4	3.975856	0.74360	.	.	ENSG00000182541	ENST00000406516;ENST00000444929;ENST00000331728;ENST00000436394;ENST00000333611;ENST00000340552	T;T;T;T;T	0.74737	-0.87;-0.75;-0.72;-0.78;-0.84	4.99	4.99	0.66335	.	0.053857	0.85682	D	0.000000	D	0.84889	0.5572	M	0.67953	2.075	0.80722	D	1	P;D;D;P;D	0.69078	0.929;0.994;0.993;0.77;0.997	P;P;D;B;D	0.76071	0.702;0.806;0.982;0.283;0.987	D	0.85396	0.1128	10	0.51188	T	0.08	-17.4242	17.626	0.88095	0.0:1.0:0.0:0.0	.	318;265;40;286;208	F5GY29;Q7L3H5;E7EUC1;P53671;B5MC51	.;.;.;LIMK2_HUMAN;.	S	208;40;286;318;265;265	ENSP00000384602:R208S;ENSP00000409522:R40S;ENSP00000332687:R286S;ENSP00000330470:R265S;ENSP00000339916:R265S	ENSP00000332687:R286S	R	+	1	0	LIMK2	29991933	1.000000	0.71417	0.998000	0.56505	0.385000	0.30292	1.764000	0.38471	2.479000	0.83701	0.411000	0.27672	CGC	LIMK2	-	NULL	ENSG00000182541		0.562	LIMK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIMK2	HGNC	protein_coding	OTTHUMT00000321911.1		0.00	43	0	C	NM_016733	Missense_Mutation	31661933	+1			no_errors	ENST00000331728	ensembl	human	known	74_37	missense	5.13	37	2	SNP	1.000	A
LIPJ	142910	genome.wustl.edu	37	10	90365400	90365400	+	Missense_Mutation	SNP	C	C	A			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr10:90365400C>A	ENST00000371939.3	+	10	1120	c.806C>A	c.(805-807)tCt>tAt	p.S269Y		NM_001010939.2	NP_001010939.2	Q5W064	LIPJ_HUMAN	lipase, family member J	269					lipid catabolic process (GO:0016042)		hydrolase activity, acting on ester bonds (GO:0016788)	p.S269Y(1)		large_intestine(4)|lung(4)|ovary(1)	9		all_cancers(4;2.79e-10)|Prostate(4;1.68e-15)|all_epithelial(4;1.43e-09)|Colorectal(252;0.0381)|Breast(4;0.141)|Melanoma(5;0.2)|all_hematologic(4;0.222)		Colorectal(12;1.02e-05)|COAD - Colon adenocarcinoma(12;1.54e-05)		CTTTTAAATTCTACTCATTTG	0.353																																																	1	Substitution - Missense(1)	large_intestine(1)											91.0	92.0	91.0					10																	90365400		2203	4300	6503	SO:0001583	missense	0			BC031219	CCDS31240.1	10q23.31	2008-02-04	2008-02-04	2007-02-27	ENSG00000204022	ENSG00000204022			21773	protein-coding gene	gene with protein product		613921	"""lipase-like, ab-hydrolase domain containing 1"", ""lipase, family member J"""	LIPL1			Standard	NM_001010939		Approved	bA425M17.2	uc001kff.3	Q5W064	OTTHUMG00000018691	ENST00000371939.3:c.806C>A	10.37:g.90365400C>A	ENSP00000361007:p.Ser269Tyr		A8MT98|Q0P671	Missense_Mutation	SNP	pfam_AB_hydrolase_lipase,pfam_AB_hydrolase_1	p.S269Y	ENST00000371939.3	37	c.806	CCDS31240.1	10	.	.	.	.	.	.	.	.	.	.	C	11.80	1.746262	0.30955	.	.	ENSG00000204022	ENST00000371939;ENST00000531458	T;T	0.72725	-0.68;-0.68	3.69	2.74	0.32292	Alpha/beta hydrolase fold-1 (1);	0.508491	0.16724	N	0.202147	T	0.75324	0.3834	M	0.79693	2.465	0.09310	N	1	P	0.35628	0.513	B	0.43838	0.433	T	0.67933	-0.5542	10	0.56958	D	0.05	-12.348	10.1134	0.42576	0.2021:0.7979:0.0:0.0	.	269	Q5W064	LIPJ_HUMAN	Y	269;84	ENSP00000361007:S269Y;ENSP00000434211:S84Y	ENSP00000361007:S269Y	S	+	2	0	LIPJ	90355380	0.377000	0.25106	0.052000	0.19188	0.011000	0.07611	2.640000	0.46579	0.830000	0.34757	0.643000	0.83706	TCT	LIPJ	-	pfam_AB_hydrolase_1	ENSG00000204022		0.353	LIPJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIPJ	HGNC	protein_coding	OTTHUMT00000049248.2		0.00	15	0	C	XM_084377		90365400	+1			no_errors	ENST00000371939	ensembl	human	known	74_37	missense	8.33	33	3	SNP	0.079	A
LMAN1L	79748	genome.wustl.edu	37	15	75115035	75115035	+	Missense_Mutation	SNP	C	C	T			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr15:75115035C>T	ENST00000309664.5	+	11	1323	c.1184C>T	c.(1183-1185)gCc>gTc	p.A395V	LMAN1L_ENST00000379709.3_Missense_Mutation_p.A383V|RP11-414J4.2_ENST00000564823.1_RNA	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	395						integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CTGCTCCAGGCCCTGCAAGAG	0.587																																																	0													50.0	50.0	50.0					15																	75115035		2197	4296	6493	SO:0001583	missense	0			AF303398	CCDS10270.1	15q24.1	2005-08-05			ENSG00000140506	ENSG00000140506			6632	protein-coding gene	gene with protein product		609548				11255007	Standard	NM_021819		Approved	ERGL, ERGIC-53L	uc002ayt.1	Q9HAT1	OTTHUMG00000142813	ENST00000309664.5:c.1184C>T	15.37:g.75115035C>T	ENSP00000310431:p.Ala395Val		Q6UWN2	Missense_Mutation	SNP	pfam_Lectin_leg,superfamily_ConA-like_lec_gl_sf	p.A395V	ENST00000309664.5	37	c.1184	CCDS10270.1	15	.	.	.	.	.	.	.	.	.	.	C	10.88	1.475135	0.26511	.	.	ENSG00000140506	ENST00000309664;ENST00000379709	T;T	0.39592	1.1;1.07	4.85	1.37	0.22104	.	1.222890	0.05894	N	0.628699	T	0.32526	0.0832	L	0.38175	1.15	0.24552	N	0.994012	P;P	0.40476	0.718;0.596	B;B	0.38500	0.275;0.142	T	0.20907	-1.0261	10	0.30078	T	0.28	.	6.4753	0.22033	0.3458:0.536:0.1182:0.0	.	383;395	Q9HAT1-3;Q9HAT1	.;LMA1L_HUMAN	V	395;383	ENSP00000310431:A395V;ENSP00000369031:A383V	ENSP00000310431:A395V	A	+	2	0	LMAN1L	72902088	0.902000	0.30710	0.891000	0.34965	0.087000	0.18053	0.502000	0.22594	0.173000	0.19788	0.462000	0.41574	GCC	LMAN1L	-	NULL	ENSG00000140506		0.587	LMAN1L-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	LMAN1L	HGNC	protein_coding	OTTHUMT00000286397.4	-	0.00	46	0	C			75115035	+1	tier1	-	no_errors	ENST00000309664	ensembl	human	known	74_37	missense	12.33	64	9	SNP	0.917	T
CCDC192	728586	genome.wustl.edu	37	5	127090028	127090028	+	lincRNA	SNP	G	G	T			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr5:127090028G>T	ENST00000514853.2	+	0	239																											AGATTTGCCTGAAAGAAGCAG	0.408																																																	0																																												0																															5.37:g.127090028G>T				RNA	SNP	-	NULL	ENST00000514853.2	37	NULL		5																																																																																			CTC-228N24.1	-	-	ENSG00000230561		0.408	CTC-228N24.1-001	KNOWN	not_organism_supported|basic	lincRNA	LOC728586	Clone_based_vega_gene	lincRNA	OTTHUMT00000372464.3	-	0.00	33	0	G			127090028	+1	tier1	-	no_errors	ENST00000514853	ensembl	human	known	74_37	rna	8.89	41	4	SNP	0.949	T
RPL36	25873	genome.wustl.edu	37	19	5693716	5693716	+	IGR	SNP	G	G	T			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr19:5693716G>T	ENST00000577222.1	+	0	874				LONP1_ENST00000540670.2_Missense_Mutation_p.D599E|LONP1_ENST00000590729.1_Missense_Mutation_p.D665E|LONP1_ENST00000593119.1_Missense_Mutation_p.D731E|LONP1_ENST00000360614.3_Missense_Mutation_p.D795E|LONP1_ENST00000585374.1_Missense_Mutation_p.D681E			Q9Y3U8	RL36_HUMAN	ribosomal protein L36						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|upper_aerodigestive_tract(1)	2						TGCCATCCTTGTCACCCTTGG	0.612																																																	0													123.0	90.0	101.0					19																	5693716		2203	4300	6503	SO:0001628	intergenic_variant	0				CCDS12147.1	19p13.2	2011-04-06				ENSG00000130255		"""L ribosomal proteins"""	13631	protein-coding gene	gene with protein product							Standard	NM_033643		Approved	DKFZp566B023, L36	uc002mcv.3	Q9Y3U8			19.37:g.5693716G>T			B2R4Y1|D6W634|Q6FIG1|Q9UQF6	Missense_Mutation	SNP	pfam_Pept_S16_C,pfam_Pept_S16_N,pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-2,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_Prk_AAA_dom,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_P-loop_NTPase,superfamily_PUA-like_domain,smart_Pept_S16_N,smart_AAA+_ATPase,tigrfam_Lon_bac/euk-typ	p.D795E	ENST00000577222.1	37	c.2385	CCDS12147.1	19	.	.	.	.	.	.	.	.	.	.	G	7.918	0.737932	0.15574	.	.	ENSG00000196365	ENST00000360614;ENST00000358403;ENST00000540670	T;T	0.20598	2.38;2.06	4.35	2.1	0.27182	Ribosomal protein S5 domain 2-type fold (1);Peptidase S16, Lon C-terminal (1);	0.443807	0.20576	N	0.089630	T	0.08492	0.0211	N	0.12611	0.24	0.33669	D	0.61072	B;B;B	0.17465	0.0;0.022;0.001	B;B;B	0.29440	0.003;0.102;0.002	T	0.35201	-0.9798	10	0.05351	T	0.99	-37.7455	3.0653	0.06212	0.0994:0.1796:0.5356:0.1855	.	795;731;795	E5KMH8;Q8N8K8;P36776	.;.;LONM_HUMAN	E	795;759;599	ENSP00000353826:D795E;ENSP00000441523:D599E	ENSP00000351177:D759E	D	-	3	2	LONP1	5644716	.	.	0.983000	0.44433	0.431000	0.31685	.	.	0.241000	0.21283	-0.268000	0.10319	GAC	LONP1	-	pfam_Pept_S16_C,superfamily_Ribosomal_S5_D2-typ_fold,tigrfam_Lon_bac/euk-typ	ENSG00000196365		0.612	RPL36-001	KNOWN	alternative_5_UTR|overlapping_uORF|basic|appris_principal|CCDS	protein_coding	LONP1	HGNC	protein_coding	OTTHUMT00000442561.1	-	0.00	38	0	G	NM_015414		5693716	-1	tier1	-	no_errors	ENST00000360614	ensembl	human	known	74_37	missense	15.38	22	4	SNP	0.993	T
LONRF1	91694	genome.wustl.edu	37	8	12586755	12586755	+	Missense_Mutation	SNP	C	C	T			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr8:12586755C>T	ENST00000398246.3	-	9	1844	c.1775G>A	c.(1774-1776)aGa>aAa	p.R592K	LONRF1_ENST00000533751.1_Missense_Mutation_p.R235K|LONRF1_ENST00000525024.1_Missense_Mutation_p.R18K|MIR3926-2_ENST00000578598.1_RNA	NM_152271.3	NP_689484.3	Q17RB8	LONF1_HUMAN	LON peptidase N-terminal domain and ring finger 1	592	Lon.						ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19				READ - Rectum adenocarcinoma(644;0.236)		AATCATCAATCTGTATCTTGG	0.398																																																	0													91.0	87.0	88.0					8																	12586755		1911	4120	6031	SO:0001583	missense	0			AK074329	CCDS5987.2	8p23.1	2013-01-09			ENSG00000154359	ENSG00000154359		"""RING-type (C3HC4) zinc fingers"""	26302	protein-coding gene	gene with protein product						18253036	Standard	XM_005273685		Approved	FLJ23749, RNF191	uc003wwd.1	Q17RB8	OTTHUMG00000165475	ENST00000398246.3:c.1775G>A	8.37:g.12586755C>T	ENSP00000381298:p.Arg592Lys		B4DM29|B4DU84|Q8TEA0|Q9BSV1	Missense_Mutation	SNP	pfam_Pept_S16_N,pfam_Znf_C3HC4_RING-type,superfamily_PUA-like_domain,smart_TPR_repeat,smart_Znf_RING,smart_Pept_S16_N,pfscan_TPR-contain_dom,pfscan_Znf_RING	p.R592K	ENST00000398246.3	37	c.1775	CCDS5987.2	8	.	.	.	.	.	.	.	.	.	.	C	29.8	5.039928	0.93630	.	.	ENSG00000154359	ENST00000398246;ENST00000525024;ENST00000533751;ENST00000524526	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	5.05	5.05	0.67936	Peptidase S16, lon N-terminal (1);PUA-like domain (1);	0.000000	0.85682	D	0.000000	T	0.69369	0.3103	M	0.84511	2.7	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.73380	0.966;0.98	T	0.73157	-0.4071	10	0.56958	D	0.05	-16.0407	19.2927	0.94108	0.0:1.0:0.0:0.0	.	581;592	Q17RB8-2;Q17RB8	.;LONF1_HUMAN	K	592;18;235;195	ENSP00000381298:R592K;ENSP00000436770:R18K;ENSP00000432130:R235K;ENSP00000433327:R195K	ENSP00000381298:R592K	R	-	2	0	LONRF1	12631126	1.000000	0.71417	0.955000	0.39395	0.921000	0.55340	7.776000	0.85560	2.737000	0.93849	0.563000	0.77884	AGA	LONRF1	-	pfam_Pept_S16_N,superfamily_PUA-like_domain,smart_Pept_S16_N	ENSG00000154359		0.398	LONRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LONRF1	HGNC	protein_coding	OTTHUMT00000251693.2	-	0.00	16	0	C	NM_152271		12586755	-1	tier1	-	no_errors	ENST00000398246	ensembl	human	known	74_37	missense	29.63	19	8	SNP	1.000	T
LPHN3	23284	genome.wustl.edu	37	4	62903486	62903486	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr4:62903486G>T	ENST00000514591.1	+	23	3754	c.3425G>T	c.(3424-3426)tGc>tTc	p.C1142F	LPHN3_ENST00000511324.1_Missense_Mutation_p.C1201F|LPHN3_ENST00000545650.1_Missense_Mutation_p.C1142F|LPHN3_ENST00000514157.1_Missense_Mutation_p.C1133F|LPHN3_ENST00000508693.1_Missense_Mutation_p.C1210F|LPHN3_ENST00000506700.1_Missense_Mutation_p.C1133F|LPHN3_ENST00000509896.1_Missense_Mutation_p.C1210F|LPHN3_ENST00000507625.1_Missense_Mutation_p.C1201F|LPHN3_ENST00000508946.1_Missense_Mutation_p.C1142F|LPHN3_ENST00000506720.1_Missense_Mutation_p.C1210F|LPHN3_ENST00000512091.2_Missense_Mutation_p.C1142F|LPHN3_ENST00000504896.1_Missense_Mutation_p.C1142F|LPHN3_ENST00000507164.1_Missense_Mutation_p.C1201F|LPHN3_ENST00000514996.1_Missense_Mutation_p.C1133F|LPHN3_ENST00000506746.1_Missense_Mutation_p.C1201F			Q9HAR2	LPHN3_HUMAN	latrophilin 3	1120					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						CGAACACATTGCTGTAGTGGC	0.413																																																	0													144.0	145.0	145.0					4																	62903486		1959	4166	6125	SO:0001583	missense	0			AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.3425G>T	4.37:g.62903486G>T	ENSP00000422533:p.Cys1142Phe		E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like	p.C1201F	ENST00000514591.1	37	c.3602	CCDS54768.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.3|22.3	4.277145|4.277145	0.80580|0.80580	.|.	.|.	ENSG00000150471|ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996|ENST00000502815	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.39229|.	1.09;1.09;1.09;1.09;1.09;1.09;1.09;1.09;1.09;1.09;1.09;1.09;1.09;1.09;1.09|.	5.33|5.33	5.33|5.33	0.75918|0.75918	GPCR, family 2, latrophilin, C-terminal (1);|.	0.101074|.	0.64402|.	D|.	0.000001|.	T|T	0.74959|0.74959	0.3785|0.3785	M|M	0.65975|0.65975	2.015|2.015	0.80722|0.80722	D|D	1|1	D;D;D|.	0.76494|.	0.999;0.999;0.999|.	D;D;D|.	0.87578|.	0.998;0.998;0.996|.	T|T	0.72915|0.72915	-0.4147|-0.4147	10|5	0.72032|.	D|.	0.01|.	.|.	19.3821|19.3821	0.94542|0.94542	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1142;1120;1142|.	E9PE04;Q9HAR2;Q9HAR2-2|.	.;LPHN3_HUMAN;.|.	F|F	1142;1142;1210;1201;1133;1142;1120;1142;1201;1210;1201;1133;1142;1142;1210;1201;1133|590	ENSP00000423388:C1142F;ENSP00000422533:C1142F;ENSP00000423787:C1210F;ENSP00000425033:C1201F;ENSP00000424120:C1133F;ENSP00000439831:C1142F;ENSP00000421476:C1201F;ENSP00000424030:C1210F;ENSP00000421372:C1201F;ENSP00000425201:C1133F;ENSP00000423434:C1142F;ENSP00000421627:C1142F;ENSP00000420931:C1210F;ENSP00000425884:C1201F;ENSP00000424258:C1133F|.	ENSP00000280009:C1142F|.	C|L	+|+	2|3	0|2	LPHN3|LPHN3	62586081|62586081	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.951000|0.951000	0.60555|0.60555	9.411000|9.411000	0.97342|0.97342	2.653000|2.653000	0.90120|0.90120	0.650000|0.650000	0.86243|0.86243	TGC|TTG	LPHN3	-	pfam_GPCR_2_latrophilin_rcpt_C	ENSG00000150471		0.413	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	LPHN3	HGNC	protein_coding	OTTHUMT00000361765.1	-	0.00	68	0	G			62903486	+1	tier1	-	no_errors	ENST00000507625	ensembl	human	known	74_37	missense	6.90	54	4	SNP	1.000	T
LPIN2	9663	genome.wustl.edu	37	18	2937789	2937789	+	Missense_Mutation	SNP	A	A	C			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr18:2937789A>C	ENST00000261596.4	-	7	1307	c.1069T>G	c.(1069-1071)Tct>Gct	p.S357A		NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2	357					cellular lipid metabolic process (GO:0044255)|dephosphorylation (GO:0016311)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)|transcription coactivator activity (GO:0003713)			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		TCTAACATAGATGAAATCTGA	0.527																																																	0													104.0	98.0	100.0					18																	2937789		2203	4300	6503	SO:0001583	missense	0			D87436	CCDS11829.1	18p	2014-09-17			ENSG00000101577	ENSG00000101577			14450	protein-coding gene	gene with protein product		605519				11138012, 9039502	Standard	NM_014646		Approved	KIAA0249	uc002klo.3	Q92539	OTTHUMG00000131508	ENST00000261596.4:c.1069T>G	18.37:g.2937789A>C	ENSP00000261596:p.Ser357Ala		A7MD25|D3DUH3	Missense_Mutation	SNP	pfam_LNS2,pfam_Lipin_N,superfamily_HAD-like_dom,smart_LNS2	p.S357A	ENST00000261596.4	37	c.1069	CCDS11829.1	18	.	.	.	.	.	.	.	.	.	.	A	1.553	-0.538751	0.04053	.	.	ENSG00000101577	ENST00000261596	T	0.80123	-1.34	5.53	3.14	0.36123	.	0.876663	0.10557	N	0.660687	T	0.65123	0.2661	L	0.28115	0.83	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.48559	-0.9025	10	0.09590	T	0.72	.	6.8088	0.23792	0.7701:0.1532:0.0766:0.0	.	357	Q92539	LPIN2_HUMAN	A	357	ENSP00000261596:S357A	ENSP00000261596:S357A	S	-	1	0	LPIN2	2927789	0.997000	0.39634	0.991000	0.47740	0.389000	0.30415	1.742000	0.38248	0.914000	0.36822	0.533000	0.62120	TCT	LPIN2	-	NULL	ENSG00000101577		0.527	LPIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPIN2	HGNC	protein_coding	OTTHUMT00000254363.2	-	0.00	39	0	A	NM_014646		2937789	-1	tier1	-	no_errors	ENST00000261596	ensembl	human	known	74_37	missense	39.34	37	24	SNP	0.105	C
LRRC41	10489	genome.wustl.edu	37	1	46751588	46751588	+	Missense_Mutation	SNP	G	G	A	rs143695685		TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr1:46751588G>A	ENST00000343304.6	-	4	1226	c.941C>T	c.(940-942)cCc>cTc	p.P314L	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	314					protein ubiquitination (GO:0016567)	membrane (GO:0016020)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					TGCAGCTCTGGGCATCTGCTT	0.647													G|||	1	0.000199681	0.0	0.0	5008	,	,		13459	0.0		0.001	False		,,,				2504	0.0																0								G	LEU/PRO	0,4406		0,0,2203	24.0	25.0	25.0		941	3.1	1.0	1	dbSNP_134	25	1,8599	1.2+/-3.3	0,1,4299	yes	missense	LRRC41	NM_006369.4	98	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	314/813	46751588	1,13005	2203	4300	6503	SO:0001583	missense	0			AK024051	CCDS533.1	1p34.1	2008-02-05			ENSG00000132128	ENSG00000132128			16917	protein-coding gene	gene with protein product						11384984	Standard	XM_005270376		Approved	MUF1	uc001cpn.3	Q15345	OTTHUMG00000007810	ENST00000343304.6:c.941C>T	1.37:g.46751588G>A	ENSP00000343298:p.Pro314Leu		A8K5G8|Q3MJ96|Q5TDF5|Q71RA8|Q9BSM0	Missense_Mutation	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.P314L	ENST00000343304.6	37	c.941	CCDS533.1	1	.	.	.	.	.	.	.	.	.	.	g	7.873	0.728654	0.15507	0.0	1.16E-4	ENSG00000132128	ENST00000343304;ENST00000371972;ENST00000254454	T	0.44083	0.93	4.99	3.08	0.35506	.	0.542496	0.17817	N	0.160990	T	0.25158	0.0611	N	0.14661	0.345	0.23107	N	0.998286	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.001;0.002;0.001	T	0.19614	-1.0300	10	0.59425	D	0.04	-5.5123	9.1794	0.37131	0.2377:0.0:0.7623:0.0	.	314;292;314	Q15345-3;E9PE58;Q15345	.;.;LRC41_HUMAN	L	314;292;143	ENSP00000343298:P314L	ENSP00000254454:P143L	P	-	2	0	LRRC41	46524175	0.454000	0.25728	1.000000	0.80357	0.978000	0.69477	1.876000	0.39588	1.260000	0.44134	0.450000	0.29827	CCC	LRRC41	-	NULL	ENSG00000132128		0.647	LRRC41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC41	HGNC	protein_coding	OTTHUMT00000021438.1	-	0.00	53	0	G	NM_006369		46751588	-1	tier1	rs143695685	no_errors	ENST00000343304	ensembl	human	known	74_37	missense	25.00	42	14	SNP	0.337	A
LRRC4C	57689	genome.wustl.edu	37	11	40135924	40135924	+	Missense_Mutation	SNP	A	A	T			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr11:40135924A>T	ENST00000278198.2	-	2	3882	c.1919T>A	c.(1918-1920)aTc>aAc	p.I640N	LRRC4C_ENST00000527150.1_Missense_Mutation_p.I640N|LRRC4C_ENST00000530763.1_Missense_Mutation_p.I640N|LRRC4C_ENST00000528697.1_Missense_Mutation_p.I640N			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	640					regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				AATGTTTTAGATTTGAGTCTC	0.299																																																	0													65.0	61.0	62.0					11																	40135924		2203	4300	6503	SO:0001583	missense	0			AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"""Immunoglobulin superfamily / I-set domain containing"""	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.1919T>A	11.37:g.40135924A>T	ENSP00000278198:p.Ile640Asn		A8K0T1|Q7L0N3	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.I640N	ENST00000278198.2	37	c.1919	CCDS31464.1	11	.	.	.	.	.	.	.	.	.	.	A	15.94	2.982311	0.53827	.	.	ENSG00000148948	ENST00000278198;ENST00000527150;ENST00000528697;ENST00000530763	T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35	6.11	6.11	0.99139	.	0.000000	0.85682	D	0.000000	T	0.80281	0.4594	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81879	-0.0730	10	0.87932	D	0	.	15.8833	0.79219	1.0:0.0:0.0:0.0	.	640	Q9HCJ2	LRC4C_HUMAN	N	640	ENSP00000278198:I640N;ENSP00000436976:I640N;ENSP00000437132:I640N;ENSP00000434761:I640N	ENSP00000278198:I640N	I	-	2	0	LRRC4C	40092500	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.343000	0.79666	0.533000	0.62120	ATC	LRRC4C	-	NULL	ENSG00000148948		0.299	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	LRRC4C	HGNC	protein_coding	OTTHUMT00000389499.1	-	0.00	32	0	A	NM_020929		40135924	-1	tier1	-	no_errors	ENST00000527150	ensembl	human	known	74_37	missense	44.21	53	42	SNP	1.000	T
MAP4K2	5871	genome.wustl.edu	37	11	64559877	64559877	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr11:64559877G>T	ENST00000294066.2	-	25	1860	c.1769C>A	c.(1768-1770)aCc>aAc	p.T590N	MAP4K2_ENST00000377350.3_Missense_Mutation_p.T582N	NM_004579.3	NP_004570.2	Q12851	M4K2_HUMAN	mitogen-activated protein kinase kinase kinase kinase 2	590	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				activation of JUN kinase activity (GO:0007257)|immune response (GO:0006955)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|positive regulation of JNK cascade (GO:0046330)|protein phosphorylation (GO:0006468)|vesicle targeting (GO:0006903)	Golgi membrane (GO:0000139)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2)	8						AGGAATCTTGGTGGACAGAGC	0.637																																																	0													22.0	22.0	22.0					11																	64559877		2200	4296	6496	SO:0001583	missense	0			BC047865	CCDS8082.1	11q13.1	2011-06-09			ENSG00000168067	ENSG00000168067		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6864	protein-coding gene	gene with protein product		603166		RAB8IP		7515885	Standard	NM_004579		Approved	GCK, BL44	uc001obh.3	Q12851	OTTHUMG00000045328	ENST00000294066.2:c.1769C>A	11.37:g.64559877G>T	ENSP00000294066:p.Thr590Asn		Q86VU3	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom	p.T590N	ENST00000294066.2	37	c.1769	CCDS8082.1	11	.	.	.	.	.	.	.	.	.	.	G	12.54	1.967191	0.34754	.	.	ENSG00000168067	ENST00000294066;ENST00000377350	T;T	0.04706	3.57;3.57	4.7	2.64	0.31445	Citron-like (3);	0.360630	0.29342	N	0.012423	T	0.03305	0.0096	N	0.13098	0.295	0.31066	N	0.713541	B;B	0.12013	0.005;0.005	B;B	0.11329	0.006;0.006	T	0.10823	-1.0613	10	0.56958	D	0.05	.	9.1942	0.37217	0.0:0.0:0.6052:0.3948	.	582;590	Q86VU3;Q12851	.;M4K2_HUMAN	N	590;582	ENSP00000294066:T590N;ENSP00000366567:T582N	ENSP00000294066:T590N	T	-	2	0	MAP4K2	64316453	0.265000	0.24102	1.000000	0.80357	0.971000	0.66376	1.070000	0.30653	0.965000	0.38133	0.456000	0.33151	ACC	MAP4K2	-	pfam_Citron,smart_Citron	ENSG00000168067		0.637	MAP4K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP4K2	HGNC	protein_coding	OTTHUMT00000105239.1	-	0.00	76	0	G	NM_004579		64559877	-1	tier1	-	no_errors	ENST00000294066	ensembl	human	known	74_37	missense	9.76	37	4	SNP	0.999	T
MBD3	53615	genome.wustl.edu	37	19	1578360	1578360	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr19:1578360G>T	ENST00000434436.3	-	6	984	c.855C>A	c.(853-855)gaC>gaA	p.D285E	MBD3_ENST00000590550.2_Missense_Mutation_p.D229E|MBD3_ENST00000156825.1_Missense_Mutation_p.D285E|MBD3_ENST00000585967.1_5'Flank|MBD3_ENST00000592012.1_Missense_Mutation_p.D253E|AC005943.5_ENST00000588960.1_lincRNA|UQCR11_ENST00000585937.1_3'UTR	NM_001281453.1	NP_001268382.1	O95983	MBD3_HUMAN	methyl-CpG binding domain protein 3	285					ATP-dependent chromatin remodeling (GO:0043044)|histone acetylation (GO:0016573)|in utero embryonic development (GO:0001701)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|tissue development (GO:0009888)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|methyl-CpG binding (GO:0008327)			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	8		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18)		CCATCTCCGGGTCCGGGTCGG	0.697																																																	0													22.0	24.0	24.0					19																	1578360		2201	4297	6498	SO:0001583	missense	0			AF072247	CCDS12072.1, CCDS62481.1	19p13	2008-07-17				ENSG00000071655			6918	protein-coding gene	gene with protein product		603573				9774669, 10441743	Standard	NM_001281454		Approved		uc002ltl.1	O95983		ENST00000434436.3:c.855C>A	19.37:g.1578360G>T	ENSP00000412302:p.Asp285Glu		A8K4B7|D6W5Z2|Q6PIL9|Q6PJZ9|Q86XF4	Missense_Mutation	SNP	pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,superfamily_ARM-type_fold,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd	p.D285E	ENST00000434436.3	37	c.855	CCDS12072.1	19	.	.	.	.	.	.	.	.	.	.	G	13.24	2.179494	0.38511	.	.	ENSG00000071655	ENST00000434436;ENST00000156825	D	0.98512	-4.97	4.1	1.93	0.25924	.	2.099360	0.02401	N	0.080689	D	0.94295	0.8167	N	0.14661	0.345	0.23010	N	0.998437	B;B	0.31817	0.341;0.231	B;B	0.24848	0.056;0.05	D	0.90751	0.4657	10	0.87932	D	0	-16.8386	6.2602	0.20895	0.2172:0.0:0.7828:0.0	.	253;285	O95983-2;O95983	.;MBD3_HUMAN	E	253;285	ENSP00000156825:D285E	ENSP00000156825:D285E	D	-	3	2	MBD3	1529360	1.000000	0.71417	0.752000	0.31206	0.168000	0.22595	2.159000	0.42339	1.829000	0.53265	0.313000	0.20887	GAC	MBD3	-	NULL	ENSG00000071655		0.697	MBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBD3	HGNC	protein_coding	OTTHUMT00000449658.2	-	0.00	53	0	G	NM_003926		1578360	-1	tier1	-	no_errors	ENST00000156825	ensembl	human	known	74_37	missense	20.00	16	4	SNP	0.848	T
MAST1	22983	genome.wustl.edu	37	19	12976154	12976154	+	Missense_Mutation	SNP	G	G	A			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr19:12976154G>A	ENST00000251472.4	+	15	1702	c.1663G>A	c.(1663-1665)Gcg>Acg	p.A555T		NM_014975.2	NP_055790.1			microtubule associated serine/threonine kinase 1											NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						AGAGTACATCGCGCCCGAGGT	0.657																																																	0													66.0	63.0	64.0					19																	12976154		2203	4300	6503	SO:0001583	missense	0			AB023190	CCDS32921.1	19p13.2	2008-02-05				ENSG00000105613			19034	protein-coding gene	gene with protein product		612256					Standard	NM_014975		Approved	SAST, KIAA0973	uc002mvm.3	Q9Y2H9		ENST00000251472.4:c.1663G>A	19.37:g.12976154G>A	ENSP00000251472:p.Ala555Thr			Missense_Mutation	SNP	pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom	p.A555T	ENST00000251472.4	37	c.1663	CCDS32921.1	19	.	.	.	.	.	.	.	.	.	.	G	33	5.216863	0.95104	.	.	ENSG00000105613	ENST00000251472;ENST00000542153	T	0.53423	0.62	4.81	4.81	0.61882	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.060918	0.64402	D	0.000005	T	0.78451	0.4285	H	0.96430	3.82	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85786	0.1364	10	0.87932	D	0	-14.4835	15.746	0.77944	0.0:0.0:1.0:0.0	.	555	Q9Y2H9	MAST1_HUMAN	T	555	ENSP00000251472:A555T	ENSP00000251472:A555T	A	+	1	0	MAST1	12837154	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	9.828000	0.99408	2.408000	0.81797	0.655000	0.94253	GCG	MAST1	-	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	ENSG00000105613		0.657	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAST1	HGNC	protein_coding	OTTHUMT00000451733.2	-	0.00	58	0	G	NM_014975		12976154	+1	tier1	-	no_errors	ENST00000251472	ensembl	human	known	74_37	missense	79.49	8	31	SNP	1.000	A
MBL2	4153	genome.wustl.edu	37	10	54528082	54528082	+	Missense_Mutation	SNP	C	C	A			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr10:54528082C>A	ENST00000373968.3	-	4	626	c.562G>T	c.(562-564)Gat>Tat	p.D188Y		NM_000242.2	NP_000233.1	P11226	MBL2_HUMAN	mannose-binding lectin (protein C) 2, soluble	188	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				acute-phase response (GO:0006953)|complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|complement activation, lectin pathway (GO:0001867)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response (GO:0045087)|killing by host of symbiont cells (GO:0051873)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of viral process (GO:0048525)|opsonization (GO:0008228)|positive regulation of phagocytosis (GO:0050766)|response to oxidative stress (GO:0006979)	cell surface (GO:0009986)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium-dependent protein binding (GO:0048306)|mannose binding (GO:0005537)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						GTCTTCTCATCAGTGATGCCC	0.507																																																	0													266.0	246.0	253.0					10																	54528082		2202	4300	6502	SO:0001583	missense	0			AF360991	CCDS7247.1	10q11.2	2014-09-17	2011-02-02		ENSG00000165471	ENSG00000165471		"""Collectins"""	6922	protein-coding gene	gene with protein product		154545	"""mannose-binding lectin (protein C) 2, soluble (opsonic defect)"""	MBL		1675710, 1672848	Standard	NM_000242		Approved	COLEC1	uc001jjt.3	P11226	OTTHUMG00000150270	ENST00000373968.3:c.562G>T	10.37:g.54528082C>A	ENSP00000363079:p.Asp188Tyr		Q4VB12|Q4VB13|Q4VB14|Q5SQS3|Q86SI4|Q96KE4|Q96TF7|Q96TF8|Q96TF9	Missense_Mutation	SNP	pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.D188Y	ENST00000373968.3	37	c.562	CCDS7247.1	10	.	.	.	.	.	.	.	.	.	.	C	12.87	2.066804	0.36470	.	.	ENSG00000165471	ENST00000373968	T	0.28255	1.62	4.73	2.86	0.33363	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.094486	0.45867	D	0.000337	T	0.64438	0.2598	H	0.96805	3.885	0.49213	D	0.999762	D	0.89917	1.0	D	0.97110	1.0	T	0.68704	-0.5338	10	0.87932	D	0	-18.0357	8.0833	0.30758	0.1585:0.7546:0.0:0.0868	.	188	P11226	MBL2_HUMAN	Y	188	ENSP00000363079:D188Y	ENSP00000363079:D188Y	D	-	1	0	MBL2	54198088	0.997000	0.39634	0.516000	0.27786	0.092000	0.18411	2.395000	0.44459	0.660000	0.30964	-0.218000	0.12543	GAT	MBL2	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	ENSG00000165471		0.507	MBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBL2	HGNC	protein_coding	OTTHUMT00000048115.1		0.00	18	0	C	NM_000242		54528082	-1			no_errors	ENST00000373968	ensembl	human	known	74_37	missense	5.88	32	2	SNP	0.967	A
MGA	23269	genome.wustl.edu	37	15	41961679	41961679	+	Missense_Mutation	SNP	C	C	T			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr15:41961679C>T	ENST00000570161.1	+	1	587	c.587C>T	c.(586-588)tCt>tTt	p.S196F	MGA_ENST00000566586.1_Missense_Mutation_p.S196F|MGA_ENST00000545763.1_Missense_Mutation_p.S196F|MGA_ENST00000389936.4_Missense_Mutation_p.S196F|MGA_ENST00000219905.7_Missense_Mutation_p.S196F|MGA_ENST00000568630.1_Intron			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)	p.S196C(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ATCTTGCACTCTATGCATCGT	0.448																																																	1	Substitution - Missense(1)	lung(1)											168.0	166.0	166.0					15																	41961679		1978	4161	6139	SO:0001583	missense	0			AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.587C>T	15.37:g.41961679C>T	ENSP00000457035:p.Ser196Phe		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	pfam_TF_T-box,pfam_bHLH_dom,superfamily_p53-like_TF_DNA-bd,superfamily_bHLH_dom,smart_TF_T-box,smart_bHLH_dom,pfscan_bHLH_dom,pfscan_TF_T-box,prints_TF_T-box	p.S196F	ENST00000570161.1	37	c.587	CCDS55959.1	15	.	.	.	.	.	.	.	.	.	.	C	23.4	4.407016	0.83230	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	D;D;D	0.91894	-2.93;-2.93;-2.93	5.93	5.93	0.95920	.	0.095329	0.85682	D	0.000000	D	0.97284	0.9112	M	0.93062	3.375	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.97481	1.0047	10	0.87932	D	0	.	20.3363	0.98740	0.0:1.0:0.0:0.0	.	196;196	F5H7K2;E7ENI0	.;.	F	196	ENSP00000219905:S196F;ENSP00000374586:S196F;ENSP00000442467:S196F	ENSP00000219905:S196F	S	+	2	0	MGA	39748971	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.818000	0.86416	2.814000	0.96858	0.563000	0.77884	TCT	MGA	-	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	ENSG00000174197		0.448	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MGA	HGNC	protein_coding	OTTHUMT00000420229.1		0.00	16	0	C	NM_001164273.1		41961679	+1			no_errors	ENST00000219905	ensembl	human	known	74_37	missense	9.09	50	5	SNP	1.000	T
MID1	4281	genome.wustl.edu	37	X	10535076	10535076	+	Missense_Mutation	SNP	C	C	A			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chrX:10535076C>A	ENST00000317552.4	-	2	912	c.512G>T	c.(511-513)cGg>cTg	p.R171L	MID1_ENST00000380785.1_Missense_Mutation_p.R171L|MID1_ENST00000380787.1_Missense_Mutation_p.R171L|MID1_ENST00000380779.1_Missense_Mutation_p.R171L|MID1_ENST00000380780.1_Missense_Mutation_p.R171L|MID1_ENST00000380782.2_Missense_Mutation_p.R171L|MID1_ENST00000453318.2_Missense_Mutation_p.R171L	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN	midline 1	171					microtubule cytoskeleton organization (GO:0000226)|negative regulation of microtubule depolymerization (GO:0007026)|pattern specification process (GO:0007389)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein localization to microtubule (GO:0035372)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	ligase activity (GO:0016874)|microtubule binding (GO:0008017)|phosphoprotein binding (GO:0051219)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						CATCAGCCCCCGGATGTGAGA	0.512																																																	0													105.0	89.0	94.0					X																	10535076		2203	4300	6503	SO:0001583	missense	0			Y13667	CCDS14138.1, CCDS75952.1, CCDS75953.1	Xp22	2014-06-18	2014-06-18		ENSG00000101871	ENSG00000101871		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	7095	protein-coding gene	gene with protein product	"""Opitz/BBB syndrome"""	300552				9354791, 9425238	Standard	NM_001098624		Approved	OS, FXY, TRIM18, RNF59	uc004cti.4	O15344	OTTHUMG00000021127	ENST00000317552.4:c.512G>T	X.37:g.10535076C>A	ENSP00000312678:p.Arg171Leu		B2RCG2|O75361|Q9BZX5	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.R171L	ENST00000317552.4	37	c.512	CCDS14138.1	X	.	.	.	.	.	.	.	.	.	.	C	21.5	4.164261	0.78339	.	.	ENSG00000101871	ENST00000453318;ENST00000317552;ENST00000380785;ENST00000380779;ENST00000380787;ENST00000380780;ENST00000380782;ENST00000454373;ENST00000413894;ENST00000423614	T;T;T;T;T;T;T;T;T	0.58060	0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36	5.64	5.64	0.86602	Zinc finger, B-box (2);	0.000000	0.85682	D	0.000000	T	0.70219	0.3199	M	0.63843	1.955	0.80722	D	1	D;P;P;D;D;D	0.63046	0.979;0.951;0.917;0.978;0.992;0.992	P;P;P;P;D;P	0.64877	0.809;0.57;0.806;0.835;0.93;0.898	T	0.72597	-0.4245	10	0.72032	D	0.01	.	18.7983	0.92005	0.0:1.0:0.0:0.0	.	171;171;171;171;171;171	C9JZJ7;B7Z5K6;C9J453;O15344-2;A8K5A0;O15344	.;.;.;.;.;TRI18_HUMAN	L	171;171;171;171;171;171;171;159;171;171	ENSP00000414521:R171L;ENSP00000312678:R171L;ENSP00000370162:R171L;ENSP00000370156:R171L;ENSP00000370164:R171L;ENSP00000370157:R171L;ENSP00000370159:R171L;ENSP00000391154:R171L;ENSP00000387771:R171L	ENSP00000312678:R171L	R	-	2	0	MID1	10495076	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.828000	0.62730	2.386000	0.81285	0.600000	0.82982	CGG	MID1	-	smart_Znf_B-box,pfscan_Znf_B-box	ENSG00000101871		0.512	MID1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	MID1	HGNC	protein_coding	OTTHUMT00000055738.1		0.00	24	0	C			10535076	-1			no_errors	ENST00000317552	ensembl	human	known	74_37	missense	8.89	41	4	SNP	1.000	A
MKRN3	7681	genome.wustl.edu	37	15	23812263	23812263	+	Missense_Mutation	SNP	T	T	C			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr15:23812263T>C	ENST00000314520.3	+	1	1810	c.1334T>C	c.(1333-1335)cTt>cCt	p.L445P	MKRN3_ENST00000568945.1_Intron|MKRN3_ENST00000564592.1_Intron|MKRN3_ENST00000568252.1_Intron|RP11-73C9.1_ENST00000563044.1_RNA	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	445					protein ubiquitination (GO:0016567)	ribonucleoprotein complex (GO:0030529)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		TGGCATCAACTTGTGGAGCCT	0.517																																																	0													116.0	103.0	107.0					15																	23812263		2203	4300	6503	SO:0001583	missense	0			U19107	CCDS10013.1	15q11-q13	2013-01-09	2008-08-13		ENSG00000179455	ENSG00000179455		"""RING-type (C3HC4) zinc fingers"""	7114	protein-coding gene	gene with protein product	"""zinc finger protein 127"""	603856		ZNF127, D15S9		10196367	Standard	NM_005664		Approved	RNF63, ZFP127, MGC88288	uc001ywh.4	Q13064	OTTHUMG00000129160	ENST00000314520.3:c.1334T>C	15.37:g.23812263T>C	ENSP00000313881:p.Leu445Pro			Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_CCCH,smart_Znf_RING,pfscan_Znf_RING	p.L445P	ENST00000314520.3	37	c.1334	CCDS10013.1	15	.	.	.	.	.	.	.	.	.	.	T	2.178	-0.388262	0.04932	.	.	ENSG00000179455	ENST00000314520	T	0.33438	1.41	3.98	0.288	0.15719	.	0.319446	0.24568	N	0.037404	T	0.21103	0.0508	L	0.52573	1.65	0.21933	N	0.999466	B	0.06786	0.001	B	0.04013	0.001	T	0.15235	-1.0444	10	0.45353	T	0.12	.	2.6026	0.04870	0.2216:0.2181:0.0:0.5603	.	445	Q13064	MKRN3_HUMAN	P	445	ENSP00000313881:L445P	ENSP00000313881:L445P	L	+	2	0	MKRN3	21363356	0.651000	0.27340	0.000000	0.03702	0.038000	0.13279	1.153000	0.31676	0.021000	0.15133	-0.376000	0.06991	CTT	MKRN3	-	NULL	ENSG00000179455		0.517	MKRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MKRN3	HGNC	protein_coding	OTTHUMT00000251225.1	-	0.00	47	0	T	NM_005664		23812263	+1	tier1	-	no_errors	ENST00000314520	ensembl	human	known	74_37	missense	53.85	30	35	SNP	0.002	C
MPO	4353	genome.wustl.edu	37	17	56357278	56357278	+	Missense_Mutation	SNP	C	C	T			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr17:56357278C>T	ENST00000225275.3	-	3	522	c.346G>A	c.(346-348)Gct>Act	p.A116T	MPO_ENST00000578493.1_5'Flank|MPO_ENST00000340482.3_Missense_Mutation_p.A116T	NM_000250.1	NP_000241.1	P05164	PERM_HUMAN	myeloperoxidase	116					aging (GO:0007568)|defense response (GO:0006952)|defense response to fungus (GO:0050832)|hydrogen peroxide catabolic process (GO:0042744)|hypochlorous acid biosynthetic process (GO:0002149)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of apoptotic process (GO:0043066)|negative regulation of growth of symbiont in host (GO:0044130)|oxidation-reduction process (GO:0055114)|removal of superoxide radicals (GO:0019430)|respiratory burst involved in defense response (GO:0002679)|response to food (GO:0032094)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|response to yeast (GO:0001878)	azurophil granule (GO:0042582)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|secretory granule (GO:0030141)	chromatin binding (GO:0003682)|heme binding (GO:0020037)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Aminosalicylic Acid(DB00233)|Bivalirudin(DB00006)|Calcipotriol(DB02300)|Carboplatin(DB00958)|Cefaclor(DB00833)|Cefdinir(DB00535)|Cisplatin(DB00515)|Cysteamine(DB00847)|Dapsone(DB00250)|Enoxaparin(DB01225)|Human Serum Albumin(DB00062)|L-Carnitine(DB00583)|Melatonin(DB01065)|Mesalazine(DB00244)|Nabumetone(DB00461)|Octreotide(DB00104)|Oxaliplatin(DB00526)|Propylthiouracil(DB00550)|Ticlopidine(DB00208)|Tolmetin(DB00500)	AGGTAGTCAGCGGCCCTCACC	0.627																																																	0													44.0	40.0	41.0					17																	56357278		2203	4300	6503	SO:0001583	missense	0				CCDS11604.1	17q21.3-q23	2014-09-17				ENSG00000005381	1.11.1.7		7218	protein-coding gene	gene with protein product		606989					Standard	NM_000250		Approved		uc002ivu.1	P05164		ENST00000225275.3:c.346G>A	17.37:g.56357278C>T	ENSP00000225275:p.Ala116Thr		A1L4B8|Q14862|Q4PJH5|Q9UCL7	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr	p.A116T	ENST00000225275.3	37	c.346	CCDS11604.1	17	.	.	.	.	.	.	.	.	.	.	C	21.3	4.126856	0.77549	.	.	ENSG00000005381	ENST00000340482;ENST00000225275	T;T	0.78003	-1.14;-0.62	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	D	0.89451	0.6719	M	0.85945	2.785	0.58432	D	0.999992	D	0.89917	1.0	D	0.87578	0.998	D	0.91080	0.4899	10	0.87932	D	0	-10.4195	17.8044	0.88598	0.0:1.0:0.0:0.0	.	116	P05164	PERM_HUMAN	T	116	ENSP00000344419:A116T;ENSP00000225275:A116T	ENSP00000225275:A116T	A	-	1	0	MPO	53712277	1.000000	0.71417	0.967000	0.41034	0.370000	0.29829	6.562000	0.73960	2.455000	0.83008	0.561000	0.74099	GCT	MPO	-	NULL	ENSG00000005381		0.627	MPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPO	HGNC	protein_coding	OTTHUMT00000443971.1	-	0.00	87	0	C			56357278	-1	tier1	-	no_errors	ENST00000340482	ensembl	human	known	74_37	missense	17.57	61	13	SNP	0.980	T
MT-CO1	4512	genome.wustl.edu	37	M	7332	7332	+	Missense_Mutation	SNP	G	G	A			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chrM:7332G>A	ENST00000361624.2	+	1	1429	c.1429G>A	c.(1429-1431)Gct>Act	p.A477T	MT-TM_ENST00000387377.1_RNA|MT-TG_ENST00000387429.1_RNA|MT-TD_ENST00000387419.1_RNA|MT-TW_ENST00000387382.1_RNA|MT-TN_ENST00000387400.1_RNA|MT-ATP8_ENST00000361851.1_5'Flank|MT-TA_ENST00000387392.1_RNA|MT-ATP6_ENST00000361899.2_5'Flank|MT-TS1_ENST00000387416.2_RNA|MT-CO2_ENST00000361739.1_5'Flank|MT-CO3_ENST00000362079.2_5'Flank|MT-TK_ENST00000387421.1_RNA|MT-TY_ENST00000387409.1_RNA|MT-ND3_ENST00000361227.2_5'Flank|MT-TQ_ENST00000387372.1_RNA|MT-TC_ENST00000387405.1_RNA			P00395	COX1_HUMAN	mitochondrially encoded cytochrome c oxidase I	477					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex IV (GO:0005751)|respiratory chain complex IV (GO:0045277)	cytochrome-c oxidase activity (GO:0004129)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						GAGAAGCCTTCGCTTCGAAGC	0.423																																																	0																																										SO:0001583	missense	0					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198804	ENSG00000198804		"""Mitochondrial respiratory chain complex / Complex IV"""	7419	protein-coding gene	gene with protein product		516030	"""cytochrome c oxidase I"""	MTCO1		7219534	Standard			Approved	COX1, COI		P00395		ENST00000361624.2:c.1429G>A	M.37:g.7332G>A	ENSP00000354499:p.Ala477Thr		Q34770	Missense_Mutation	SNP	pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom,prints_Cyt_c_Oxase_su1	p.A477T	ENST00000361624.2	37	c.1429		MT																																																																																			MT-CO1	-	superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom	ENSG00000198804		0.423	MT-CO1-201	KNOWN	basic|appris_principal	protein_coding	MT-CO1	HGNC	protein_coding		-	0.00	31	0	G	YP_003024028		7332	+1	tier1	-	no_errors	ENST00000361624	ensembl	human	known	74_37	missense	97.96	3	144	SNP	NULL	A
MTOR	2475	genome.wustl.edu	37	1	11206789	11206789	+	Missense_Mutation	SNP	C	C	T			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr1:11206789C>T	ENST00000361445.4	-	32	4706	c.4630G>A	c.(4630-4632)Gca>Aca	p.A1544T	MTOR-AS1_ENST00000420480.1_RNA|MTOR_ENST00000495435.1_5'Flank|MTOR-AS1_ENST00000445982.1_RNA	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1544	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	CTATAAAATGCCCCATCATGG	0.488																																																	0													159.0	147.0	151.0					1																	11206789		2203	4300	6503	SO:0001583	missense	0			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"""FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin"""	601231	"""FK506 binding protein 12-rapamycin associated protein 1"""	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.4630G>A	1.37:g.11206789C>T	ENSP00000354558:p.Ala1544Thr		Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_Rapamycin-bd_dom,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_Rapamycin-bd_dom,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.A1544T	ENST00000361445.4	37	c.4630	CCDS127.1	1	.	.	.	.	.	.	.	.	.	.	C	34	5.329374	0.95733	.	.	ENSG00000198793	ENST00000361445;ENST00000539766	T	0.70164	-0.46	5.86	5.86	0.93980	PIK-related kinase (1);PIK-related kinase, FAT (1);Armadillo-like helical (1);	0.000000	0.85682	D	0.000000	T	0.81317	0.4797	M	0.65498	2.005	0.80722	D	1	D	0.69078	0.997	D	0.77004	0.989	T	0.78270	-0.2269	10	0.38643	T	0.18	-19.0721	20.1931	0.98233	0.0:1.0:0.0:0.0	.	1544	P42345	MTOR_HUMAN	T	1544	ENSP00000354558:A1544T	ENSP00000354558:A1544T	A	-	1	0	MTOR	11129376	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.456000	0.80751	2.771000	0.95319	0.563000	0.77884	GCA	MTOR	-	pfam_PIK-rel_kinase_FAT,pfscan_PIK_FAT	ENSG00000198793		0.488	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTOR	HGNC	protein_coding	OTTHUMT00000005558.1	-	0.00	37	0	C	NM_004958		11206789	-1	tier1	-	no_errors	ENST00000361445	ensembl	human	known	74_37	missense	5.19	73	4	SNP	1.000	T
MUC12	10071	genome.wustl.edu	37	7	100643679	100643679	+	Missense_Mutation	SNP	T	T	A			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr7:100643679T>A	ENST00000379442.3	+	5	10264	c.10264T>A	c.(10264-10266)Tca>Aca	p.S3422T	MUC12_ENST00000536621.1_Missense_Mutation_p.S3279T			Q9UKN1	MUC12_HUMAN	mucin 12, cell surface associated	3422	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						CAGCCCGAGCTCAACTCCAAC	0.552																																																	0													85.0	97.0	93.0					7																	100643679		691	1578	2269	SO:0001583	missense	0			AF147790, AF147791	CCDS55139.1	7q22	2007-01-17	2006-03-14		ENSG00000205277	ENSG00000205277		"""Mucins"""	7510	protein-coding gene	gene with protein product		604609	"""mucin 11"""	MUC11		10463611	Standard	NM_001164462		Approved		uc003uxo.3	Q9UKN1	OTTHUMG00000157042	ENST00000379442.3:c.10264T>A	7.37:g.100643679T>A	ENSP00000368755:p.Ser3422Thr		A6ND38|F5GWV9|Q9UKN0	Missense_Mutation	SNP	pfam_SEA_dom	p.S3279T	ENST00000379442.3	37	c.9835		7	.	.	.	.	.	.	.	.	.	.	t	1.444	-0.566941	0.03910	.	.	ENSG00000205277	ENST00000379442;ENST00000536621	T;T	0.12147	2.71;2.71	0.109	0.109	0.14578	.	.	.	.	.	T	0.05318	0.0141	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.44742	-0.9308	6	0.13470	T	0.59	.	.	.	.	.	.	.	.	T	3422;3279	ENSP00000368755:S3422T;ENSP00000441929:S3279T	ENSP00000368755:S3422T	S	+	1	0	MUC12	100430399	0.000000	0.05858	0.026000	0.17262	0.026000	0.11368	0.056000	0.14256	0.156000	0.19299	0.155000	0.16302	TCA	MUC12	-	NULL	ENSG00000205277		0.552	MUC12-001	NOVEL	basic|appris_candidate_longest	protein_coding	MUC12	HGNC	protein_coding	OTTHUMT00000347234.1	-	0.00	432	0	T	XM_379904		100643679	+1	tier1	-	no_errors	ENST00000536621	ensembl	human	known	74_37	missense	7.98	679	59	SNP	0.028	A
MUC17	140453	genome.wustl.edu	37	7	100680772	100680773	+	Missense_Mutation	DNP	TC	TC	AA			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	T|C	T|C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr7:100680772_100680773TC>AA	ENST00000306151.4	+	3	6139_6140	c.6075_6076TC>AA	c.(6073-6078)tcTCct>tcAAct	p.P2026T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2026	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.P2026S(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GCAGTTCATCTCCTACAACTGC	0.525																																																	1	Substitution - Missense(1)	skin(1)																																								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	Exception_encountered	7.37:g.100680772_100680773delinsAA	ENSP00000302716:p.Pro2026Thr		O14761|Q685J2|Q8TDH7	Silent|Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom	p.S2025|p.P2026T	ENST00000306151.4	37	c.6075|c.6076	CCDS34711.1	7																																																																																			MUC17	-	NULL	ENSG00000169876		0.525	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC17	HGNC	protein_coding	OTTHUMT00000347161.1	-	0.00	59|60	0	T|C	NM_001040105		100680772|100680773	+1	tier1	-	no_errors	ENST00000306151	ensembl	human	known	74_37	silent|missense	41.84|42.27	57|56	41	SNP	0.264|0.207	A
MUC4	4585	genome.wustl.edu	37	3	195490953	195490953	+	Silent	SNP	G	G	T			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr3:195490953G>T	ENST00000346145.4	-	10	1338	c.1299C>A	c.(1297-1299)ccC>ccA	p.P433P	MUC4_ENST00000475231.1_Silent_p.P4617P|MUC4_ENST00000349607.4_Silent_p.P382P|MUC4_ENST00000463781.3_Silent_p.P4669P	NM_004532.5	NP_004523.3	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1426					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGCCCACGTGGGGCCGCCTCT	0.672																																																	0													17.0	15.0	16.0					3																	195490953		2201	4298	6499	SO:0001819	synonymous_variant	0			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000346145.4:c.1299C>A	3.37:g.195490953G>T			O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Silent	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom	p.P4669	ENST00000346145.4	37	c.14007	CCDS3310.1	3																																																																																			MUC4	-	NULL	ENSG00000145113		0.672	MUC4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000341862.1		0.00	62	0	G	NM_018406		195490953	-1			no_errors	ENST00000463781	ensembl	human	known	74_37	silent	6.35	59	4	SNP	0.653	T
MYH4	4622	genome.wustl.edu	37	17	10351436	10351436	+	Missense_Mutation	SNP	A	A	C			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr17:10351436A>C	ENST00000255381.2	-	34	4774	c.4664T>G	c.(4663-4665)cTt>cGt	p.L1555R	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1555					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TTCATGCTCAAGAGATGCCTT	0.333																																																	0													91.0	81.0	85.0					17																	10351436		2202	4300	6502	SO:0001583	missense	0				CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.4664T>G	17.37:g.10351436A>C	ENSP00000255381:p.Leu1555Arg			Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.L1555R	ENST00000255381.2	37	c.4664	CCDS11154.1	17	.	.	.	.	.	.	.	.	.	.	A	22.6	4.308322	0.81247	.	.	ENSG00000141048	ENST00000255381	D	0.83335	-1.71	5.59	5.59	0.84812	Myosin tail (1);	0.000000	0.33327	U	0.005026	D	0.89962	0.6867	M	0.76170	2.325	0.58432	D	0.999998	P	0.44344	0.833	P	0.59171	0.853	D	0.90960	0.4812	10	0.87932	D	0	.	16.0459	0.80720	1.0:0.0:0.0:0.0	.	1555	Q9Y623	MYH4_HUMAN	R	1555	ENSP00000255381:L1555R	ENSP00000255381:L1555R	L	-	2	0	MYH4	10292161	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.284000	0.95882	2.250000	0.74265	0.533000	0.62120	CTT	MYH4	-	pfam_Myosin_tail	ENSG00000264424		0.333	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	MYH4	HGNC	protein_coding	OTTHUMT00000252731.1	-	0.00	9	0	A	NM_017533		10351436	-1	tier1	-	no_errors	ENST00000255381	ensembl	human	known	74_37	missense	76.47	4	13	SNP	1.000	C
MZF1	7593	genome.wustl.edu	37	19	59073508	59073508	+	Silent	SNP	C	C	T			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr19:59073508C>T	ENST00000215057.2	-	6	2696	c.2136G>A	c.(2134-2136)caG>caA	p.Q712Q	AC016629.8_ENST00000600726.1_RNA|AC016629.8_ENST00000600534.1_RNA|MZF1_ENST00000594234.1_3'UTR|MZF1_ENST00000599369.1_Silent_p.Q712Q|AC016629.8_ENST00000593642.1_RNA	NM_001267033.1|NM_198055.1	NP_001253962.1|NP_932172.1	P28698	MZF1_HUMAN	myeloid zinc finger 1	712					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182)		GGCCACAGTCCTGGCAGGCGA	0.682																																																	0													30.0	29.0	29.0					19																	59073508		2195	4295	6490	SO:0001819	synonymous_variant	0			M58297	CCDS12988.1, CCDS59427.1	19q13.43	2014-08-22	2006-06-15	2006-06-15	ENSG00000099326	ENSG00000099326		"""-"", ""Zinc fingers, C2H2-type"""	13108	protein-coding gene	gene with protein product		194550	"""zinc finger protein 42 (myeloid-specific retinoic acid-responsive)"""	ZNF42		1860835	Standard	NM_198055		Approved	ZSCAN6, MZF1B, MZF-1, Zfp98	uc002qtn.3	P28698	OTTHUMG00000183550	ENST00000215057.2:c.2136G>A	19.37:g.59073508C>T			M0QXU0|Q7Z729|Q96I71|Q9NRY0|Q9UBW2	Silent	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.Q712	ENST00000215057.2	37	c.2136	CCDS12988.1	19																																																																																			MZF1	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000099326		0.682	MZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MZF1	HGNC	protein_coding	OTTHUMT00000467112.1	-	0.00	73	0	C	NM_198055		59073508	-1	tier1	-	no_errors	ENST00000215057	ensembl	human	known	74_37	silent	25.71	26	9	SNP	0.998	T
NAF1	92345	genome.wustl.edu	37	4	164050200	164050200	+	Frame_Shift_Del	DEL	G	G	-			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr4:164050200delG	ENST00000274054.2	-	8	1527	c.1334delC	c.(1333-1335)ccafs	p.P446fs	NAF1_ENST00000422287.2_Intron|NAF1_ENST00000509434.1_Intron	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN	nuclear assembly factor 1 ribonucleoprotein	446	Pro-rich.				pseudouridine synthesis (GO:0001522)|ribosome biogenesis (GO:0042254)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21	all_hematologic(180;0.166)	Prostate(90;0.109)				GTTTACAggtgggggtggtgg	0.527																																																	0																																										SO:0001589	frameshift_variant	0				CCDS3803.1, CCDS47159.1	4q32.2	2013-03-05	2013-03-05			ENSG00000145414			25126	protein-coding gene	gene with protein product			"""nuclear assembly factor 1 homolog (S. cerevisiae)"""			16618814, 16601202	Standard	NM_138386		Approved		uc003iqj.3	Q96HR8		ENST00000274054.2:c.1334delC	4.37:g.164050200delG	ENSP00000274054:p.Pro446fs		D3DP28|E9PAZ2	Frame_Shift_Del	DEL	pfam_H/ACA_rnp_Gar1/Naf1,superfamily_Transl_B-barrel	p.P445fs	ENST00000274054.2	37	c.1334	CCDS3803.1	4																																																																																			NAF1	-	NULL	ENSG00000145414		0.527	NAF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NAF1	HGNC	protein_coding	OTTHUMT00000364684.2		0.00	23	0	G	NM_138386		164050200	-1	tier1		no_errors	ENST00000274054	ensembl	human	known	74_37	frame_shift_del	8.70	21	2	DEL	0.226	-
NBPF10	100132406	genome.wustl.edu	37	1	145323656	145323656	+	Missense_Mutation	SNP	A	A	T	rs75252120	byFrequency	TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr1:145323656A>T	ENST00000342960.5	+	27	3528	c.3493A>T	c.(3493-3495)Att>Ttt	p.I1165F	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	752						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.I1165F(3)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TATTGCAGGAATTAAAAAGGA	0.473																																																	3	Substitution - Missense(3)	endometrium(2)|kidney(1)																																								SO:0001583	missense	0			BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.3493A>T	1.37:g.145323656A>T	ENSP00000345684:p.Ile1165Phe		Q5RHC0|Q9NWN6	Missense_Mutation	SNP	pfam_NBPF_dom	p.I1165F	ENST00000342960.5	37	c.3493	CCDS53355.1	1	.	.	.	.	.	.	.	.	.	.	.	7.524	0.657305	0.14580	.	.	ENSG00000163386	ENST00000342960	T	0.03441	3.93	.	.	.	.	.	.	.	.	T	0.02342	0.0072	M	0.67953	2.075	0.09310	N	1	.	.	.	.	.	.	T	0.44065	-0.9352	5	0.28530	T	0.3	.	.	.	.	.	.	.	.	F	1165	ENSP00000345684:I1165F	ENSP00000345684:I1165F	I	+	1	0	NBPF10	144035013	0.353000	0.24904	0.005000	0.12908	0.123000	0.20343	1.122000	0.31295	0.386000	0.24997	0.128000	0.15822	ATT	NBPF10	-	NULL	ENSG00000163386		0.473	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NBPF10	HGNC	protein_coding			0.00	56	0	A	NM_001039703		145323656	+1			no_errors	ENST00000342960	ensembl	human	known	74_37	missense	5.62	84	5	SNP	0.007	T
NCKAP5	344148	genome.wustl.edu	37	2	133540288	133540288	+	Missense_Mutation	SNP	T	T	A			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr2:133540288T>A	ENST00000409261.1	-	14	4469	c.4096A>T	c.(4096-4098)Agt>Tgt	p.S1366C	NCKAP5_ENST00000317721.6_Missense_Mutation_p.S1366C|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000473859.1_5'Flank|NCKAP5_ENST00000409213.1_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1366										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GGCAACTTACTTGGGCTCCCA	0.632																																																	0													47.0	48.0	48.0					2																	133540288		1935	4140	6075	SO:0001583	missense	0			AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.4096A>T	2.37:g.133540288T>A	ENSP00000387128:p.Ser1366Cys		B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	NULL	p.S1366C	ENST00000409261.1	37	c.4096	CCDS46418.1	2	.	.	.	.	.	.	.	.	.	.	T	16.87	3.242830	0.58995	.	.	ENSG00000176771	ENST00000409261;ENST00000317721	T;T	0.12361	2.69;2.69	5.5	4.36	0.52297	.	0.144113	0.31221	U	0.008028	T	0.10723	0.0262	L	0.32530	0.975	0.80722	D	1	B	0.21606	0.058	B	0.25291	0.059	T	0.09840	-1.0656	10	0.62326	D	0.03	.	6.1211	0.20154	0.1428:0.0755:0.0:0.7817	.	1366	O14513	NCKP5_HUMAN	C	1366	ENSP00000387128:S1366C;ENSP00000380603:S1366C	ENSP00000380603:S1366C	S	-	1	0	NCKAP5	133256758	0.996000	0.38824	0.995000	0.50966	0.961000	0.63080	1.284000	0.33249	1.104000	0.41587	0.533000	0.62120	AGT	NCKAP5	-	NULL	ENSG00000176771		0.632	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCKAP5	HGNC	protein_coding	OTTHUMT00000331663.1	-	0.00	30	0	T	NM_207481		133540288	-1	tier1	-	no_errors	ENST00000317721	ensembl	human	known	74_37	missense	22.86	27	8	SNP	0.996	A
NCL	4691	genome.wustl.edu	37	2	232323098	232323098	+	Nonsense_Mutation	SNP	G	G	A			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr2:232323098G>A	ENST00000322723.4	-	8	1408	c.1168C>T	c.(1168-1170)Cga>Tga	p.R390*	SNORD82_ENST00000365530.1_RNA|SNORD20_ENST00000384550.1_RNA|SNORA75_ENST00000384158.1_RNA	NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN	nucleolin	390					angiogenesis (GO:0001525)|positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901838)	cell cortex (GO:0005938)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)|telomeric DNA binding (GO:0042162)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		CTCGCATCTCGCTCTAGATTA	0.408																																																	0													63.0	62.0	62.0					2																	232323098		2203	4300	6503	SO:0001587	stop_gained	0				CCDS33397.1	2q37.1	2013-09-19			ENSG00000115053	ENSG00000115053		"""RNA binding motif (RRM) containing"""	7667	protein-coding gene	gene with protein product		164035				2394707, 3409881	Standard	NM_005381		Approved	C23	uc002vru.3	P19338	OTTHUMG00000153866	ENST00000322723.4:c.1168C>T	2.37:g.232323098G>A	ENSP00000318195:p.Arg390*		Q53SK1|Q8NB06|Q9UCF0|Q9UDG1	Nonsense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom	p.R390*	ENST00000322723.4	37	c.1168	CCDS33397.1	2	.	.	.	.	.	.	.	.	.	.	G	39	7.466066	0.98302	.	.	ENSG00000115053	ENST00000322723;ENST00000392033	.	.	.	5.79	4.9	0.64082	.	0.102827	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.1406	12.1136	0.53854	0.0:0.0:0.6688:0.3312	.	.	.	.	X	390;282	.	ENSP00000318195:R390X	R	-	1	2	NCL	232031342	1.000000	0.71417	0.968000	0.41197	0.446000	0.32137	4.310000	0.59141	1.445000	0.47624	-0.320000	0.08662	CGA	NCL	-	NULL	ENSG00000115053		0.408	NCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCL	HGNC	protein_coding	OTTHUMT00000332731.1		0.00	15	0	G	NM_005381		232323098	-1			no_errors	ENST00000322723	ensembl	human	known	74_37	nonsense	6.25	60	4	SNP	1.000	A
NEDD4L	23327	genome.wustl.edu	37	18	56063468	56063468	+	Silent	SNP	G	G	T			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr18:56063468G>T	ENST00000400345.3	+	31	3178	c.2895G>T	c.(2893-2895)gtG>gtT	p.V965V	RP11-845C23.3_ENST00000590318.1_RNA|NEDD4L_ENST00000589054.1_Silent_p.V96V|NEDD4L_ENST00000435432.2_Silent_p.V824V|NEDD4L_ENST00000256830.9_Silent_p.V861V|NEDD4L_ENST00000456986.1_Silent_p.V844V|NEDD4L_ENST00000382850.4_Silent_p.V945V|NEDD4L_ENST00000456173.2_Silent_p.V824V|NEDD4L_ENST00000431212.2_Silent_p.V844V|NEDD4L_ENST00000356462.6_Silent_p.V901V|NEDD4L_ENST00000256832.7_Silent_p.V825V|NEDD4L_ENST00000586263.1_Silent_p.V937V|NEDD4L_ENST00000357895.5_Silent_p.V957V	NM_001144967.2	NP_001138439.1	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase	965	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cellular sodium ion homeostasis (GO:0006883)|excretion (GO:0007588)|gene expression (GO:0010467)|ion transmembrane transport (GO:0034220)|negative regulation of potassium ion transmembrane transport (GO:1901380)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of protein localization to cell surface (GO:2000009)|negative regulation of sodium ion transmembrane transport (GO:1902306)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of cation channel activity (GO:2001259)|positive regulation of caveolin-mediated endocytosis (GO:2001288)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of sodium ion transport (GO:0010765)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane depolarization (GO:0003254)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of protein catabolic process (GO:0042176)|regulation of tight junction assembly (GO:2000810)|response to metal ion (GO:0010038)|response to salt stress (GO:0009651)|sodium ion transport (GO:0006814)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|ventricular cardiac muscle cell action potential (GO:0086005)|viral life cycle (GO:0019058)|viral process (GO:0016032)|water homeostasis (GO:0030104)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ion channel binding (GO:0044325)|ligase activity (GO:0016874)|potassium channel inhibitor activity (GO:0019870)|potassium channel regulator activity (GO:0015459)|sodium channel inhibitor activity (GO:0019871)|sodium channel regulator activity (GO:0017080)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						TCATGGCCGTGGAAAATGCTC	0.438																																																	0													92.0	78.0	83.0					18																	56063468		1868	4114	5982	SO:0001819	synonymous_variant	0			AF210730	CCDS45872.1, CCDS45873.1, CCDS45874.1, CCDS45875.1, CCDS45876.1, CCDS58632.1, CCDS59323.1	18q21.31	2014-08-12	2012-02-23		ENSG00000049759				7728	protein-coding gene	gene with protein product		606384	"""neural precursor cell expressed, developmentally down-regulated 4-like"""			10594025, 11244092, 18322022	Standard	NM_001144965		Approved	KIAA0439, RSP5, NEDD4-2	uc002lgy.3	Q96PU5	OTTHUMG00000179875	ENST00000400345.3:c.2895G>T	18.37:g.56063468G>T			O43165|Q3LSM7|Q7Z5F1|Q7Z5F2|Q7Z5N3|Q8N5A7|Q8WUU9|Q9BW58|Q9H2W4|Q9NT88	Silent	SNP	pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_C2_dom,superfamily_WW_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom,prints_C2_dom	p.V965	ENST00000400345.3	37	c.2895	CCDS45872.1	18																																																																																			NEDD4L	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT	ENSG00000049759		0.438	NEDD4L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NEDD4L	HGNC	protein_coding	OTTHUMT00000448749.1	-	0.00	27	0	G			56063468	+1	tier1	-	no_errors	ENST00000400345	ensembl	human	known	74_37	silent	7.14	65	5	SNP	1.000	T
NEK5	341676	genome.wustl.edu	37	13	52657463	52657463	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr13:52657463G>T	ENST00000355568.4	-	17	1644	c.1505C>A	c.(1504-1506)aCc>aAc	p.T502N		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	502					positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of striated muscle cell differentiation (GO:0051155)		ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		CACCAAATAGGTTTTATGACT	0.428																																																	0													197.0	170.0	179.0					13																	52657463		2203	4300	6503	SO:0001583	missense	0			BC063885	CCDS31979.1	13q14.2	2012-11-15	2012-11-15		ENSG00000197168	ENSG00000197168			7748	protein-coding gene	gene with protein product			"""NIMA (never in mitosis gene a)-related kinase 5"""			9552363	Standard	XM_006719807		Approved		uc001vge.3	Q6P3R8	OTTHUMG00000016957	ENST00000355568.4:c.1505C>A	13.37:g.52657463G>T	ENSP00000347767:p.Thr502Asn		Q5TAP5	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.T502N	ENST00000355568.4	37	c.1505	CCDS31979.1	13	.	.	.	.	.	.	.	.	.	.	G	14.70	2.612833	0.46631	.	.	ENSG00000197168	ENST00000355568	T	0.73789	-0.78	5.63	5.63	0.86233	.	0.280072	0.25692	N	0.028937	T	0.82006	0.4943	L	0.51422	1.61	0.30211	N	0.797745	D	0.89917	1.0	D	0.83275	0.996	T	0.77542	-0.2549	10	0.30078	T	0.28	.	15.1779	0.72931	0.0:0.0:1.0:0.0	.	502	Q6P3R8	NEK5_HUMAN	N	502	ENSP00000347767:T502N	ENSP00000347767:T502N	T	-	2	0	NEK5	51555464	1.000000	0.71417	0.989000	0.46669	0.166000	0.22503	4.746000	0.62133	2.664000	0.90586	0.455000	0.32223	ACC	NEK5	-	NULL	ENSG00000197168		0.428	NEK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEK5	HGNC	protein_coding	OTTHUMT00000045045.3		0.00	26	0	G	NM_199289		52657463	-1			no_errors	ENST00000355568	ensembl	human	known	74_37	missense	6.25	60	4	SNP	0.997	T
NELL1	4745	genome.wustl.edu	37	11	21592431	21592431	+	Missense_Mutation	SNP	A	A	T			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr11:21592431A>T	ENST00000357134.5	+	18	2254	c.2102A>T	c.(2101-2103)aAg>aTg	p.K701M	NELL1_ENST00000298925.5_Missense_Mutation_p.K729M|NELL1_ENST00000325319.5_Missense_Mutation_p.K644M|NELL1_ENST00000532434.1_Missense_Mutation_p.K654M|NELL1_ENST00000529218.1_3'UTR	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	701	VWFC 2. {ECO:0000255|PROSITE- ProRule:PRU00220}.				cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|nervous system development (GO:0007399)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						AATGGTCACAAGCTGTATCGA	0.463																																																	0													198.0	183.0	188.0					11																	21592431		2203	4300	6503	SO:0001583	missense	0			AK127805	CCDS7855.1, CCDS44555.1, CCDS73267.1, CCDS73268.1	11p15.1	2008-02-01	2001-11-28		ENSG00000165973	ENSG00000165973			7750	protein-coding gene	gene with protein product		602319	"""nel (chicken)-like 1"""			8975702	Standard	NM_006157		Approved	IDH3GL, FLJ45906	uc001mqe.3	Q92832	OTTHUMG00000166042	ENST00000357134.5:c.2102A>T	11.37:g.21592431A>T	ENSP00000349654:p.Lys701Met		B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd_dom,pfam_VWF_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_VWC_out,smart_VWF_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_VWF_C	p.K701M	ENST00000357134.5	37	c.2102	CCDS7855.1	11	.	.	.	.	.	.	.	.	.	.	A	16.41	3.114277	0.56505	.	.	ENSG00000165973	ENST00000298925;ENST00000357134;ENST00000325319;ENST00000532434	T;T;T;T	0.73258	-0.73;-0.73;-0.73;-0.73	6.16	6.16	0.99307	von Willebrand factor, type C (3);	0.124870	0.53938	D	0.000053	T	0.69369	0.3103	L	0.33753	1.03	0.41441	D	0.987924	P;P;P;P;P	0.50369	0.73;0.772;0.934;0.708;0.772	P;P;P;B;P	0.52758	0.487;0.622;0.708;0.424;0.622	T	0.68209	-0.5469	10	0.32370	T	0.25	-18.8263	12.5418	0.56174	0.9342:0.0:0.0658:0.0	.	644;729;246;654;701	F5H6I3;B3KXR2;Q8N9Z6;Q92832-2;Q92832	.;.;.;.;NELL1_HUMAN	M	729;701;644;654	ENSP00000298925:K729M;ENSP00000349654:K701M;ENSP00000317837:K644M;ENSP00000437170:K654M	ENSP00000298925:K729M	K	+	2	0	NELL1	21549007	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.381000	0.52455	2.367000	0.80283	0.528000	0.53228	AAG	NELL1	-	pfam_VWF_C,smart_VWC_out,smart_VWF_C,pfscan_VWF_C	ENSG00000165973		0.463	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NELL1	HGNC	protein_coding	OTTHUMT00000387588.1	-	0.00	48	0	A	NM_006157		21592431	+1	tier1	-	no_errors	ENST00000357134	ensembl	human	known	74_37	missense	34.15	27	14	SNP	1.000	T
NEXN	91624	genome.wustl.edu	37	1	78383667	78383667	+	Missense_Mutation	SNP	A	A	T	rs367871780		TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr1:78383667A>T	ENST00000334785.7	+	4	426	c.242A>T	c.(241-243)gAt>gTt	p.D81V	NEXN_ENST00000330010.8_Missense_Mutation_p.D17V|NEXN_ENST00000457030.1_Missense_Mutation_p.D81V|NEXN_ENST00000294624.8_Missense_Mutation_p.D81V	NM_144573.3	NP_653174.3			nexilin (F actin binding protein)											breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		CTTGCTTCTGATGATGAGGAA	0.294																																																	0								A	VAL/ASP,VAL/ASP	3,3621		0,3,1809	101.0	101.0	101.0		50,242	5.7	1.0	1		101	0,8134		0,0,4067	no	missense,missense	NEXN	NM_001172309.1,NM_144573.3	152,152	0,3,5876	TT,TA,AA		0.0,0.0828,0.0255	probably-damaging,probably-damaging	17/612,81/676	78383667	3,11755	1812	4067	5879	SO:0001583	missense	0			AK057954	CCDS41351.1, CCDS53335.1	1p31.1	2014-09-17			ENSG00000162614	ENSG00000162614		"""Immunoglobulin superfamily / I-set domain containing"""	29557	protein-coding gene	gene with protein product		613121				12053183, 8227983	Standard	NM_144573		Approved	nexilin, NELIN	uc001dic.4	Q0ZGT2	OTTHUMG00000040533	ENST00000334785.7:c.242A>T	1.37:g.78383667A>T	ENSP00000333938:p.Asp81Val			Missense_Mutation	SNP	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom	p.D81V	ENST00000334785.7	37	c.242	CCDS41351.1	1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.101773	0.76983	8.28E-4	0.0	ENSG00000162614	ENST00000401035;ENST00000457030;ENST00000330010;ENST00000294624;ENST00000334785;ENST00000440324	T;T;T;T;T;T	0.68479	-0.33;-0.05;-0.04;-0.32;-0.07;-0.33	5.66	5.66	0.87406	.	0.000000	0.53938	D	0.000045	T	0.76730	0.4028	M	0.66939	2.045	0.80722	D	1	D;D;D;B	0.89917	1.0;1.0;0.997;0.162	D;D;D;B	0.97110	0.999;1.0;0.937;0.11	T	0.79759	-0.1668	10	0.72032	D	0.01	-33.5408	16.168	0.81785	1.0:0.0:0.0:0.0	.	17;81;81;17	D3DQ79;Q0ZGT2-2;Q0ZGT2;B4DPZ7	.;.;NEXN_HUMAN;.	V	17;81;17;81;81;81	ENSP00000383814:D17V;ENSP00000388048:D81V;ENSP00000327363:D17V;ENSP00000294624:D81V;ENSP00000333938:D81V;ENSP00000411902:D81V	ENSP00000294624:D81V	D	+	2	0	NEXN	78156255	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	8.396000	0.90190	2.279000	0.76181	0.528000	0.53228	GAT	NEXN	-	NULL	ENSG00000162614		0.294	NEXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEXN	HGNC	protein_coding	OTTHUMT00000097549.1	-	0.00	27	0	A	NM_144573		78383667	+1	tier1	-	no_errors	ENST00000334785	ensembl	human	known	74_37	missense	38.67	46	29	SNP	1.000	T
NIN	51199	genome.wustl.edu	37	14	51233526	51233526	+	Missense_Mutation	SNP	C	C	T			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr14:51233526C>T	ENST00000382041.3	-	13	1707	c.1517G>A	c.(1516-1518)aGa>aAa	p.R506K	NIN_ENST00000382043.4_Missense_Mutation_p.R506K|NIN_ENST00000530997.2_Missense_Mutation_p.R506K|NIN_ENST00000453196.1_Missense_Mutation_p.R506K|NIN_ENST00000389868.3_Missense_Mutation_p.R506K|NIN_ENST00000324330.9_Missense_Mutation_p.R506K|NIN_ENST00000245441.5_Missense_Mutation_p.R506K	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	506					centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					TTCCAAATTTCTCTGAAGTTT	0.373			T	PDGFRB	MPD																																			Dom	yes		14	14q24	51199	ninein (GSK3B interacting protein)		L	0													170.0	161.0	164.0					14																	51233526		2203	4299	6502	SO:0001583	missense	0			AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"""EF-hand domain containing"""	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000382041.3:c.1517G>A	14.37:g.51233526C>T	ENSP00000371472:p.Arg506Lys		A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Missense_Mutation	SNP	superfamily_tRNA-bd_arm,pfscan_EF_hand_dom	p.R506K	ENST00000382041.3	37	c.1517	CCDS32079.1	14	.	.	.	.	.	.	.	.	.	.	C	10.73	1.433460	0.25813	.	.	ENSG00000100503	ENST00000245441;ENST00000389868;ENST00000382043;ENST00000324292;ENST00000382041;ENST00000324330;ENST00000453196	T;T;T;T;T;T	0.20598	3.59;2.06;2.06;2.06;2.06;2.06	5.84	2.46	0.29980	.	0.303403	0.33364	N	0.004982	T	0.11580	0.0282	N	0.19112	0.55	0.31030	N	0.717533	B;B;B;B;P	0.41131	0.063;0.313;0.023;0.012;0.739	B;B;B;B;B	0.39119	0.082;0.221;0.04;0.006;0.291	T	0.11665	-1.0578	10	0.09843	T	0.71	-3.0914	11.3167	0.49396	0.0:0.7536:0.0:0.2464	.	512;506;506;506;506	Q8N4C6-5;C9J066;Q8N4C6;Q5BKU3;Q8N4C6-7	.;.;NIN_HUMAN;.;.	K	506;506;506;512;506;506;506	ENSP00000245441:R506K;ENSP00000374518:R506K;ENSP00000371474:R506K;ENSP00000371472:R506K;ENSP00000324210:R506K;ENSP00000412391:R506K	ENSP00000245441:R506K	R	-	2	0	NIN	50303276	0.019000	0.18553	0.997000	0.53966	0.824000	0.46624	0.109000	0.15417	0.742000	0.32697	-0.345000	0.07892	AGA	NIN	-	superfamily_tRNA-bd_arm	ENSG00000100503		0.373	NIN-016	KNOWN	basic|CCDS	protein_coding	NIN	HGNC	protein_coding	OTTHUMT00000395207.2	-	0.00	30	0	C	NM_182946		51233526	-1	tier1	-	no_errors	ENST00000245441	ensembl	human	known	74_37	missense	73.68	10	28	SNP	0.833	T
NPC1	4864	genome.wustl.edu	37	18	21140316	21140316	+	Missense_Mutation	SNP	G	G	A			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr18:21140316G>A	ENST00000269228.5	-	6	1314	c.760C>T	c.(760-762)Cca>Tca	p.P254S	NPC1_ENST00000540608.1_5'UTR|NPC1_ENST00000412552.2_5'Flank	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	254	Poly-Pro.				adult walking behavior (GO:0007628)|autophagy (GO:0006914)|bile acid metabolic process (GO:0008206)|cellular response to low-density lipoprotein particle stimulus (GO:0071404)|cellular response to steroid hormone stimulus (GO:0071383)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|establishment of protein localization to membrane (GO:0090150)|lysosomal transport (GO:0007041)|membrane raft organization (GO:0031579)|negative regulation of cell death (GO:0060548)|negative regulation of macroautophagy (GO:0016242)|protein glycosylation (GO:0006486)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|membrane raft (GO:0045121)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	cholesterol binding (GO:0015485)|hedgehog receptor activity (GO:0008158)|receptor activity (GO:0004872)|sterol transporter activity (GO:0015248)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					GGAGGAGGTGGGGGCTGGGGC	0.537																																																	0													65.0	58.0	61.0					18																	21140316		2203	4300	6503	SO:0001583	missense	0			AF002020	CCDS11878.1	18q11.2	2014-06-17			ENSG00000141458	ENSG00000141458			7897	protein-coding gene	gene with protein product		607623				8446622	Standard	NM_000271		Approved		uc002kum.4	O15118	OTTHUMG00000131873	ENST00000269228.5:c.760C>T	18.37:g.21140316G>A	ENSP00000269228:p.Pro254Ser		B4DET3|Q9P130	Missense_Mutation	SNP	pfam_Patched,pfam_MMPL_dom,pfscan_SSD,tigrfam_NP_C_type	p.P254S	ENST00000269228.5	37	c.760	CCDS11878.1	18	.	.	.	.	.	.	.	.	.	.	G	17.22	3.334122	0.60853	.	.	ENSG00000141458	ENST00000269228;ENST00000540608	D	0.93547	-3.24	5.87	5.87	0.94306	.	0.050779	0.85682	D	0.000000	D	0.92548	0.7633	L	0.61036	1.89	0.80722	D	1	B;B	0.25486	0.065;0.127	B;B	0.22601	0.04;0.04	D	0.88960	0.3393	10	0.45353	T	0.12	-18.1511	20.206	0.98277	0.0:0.0:1.0:0.0	.	265;254	Q59GR1;O15118	.;NPC1_HUMAN	S	254;99	ENSP00000269228:P254S	ENSP00000269228:P254S	P	-	1	0	NPC1	19394314	1.000000	0.71417	0.997000	0.53966	0.414000	0.31173	9.869000	0.99810	2.785000	0.95823	0.655000	0.94253	CCA	NPC1	-	tigrfam_NP_C_type	ENSG00000141458		0.537	NPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPC1	HGNC	protein_coding	OTTHUMT00000254823.2	-	0.00	19	0	G	NM_000271		21140316	-1	tier1	-	no_errors	ENST00000269228	ensembl	human	known	74_37	missense	30.00	21	9	SNP	1.000	A
NR3C2	4306	genome.wustl.edu	37	4	149181246	149181246	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr4:149181246G>T	ENST00000358102.3	-	3	2143	c.1781C>A	c.(1780-1782)aCt>aAt	p.T594N	NR3C2_ENST00000511528.1_Missense_Mutation_p.T594N|NR3C2_ENST00000355292.3_Missense_Mutation_p.T594N|NR3C2_ENST00000344721.4_Missense_Mutation_p.T594N|NR3C2_ENST00000512865.1_Missense_Mutation_p.T594N	NM_000901.4|NM_001166104.1	NP_000892.2|NP_001159576.1	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	594	Modulating.				gene expression (GO:0010467)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|receptor complex (GO:0043235)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Drospirenone(DB01395)|Eplerenone(DB00700)|Felodipine(DB01023)|Fludrocortisone(DB00687)|Fluticasone Propionate(DB00588)|Nimodipine(DB00393)|Progesterone(DB00396)|Spironolactone(DB00421)	TGAAGATCCAGTAGAAACACT	0.413																																					Melanoma(27;428 957 40335 51025 51111)												0													99.0	95.0	96.0					4																	149181246		2203	4300	6503	SO:0001583	missense	0			M16801	CCDS3772.1, CCDS54811.1	4q31	2013-01-16			ENSG00000151623	ENSG00000151623		"""Nuclear hormone receptors"""	7979	protein-coding gene	gene with protein product		600983		MLR		2558856	Standard	NM_000901		Approved	MR	uc003ilj.4	P08235	OTTHUMG00000161455	ENST00000358102.3:c.1781C>A	4.37:g.149181246G>T	ENSP00000350815:p.Thr594Asn		B0ZBF5|B0ZBF7|Q2NKL1|Q96KQ8|Q96KQ9	Missense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.T594N	ENST00000358102.3	37	c.1781	CCDS3772.1	4	.	.	.	.	.	.	.	.	.	.	G	17.02	3.280677	0.59758	.	.	ENSG00000151623	ENST00000344721;ENST00000355292;ENST00000358102;ENST00000512865;ENST00000544252;ENST00000342437;ENST00000511528	D;D;D;D;D;D	0.90133	-2.62;-2.61;-2.62;-2.26;-2.25;-2.61	5.98	5.98	0.97165	.	0.098316	0.64402	D	0.000002	D	0.83843	0.5342	N	0.19112	0.55	0.44092	D	0.996856	P;B	0.38250	0.624;0.263	B;B	0.32864	0.154;0.104	T	0.81760	-0.0785	9	.	.	.	.	20.452	0.99131	0.0:0.0:1.0:0.0	.	594;594	B0ZBF5;B0ZBF6	.;.	N	594	ENSP00000341390:T594N;ENSP00000347441:T594N;ENSP00000350815:T594N;ENSP00000423510:T594N;ENSP00000343907:T594N;ENSP00000421481:T594N	.	T	-	2	0	NR3C2	149400696	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.983000	0.70540	2.838000	0.97847	0.591000	0.81541	ACT	NR3C2	-	NULL	ENSG00000151623		0.413	NR3C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NR3C2	HGNC	protein_coding	OTTHUMT00000364986.1	-	0.00	44	0	G			149181246	-1	tier1	-	no_errors	ENST00000355292	ensembl	human	known	74_37	missense	6.90	54	4	SNP	1.000	T
NR5A2	2494	genome.wustl.edu	37	1	200017441	200017441	+	Missense_Mutation	SNP	C	C	T			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr1:200017441C>T	ENST00000367362.3	+	5	851	c.605C>T	c.(604-606)gCt>gTt	p.A202V	NR5A2_ENST00000544748.1_Missense_Mutation_p.A130V|NR5A2_ENST00000236914.3_Missense_Mutation_p.A156V	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	202					bile acid metabolic process (GO:0008206)|cholesterol homeostasis (GO:0042632)|embryo development (GO:0009790)|endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|homeostatic process (GO:0042592)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral genome replication (GO:0045070)|regulation of cell proliferation (GO:0042127)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|phospholipid binding (GO:0005543)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					GTGATCCAAGCTATGCCCTCT	0.507																																					Melanoma(179;1138 2773 15678 26136)												0													224.0	202.0	210.0					1																	200017441		2203	4300	6503	SO:0001583	missense	0			U93553	CCDS1400.1, CCDS1401.1, CCDS60383.1	1q32.11	2013-01-16			ENSG00000116833	ENSG00000116833		"""Nuclear hormone receptors"""	7984	protein-coding gene	gene with protein product	"""liver receptor homolog-1"""	604453		FTF		9858833, 7680097	Standard	NM_205860		Approved	FTZ-F1beta, hB1F, LRH-1, FTZ-F1, hB1F-2, B1F2	uc001gvb.4	O00482	OTTHUMG00000035635	ENST00000367362.3:c.605C>T	1.37:g.200017441C>T	ENSP00000356331:p.Ala202Val		B4E2P3|O95642|Q147U3	Missense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pirsf_Steroidogenic_factor_1,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.A202V	ENST00000367362.3	37	c.605	CCDS1401.1	1	.	.	.	.	.	.	.	.	.	.	C	19.80	3.895493	0.72639	.	.	ENSG00000116833	ENST00000367362;ENST00000236914;ENST00000544748;ENST00000235480	D;D;D	0.94417	-3.38;-3.42;-3.41	5.43	5.43	0.79202	Nuclear hormone receptor, ligand-binding (1);	0.097154	0.64402	D	0.000001	D	0.91958	0.7453	L	0.42245	1.32	0.58432	D	0.999999	B;B	0.11235	0.002;0.004	B;B	0.12156	0.007;0.003	D	0.87504	0.2435	9	.	.	.	.	19.6064	0.95583	0.0:1.0:0.0:0.0	.	156;202	F1D8R9;O00482	.;NR5A2_HUMAN	V	202;156;130;122	ENSP00000356331:A202V;ENSP00000236914:A156V;ENSP00000439116:A130V	.	A	+	2	0	NR5A2	198284064	1.000000	0.71417	0.862000	0.33874	0.988000	0.76386	5.689000	0.68234	2.697000	0.92050	0.563000	0.77884	GCT	NR5A2	-	superfamily_Nucl_hormone_rcpt_ligand-bd,pirsf_Steroidogenic_factor_1	ENSG00000116833		0.507	NR5A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NR5A2	HGNC	protein_coding	OTTHUMT00000086497.2	-	0.00	43	0	C			200017441	+1	tier1	-	no_errors	ENST00000367362	ensembl	human	known	74_37	missense	47.37	40	36	SNP	1.000	T
NTN5	126147	genome.wustl.edu	37	19	49174223	49174223	+	Silent	SNP	G	G	T			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr19:49174223G>T	ENST00000270235.4	-	2	116	c.21C>A	c.(19-21)ctC>ctA	p.L7L	SEC1P_ENST00000430145.2_RNA	NM_145807.1	NP_665806.1	Q8WTR8	NET5_HUMAN	netrin 5	7						extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	10						GGAGGAGCAGGAGGGCAAAGG	0.677																																																	0													10.0	11.0	11.0					19																	49174223		2163	4222	6385	SO:0001819	synonymous_variant	0				CCDS33068.1	19q13.33	2013-03-01			ENSG00000142233	ENSG00000142233		"""Netrins"""	25208	protein-coding gene	gene with protein product	"""Netrin-5"""					12477932	Standard	NM_145807		Approved		uc002pkb.3	Q8WTR8		ENST00000270235.4:c.21C>A	19.37:g.49174223G>T			Q8N4X9|Q8WU63	Silent	SNP	pfam_Netrin_module_non-TIMP,pfam_EGF_laminin,superfamily_TIMP-like_OB-fold,smart_EGF_laminin,smart_Netrin_module_non-TIMP,pfscan_EGF_laminin,pfscan_Netrin_domain	p.L7	ENST00000270235.4	37	c.21	CCDS33068.1	19																																																																																			NTN5	-	NULL	ENSG00000142233		0.677	NTN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NTN5	HGNC	protein_coding	OTTHUMT00000466176.1		0.00	63	0	G	NM_145807		49174223	-1			no_errors	ENST00000270235	ensembl	human	known	74_37	silent	7.89	35	3	SNP	0.990	T
NUP107	57122	genome.wustl.edu	37	12	69126365	69126366	+	Intron	INS	-	-	A			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr12:69126365_69126366insA	ENST00000229179.4	+	23	2330				NUP107_ENST00000378905.2_Intron|NUP107_ENST00000539906.1_Intron|NUP107_ENST00000401003.3_3'UTR	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa						carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|structural constituent of nuclear pore (GO:0017056)		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			AGAATATCTTTAAAAAAAAAAC	0.287																																																	0																																										SO:0001627	intron_variant	0			AK055629	CCDS8985.1	12q14	2004-03-19			ENSG00000111581	ENSG00000111581			29914	protein-coding gene	gene with protein product		607617				12552102, 12705868	Standard	XM_005269037		Approved	NUP84	uc001suf.3	P57740	OTTHUMG00000169265	ENST00000229179.4:c.1999-51->A	12.37:g.69126375_69126375dupA			B4DZ67|Q6PJE1	RNA	INS	-	NULL	ENST00000229179.4	37	NULL	CCDS8985.1	12																																																																																			NUP107	-	-	ENSG00000111581		0.287	NUP107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP107	HGNC	protein_coding	OTTHUMT00000403195.1		0.00	30	0	-	NM_020401		69126366	+1	tier1		no_errors	ENST00000401003	ensembl	human	known	74_37	rna	17.86	46	10	INS	0.000:0.000	A
NUP133	55746	genome.wustl.edu	37	1	229631291	229631291	+	Missense_Mutation	SNP	C	C	A			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr1:229631291C>A	ENST00000261396.3	-	8	1088	c.997G>T	c.(997-999)Gct>Tct	p.A333S	NUP133_ENST00000537506.1_Missense_Mutation_p.A317S	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	333					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore organization (GO:0006999)|paraxial mesoderm development (GO:0048339)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)			NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				TCTTTAATAGCTTCATAGTTA	0.318																																																	0													129.0	121.0	123.0					1																	229631291		2201	4299	6500	SO:0001583	missense	0				CCDS1579.1	1q42.13	2008-02-05	2002-08-29		ENSG00000069248	ENSG00000069248			18016	protein-coding gene	gene with protein product		607613	"""nucleoporin 133kD"""			11684705	Standard	NM_018230		Approved	FLJ10814	uc001htn.3	Q8WUM0	OTTHUMG00000039462	ENST00000261396.3:c.997G>T	1.37:g.229631291C>A	ENSP00000261396:p.Ala333Ser		B2RAZ8|Q5T8N0|Q9H9W2|Q9NV71|Q9NVC4	Missense_Mutation	SNP	pfam_Nucleoporin_Nup133/Nup155_C,pfam_Nucleoporin_Nup133/Nup155_N	p.A333S	ENST00000261396.3	37	c.997	CCDS1579.1	1	.	.	.	.	.	.	.	.	.	.	C	10.97	1.500751	0.26861	.	.	ENSG00000069248	ENST00000366681;ENST00000261396;ENST00000366679;ENST00000537506	T;T;T	0.20598	2.06;2.06;2.06	5.59	4.68	0.58851	WD40/YVTN repeat-like-containing domain (1);Nucleoporin, Nup133/Nup155-like, N-terminal (1);	0.153861	0.64402	D	0.000018	T	0.15998	0.0385	L	0.36672	1.1	0.33385	D	0.575308	B	0.14012	0.009	B	0.12156	0.007	T	0.15636	-1.0430	10	0.09084	T	0.74	-16.1434	13.5385	0.61659	0.0:0.9251:0.0:0.0749	.	333	Q8WUM0	NU133_HUMAN	S	333;333;333;317	ENSP00000261396:A333S;ENSP00000355640:A333S;ENSP00000443496:A317S	ENSP00000261396:A333S	A	-	1	0	NUP133	227697914	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.636000	0.54317	1.362000	0.46000	0.650000	0.86243	GCT	NUP133	-	pfam_Nucleoporin_Nup133/Nup155_N	ENSG00000069248		0.318	NUP133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP133	HGNC	protein_coding	OTTHUMT00000095224.1	-	0.00	18	0	C	NM_018230		229631291	-1	tier1	-	no_errors	ENST00000261396	ensembl	human	known	74_37	missense	30.00	21	9	SNP	1.000	A
NUP93	9688	genome.wustl.edu	37	16	56782289	56782289	+	Missense_Mutation	SNP	C	C	T			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr16:56782289C>T	ENST00000308159.5	+	2	251	c.130C>T	c.(130-132)Cgt>Tgt	p.R44C	NUP93_ENST00000569842.1_Missense_Mutation_p.R44C	NM_014669.4	NP_055484.3	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	44					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						AGAGCGCCTGCGTTCCCGTAC	0.587																																					Colon(33;610 796 1305 1705 38917)												0													49.0	46.0	47.0					16																	56782289		2198	4300	6498	SO:0001583	missense	0			D42085	CCDS10769.1, CCDS55996.1	16q13	2008-02-05			ENSG00000102900	ENSG00000102900			28958	protein-coding gene	gene with protein product		614351				9348540, 9531546	Standard	NM_014669		Approved	KIAA0095	uc002eka.3	Q8N1F7	OTTHUMG00000133278	ENST00000308159.5:c.130C>T	16.37:g.56782289C>T	ENSP00000310668:p.Arg44Cys		B3KPQ8|Q14705	Missense_Mutation	SNP	pfam_Nucleoporin_int_Nup93/Nic96	p.R44C	ENST00000308159.5	37	c.130	CCDS10769.1	16	.	.	.	.	.	.	.	.	.	.	C	19.82	3.898105	0.72639	.	.	ENSG00000102900	ENST00000308159	T	0.49432	0.78	6.16	4.24	0.50183	.	0.046027	0.85682	N	0.000000	T	0.38268	0.1034	L	0.40543	1.245	0.80722	D	1	D	0.55172	0.97	B	0.40534	0.332	T	0.16100	-1.0414	10	0.38643	T	0.18	-5.2788	13.4031	0.60893	0.0:0.8734:0.0:0.1266	.	44	Q8N1F7	NUP93_HUMAN	C	44	ENSP00000310668:R44C	ENSP00000310668:R44C	R	+	1	0	NUP93	55339790	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.895000	0.56258	0.958000	0.37956	-0.133000	0.14855	CGT	NUP93	-	NULL	ENSG00000102900		0.587	NUP93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP93	HGNC	protein_coding	OTTHUMT00000257058.4	-	0.00	40	0	C	NM_014669		56782289	+1	tier1	-	no_errors	ENST00000308159	ensembl	human	known	74_37	missense	73.91	6	17	SNP	1.000	T
OGDHL	55753	genome.wustl.edu	37	10	50951015	50951015	+	Missense_Mutation	SNP	C	C	T			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr10:50951015C>T	ENST00000374103.4	-	15	1956	c.1871G>A	c.(1870-1872)cGc>cAc	p.R624H	OGDHL_ENST00000419399.1_Missense_Mutation_p.R567H|OGDHL_ENST00000432695.1_Missense_Mutation_p.R415H	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	624					glycolytic process (GO:0006096)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)	p.R624H(1)		central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						CCGCAGAATGCGAGAGAGGCC	0.642																																																	1	Substitution - Missense(1)	large_intestine(1)											49.0	45.0	46.0					10																	50951015		2203	4300	6503	SO:0001583	missense	0			AK001713	CCDS7234.1, CCDS44390.1, CCDS44391.1	10q11.23	2013-09-20			ENSG00000197444	ENSG00000197444			25590	protein-coding gene	gene with protein product						10574462	Standard	NM_018245		Approved	FLJ10851	uc001jie.3	Q9ULD0	OTTHUMG00000018200	ENST00000374103.4:c.1871G>A	10.37:g.50951015C>T	ENSP00000363216:p.Arg624His		A8K2G1|B4DKG2|B4E193|Q8TAN9|Q9NVA0	Missense_Mutation	SNP	pfam_DH_E1,pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1	p.R624H	ENST00000374103.4	37	c.1871	CCDS7234.1	10	.	.	.	.	.	.	.	.	.	.	c	27.5	4.837953	0.91117	.	.	ENSG00000197444	ENST00000374103;ENST00000419399;ENST00000432695	T;T;T	0.07688	3.17;3.19;3.22	5.22	4.32	0.51571	.	0.000000	0.85682	D	0.000000	T	0.39572	0.1083	H	0.94264	3.515	0.58432	D	0.99999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.994;0.996	T	0.56565	-0.7958	10	0.87932	D	0	.	14.0685	0.64847	0.0:0.9269:0.0:0.0731	.	567;415;624	Q9ULD0-2;Q9ULD0-3;Q9ULD0	.;.;OGDHL_HUMAN	H	624;567;415	ENSP00000363216:R624H;ENSP00000401356:R567H;ENSP00000390240:R415H	ENSP00000363216:R624H	R	-	2	0	OGDHL	50621021	1.000000	0.71417	0.987000	0.45799	0.813000	0.45954	5.888000	0.69758	1.327000	0.45338	0.651000	0.88453	CGC	OGDHL	-	pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1	ENSG00000197444		0.642	OGDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OGDHL	HGNC	protein_coding	OTTHUMT00000048007.1	-	0.00	50	0	C	NM_018245		50951015	-1	tier1	-	no_errors	ENST00000374103	ensembl	human	known	74_37	missense	40.82	29	20	SNP	1.000	T
OGG1	4968	genome.wustl.edu	37	3	9792631	9792631	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr3:9792631G>T	ENST00000344629.7	+	2	483	c.140G>T	c.(139-141)tGg>tTg	p.W47L	OGG1_ENST00000302008.8_Missense_Mutation_p.W47L|OGG1_ENST00000349503.5_Missense_Mutation_p.W47L|OGG1_ENST00000302003.7_Missense_Mutation_p.W47L|OGG1_ENST00000383826.5_Missense_Mutation_p.W47L|OGG1_ENST00000302036.7_Missense_Mutation_p.W47L|OGG1_ENST00000436092.1_3'UTR|OGG1_ENST00000339511.5_Missense_Mutation_p.W47L|OGG1_ENST00000449570.2_Missense_Mutation_p.W47L			O15527	OGG1_HUMAN	8-oxoguanine DNA glycosylase	47				W -> WW (in Ref. 9; CAA10351). {ECO:0000305}.	acute inflammatory response (GO:0002526)|base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|cellular response to cadmium ion (GO:0071276)|depurination (GO:0045007)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair (GO:0006289)|regulation of protein import into nucleus, translocation (GO:0033158)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|response to oxidative stress (GO:0006979)|response to radiation (GO:0009314)	mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	8-oxo-7,8-dihydroguanine DNA N-glycosylase activity (GO:0034039)|damaged DNA binding (GO:0003684)|endonuclease activity (GO:0004519)|oxidized purine nucleobase lesion DNA N-glycosylase activity (GO:0008534)			kidney(2)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	8	Medulloblastoma(99;0.227)					GGGCTCAGGTGGAGGGAGCAA	0.522								Base excision repair (BER), DNA glycosylases																																									0													87.0	71.0	76.0					3																	9792631		2203	4300	6503	SO:0001583	missense	0			U96710	CCDS2576.1, CCDS2577.1, CCDS2578.1, CCDS2579.1, CCDS2580.1, CCDS2581.1, CCDS43046.1, CCDS46742.1	3p26	2010-11-23			ENSG00000114026	ENSG00000114026	3.2.2.-, 4.2.99.18		8125	protein-coding gene	gene with protein product	"""8-hydroxyguanine DNA glycosylase"", ""OGG1 type 1e"", ""OGG1 type 1d"", ""OGG1 type 1g"", ""OGG1 type 1h"""	601982				9207108, 10449904	Standard	NM_002542		Approved	HMMH, HOGG1, OGH1, MUTM	uc003bsj.3	O15527	OTTHUMG00000097091	ENST00000344629.7:c.140G>T	3.37:g.9792631G>T	ENSP00000342851:p.Trp47Leu		A8K1E3|O00390|O00670|O00705|O14876|O95488|P78554|Q9BW42|Q9UIK0|Q9UIK1|Q9UIK2|Q9UL34|Q9Y2C0|Q9Y2C1|Q9Y6C3|Q9Y6C4	Missense_Mutation	SNP	pfam_OGG_N,pfam_HhH-GPD_domain,superfamily_DNA_glycosylase,smart_HhH-GPD_domain,tigrfam_Ogg	p.W47L	ENST00000344629.7	37	c.140	CCDS2581.1	3	.	.	.	.	.	.	.	.	.	.	G	26.5	4.745726	0.89663	.	.	ENSG00000114026	ENST00000302003;ENST00000344629;ENST00000302036;ENST00000349503;ENST00000339511;ENST00000449570;ENST00000302008;ENST00000383826	D;D;D;D;D;D;D;D	0.84298	-1.83;-1.83;-1.83;-1.83;-1.83;-1.83;-1.83;-1.83	5.54	5.54	0.83059	8-oxoguanine DNA glycosylase, N-terminal (1);Transcription factor TFIID, C-terminal/DNA glycosylase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.95462	0.8526	H	0.96604	3.85	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.96696	0.9514	10	0.87932	D	0	-12.5856	19.4954	0.95070	0.0:0.0:1.0:0.0	.	47;47;47;47;47;47;47;47	E5KPM8;E5KPM6;E5KPM5;E5KPM7;E5KPM9;E5KPN0;O15527;O15527-2	.;.;.;.;.;.;OGG1_HUMAN;.	L	47	ENSP00000305584:W47L;ENSP00000342851:W47L;ENSP00000306561:W47L;ENSP00000303132:W47L;ENSP00000345520:W47L;ENSP00000403598:W47L;ENSP00000305527:W47L;ENSP00000373337:W47L	ENSP00000305584:W47L	W	+	2	0	OGG1	9767631	1.000000	0.71417	1.000000	0.80357	0.658000	0.38924	7.969000	0.87988	2.607000	0.88179	0.655000	0.94253	TGG	OGG1	-	pfam_OGG_N,tigrfam_Ogg	ENSG00000114026		0.522	OGG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	OGG1	HGNC	protein_coding	OTTHUMT00000214223.2	-	0.00	42	0	G	NM_016821		9792631	+1	tier1	-	no_errors	ENST00000302036	ensembl	human	known	74_37	missense	10.20	44	5	SNP	1.000	T
OR10A2	341276	genome.wustl.edu	37	11	6891759	6891759	+	Silent	SNP	G	G	A			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr11:6891759G>A	ENST00000307322.4	+	1	836	c.774G>A	c.(772-774)aaG>aaA	p.K258K		NM_001004460.1	NP_001004460.1	Q9H208	O10A2_HUMAN	olfactory receptor, family 10, subfamily A, member 2	258			K -> T (in dbSNP:rs7926083).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CTGAGGGCAAGAAGCTGCTAT	0.438																																																	0													189.0	177.0	181.0					11																	6891759		2201	4296	6497	SO:0001819	synonymous_variant	0			BK004293	CCDS31415.1	11p15.4	2012-08-09		2004-03-10	ENSG00000170790	ENSG00000170790		"""GPCR / Class A : Olfactory receptors"""	8161	protein-coding gene	gene with protein product				OR10A2P			Standard	NM_001004460		Approved	OST363	uc001meu.1	Q9H208	OTTHUMG00000165739	ENST00000307322.4:c.774G>A	11.37:g.6891759G>A			B2RNL9|Q6IFG9	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.K258	ENST00000307322.4	37	c.774	CCDS31415.1	11																																																																																			OR10A2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000170790		0.438	OR10A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10A2	HGNC	protein_coding	OTTHUMT00000385984.1	-	0.00	34	0	G	NM_001004460		6891759	+1	tier1	-	no_errors	ENST00000307322	ensembl	human	known	74_37	silent	37.88	41	25	SNP	0.953	A
OR10Z1	128368	genome.wustl.edu	37	1	158576277	158576277	+	Missense_Mutation	SNP	T	T	C	rs369776894		TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr1:158576277T>C	ENST00000361284.1	+	1	49	c.49T>C	c.(49-51)Ttc>Ctc	p.F17L		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	17						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					CTTCCTGGGCTTCTCCAGTTC	0.473																																																	0													147.0	147.0	147.0					1																	158576277		2203	4300	6503	SO:0001583	missense	0			AB065635	CCDS30901.1	1q23.1	2012-08-23			ENSG00000198967	ENSG00000198967		"""GPCR / Class A : Olfactory receptors"""	14996	protein-coding gene	gene with protein product							Standard	NM_001004478		Approved		uc010pio.2	Q8NGY1	OTTHUMG00000019637	ENST00000361284.1:c.49T>C	1.37:g.158576277T>C	ENSP00000354707:p.Phe17Leu		Q5VYL0|Q6IFR7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F17L	ENST00000361284.1	37	c.49	CCDS30901.1	1	.	.	.	.	.	.	.	.	.	.	T	13.39	2.224208	0.39300	.	.	ENSG00000198967	ENST00000361284	T	0.00537	6.72	5.25	5.25	0.73442	.	0.000000	0.41396	D	0.000895	T	0.00271	0.0008	L	0.51853	1.615	0.29146	N	0.878706	B	0.30033	0.266	B	0.26614	0.071	T	0.48736	-0.9009	10	0.30854	T	0.27	.	13.172	0.59604	0.0:0.0:0.0:1.0	.	17	Q8NGY1	O10Z1_HUMAN	L	17	ENSP00000354707:F17L	ENSP00000354707:F17L	F	+	1	0	OR10Z1	156842901	0.952000	0.32445	0.982000	0.44146	0.557000	0.35523	1.739000	0.38217	2.205000	0.71048	0.533000	0.62120	TTC	OR10Z1	-	NULL	ENSG00000198967		0.473	OR10Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10Z1	HGNC	protein_coding	OTTHUMT00000051853.1	-	0.00	20	0	T	NM_001004478		158576277	+1	tier1	-	no_errors	ENST00000361284	ensembl	human	known	74_37	missense	62.07	11	18	SNP	0.994	C
OR2J3	442186	genome.wustl.edu	37	6	29079992	29079992	+	Missense_Mutation	SNP	G	G	A	rs201612570	byFrequency	TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr6:29079992G>A	ENST00000377169.1	+	1	325	c.325G>A	c.(325-327)Gca>Aca	p.A109T		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	109						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						CTTTGTTCTCGCACTGGGAAC	0.502																																																	0													261.0	290.0	280.0					6																	29079992		1335	2621	3956	SO:0001583	missense	0				CCDS43433.1	6p22.2-p21.31	2012-08-09			ENSG00000204701	ENSG00000204701		"""GPCR / Class A : Olfactory receptors"""	8261	protein-coding gene	gene with protein product		615016					Standard	NM_001005216		Approved	OR6-6	uc011dll.2	O76001	OTTHUMG00000031092	ENST00000377169.1:c.325G>A	6.37:g.29079992G>A	ENSP00000366374:p.Ala109Thr		B0UY52|B9EH11|Q5SUJ7|Q6IF25|Q96R15|Q9GZK5|Q9GZL4|Q9GZL5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A109T	ENST00000377169.1	37	c.325	CCDS43433.1	6	.	.	.	.	.	.	.	.	.	.	G	8.493	0.862558	0.17178	.	.	ENSG00000204701	ENST00000377169	T	0.02140	4.43	2.78	1.89	0.25635	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00637	0.0021	L	0.31578	0.945	0.09310	N	0.999996	P	0.37525	0.598	B	0.35073	0.195	T	0.49273	-0.8957	9	0.39692	T	0.17	.	4.2131	0.10521	0.1308:0.0:0.4727:0.3964	.	109	O76001	OR2J3_HUMAN	T	109	ENSP00000366374:A109T	ENSP00000366374:A109T	A	+	1	0	OR2J3	29187971	0.000000	0.05858	0.269000	0.24586	0.104000	0.19210	-0.196000	0.09532	0.491000	0.27793	-0.436000	0.05848	GCA	OR2J3	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000204701		0.502	OR2J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2J3	HGNC	protein_coding	OTTHUMT00000076132.2		0.00	49	0	G			29079992	+1			no_errors	ENST00000377169	ensembl	human	known	74_37	missense	5.00	95	5	SNP	0.183	A
OR2L8	391190	genome.wustl.edu	37	1	248112865	248112865	+	Missense_Mutation	SNP	G	G	A			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr1:248112865G>A	ENST00000357191.3	+	1	706	c.706G>A	c.(706-708)Gcc>Acc	p.A236T	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	236						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			GAGGAAGAAAGCCTATTTGAC	0.453																																																	0													179.0	126.0	144.0					1																	248112865		2203	4300	6503	SO:0001583	missense	0			BK004459	CCDS31101.1	1q44	2013-10-10	2013-10-10		ENSG00000196936	ENSG00000196936		"""GPCR / Class A : Olfactory receptors"""	15014	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily L, member 8"""				Standard	NM_001001963		Approved		uc001idt.1	Q8NGY9	OTTHUMG00000040196	ENST00000357191.3:c.706G>A	1.37:g.248112865G>A	ENSP00000349719:p.Ala236Thr		Q6IF03	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A236T	ENST00000357191.3	37	c.706	CCDS31101.1	1	.	.	.	.	.	.	.	.	.	.	.	8.408	0.843411	0.16963	.	.	ENSG00000196936	ENST00000357191	T	0.00357	7.89	1.8	1.8	0.24995	GPCR, rhodopsin-like superfamily (1);	0.276184	0.19148	U	0.121503	T	0.00412	0.0013	M	0.67625	2.065	0.09310	N	1	P	0.46706	0.883	P	0.50162	0.633	T	0.46693	-0.9173	10	0.72032	D	0.01	.	10.6261	0.45508	0.0:0.0:1.0:0.0	.	236	Q8NGY9	OR2L8_HUMAN	T	236	ENSP00000349719:A236T	ENSP00000349719:A236T	A	+	1	0	OR2L8	246179488	0.351000	0.24887	0.045000	0.18777	0.038000	0.13279	1.552000	0.36244	1.010000	0.39314	0.485000	0.47835	GCC	OR2L8	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000196936		0.453	OR2L8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2L8	HGNC	protein_coding	OTTHUMT00000096853.2	-	0.00	53	0	G			248112865	+1	tier1	-	no_errors	ENST00000357191	ensembl	human	known	74_37	missense	43.36	64	49	SNP	0.054	A
OR4C12	283093	genome.wustl.edu	37	11	50003113	50003113	+	Missense_Mutation	SNP	C	C	A			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr11:50003113C>A	ENST00000335238.4	-	1	958	c.925G>T	c.(925-927)Gat>Tat	p.D309Y		NM_001005270.2	NP_001005270.2	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C, member 12	309						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D309Y(1)		NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						CTTATTTAATCATTATCTGAA	0.378																																																	1	Substitution - Missense(1)	lung(1)											55.0	51.0	53.0					11																	50003113		2201	4296	6497	SO:0001583	missense	0			BK004413	CCDS31496.1	11p11.12	2012-08-09			ENSG00000221954	ENSG00000221954		"""GPCR / Class A : Olfactory receptors"""	15168	protein-coding gene	gene with protein product							Standard	NM_001005270		Approved		uc010ria.2	Q96R67	OTTHUMG00000166687	ENST00000335238.4:c.925G>T	11.37:g.50003113C>A	ENSP00000334418:p.Asp309Tyr		B2RNF0|Q6IF49	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.D309Y	ENST00000335238.4	37	c.925	CCDS31496.1	11	.	.	.	.	.	.	.	.	.	.	.	10.26	1.299919	0.23650	.	.	ENSG00000221954	ENST00000335238	T	0.01119	5.31	2.98	-5.97	0.02227	.	.	.	.	.	T	0.00580	0.0019	N	0.08118	0	0.09310	N	1	P	0.43973	0.823	B	0.36766	0.232	T	0.45512	-0.9256	9	0.87932	D	0	.	3.7601	0.08601	0.125:0.1229:0.1252:0.6269	.	309	Q96R67	OR4CC_HUMAN	Y	309	ENSP00000334418:D309Y	ENSP00000334418:D309Y	D	-	1	0	OR4C12	49959689	0.000000	0.05858	0.000000	0.03702	0.493000	0.33554	-0.549000	0.06041	-1.744000	0.01338	0.398000	0.26397	GAT	OR4C12	-	NULL	ENSG00000221954		0.378	OR4C12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C12	HGNC	protein_coding	OTTHUMT00000391104.1		0.00	15	0	C	NM_001005270		50003113	-1			no_errors	ENST00000335238	ensembl	human	known	74_37	missense	9.52	19	2	SNP	0.000	A
OR4C16	219428	genome.wustl.edu	37	11	55340159	55340159	+	Missense_Mutation	SNP	G	G	A			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr11:55340159G>A	ENST00000314634.3	+	1	556	c.556G>A	c.(556-558)Gcc>Acc	p.A186T		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	186						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				GTTGAAACAAGCCTGTTCAGA	0.428																																																	0													102.0	96.0	98.0					11																	55340159		2201	4296	6497	SO:0001583	missense	0			AB065773	CCDS31502.1	11q11	2013-10-10	2013-10-10		ENSG00000181935	ENSG00000181935		"""GPCR / Class A : Olfactory receptors"""	15172	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily C, member 16"""				Standard	NM_001004701		Approved		uc010rih.2	Q8NGL9	OTTHUMG00000165198	ENST00000314634.3:c.556G>A	11.37:g.55340159G>A	ENSP00000324913:p.Ala186Thr		Q6IEV8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A186T	ENST00000314634.3	37	c.556	CCDS31502.1	11	.	.	.	.	.	.	.	.	.	.	G	14.41	2.525897	0.44969	.	.	ENSG00000181935	ENST00000314634	T	0.00193	8.58	4.98	4.98	0.66077	GPCR, rhodopsin-like superfamily (1);	0.095306	0.46145	D	0.000313	T	0.00412	0.0013	M	0.80982	2.52	0.24933	N	0.991901	P	0.41214	0.742	P	0.51453	0.67	T	0.29488	-1.0010	10	0.72032	D	0.01	.	10.7795	0.46369	0.0:0.0:0.8109:0.1891	.	186	Q8NGL9	OR4CG_HUMAN	T	186	ENSP00000324913:A186T	ENSP00000324913:A186T	A	+	1	0	OR4C16	55096735	0.000000	0.05858	0.865000	0.33974	0.320000	0.28249	-0.186000	0.09670	2.595000	0.87683	0.549000	0.68633	GCC	OR4C16	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000181935		0.428	OR4C16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C16	HGNC	protein_coding	OTTHUMT00000382627.1	-	0.00	40	0	G	NM_001004701		55340159	+1	tier1	-	no_errors	ENST00000314634	ensembl	human	known	74_37	missense	45.21	40	33	SNP	0.563	A
OR5L1	219437	genome.wustl.edu	37	11	55579180	55579180	+	Missense_Mutation	SNP	A	A	C			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr11:55579180A>C	ENST00000333973.2	+	1	327	c.238A>C	c.(238-240)Aaa>Caa	p.K80Q		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	80						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				AATTGTGCCAAAAATGTTGGC	0.453																																																	0													233.0	215.0	221.0					11																	55579180		2200	4296	6496	SO:0001583	missense	0			AB065780	CCDS31509.1	11q11	2012-08-09			ENSG00000186117	ENSG00000186117		"""GPCR / Class A : Olfactory receptors"""	8350	protein-coding gene	gene with protein product							Standard	NM_001004738		Approved	OST262	uc001nhw.1	Q8NGL2	OTTHUMG00000166810	ENST00000333973.2:c.238A>C	11.37:g.55579180A>C	ENSP00000335529:p.Lys80Gln		B2RNK6|Q6IFD0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.K80Q	ENST00000333973.2	37	c.238	CCDS31509.1	11	.	.	.	.	.	.	.	.	.	.	a	14.01	2.406690	0.42715	.	.	ENSG00000186117	ENST00000333973	T	0.03301	3.98	4.32	4.32	0.51571	GPCR, rhodopsin-like superfamily (1);	0.118214	0.37906	N	0.001882	T	0.04588	0.0125	N	0.25890	0.77	0.09310	N	1	P	0.45672	0.864	P	0.46885	0.53	T	0.32824	-0.9892	10	0.52906	T	0.07	-28.0393	9.4294	0.38601	0.8213:0.1787:0.0:0.0	.	80	Q8NGL2	OR5L1_HUMAN	Q	80	ENSP00000335529:K80Q	ENSP00000335529:K80Q	K	+	1	0	OR5L1	55335756	0.779000	0.28652	0.009000	0.14445	0.033000	0.12548	4.681000	0.61663	1.608000	0.50180	0.358000	0.22013	AAA	OR5L1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000186117		0.453	OR5L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5L1	HGNC	protein_coding	OTTHUMT00000391514.1	-	0.00	64	0	A	NM_001004738		55579180	+1	tier1	-	no_errors	ENST00000333973	ensembl	human	known	74_37	missense	45.92	53	45	SNP	0.019	C
OR5W2	390148	genome.wustl.edu	37	11	55681965	55681965	+	Missense_Mutation	SNP	A	A	C			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr11:55681965A>C	ENST00000344514.1	-	1	93	c.94T>G	c.(94-96)Ttg>Gtg	p.L32V		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	32						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TAAACAGCCAAGAATACAGCA	0.353																																					Melanoma(48;171 1190 15239 43886 49348)												0													66.0	69.0	68.0					11																	55681965		2201	4296	6497	SO:0001583	missense	0			BK004398	CCDS31513.1	11q11	2012-08-09		2004-03-10	ENSG00000187612	ENSG00000187612		"""GPCR / Class A : Olfactory receptors"""	15299	protein-coding gene	gene with protein product				OR5W2P, OR5W3P			Standard	NM_001001960		Approved		uc010rir.2	Q8NH69	OTTHUMG00000166818	ENST00000344514.1:c.94T>G	11.37:g.55681965A>C	ENSP00000342448:p.Leu32Val			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L32V	ENST00000344514.1	37	c.94	CCDS31513.1	11	.	.	.	.	.	.	.	.	.	.	A	11.00	1.510871	0.27036	.	.	ENSG00000187612	ENST00000344514	T	0.01902	4.57	5.01	1.98	0.26296	.	0.000000	0.31082	N	0.008285	T	0.05914	0.0154	M	0.89030	3	0.09310	N	1	B	0.22480	0.07	B	0.30782	0.12	T	0.16012	-1.0417	10	0.66056	D	0.02	.	7.9424	0.29965	0.089:0.3056:0.6055:0.0	.	32	Q8NH69	OR5W2_HUMAN	V	32	ENSP00000342448:L32V	ENSP00000342448:L32V	L	-	1	2	OR5W2	55438541	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.109000	0.10840	0.114000	0.18032	-0.384000	0.06662	TTG	OR5W2	-	prints_GPCR_Rhodpsn	ENSG00000187612		0.353	OR5W2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5W2	HGNC	protein_coding	OTTHUMT00000391523.1	-	0.00	41	0	A	NM_001001960		55681965	-1	tier1	-	no_errors	ENST00000344514	ensembl	human	known	74_37	missense	43.53	48	37	SNP	0.017	C
OR5T3	390154	genome.wustl.edu	37	11	56020653	56020653	+	Missense_Mutation	SNP	A	A	C			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr11:56020653A>C	ENST00000303059.3	+	1	978	c.978A>C	c.(976-978)gaA>gaC	p.E326D		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	326						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					GGAACAAAGAAGTAAAAAAGG	0.323																																																	0													42.0	40.0	41.0					11																	56020653		2201	4293	6494	SO:0001583	missense	0			AB065837	CCDS31524.1	11q11	2012-08-09			ENSG00000172489	ENSG00000172489		"""GPCR / Class A : Olfactory receptors"""	15297	protein-coding gene	gene with protein product							Standard	NM_001004747		Approved	OR5T3Q	uc010rjd.2	Q8NGG3	OTTHUMG00000166852	ENST00000303059.3:c.978A>C	11.37:g.56020653A>C	ENSP00000305403:p.Glu326Asp		Q6IFC7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.E326D	ENST00000303059.3	37	c.978	CCDS31524.1	11	.	.	.	.	.	.	.	.	.	.	A	0.008	-1.863584	0.00552	.	.	ENSG00000172489	ENST00000303059	T	0.37411	1.2	4.32	-1.11	0.09840	.	0.000000	0.49305	N	0.000160	T	0.09642	0.0237	N	0.03304	-0.355	0.22280	N	0.999237	B	0.02656	0.0	B	0.04013	0.001	T	0.19031	-1.0318	10	0.07482	T	0.82	.	1.359	0.02188	0.2179:0.1608:0.3955:0.2259	.	326	Q8NGG3	OR5T3_HUMAN	D	326	ENSP00000305403:E326D	ENSP00000305403:E326D	E	+	3	2	OR5T3	55777229	0.002000	0.14202	0.911000	0.35937	0.014000	0.08584	-1.025000	0.03600	-0.001000	0.14495	-1.089000	0.02181	GAA	OR5T3	-	prints_GPCR_Rhodpsn	ENSG00000172489		0.323	OR5T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5T3	HGNC	protein_coding	OTTHUMT00000391599.1	-	0.00	21	0	A	NM_001004747		56020653	+1	tier1	-	no_errors	ENST00000303059	ensembl	human	known	74_37	missense	42.11	22	16	SNP	0.884	C
OR8J1	219477	genome.wustl.edu	37	11	56128223	56128223	+	Silent	SNP	T	T	G			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr11:56128223T>G	ENST00000303039.3	+	1	533	c.501T>G	c.(499-501)tcT>tcG	p.S167S		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	167						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					TCTCTGTGTCTTATTGCTCTT	0.398																																																	0													118.0	107.0	111.0					11																	56128223		2201	4296	6497	SO:0001819	synonymous_variant	0			AB065748	CCDS31529.1	11q11	2012-08-09			ENSG00000172487	ENSG00000172487		"""GPCR / Class A : Olfactory receptors"""	14855	protein-coding gene	gene with protein product							Standard	NM_001005205		Approved		uc010rjh.2	Q8NGP2	OTTHUMG00000166859	ENST00000303039.3:c.501T>G	11.37:g.56128223T>G			B2RNQ6|B9EH63|Q6IFC2|Q96RC3	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S167	ENST00000303039.3	37	c.501	CCDS31529.1	11																																																																																			OR8J1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000172487		0.398	OR8J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8J1	HGNC	protein_coding	OTTHUMT00000391606.2	-	0.00	24	0	T	NM_001005205		56128223	+1	tier1	-	no_errors	ENST00000303039	ensembl	human	known	74_37	silent	34.15	27	14	SNP	0.000	G
P4HB	5034	genome.wustl.edu	37	17	79805186	79805186	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr17:79805186G>T	ENST00000331483.4	-	5	884	c.662C>A	c.(661-663)aCc>aAc	p.T221N	P4HB_ENST00000472244.1_5'UTR|P4HB_ENST00000576390.1_Intron|P4HB_ENST00000439918.2_Missense_Mutation_p.T177N	NM_000918.3	NP_000909.2	P07237	PDIA1_HUMAN	prolyl 4-hydroxylase, beta polypeptide	221					cell redox homeostasis (GO:0045454)|cellular response to hypoxia (GO:0071456)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)|protein folding (GO:0006457)|regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902175)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|procollagen-proline 4-dioxygenase complex (GO:0016222)	poly(A) RNA binding (GO:0044822)|procollagen-proline 4-dioxygenase activity (GO:0004656)|protein disulfide isomerase activity (GO:0003756)			NS(1)|breast(1)|large_intestine(2)|lung(17)|urinary_tract(1)	22	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)			GTTCTCCTTGGTGACCTCCCC	0.602																																					Colon(49;444 983 1296 7887 42561)												0													150.0	149.0	149.0					17																	79805186		2203	4300	6503	SO:0001583	missense	0			J02783	CCDS11787.1	17q25	2011-10-19	2008-12-09		ENSG00000185624	ENSG00000185624	1.14.11.2, 5.3.4.1	"""Protein disulfide isomerases"""	8548	protein-coding gene	gene with protein product	"""protein disulfide isomerase-associated 1"", ""protein disulfide isomerase family A, member 1"", ""collagen prolyl 4-hydroxylase beta"""	176790	"""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide (protein disulfide isomerase; thyroid hormone binding protein p55)"", ""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide (protein disulfide isomerase-associated 1)"", ""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide"""	PO4DB, ERBA2L		8111381	Standard	NM_000918		Approved	PDIA1, PROHB, DSI, GIT, PDI, PO4HB, P4Hbeta	uc002kbn.1	P07237	OTTHUMG00000150269	ENST00000331483.4:c.662C>A	17.37:g.79805186G>T	ENSP00000327801:p.Thr221Asn		B2RDQ2|P30037|P32079|Q15205|Q6LDE5	Missense_Mutation	SNP	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,tigrfam_Prot_disulphide_isomerase,tigrfam_Disulphide_isomerase	p.T221N	ENST00000331483.4	37	c.662	CCDS11787.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.28|15.28	2.788183|2.788183	0.49997|0.49997	.|.	.|.	ENSG00000185624|ENSG00000185624	ENST00000415593;ENST00000439918|ENST00000331483;ENST00000537205;ENST00000436463	.|T	.|0.30448	.|1.53	5.77|5.77	4.79|4.79	0.61399|0.61399	.|Thioredoxin-like fold (2);	.|0.142710	.|0.64402	.|D	.|0.000006	T|T	0.34019|0.34019	0.0883|0.0883	M|M	0.67625|0.67625	2.065|2.065	0.58432|0.58432	D|D	0.999999|0.999999	.|B	.|0.10296	.|0.003	.|B	.|0.17979	.|0.02	T|T	0.11842|0.11842	-1.0571|-1.0571	5|10	.|0.45353	.|T	.|0.12	.|.	13.1701|13.1701	0.59593|0.59593	0.0:0.1223:0.7504:0.1273|0.0:0.1223:0.7504:0.1273	.|.	.|221	.|P07237	.|PDIA1_HUMAN	Q|N	6;7|221;164;205	.|ENSP00000327801:T221N	.|ENSP00000327801:T221N	H|T	-|-	3|2	2|0	P4HB|P4HB	77398475|77398475	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	4.417000|4.417000	0.59822|0.59822	1.433000|1.433000	0.47394|0.47394	0.650000|0.650000	0.86243|0.86243	CAC|ACC	P4HB	-	superfamily_Thioredoxin-like_fold,tigrfam_Prot_disulphide_isomerase	ENSG00000185624		0.602	P4HB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	P4HB	HGNC	protein_coding	OTTHUMT00000317250.3		0.00	80	0	G	NM_000918		79805186	-1			no_errors	ENST00000331483	ensembl	human	known	74_37	missense	5.33	71	4	SNP	1.000	T
PAPPA2	60676	genome.wustl.edu	37	1	176564726	176564726	+	Silent	SNP	C	C	G			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr1:176564726C>G	ENST00000367662.3	+	3	3150	c.1986C>G	c.(1984-1986)ccC>ccG	p.P662P	PAPPA2_ENST00000367661.3_Silent_p.P662P	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	662	Metalloprotease.				bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CTGACTCACCCAAGAGGTAAG	0.498																																																	0													40.0	44.0	43.0					1																	176564726		2135	4241	6376	SO:0001819	synonymous_variant	0			BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.1986C>G	1.37:g.176564726C>G			A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Silent	SNP	pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt	p.P662	ENST00000367662.3	37	c.1986	CCDS41438.1	1																																																																																			PAPPA2	-	NULL	ENSG00000116183		0.498	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPPA2	HGNC	protein_coding	OTTHUMT00000084763.1	-	0.00	45	0	C			176564726	+1	tier1	-	no_errors	ENST00000367662	ensembl	human	known	74_37	silent	44.68	26	21	SNP	0.972	G
PDCD11	22984	genome.wustl.edu	37	10	105169561	105169561	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr10:105169561G>T	ENST00000369797.3	+	8	1070	c.976G>T	c.(976-978)Gca>Tca	p.A326S		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	326	S1 motif 3. {ECO:0000255|PROSITE- ProRule:PRU00180}.				mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		CTCAAATCAGGCAGTAAGAAA	0.453																																																	0													98.0	91.0	93.0					10																	105169561		2203	4300	6503	SO:0001583	missense	0			D80007	CCDS31276.1	10q24.32	2010-07-06			ENSG00000148843	ENSG00000148843			13408	protein-coding gene	gene with protein product		612333				10229231	Standard	XM_005269647		Approved	KIAA0185, ALG-4, RRP5	uc001kwy.1	Q14690	OTTHUMG00000018988	ENST00000369797.3:c.976G>T	10.37:g.105169561G>T	ENSP00000358812:p.Ala326Ser		Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Missense_Mutation	SNP	pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_Suf,superfamily_NA-bd_OB-fold,smart_RNA-binding_domain_S1,smart_HAT,pfscan_TPR-contain_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom,prints_Ribosomal_S1	p.A326S	ENST00000369797.3	37	c.976	CCDS31276.1	10	.	.	.	.	.	.	.	.	.	.	G	7.767	0.706531	0.15239	.	.	ENSG00000148843	ENST00000369797;ENST00000543503	T	0.16743	2.32	5.32	-7.04	0.01578	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);RNA-binding domain, S1 (1);Ribosomal protein S1, RNA-binding domain (1);	0.988984	0.08259	N	0.973394	T	0.08179	0.0204	N	0.22421	0.69	0.09310	N	1	B	0.17038	0.02	B	0.15484	0.013	T	0.44003	-0.9356	10	0.10111	T	0.7	1.251	8.9868	0.35999	0.4936:0.2678:0.2386:0.0	.	326	Q14690	RRP5_HUMAN	S	326	ENSP00000358812:A326S	ENSP00000358812:A326S	A	+	1	0	PDCD11	105159551	0.000000	0.05858	0.048000	0.18961	0.800000	0.45204	-0.654000	0.05354	-1.208000	0.02634	0.561000	0.74099	GCA	PDCD11	-	superfamily_NA-bd_OB-fold,smart_RNA-binding_domain_S1,pfscan_Rbsml_prot_S1_RNA-bd_dom	ENSG00000148843		0.453	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDCD11	HGNC	protein_coding	OTTHUMT00000050151.1	-	0.00	30	0	G			105169561	+1	tier1	-	no_errors	ENST00000369797	ensembl	human	known	74_37	missense	6.67	56	4	SNP	0.001	T
PDE1A	5136	genome.wustl.edu	37	2	183051292	183051292	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr2:183051292G>T	ENST00000410103.1	-	13	1362	c.1279C>A	c.(1279-1281)Cca>Aca	p.P427T	PDE1A_ENST00000409365.1_Missense_Mutation_p.P411T|PDE1A_ENST00000456212.1_Missense_Mutation_p.P427T|PDE1A_ENST00000346717.4_Missense_Mutation_p.P393T|PDE1A_ENST00000435564.1_Missense_Mutation_p.P427T|PDE1A_ENST00000536095.1_Missense_Mutation_p.P323T|PDE1A_ENST00000351439.5_Missense_Mutation_p.P411T|PDE1A_ENST00000358139.2_Missense_Mutation_p.P427T|PDE1A_ENST00000331935.6_Missense_Mutation_p.P427T	NM_001003683.2	NP_001003683.1	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	427	Catalytic. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of smooth muscle cell apoptotic process (GO:0034391)|regulation of smooth muscle cell proliferation (GO:0048660)|signal transduction (GO:0007165)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)		Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	GAAAATGTTGGCTCTACTATG	0.358																																																	0													57.0	59.0	58.0					2																	183051292		2203	4300	6503	SO:0001583	missense	0				CCDS2285.1, CCDS33344.1, CCDS58741.1, CCDS74612.1	2q32.1	2008-03-18			ENSG00000115252	ENSG00000115252	3.1.4.17	"""Phosphodiesterases"""	8774	protein-coding gene	gene with protein product		171890				8557689, 11342109	Standard	NM_005019		Approved		uc010zfq.2	P54750	OTTHUMG00000132596	ENST00000410103.1:c.1279C>A	2.37:g.183051292G>T	ENSP00000387037:p.Pro427Thr		D3DPG5|Q86VZ0|Q9C0K8|Q9C0K9|Q9C0L0|Q9C0L1|Q9C0L2|Q9C0L3|Q9C0L4|Q9UFX3	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,pfam_PDEase_N,superfamily_GRIP,smart_HD/PDEase_dom,prints_PDEase	p.P427T	ENST00000410103.1	37	c.1279	CCDS33344.1	2	.	.	.	.	.	.	.	.	.	.	G	24.9	4.580825	0.86748	.	.	ENSG00000115252	ENST00000435564;ENST00000346717;ENST00000536095;ENST00000409365;ENST00000331935;ENST00000351439;ENST00000410103;ENST00000358139;ENST00000456212	D;D;D;D;D;D;D;D;D	0.83075	-1.68;-1.68;-1.68;-1.68;-1.68;-1.68;-1.68;-1.68;-1.68	5.57	5.57	0.84162	5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	D	0.95645	0.8584	H	0.99415	4.555	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;1.0;0.999;1.0;0.998	D	0.97404	0.9998	10	0.87932	D	0	.	18.8971	0.92427	0.0:0.0:1.0:0.0	.	323;393;427;411;427	B7Z3A7;P54750-3;P54750;P54750-2;P54750-4	.;.;PDE1A_HUMAN;.;.	T	427;393;323;411;427;411;427;427;427	ENSP00000410309:P427T;ENSP00000329112:P393T;ENSP00000439938:P323T;ENSP00000386767:P411T;ENSP00000331574:P427T;ENSP00000309269:P411T;ENSP00000387037:P427T;ENSP00000350858:P427T;ENSP00000408874:P427T	ENSP00000331574:P427T	P	-	1	0	PDE1A	182759537	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.030000	0.93725	2.785000	0.95823	0.655000	0.94253	CCA	PDE1A	-	pfam_PDEase_catalytic_dom	ENSG00000115252		0.358	PDE1A-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	PDE1A	HGNC	protein_coding	OTTHUMT00000334356.1		0.00	11	0	G			183051292	-1			no_errors	ENST00000456212	ensembl	human	known	74_37	missense	5.71	33	2	SNP	1.000	T
PDE2A	5138	genome.wustl.edu	37	11	72290624	72290624	+	Missense_Mutation	SNP	A	A	C			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr11:72290624A>C	ENST00000334456.5	-	26	2455	c.2210T>G	c.(2209-2211)aTc>aGc	p.I737S	PDE2A_ENST00000544570.1_Missense_Mutation_p.I730S|PDE2A_ENST00000418754.2_Missense_Mutation_p.I622S|PDE2A_ENST00000444035.2_Missense_Mutation_p.I728S|PDE2A_ENST00000376450.3_Missense_Mutation_p.I481S|PDE2A_ENST00000540345.1_Missense_Mutation_p.I728S	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	737	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to drug (GO:0035690)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to mechanical stimulus (GO:0071260)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP catabolic process (GO:0046069)|cGMP-mediated signaling (GO:0019934)|establishment of endothelial barrier (GO:0061028)|metabolic process (GO:0008152)|monocyte differentiation (GO:0030224)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vascular permeability (GO:0043116)|positive regulation of inflammatory response (GO:0050729)|positive regulation of vascular permeability (GO:0043117)|protein targeting to mitochondrion (GO:0006626)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel activity (GO:0005262)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|drug binding (GO:0008144)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Caffeine(DB00201)|Tofisopam(DB08811)	GGTGTTGAGGATGGCGATGGC	0.617																																																	0													51.0	54.0	53.0					11																	72290624		2200	4293	6493	SO:0001583	missense	0			U67733	CCDS8216.1, CCDS44670.1, CCDS53678.1, CCDS73345.1	11q13.1-q14.1	2008-05-14			ENSG00000186642	ENSG00000186642	3.1.4.17	"""Phosphodiesterases"""	8777	protein-coding gene	gene with protein product		602658				9210593	Standard	NM_002599		Approved		uc010rrc.2	O00408	OTTHUMG00000102045	ENST00000334456.5:c.2210T>G	11.37:g.72290624A>C	ENSP00000334910:p.Ile737Ser		B2R646|B3KRV5|E9PGI1|F6W5Z0|Q5J791|Q5J792|Q5J793|Q6ZMR1	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase	p.I737S	ENST00000334456.5	37	c.2210	CCDS8216.1	11	.	.	.	.	.	.	.	.	.	.	A	23.4	4.416613	0.83449	.	.	ENSG00000186642	ENST00000334456;ENST00000376450;ENST00000444035;ENST00000429363;ENST00000544570;ENST00000418754;ENST00000540345;ENST00000420501;ENST00000441209;ENST00000542223	D;D;D;D;D;D;D;D;D	0.82893	-1.66;-1.66;-1.66;-1.66;-1.66;-1.66;-1.66;-1.66;-1.66	4.93	4.93	0.64822	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	D	0.93003	0.7773	H	0.94385	3.53	0.58432	D	0.999999	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;1.0;1.0;1.0;1.0;1.0	D	0.94462	0.7677	10	0.87932	D	0	.	12.5264	0.56089	1.0:0.0:0.0:0.0	.	622;737;728;730;737;481	E9PEF1;O00408;E9PGI1;F6W5Z0;B2R646;Q6ZMR1	.;PDE2A_HUMAN;.;.;.;.	S	737;481;728;806;730;622;728;116;278;168	ENSP00000334910:I737S;ENSP00000365633:I481S;ENSP00000411657:I728S;ENSP00000442256:I730S;ENSP00000410310:I622S;ENSP00000446399:I728S;ENSP00000388997:I116S;ENSP00000392457:I278S;ENSP00000440834:I168S	ENSP00000334910:I737S	I	-	2	0	PDE2A	71968272	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.035000	0.93752	1.852000	0.53769	0.402000	0.26972	ATC	PDE2A	-	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase	ENSG00000186642		0.617	PDE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE2A	HGNC	protein_coding	OTTHUMT00000219839.2	-	0.00	112	0	A	NM_002599		72290624	-1	tier1	-	no_errors	ENST00000334456	ensembl	human	known	74_37	missense	20.00	72	18	SNP	1.000	C
PDHA2	5161	genome.wustl.edu	37	4	96761634	96761634	+	Silent	SNP	C	C	T	rs375563184		TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr4:96761634C>T	ENST00000295266.4	+	1	396	c.333C>T	c.(331-333)caC>caT	p.H111H		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	111					glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)		CCTCGGATCACGTCATTACAT	0.522																																																	0								C		0,4406		0,0,2203	123.0	108.0	113.0		333	-7.2	0.0	4		113	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PDHA2	NM_005390.4		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		111/389	96761634	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS3644.1	4q22-q23	2009-11-09			ENSG00000163114	ENSG00000163114	1.2.4.1		8807	protein-coding gene	gene with protein product		179061		PDHAL			Standard	NM_005390		Approved		uc003htr.4	P29803	OTTHUMG00000130990	ENST00000295266.4:c.333C>T	4.37:g.96761634C>T			B2R9Q3|Q0VDI5|Q4VC02|Q6NXQ1	Silent	SNP	pfam_DH_E1,tigrfam_Pyrv_DH_E1_asu_subgrp-y	p.H111	ENST00000295266.4	37	c.333	CCDS3644.1	4																																																																																			PDHA2	-	pfam_DH_E1,tigrfam_Pyrv_DH_E1_asu_subgrp-y	ENSG00000163114		0.522	PDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDHA2	HGNC	protein_coding	OTTHUMT00000253608.1	-	0.00	55	0	C			96761634	+1	tier1	-	no_errors	ENST00000295266	ensembl	human	known	74_37	silent	10.64	42	5	SNP	0.258	T
PGBD4	161779	genome.wustl.edu	37	15	34396159	34396159	+	Missense_Mutation	SNP	C	C	A			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr15:34396159C>A	ENST00000397766.2	+	1	1886	c.1427C>A	c.(1426-1428)cCt>cAt	p.P476H	EMC7_ENST00000532113.1_5'Flank|EMC7_ENST00000256545.4_5'Flank	NM_152595.4	NP_689808.2	Q96DM1	PGBD4_HUMAN	piggyBac transposable element derived 4	476								p.P476H(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)|prostate(1)	16		all_lung(180;1.76e-08)		all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242)		AAGGATAATCCTGAGCACACG	0.433																																																	1	Substitution - Missense(1)	lung(1)											74.0	67.0	69.0					15																	34396159		2201	4298	6499	SO:0001583	missense	0			AK057200	CCDS10033.1	15q13.1	2002-10-25			ENSG00000182405	ENSG00000182405			19401	protein-coding gene	gene with protein product							Standard	NM_152595		Approved	FLJ32638, FLJ37497	uc001zho.3	Q96DM1	OTTHUMG00000129370	ENST00000397766.2:c.1427C>A	15.37:g.34396159C>A	ENSP00000380872:p.Pro476His		A1L487|A8K0C6|Q8N9E8	Missense_Mutation	SNP	NULL	p.P476H	ENST00000397766.2	37	c.1427	CCDS10033.1	15	.	.	.	.	.	.	.	.	.	.	c	5.925	0.354664	0.11239	.	.	ENSG00000182405	ENST00000397766	T	0.20881	2.04	1.02	1.02	0.19986	.	68.102800	0.01971	U	0.044097	T	0.22898	0.0553	N	0.08118	0	0.09310	N	1	D	0.61697	0.99	P	0.58660	0.843	T	0.38090	-0.9677	10	0.46703	T	0.11	.	7.8782	0.29605	0.0:1.0:0.0:0.0	.	476	Q96DM1	PGBD4_HUMAN	H	476	ENSP00000380872:P476H	ENSP00000380872:P476H	P	+	2	0	PGBD4	32183451	0.452000	0.25713	0.046000	0.18839	0.182000	0.23217	0.065000	0.14466	0.859000	0.35456	0.306000	0.20318	CCT	PGBD4	-	NULL	ENSG00000182405		0.433	PGBD4-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PGBD4	HGNC	protein_coding	OTTHUMT00000251522.1		0.00	12	0	C			34396159	+1			no_errors	ENST00000397766	ensembl	human	known	74_37	missense	6.25	30	2	SNP	0.083	A
PHC2	1912	genome.wustl.edu	37	1	33841079	33841079	+	Missense_Mutation	SNP	C	C	T			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr1:33841079C>T	ENST00000257118.5	-	1	115	c.62G>A	c.(61-63)aGc>aAc	p.S21N	PHC2_ENST00000419414.2_Missense_Mutation_p.S21N|PHC2_ENST00000431992.1_Missense_Mutation_p.S21N|PHC2_ENST00000373416.1_5'UTR	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN	polyhomeotic homolog 2 (Drosophila)	21	Ser-rich.				multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				actggccccgctggtactgct	0.622																																																	0													51.0	46.0	48.0					1																	33841079		2203	4300	6503	SO:0001583	missense	0			AJ419231	CCDS378.1, CCDS379.1	1p34.3	2013-01-10	2006-09-12	2002-11-15	ENSG00000134686	ENSG00000134686		"""Sterile alpha motif (SAM) domain containing"""	3183	protein-coding gene	gene with protein product		602979	"""early development regulator 2 (homolog of polyhomeotic 2)"", ""polyhomeotic-like 2 (Drosophila)"""	EDR2		9121482, 12384788	Standard	NM_198040		Approved	HPH2	uc001bxg.1	Q8IXK0	OTTHUMG00000004133	ENST00000257118.5:c.62G>A	1.37:g.33841079C>T	ENSP00000257118:p.Ser21Asn		A1L4Q1|A8KA40|D3DPR2|Q2TAL3|Q5T0C1|Q6NUJ6|Q6ZQR1|Q8N306|Q8TAG8|Q96BL4|Q9Y4Y7	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM,pfscan_Znf_FCS	p.S21N	ENST00000257118.5	37	c.62	CCDS378.1	1	.	.	.	.	.	.	.	.	.	.	C	15.92	2.975388	0.53720	.	.	ENSG00000134686	ENST00000431992;ENST00000257118;ENST00000419414	T;T;T	0.34667	1.72;1.35;1.77	5.39	4.47	0.54385	.	0.429713	0.23123	N	0.051678	T	0.34164	0.0888	L	0.56769	1.78	0.80722	D	1	B;B;B	0.26635	0.155;0.155;0.155	B;B;B	0.20767	0.031;0.031;0.031	T	0.10474	-1.0628	10	0.38643	T	0.18	-5.6501	12.2573	0.54631	0.0:0.8295:0.1705:0.0	.	21;21;21	A8KA40;B7ZLY0;Q8IXK0	.;.;PHC2_HUMAN	N	21	ENSP00000389436:S21N;ENSP00000257118:S21N;ENSP00000391440:S21N	ENSP00000257118:S21N	S	-	2	0	PHC2	33613666	0.294000	0.24380	0.746000	0.31095	0.970000	0.65996	0.604000	0.24164	1.258000	0.44101	0.462000	0.41574	AGC	PHC2	-	NULL	ENSG00000134686		0.622	PHC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PHC2	HGNC	protein_coding	OTTHUMT00000011895.1	-	0.00	32	0	C	NM_198040		33841079	-1	tier1	-	no_errors	ENST00000419414	ensembl	human	known	74_37	missense	34.09	29	15	SNP	0.982	T
PHRF1	57661	genome.wustl.edu	37	11	601669	601669	+	Nonsense_Mutation	SNP	C	C	T			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr11:601669C>T	ENST00000264555.5	+	10	1248	c.1120C>T	c.(1120-1122)Cga>Tga	p.R374*	PHRF1_ENST00000413872.2_Nonsense_Mutation_p.R373*|PHRF1_ENST00000533464.1_Nonsense_Mutation_p.R370*|PHRF1_ENST00000416188.2_Nonsense_Mutation_p.R374*	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	374	Arg-rich.				mRNA processing (GO:0006397)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)	RNA polymerase binding (GO:0070063)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						ACGCCAACATCGAGTGAAGAA	0.542																																																	0													76.0	88.0	85.0					11																	601669		2017	4169	6186	SO:0001587	stop_gained	0			BC004950	CCDS44507.1, CCDS65987.1, CCDS65988.1, CCDS65989.1	11p15.5	2014-06-13			ENSG00000070047	ENSG00000070047		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	24351	protein-coding gene	gene with protein product	"""CTD binding SR like protein rA9"", ""protein phosphatase 1, regulatory subunit 125"""	611780		RNF221			Standard	XM_005253027		Approved	KIAA1542, PPP1R125	uc010qwc.2	Q9P1Y6	OTTHUMG00000165141	ENST00000264555.5:c.1120C>T	11.37:g.601669C>T	ENSP00000264555:p.Arg374*		A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2	Nonsense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_Znf_C3HC4_RING-type,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.R374*	ENST00000264555.5	37	c.1120		11	.	.	.	.	.	.	.	.	.	.	C	37	6.494769	0.97612	.	.	ENSG00000070047	ENST00000264555;ENST00000413872;ENST00000416188;ENST00000533464	.	.	.	4.7	4.7	0.59300	.	0.000000	0.38436	N	0.001696	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.7059	8.7333	0.34512	0.0:0.8984:0.0:0.1016	.	.	.	.	X	374;373;374;370	.	ENSP00000264555:R374X	R	+	1	2	PHRF1	591669	0.086000	0.21541	0.029000	0.17559	0.007000	0.05969	1.417000	0.34770	2.435000	0.82474	0.563000	0.77884	CGA	PHRF1	-	NULL	ENSG00000070047		0.542	PHRF1-001	KNOWN	basic|appris_candidate_longest	protein_coding	PHRF1	HGNC	protein_coding	OTTHUMT00000382133.1	-	0.00	56	0	C	NM_020901		601669	+1	tier1	-	no_errors	ENST00000264555	ensembl	human	known	74_37	nonsense	21.57	80	22	SNP	0.013	T
PKHD1	5314	genome.wustl.edu	37	6	51613257	51613257	+	Missense_Mutation	SNP	A	A	C			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr6:51613257A>C	ENST00000371117.3	-	58	9432	c.9157T>G	c.(9157-9159)Tta>Gta	p.L3053V	PKHD1_ENST00000340994.4_Missense_Mutation_p.L3053V	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3053					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TGACCCTCTAAATCTATGCCA	0.502																																																	0													91.0	83.0	85.0					6																	51613257		2203	4300	6503	SO:0001583	missense	0			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.9157T>G	6.37:g.51613257A>C	ENSP00000360158:p.Leu3053Val		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	pfam_IPT,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT,smart_PbH1	p.L3053V	ENST00000371117.3	37	c.9157	CCDS4935.1	6	.	.	.	.	.	.	.	.	.	.	A	10.79	1.450890	0.26074	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	T;T	0.80994	-1.44;-1.24	5.86	-1.39	0.08997	Pectin lyase fold/virulence factor (1);Pectin lyase fold (1);	0.215868	0.33057	N	0.005334	T	0.43590	0.1254	L	0.28115	0.83	0.24253	N	0.995316	B;B;B	0.30482	0.281;0.011;0.145	B;B;B	0.36092	0.217;0.033;0.141	T	0.44772	-0.9306	10	0.25106	T	0.35	.	2.7845	0.05370	0.4917:0.1152:0.2862:0.107	.	3053;3053;3053	A8MVM9;P08F94-2;P08F94	.;.;PKHD1_HUMAN	V	3053	ENSP00000360158:L3053V;ENSP00000341097:L3053V	ENSP00000341097:L3053V	L	-	1	2	PKHD1	51721216	0.974000	0.33945	0.994000	0.49952	0.792000	0.44763	0.104000	0.15313	-0.109000	0.12044	0.533000	0.62120	TTA	PKHD1	-	superfamily_Pectin_lyase_fold/virulence,smart_PbH1	ENSG00000170927		0.502	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKHD1	HGNC	protein_coding	OTTHUMT00000040893.1	-	0.00	33	0	A	NM_138694		51613257	-1	tier1	-	no_errors	ENST00000371117	ensembl	human	known	74_37	missense	37.04	34	20	SNP	0.968	C
PLD5	200150	genome.wustl.edu	37	1	242253189	242253189	+	Silent	SNP	G	G	A	rs369388309		TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr1:242253189G>A	ENST00000536534.2	-	10	1819	c.1578C>T	c.(1576-1578)gaC>gaT	p.D526D	PLD5_ENST00000442594.2_Silent_p.D434D|PLD5_ENST00000427495.1_Silent_p.D464D			Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	526						integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			CGCCTGTGTCGTCTGTGGCAG	0.453																																																	0								G	,,	2,4404	4.2+/-10.8	0,2,2201	236.0	229.0	231.0		1392,954,1578	2.5	0.0	1		231	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	PLD5	NM_001195811.1,NM_001195812.1,NM_152666.2	,,	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	,,	464/475,318/329,526/537	242253189	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0			AK098092	CCDS1621.1, CCDS1621.2, CCDS55692.1	1q43	2008-02-05			ENSG00000180287	ENSG00000180287			26879	protein-coding gene	gene with protein product							Standard	NM_001195811		Approved	FLJ40773	uc001hzn.2	Q8N7P1	OTTHUMG00000039867	ENST00000536534.2:c.1578C>T	1.37:g.242253189G>A			A1KXV0|B7Z324|Q494U9|Q8NB22	Silent	SNP	smart_PLipase_D/transphosphatidylase	p.D526	ENST00000536534.2	37	c.1578	CCDS1621.2	1																																																																																			PLD5	-	NULL	ENSG00000180287		0.453	PLD5-006	KNOWN	basic|appris_principal|CCDS	protein_coding	PLD5	HGNC	protein_coding	OTTHUMT00000397213.2	-	0.00	85	0	G	NM_152666		242253189	-1	tier1	-	no_errors	ENST00000536534	ensembl	human	known	74_37	silent	47.78	47	43	SNP	0.001	A
PLEKHG5	57449	genome.wustl.edu	37	1	6530819	6530819	+	Silent	SNP	G	G	T			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr1:6530819G>T	ENST00000400915.3	-	15	1752	c.1686C>A	c.(1684-1686)cgC>cgA	p.R562R	PLEKHG5_ENST00000377732.1_Silent_p.R543R|PLEKHG5_ENST00000377740.3_Silent_p.R583R|PLEKHG5_ENST00000400913.1_Silent_p.R506R|PLEKHG5_ENST00000377748.1_Silent_p.R583R|PLEKHG5_ENST00000340850.5_Silent_p.R506R|PLEKHG5_ENST00000535355.1_Silent_p.R575R|PLEKHG5_ENST00000537245.1_Silent_p.R585R|PLEKHG5_ENST00000377737.2_Silent_p.R506R|PLEKHG5_ENST00000377725.1_Silent_p.R506R|PLEKHG5_ENST00000377728.3_Silent_p.R506R|PLEKHG5_ENST00000544978.1_Silent_p.R506R	NM_001042663.1	NP_001036128.1	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	562	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|endothelial cell chemotaxis (GO:0035767)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		CCTCCTTGGCGCGCGGCTCCT	0.667																																																	0													15.0	14.0	15.0					1																	6530819		2187	4264	6451	SO:0001819	synonymous_variant	0			AK024676	CCDS79.1, CCDS41240.1, CCDS41241.1, CCDS57967.1, CCDS57968.1, CCDS57969.1	1p36.31	2014-09-17		2005-08-09	ENSG00000171680	ENSG00000171680		"""Pleckstrin homology (PH) domain containing"""	29105	protein-coding gene	gene with protein product	"""synectin-binding guanine exchange factor"""	611101				17564964	Standard	NM_001042663		Approved	KIAA0720, Syx, GEF720, Tech	uc010nzr.1	O94827	OTTHUMG00000000905	ENST00000400915.3:c.1686C>A	1.37:g.6530819G>T			B3KU07|B7Z2M3|B7Z5X2|F5GZ21|F5H1I0|Q5SY17|Q5T8W5|Q5T8W9|Q6ZNM0|Q7Z436|Q86YD8|Q96BS1	Silent	SNP	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.R585	ENST00000400915.3	37	c.1755	CCDS41241.1	1																																																																																			PLEKHG5	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	ENSG00000171680		0.667	PLEKHG5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLEKHG5	HGNC	protein_coding	OTTHUMT00000002631.1	-	0.00	27	0	G	NM_020631		6530819	-1	tier1	-	no_errors	ENST00000537245	ensembl	human	known	74_37	silent	31.58	26	12	SNP	0.015	T
PLD5	200150	genome.wustl.edu	37	1	242277295	242277295	+	Missense_Mutation	SNP	T	T	C			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr1:242277295T>C	ENST00000536534.2	-	7	1208	c.967A>G	c.(967-969)Agt>Ggt	p.S323G	PLD5_ENST00000442594.2_Missense_Mutation_p.S231G|PLD5_ENST00000427495.1_Missense_Mutation_p.S261G			Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	323						integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)	p.S231R(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			ATGTCAAAACTTCTGTTTTTA	0.408																																																	1	Substitution - Missense(1)	ovary(1)											119.0	103.0	108.0					1																	242277295		2203	4300	6503	SO:0001583	missense	0			AK098092	CCDS1621.1, CCDS1621.2, CCDS55692.1	1q43	2008-02-05			ENSG00000180287	ENSG00000180287			26879	protein-coding gene	gene with protein product							Standard	NM_001195811		Approved	FLJ40773	uc001hzn.2	Q8N7P1	OTTHUMG00000039867	ENST00000536534.2:c.967A>G	1.37:g.242277295T>C	ENSP00000440896:p.Ser323Gly		A1KXV0|B7Z324|Q494U9|Q8NB22	Missense_Mutation	SNP	smart_PLipase_D/transphosphatidylase	p.S323G	ENST00000536534.2	37	c.967	CCDS1621.2	1	.	.	.	.	.	.	.	.	.	.	T	19.00	3.740921	0.69304	.	.	ENSG00000180287	ENST00000427495;ENST00000442594;ENST00000536534	T;T;T	0.46451	0.88;0.87;0.87	5.21	5.21	0.72293	Phospholipase D/viral envelope (1);	0.086424	0.85682	D	0.000000	T	0.47619	0.1455	L	0.61218	1.895	0.39473	D	0.967766	P;P;P	0.50272	0.933;0.891;0.933	P;P;P	0.51487	0.597;0.671;0.501	T	0.53507	-0.8429	10	0.54805	T	0.06	-17.2208	6.7324	0.23390	0.0:0.1383:0.0:0.8617	.	231;323;261	Q8N7P1-2;Q8N7P1;Q8N7P1-4	.;PLD5_HUMAN;.	G	261;231;323	ENSP00000401285:S261G;ENSP00000414188:S231G;ENSP00000440896:S323G	ENSP00000401285:S261G	S	-	1	0	PLD5	240343918	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.598000	0.61069	1.967000	0.57214	0.523000	0.50628	AGT	PLD5	-	NULL	ENSG00000180287		0.408	PLD5-006	KNOWN	basic|appris_principal|CCDS	protein_coding	PLD5	HGNC	protein_coding	OTTHUMT00000397213.2	-	0.00	37	0	T	NM_152666		242277295	-1	tier1	-	no_errors	ENST00000536534	ensembl	human	known	74_37	missense	41.51	31	22	SNP	1.000	C
PLEKHM1P	440456	genome.wustl.edu	37	17	62783373	62783373	+	RNA	SNP	A	A	G			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr17:62783373A>G	ENST00000582986.1	-	0	2199					NR_024386.1		Q69YJ1	PKHMP_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1 pseudogene						intracellular signal transduction (GO:0035556)		metal ion binding (GO:0046872)										CACCTGCCGGAGGTCAGCAAC	0.493																																																	0																																												0					17q24.1	2012-10-03			ENSG00000214176	ENSG00000214176			35411	pseudogene	pseudogene							Standard	NR_024386		Approved	LOC440456	uc002jew.4	Q69YJ1	OTTHUMG00000179296		17.37:g.62783373A>G				RNA	SNP	-	NULL	ENST00000582986.1	37	NULL		17																																																																																			PLEKHM1P	-	-	ENSG00000214176		0.493	PLEKHM1P-002	KNOWN	basic	processed_transcript	PLEKHM1P	HGNC	pseudogene	OTTHUMT00000445598.1	-	0.00	81	0	A	NR_024386		62783373	-1	tier1	-	no_errors	ENST00000578036	ensembl	human	known	74_37	rna	5.68	83	5	SNP	0.999	G
PLIN2	123	genome.wustl.edu	37	9	19121077	19121077	+	Silent	SNP	G	G	A			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr9:19121077G>A	ENST00000276914.2	-	5	575	c.396C>T	c.(394-396)agC>agT	p.S132S	PLIN2_ENST00000411567.1_Silent_p.S132S	NM_001122.3	NP_001113.2	Q99541	PLIN2_HUMAN	perilipin 2	132					cellular lipid metabolic process (GO:0044255)|lipid storage (GO:0019915)|long-chain fatty acid transport (GO:0015909)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|lipid particle (GO:0005811)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	19						CTGTGATCGTGCTGGCCACAG	0.527																																																	0													143.0	121.0	129.0					9																	19121077		2203	4300	6503	SO:0001819	synonymous_variant	0			X97324	CCDS6490.1	9p22.1	2009-08-12	2009-08-12	2009-08-12	ENSG00000147872	ENSG00000147872		"""Perilipins"""	248	protein-coding gene	gene with protein product	"""adipophilin"""	103195	"""adipose differentiation-related protein"""	ADFP		9003395, 19638644	Standard	NM_001122		Approved	ADRP	uc003zno.3	Q99541	OTTHUMG00000019624	ENST00000276914.2:c.396C>T	9.37:g.19121077G>A			Q9BSC3	Silent	SNP	pfam_Perilipin,pirsf_Perilipin	p.S132	ENST00000276914.2	37	c.396	CCDS6490.1	9																																																																																			PLIN2	-	pfam_Perilipin,pirsf_Perilipin	ENSG00000147872		0.527	PLIN2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	PLIN2	HGNC	protein_coding	OTTHUMT00000051835.1		0.00	11	0	G	NM_001122		19121077	-1			no_errors	ENST00000276914	ensembl	human	known	74_37	silent	12.90	26	4	SNP	0.994	A
PMPCA	23203	genome.wustl.edu	37	9	139310795	139310795	+	Silent	SNP	G	G	T			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr9:139310795G>T	ENST00000371717.3	+	6	594	c.585G>T	c.(583-585)ctG>ctT	p.L195L	PMPCA_ENST00000399219.3_Silent_p.L64L|PMPCA_ENST00000371720.1_3'UTR|PMPCA_ENST00000462616.1_3'UTR	NM_001282946.1|NM_015160.1	NP_001269875.1|NP_055975.1	Q10713	MPPA_HUMAN	peptidase (mitochondrial processing) alpha	195					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	14		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)		TGGAGGACCTGAACCTGCGGC	0.557																																																	0													103.0	94.0	97.0					9																	139310795		2203	4300	6503	SO:0001819	synonymous_variant	0			D21064	CCDS35180.1, CCDS65192.1	9q34.3	2008-02-05	2003-06-13	2003-06-20	ENSG00000165688	ENSG00000165688			18667	protein-coding gene	gene with protein product		613036	"""inositol polyphosphate-5-phosphatase, 72 kD"""	INPP5E		8590280, 7788527	Standard	NM_015160		Approved	KIAA0123, Alpha-MPP	uc004chl.3	Q10713	OTTHUMG00000020926	ENST00000371717.3:c.585G>T	9.37:g.139310795G>T			B4DKL3|E7ET61|Q16639|Q5SXM9|Q8N513	Silent	SNP	pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16	p.L195	ENST00000371717.3	37	c.585	CCDS35180.1	9																																																																																			PMPCA	-	pfam_Pept_M16_N,superfamily_Metalloenz_LuxS/M16	ENSG00000165688		0.557	PMPCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PMPCA	HGNC	protein_coding	OTTHUMT00000055054.1	-	0.00	37	0	G	NM_015160		139310795	+1	tier1	-	no_errors	ENST00000371717	ensembl	human	known	74_37	silent	5.19	73	4	SNP	0.927	T
PRAMEF4	400735	genome.wustl.edu	37	1	12939505	12939505	+	Missense_Mutation	SNP	A	A	C			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr1:12939505A>C	ENST00000235349.5	-	4	1367	c.1297T>G	c.(1297-1299)Ttt>Gtt	p.F433V		NM_001009611.2	NP_001009611.1	O60810	PRAM4_HUMAN	PRAME family member 4	433					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ATTTGAGCAAATCTGCTCCAG	0.512																																																	0													67.0	78.0	74.0					1																	12939505		1487	2641	4128	SO:0001583	missense	0				CCDS30592.1	1p36.21	2013-01-17			ENSG00000243073	ENSG00000243073		"""-"""	31971	protein-coding gene	gene with protein product							Standard	NM_001009611		Approved	RP5-845O24.6	uc001aun.2	O60810	OTTHUMG00000001987	ENST00000235349.5:c.1297T>G	1.37:g.12939505A>C	ENSP00000235349:p.Phe433Val		Q5LJB5	Missense_Mutation	SNP	NULL	p.F433V	ENST00000235349.5	37	c.1297	CCDS30592.1	1	.	.	.	.	.	.	.	.	.	.	A	11.49	1.655466	0.29425	.	.	ENSG00000243073	ENST00000235349	T	0.08984	3.03	1.48	-2.96	0.05547	.	1.028280	0.07737	N	0.946226	T	0.23054	0.0557	M	0.84219	2.685	0.09310	N	1	D	0.69078	0.997	D	0.70716	0.97	T	0.13072	-1.0523	10	0.51188	T	0.08	.	2.7562	0.05293	0.2871:0.0:0.4819:0.231	.	433	O60810	PRAM4_HUMAN	V	433	ENSP00000235349:F433V	ENSP00000235349:F433V	F	-	1	0	PRAMEF4	12862092	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.954000	0.03873	-1.084000	0.03092	0.329000	0.21502	TTT	PRAMEF4	-	NULL	ENSG00000243073		0.512	PRAMEF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF4	HGNC	protein_coding	OTTHUMT00000005518.1	-	0.00	191	0	A	NM_001009611		12939505	-1	tier1	-	no_errors	ENST00000235349	ensembl	human	known	74_37	missense	46.33	212	183	SNP	0.000	C
PRAMEF7	441871	genome.wustl.edu	37	1	12979871	12979871	+	Missense_Mutation	SNP	T	T	G			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr1:12979871T>G	ENST00000361079.2	+	4	1146	c.1063T>G	c.(1063-1065)Tta>Gta	p.L355V	RNU6-1072P_ENST00000384703.1_RNA			Q5VXH5	PRAM7_HUMAN	PRAME family member 7	355					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					endometrium(2)|kidney(5)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)	18	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GACCCTGGACTTAGAGGACTG	0.597																																																	0													7.0	6.0	7.0					1																	12979871		1490	3131	4621	SO:0001583	missense	0				CCDS30593.1	1p36.21	2013-01-17			ENSG00000204510	ENSG00000204510		"""-"""	28415	protein-coding gene	gene with protein product							Standard	NM_001012277		Approved			Q5VXH5	OTTHUMG00000001982	ENST00000361079.2:c.1063T>G	1.37:g.12979871T>G	ENSP00000354371:p.Leu355Val		B9EIP0	Missense_Mutation	SNP	NULL	p.L355V	ENST00000361079.2	37	c.1063	CCDS30593.1	1	.	.	.	.	.	.	.	.	.	.	.	12.01	1.810710	0.32053	.	.	ENSG00000204510	ENST00000361079;ENST00000330881	T;T	0.02177	4.41;4.41	1.68	1.68	0.24146	.	0.094615	0.42548	D	0.000686	T	0.10465	0.0256	M	0.87971	2.92	0.09310	N	1	D	0.76494	0.999	D	0.87578	0.998	T	0.03193	-1.1062	10	0.66056	D	0.02	.	4.653	0.12605	0.0:0.0:0.3363:0.6636	.	355	Q5VXH5	PRAM7_HUMAN	V	355	ENSP00000354371:L355V;ENSP00000328915:L355V	ENSP00000328915:L355V	L	+	1	2	PRAMEF7	12902458	0.000000	0.05858	0.004000	0.12327	0.076000	0.17211	-0.349000	0.07731	1.023000	0.39654	0.254000	0.18369	TTA	PRAMEF7	-	NULL	ENSG00000204510		0.597	PRAMEF7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF7	HGNC	protein_coding		-	0.00	173	0	T	NM_001012277		12979871	+1	tier1	-	no_errors	ENST00000330881	ensembl	human	known	74_37	missense	29.71	219	93	SNP	0.135	G
PRCD	768206	genome.wustl.edu	37	17	74538711	74538711	+	3'UTR	SNP	G	G	A			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr17:74538711G>A	ENST00000586148.1	+	0	272				PRCD_ENST00000592432.1_3'UTR|PRCD_ENST00000592014.1_3'UTR|CYGB_ENST00000589145.1_Intron			Q00LT1	PRCD_HUMAN	progressive rod-cone degeneration						response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)											AGCTGGCTCAGGCAGGTAGGG	0.627																																																	0													40.0	37.0	38.0					17																	74538711		692	1591	2283	SO:0001624	3_prime_UTR_variant	0			DQ390338	CCDS42382.1	17q25.1	2008-10-24			ENSG00000214140	ENSG00000214140			32528	protein-coding gene	gene with protein product		610598				16938425	Standard	NM_001077620		Approved	RP36	uc002jrw.1	Q00LT1	OTTHUMG00000132200	ENST00000586148.1:c.*55G>A	17.37:g.74538711G>A			B9EJD4	RNA	SNP	-	NULL	ENST00000586148.1	37	NULL	CCDS42382.1	17																																																																																			PRCD	-	-	ENSG00000214140		0.627	PRCD-008	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|CCDS	protein_coding	PRCD	HGNC	protein_coding	OTTHUMT00000450598.1	-	0.00	26	0	G			74538711	+1	tier1	-	no_errors	ENST00000397633	ensembl	human	known	74_37	rna	71.62	21	53	SNP	0.465	A
PRSS38	339501	genome.wustl.edu	37	1	228033841	228033841	+	Missense_Mutation	SNP	C	C	T			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr1:228033841C>T	ENST00000366757.3	+	5	937	c.913C>T	c.(913-915)Ctc>Ttc	p.L305F		NM_183062.2	NP_898885.1	A1L453	PRS38_HUMAN	protease, serine, 38	305						extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						AGCCCCTGCTCTCTCTCCAGC	0.542																																																	0													75.0	73.0	74.0					1																	228033841		2203	4300	6503	SO:0001583	missense	0				CCDS1563.1	1q42.13	2010-05-07			ENSG00000185888	ENSG00000185888		"""Serine peptidases / Serine peptidases"""	29625	protein-coding gene	gene with protein product	"""marapsin 2"""					12838346	Standard	NM_183062		Approved	MPN2	uc001hrh.3	A1L453	OTTHUMG00000037701	ENST00000366757.3:c.913C>T	1.37:g.228033841C>T	ENSP00000355719:p.Leu305Phe		Q7RTY6	Missense_Mutation	SNP	pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.L305F	ENST00000366757.3	37	c.913	CCDS1563.1	1	.	.	.	.	.	.	.	.	.	.	C	8.566	0.878925	0.17395	.	.	ENSG00000185888	ENST00000366757	D	0.89123	-2.47	4.73	-3.91	0.04168	.	0.560263	0.13512	N	0.382385	T	0.68522	0.3010	N	0.08118	0	0.09310	N	1	B	0.17038	0.02	B	0.12837	0.008	T	0.60037	-0.7341	10	0.09590	T	0.72	.	5.469	0.16660	0.0:0.217:0.2789:0.5041	.	305	A1L453	PRS38_HUMAN	F	305	ENSP00000355719:L305F	ENSP00000355719:L305F	L	+	1	0	PRSS38	226100464	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.898000	0.01602	-0.464000	0.06963	-0.244000	0.11960	CTC	PRSS38	-	NULL	ENSG00000185888		0.542	PRSS38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRSS38	HGNC	protein_coding	OTTHUMT00000091981.1	-	0.00	43	0	C	NM_183062		228033841	+1	tier1	-	no_errors	ENST00000366757	ensembl	human	known	74_37	missense	33.33	44	22	SNP	0.000	T
PSMB3	5691	genome.wustl.edu	37	17	36920394	36920394	+	Missense_Mutation	SNP	A	A	T			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr17:36920394A>T	ENST00000225426.4	+	6	683	c.592A>T	c.(592-594)Agg>Tgg	p.R198W		NM_002795.2	NP_002786.2	P49720	PSB3_HUMAN	proteasome (prosome, macropain) subunit, beta type, 3	198					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)	threonine-type endopeptidase activity (GO:0004298)			endometrium(2)|large_intestine(1)|lung(1)	4						AATCACCACCAGGACACTGAA	0.468																																																	0													77.0	62.0	67.0					17																	36920394		2203	4300	6503	SO:0001583	missense	0			BC013008	CCDS11328.1	17q12	2014-05-06			ENSG00000108294	ENSG00000277791		"""Proteasome (prosome, macropain) subunits"""	9540	protein-coding gene	gene with protein product		602176				7918633	Standard	NM_002795		Approved	HC10-II, MGC4147	uc002hqr.3	P49720	OTTHUMG00000188503	ENST00000225426.4:c.592A>T	17.37:g.36920394A>T	ENSP00000225426:p.Arg198Trp		P31147|Q0P6J7|Q96E27	Missense_Mutation	SNP	pfam_Proteasome_sua/b	p.R198W	ENST00000225426.4	37	c.592	CCDS11328.1	17	.	.	.	.	.	.	.	.	.	.	A	23.2	4.385020	0.82792	.	.	ENSG00000108294	ENST00000225426	T	0.44482	0.92	5.34	3.06	0.35304	.	0.000000	0.85682	D	0.000000	T	0.66268	0.2772	M	0.88570	2.965	0.58432	D	0.999993	D	0.76494	0.999	D	0.77557	0.99	T	0.70718	-0.4795	10	0.87932	D	0	.	10.3393	0.43868	0.45:0.55:0.0:0.0	.	198	P49720	PSB3_HUMAN	W	198	ENSP00000225426:R198W	ENSP00000225426:R198W	R	+	1	2	PSMB3	34173920	0.994000	0.37717	1.000000	0.80357	0.997000	0.91878	1.284000	0.33249	0.870000	0.35726	0.414000	0.27820	AGG	PSMB3	-	NULL	ENSG00000108294		0.468	PSMB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMB3	HGNC	protein_coding	OTTHUMT00000256810.2	-	0.00	71	0	A	NM_002795		36920394	+1	tier1	-	no_errors	ENST00000225426	ensembl	human	known	74_37	missense	47.83	60	55	SNP	1.000	T
PSMB5	5693	genome.wustl.edu	37	14	23503912	23503912	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr14:23503912G>T	ENST00000361611.6	-	1	442	c.179C>A	c.(178-180)aCa>aAa	p.T60K	PSMB5_ENST00000493471.2_Missense_Mutation_p.T60K|PSMB5_ENST00000425762.2_Intron|AL132780.1_ENST00000385031.1_RNA|PSMB5_ENST00000460922.2_Missense_Mutation_p.T60K	NM_002797.3	NP_002788.1	P28074	PSB5_HUMAN	proteasome (prosome, macropain) subunit, beta type, 5	60					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to oxidative stress (GO:0006979)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)	threonine-type endopeptidase activity (GO:0004298)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	7	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0121)	Bortezomib(DB00188)|Carfilzomib(DB08889)	CAGGGTGGTTGTTCCATGAAG	0.627																																																	0													44.0	40.0	41.0					14																	23503912		2203	4300	6503	SO:0001583	missense	0			D29011	CCDS9584.1, CCDS45083.1, CCDS45084.1	14q11.2	2008-08-29			ENSG00000100804	ENSG00000100804		"""Proteasome (prosome, macropain) subunits"""	9542	protein-coding gene	gene with protein product		600306				8066462, 8811196	Standard	NM_001130725		Approved	X, MB1	uc001wii.3	P28074	OTTHUMG00000028713	ENST00000361611.6:c.179C>A	14.37:g.23503912G>T	ENSP00000355325:p.Thr60Lys		B2R4N9|B4DUM9|D3DS43|E9PAV2|Q16242|Q6PEW2|Q7Z3B5|Q86T01|Q9TNN9	Missense_Mutation	SNP	pfam_Proteasome_sua/b,prints_Pept_T1A_subB	p.T60K	ENST00000361611.6	37	c.179	CCDS9584.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.1|29.1	4.974418|4.974418	0.92919|0.92919	.|.	.|.	ENSG00000100804|ENSG00000100804	ENST00000555895|ENST00000361611;ENST00000493471;ENST00000460922	.|T;T;T	.|0.72942	.|-0.7;-0.7;-0.7	5.28|5.28	5.28|5.28	0.74379|0.74379	.|.	.|0.048149	.|0.85682	.|D	.|0.000000	D|D	0.92113|0.92113	0.7500|0.7500	H|H	0.99851|0.99851	4.845|4.845	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|0.999;1.0	.|D;D	.|0.87578	.|0.977;0.998	D|D	0.95850|0.95850	0.8874|0.8874	5|10	.|0.87932	.|D	.|0	-27.2198|-27.2198	17.7057|17.7057	0.88309|0.88309	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|60;60	.|P28074-2;P28074	.|.;PSB5_HUMAN	K|K	9|60	.|ENSP00000355325:T60K;ENSP00000452424:T60K;ENSP00000451286:T60K	.|ENSP00000334973:T60K	Q|T	-|-	1|2	0|0	PSMB5|PSMB5	22573752|22573752	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	7.671000|7.671000	0.83941|0.83941	2.464000|2.464000	0.83262|0.83262	0.555000|0.555000	0.69702|0.69702	CAA|ACA	PSMB5	-	pfam_Proteasome_sua/b	ENSG00000100804		0.627	PSMB5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMB5	HGNC	protein_coding	OTTHUMT00000071695.4		0.00	62	0	G	NM_002797		23503912	-1			no_errors	ENST00000361611	ensembl	human	known	74_37	missense	7.55	49	4	SNP	1.000	T
PTH1R	5745	genome.wustl.edu	37	3	46944902	46944902	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr3:46944902G>T	ENST00000313049.5	+	14	1741	c.1538G>T	c.(1537-1539)gGa>gTa	p.G513V	PTH1R_ENST00000449590.1_Missense_Mutation_p.G513V|PTH1R_ENST00000430002.2_Missense_Mutation_p.G513V|PTH1R_ENST00000418619.1_Missense_Mutation_p.G513V			Q03431	PTH1R_HUMAN	parathyroid hormone 1 receptor	513					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|bone mineralization (GO:0030282)|bone resorption (GO:0045453)|cell maturation (GO:0048469)|chondrocyte differentiation (GO:0002062)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cell proliferation (GO:0008285)|osteoblast development (GO:0002076)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of inositol phosphate biosynthetic process (GO:0060732)|skeletal system development (GO:0001501)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	parathyroid hormone receptor activity (GO:0004991)|peptide hormone binding (GO:0017046)|protein self-association (GO:0043621)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2)	19					Preotact(DB05829)|Teriparatide(DB06285)	CCCCGTGTGGGACTCGGCCTG	0.672																																																	0													49.0	43.0	45.0					3																	46944902		2203	4300	6503	SO:0001583	missense	0				CCDS2747.1	3p22-p21.1	2012-08-10	2008-11-18	2008-11-18	ENSG00000160801	ENSG00000160801		"""GPCR / Class B : Parathyroid hormone receptors"""	9608	protein-coding gene	gene with protein product		168468	"""parathyroid hormone receptor 1"""	PTHR, PTHR1		8020952	Standard	NM_001184744		Approved		uc021wxg.1	Q03431	OTTHUMG00000133515	ENST00000313049.5:c.1538G>T	3.37:g.46944902G>T	ENSP00000321999:p.Gly513Val		Q2M1U3	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_parathyroid_rcpt	p.G513V	ENST00000313049.5	37	c.1538	CCDS2747.1	3	.	.	.	.	.	.	.	.	.	.	G	11.44	1.638696	0.29157	.	.	ENSG00000160801	ENST00000449590;ENST00000418619;ENST00000427125;ENST00000430002;ENST00000313049;ENST00000313063;ENST00000422115	T;T;T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25;-0.25;-0.25	5.1	5.1	0.69264	.	.	.	.	.	T	0.55273	0.1910	L	0.29908	0.895	0.58432	D	0.999993	B	0.27450	0.179	B	0.24269	0.052	T	0.55444	-0.8140	9	0.52906	T	0.07	.	14.37	0.66833	0.0:0.1596:0.8404:0.0	.	513	Q03431	PTH1R_HUMAN	V	513;513;513;513;513;818;102	ENSP00000402723:G513V;ENSP00000411424:G513V;ENSP00000400977:G513V;ENSP00000413774:G513V;ENSP00000321999:G513V;ENSP00000396176:G102V	ENSP00000321999:G513V	G	+	2	0	PTH1R	46919906	0.995000	0.38212	1.000000	0.80357	0.950000	0.60333	3.305000	0.51873	2.814000	0.96858	0.563000	0.77884	GGA	PTH1R	-	prints_GPCR_2_parathyroid_rcpt	ENSG00000160801		0.672	PTH1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTH1R	HGNC	protein_coding	OTTHUMT00000257481.1		0.00	53	0	G	NM_000316		46944902	+1			no_errors	ENST00000313049	ensembl	human	known	74_37	missense	5.13	74	4	SNP	1.000	T
PTP4A2	8073	genome.wustl.edu	37	1	32384717	32384717	+	5'UTR	DEL	A	A	-	rs532230753|rs370536901	byFrequency	TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr1:32384717delA	ENST00000602725.1	-	0	367				RP11-84A19.4_ENST00000602889.1_lincRNA|PTP4A2_ENST00000344035.6_5'UTR|PTP4A2_ENST00000356536.3_5'UTR|PTP4A2_ENST00000470404.1_5'UTR|PTP4A2_ENST00000526960.1_5'Flank|PTP4A2_ENST00000457805.2_5'UTR			Q12974	TP4A2_HUMAN	protein tyrosine phosphatase type IVA, member 2						peptidyl-tyrosine dephosphorylation (GO:0035335)	cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	prenylated protein tyrosine phosphatase activity (GO:0004727)			kidney(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)				GGGGAAAGTGAAAAAAAAAAA	0.368													|||unknown(HR)	282	0.0563099	0.1762	0.013	5008	,	,		21482	0.0079		0.0139	False		,,,				2504	0.0184																0													35.0	38.0	37.0					1																	32384717		2203	4300	6503	SO:0001623	5_prime_UTR_variant	0			L48723	CCDS348.1, CCDS53292.1, CCDS59193.1	1p35	2011-06-09			ENSG00000184007	ENSG00000184007		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PRLs"""	9635	protein-coding gene	gene with protein product		601584		PTP4A		8661118, 9514946	Standard	NM_080391		Approved	HU-PP-1, PTPCAAX2, OV-1, ptp-IV1a, PRL-2	uc001bty.2	Q12974	OTTHUMG00000003801	ENST00000602725.1:c.-51T>-	1.37:g.32384717delA			A8K9I8|B4DM39|D3DPP0|E9PGJ6|O00649|Q15197|Q15259|Q15260|Q15261|R4GN50	RNA	DEL	-	NULL	ENST00000602725.1	37	NULL	CCDS348.1	1																																																																																			PTP4A2	-	-	ENSG00000184007		0.368	PTP4A2-019	KNOWN	basic|appris_principal|CCDS	protein_coding	PTP4A2	HGNC	protein_coding	OTTHUMT00000468092.1		0.00	20	0	A	NM_080391		32384717	-1	tier1		no_errors	ENST00000532289	ensembl	human	known	74_37	rna	12.50	35	5	DEL	0.000	-
PTPN7	5778	genome.wustl.edu	37	1	202119449	202119449	+	Missense_Mutation	SNP	G	G	A	rs538790408		TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr1:202119449G>A	ENST00000308986.5	-	9	1109	c.979C>T	c.(979-981)Cgg>Tgg	p.R327W	PTPN7_ENST00000309017.3_Missense_Mutation_p.R432W|PTPN7_ENST00000543735.1_Missense_Mutation_p.R156W|PTPN7_ENST00000367279.4_Missense_Mutation_p.R366W|PTPN7_ENST00000544762.1_Missense_Mutation_p.R103W|PTPN7_ENST00000492977.1_5'UTR			P35236	PTN7_HUMAN	protein tyrosine phosphatase, non-receptor type 7	327	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|soft_tissue(1)|urinary_tract(1)	13						CTGTCTAGCCGCAGTTGGCAC	0.572													G|||	1	0.000199681	0.0	0.0	5008	,	,		17941	0.0		0.001	False		,,,				2504	0.0																0													78.0	60.0	66.0					1																	202119449		2203	4300	6503	SO:0001583	missense	0			BC001746	CCDS1422.1, CCDS1423.1, CCDS1423.2	1q32.1	2011-06-09			ENSG00000143851	ENSG00000143851		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9659	protein-coding gene	gene with protein product		176889				1510684	Standard	NM_002832		Approved	HEPTP, LC-PTP	uc010ppx.2	P35236	OTTHUMG00000035931	ENST00000308986.5:c.979C>T	1.37:g.202119449G>A	ENSP00000311133:p.Arg327Trp		B3KXE1|Q53XK4|Q5SXQ0|Q5SXQ1|Q9BV05	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_KIM-con,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.R432W	ENST00000308986.5	37	c.1294		1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.011395	0.75046	.	.	ENSG00000143851	ENST00000367279;ENST00000309017;ENST00000308986;ENST00000544762;ENST00000543735;ENST00000477554	D;D;D;D;D;D	0.91631	-2.88;-2.88;-2.88;-2.88;-2.88;-2.88	5.43	4.49	0.54785	Protein-tyrosine phosphatase, receptor/non-receptor type (4);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.53938	D	0.000054	D	0.97923	0.9317	H	0.99726	4.73	0.52501	D	0.999952	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.98160	1.0446	10	0.87932	D	0	.	12.7247	0.57164	0.0:0.0:0.7006:0.2994	.	401;275;279;327;366	B4DZD9;B4DVF0;Q8NFX3;P35236;P35236-2	.;.;.;PTN7_HUMAN;.	W	366;432;327;103;156;408	ENSP00000356248:R366W;ENSP00000309116:R432W;ENSP00000311133:R327W;ENSP00000438272:R103W;ENSP00000444624:R156W;ENSP00000418416:R408W	ENSP00000311133:R327W	R	-	1	2	PTPN7	200386072	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.686000	0.46968	1.222000	0.43521	0.563000	0.77884	CGG	PTPN7	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	ENSG00000143851		0.572	PTPN7-201	KNOWN	basic|appris_principal	protein_coding	PTPN7	HGNC	protein_coding		-	0.00	68	0	G	NM_002832		202119449	-1	tier1	-	no_errors	ENST00000309017	ensembl	human	known	74_37	missense	19.44	87	21	SNP	0.998	A
RAB11FIP2	22841	genome.wustl.edu	37	10	119765266	119765267	+	3'UTR	INS	-	-	T			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr10:119765266_119765267insT	ENST00000355624.3	-	0	5220_5221				RAB11FIP2_ENST00000476207.1_Intron	NM_014904.2	NP_055719.1	Q7L804	RFIP2_HUMAN	RAB11 family interacting protein 2 (class I)						establishment of cell polarity (GO:0030010)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|protein transport (GO:0015031)|regulated secretory pathway (GO:0045055)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasmic vesicle membrane (GO:0030659)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8)	19		Colorectal(252;0.235)		all cancers(201;0.0238)		ACAGTTTTTTGTTTTTTTTTTT	0.371																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AY037299	CCDS7602.1	10q26.12	2004-07-22			ENSG00000107560	ENSG00000107560			29152	protein-coding gene	gene with protein product		608599				11994279, 10231032	Standard	NM_014904		Approved	KIAA0941, nRip11, Rab11-FIP2	uc001ldj.2	Q7L804	OTTHUMG00000019128	ENST00000355624.3:c.*3243->A	10.37:g.119765277_119765277dupT			A6NEI4|Q3I768|Q9Y2F0	RNA	INS	-	NULL	ENST00000355624.3	37	NULL	CCDS7602.1	10																																																																																			RAB11FIP2	-	-	ENSG00000107560		0.371	RAB11FIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB11FIP2	HGNC	protein_coding	OTTHUMT00000050583.1		0.00	23	0	-	NM_014904		119765267	-1	tier1		no_errors	ENST00000476207	ensembl	human	known	74_37	rna	19.05	17	4	INS	0.000:0.000	T
RABGAP1L	9910	genome.wustl.edu	37	1	174190247	174190247	+	Silent	SNP	A	A	G			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr1:174190247A>G	ENST00000251507.4	+	3	450	c.276A>G	c.(274-276)ccA>ccG	p.P92P	RABGAP1L_ENST00000367689.3_5'UTR|RABGAP1L_ENST00000357444.6_Silent_p.P55P	NM_014857.4	NP_055672.3	B7ZAP0	RBG10_HUMAN	RAB GTPase activating protein 1-like	0										NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						GAGATATTCCAGCCAGCCAAA	0.378																																																	0													168.0	165.0	166.0					1																	174190247		2203	4300	6503	SO:0001819	synonymous_variant	0			AF279778	CCDS1314.1, CCDS41437.1, CCDS55662.1, CCDS58046.1	1q24	2011-11-21			ENSG00000152061	ENSG00000152061			24663	protein-coding gene	gene with protein product		609238				10585558	Standard	NM_014857		Approved	HHL, TBC1D18, KIAA0471, FLJ38519	uc001gjx.3	B7ZAP0	OTTHUMG00000034899	ENST00000251507.4:c.276A>G	1.37:g.174190247A>G			B7ZAA4	Silent	SNP	pfam_Rab-GTPase-TBC_dom,pfam_Kinesin-like,pfam_PTB/PI_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTB/PI_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTB/PI_dom,pfscan_Rab-GTPase-TBC_dom	p.P92	ENST00000251507.4	37	c.276	CCDS1314.1	1																																																																																			RABGAP1L	-	NULL	ENSG00000152061		0.378	RABGAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RABGAP1L	HGNC	protein_coding	OTTHUMT00000084497.1	-	0.00	31	0	A	NM_001243765		174190247	+1	tier1	-	no_errors	ENST00000251507	ensembl	human	known	74_37	silent	37.93	36	22	SNP	0.762	G
RBM10	8241	genome.wustl.edu	37	X	47039309	47039309	+	Missense_Mutation	SNP	G	G	A			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chrX:47039309G>A	ENST00000377604.3	+	10	1674	c.932G>A	c.(931-933)aGc>aAc	p.S311N	RBM10_ENST00000329236.7_Missense_Mutation_p.S234N|RBM10_ENST00000345781.6_Missense_Mutation_p.S234N|RBM10_ENST00000478410.1_3'UTR	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	311	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|mRNA processing (GO:0006397)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						AACCCACACAGCACCATGGAT	0.612																																					Melanoma(171;120 2705 19495 39241)												0													49.0	27.0	35.0					X																	47039309		2203	4299	6502	SO:0001583	missense	0			U35373	CCDS14274.1, CCDS56600.1, CCDS75969.1	Xp11.3	2014-06-09			ENSG00000182872	ENSG00000182872		"""Zinc fingers, RAN-binding domain containing"", ""G patch domain containing"", ""RNA binding motif (RRM) containing"""	9896	protein-coding gene	gene with protein product		300080				8590280, 8808293	Standard	NM_005676		Approved	DXS8237E, KIAA0122, GPATC9, ZRANB5, GPATCH9	uc004dhi.3	P98175	OTTHUMG00000021432	ENST00000377604.3:c.932G>A	X.37:g.47039309G>A	ENSP00000366829:p.Ser311Asn		C4AM81|Q14136|Q5JRR2|Q9BTE4|Q9BTX0|Q9NTB1	Missense_Mutation	SNP	pfam_G_patch_dom,pfam_RRM_dom,pfam_Znf_RanBP2,smart_RRM_dom,smart_Znf_RanBP2,smart_G_patch_dom,pfscan_Znf_RanBP2,pfscan_Znf_C2H2,pfscan_G_patch_dom,pfscan_RRM_dom	p.S311N	ENST00000377604.3	37	c.932	CCDS14274.1	X	.	.	.	.	.	.	.	.	.	.	G	15.85	2.953870	0.53293	.	.	ENSG00000182872	ENST00000377604;ENST00000329236;ENST00000345781	T;T;T	0.09350	2.99;2.99;2.99	3.99	3.99	0.46301	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.182926	0.47852	D	0.000203	T	0.15478	0.0373	L	0.47190	1.495	0.28557	N	0.911345	B;B;B;B;B	0.33238	0.256;0.16;0.356;0.118;0.403	B;B;B;B;B	0.41646	0.187;0.309;0.303;0.094;0.362	T	0.06625	-1.0816	10	0.72032	D	0.01	-6.2961	13.3466	0.60578	0.0:0.0:1.0:0.0	.	234;376;311;234;311	P98175-3;Q7Z3D7;P98175-2;P98175-4;P98175	.;.;.;.;RBM10_HUMAN	N	311;234;234	ENSP00000366829:S311N;ENSP00000328848:S234N;ENSP00000329659:S234N	ENSP00000328848:S234N	S	+	2	0	RBM10	46924253	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.726000	0.54977	1.930000	0.55929	0.431000	0.28591	AGC	RBM10	-	smart_RRM_dom,pfscan_RRM_dom	ENSG00000182872		0.612	RBM10-005	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM10	HGNC	protein_coding	OTTHUMT00000056381.1	-	0.00	55	0	G	NM_005676		47039309	+1	tier1	-	no_errors	ENST00000377604	ensembl	human	known	74_37	missense	88.14	7	52	SNP	1.000	A
RBP3	5949	genome.wustl.edu	37	10	48388265	48388265	+	Silent	SNP	G	G	A			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr10:48388265G>A	ENST00000224600.4	-	1	2726	c.2613C>T	c.(2611-2613)ccC>ccT	p.P871P	AL731561.2_ENST00000581861.1_RNA	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	871	4 X approximate tandem repeats.				lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transport (GO:0006810)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interphotoreceptor matrix (GO:0033165)|vesicle (GO:0031982)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	CTCCGGCCGTGGGCTCCCCAA	0.637																																																	0													21.0	22.0	22.0					10																	48388265		2200	4296	6496	SO:0001819	synonymous_variant	0			M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203			9921	protein-coding gene	gene with protein product		180290	"""retinol-binding protein 3, interstitial"""				Standard	NM_002900		Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.2613C>T	10.37:g.48388265G>A			Q0QD34|Q5VSR0|Q8IXN0	Silent	SNP	pfam_Interphotoreceptor_retinol-bd,pfam_Interphotorcpt_retinol-bd_N,smart_Interphotoreceptor_retinol-bd	p.P871	ENST00000224600.4	37	c.2613	CCDS7218.1	10																																																																																			RBP3	-	pfam_Interphotoreceptor_retinol-bd,smart_Interphotoreceptor_retinol-bd	ENSG00000107618		0.637	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBP3	HGNC	protein_coding	OTTHUMT00000047888.1	-	0.00	66	0	G	NM_002900		48388265	-1	tier1	-	no_errors	ENST00000224600	ensembl	human	known	74_37	silent	33.33	38	19	SNP	1.000	A
RELN	5649	genome.wustl.edu	37	7	103141201	103141201	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr7:103141201G>T	ENST00000428762.1	-	53	8817	c.8658C>A	c.(8656-8658)caC>caA	p.H2886Q	CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000343529.5_Missense_Mutation_p.H2886Q|RELN_ENST00000424685.2_Missense_Mutation_p.H2886Q	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2886					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CCTTCAGAGTGTGGGTCAAGT	0.488																																					NSCLC(146;835 1944 15585 22231 52158)												0													205.0	154.0	171.0					7																	103141201		2203	4300	6503	SO:0001583	missense	0				CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.8658C>A	7.37:g.103141201G>T	ENSP00000392423:p.His2886Gln		A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Sialidases,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom	p.H2886Q	ENST00000428762.1	37	c.8658	CCDS47680.1	7	.	.	.	.	.	.	.	.	.	.	G	10.05	1.243403	0.22796	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000424828;ENST00000448171	T;T;T	0.20738	2.05;2.05;2.05	5.36	3.56	0.40772	Neuraminidase (2);	0.217219	0.48286	D	0.000193	T	0.14657	0.0354	L	0.46157	1.445	0.29824	N	0.830569	B;B	0.02656	0.0;0.0	B;B	0.10450	0.005;0.002	T	0.22382	-1.0218	10	0.16896	T	0.51	.	3.9909	0.09537	0.1446:0.1791:0.5589:0.1174	.	2886;2886	P78509-2;P78509	.;RELN_HUMAN	Q	2886;2886;2886;403;2886	ENSP00000392423:H2886Q;ENSP00000345694:H2886Q;ENSP00000388446:H2886Q	ENSP00000345694:H2886Q	H	-	3	2	RELN	102928437	0.994000	0.37717	1.000000	0.80357	0.992000	0.81027	0.520000	0.22878	0.640000	0.30582	0.655000	0.94253	CAC	RELN	-	superfamily_Sialidases	ENSG00000189056		0.488	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RELN	HGNC	protein_coding	OTTHUMT00000348148.1	-	0.00	83	0	G	NM_005045		103141201	-1	tier1	-	no_errors	ENST00000424685	ensembl	human	known	74_37	missense	5.88	64	4	SNP	1.000	T
RGMB	285704	genome.wustl.edu	37	5	98115457	98115457	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr5:98115457G>T	ENST00000513185.1	+	2	746	c.310G>T	c.(310-312)Gta>Tta	p.V104L	RGMB_ENST00000504776.1_3'UTR|RGMB_ENST00000308234.7_Missense_Mutation_p.V145L			Q6NW40	RGMB_HUMAN	repulsive guidance molecule family member b	104					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|cell adhesion (GO:0007155)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)	anchored component of plasma membrane (GO:0046658)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)	identical protein binding (GO:0042802)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	10		all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0587)		TGGCAACCTGGTATACCATTC	0.542																																																	0													66.0	68.0	68.0					5																	98115457		1973	4157	6130	SO:0001583	missense	0			AK074887	CCDS47251.1	5q21.1	2013-11-06	2013-11-06		ENSG00000174136	ENSG00000174136			26896	protein-coding gene	gene with protein product		612687	"""RGM domain family, member B"""			19324014	Standard	NM_001012761		Approved	FLJ90406, DRAGON	uc003knc.3	Q6NW40	OTTHUMG00000162745	ENST00000513185.1:c.310G>T	5.37:g.98115457G>T	ENSP00000423256:p.Val104Leu		D6R9A0|Q8NC92	Missense_Mutation	SNP	pfam_RGM_C,pfam_RGM_N	p.V145L	ENST00000513185.1	37	c.433		5	.	.	.	.	.	.	.	.	.	.	G	23.5	4.421301	0.83559	.	.	ENSG00000174136	ENST00000308234;ENST00000513185	D;D	0.97352	-4.35;-4.35	5.4	5.4	0.78164	Repulsive guidance molecule, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.97999	0.9341	M	0.75447	2.3	0.58432	D	0.999992	D	0.63880	0.993	D	0.63381	0.914	D	0.97076	0.9781	10	0.24483	T	0.36	-14.7739	19.5247	0.95199	0.0:0.0:1.0:0.0	.	104	Q6NW40	RGMB_HUMAN	L	145;104	ENSP00000308219:V145L;ENSP00000423256:V104L	ENSP00000308219:V145L	V	+	1	0	RGMB	98143357	0.997000	0.39634	0.934000	0.37439	0.993000	0.82548	5.348000	0.66004	2.689000	0.91719	0.563000	0.77884	GTA	RGMB	-	pfam_RGM_N	ENSG00000174136		0.542	RGMB-003	KNOWN	basic	protein_coding	RGMB	HGNC	protein_coding	OTTHUMT00000370308.1		0.00	48	0	G	NM_173670		98115457	+1			no_errors	ENST00000308234	ensembl	human	known	74_37	missense	6.45	29	2	SNP	1.000	T
RGPD3	653489	genome.wustl.edu	37	2	107040103	107040103	+	Missense_Mutation	SNP	T	T	G			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr2:107040103T>G	ENST00000409886.3	-	20	4407	c.4320A>C	c.(4318-4320)aaA>aaC	p.K1440N	RGPD3_ENST00000304514.7_Missense_Mutation_p.K1440N	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1440	RanBD1 2. {ECO:0000255|PROSITE- ProRule:PRU00164}.				protein targeting to Golgi (GO:0000042)					breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						AATGCTCTACTTTTCTTTCTC	0.373																																																	0													13.0	10.0	11.0					2																	107040103		688	1563	2251	SO:0001583	missense	0				CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"""Tetratricopeptide (TTC) repeat domain containing"""	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.4320A>C	2.37:g.107040103T>G	ENSP00000386588:p.Lys1440Asn		B8ZZM4	Missense_Mutation	SNP	pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom	p.K1440N	ENST00000409886.3	37	c.4320	CCDS46379.1	2	.	.	.	.	.	.	.	.	.	.	.	11.10	1.539200	0.27475	.	.	ENSG00000153165	ENST00000409886;ENST00000304514	T;T	0.52057	0.68;0.68	2.35	2.35	0.29111	Pleckstrin homology-type (1);Ran binding protein 1 (3);	.	.	.	.	T	0.63757	0.2538	M	0.80616	2.505	0.24373	N	0.99482	D	0.76494	0.999	D	0.73708	0.981	T	0.51301	-0.8723	9	0.72032	D	0.01	-35.9455	4.1458	0.10215	0.0:0.1765:0.0:0.8235	.	1440	A6NKT7	RGPD3_HUMAN	N	1440	ENSP00000386588:K1440N;ENSP00000303659:K1440N	ENSP00000303659:K1440N	K	-	3	2	RGPD3	106406535	0.172000	0.23043	0.998000	0.56505	0.778000	0.44026	0.275000	0.18698	1.080000	0.41073	0.156000	0.16432	AAA	RGPD3	-	pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom	ENSG00000153165		0.373	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	RGPD3	HGNC	protein_coding	OTTHUMT00000329975.1	-	0.00	47	0	T	XM_929931		107040103	-1	tier1	-	no_errors	ENST00000304514	ensembl	human	known	74_37	missense	39.55	81	53	SNP	0.968	G
RIF1	55183	genome.wustl.edu	37	2	152319844	152319844	+	Silent	SNP	G	G	T			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr2:152319844G>T	ENST00000243326.5	+	29	4293	c.3810G>T	c.(3808-3810)ggG>ggT	p.G1270G	RIF1_ENST00000453091.2_Silent_p.G1270G|RIF1_ENST00000430328.2_Silent_p.G1270G|RIF1_ENST00000444746.2_Silent_p.G1270G|RIF1_ENST00000428287.2_Silent_p.G1270G			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		AAAGAGAAGGGACTTTTTCAA	0.358																																																	0													76.0	85.0	82.0					2																	152319844		2203	4300	6503	SO:0001819	synonymous_variant	0			AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"""RAP1 interacting factor homolog (yeast)"""			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.3810G>T	2.37:g.152319844G>T			A0AVS0|Q9NS16	Silent	SNP	pfam_Rif1_N,superfamily_ARM-type_fold	p.G1270	ENST00000243326.5	37	c.3810	CCDS2194.1	2																																																																																			RIF1	-	NULL	ENSG00000080345		0.358	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RIF1	HGNC	protein_coding	OTTHUMT00000254836.3		0.00	23	0	G			152319844	+1			no_errors	ENST00000243326	ensembl	human	known	74_37	silent	6.45	58	4	SNP	0.000	T
RNF24	11237	genome.wustl.edu	37	20	3944539	3944539	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr20:3944539G>T	ENST00000336095.6	-	2	377	c.126C>A	c.(124-126)ttC>ttA	p.F42L	RNF24_ENST00000358395.6_Missense_Mutation_p.F42L|RNF24_ENST00000545616.2_Missense_Mutation_p.F63L|RNF24_ENST00000432261.2_Missense_Mutation_p.F63L	NM_007219.3	NP_009150.1	Q9Y225	RNF24_HUMAN	ring finger protein 24	42						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			large_intestine(1)|upper_aerodigestive_tract(1)	2						AGTAGCAACAGAAGAGTAAAC	0.299																																																	0													73.0	68.0	70.0					20																	3944539		2203	4300	6503	SO:0001583	missense	0			AF151081	CCDS13074.1, CCDS46577.1	20p13	2013-01-09			ENSG00000101236	ENSG00000101236		"""RING-type (C3HC4) zinc fingers"""	13779	protein-coding gene	gene with protein product		612489					Standard	NM_007219		Approved	G1L	uc002wki.2	Q9Y225	OTTHUMG00000031770	ENST00000336095.6:c.126C>A	20.37:g.3944539G>T	ENSP00000336753:p.Phe42Leu		D3DVZ2|D3DVZ3|Q9UMH1	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,smart_Znf_RING,pfscan_Znf_RING	p.F63L	ENST00000336095.6	37	c.189	CCDS13074.1	20	.	.	.	.	.	.	.	.	.	.	G	19.36	3.813591	0.70912	.	.	ENSG00000101236	ENST00000336095;ENST00000358395;ENST00000545616;ENST00000432261	T;T;T;T	0.23348	1.93;1.93;1.91;1.91	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.37433	0.1003	L	0.39245	1.2	0.80722	D	1	P;P	0.49447	0.532;0.924	B;P	0.57776	0.348;0.827	T	0.01074	-1.1460	10	0.15066	T	0.55	-14.6365	18.0311	0.89285	0.0:0.0:1.0:0.0	.	63;42	Q9Y225-2;Q9Y225	.;RNF24_HUMAN	L	42;42;63;63	ENSP00000336753:F42L;ENSP00000351166:F42L;ENSP00000444711:F63L;ENSP00000388550:F63L	ENSP00000336753:F42L	F	-	3	2	RNF24	3892539	1.000000	0.71417	1.000000	0.80357	0.784000	0.44337	9.238000	0.95380	2.857000	0.98124	0.650000	0.86243	TTC	RNF24	-	NULL	ENSG00000101236		0.299	RNF24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF24	HGNC	protein_coding	OTTHUMT00000077795.2	-	0.00	52	0	G			3944539	-1	tier1	-	no_errors	ENST00000432261	ensembl	human	known	74_37	missense	6.90	54	4	SNP	1.000	T
RNH1	6050	genome.wustl.edu	37	11	494990	494991	+	Frame_Shift_Ins	INS	-	-	T			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr11:494990_494991insT	ENST00000534797.1	-	8	2597_2598	c.1190_1191insA	c.(1189-1191)aacfs	p.N397fs	RNH1_ENST00000438658.2_Frame_Shift_Ins_p.N397fs|RNH1_ENST00000356187.5_Frame_Shift_Ins_p.N397fs|RNH1_ENST00000354420.2_Frame_Shift_Ins_p.N397fs|RNH1_ENST00000397615.2_Frame_Shift_Ins_p.N397fs|RNH1_ENST00000533410.1_Frame_Shift_Ins_p.N397fs|RNH1_ENST00000397614.1_Frame_Shift_Ins_p.N397fs|RNH1_ENST00000397604.3_Frame_Shift_Ins_p.N397fs			O60930	RNH1_HUMAN	ribonuclease/angiogenin inhibitor 1	0					mitochondrial DNA replication (GO:0006264)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|nucleic acid binding (GO:0003676)|ribonuclease activity (GO:0004540)|RNA binding (GO:0003723)|RNA-DNA hybrid ribonuclease activity (GO:0004523)			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.26e-26)|Epithelial(43;1.34e-25)|OV - Ovarian serous cystadenocarcinoma(40;5.31e-20)|BRCA - Breast invasive adenocarcinoma(625;8.01e-05)|Lung(200;0.0378)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCAGGCTGTGGTTGGCCAACAG	0.693																																																	0																																										SO:0001589	frameshift_variant	0				CCDS7697.1	11p15.5	2008-02-05	2005-06-01	2005-06-01	ENSG00000023191	ENSG00000023191			10074	protein-coding gene	gene with protein product		173320	"""ribonuclease/angiogenin inhibitor"""	RNH			Standard	NM_203386		Approved	RAI	uc001lpo.1	P13489	OTTHUMG00000119086	ENST00000534797.1:c.1191dupA	11.37:g.494992_494992dupT	ENSP00000433999:p.Asn397fs		B3KQU4|O60523|O60857|Q57Z93|Q5U0C1|Q6FHD4	Frame_Shift_Ins	INS	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp	p.N397fs	ENST00000534797.1	37	c.1191_1190	CCDS7697.1	11																																																																																			RNH1	-	smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp	ENSG00000023191		0.693	RNH1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RNH1	HGNC	protein_coding	OTTHUMT00000384301.1		0.00	52	0	-	NM_203389		494991	-1	tier1		no_errors	ENST00000354420	ensembl	human	known	74_37	frame_shift_ins	37.86	64	39	INS	0.002:0.006	T
RPGRIP1	57096	genome.wustl.edu	37	14	21790080	21790080	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr14:21790080G>T	ENST00000400017.2	+	13	1679	c.1679G>T	c.(1678-1680)aGg>aTg	p.R560M	RPGRIP1_ENST00000307974.4_5'Flank|RPGRIP1_ENST00000206660.6_Missense_Mutation_p.R560M|RPGRIP1_ENST00000556336.1_Missense_Mutation_p.R533M|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.R533M|RPGRIP1_ENST00000382933.4_Missense_Mutation_p.R202M|RPGRIP1_ENST00000553500.1_3'UTR	NM_020366.3	NP_065099.3	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	560					eye photoreceptor cell development (GO:0042462)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	axoneme (GO:0005930)|nonmotile primary cilium (GO:0031513)				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		AAGCTGGAGAGGTTGACTCGA	0.398																																																	0													94.0	91.0	92.0					14																	21790080		1899	4113	6012	SO:0001583	missense	0			AF227257	CCDS45080.1	14q11.2	2013-06-06			ENSG00000092200	ENSG00000092200			13436	protein-coding gene	gene with protein product		605446		RPGRIP		10958647, 10958648	Standard	NM_020366		Approved	RGI1, LCA6, CORD13	uc001wag.3	Q96KN7	OTTHUMG00000170758	ENST00000400017.2:c.1679G>T	14.37:g.21790080G>T	ENSP00000382895:p.Arg560Met		Q7Z2W6|Q8IXV5|Q96QA8|Q9HB94|Q9HB95|Q9HBK6|Q9NR40	Missense_Mutation	SNP	pfam_DUF3250,superfamily_C2_dom	p.R560M	ENST00000400017.2	37	c.1679	CCDS45080.1	14	.	.	.	.	.	.	.	.	.	.	G	10.87	1.472385	0.26423	.	.	ENSG00000092200	ENST00000556336;ENST00000557771;ENST00000400017;ENST00000206660;ENST00000382933;ENST00000555587;ENST00000554303	T;T;T;T;T;T;T	0.80033	-0.15;-0.88;-0.91;-0.91;-0.48;-1.2;-1.33	4.58	3.68	0.42216	.	0.247255	0.39909	N	0.001223	D	0.86272	0.5893	M	0.72118	2.19	0.80722	D	1	B;D;P;P	0.89917	0.447;1.0;0.649;0.754	B;D;B;B	0.70935	0.097;0.971;0.21;0.169	D	0.86199	0.1617	10	0.66056	D	0.02	-18.1003	8.7496	0.34607	0.1593:0.0:0.8407:0.0	.	35;202;176;560	G3V3I7;Q96KN7-4;Q96KN7-5;Q96KN7	.;.;.;RPGR1_HUMAN	M	533;533;560;560;202;35;33	ENSP00000450445:R533M;ENSP00000451219:R533M;ENSP00000382895:R560M;ENSP00000206660:R560M;ENSP00000372391:R202M;ENSP00000451262:R35M;ENSP00000450426:R33M	ENSP00000206660:R560M	R	+	2	0	RPGRIP1	20859920	0.208000	0.23494	0.943000	0.38184	0.334000	0.28698	1.164000	0.31810	2.538000	0.85594	0.305000	0.20034	AGG	RPGRIP1	-	NULL	ENSG00000092200		0.398	RPGRIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RPGRIP1	HGNC	protein_coding	OTTHUMT00000410258.1		0.00	54	0	G	NM_020366		21790080	+1			no_errors	ENST00000206660	ensembl	human	known	74_37	missense	6.06	62	4	SNP	0.898	T
RPL7L1	285855	genome.wustl.edu	37	6	42848666	42848666	+	Missense_Mutation	SNP	G	G	A			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr6:42848666G>A	ENST00000493763.1	+	2	385	c.82G>A	c.(82-84)Gcc>Acc	p.A28T	RPL7L1_ENST00000602561.1_Missense_Mutation_p.A28T|RPL7L1_ENST00000397415.3_3'UTR|RPL7L1_ENST00000424341.2_Missense_Mutation_p.A28T|RPL7L1_ENST00000304734.5_Missense_Mutation_p.A28T	NM_198486.2	NP_940888.2	Q6DKI1	RL7L_HUMAN	ribosomal protein L7-like 1	28						ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)	6	Colorectal(47;0.196)		Colorectal(64;0.00237)|all cancers(41;0.00288)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.088)			AGCCCTCAAAGCCACCCAGGC	0.408																																																	0													37.0	42.0	40.0					6																	42848666		2202	4299	6501	SO:0001583	missense	0				CCDS4873.1	6p21.1	2011-01-14			ENSG00000146223	ENSG00000146223		"""L ribosomal proteins"""	21370	protein-coding gene	gene with protein product							Standard	NM_198486		Approved	dJ475N16.4	uc003osq.1	Q6DKI1	OTTHUMG00000014710	ENST00000493763.1:c.82G>A	6.37:g.42848666G>A	ENSP00000418221:p.Ala28Thr		A8K7D4|B7Z652|Q5TFZ5|Q6PEK3	Missense_Mutation	SNP	pfam_Ribosomal_L30_ferredoxin-like,pfam_Ribosomal_L30_N,superfamily_Ribosomal_L30_ferredoxin-like,tigrfam_Ribosomal_L7_euk	p.A28T	ENST00000493763.1	37	c.82	CCDS4873.1	6	.	.	.	.	.	.	.	.	.	.	G	34	5.293835	0.95546	.	.	ENSG00000146223	ENST00000493763;ENST00000304734;ENST00000424341	.	.	.	4.92	4.92	0.64577	Ribosomal protein L30, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.82531	0.5057	M	0.91561	3.22	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.995	D	0.84701	0.0728	9	0.46703	T	0.11	.	15.9599	0.79923	0.0:0.0:1.0:0.0	.	28;28	B7Z652;Q6DKI1	.;RL7L_HUMAN	T	28	.	ENSP00000346063:A28T	A	+	1	0	RPL7L1	42956644	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.821000	0.75272	2.447000	0.82792	0.655000	0.94253	GCC	RPL7L1	-	pfam_Ribosomal_L30_N,tigrfam_Ribosomal_L7_euk	ENSG00000146223		0.408	RPL7L1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL7L1	HGNC	protein_coding	OTTHUMT00000314417.1	-	0.00	90	0	G	XM_209769		42848666	+1	tier1	-	no_errors	ENST00000304734	ensembl	human	known	74_37	missense	36.76	129	75	SNP	1.000	A
RS1	6247	genome.wustl.edu	37	X	18665448	18665448	+	Nonsense_Mutation	SNP	G	G	T			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chrX:18665448G>T	ENST00000379984.3	-	4	229	c.189C>A	c.(187-189)tgC>tgA	p.C63*	CDKL5_ENST00000379996.3_Intron|RS1_ENST00000476595.1_5'UTR|CDKL5_ENST00000379989.3_Intron	NM_000330.3	NP_000321.1	O15537	XLRS1_HUMAN	retinoschisin 1	63	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				adaptation of rhodopsin mediated signaling (GO:0016062)|cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|retina layer formation (GO:0010842)|visual perception (GO:0007601)	extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|phosphatidylserine binding (GO:0001786)			cervix(1)|endometrium(4)|large_intestine(5)|lung(2)|ovary(2)|skin(1)	15	Hepatocellular(33;0.183)					TGTGATATGGGCATTCTGGGA	0.478																																																	0													72.0	67.0	69.0					X																	18665448		2203	4300	6503	SO:0001587	stop_gained	0			AF014459	CCDS14187.1	Xp22.2-p22.1	2014-09-17	2008-07-29		ENSG00000102104	ENSG00000102104			10457	protein-coding gene	gene with protein product		300839	"""retinoschisis (X-linked, juvenile) 1"""	RS		9326935, 17804407	Standard	NM_000330		Approved	XLRS1	uc004cyo.3	O15537	OTTHUMG00000021216	ENST00000379984.3:c.189C>A	X.37:g.18665448G>T	ENSP00000369320:p.Cys63*		Q0QD39	Nonsense_Mutation	SNP	pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.C63*	ENST00000379984.3	37	c.189	CCDS14187.1	X	.	.	.	.	.	.	.	.	.	.	G	31	5.104591	0.94245	.	.	ENSG00000102104	ENST00000379984	.	.	.	5.43	3.64	0.41730	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.3004	0.26418	0.3956:0.0:0.6043:0.0	.	.	.	.	X	63	.	ENSP00000369320:C63X	C	-	3	2	RS1	18575369	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.277000	0.33167	1.052000	0.40392	0.523000	0.50628	TGC	RS1	-	smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	ENSG00000102104		0.478	RS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RS1	HGNC	protein_coding	OTTHUMT00000055949.1		0.00	44	0	G			18665448	-1			no_errors	ENST00000379984	ensembl	human	known	74_37	nonsense	5.80	65	4	SNP	1.000	T
RSPH6A	81492	genome.wustl.edu	37	19	46307822	46307822	+	Silent	SNP	G	G	T			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr19:46307822G>T	ENST00000221538.3	-	3	1483	c.1341C>A	c.(1339-1341)gcC>gcA	p.A447A	RSPH6A_ENST00000597055.1_Silent_p.A447A|RSPH6A_ENST00000600188.1_Silent_p.A183A	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	447						intracellular (GO:0005622)				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						TCACGATCTGGGCTGGAGTGA	0.617																																																	0													95.0	72.0	80.0					19																	46307822		2203	4300	6503	SO:0001819	synonymous_variant	0			AL136761	CCDS12675.1	19q13.3	2010-02-17	2009-11-18	2009-11-18	ENSG00000104941	ENSG00000104941			14241	protein-coding gene	gene with protein product		607548	"""radial spokehead-like 1"""	RSHL1		11237735	Standard	NM_030785		Approved	RSP4, RSP6, RSPH4B	uc002pdm.3	Q9H0K4		ENST00000221538.3:c.1341C>A	19.37:g.46307822G>T			Q53FE2|Q6PEZ9	Silent	SNP	pfam_Radial_spoke	p.A447	ENST00000221538.3	37	c.1341	CCDS12675.1	19																																																																																			RSPH6A	-	pfam_Radial_spoke	ENSG00000104941		0.617	RSPH6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RSPH6A	HGNC	protein_coding	OTTHUMT00000461657.1	-	0.00	77	0	G			46307822	-1	tier1	-	no_errors	ENST00000221538	ensembl	human	known	74_37	silent	6.15	61	4	SNP	0.038	T
RYR3	6263	genome.wustl.edu	37	15	33831636	33831636	+	Silent	SNP	C	C	T			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr15:33831636C>T	ENST00000389232.4	+	6	589	c.519C>T	c.(517-519)ctC>ctT	p.L173L	RYR3_ENST00000415757.3_Silent_p.L173L	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	173	MIR 2. {ECO:0000255|PROSITE- ProRule:PRU00131}.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ACCTCATCCTCGTCAGCGTGT	0.438																																																	0													87.0	85.0	86.0					15																	33831636		1969	4142	6111	SO:0001819	synonymous_variant	0				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.519C>T	15.37:g.33831636C>T			O15175|Q15412	Silent	SNP	pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.L173	ENST00000389232.4	37	c.519	CCDS45210.1	15																																																																																			RYR3	-	pfam_Ins145_P3_rcpt,superfamily_MIR_motif,smart_MIR_motif,prints_Ryan_recept,pfscan_MIR_motif	ENSG00000198838		0.438	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR3	HGNC	protein_coding	OTTHUMT00000417514.1	-	0.00	44	0	C			33831636	+1	tier1	-	no_errors	ENST00000389232	ensembl	human	known	74_37	silent	34.25	48	25	SNP	0.219	T
RYR3	6263	genome.wustl.edu	37	15	33922180	33922180	+	Nonsense_Mutation	SNP	G	G	T			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr15:33922180G>T	ENST00000389232.4	+	22	2789	c.2719G>T	c.(2719-2721)Gag>Tag	p.E907*	RYR3_ENST00000415757.3_Nonsense_Mutation_p.E907*	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	907	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TTGCCTTGTGGAGTTTTCAAA	0.378																																																	0													96.0	86.0	89.0					15																	33922180		1851	4100	5951	SO:0001587	stop_gained	0				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.2719G>T	15.37:g.33922180G>T	ENSP00000373884:p.Glu907*		O15175|Q15412	Nonsense_Mutation	SNP	pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.E907*	ENST00000389232.4	37	c.2719	CCDS45210.1	15	.	.	.	.	.	.	.	.	.	.	G	42	9.747860	0.99253	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	.	.	.	5.35	5.35	0.76521	.	0.059322	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	19.2593	0.93961	0.0:0.0:1.0:0.0	.	.	.	.	X	907	.	ENSP00000354735:E907X	E	+	1	0	RYR3	31709472	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.146000	0.94640	2.770000	0.95276	0.650000	0.86243	GAG	RYR3	-	pfam_Ryanodine_rcpt	ENSG00000198838		0.378	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR3	HGNC	protein_coding	OTTHUMT00000417514.1	-	0.00	37	0	G			33922180	+1	tier1	-	no_errors	ENST00000389232	ensembl	human	known	74_37	nonsense	6.06	62	4	SNP	1.000	T
SACS	26278	genome.wustl.edu	37	13	23905608	23905608	+	Missense_Mutation	SNP	A	A	C			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr13:23905608A>C	ENST00000382292.3	-	9	12680	c.12407T>G	c.(12406-12408)cTt>cGt	p.L4136R	SACS_ENST00000382298.3_Missense_Mutation_p.L4136R|SACS_ENST00000402364.1_Missense_Mutation_p.L3386R			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	4136					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TAAACTGTCAAGTTTCTCACC	0.383																																																	0													111.0	112.0	111.0					13																	23905608		2203	4300	6503	SO:0001583	missense	0			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.12407T>G	13.37:g.23905608A>C	ENSP00000371729:p.Leu4136Arg		O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	pfam_HEPN,pfam_Ubiquitin_dom,superfamily_HATPase_ATP-bd,superfamily_DnaJ_domain,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_domain,pfscan_Ubiquitin_supergroup	p.L4136R	ENST00000382292.3	37	c.12407	CCDS9300.2	13	.	.	.	.	.	.	.	.	.	.	A	16.37	3.105431	0.56291	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.92647	-2.93;-3.08;-2.93	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	D	0.94427	0.8207	L	0.55990	1.75	0.53005	D	0.999965	D	0.71674	0.998	D	0.66084	0.941	D	0.95033	0.8171	10	0.87932	D	0	.	15.2384	0.73450	1.0:0.0:0.0:0.0	.	4136	Q9NZJ4	SACS_HUMAN	R	4136;3386;4136	ENSP00000371729:L4136R;ENSP00000385844:L3386R;ENSP00000371735:L4136R	ENSP00000371729:L4136R	L	-	2	0	SACS	22803608	1.000000	0.71417	0.995000	0.50966	0.416000	0.31233	9.261000	0.95576	1.989000	0.58080	0.528000	0.53228	CTT	SACS	-	NULL	ENSG00000151835		0.383	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SACS	HGNC	protein_coding	OTTHUMT00000044148.3		0.00	9	0	A	NM_014363		23905608	-1			no_errors	ENST00000382292	ensembl	human	known	74_37	missense	8.70	42	4	SNP	1.000	C
SAMD4B	55095	genome.wustl.edu	37	19	39860549	39860549	+	Nonsense_Mutation	SNP	G	G	T			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr19:39860549G>T	ENST00000314471.6	+	6	1486	c.451G>T	c.(451-453)Gaa>Taa	p.E151*	SAMD4B_ENST00000596368.1_Nonsense_Mutation_p.E151*|SAMD4B_ENST00000598913.1_Nonsense_Mutation_p.E151*|RN7SL566P_ENST00000467650.2_RNA	NM_018028.2	NP_060498.2	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B	151					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2)	15	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			GAGCCACCTGGAAGAGCGGTT	0.637																																																	0													40.0	32.0	34.0					19																	39860549		2203	4300	6503	SO:0001587	stop_gained	0				CCDS33020.1	19q13.2	2013-01-10				ENSG00000179134		"""Sterile alpha motif (SAM) domain containing"""	25492	protein-coding gene	gene with protein product	"""smaug homolog B (Drosophila)"""					16221671	Standard	XM_005259029		Approved	FLJ10211, MGC99832, SMGB, hSmaug2	uc002olb.3	Q5PRF9		ENST00000314471.6:c.451G>T	19.37:g.39860549G>T	ENSP00000317224:p.Glu151*		A5Z0M6|Q6P194	Nonsense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM	p.E151*	ENST00000314471.6	37	c.451	CCDS33020.1	19	.	.	.	.	.	.	.	.	.	.	G	46	12.771826	0.99695	.	.	ENSG00000179134	ENST00000314471;ENST00000429637	.	.	.	5.52	4.47	0.54385	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	13.4493	0.61161	0.0:0.0:0.8418:0.1582	.	.	.	.	X	151	.	ENSP00000317224:E151X	E	+	1	0	SAMD4B	44552389	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.831000	0.99420	1.313000	0.45069	-0.181000	0.13052	GAA	SAMD4B	-	NULL	ENSG00000179134		0.637	SAMD4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SAMD4B	HGNC	protein_coding	OTTHUMT00000464467.1		0.00	57	0	G	NM_018028		39860549	+1			no_errors	ENST00000314471	ensembl	human	known	74_37	nonsense	6.45	58	4	SNP	1.000	T
SCN4B	6330	genome.wustl.edu	37	11	118006825	118006826	+	3'UTR	INS	-	-	A			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr11:118006825_118006826insA	ENST00000324727.4	-	0	1749_1750				SCN4B_ENST00000423160.2_5'UTR	NM_001142349.1|NM_174934.3	NP_001135821.1|NP_777594.1	Q8IWT1	SCN4B_HUMAN	sodium channel, voltage-gated, type IV, beta subunit						AV node cell to bundle of His cell communication (GO:0086067)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|positive regulation of sodium ion transport (GO:0010765)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|voltage-gated sodium channel complex (GO:0001518)	ion channel binding (GO:0044325)|sodium channel regulator activity (GO:0017080)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;3.33e-05)|Epithelial(105;0.00126)	Valproic Acid(DB00313)|Zonisamide(DB00909)	AAGCAGGGGAGAGCTGGGCTCA	0.698																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AY149967	CCDS8389.1, CCDS44744.1	11q23.3	2014-09-17	2012-02-28		ENSG00000177098	ENSG00000177098		"""Sodium channels"", ""Immunoglobulin superfamily / V-set domain containing"""	10592	protein-coding gene	gene with protein product		608256	"""sodium channel, voltage-gated, type IV, beta"""				Standard	NM_174934		Approved	LQT10	uc001pse.3	Q8IWT1	OTTHUMG00000166994	ENST00000324727.4:c.*917->T	11.37:g.118006826_118006826dupA			E9PPT5|Q6PIG5	RNA	INS	-	NULL	ENST00000324727.4	37	NULL	CCDS8389.1	11																																																																																			SCN4B	-	-	ENSG00000177098		0.698	SCN4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN4B	HGNC	protein_coding	OTTHUMT00000392326.1		0.00	13	0	-			118006826	-1	tier1		no_errors	ENST00000423160	ensembl	human	known	74_37	rna	50.00	2	2	INS	0.000:0.000	A
SEC24A	10802	genome.wustl.edu	37	5	134053838	134053838	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr5:134053838G>T	ENST00000398844.2	+	20	3233	c.2945G>T	c.(2944-2946)gGa>gTa	p.G982V	RNU6-757P_ENST00000410334.1_RNA	NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	982					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of protein secretion (GO:0050714)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045714)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGCAGAGATGGAGCTTTCCTC	0.433																																																	0													105.0	103.0	104.0					5																	134053838		1892	4130	6022	SO:0001583	missense	0			AJ131244	CCDS43363.1, CCDS58967.1	5q31.1	2013-10-21	2013-10-21		ENSG00000113615	ENSG00000113615			10703	protein-coding gene	gene with protein product		607183	"""SEC24 (S. cerevisiae) related gene family, member A"", ""SEC24 family, member A (S. cerevisiae)"""			10075675, 10329445	Standard	NM_021982		Approved		uc003kzs.3	O95486	OTTHUMG00000163064	ENST00000398844.2:c.2945G>T	5.37:g.134053838G>T	ENSP00000381823:p.Gly982Val		A8MVW3|Q8WUV2|Q96GP7	Missense_Mutation	SNP	pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom	p.G982V	ENST00000398844.2	37	c.2945	CCDS43363.1	5	.	.	.	.	.	.	.	.	.	.	G	21.0	4.078434	0.76528	.	.	ENSG00000113615	ENST00000398844	T	0.38077	1.16	5.31	5.31	0.75309	Gelsolin domain (1);	0.105548	0.64402	D	0.000005	T	0.71082	0.3298	H	0.95402	3.665	0.80722	D	1	D;D	0.67145	0.979;0.996	P;D	0.63488	0.732;0.915	T	0.81324	-0.0984	10	0.87932	D	0	-12.1357	18.9836	0.92763	0.0:0.0:1.0:0.0	.	746;982	B4E205;O95486	.;SC24A_HUMAN	V	982	ENSP00000381823:G982V	ENSP00000381823:G982V	G	+	2	0	SEC24A	134081737	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.473000	0.73572	2.500000	0.84329	0.467000	0.42956	GGA	SEC24A	-	pfam_Gelsolin_dom	ENSG00000113615		0.433	SEC24A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC24A	HGNC	protein_coding	OTTHUMT00000371563.1		0.00	20	0	G			134053838	+1			no_errors	ENST00000398844	ensembl	human	known	74_37	missense	5.56	34	2	SNP	1.000	T
SETDB2	83852	genome.wustl.edu	37	13	50062692	50062692	+	Missense_Mutation	SNP	C	C	G			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr13:50062692C>G	ENST00000317257.8	+	13	2704	c.1879C>G	c.(1879-1881)Cta>Gta	p.L627V	SETDB2_ENST00000354234.4_Missense_Mutation_p.L615V	NM_031915.2	NP_114121.2	Q96T68	SETB2_HUMAN	SET domain, bifurcated 2	627	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				chromosome segregation (GO:0007059)|heart looping (GO:0001947)|histone H3-K9 methylation (GO:0051567)|left/right axis specification (GO:0070986)|mitotic nuclear division (GO:0007067)|negative regulation of transcription, DNA-templated (GO:0045892)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	15		Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.1e-09)		ATCTGATTCTCTAACAAAGTT	0.398																																																	0													70.0	73.0	72.0					13																	50062692		2203	4300	6503	SO:0001583	missense	0			AF334407	CCDS9417.1, CCDS53868.1	13q14	2011-07-01	2003-05-06	2003-05-09	ENSG00000136169	ENSG00000136169		"""Chromatin-modifying enzymes / K-methyltransferases"""	20263	protein-coding gene	gene with protein product		607865	"""chromosome 13 open reading frame 4"""	C13orf4		11306461	Standard	NM_031915		Approved	CLLD8, CLLL8, KMT1F	uc001vda.3	Q96T68	OTTHUMG00000016918	ENST00000317257.8:c.1879C>G	13.37:g.50062692C>G	ENSP00000326477:p.Leu627Val		Q5TC65|Q5TC66|Q5W0A7|Q659A7|Q86UD6|Q96AI6	Missense_Mutation	SNP	pfam_SET_dom,pfam_Pre-SET_dom,pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Methyl_CpG_DNA-bd,pfscan_SET_dom,pfscan_Pre-SET_dom	p.L627V	ENST00000317257.8	37	c.1879	CCDS9417.1	13	.	.	.	.	.	.	.	.	.	.	C	8.783	0.928825	0.18131	.	.	ENSG00000136169	ENST00000354234;ENST00000317257	D;D	0.81659	-1.52;-1.52	5.34	0.401	0.16338	SET domain (3);	0.424572	0.23532	N	0.047176	T	0.64972	0.2647	L	0.52573	1.65	0.09310	N	1	P;P	0.49358	0.837;0.923	B;B	0.39503	0.2;0.301	T	0.56414	-0.7983	10	0.15952	T	0.53	.	2.9571	0.05880	0.1303:0.4546:0.2547:0.1604	.	615;627	Q96T68-2;Q96T68	.;SETB2_HUMAN	V	615;627	ENSP00000346175:L615V;ENSP00000326477:L627V	ENSP00000326477:L627V	L	+	1	2	SETDB2	48960693	0.058000	0.20735	0.005000	0.12908	0.650000	0.38633	0.630000	0.24553	0.624000	0.30286	-0.136000	0.14681	CTA	SETDB2	-	pfam_SET_dom,smart_SET_dom,pfscan_SET_dom	ENSG00000136169		0.398	SETDB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SETDB2	HGNC	protein_coding	OTTHUMT00000044925.1	-	0.00	52	0	C	NM_031915		50062692	+1	tier1	-	no_errors	ENST00000317257	ensembl	human	known	74_37	missense	7.37	88	7	SNP	0.000	G
SETX	23064	genome.wustl.edu	37	9	135158548	135158548	+	Intron	DEL	A	A	-			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr9:135158548delA	ENST00000224140.5	-	19	6729				SETX_ENST00000393220.1_Intron|SETX_ENST00000372169.2_Intron	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin						cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		AATCAGATGCAAAAAAAAAAA	0.378																																																	0																																										SO:0001627	intron_variant	0			AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"""amyotrophic lateral sclerosis 4"", ""spinocerebellar ataxia, recessive, non-Friedreich type 1"""	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.6546+102T>-	9.37:g.135158548delA			A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	RNA	DEL	-	NULL	ENST00000224140.5	37	NULL	CCDS6947.1	9																																																																																			SETX	-	-	ENSG00000107290		0.378	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETX	HGNC	protein_coding	OTTHUMT00000054774.3		0.00	27	0	A	NM_015046		135158548	-1	tier1		no_errors	ENST00000474172	ensembl	human	known	74_37	rna	7.69	72	6	DEL	0.010	-
SHB	6461	genome.wustl.edu	37	9	38016031	38016031	+	Missense_Mutation	SNP	T	T	G			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr9:38016031T>G	ENST00000377707.3	-	2	1380	c.815A>C	c.(814-816)tAt>tCt	p.Y272S	SHB_ENST00000377700.4_Missense_Mutation_p.Y272S|RP11-613M10.9_ENST00000540557.1_Missense_Mutation_p.Y272S	NM_003028.2	NP_003019.2	Q15464	SHB_HUMAN	Src homology 2 domain containing adaptor protein B	272	Mediates interaction with LAT, PTK2/FAK1, JAK1 and JAK3.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|endometrium(4)|lung(1)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)	11		all_epithelial(88;0.122)		GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658)		CTGTGCCTCATAGGGCTCCAT	0.557																																																	0													199.0	201.0	200.0					9																	38016031		2017	4203	6220	SO:0001583	missense	0				CCDS43806.1	9p13.2	2013-09-23	2005-05-24		ENSG00000107338	ENSG00000107338		"""SH2 domain containing"""	10838	protein-coding gene	gene with protein product		600314	"""SHB adaptor protein (a Src homology 2 protein)"", ""SHB (Src homology 2 domain containing) adaptor protein B"""			7713524	Standard	NM_003028		Approved		uc004aax.3	Q15464	OTTHUMG00000019936	ENST00000377707.3:c.815A>C	9.37:g.38016031T>G	ENSP00000366936:p.Tyr272Ser		B9EGM0|D3DRQ5|Q504U5|Q5VUM8	Missense_Mutation	SNP	pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2	p.Y272S	ENST00000377707.3	37	c.815	CCDS43806.1	9	.	.	.	.	.	.	.	.	.	.	T	22.4	4.282283	0.80692	.	.	ENSG00000107338	ENST00000377707;ENST00000377700	T	0.30981	1.51	5.86	5.86	0.93980	.	0.428219	0.19937	N	0.102731	T	0.53061	0.1773	M	0.64997	1.995	0.44711	D	0.997702	D	0.65815	0.995	D	0.72982	0.979	T	0.54186	-0.8331	10	0.87932	D	0	-14.0477	14.2061	0.65734	0.0:0.0:0.0:1.0	.	272	Q15464	SHB_HUMAN	S	272	ENSP00000366936:Y272S	ENSP00000366929:Y272S	Y	-	2	0	SHB	38006031	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.963000	0.56773	2.232000	0.73038	0.533000	0.62120	TAT	SHB	-	NULL	ENSG00000107338		0.557	SHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHB	HGNC	protein_coding	OTTHUMT00000052490.1	-	0.00	30	0	T			38016031	-1	tier1	-	no_errors	ENST00000377707	ensembl	human	known	74_37	missense	42.22	26	19	SNP	1.000	G
SIPA1L1	26037	genome.wustl.edu	37	14	72117066	72117066	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr14:72117066G>T	ENST00000555818.1	+	5	2181	c.1833G>T	c.(1831-1833)caG>caT	p.Q611H	SIPA1L1_ENST00000537413.1_Missense_Mutation_p.Q86H|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.Q611H|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.Q611H	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	611					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		ACTACCAGCAGAAAGTAGGCA	0.433																																																	0													207.0	201.0	203.0					14																	72117066		2203	4300	6503	SO:0001583	missense	0			AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.1833G>T	14.37:g.72117066G>T	ENSP00000450832:p.Gln611His		J3KP19|O95321|Q9UDU4|Q9UNU4	Missense_Mutation	SNP	pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom	p.Q611H	ENST00000555818.1	37	c.1833	CCDS9807.1	14	.	.	.	.	.	.	.	.	.	.	G	1.965	-0.437936	0.04636	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550;ENST00000537413;ENST00000555066	D;D;D;D;D	0.92647	-3.08;-3.08;-3.08;-3.08;-3.08	5.46	4.57	0.56435	Rap/ran-GAP (1);	0.256151	0.38897	N	0.001522	T	0.59569	0.2203	N	0.00019	-2.79	0.33146	D	0.545004	B;B;B;B;B	0.06786	0.0;0.0;0.0;0.0;0.001	B;B;B;B;B	0.04013	0.0;0.0;0.0;0.0;0.001	T	0.67650	-0.5616	10	0.02654	T	1	-20.5803	9.3525	0.38147	0.0771:0.0:0.7461:0.1767	.	86;611;86;611;611	F5GYF8;A6H8W6;B4DYX7;O43166-2;O43166	.;.;.;.;SI1L1_HUMAN	H	611;611;611;86;127	ENSP00000370630:Q611H;ENSP00000450832:Q611H;ENSP00000351352:Q611H;ENSP00000440682:Q86H;ENSP00000452450:Q127H	ENSP00000351352:Q611H	Q	+	3	2	SIPA1L1	71186819	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.550000	0.45811	1.441000	0.47550	0.591000	0.81541	CAG	SIPA1L1	-	pfscan_Rap_GAP_dom	ENSG00000197555		0.433	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SIPA1L1	HGNC	protein_coding	OTTHUMT00000412806.1	-	0.00	30	0	G	NM_015556		72117066	+1	tier1	-	no_errors	ENST00000555818	ensembl	human	known	74_37	missense	12.90	27	4	SNP	1.000	T
SLC10A7	84068	genome.wustl.edu	37	4	147179885	147179885	+	Missense_Mutation	SNP	A	A	C			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr4:147179885A>C	ENST00000507030.1	-	11	951	c.952T>G	c.(952-954)Ttg>Gtg	p.L318V	SLC10A7_ENST00000264986.3_3'UTR|SLC10A7_ENST00000394062.3_Missense_Mutation_p.L318V|SLC10A7_ENST00000335472.7_Missense_Mutation_p.L318V|SLC10A7_ENST00000432059.2_Missense_Mutation_p.L305V			Q0GE19	NTCP7_HUMAN	solute carrier family 10, member 7	318					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|skin(1)	16	all_hematologic(180;0.151)					GTTGGCACCAACACACTTCCC	0.448																																																	0													146.0	131.0	137.0					4																	147179885		2203	4300	6503	SO:0001583	missense	0			AY346324	CCDS3768.1, CCDS34073.1, CCDS75198.1	4q31.2	2013-07-18	2013-07-18	2006-12-19	ENSG00000120519	ENSG00000120519		"""Solute carriers"""	23088	protein-coding gene	gene with protein product		611459	"""chromosome 4 open reading frame 13"""	C4orf13		15932064	Standard	NM_032128		Approved	MGC25043, DKFZp566M114, DKFZp313H0531, DKFZp779O2438	uc003ikr.2	Q0GE19	OTTHUMG00000161437	ENST00000507030.1:c.952T>G	4.37:g.147179885A>C	ENSP00000421275:p.Leu318Val		A7E2E6|A7MAX9|Q0VAP9|Q45NG1|Q45NG2|Q5H9S6|Q6P4E6|Q8IZ62|Q8NBP8|Q9H0M9	Missense_Mutation	SNP	pfam_BilAc/Na_symport,pirsf_Put_Na-Bile_cotransptr	p.L318V	ENST00000507030.1	37	c.952	CCDS34073.1	4	.	.	.	.	.	.	.	.	.	.	A	21.8	4.204615	0.79127	.	.	ENSG00000120519	ENST00000432059;ENST00000335472;ENST00000507030;ENST00000394062	.	.	.	5.54	-5.94	0.02247	.	0.000000	0.85682	D	0.000000	T	0.70422	0.3222	M	0.70275	2.135	0.80722	D	1	D;D;D	0.62365	0.984;0.988;0.991	P;D;P	0.63381	0.894;0.914;0.861	T	0.75628	-0.3252	9	0.87932	D	0	-13.2707	14.7668	0.69646	0.4662:0.0:0.5338:0.0	.	305;318;318	Q0GE19-3;Q0GE19;Q0GE19-2	.;NTCP7_HUMAN;.	V	305;318;318;318	.	ENSP00000334594:L318V	L	-	1	2	SLC10A7	147399335	0.667000	0.27484	0.859000	0.33776	0.998000	0.95712	0.583000	0.23849	-1.099000	0.03034	0.533000	0.62120	TTG	SLC10A7	-	pirsf_Put_Na-Bile_cotransptr	ENSG00000120519		0.448	SLC10A7-009	KNOWN	basic|CCDS	protein_coding	SLC10A7	HGNC	protein_coding	OTTHUMT00000366932.1	-	0.00	41	0	A	NM_032128		147179885	-1	tier1	-	no_errors	ENST00000394062	ensembl	human	known	74_37	missense	41.03	23	16	SNP	0.565	C
SLC22A18	5002	genome.wustl.edu	37	11	2924637	2924637	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr11:2924637G>T	ENST00000380574.1	+	2	493	c.62G>T	c.(61-63)gGc>gTc	p.G21V	SLC22A18_ENST00000347936.2_Missense_Mutation_p.G21V|SLC22A18_ENST00000312221.5_Missense_Mutation_p.G21V|SLC22A18_ENST00000449793.2_Missense_Mutation_p.G21V|SLC22A18AS_ENST00000533594.1_Intron|SLC22A18AS_ENST00000455942.2_Intron			Q96BI1	S22AI_HUMAN	solute carrier family 22, member 18	21					drug transmembrane transport (GO:0006855)|drug transport (GO:0015893)|excretion (GO:0007588)|organic cation transport (GO:0015695)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	drug transmembrane transporter activity (GO:0015238)|symporter activity (GO:0015293)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	8		all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198)		BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.192)		AGCGCTCTAGGCCGGTCCTCG	0.632																																																	0													72.0	64.0	66.0					11																	2924637		2202	4299	6501	SO:0001583	missense	0			AF028738	CCDS7740.1	11p15.5	2013-05-22	2008-01-11	2004-01-21	ENSG00000110628	ENSG00000110628		"""Solute carriers"""	10964	protein-coding gene	gene with protein product		602631	"""solute carrier family 22 (organic cation transporter), member 1-like"""	ORCTL2, BWSCR1A, IMPT1, SLC22A1L		9499412, 9520460	Standard	NM_183233		Approved	BWR1A, TSSC5, ITM	uc001lwx.3	Q96BI1	OTTHUMG00000010037	ENST00000380574.1:c.62G>T	11.37:g.2924637G>T	ENSP00000369948:p.Gly21Val		O14906|O43562|O60485|O60680|Q7LDS5|Q7LGF7	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Tet-R_TetA/multi-R_MdtG	p.G21V	ENST00000380574.1	37	c.62	CCDS7740.1	11	.	.	.	.	.	.	.	.	.	.	G	10.30	1.313156	0.23908	.	.	ENSG00000110628	ENST00000347936;ENST00000312221;ENST00000449793;ENST00000380574;ENST00000485423	T;T;T;T;T	0.58797	0.48;0.48;0.31;0.48;1.46	3.25	-1.96	0.07525	Major facilitator superfamily domain, general substrate transporter (1);	.	.	.	.	T	0.35828	0.0945	L	0.38175	1.15	0.09310	N	1	P;B	0.48911	0.917;0.112	B;B	0.35655	0.207;0.054	T	0.23261	-1.0193	9	0.46703	T	0.11	-6.9122	3.8942	0.09131	0.4259:0.1942:0.3799:0.0	.	21;21	E9PRM7;Q96BI1	.;S22AI_HUMAN	V	21	ENSP00000307859:G21V;ENSP00000311139:G21V;ENSP00000392072:G21V;ENSP00000369948:G21V;ENSP00000433019:G21V	ENSP00000311139:G21V	G	+	2	0	SLC22A18	2881213	0.000000	0.05858	0.002000	0.10522	0.012000	0.07955	-1.125000	0.03257	-0.560000	0.06102	-0.448000	0.05591	GGC	SLC22A18	-	superfamily_MFS_dom_general_subst_transpt	ENSG00000110628		0.632	SLC22A18-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC22A18	HGNC	protein_coding	OTTHUMT00000027770.1		0.00	70	0	G	NM_183233		2924637	+1			no_errors	ENST00000312221	ensembl	human	known	74_37	missense	7.84	47	4	SNP	0.009	T
SLC30A8	169026	genome.wustl.edu	37	8	118170001	118170001	+	Missense_Mutation	SNP	G	G	A			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr8:118170001G>A	ENST00000456015.2	+	4	490	c.490G>A	c.(490-492)Gag>Aag	p.E164K	SLC30A8_ENST00000427715.2_Missense_Mutation_p.E115K|SLC30A8_ENST00000521243.1_Missense_Mutation_p.E115K|SLC30A8_ENST00000519688.1_Missense_Mutation_p.E115K	NM_173851.2	NP_776250.2	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	164					cellular zinc ion homeostasis (GO:0006882)|insulin secretion (GO:0030073)|positive regulation of insulin secretion (GO:0032024)|regulation of sequestering of zinc ion (GO:0061088)|regulation of vesicle-mediated transport (GO:0060627)|response to glucose (GO:0009749)|response to interferon-gamma (GO:0034341)|response to interleukin-1 (GO:0070555)|sequestering of zinc ion (GO:0032119)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|secretory granule membrane (GO:0030667)	protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			CCTGGCATGTGAGCGCCTGCT	0.542																																					Ovarian(162;1202 1922 6011 16223 52092)												0													308.0	265.0	280.0					8																	118170001		2203	4300	6503	SO:0001583	missense	0				CCDS6322.1, CCDS55272.1	8q24.11	2014-08-12			ENSG00000164756			"""Solute carriers"""	20303	protein-coding gene	gene with protein product		611145					Standard	NM_001172811		Approved		uc003yoh.3	Q8IWU4	OTTHUMG00000164962	ENST00000456015.2:c.490G>A	8.37:g.118170001G>A	ENSP00000415011:p.Glu164Lys		A0AVP9|A5YM39|B4DPE0|Q8TCL3	Missense_Mutation	SNP	pfam_Cation_efflux,tigrfam_Cation_efflux	p.E164K	ENST00000456015.2	37	c.490	CCDS6322.1	8	.	.	.	.	.	.	.	.	.	.	G	7.409	0.634287	0.14322	.	.	ENSG00000164756	ENST00000521243;ENST00000427715;ENST00000519688;ENST00000456015	T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14	5.77	2.92	0.33932	.	0.409484	0.27518	N	0.019015	T	0.52517	0.1739	L	0.42686	1.345	0.30798	N	0.740222	B	0.29909	0.261	B	0.39465	0.3	T	0.49634	-0.8919	10	0.10111	T	0.7	-8.8904	8.0304	0.30461	0.1278:0.2554:0.6168:0.0	.	164	Q8IWU4	ZNT8_HUMAN	K	115;115;115;164	ENSP00000428545:E115K;ENSP00000407505:E115K;ENSP00000431069:E115K;ENSP00000415011:E164K	ENSP00000407505:E115K	E	+	1	0	SLC30A8	118239182	0.966000	0.33281	0.031000	0.17742	0.022000	0.10575	1.620000	0.36976	0.746000	0.32786	-0.165000	0.13383	GAG	SLC30A8	-	pfam_Cation_efflux,tigrfam_Cation_efflux	ENSG00000164756		0.542	SLC30A8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC30A8	HGNC	protein_coding	OTTHUMT00000381205.1	-	0.00	57	0	G	NM_173851		118170001	+1	tier1	-	no_errors	ENST00000456015	ensembl	human	known	74_37	missense	39.78	56	37	SNP	0.372	A
SLC45A4	57210	genome.wustl.edu	37	8	142225916	142225916	+	Missense_Mutation	SNP	G	G	C			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr8:142225916G>C	ENST00000024061.3	-	6	2037	c.1730C>G	c.(1729-1731)tCc>tGc	p.S577C	SLC45A4_ENST00000519067.1_Missense_Mutation_p.S577C|SLC45A4_ENST00000517878.1_Missense_Mutation_p.S628C|SLC45A4_ENST00000433583.2_Missense_Mutation_p.S570C	NM_001080431.1	NP_001073900.1	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4						transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			GATGCTCATGGAGACGATGCC	0.617																																																	0													200.0	144.0	163.0					8																	142225916		2203	4300	6503	SO:0001583	missense	0			AB032952	CCDS34948.1, CCDS69550.1, CCDS75795.1	8q24.3	2013-05-22						"""Solute carriers"""	29196	protein-coding gene	gene with protein product							Standard	NM_001080431		Approved	KIAA1126	uc003ywd.1	Q5BKX6		ENST00000024061.3:c.1730C>G	8.37:g.142225916G>C	ENSP00000024061:p.Ser577Cys		Q6ZRI2|Q9ULU3	Missense_Mutation	SNP	superfamily_MFS_dom_general_subst_transpt	p.S628C	ENST00000024061.3	37	c.1883	CCDS34948.1	8	.	.	.	.	.	.	.	.	.	.	G	22.7	4.330800	0.81690	.	.	ENSG00000022567	ENST00000519067;ENST00000517878;ENST00000433583;ENST00000024061	T;T;T;T	0.81415	-1.49;-1.49;-1.49;-1.49	5.41	5.41	0.78517	.	0.099124	0.64402	D	0.000001	D	0.90061	0.6896	M	0.81497	2.545	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.70935	0.935;0.971;0.971	D	0.89950	0.4079	10	0.48119	T	0.1	-48.4412	19.1903	0.93663	0.0:0.0:1.0:0.0	.	628;577;577	E7EV90;Q5BKX6-3;Q5BKX6-2	.;.;.	C	577;628;570;577	ENSP00000429059:S577C;ENSP00000428137:S628C;ENSP00000400799:S570C;ENSP00000024061:S577C	ENSP00000024061:S577C	S	-	2	0	SLC45A4	142295098	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	6.494000	0.73661	2.526000	0.85167	0.462000	0.41574	TCC	SLC45A4	-	superfamily_MFS_dom_general_subst_transpt	ENSG00000022567		0.617	SLC45A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC45A4	HGNC	protein_coding	OTTHUMT00000378571.3	-	0.00	50	0	G	XM_050325		142225916	-1	tier1	-	no_errors	ENST00000517878	ensembl	human	known	74_37	missense	12.31	57	8	SNP	1.000	C
SLC4A2	6522	genome.wustl.edu	37	7	150761424	150761424	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr7:150761424G>T	ENST00000485713.1	+	3	1227	c.187G>T	c.(187-189)Ggc>Tgc	p.G63C	SLC4A2_ENST00000461735.1_Missense_Mutation_p.G49C|SLC4A2_ENST00000413384.2_Missense_Mutation_p.G63C|SLC4A2_ENST00000310317.5_Intron|SLC4A2_ENST00000392826.2_Missense_Mutation_p.G54C	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	63	Pro-rich.				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGAGGAGCCAGGCCGCAGCTA	0.642																																																	0													29.0	29.0	29.0					7																	150761424		2203	4300	6503	SO:0001583	missense	0				CCDS5917.1, CCDS56520.1, CCDS56521.1	7q36.1	2013-07-19	2013-07-19		ENSG00000164889	ENSG00000164889		"""Solute carriers"""	11028	protein-coding gene	gene with protein product	"""anion exchanger 2 type a"", ""anion exchanger 2 type b1"", ""anion exchanger 2 type b2"""	109280	"""erythrocyte membrane protein band 3-like 1"", ""solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1)"""	EPB3L1, AE2		8434259	Standard	NM_003040		Approved	HKB3, BND3L, NBND3	uc003wit.4	P04920	OTTHUMG00000158443	ENST00000485713.1:c.187G>T	7.37:g.150761424G>T	ENSP00000419412:p.Gly63Cys		B2R6T0|B4DIT0|D3DX05|F8W682|Q45EY5|Q969L3	Missense_Mutation	SNP	pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange,prints_Anion_exchange_2,tigrfam_HCO3_transpt_euk	p.G63C	ENST00000485713.1	37	c.187	CCDS5917.1	7	.	.	.	.	.	.	.	.	.	.	g	15.13	2.743086	0.49151	.	.	ENSG00000164889	ENST00000483786;ENST00000485713;ENST00000413384;ENST00000490898;ENST00000482950;ENST00000463414;ENST00000488420;ENST00000392826;ENST00000461735	T;T;T;T;T;T;T;T;T	0.75938	0.8;-0.98;-0.98;1.38;0.81;0.8;-0.62;-0.98;-0.97	4.42	4.42	0.53409	.	0.567511	0.18169	N	0.149521	T	0.79828	0.4513	L	0.56769	1.78	0.80722	D	1	D;D;D	0.71674	0.998;0.998;0.997	P;P;P	0.55824	0.785;0.785;0.737	T	0.79790	-0.1655	10	0.44086	T	0.13	.	14.6019	0.68447	0.0:0.0:1.0:0.0	.	54;49;63	F8W682;P04920-2;P04920	.;.;B3A2_HUMAN	C	63;63;63;63;63;63;63;54;49	ENSP00000417808:G63C;ENSP00000419412:G63C;ENSP00000405600:G63C;ENSP00000418114:G63C;ENSP00000419379:G63C;ENSP00000418584:G63C;ENSP00000417221:G63C;ENSP00000376571:G54C;ENSP00000419164:G49C	ENSP00000376571:G54C	G	+	1	0	SLC4A2	150392357	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	3.729000	0.54999	2.299000	0.77371	0.454000	0.30748	GGC	SLC4A2	-	NULL	ENSG00000164889		0.642	SLC4A2-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	SLC4A2	HGNC	protein_coding	OTTHUMT00000351039.1		0.00	24	0	G	NM_003040		150761424	+1			no_errors	ENST00000413384	ensembl	human	known	74_37	missense	12.50	14	2	SNP	1.000	T
SLC5A9	200010	genome.wustl.edu	37	1	48713180	48713180	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr1:48713180G>T	ENST00000438567.2	+	14	2063	c.2011G>T	c.(2011-2013)Gcc>Tcc	p.A671S	SLC5A9_ENST00000471020.1_3'UTR|SLC5A9_ENST00000236495.5_Missense_Mutation_p.A696S|SLC5A9_ENST00000533824.1_Missense_Mutation_p.A692S	NM_001011547.2	NP_001011547.2	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9	671					sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						CCTTTTGCTGGCCATCAACAT	0.507																																																	0													117.0	108.0	111.0					1																	48713180		2203	4300	6503	SO:0001583	missense	0			BX648549	CCDS30709.2, CCDS44136.1	1p33	2013-07-19	2013-07-19		ENSG00000117834	ENSG00000117834		"""Solute carriers"""	22146	protein-coding gene	gene with protein product			"""solute carrier family 5 (sodium/glucose cotransporter), member 9"""				Standard	NM_001011547		Approved	SGLT4	uc001crn.2	Q2M3M2	OTTHUMG00000007959	ENST00000438567.2:c.2011G>T	1.37:g.48713180G>T	ENSP00000401730:p.Ala671Ser		B3KY87|B7ZL45|B7ZL47|E9PAK4|E9PJ08|Q5TET3	Missense_Mutation	SNP	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.A696S	ENST00000438567.2	37	c.2086	CCDS30709.2	1	.	.	.	.	.	.	.	.	.	.	G	9.640	1.138689	0.21123	.	.	ENSG00000117834	ENST00000533824;ENST00000438567;ENST00000236495	D;D;D	0.87412	-2.2;-2.19;-2.25	4.91	1.77	0.24775	.	0.310318	0.37761	N	0.001945	T	0.74183	0.3683	L	0.33668	1.02	0.80722	D	1	B;B;B	0.32573	0.376;0.026;0.058	B;B;B	0.32149	0.141;0.008;0.021	T	0.62034	-0.6939	10	0.10377	T	0.69	.	5.5635	0.17157	0.2525:0.0:0.6075:0.14	.	692;671;696	E9PJ08;Q2M3M2;E9PAK4	.;SC5A9_HUMAN;.	S	692;671;696	ENSP00000431900:A692S;ENSP00000401730:A671S;ENSP00000236495:A696S	ENSP00000236495:A696S	A	+	1	0	SLC5A9	48485767	0.759000	0.28416	0.996000	0.52242	0.936000	0.57629	0.322000	0.19576	0.573000	0.29400	0.561000	0.74099	GCC	SLC5A9	-	NULL	ENSG00000117834		0.507	SLC5A9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A9	HGNC	protein_coding	OTTHUMT00000022061.3	-	0.00	52	0	G	XM_117174		48713180	+1	tier1	-	no_errors	ENST00000236495	ensembl	human	known	74_37	missense	6.25	60	4	SNP	0.823	T
SLC9A3	6550	genome.wustl.edu	37	5	492104	492104	+	Silent	SNP	G	G	A			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr5:492104G>A	ENST00000264938.3	-	2	303	c.294C>T	c.(292-294)atC>atT	p.I98I	SLC9A3_ENST00000514375.1_Silent_p.I98I	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	98					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|sodium:proton antiporter activity (GO:0015385)			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			CCGCCCAGACGATGCCGCCCA	0.662																																																	0													44.0	30.0	35.0					5																	492104		2200	4297	6497	SO:0001819	synonymous_variant	0				CCDS3855.1, CCDS64116.1	5p15.3	2013-05-22	2012-03-22		ENSG00000066230	ENSG00000066230		"""Solute carriers"""	11073	protein-coding gene	gene with protein product		182307	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 3"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 3"""	NHE3		8096830	Standard	NM_004174		Approved		uc003jbe.2	P48764	OTTHUMG00000090315	ENST00000264938.3:c.294C>T	5.37:g.492104G>A			B7ZKR2|E9PF67|Q3MIW3	Silent	SNP	pfam_Cation/H_exchanger,superfamily_Reg_factor_effector_dom,prints_Na/H_exchanger_3/5,prints_NaH_exchanger,tigrfam_NaH_exchanger	p.I98	ENST00000264938.3	37	c.294	CCDS3855.1	5																																																																																			SLC9A3	-	pfam_Cation/H_exchanger,tigrfam_NaH_exchanger	ENSG00000066230		0.662	SLC9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A3	HGNC	protein_coding	OTTHUMT00000206677.2	-	0.00	98	0	G	NM_004174		492104	-1	tier1	-	no_errors	ENST00000264938	ensembl	human	known	74_37	silent	23.73	90	28	SNP	0.970	A
SLC6A18	348932	genome.wustl.edu	37	5	1242967	1242967	+	Missense_Mutation	SNP	T	T	G	rs374479506		TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr5:1242967T>G	ENST00000324642.3	+	8	1243	c.1120T>G	c.(1120-1122)Ttt>Gtt	p.F374V	SLC6A18_ENST00000296821.4_Intron	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	374					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CCTGGAAGACTTTCTGGATAA	0.652																																																	0													74.0	73.0	73.0					5																	1242967		2203	4300	6503	SO:0001583	missense	0			AK055798	CCDS3860.1	5p15	2013-07-19	2013-07-19		ENSG00000164363	ENSG00000164363		"""Solute carriers"""	26441	protein-coding gene	gene with protein product		610300	"""solute carrier family 6 (neurotransmitter transporter), member 18"", ""solute carrier family 6, member 18"""			19478081	Standard	NM_182632		Approved	FLJ31236, Xtrp2	uc003jby.2	Q96N87	OTTHUMG00000090356	ENST00000324642.3:c.1120T>G	5.37:g.1242967T>G	ENSP00000323549:p.Phe374Val			Missense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan	p.F374V	ENST00000324642.3	37	c.1120	CCDS3860.1	5	.	.	.	.	.	.	.	.	.	.	T	12.78	2.041093	0.35989	.	.	ENSG00000164363	ENST00000324642	T	0.69175	-0.38	4.71	4.71	0.59529	.	0.066051	0.64402	D	0.000011	T	0.71187	0.3310	L	0.43152	1.355	0.80722	D	1	D	0.76494	0.999	D	0.68621	0.959	T	0.66468	-0.5916	10	0.16896	T	0.51	.	11.5614	0.50778	0.0:0.0:0.0:1.0	.	374	Q96N87	S6A18_HUMAN	V	374	ENSP00000323549:F374V	ENSP00000323549:F374V	F	+	1	0	SLC6A18	1295967	1.000000	0.71417	1.000000	0.80357	0.503000	0.33858	4.296000	0.59055	1.761000	0.52028	0.459000	0.35465	TTT	SLC6A18	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport	ENSG00000164363		0.652	SLC6A18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A18	HGNC	protein_coding	OTTHUMT00000206728.3	-	0.00	57	0	T	NM_182632		1242967	+1	tier1	-	no_errors	ENST00000324642	ensembl	human	known	74_37	missense	21.36	81	22	SNP	1.000	G
SLCO1B3	28234	genome.wustl.edu	37	12	21015743	21015743	+	Missense_Mutation	SNP	T	T	C			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr12:21015743T>C	ENST00000381545.3	+	8	901	c.682T>C	c.(682-684)Tct>Cct	p.S228P	SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.S228P|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.S228P|LST3_ENST00000540229.1_Missense_Mutation_p.S228P	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	228					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)				Atorvastatin(DB01076)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Digoxin(DB00390)|Docetaxel(DB01248)|Estradiol(DB00783)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Olmesartan(DB00275)|Ouabain(DB01092)|Paclitaxel(DB01229)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Rosuvastatin(DB01098)|Valsartan(DB00177)	TGCACTGGGATCTCTGTTTGC	0.363																																																	0													188.0	163.0	171.0					12																	21015743		2203	4300	6503	SO:0001583	missense	0				CCDS8684.1	12p12	2013-05-22	2003-11-25	2003-11-26		ENSG00000111700		"""Solute carriers"""	10961	protein-coding gene	gene with protein product		605495	"""solute carrier family 21 (organic anion transporter), member 8"""	SLC21A8			Standard	NM_019844		Approved	OATP8, OATP1B3	uc001rel.4	Q9NPD5	OTTHUMG00000169011	ENST00000381545.3:c.682T>C	12.37:g.21015743T>C	ENSP00000370956:p.Ser228Pro		E7EMT8|Q5JAR4	Missense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.S228P	ENST00000381545.3	37	c.682	CCDS8684.1	12	.	.	.	.	.	.	.	.	.	.	T	24.1	4.497337	0.85069	.	.	ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000257046	ENST00000540853;ENST00000261196;ENST00000381545;ENST00000553473;ENST00000544370;ENST00000540229	T;T;T;T;T;T	0.59224	0.28;0.28;0.28;0.28;0.28;0.28	3.9	1.17	0.20885	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.74275	0.3695	M	0.86268	2.805	0.80722	D	1	D;D;D	0.76494	0.999;0.988;0.988	D;D;P	0.78314	0.991;0.923;0.873	T	0.75722	-0.3218	10	0.87932	D	0	.	10.2202	0.43192	0.0:0.0:0.3183:0.6817	.	228;228;228	Q5JAR4;B3KP78;Q9NPD5	.;.;SO1B3_HUMAN	P	228;228;228;228;52;228	ENSP00000442000:S228P;ENSP00000261196:S228P;ENSP00000370956:S228P;ENSP00000451758:S228P;ENSP00000443225:S52P;ENSP00000441269:S228P	ENSP00000441269:S228P	S	+	1	0	SLCO1B3;RP11-545J16.1	20907010	1.000000	0.71417	0.138000	0.22173	0.828000	0.46876	3.550000	0.53691	0.361000	0.24292	0.377000	0.23210	TCT	SLCO1B3	-	pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	ENSG00000111700		0.363	SLCO1B3-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	SLCO1B3	HGNC	protein_coding	OTTHUMT00000401936.1	-	0.00	58	0	T	NM_019844		21015743	+1	tier1	-	no_errors	ENST00000553473	ensembl	human	known	74_37	missense	15.00	51	9	SNP	0.995	C
SLFN5	162394	genome.wustl.edu	37	17	33586292	33586292	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr17:33586292G>T	ENST00000299977.4	+	2	731	c.583G>T	c.(583-585)Gtt>Ttt	p.V195F	SLFN5_ENST00000592325.1_Missense_Mutation_p.V195F|SLFN5_ENST00000542451.1_Missense_Mutation_p.V195F	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN	schlafen family member 5	195					cell differentiation (GO:0030154)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		GTCCACACATGTTGAATTTGT	0.388																																																	0													165.0	154.0	158.0					17																	33586292		2203	4300	6503	SO:0001583	missense	0			BX647942	CCDS32619.1	17q12	2006-04-05				ENSG00000166750			28286	protein-coding gene	gene with protein product		614952				9846487	Standard	NM_144975		Approved	MGC19764	uc002hjf.4	Q08AF3		ENST00000299977.4:c.583G>T	17.37:g.33586292G>T	ENSP00000299977:p.Val195Phe		Q08AF2|Q8WU54|Q96A82	Missense_Mutation	SNP	pfam_ATPase_AAA-4,pfam_DUF2075,superfamily_P-loop_NTPase	p.V195F	ENST00000299977.4	37	c.583	CCDS32619.1	17	.	.	.	.	.	.	.	.	.	.	G	10.50	1.367125	0.24771	.	.	ENSG00000166750	ENST00000299977;ENST00000542451	T;T	0.35236	1.32;1.32	3.55	2.58	0.30949	.	0.629773	0.12139	N	0.496024	T	0.59059	0.2166	M	0.83774	2.66	0.32021	N	0.60079	D;D;D	0.89917	0.999;0.997;1.0	D;D;D	0.97110	0.979;0.963;1.0	T	0.62186	-0.6907	10	0.87932	D	0	.	6.9122	0.24340	0.1297:0.0:0.8703:0.0	.	195;195;195	B4E128;Q08AF3;Q08AF3-2	.;SLFN5_HUMAN;.	F	195	ENSP00000299977:V195F;ENSP00000440537:V195F	ENSP00000299977:V195F	V	+	1	0	SLFN5	30610405	0.240000	0.23847	0.617000	0.29091	0.002000	0.02628	1.147000	0.31602	0.822000	0.34565	-0.253000	0.11424	GTT	SLFN5	-	pfam_ATPase_AAA-4	ENSG00000166750		0.388	SLFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLFN5	HGNC	protein_coding	OTTHUMT00000448649.2		0.00	19	0	G	NM_144975		33586292	+1			no_errors	ENST00000299977	ensembl	human	known	74_37	missense	9.30	39	4	SNP	0.844	T
SMARCC1	6599	genome.wustl.edu	37	3	47677562	47677562	+	Missense_Mutation	SNP	T	T	C			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr3:47677562T>C	ENST00000254480.5	-	23	2560	c.2441A>G	c.(2440-2442)aAa>aGa	p.K814R	SMARCC1_ENST00000425518.1_5'UTR	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1	814	Glu-rich.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|insulin receptor signaling pathway (GO:0008286)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|XY body (GO:0001741)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|protein N-terminus binding (GO:0047485)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		TTCACTATTTTTTTCATTTTC	0.348																																																	0													237.0	217.0	224.0					3																	47677562		2203	4300	6503	SO:0001583	missense	0			U66615	CCDS2758.1	3p21.31	2008-05-15			ENSG00000173473	ENSG00000173473			11104	protein-coding gene	gene with protein product		601732				8804307	Standard	NM_003074		Approved	BAF155, SRG3, Rsc8, CRACC1	uc003crq.2	Q92922	OTTHUMG00000133519	ENST00000254480.5:c.2441A>G	3.37:g.47677562T>C	ENSP00000254480:p.Lys814Arg		Q17RS0|Q6P172|Q8IWH2	Missense_Mutation	SNP	pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,superfamily_BRCT_dom,smart_Chromo_domain/shadow,smart_SANT/Myb,pfscan_SWIRM,pfscan_Myb-like_dom	p.K814R	ENST00000254480.5	37	c.2441	CCDS2758.1	3	.	.	.	.	.	.	.	.	.	.	T	13.47	2.247518	0.39697	.	.	ENSG00000173473	ENST00000254480	T	0.37584	1.19	5.48	5.48	0.80851	.	0.411112	0.30109	N	0.010393	T	0.23330	0.0564	N	0.25094	0.71	0.31970	N	0.60734	B	0.12013	0.005	B	0.15052	0.012	T	0.16719	-1.0393	10	0.33141	T	0.24	-26.7743	8.2399	0.31654	0.0:0.0891:0.0:0.9109	.	814	Q92922	SMRC1_HUMAN	R	814	ENSP00000254480:K814R	ENSP00000254480:K814R	K	-	2	0	SMARCC1	47652566	1.000000	0.71417	0.979000	0.43373	0.995000	0.86356	2.989000	0.49393	2.087000	0.62958	0.454000	0.30748	AAA	SMARCC1	-	NULL	ENSG00000173473		0.348	SMARCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMARCC1	HGNC	protein_coding	OTTHUMT00000257491.1	-	0.00	36	0	T			47677562	-1	tier1	-	no_errors	ENST00000254480	ensembl	human	known	74_37	missense	44.79	53	43	SNP	0.976	C
SMYD1	150572	genome.wustl.edu	37	2	88387421	88387421	+	Missense_Mutation	SNP	A	A	G			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr2:88387421A>G	ENST00000419482.2	+	3	440	c.355A>G	c.(355-357)Acc>Gcc	p.T119A	SMYD1_ENST00000468008.1_3'UTR|SMYD1_ENST00000444564.2_Missense_Mutation_p.T119A|SMYD1_ENST00000438570.1_Intron	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	119	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of myotube differentiation (GO:0010831)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						GAGAGAAGGCACCGGGCTCAC	0.627																																																	0													56.0	49.0	52.0					2																	88387421		2203	4300	6503	SO:0001583	missense	0			AF086123	CCDS33240.1	2p11.1	2011-07-01			ENSG00000115593	ENSG00000115593		"""Zinc fingers, MYND-type"", ""Chromatin-modifying enzymes / K-methyltransferases"""	20986	protein-coding gene	gene with protein product		606846				11923873	Standard	NM_198274		Approved	BOP, ZMYND22, KMT3D	uc002ssr.3	Q8NB12	OTTHUMG00000155045	ENST00000419482.2:c.355A>G	2.37:g.88387421A>G	ENSP00000393453:p.Thr119Ala		A0AV30|A6NE13	Missense_Mutation	SNP	pfam_SET_dom,pfam_Znf_MYND,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_MYND	p.T119A	ENST00000419482.2	37	c.355	CCDS33240.1	2	.	.	.	.	.	.	.	.	.	.	A	8.056	0.767154	0.15983	.	.	ENSG00000115593	ENST00000419482;ENST00000444564	T;T	0.16324	2.35;2.35	4.82	3.63	0.41609	SET domain (2);	0.190454	0.52532	D	0.000074	T	0.08358	0.0208	N	0.12182	0.205	0.80722	D	1	B	0.18013	0.025	B	0.22386	0.039	T	0.17623	-1.0363	10	0.09338	T	0.73	-12.7342	9.0971	0.36645	0.8403:0.0:0.1597:0.0	.	119	Q8NB12	SMYD1_HUMAN	A	119	ENSP00000393453:T119A;ENSP00000407888:T119A	ENSP00000393453:T119A	T	+	1	0	SMYD1	88168536	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	2.654000	0.46699	0.757000	0.33036	0.459000	0.35465	ACC	SMYD1	-	pfam_SET_dom,smart_SET_dom	ENSG00000115593		0.627	SMYD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMYD1	HGNC	protein_coding	OTTHUMT00000338229.2		0.00	53	0	A	XM_097915		88387421	+1			no_errors	ENST00000419482	ensembl	human	known	74_37	missense	8.00	45	4	SNP	1.000	G
SNAP47	116841	genome.wustl.edu	37	1	227935805	227935805	+	Missense_Mutation	SNP	C	C	T			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr1:227935805C>T	ENST00000366759.4	+	2	917	c.503C>T	c.(502-504)aCg>aTg	p.T168M	SNAP47_ENST00000366760.1_Intron|SNAP47-AS1_ENST00000413347.2_RNA|SNAP47_ENST00000315781.5_Missense_Mutation_p.T168M	NM_053052.3	NP_444280.2	Q5SQN1	SNP47_HUMAN	synaptosomal-associated protein, 47kDa	168	t-SNARE coiled-coil homology 1. {ECO:0000255|PROSITE-ProRule:PRU00202}.				long-term synaptic potentiation (GO:0060291)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)				endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17						GAGGAGCTGACGGGACTCATG	0.637																																																	0													39.0	39.0	39.0					1																	227935805		2203	4300	6503	SO:0001583	missense	0			AY090635	CCDS1562.1	1q42.13	2013-10-11	2008-10-27	2008-10-27	ENSG00000143740	ENSG00000143740			30669	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 142"""	C1orf142		16621800	Standard	NM_053052		Approved	SVAP1, SNAP-47	uc001hrf.2	Q5SQN1	OTTHUMG00000037697	ENST00000366759.4:c.503C>T	1.37:g.227935805C>T	ENSP00000355721:p.Thr168Met		B6EDE0|Q5HYB5|Q5TBZ3|Q8N558|Q8TB31|Q8TCW8|Q8WV46|Q96CQ3|Q96FE1|Q96I66|Q96NU3|Q9BT10|Q9BVB2	Missense_Mutation	SNP	pfscan_T_SNARE_dom	p.T168M	ENST00000366759.4	37	c.503	CCDS1562.1	1	.	.	.	.	.	.	.	.	.	.	C	4.911	0.169348	0.09339	.	.	ENSG00000143740	ENST00000366759;ENST00000315781	T;T	0.42900	0.96;0.96	4.12	2.21	0.28008	.	0.237089	0.41938	N	0.000783	T	0.22589	0.0545	L	0.40543	1.245	0.26894	N	0.96725	P;P	0.44006	0.824;0.824	B;B	0.28139	0.051;0.086	T	0.15350	-1.0440	10	0.35671	T	0.21	-8.6264	5.6445	0.17582	0.0:0.6433:0.0:0.3567	.	168;168	Q5SQN1;Q5SQN1-2	SNP47_HUMAN;.	M	168	ENSP00000355721:T168M;ENSP00000314157:T168M	ENSP00000314157:T168M	T	+	2	0	SNAP47	226002428	0.997000	0.39634	0.212000	0.23672	0.001000	0.01503	3.273000	0.51623	0.383000	0.24910	-0.229000	0.12294	ACG	SNAP47	-	NULL	ENSG00000143740		0.637	SNAP47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNAP47	HGNC	protein_coding	OTTHUMT00000091961.1	-	0.00	54	0	C	NM_053052		227935805	+1	tier1	-	no_errors	ENST00000366759	ensembl	human	known	74_37	missense	6.56	57	4	SNP	0.806	T
SNHG14	104472715	genome.wustl.edu	37	15	25328742	25328742	+	RNA	SNP	T	T	C			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr15:25328742T>C	ENST00000546682.1	+	0	320				SNORD116-15_ENST00000384445.1_RNA|SNORD116-16_ENST00000384533.1_RNA|SNORD116-19_ENST00000384729.1_RNA|SNHG14_ENST00000553108.1_RNA|SNHG14_ENST00000549804.2_RNA|SNORD116-17_ENST00000383929.1_RNA|SNORD116-18_ENST00000383961.1_RNA	NR_003361.1				small nucleolar RNA host gene 14 (non-protein coding)																		CATGGATCGATGATGACTTCC	0.423																																																	0													239.0	212.0	220.0					15																	25328742		876	1991	2867			0					15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25328742T>C				RNA	SNP	-	NULL	ENST00000546682.1	37	NULL		15																																																																																			SNORD116-17	-	-	ENSG00000206656		0.423	SNHG14-022	KNOWN	basic	antisense	SNORD116-17	HGNC	processed_transcript	OTTHUMT00000408281.1	-	0.00	106	0	T			25328742	+1	tier1	-	no_errors	ENST00000383929	ensembl	human	known	74_37	rna	40.00	81	54	SNP	0.994	C
SPATA5L1	79029	genome.wustl.edu	37	15	45713328	45713328	+	Missense_Mutation	SNP	C	C	A	rs143654467		TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr15:45713328C>A	ENST00000305560.6	+	8	2281	c.2182C>A	c.(2182-2184)Ccg>Acg	p.P728T	SPATA5L1_ENST00000533841.1_3'UTR	NM_024063.2	NP_076968.2	Q9BVQ7	SPA5L_HUMAN	spermatogenesis associated 5-like 1	728						cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.P728S(1)		kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14		Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07)		GACTGTAAAACCGTCGTTAAG	0.358																																																	1	Substitution - Missense(1)	skin(1)											73.0	75.0	74.0					15																	45713328		2198	4298	6496	SO:0001583	missense	0			AK023232	CCDS10123.1	15q15.1	2010-04-21			ENSG00000171763	ENSG00000171763		"""ATPases / AAA-type"""	28762	protein-coding gene	gene with protein product						12477932	Standard	NM_024063		Approved	MGC5347, FLJ12286	uc001zve.3	Q9BVQ7	OTTHUMG00000131425	ENST00000305560.6:c.2182C>A	15.37:g.45713328C>A	ENSP00000305494:p.Pro728Thr		C9JHR5|Q9H8W7|Q9HA41	Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.P728T	ENST00000305560.6	37	c.2182	CCDS10123.1	15	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.01|18.01	3.527163|3.527163	0.64860|0.64860	.|.	.|.	ENSG00000171763|ENSG00000171763	ENST00000531624|ENST00000305560	.|D	.|0.95205	.|-3.64	5.6|5.6	5.6|5.6	0.85130|0.85130	.|.	.|0.059984	.|0.64402	.|D	.|0.000002	D|D	0.96250|0.96250	0.8777|0.8777	L|L	0.55213|0.55213	1.73|1.73	0.80722|0.80722	D|D	1|1	.|D	.|0.67145	.|0.996	.|D	.|0.66351	.|0.943	D|D	0.96502|0.96502	0.9372|0.9372	5|10	.|0.72032	.|D	.|0.01	-29.4054|-29.4054	18.1745|18.1745	0.89757|0.89757	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|728	.|Q9BVQ7	.|SPA5L_HUMAN	K|T	232|728	.|ENSP00000305494:P728T	.|ENSP00000305494:P728T	N|P	+|+	3|1	2|0	SPATA5L1|SPATA5L1	43500620|43500620	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.374000|0.374000	0.29953|0.29953	5.907000|5.907000	0.69908|0.69908	2.632000|2.632000	0.89209|0.89209	0.561000|0.561000	0.74099|0.74099	AAC|CCG	SPATA5L1	-	superfamily_P-loop_NTPase	ENSG00000171763		0.358	SPATA5L1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	SPATA5L1	HGNC	protein_coding	OTTHUMT00000254218.1	-	0.00	37	0	C	NM_024063		45713328	+1	tier1	-	no_errors	ENST00000305560	ensembl	human	known	74_37	missense	73.77	16	45	SNP	1.000	A
SPEF2	79925	genome.wustl.edu	37	5	35641562	35641562	+	Missense_Mutation	SNP	C	C	A			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr5:35641562C>A	ENST00000356031.3	+	3	345	c.191C>A	c.(190-192)tCt>tAt	p.S64Y	SPEF2_ENST00000509059.1_Missense_Mutation_p.S64Y|SPEF2_ENST00000440995.2_Missense_Mutation_p.S64Y|SPEF2_ENST00000282469.6_Missense_Mutation_p.S64Y	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	64	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AATAATTTTTCTCGCTTGGAG	0.378																																																	0													79.0	83.0	82.0					5																	35641562		2203	4300	6503	SO:0001583	missense	0			AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"""cancer/testis antigen 122"""	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.191C>A	5.37:g.35641562C>A	ENSP00000348314:p.Ser64Tyr		Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Missense_Mutation	SNP	pfam_DUF1042,pfam_Adenylate_kin,pfam_HATC_dom_C,superfamily_P-loop_NTPase,superfamily_CH-domain,pfscan_CH-domain	p.S64Y	ENST00000356031.3	37	c.191	CCDS43309.1	5	.	.	.	.	.	.	.	.	.	.	C	27.3	4.818240	0.90790	.	.	ENSG00000152582	ENST00000282469;ENST00000356031;ENST00000509059;ENST00000510777;ENST00000440995	T;T;T;T;T	0.25085	1.82;1.82;1.82;1.82;1.82	5.93	5.93	0.95920	Calponin homology domain (1);	0.196339	0.44097	D	0.000483	T	0.52306	0.1726	M	0.62723	1.935	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.87578	0.998;0.994;0.974	T	0.47923	-0.9079	10	0.72032	D	0.01	.	20.3409	0.98764	0.0:1.0:0.0:0.0	.	64;64;64	D6REZ4;Q9C093;Q9C093-3	.;SPEF2_HUMAN;.	Y	64	ENSP00000282469:S64Y;ENSP00000348314:S64Y;ENSP00000421593:S64Y;ENSP00000426259:S64Y;ENSP00000412125:S64Y	ENSP00000282469:S64Y	S	+	2	0	SPEF2	35677319	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.706000	0.74649	2.814000	0.96858	0.655000	0.94253	TCT	SPEF2	-	pfam_DUF1042,superfamily_CH-domain,pfscan_CH-domain	ENSG00000152582		0.378	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SPEF2	HGNC	protein_coding	OTTHUMT00000367199.1	-	0.00	63	0	C	NM_144722		35641562	+1	tier1	-	no_errors	ENST00000356031	ensembl	human	known	74_37	missense	22.64	123	36	SNP	1.000	A
STAB1	23166	genome.wustl.edu	37	3	52556178	52556178	+	Missense_Mutation	SNP	C	C	T			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr3:52556178C>T	ENST00000321725.6	+	59	6473	c.6397C>T	c.(6397-6399)Cgc>Tgc	p.R2133C		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	2133	EGF-like 16. {ECO:0000255|PROSITE- ProRule:PRU00076, ECO:0000305}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CTGCCGGGCCCGCAACCCCTG	0.657																																																	0													37.0	44.0	41.0					3																	52556178		2201	4300	6501	SO:0001583	missense	0			AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"""MS-1 antigen"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1"", ""common lymphatic endothelial and vascular endothelial receptor-1"""	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.6397C>T	3.37:g.52556178C>T	ENSP00000312946:p.Arg2133Cys		A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP	pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,smart_EG-like_dom,smart_EGF_laminin,smart_FAS1_domain,smart_EGF-like_Ca-bd_dom,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link	p.R2133C	ENST00000321725.6	37	c.6397	CCDS33768.1	3	.	.	.	.	.	.	.	.	.	.	C	13.37	2.216057	0.39201	.	.	ENSG00000010327	ENST00000321725	D	0.85556	-2.0	5.63	4.75	0.60458	Epidermal growth factor-like, type 3 (1);	0.113858	0.49916	D	0.000125	D	0.90665	0.7072	M	0.76328	2.33	0.21020	N	0.999808	D;D	0.89917	0.996;1.0	P;D	0.67382	0.639;0.951	D	0.84204	0.0452	10	0.72032	D	0.01	.	11.581	0.50891	0.3242:0.6757:0.0:0.0	.	20;2133	B3KSK0;Q9NY15	.;STAB1_HUMAN	C	2133	ENSP00000312946:R2133C	ENSP00000312946:R2133C	R	+	1	0	STAB1	52531218	0.998000	0.40836	0.950000	0.38849	0.340000	0.28889	2.377000	0.44300	1.355000	0.45865	-0.335000	0.08231	CGC	STAB1	-	pfscan_EG-like_dom	ENSG00000010327		0.657	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAB1	HGNC	protein_coding	OTTHUMT00000351380.2	-	0.00	65	0	C	NM_015136		52556178	+1	tier1	-	no_errors	ENST00000321725	ensembl	human	known	74_37	missense	5.30	125	7	SNP	0.206	T
SYDE2	84144	genome.wustl.edu	37	1	85648574	85648574	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr1:85648574G>T	ENST00000341460.5	-	3	1800	c.1751C>A	c.(1750-1752)gCt>gAt	p.A584D		NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2 (C. elegans)	584					activation of Rho GTPase activity (GO:0032862)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		ATTCCTCTTAGCAGCGGTGGT	0.403																																																	0													136.0	130.0	132.0					1																	85648574		1871	4103	5974	SO:0001583	missense	0			AL834286	CCDS44169.1	1p22.3	2008-02-05		2005-08-09	ENSG00000097096	ENSG00000097096			25841	protein-coding gene	gene with protein product							Standard	NM_032184		Approved	FLJ13815	uc009wcm.3	Q5VT97	OTTHUMG00000009956	ENST00000341460.5:c.1751C>A	1.37:g.85648574G>T	ENSP00000340594:p.Ala584Asp		Q5VT96|Q8NDB8|Q9H8A6	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.A584D	ENST00000341460.5	37	c.1751	CCDS44169.1	1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.096614	0.76870	.	.	ENSG00000097096	ENST00000341460	T	0.09630	2.96	5.28	5.28	0.74379	.	0.107868	0.64402	D	0.000008	T	0.24509	0.0594	M	0.67953	2.075	0.58432	D	0.999997	P;D	0.76494	0.952;0.999	P;D	0.69479	0.731;0.964	T	0.01140	-1.1439	10	0.62326	D	0.03	.	18.9027	0.92449	0.0:0.0:1.0:0.0	.	584;584	Q5VT97;Q5VT97-2	SYDE2_HUMAN;.	D	584	ENSP00000340594:A584D	ENSP00000340594:A584D	A	-	2	0	SYDE2	85421162	1.000000	0.71417	0.997000	0.53966	0.984000	0.73092	9.026000	0.93700	2.478000	0.83669	0.650000	0.86243	GCT	SYDE2	-	NULL	ENSG00000097096		0.403	SYDE2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SYDE2	HGNC	protein_coding	OTTHUMT00000127989.2		0.00	40	0	G			85648574	-1			no_errors	ENST00000341460	ensembl	human	known	74_37	missense	5.45	52	3	SNP	1.000	T
TACC2	10579	genome.wustl.edu	37	10	123971221	123971221	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr10:123971221G>T	ENST00000369005.1	+	9	7621	c.7281G>T	c.(7279-7281)aaG>aaT	p.K2427N	TACC2_ENST00000369001.1_Missense_Mutation_p.K131N|TACC2_ENST00000515273.1_Missense_Mutation_p.K2431N|TACC2_ENST00000260733.3_Missense_Mutation_p.K505N|TACC2_ENST00000369000.1_Missense_Mutation_p.K131N|TACC2_ENST00000453444.2_Missense_Mutation_p.K2431N|TACC2_ENST00000369004.3_Missense_Mutation_p.K505N|TACC2_ENST00000334433.3_Missense_Mutation_p.K2427N|TACC2_ENST00000513429.1_Missense_Mutation_p.K573N|TACC2_ENST00000515603.1_Missense_Mutation_p.K2382N|TACC2_ENST00000368999.1_Missense_Mutation_p.K505N|TACC2_ENST00000360561.3_Missense_Mutation_p.K505N|TACC2_ENST00000358010.1_Missense_Mutation_p.K573N	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2427					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CGCCCCTAAAGACGTAAGTTC	0.577																																																	0													34.0	35.0	35.0					10																	123971221		2202	4299	6501	SO:0001583	missense	0			AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.7281G>T	10.37:g.123971221G>T	ENSP00000358001:p.Lys2427Asn		Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	pfam_TACC	p.K2427N	ENST00000369005.1	37	c.7281	CCDS7626.1	10	.	.	.	.	.	.	.	.	.	.	G	16.54	3.153241	0.57259	.	.	ENSG00000138162	ENST00000369005;ENST00000513429;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000358010;ENST00000453444;ENST00000340076;ENST00000369001;ENST00000369000;ENST00000360561;ENST00000368999;ENST00000369004;ENST00000260733;ENST00000514539;ENST00000505639;ENST00000496913;ENST00000508411	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.23950	3.83;3.39;3.86;3.84;3.83;3.39;3.86;1.97;2.01;3.25;3.37;3.37;3.26;2.88;1.88;2.27	4.75	4.75	0.60458	.	0.000000	0.38720	N	0.001582	T	0.36276	0.0961	L	0.46157	1.445	0.50313	D	0.999866	D;D;P;D;D;D;D;B;D;D	0.64830	0.973;0.994;0.627;0.994;0.994;0.966;0.966;0.384;0.966;0.994	P;P;B;P;P;P;P;P;P;P	0.62649	0.736;0.816;0.424;0.816;0.816;0.736;0.736;0.506;0.736;0.905	T	0.02917	-1.1094	10	0.23891	T	0.37	-22.7651	9.9732	0.41768	0.1581:0.0:0.8419:0.0	.	522;2431;505;2382;2431;505;505;131;573;2427	E9PGB3;E9PBC6;D6RAA5;E7EMZ9;B7ZMJ9;O95359-6;O95359-1;O95359-2;O95359-5;O95359	.;.;.;.;.;.;.;.;.;TACC2_HUMAN	N	2427;573;2431;2382;2427;573;2431;2417;131;131;505;505;505;505;522;155;166;7	ENSP00000358001:K2427N;ENSP00000425062:K573N;ENSP00000424467:K2431N;ENSP00000427618:K2382N;ENSP00000334280:K2427N;ENSP00000350701:K573N;ENSP00000395048:K2431N;ENSP00000357997:K131N;ENSP00000357996:K131N;ENSP00000353763:K505N;ENSP00000357995:K505N;ENSP00000422815:K505N;ENSP00000260733:K505N;ENSP00000420967:K522N;ENSP00000426303:K155N;ENSP00000422725:K166N	ENSP00000260733:K505N	K	+	3	2	TACC2	123961211	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	3.439000	0.52878	2.362000	0.80069	0.561000	0.74099	AAG	TACC2	-	NULL	ENSG00000138162		0.577	TACC2-001	KNOWN	basic|CCDS	protein_coding	TACC2	HGNC	protein_coding	OTTHUMT00000090004.1		0.00	69	0	G			123971221	+1			no_errors	ENST00000334433	ensembl	human	known	74_37	missense	5.00	76	4	SNP	1.000	T
TBC1D1	23216	genome.wustl.edu	37	4	38138900	38138900	+	Missense_Mutation	SNP	G	G	A	rs542095382		TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr4:38138900G>A	ENST00000261439.4	+	20	3806	c.3451G>A	c.(3451-3453)Gca>Aca	p.A1151T	TBC1D1_ENST00000407365.1_3'UTR|TBC1D1_ENST00000508802.1_Missense_Mutation_p.A1142T	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	1151					membrane organization (GO:0061024)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						GCGGCGGAGCGCAGAGCCCAG	0.657													G|||	1	0.000199681	0.0	0.0	5008	,	,		13971	0.001		0.0	False		,,,				2504	0.0																0													22.0	27.0	25.0					4																	38138900		2203	4298	6501	SO:0001583	missense	0			AB029031	CCDS33972.1, CCDS58897.1	4p14	2013-07-09			ENSG00000065882	ENSG00000065882			11578	protein-coding gene	gene with protein product		609850				10965142, 18258599	Standard	NM_015173		Approved	TBC, TBC1, KIAA1108	uc003gtb.3	Q86TI0	OTTHUMG00000150302	ENST00000261439.4:c.3451G>A	4.37:g.38138900G>A	ENSP00000261439:p.Ala1151Thr		B7Z3D9|E9PGH8|Q96K82|Q9UPP4	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,pfam_DUF3350,pfam_PTB/PI_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTB/PI_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTB/PI_dom,pfscan_Rab-GTPase-TBC_dom	p.A1151T	ENST00000261439.4	37	c.3451	CCDS33972.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.14|13.14	2.148219|2.148219	0.37923|0.37923	.|.	.|.	ENSG00000065882|ENSG00000065882	ENST00000508802;ENST00000261439;ENST00000454732|ENST00000510573	T;T|.	0.04758|.	3.56;4.0|.	4.75|4.75	2.11|2.11	0.27256|0.27256	.|.	0.503112|.	0.18225|.	N|.	0.147780|.	T|T	0.34542|0.34542	0.0901|0.0901	L|L	0.36672|0.36672	1.1|1.1	0.09310|0.09310	N|N	1|1	B;P;B|.	0.36483|.	0.0;0.555;0.033|.	B;B;B|.	0.23852|.	0.001;0.049;0.014|.	T|T	0.22138|0.22138	-1.0225|-1.0225	10|5	0.23891|.	T|.	0.37|.	-0.2644|-0.2644	8.2473|8.2473	0.31695|0.31695	0.2452:0.0:0.7548:0.0|0.2452:0.0:0.7548:0.0	.|.	1142;883;1151|.	E9PGH8;Q6PJJ8;Q86TI0|.	.;.;TBCD1_HUMAN|.	T|H	1142;1151;415|838	ENSP00000423651:A1142T;ENSP00000261439:A1151T|.	ENSP00000261439:A1151T|.	A|R	+|+	1|2	0|0	TBC1D1|TBC1D1	37815295|37815295	0.002000|0.002000	0.14202|0.14202	0.000000|0.000000	0.03702|0.03702	0.006000|0.006000	0.05464|0.05464	0.821000|0.821000	0.27338|0.27338	0.239000|0.239000	0.21243|0.21243	0.650000|0.650000	0.86243|0.86243	GCA|CGC	TBC1D1	-	NULL	ENSG00000065882		0.657	TBC1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D1	HGNC	protein_coding	OTTHUMT00000317443.2		0.00	29	0	G	NM_015173		38138900	+1			no_errors	ENST00000261439	ensembl	human	known	74_37	missense	9.68	28	3	SNP	0.000	A
TBC1D8	11138	genome.wustl.edu	37	2	101654015	101654015	+	Silent	SNP	G	G	A	rs540488034	byFrequency	TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr2:101654015G>A	ENST00000376840.4	-	8	1385	c.1386C>T	c.(1384-1386)agC>agT	p.S462S	TBC1D8_ENST00000409318.1_Silent_p.S477S			O95759	TBCD8_HUMAN	TBC1 domain family, member 8 (with GRAM domain)	462					blood circulation (GO:0008015)|positive regulation of cell proliferation (GO:0008284)	membrane (GO:0016020)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						CAGGGCTCTGGCTGCCTGACT	0.597													G|||	2	0.000399361	0.0	0.0	5008	,	,		16246	0.0		0.0	False		,,,				2504	0.002																0													70.0	77.0	75.0					2																	101654015		1972	4144	6116	SO:0001819	synonymous_variant	0			AB024057	CCDS46375.1	2q12.1	2011-11-30			ENSG00000204634	ENSG00000204634			17791	protein-coding gene	gene with protein product	"""BUB2-like protein 1"", ""vascular Rab-GAP/TBC-containing protein"""					10373574	Standard	NM_001102426		Approved	HBLP1, VRP, AD3	uc010fiv.3	O95759	OTTHUMG00000153040	ENST00000376840.4:c.1386C>T	2.37:g.101654015G>A			A6NDL4|A8K9W1|B9A6K4|Q53SQ4|Q9UQ32	Silent	SNP	pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.S477	ENST00000376840.4	37	c.1431	CCDS46375.1	2																																																																																			TBC1D8	-	NULL	ENSG00000204634		0.597	TBC1D8-011	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D8	HGNC	protein_coding	OTTHUMT00000376092.1		0.00	60	0	G	NM_007063		101654015	-1			no_errors	ENST00000409318	ensembl	human	known	74_37	silent	7.58	61	5	SNP	0.140	A
TBR1	10716	genome.wustl.edu	37	2	162280635	162280635	+	Missense_Mutation	SNP	A	A	G	rs558548201		TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr2:162280635A>G	ENST00000389554.3	+	6	2263	c.1946A>G	c.(1945-1947)gAg>gGg	p.E649G	AC009487.4_ENST00000437683.1_RNA|AC009487.4_ENST00000444164.1_RNA|TBR1_ENST00000410035.1_Missense_Mutation_p.E362G|AC009487.5_ENST00000505579.1_RNA	NM_006593.2	NP_006584.1	Q16650	TBR1_HUMAN	T-box, brain, 1	649					axon guidance (GO:0007411)|brain development (GO:0007420)|hindbrain development (GO:0030902)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of neuron projection development (GO:0010975)|specification of organ identity (GO:0010092)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						CCCGTGTCCGAGAGTTCGTCC	0.637																																																	0													21.0	25.0	23.0					2																	162280635		2203	4299	6502	SO:0001583	missense	0			U49250	CCDS33310.1	2q24.2	2011-06-13			ENSG00000136535	ENSG00000136535		"""T-boxes"""	11590	protein-coding gene	gene with protein product		604616				7619531	Standard	NM_006593		Approved		uc002ubw.1	Q16650	OTTHUMG00000153888	ENST00000389554.3:c.1946A>G	2.37:g.162280635A>G	ENSP00000374205:p.Glu649Gly		B0AZS4|B2R6G5|Q14DC5|Q53TH0|Q56A81	Missense_Mutation	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.E649G	ENST00000389554.3	37	c.1946	CCDS33310.1	2	.	.	.	.	.	.	.	.	.	.	A	12.76	2.036025	0.35893	.	.	ENSG00000136535	ENST00000389554;ENST00000539334;ENST00000410035	D;D	0.91180	-2.8;-2.03	4.22	4.22	0.49857	.	0.251085	0.39615	N	0.001308	T	0.80954	0.4723	N	0.17082	0.46	0.58432	D	0.999999	B	0.06786	0.001	B	0.12156	0.007	T	0.74979	-0.3479	10	0.31617	T	0.26	.	8.4886	0.33086	0.9119:0.0:0.0881:0.0	.	649	Q16650	TBR1_HUMAN	G	649;318;362	ENSP00000374205:E649G;ENSP00000387023:E362G	ENSP00000374205:E649G	E	+	2	0	TBR1	161988881	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	4.731000	0.62022	1.894000	0.54839	0.402000	0.26972	GAG	TBR1	-	NULL	ENSG00000136535		0.637	TBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBR1	HGNC	protein_coding	OTTHUMT00000332845.1	-	0.00	60	0	A	NM_006593		162280635	+1	tier1	-	no_errors	ENST00000389554	ensembl	human	known	74_37	missense	43.75	45	35	SNP	1.000	G
TCEB3CL2	100506888	genome.wustl.edu	37	18	44543316	44543316	+	Silent	SNP	G	G	A			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr18:44543316G>A	ENST00000591973.2	-	1	1291	c.1056C>T	c.(1054-1056)ctC>ctT	p.L352L	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron	NM_001242907.1	NP_001229836.1	A6NLF2	EA3L2_HUMAN	transcription elongation factor B polypeptide 3C-like 2	352	Activation domain. {ECO:0000250}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)										CCACGTCGCCGAGGGCGTCCG	0.662																																																	0													22.0	21.0	21.0					18																	44543316		315	1113	1428	SO:0001819	synonymous_variant	0				CCDS59316.1	18q21.1	2012-10-25			ENSG00000266996	ENSG00000274744			33511	protein-coding gene	gene with protein product							Standard	NM_001242907		Approved		uc021ujk.1	A6NLF2	OTTHUMG00000180382	ENST00000591973.2:c.1056C>T	18.37:g.44543316G>A				Silent	SNP	pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub	p.L352	ENST00000591973.2	37	c.1056	CCDS59316.1	18																																																																																			TCEB3CL2	-	pfam_RNA_pol_II_trans_fac_SIII_A	ENSG00000266996		0.662	TCEB3CL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCEB3CL2	HGNC	protein_coding	OTTHUMT00000451070.1	-	0.00	98	0	G	XM_929328		44543316	-1	tier1	-	no_errors	ENST00000591973	ensembl	human	known	74_37	silent	50.00	19	19	SNP	0.001	A
TEAD3	7005	genome.wustl.edu	37	6	35443840	35443840	+	Silent	SNP	G	G	T			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr6:35443840G>T	ENST00000402886.3	-	8	729	c.576C>A	c.(574-576)ggC>ggA	p.G192G	TEAD3_ENST00000338863.7_Silent_p.G252G			Q99594	TEAD3_HUMAN	TEA domain family member 3	252	Pro-rich.|Transcriptional activation. {ECO:0000255}.				female pregnancy (GO:0007565)|gene expression (GO:0010467)|hippo signaling (GO:0035329)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	10						GGTTCGTCTGGCCGATGTGCA	0.597																																																	0													38.0	38.0	38.0					6																	35443840		1933	4169	6102	SO:0001819	synonymous_variant	0			X94439	CCDS47414.1	6p21.2	2008-07-28			ENSG00000007866	ENSG00000007866			11716	protein-coding gene	gene with protein product		603170		TEAD5		9889009, 9148898	Standard	NM_003214		Approved	TEF-5, ETFR-1	uc003oku.4	Q99594	OTTHUMG00000014571	ENST00000402886.3:c.576C>A	6.37:g.35443840G>T			O95910|Q5BJG7|Q8N6Y4	Silent	SNP	pfam_TEA/ATTS,pirsf_TEF	p.G192	ENST00000402886.3	37	c.576		6																																																																																			TEAD3	-	pfam_TEA/ATTS,pirsf_TEF	ENSG00000007866		0.597	TEAD3-005	NOVEL	basic|appris_candidate_longest	protein_coding	TEAD3	HGNC	protein_coding	OTTHUMT00000316961.2		0.00	57	0	G			35443840	-1			no_errors	ENST00000402886	ensembl	human	novel	74_37	silent	6.33	74	5	SNP	1.000	T
TESK2	10420	genome.wustl.edu	37	1	45809610	45809610	+	3'UTR	DEL	A	A	-			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr1:45809610delA	ENST00000372086.3	-	0	3018				TOE1_ENST00000495703.1_3'UTR|TESK2_ENST00000486676.1_5'UTR|TESK2_ENST00000372084.1_3'UTR|TESK2_ENST00000341771.6_3'UTR|TOE1_ENST00000372090.5_3'UTR	NM_007170.2	NP_009101.2	Q96S53	TESK2_HUMAN	testis-specific kinase 2						actin cytoskeleton organization (GO:0030036)|focal adhesion assembly (GO:0048041)|protein phosphorylation (GO:0006468)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	32	Acute lymphoblastic leukemia(166;0.155)					AAAGTTTTACAAAAAAAAAAA	0.363																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AJ132545	CCDS41323.1	1p32	2010-04-27			ENSG00000070759	ENSG00000070759	2.7.12.1		11732	protein-coding gene	gene with protein product		604746				10512679	Standard	NM_007170		Approved		uc001cns.1	Q96S53	OTTHUMG00000007680	ENST00000372086.3:c.*902T>-	1.37:g.45809610delA			Q5T422|Q5T423|Q8N520|Q9Y3Q6	RNA	DEL	-	NULL	ENST00000372086.3	37	NULL	CCDS41323.1	1																																																																																			TESK2	-	-	ENSG00000070759		0.363	TESK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TESK2	HGNC	protein_coding	OTTHUMT00000020523.1		0.00	31	0	A	NM_007170		45809610	-1	tier1		no_errors	ENST00000486676	ensembl	human	known	74_37	rna	16.46	66	13	DEL	0.794	-
THADA	63892	genome.wustl.edu	37	2	43519252	43519252	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr2:43519252G>T	ENST00000405006.4	-	33	5279	c.4928C>A	c.(4927-4929)tCc>tAc	p.S1643Y	THADA_ENST00000405975.2_Missense_Mutation_p.S1643Y|THADA_ENST00000415080.2_Missense_Mutation_p.S1324Y|THADA_ENST00000330266.7_Intron	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1643										breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				CCTTTCATTGGAAGCAATATC	0.498																																																	0													49.0	55.0	53.0					2																	43519252		1952	4144	6096	SO:0001583	missense	0			AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.4928C>A	2.37:g.43519252G>T	ENSP00000385995:p.Ser1643Tyr		A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Missense_Mutation	SNP	pfam_DUF2428_death-receptor-like,superfamily_ARM-type_fold	p.S1643Y	ENST00000405006.4	37	c.4928	CCDS46268.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.9|20.9	4.069486|4.069486	0.76301|0.76301	.|.	.|.	ENSG00000115970|ENSG00000115970	ENST00000407351|ENST00000405975;ENST00000356975;ENST00000415080;ENST00000405006	.|T;T;T	.|0.15834	.|2.62;2.39;2.62	4.65|4.65	4.65|4.65	0.58169|0.58169	.|.	.|0.425306	.|0.21965	.|N	.|0.066522	T|T	0.30603|0.30603	0.0770|0.0770	L|L	0.34521|0.34521	1.04|1.04	0.32681|0.32681	N|N	0.515445|0.515445	.|D;D	.|0.71674	.|0.998;0.989	.|D;P	.|0.76071	.|0.987;0.726	T|T	0.24657|0.24657	-1.0154|-1.0154	5|10	.|0.54805	.|T	.|0.06	-6.9538|-6.9538	14.6551|14.6551	0.68828|0.68828	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1570;1643	.|B6ZDQ0;Q6YHU6	.|.;THADA_HUMAN	T|Y	883|1643;1570;1324;1643	.|ENSP00000386088:S1643Y;ENSP00000416048:S1324Y;ENSP00000385995:S1643Y	.|ENSP00000349464:S1570Y	P|S	-|-	1|2	0|0	THADA|THADA	43372756|43372756	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.969000|0.969000	0.65631|0.65631	4.225000|4.225000	0.58600|0.58600	2.421000|2.421000	0.82119|0.82119	0.644000|0.644000	0.83932|0.83932	CCA|TCC	THADA	-	superfamily_ARM-type_fold	ENSG00000115970		0.498	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	THADA	HGNC	protein_coding	OTTHUMT00000326070.3		0.00	23	0	G	NM_022065		43519252	-1			no_errors	ENST00000405006	ensembl	human	known	74_37	missense	6.56	57	4	SNP	1.000	T
TMEM131	23505	genome.wustl.edu	37	2	98377144	98377144	+	Missense_Mutation	SNP	C	C	A			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr2:98377144C>A	ENST00000186436.5	-	38	5248	c.5020G>T	c.(5020-5022)Ggc>Tgc	p.G1674C		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	1674						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						TTAGCAAAGCCATTCCCACCT	0.517																																																	0													99.0	103.0	102.0					2																	98377144		1990	4155	6145	SO:0001583	missense	0			AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568			30366	protein-coding gene	gene with protein product		615659				9039502, 10996388	Standard	NM_015348		Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.5020G>T	2.37:g.98377144C>A	ENSP00000186436:p.Gly1674Cys			Missense_Mutation	SNP	pfam_DUF3651_TMEM131	p.G1674C	ENST00000186436.5	37	c.5020	CCDS46368.1	2	.	.	.	.	.	.	.	.	.	.	C	25.9	4.683423	0.88542	.	.	ENSG00000075568	ENST00000186436	T	0.49720	0.77	5.39	5.39	0.77823	.	0.102233	0.64402	D	0.000002	T	0.61160	0.2325	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.62751	-0.6788	10	0.62326	D	0.03	-17.3266	19.5205	0.95183	0.0:1.0:0.0:0.0	.	1674;54	Q92545;Q0P631	TM131_HUMAN;.	C	1674	ENSP00000186436:G1674C	ENSP00000186436:G1674C	G	-	1	0	TMEM131	97743576	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.679000	0.61649	2.678000	0.91216	0.643000	0.83706	GGC	TMEM131	-	NULL	ENSG00000075568		0.517	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM131	HGNC	protein_coding	OTTHUMT00000329285.2		0.00	47	0	C	XM_371542		98377144	-1			no_errors	ENST00000186436	ensembl	human	known	74_37	missense	5.33	71	4	SNP	1.000	A
TMEM145	284339	genome.wustl.edu	37	19	42821921	42821921	+	Nonsense_Mutation	SNP	G	G	T			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr19:42821921G>T	ENST00000301204.3	+	12	1002	c.961G>T	c.(961-963)Gga>Tga	p.G321*	TMEM145_ENST00000598766.1_Nonsense_Mutation_p.G345*	NM_173633.2	NP_775904.2	Q8NBT3	TM145_HUMAN	transmembrane protein 145	321					G-protein coupled receptor signaling pathway (GO:0007186)|response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				CGGGCTCATTGGACTGCAGGT	0.577																																																	0													150.0	117.0	128.0					19																	42821921		2203	4300	6503	SO:0001587	stop_gained	0			AK075286	CCDS12603.1	19q13.2	2008-02-05				ENSG00000167619			26912	protein-coding gene	gene with protein product							Standard	NM_173633		Approved	FLJ90805	uc002otk.1	Q8NBT3		ENST00000301204.3:c.961G>T	19.37:g.42821921G>T	ENSP00000301204:p.Gly321*			Nonsense_Mutation	SNP	pfam_Intimal_thickness-rel_rcpt	p.G321*	ENST00000301204.3	37	c.961	CCDS12603.1	19	.	.	.	.	.	.	.	.	.	.	G	37	6.213653	0.97380	.	.	ENSG00000167619	ENST00000301204	.	.	.	4.45	4.45	0.53987	.	0.150496	0.41500	D	0.000867	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	-21.267	14.9514	0.71077	0.0:0.0:1.0:0.0	.	.	.	.	X	321	.	ENSP00000301204:G321X	G	+	1	0	TMEM145	47513761	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.079000	0.71291	2.198000	0.70561	0.591000	0.81541	GGA	TMEM145	-	pfam_Intimal_thickness-rel_rcpt	ENSG00000167619		0.577	TMEM145-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM145	HGNC	protein_coding	OTTHUMT00000463737.1		0.00	65	0	G	NM_173633		42821921	+1			no_errors	ENST00000301204	ensembl	human	known	74_37	nonsense	5.77	49	3	SNP	1.000	T
TMEM225	338661	genome.wustl.edu	37	11	123755245	123755245	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr11:123755245G>T	ENST00000375026.2	-	2	496	c.280C>A	c.(280-282)Caa>Aaa	p.Q94K		NM_001013743.1	NP_001013765.1	Q6GV28	TM225_HUMAN	transmembrane protein 225	94					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)		p.Q94E(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						TATTTATTTTGAGGAATCAGA	0.428																																																	1	Substitution - Missense(1)	lung(1)											112.0	118.0	116.0					11																	123755245		2202	4299	6501	SO:0001583	missense	0			AY634366	CCDS31697.1	11q24.1	2014-06-13			ENSG00000204300	ENSG00000204300			32390	protein-coding gene	gene with protein product	"""PMP22 claudin domain containing"", ""protein phosphatase 1, regulatory subunit 154"""						Standard	XM_006718832		Approved	PMP22CD, PPP1R154	uc001pzi.3	Q6GV28	OTTHUMG00000165959	ENST00000375026.2:c.280C>A	11.37:g.123755245G>T	ENSP00000364166:p.Gln94Lys			Missense_Mutation	SNP	NULL	p.Q94K	ENST00000375026.2	37	c.280	CCDS31697.1	11	.	.	.	.	.	.	.	.	.	.	G	6.464	0.453752	0.12283	.	.	ENSG00000204300	ENST00000375026;ENST00000528595	T;T	0.67698	-0.28;-0.28	5.17	-0.403	0.12400	.	0.453729	0.18966	N	0.126243	T	0.58047	0.2095	L	0.29908	0.895	0.09310	N	0.999998	B	0.31705	0.336	B	0.42214	0.38	T	0.57785	-0.7751	10	0.66056	D	0.02	-3.3319	10.2017	0.43087	0.0809:0.5489:0.3701:0.0	.	94	Q6GV28	TM225_HUMAN	K	94;44	ENSP00000364166:Q94K;ENSP00000431282:Q44K	ENSP00000364166:Q94K	Q	-	1	0	TMEM225	123260455	0.297000	0.24408	0.658000	0.29665	0.025000	0.11179	0.265000	0.18515	0.056000	0.16144	-0.819000	0.03115	CAA	TMEM225	-	NULL	ENSG00000204300		0.428	TMEM225-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM225	HGNC	protein_coding	OTTHUMT00000387260.1		0.00	43	0	G	NM_001013743		123755245	-1			no_errors	ENST00000375026	ensembl	human	known	74_37	missense	8.11	34	3	SNP	0.155	T
TMEM55B	90809	genome.wustl.edu	37	14	20927414	20927414	+	Missense_Mutation	SNP	C	C	T			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr14:20927414C>T	ENST00000250489.4	-	6	927	c.641G>A	c.(640-642)tGc>tAc	p.C214Y	TMEM55B_ENST00000554028.1_Missense_Mutation_p.C47Y|TMEM55B_ENST00000398020.4_Missense_Mutation_p.C221Y			Q86T03	TM55B_HUMAN	transmembrane protein 55B	214						endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)	p.C214F(2)		endometrium(3)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)	11	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193)		CAAGAAGCAGCAGATACATCT	0.498																																																	2	Substitution - Missense(2)	endometrium(1)|kidney(1)											163.0	154.0	157.0					14																	20927414		2203	4300	6503	SO:0001583	missense	0			BC002867	CCDS9551.1, CCDS41911.1	14q11.1	2002-11-27	2005-07-18	2005-07-18	ENSG00000165782	ENSG00000165782			19299	protein-coding gene	gene with protein product		609865	"""chromosome 14 open reading frame 9"""	C14orf9			Standard	NM_144568		Approved	MGC26684	uc001vxk.2	Q86T03	OTTHUMG00000029545	ENST00000250489.4:c.641G>A	14.37:g.20927414C>T	ENSP00000250489:p.Cys214Tyr		B2RA35|Q86U09|Q8WUC0|Q9BU67|Q9NSU8	Missense_Mutation	SNP	pfam_Transmembrane_protein_55A/B	p.C221Y	ENST00000250489.4	37	c.662	CCDS9551.1	14	.	.	.	.	.	.	.	.	.	.	C	14.27	2.486037	0.44147	.	.	ENSG00000165782	ENST00000250489;ENST00000398020;ENST00000554028	.	.	.	5.06	5.06	0.68205	.	0.053239	0.85682	D	0.000000	T	0.48150	0.1484	L	0.29908	0.895	0.40171	D	0.97717	B;B	0.29862	0.259;0.218	B;B	0.28991	0.097;0.059	T	0.49072	-0.8977	9	0.41790	T	0.15	-4.8273	17.2077	0.86922	0.0:1.0:0.0:0.0	.	214;221	Q86T03;Q86T03-2	TM55B_HUMAN;.	Y	214;221;47	.	ENSP00000250489:C214Y	C	-	2	0	TMEM55B	19997254	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	1.708000	0.37899	2.351000	0.79841	0.655000	0.94253	TGC	TMEM55B	-	pfam_Transmembrane_protein_55A/B	ENSG00000165782		0.498	TMEM55B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TMEM55B	HGNC	protein_coding	OTTHUMT00000073643.3		0.00	37	0	C	NM_144568		20927414	-1			no_errors	ENST00000398020	ensembl	human	known	74_37	missense	6.38	44	3	SNP	1.000	T
TMEM97	27346	genome.wustl.edu	37	17	26653806	26653807	+	Frame_Shift_Ins	INS	-	-	A			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr17:26653806_26653807insA	ENST00000226230.6	+	3	663_664	c.518_519insA	c.(517-522)agaaaafs	p.RK173fs	TMEM97_ENST00000583381.1_Frame_Shift_Ins_p.RK66fs|TMEM97_ENST00000336687.6_Frame_Shift_Ins_p.RK66fs	NM_014573.2	NP_055388.2	Q5BJF2	TMM97_HUMAN	transmembrane protein 97	173					cholesterol homeostasis (GO:0042632)|regulation of cell growth (GO:0001558)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)		p.K176fs?(1)		endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	6	all_lung(13;0.000238)|Lung NSC(42;0.000789)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		GAAGAGAAAAGAAAAAAAAAAT	0.441																																																	1	Deletion - Frameshift(1)	lung(1)																																								SO:0001589	frameshift_variant	0			BC091504	CCDS11226.2	17q11.2	2014-01-28			ENSG00000109084	ENSG00000109084			28106	protein-coding gene	gene with protein product		612912				7694637, 15375745	Standard	NM_014573		Approved	MAC30	uc002hat.3	Q5BJF2	OTTHUMG00000132497	ENST00000226230.6:c.528dupA	17.37:g.26653816_26653816dupA	ENSP00000226230:p.Arg173fs		B4DS02|Q07823	Frame_Shift_Ins	INS	pfam_Transmembrane_6/97,pirsf_Transmembrane_6/97	p.K177fs	ENST00000226230.6	37	c.518_519	CCDS11226.2	17																																																																																			TMEM97	-	NULL	ENSG00000109084		0.441	TMEM97-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM97	HGNC	protein_coding	OTTHUMT00000255675.2		0.00	15	0	0	NM_014573		26653807	+1			no_errors	ENST00000226230	ensembl	human	known	74_37	frame_shift_ins	7.69	72	6	INS	1.000:1.000	A
TNFRSF11A	8792	genome.wustl.edu	37	18	60035976	60035976	+	Missense_Mutation	SNP	T	T	C			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr18:60035976T>C	ENST00000586569.1	+	9	864	c.826T>C	c.(826-828)Ttt>Ctt	p.F276L	TNFRSF11A_ENST00000269485.7_Intron	NM_001270949.1|NM_003839.3	NP_001257878.1|NP_003830.1	Q9Y6Q6	TNR11_HUMAN	tumor necrosis factor receptor superfamily, member 11a, NFKB activator	276					adaptive immune response (GO:0002250)|cell-cell signaling (GO:0007267)|circadian temperature homeostasis (GO:0060086)|lymph node development (GO:0048535)|mammary gland alveolus development (GO:0060749)|monocyte chemotaxis (GO:0002548)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling (GO:0071848)|positive regulation of fever generation by positive regulation of prostaglandin secretion (GO:0071812)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|response to cytokine (GO:0034097)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to radiation (GO:0009314)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|TNFSF11-mediated signaling pathway (GO:0071847)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|tumor necrosis factor-activated receptor activity (GO:0005031)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29		Colorectal(73;0.188)				CACGGCAAACTTTGGTCAGCA	0.468																																																	0													82.0	75.0	78.0					18																	60035976		2203	4300	6503	SO:0001583	missense	0			AF018253	CCDS11980.1, CCDS59324.1, CCDS74227.1, CCDS74228.1	18q22.1	2014-09-17			ENSG00000141655	ENSG00000141655		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11908	protein-coding gene	gene with protein product		603499	"""tumor necrosis factor receptor superfamily, member 11a, activator of NFKB"", ""Paget disease of bone 2"", ""loss of heterozygosity, 18, chromosomal region 1"""	PDB2, LOH18CR1		9367155, 10615125	Standard	NM_001270951		Approved	RANK, CD265, FEO	uc002lin.4	Q9Y6Q6	OTTHUMG00000132779	ENST00000586569.1:c.826T>C	18.37:g.60035976T>C	ENSP00000465500:p.Phe276Leu		I4EC36|I4EC38|I4EC39|I7JE63|N0GVH0|Q59EP9	Missense_Mutation	SNP	pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_11A,prints_TNFR_11	p.F276L	ENST00000586569.1	37	c.826	CCDS11980.1	18	.	.	.	.	.	.	.	.	.	.	T	13.77	2.337546	0.41398	.	.	ENSG00000141655	ENST00000269485	.	.	.	5.21	-4.04	0.04010	.	1.850620	0.02429	N	0.083336	T	0.24122	0.0584	N	0.22421	0.69	0.09310	N	1	B	0.16396	0.017	B	0.11329	0.006	T	0.06643	-1.0815	8	.	.	.	-1.2242	2.4144	0.04432	0.1203:0.2351:0.4099:0.2348	.	276	Q9Y6Q6	TNR11_HUMAN	L	276	.	.	F	+	1	0	TNFRSF11A	58186956	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.664000	0.05292	-0.465000	0.06953	0.455000	0.32223	TTT	TNFRSF11A	-	NULL	ENSG00000141655		0.468	TNFRSF11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFRSF11A	HGNC	protein_coding	OTTHUMT00000256186.2	-	0.00	19	0	T			60035976	+1	tier1	-	no_errors	ENST00000586569	ensembl	human	known	74_37	missense	19.05	16	4	SNP	0.000	C
TNFSF15	9966	genome.wustl.edu	37	9	117568161	117568161	+	Silent	SNP	G	G	T			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr9:117568161G>T	ENST00000374045.4	-	1	245	c.132C>A	c.(130-132)ctC>ctA	p.L44L		NM_001204344.1|NM_005118.3	NP_001191273.1|NP_005109.2	O95150	TNF15_HUMAN	tumor necrosis factor (ligand) superfamily, member 15	44					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|cytokine metabolic process (GO:0042107)|immune response (GO:0006955)|positive regulation of cytokine secretion (GO:0050715)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11						CAAGGAAGGGGAGCAACACCA	0.627																																																	0													64.0	57.0	59.0					9																	117568161		2203	4300	6503	SO:0001819	synonymous_variant	0			AF039390	CCDS6809.1	9q32	2008-07-21			ENSG00000181634	ENSG00000181634		"""Tumor necrosis factor (ligand) superfamily"""	11931	protein-coding gene	gene with protein product	"""vascular endothelial cell growth inhibitor"", ""TNF superfamily ligand TL1A"", ""TNF ligand-related molecule 1"", ""vascular endothelial growth inhibitor-192A"""	604052				9434163	Standard	NM_005118		Approved	TL1, VEGI, TL1A, VEGI192A, MGC129934, MGC129935	uc004bjh.3	O95150	OTTHUMG00000021011	ENST00000374045.4:c.132C>A	9.37:g.117568161G>T			Q3SX69|Q5VJK8|Q5VWH1|Q8NFE9	Silent	SNP	pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pfscan_TNF_dom,prints_TNF	p.L44	ENST00000374045.4	37	c.132	CCDS6809.1	9																																																																																			TNFSF15	-	NULL	ENSG00000181634		0.627	TNFSF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFSF15	HGNC	protein_coding	OTTHUMT00000055424.2		0.00	58	0	G	NM_005118		117568161	-1			no_errors	ENST00000374045	ensembl	human	known	74_37	silent	6.56	57	4	SNP	0.001	T
TP53	7157	genome.wustl.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr17:7577121G>A	ENST00000269305.4	-	8	1006	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000420246.2_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	533	Substitution - Missense(506)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)|Complex(2)	central_nervous_system(117)|large_intestine(108)|ovary(32)|haematopoietic_and_lymphoid_tissue(31)|upper_aerodigestive_tract(30)|stomach(25)|urinary_tract(23)|lung(21)|breast(21)|liver(20)|endometrium(17)|oesophagus(17)|bone(16)|pancreas(15)|prostate(8)|skin(7)|cervix(6)|biliary_tract(6)|kidney(3)|thyroid(3)|vulva(2)|genital_tract(1)|penis(1)|adrenal_gland(1)|salivary_gland(1)|small_intestine(1)	GRCh37	CM010471|CM010473|CM951233	TP53	M	rs121913343						65.0	56.0	59.0					17																	7577121		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.817C>T	17.37:g.7577121G>A	ENSP00000269305:p.Arg273Cys		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R273C	ENST00000269305.4	37	c.817	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400216	0.62177	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.92	3.95	0.45737	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99851	0.9931	M	0.90759	3.145	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.999;0.996	D	0.96877	0.9643	10	0.87932	D	0	-11.9995	11.2235	0.48869	0.0895:0.0:0.9105:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	C	273;273;273;273;273;262;141	ENSP00000352610:R273C;ENSP00000269305:R273C;ENSP00000398846:R273C;ENSP00000391127:R273C;ENSP00000391478:R273C;ENSP00000425104:R141C	ENSP00000269305:R273C	R	-	1	0	TP53	7517846	1.000000	0.71417	0.066000	0.19879	0.723000	0.41478	4.540000	0.60664	1.299000	0.44798	0.462000	0.41574	CGT	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0.00	29	0	G	NM_000546		7577121	-1	tier1	rs121913343	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	82.76	5	24	SNP	0.830	A
CROT	54677	genome.wustl.edu	37	7	86974668	86974668	+	5'Flank	SNP	G	G	T			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr7:86974668G>T	ENST00000331536.3	+	0	0				TP53TG1_ENST00000359941.5_lincRNA|CROT_ENST00000419147.2_5'Flank|CROT_ENST00000442291.1_5'Flank|CROT_ENST00000412227.2_5'Flank	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN	carnitine O-octanoyltransferase						carnitine metabolic process (GO:0009437)|cellular lipid metabolic process (GO:0044255)|coenzyme A metabolic process (GO:0015936)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|fatty acid metabolic process (GO:0006631)|fatty acid transport (GO:0015908)|generation of precursor metabolites and energy (GO:0006091)|medium-chain fatty acid metabolic process (GO:0051791)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carnitine O-octanoyltransferase activity (GO:0008458)|receptor binding (GO:0005102)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	TAGATCCTGGGTCAGGCGCCA	0.627																																																	0																																										SO:0001631	upstream_gene_variant	0				CCDS5604.1, CCDS47634.1, CCDS59062.1	7q21.1	2010-02-26			ENSG00000005469	ENSG00000005469			2366	protein-coding gene	gene with protein product		606090				10486279	Standard	NM_021151		Approved	COT	uc003uit.3	Q9UKG9	OTTHUMG00000023653		7.37:g.86974668G>T	Exception_encountered		A4D1D6|E7EQF2|Q86V17|Q8IUW9|Q9Y6I2	RNA	SNP	-	NULL	ENST00000331536.3	37	NULL	CCDS5604.1	7																																																																																			TP53TG1	-	-	ENSG00000182165		0.627	CROT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53TG1	HGNC	protein_coding	OTTHUMT00000253485.1	-	0.00	73	0	G	NM_021151		86974668	-1	tier1	-	no_errors	ENST00000359941	ensembl	human	known	74_37	rna	10.00	72	8	SNP	0.000	T
TPTE	7179	genome.wustl.edu	37	21	10906741	10906741	+	3'UTR	SNP	T	T	G	rs71336114|rs3742162	byFrequency	TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr21:10906741T>G	ENST00000361285.4	-	0	2149				TPTE_ENST00000298232.7_3'UTR|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_3'UTR	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology						peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GACACTGACATTTtatctata	0.269																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.*164A>C	21.37:g.10906741T>G			B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	RNA	SNP	-	NULL	ENST00000361285.4	37	NULL	CCDS13560.2	21																																																																																			TPTE	-	-	ENSG00000166157		0.269	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TPTE	HGNC	protein_coding	OTTHUMT00000157413.1	-	0.00	16	0	T			10906741	-1	tier1	rs3742162	no_errors	ENST00000415664	ensembl	human	known	74_37	rna	52.50	19	21	SNP	0.085	G
TREX1	11277	genome.wustl.edu	37	3	48508479	48508479	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr3:48508479G>T	ENST00000422277.2	+	1	1251	c.590G>T	c.(589-591)gGc>gTc	p.G197V	SHISA5_ENST00000465449.1_5'Flank|TREX1_ENST00000492235.1_3'UTR|TREX1_ENST00000436480.2_Missense_Mutation_p.G142V|TREX1_ENST00000296443.9_Missense_Mutation_p.G142V|TREX1_ENST00000444177.1_Missense_Mutation_p.G132V|TREX1_ENST00000433541.1_Missense_Mutation_p.G3V|TREX1_ENST00000456089.1_Missense_Mutation_p.G3V	NM_016381.4	NP_057465.1	Q9NSU2	TREX1_HUMAN	three prime repair exonuclease 1	197					cell death (GO:0008219)|cellular response to interferon-beta (GO:0035458)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|innate immune response (GO:0045087)|mismatch repair (GO:0006298)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	endoplasmic reticulum membrane (GO:0005789)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|3'-5'-exodeoxyribonuclease activity (GO:0008296)|adenyl deoxyribonucleotide binding (GO:0032558)|double-stranded DNA binding (GO:0003690)|exodeoxyribonuclease III activity (GO:0008853)|metal ion binding (GO:0046872)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein homodimerization activity (GO:0042803)|single-stranded DNA binding (GO:0003697)			breast(1)|kidney(1)|large_intestine(1)|lung(3)|skin(3)	9				BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GCTATGCTGGGCCTCACCAGT	0.632																																																	0													74.0	71.0	72.0					3																	48508479		2203	4300	6503	SO:0001583	missense	0			AF151105	CCDS2769.1, CCDS59451.1	3p21.31	2014-09-17			ENSG00000213689	ENSG00000213689			12269	protein-coding gene	gene with protein product		606609	"""Aicardi-Goutieres syndrome 1"""	AGS1		10391904, 10393201, 16845398	Standard	NM_033629		Approved	DRN3	uc010hka.4	Q9NSU2	OTTHUMG00000156205	ENST00000422277.2:c.590G>T	3.37:g.48508479G>T	ENSP00000390478:p.Gly197Val		B2RCN9|Q8TEU2|Q9BPW1|Q9Y4X2	Missense_Mutation	SNP	superfamily_RNaseH-like_dom,smart_Exonuclease	p.G197V	ENST00000422277.2	37	c.590	CCDS43086.1	3	.	.	.	.	.	.	.	.	.	.	G	18.61	3.661896	0.67700	.	.	ENSG00000213689	ENST00000296443;ENST00000433541;ENST00000436480;ENST00000422277;ENST00000444177;ENST00000456089	D;D;D;D;D;D	0.96685	-4.09;-4.09;-4.09;-4.09;-4.09;-4.09	4.99	4.99	0.66335	Ribonuclease H-like (1);	0.391980	0.20912	U	0.083450	D	0.97832	0.9288	M	0.80183	2.485	0.47621	D	0.999472	D	0.67145	0.996	D	0.65323	0.934	D	0.98660	1.0683	10	0.87932	D	0	.	15.7784	0.78242	0.0:0.0:1.0:0.0	.	197	Q9NSU2	TREX1_HUMAN	V	142;3;142;197;132;3	ENSP00000296443:G142V;ENSP00000412404:G3V;ENSP00000392569:G142V;ENSP00000390478:G197V;ENSP00000415972:G132V;ENSP00000411331:G3V	ENSP00000296443:G142V	G	+	2	0	TREX1	48483483	1.000000	0.71417	0.946000	0.38457	0.953000	0.61014	3.610000	0.54125	2.301000	0.77427	0.655000	0.94253	GGC	TREX1	-	superfamily_RNaseH-like_dom,smart_Exonuclease	ENSG00000213689		0.632	TREX1-201	KNOWN	basic|CCDS	protein_coding	TREX1	HGNC	protein_coding			0.00	16	0	G	NM_016381		48508479	+1			no_errors	ENST00000422277	ensembl	human	known	74_37	missense	10.81	33	4	SNP	0.989	T
TRIM49B	283116	genome.wustl.edu	37	11	49059149	49059149	+	Missense_Mutation	SNP	A	A	C			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr11:49059149A>C	ENST00000332682.7	+	7	1007	c.979A>C	c.(979-981)Agt>Cgt	p.S327R		NM_001206626.1	NP_001193555.1	A6NDI0	TR49B_HUMAN	tripartite motif containing 49B	327	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			lung(8)	8						AACACCTAGAAGTTTTCTTGC	0.428																																																	0																																										SO:0001583	missense	0				CCDS55762.1	11p11.12	2014-02-17			ENSG00000182053	ENSG00000182053		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	42955	protein-coding gene	gene with protein product							Standard	NM_001206626		Approved		uc021qix.1	A6NDI0		ENST00000332682.7:c.979A>C	11.37:g.49059149A>C	ENSP00000330216:p.Ser327Arg			Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.S327R	ENST00000332682.7	37	c.979	CCDS55762.1	11	.	.	.	.	.	.	.	.	.	.	A	0.447	-0.895743	0.02472	.	.	ENSG00000182053	ENST00000332682	T	0.08546	3.08	0.407	-0.813	0.10850	.	.	.	.	.	T	0.06600	0.0169	L	0.41492	1.28	0.09310	N	1	.	.	.	.	.	.	T	0.40831	-0.9542	6	0.24483	T	0.36	.	.	.	.	.	.	.	.	R	327	ENSP00000330216:S327R	ENSP00000330216:S327R	S	+	1	0	AC084851.1	49015725	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-2.260000	0.01177	-1.003000	0.03425	-1.496000	0.00964	AGT	TRIM49B	-	superfamily_ConA-like_lec_gl_sf,pfscan_B30.2/SPRY,prints_Butyrophylin	ENSG00000182053		0.428	TRIM49B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM49B	HGNC	protein_coding		-	0.00	117	0	A			49059149	+1	tier1	-	no_errors	ENST00000332682	ensembl	human	known	74_37	missense	35.98	169	95	SNP	0.000	C
TRPM3	80036	genome.wustl.edu	37	9	73152282	73152282	+	Missense_Mutation	SNP	C	C	A			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr9:73152282C>A	ENST00000377111.2	-	25	3954	c.3711G>T	c.(3709-3711)gaG>gaT	p.E1237D	TRPM3_ENST00000396285.1_Missense_Mutation_p.E1096D|TRPM3_ENST00000377105.1_Missense_Mutation_p.E1096D|TRPM3_ENST00000408909.2_Missense_Mutation_p.E1096D|TRPM3_ENST00000360823.2_Missense_Mutation_p.E1099D|TRPM3_ENST00000357533.2_Missense_Mutation_p.E1241D|TRPM3_ENST00000396280.5_Missense_Mutation_p.E1086D|TRPM3_ENST00000423814.3_Missense_Mutation_p.E1264D|TRPM3_ENST00000396292.4_Missense_Mutation_p.E1109D|TRPM3_ENST00000358082.3_Missense_Mutation_p.E1099D|TRPM3_ENST00000377110.3_Missense_Mutation_p.E1237D|TRPM3_ENST00000377106.1_Missense_Mutation_p.E1109D	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1262					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						AGTGCTCTCTCTCGTTGACTT	0.602																																																	0													39.0	32.0	34.0					9																	73152282		2203	4300	6503	SO:0001583	missense	0			AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17992	protein-coding gene	gene with protein product	"""melastatin 2"""	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.3711G>T	9.37:g.73152282C>A	ENSP00000366315:p.Glu1237Asp		A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	pfam_Ion_trans_dom	p.E1264D	ENST00000377111.2	37	c.3792		9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.29|15.29	2.788319|2.788319	0.49997|0.49997	.|.	.|.	ENSG00000083067|ENSG00000083067	ENST00000377111;ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814|ENST00000396280	T;T;T;T;T;T;T;T;T;T;T|.	0.49139|.	0.79;0.79;0.79;0.79;0.79;0.79;0.79;0.79;0.79;0.79;0.79|.	6.17|6.17	3.38|3.38	0.38709|0.38709	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|.	0.66076|.	0.2753|.	M|M	0.73372|0.73372	2.23|2.23	0.37835|0.37835	D|D	0.928861|0.928861	B;B;D;B;B;D;B;P|.	0.65815|.	0.264;0.022;0.995;0.172;0.172;0.985;0.066;0.955|.	B;B;D;B;B;P;B;P|.	0.66196|.	0.263;0.045;0.942;0.134;0.05;0.825;0.261;0.752|.	T|.	0.70575|.	-0.4834|.	10|.	0.30078|0.56958	T|D	0.28|0.05	-28.5543|-28.5543	10.078|10.078	0.42373|0.42373	0.0:0.7384:0.0:0.2616|0.0:0.7384:0.0:0.2616	.|.	1237;1237;1227;1241;1099;1096;1209;1096|.	Q9HCF6-2;Q9HCF6-10;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1;Q9HCF6-8;A2A3F3|.	.;.;.;.;.;.;.;.|.	D|X	1237;1237;1109;1099;1096;1241;1096;1096;1109;1099;1264|1086	ENSP00000366315:E1237D;ENSP00000366314:E1237D;ENSP00000366310:E1109D;ENSP00000354066:E1099D;ENSP00000366309:E1096D;ENSP00000350140:E1241D;ENSP00000386127:E1096D;ENSP00000379581:E1096D;ENSP00000379587:E1109D;ENSP00000350791:E1099D;ENSP00000389542:E1264D|.	ENSP00000350140:E1241D|ENSP00000379576:E1086X	E|E	-|-	3|1	2|0	TRPM3|TRPM3	72342102|72342102	0.485000|0.485000	0.25972|0.25972	0.990000|0.990000	0.47175|0.47175	0.997000|0.997000	0.91878|0.91878	0.080000|0.080000	0.14802|0.14802	0.948000|0.948000	0.37687|0.37687	0.655000|0.655000	0.94253|0.94253	GAG|GAG	TRPM3	-	NULL	ENSG00000083067		0.602	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	TRPM3	HGNC	protein_coding	OTTHUMT00000214157.5		0.00	60	0	C	NM_206945		73152282	-1			no_errors	ENST00000423814	ensembl	human	known	74_37	missense	5.26	54	3	SNP	1.000	A
TTC37	9652	genome.wustl.edu	37	5	94820496	94820496	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr5:94820496G>T	ENST00000358746.2	-	38	4283	c.3985C>A	c.(3985-3987)Ctc>Atc	p.L1329I		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	1329						cytoplasm (GO:0005737)|nucleus (GO:0005634)|Ski complex (GO:0055087)|transcriptionally active chromatin (GO:0035327)				breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						GCTTGTGAGAGAGACCACTTT	0.348																																																	0													130.0	130.0	130.0					5																	94820496		2202	4300	6502	SO:0001583	missense	0			AB002370	CCDS4072.1	5q15	2014-09-17	2008-06-11	2008-06-11	ENSG00000198677	ENSG00000198677		"""Tetratricopeptide (TTC) repeat domain containing"""	23639	protein-coding gene	gene with protein product		614589	"""KIAA0372"""	KIAA0372		9205841	Standard	NM_014639		Approved		uc003klb.3	Q6PGP7	OTTHUMG00000121165	ENST00000358746.2:c.3985C>A	5.37:g.94820496G>T	ENSP00000351596:p.Leu1329Ile		O15077|Q6PJI3	Missense_Mutation	SNP	pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.L1329I	ENST00000358746.2	37	c.3985	CCDS4072.1	5	.	.	.	.	.	.	.	.	.	.	G	14.92	2.680832	0.47886	.	.	ENSG00000198677	ENST00000358746	T	0.80566	-1.39	5.86	4.05	0.47172	.	0.063176	0.64402	D	0.000006	T	0.66577	0.2803	L	0.34521	1.04	0.32745	N	0.507143	P	0.38300	0.626	B	0.36186	0.219	T	0.66984	-0.5785	10	0.20046	T	0.44	.	7.3825	0.26864	0.1458:0.1391:0.715:0.0	.	1329	Q6PGP7	TTC37_HUMAN	I	1329	ENSP00000351596:L1329I	ENSP00000351596:L1329I	L	-	1	0	TTC37	94846252	1.000000	0.71417	0.926000	0.36857	0.814000	0.46013	3.530000	0.53539	0.784000	0.33661	0.650000	0.86243	CTC	TTC37	-	NULL	ENSG00000198677		0.348	TTC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC37	HGNC	protein_coding	OTTHUMT00000241651.1	-	0.00	39	0	G	NM_014639		94820496	-1	tier1	-	no_errors	ENST00000358746	ensembl	human	known	74_37	missense	8.89	41	4	SNP	0.976	T
TSLP	85480	genome.wustl.edu	37	5	110411739	110411739	+	Silent	SNP	T	T	G			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr5:110411739T>G	ENST00000344895.3	+	4	646	c.447T>G	c.(445-447)cgT>cgG	p.R149R	CTC-551A13.2_ENST00000507269.3_RNA|TSLP_ENST00000379706.4_Silent_p.R53R|TSLP_ENST00000420978.2_Silent_p.R149R	NM_033035.4	NP_149024.1	Q969D9	TSLP_HUMAN	thymic stromal lymphopoietin	149						extracellular space (GO:0005615)				breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11		all_cancers(142;2.72e-05)|all_epithelial(76;4.39e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0417)|Ovarian(225;0.0443)|Colorectal(57;0.0464)|all_lung(232;0.0507)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.24e-08)|Epithelial(69;1.54e-07)|all cancers(49;1.73e-05)|COAD - Colon adenocarcinoma(37;0.109)		GATTGTGGCGTCGCTTCAATC	0.353																																																	0													127.0	125.0	126.0					5																	110411739		2202	4300	6502	SO:0001819	synonymous_variant	0			BC040592	CCDS4101.1	5q22.1	2007-08-24			ENSG00000145777	ENSG00000145777			30743	protein-coding gene	gene with protein product		607003				11418668, 11480573	Standard	NM_033035		Approved		uc003kpb.2	Q969D9	OTTHUMG00000128791	ENST00000344895.3:c.447T>G	5.37:g.110411739T>G			Q8IW99	Silent	SNP	NULL	p.R149	ENST00000344895.3	37	c.447	CCDS4101.1	5																																																																																			TSLP	-	NULL	ENSG00000145777		0.353	TSLP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TSLP	HGNC	protein_coding	OTTHUMT00000250717.1	-	0.00	14	0	T	NM_033035		110411739	+1	tier1	-	no_errors	ENST00000344895	ensembl	human	known	74_37	silent	79.63	11	43	SNP	0.000	G
TTN	7273	genome.wustl.edu	37	2	179407890	179407890	+	Silent	SNP	A	A	G			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr2:179407890A>G	ENST00000591111.1	-	297	92111	c.91887T>C	c.(91885-91887)ggT>ggC	p.G30629G	TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.G23397G|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000589042.1_Silent_p.G32270G|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.G23330G|TTN_ENST00000342992.6_Silent_p.G29702G|RP11-65L3.4_ENST00000604692.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000460472.2_Silent_p.G23205G			Q8WZ42	TITIN_HUMAN	titin	30629	Fibronectin type-III 123. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGTATTGTTCACCTTCATTTA	0.443																																																	0													215.0	209.0	211.0					2																	179407890		1917	4142	6059	SO:0001819	synonymous_variant	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.91887T>C	2.37:g.179407890A>G			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_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.G29702	ENST00000591111.1	37	c.89106		2																																																																																			TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.443	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0.00	43	0	A	NM_133378		179407890	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	silent	29.31	41	17	SNP	0.401	G
TTN	7273	genome.wustl.edu	37	2	179583141	179583141	+	Missense_Mutation	SNP	A	A	C	rs373723384		TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr2:179583141A>C	ENST00000591111.1	-	83	23965	c.23741T>G	c.(23740-23742)cTt>cGt	p.L7914R	TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.L8231R|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.L6987R|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin	12105	Ig-like 61.				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)			TGTGCTCTCAAGAATTTCCAG	0.413																																																	0													143.0	136.0	138.0					2																	179583141		1886	4107	5993	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.23741T>G	2.37:g.179583141A>C	ENSP00000465570:p.Leu7914Arg		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.L6987R	ENST00000591111.1	37	c.20960		2	.	.	.	.	.	.	.	.	.	.	A	5.992	0.367027	0.11352	.	.	ENSG00000155657	ENST00000342992	T	0.65916	-0.18	6.16	3.81	0.43845	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.57710	0.2072	L	0.48935	1.535	0.19575	N	0.999961	B	0.21381	0.055	B	0.29598	0.104	T	0.54370	-0.8304	9	0.87932	D	0	.	10.6545	0.45667	0.8716:0.0:0.1284:0.0	.	7914	Q8WZ42	TITIN_HUMAN	R	6987	ENSP00000343764:L6987R	ENSP00000343764:L6987R	L	-	2	0	TTN	179291386	0.993000	0.37304	0.951000	0.38953	0.811000	0.45836	3.897000	0.56273	0.565000	0.29255	-0.256000	0.11100	CTT	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000155657		0.413	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0.00	24	0	A	NM_133378		179583141	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	31.25	22	10	SNP	0.040	C
TUBA3C	7278	genome.wustl.edu	37	13	19748208	19748208	+	Missense_Mutation	SNP	G	G	A			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr13:19748208G>A	ENST00000400113.3	-	5	1252	c.1148C>T	c.(1147-1149)gCc>gTc	p.A383V		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	383					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		CTCCGCGATGGCCGTGGTGTT	0.642																																																	0													92.0	83.0	86.0					13																	19748208		2203	4300	6503	SO:0001583	missense	0			AF005392	CCDS9284.1	13q12.11	2007-06-20	2007-02-12	2007-02-12	ENSG00000198033	ENSG00000198033		"""Tubulins"""	12408	protein-coding gene	gene with protein product		602528	"""tubulin, alpha 2"""	TUBA2		9465305	Standard	NM_006001		Approved	bA408E5.3	uc009zzj.3	Q13748	OTTHUMG00000016481	ENST00000400113.3:c.1148C>T	13.37:g.19748208G>A	ENSP00000382982:p.Ala383Val		A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin	p.A383V	ENST00000400113.3	37	c.1148	CCDS9284.1	13	.	.	.	.	.	.	.	.	.	.	g	14.15	2.450628	0.43531	.	.	ENSG00000198033	ENST00000400113;ENST00000360801	D	0.84660	-1.88	1.22	1.22	0.21188	.	0.000000	0.46758	U	0.000267	D	0.86556	0.5961	.	.	.	0.44816	D	0.997821	.	.	.	.	.	.	D	0.85869	0.1415	7	0.87932	D	0	.	8.3643	0.32378	0.0:0.0:1.0:0.0	.	.	.	.	V	383	ENSP00000382982:A383V	ENSP00000354037:A383V	A	-	2	0	TUBA3C	18646208	1.000000	0.71417	0.930000	0.37139	0.924000	0.55760	7.948000	0.87774	0.982000	0.38575	0.194000	0.17425	GCC	TUBA3C	-	pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Tubulin,prints_Delta_tubulin	ENSG00000198033		0.642	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	TUBA3C	HGNC	protein_coding	OTTHUMT00000044007.2	-	0.00	90	0	G	NM_006001		19748208	-1	tier1	-	no_errors	ENST00000400113	ensembl	human	known	74_37	missense	15.60	92	17	SNP	1.000	A
UBR1	197131	genome.wustl.edu	37	15	43294822	43294822	+	Missense_Mutation	SNP	C	C	A			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr15:43294822C>A	ENST00000290650.4	-	32	3668	c.3590G>T	c.(3589-3591)tGc>tTc	p.C1197F	UBR1_ENST00000382177.2_3'UTR|UBR1_ENST00000568782.1_5'Flank	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	1197					cellular response to leucine (GO:0071233)|negative regulation of TOR signaling (GO:0032007)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|proteasome complex (GO:0000502)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		GCAAAGAGGGCAAAGATATTC	0.363																																																	0													77.0	73.0	74.0					15																	43294822		2203	4299	6502	SO:0001583	missense	0				CCDS10091.1	15q13	2008-06-23			ENSG00000159459	ENSG00000159459		"""Ubiquitin protein ligase E3 component n-recognins"""	16808	protein-coding gene	gene with protein product		605981				9653112	Standard	NM_174916		Approved		uc001zqq.3	Q8IWV7	OTTHUMG00000130702	ENST00000290650.4:c.3590G>T	15.37:g.43294822C>A	ENSP00000290650:p.Cys1197Phe		O60708|O75492|Q14D45|Q68DN9|Q8IWY6|Q96JY4	Missense_Mutation	SNP	pfam_ClpS_core,pfam_Znf_N-recognin,superfamily_Ribosomal_L7/12_C/ClpS-like,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.C1197F	ENST00000290650.4	37	c.3590	CCDS10091.1	15	.	.	.	.	.	.	.	.	.	.	C	24.2	4.501595	0.85176	.	.	ENSG00000159459	ENST00000290650	D	0.99809	-6.86	5.29	5.29	0.74685	Zinc finger, RING/FYVE/PHD-type (1);	0.092768	0.85682	D	0.000000	D	0.99809	0.9917	M	0.89030	3	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.97222	0.9878	10	0.87932	D	0	-30.5135	19.1157	0.93338	0.0:1.0:0.0:0.0	.	1197	Q8IWV7	UBR1_HUMAN	F	1197	ENSP00000290650:C1197F	ENSP00000290650:C1197F	C	-	2	0	UBR1	41082114	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.950000	0.75977	2.753000	0.94483	0.460000	0.39030	TGC	UBR1	-	NULL	ENSG00000159459		0.363	UBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBR1	HGNC	protein_coding	OTTHUMT00000253202.1	-	0.00	37	0	C	NM_174916		43294822	-1	tier1	-	no_errors	ENST00000290650	ensembl	human	known	74_37	missense	5.97	63	4	SNP	1.000	A
UGGT1	56886	genome.wustl.edu	37	2	128878801	128878801	+	Missense_Mutation	SNP	C	C	G			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr2:128878801C>G	ENST00000259253.6	+	10	1049	c.1002C>G	c.(1000-1002)atC>atG	p.I334M	RN7SL206P_ENST00000580933.1_RNA|UGGT1_ENST00000375990.3_Missense_Mutation_p.I310M	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	334					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)|unfolded protein binding (GO:0051082)			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CTGCTCGAATCTTGGCTTCTC	0.368																																																	0													171.0	150.0	157.0					2																	128878801		2203	4300	6503	SO:0001583	missense	0			AF227905	CCDS2154.1	2q14.3	2009-07-23	2009-07-23	2009-07-23	ENSG00000136731	ENSG00000136731			15663	protein-coding gene	gene with protein product		605897	"""UDP-glucose ceramide glucosyltransferase-like 1"""	UGCGL1		10694380	Standard	NM_020120		Approved	HUGT1	uc002tps.3	Q9NYU2	OTTHUMG00000131570	ENST00000259253.6:c.1002C>G	2.37:g.128878801C>G	ENSP00000259253:p.Ile334Met		Q53QP2|Q53SL3|Q8IW30|Q9H8I4	Missense_Mutation	SNP	pfam_UDP-g_GGtrans	p.I334M	ENST00000259253.6	37	c.1002	CCDS2154.1	2	.	.	.	.	.	.	.	.	.	.	C	16.62	3.174301	0.57692	.	.	ENSG00000136731	ENST00000375990;ENST00000259253	T;T	0.50001	0.76;0.76	4.81	3.91	0.45181	.	0.046834	0.85682	D	0.000000	T	0.69133	0.3077	M	0.91406	3.205	0.58432	D	0.999997	D;D	0.65815	0.995;0.992	D;P	0.67382	0.951;0.864	T	0.71800	-0.4483	10	0.87932	D	0	.	6.4326	0.21805	0.1773:0.7013:0.0:0.1213	.	310;334	Q9NYU2-2;Q9NYU2	.;UGGG1_HUMAN	M	310;334	ENSP00000365158:I310M;ENSP00000259253:I334M	ENSP00000259253:I334M	I	+	3	3	UGGT1	128595271	0.999000	0.42202	1.000000	0.80357	0.991000	0.79684	0.931000	0.28871	1.117000	0.41842	0.557000	0.71058	ATC	UGGT1	-	NULL	ENSG00000136731		0.368	UGGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGGT1	HGNC	protein_coding	OTTHUMT00000254435.2	-	0.00	27	0	C	NM_020120		128878801	+1	tier1	-	no_errors	ENST00000259253	ensembl	human	known	74_37	missense	50.67	37	38	SNP	1.000	G
USP8	9101	genome.wustl.edu	37	15	50785016	50785016	+	Missense_Mutation	SNP	A	A	G	rs148783236	byFrequency	TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr15:50785016A>G	ENST00000396444.3	+	15	2691	c.2353A>G	c.(2353-2355)Act>Gct	p.T785A	USP8_ENST00000425032.3_Missense_Mutation_p.T679A|USP8_ENST00000307179.4_Missense_Mutation_p.T785A|USP8_ENST00000433963.1_Missense_Mutation_p.T785A|RP11-562A8.5_ENST00000560159.1_lincRNA	NM_001128610.1|NM_005154.3	NP_001122082.1|NP_005145.3	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	785	USP.				cell proliferation (GO:0008283)|endosome organization (GO:0007032)|mitotic cytokinesis (GO:0000281)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|Ras protein signal transduction (GO:0007265)|ubiquitin-dependent protein catabolic process (GO:0006511)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|midbody (GO:0030496)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)	p.T785A(2)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		CTTAGGAAATACTTGTTATAT	0.398																																																	2	Substitution - Missense(2)	prostate(2)											118.0	105.0	110.0					15																	50785016		2196	4294	6490	SO:0001583	missense	0			D29956	CCDS10137.1, CCDS61632.1	15q21.1	2014-03-03	2005-08-08		ENSG00000138592	ENSG00000138592		"""Ubiquitin-specific peptidases"""	12631	protein-coding gene	gene with protein product		603158	"""ubiquitin specific protease 8"""			12838346, 9582025, 24482476	Standard	NM_005154		Approved	HumORF8, KIAA0055, UBPY, SPG59	uc001zyl.4	P40818	OTTHUMG00000131645	ENST00000396444.3:c.2353A>G	15.37:g.50785016A>G	ENSP00000379721:p.Thr785Ala		B4DKA8|Q2TB31|Q7Z3U2|Q86VA0|Q8IWI7	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,pfam_USP8_dimer,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,superfamily_WW_dom,pfscan_Rhodanese-like_dom,pfscan_Peptidase_C19/C67	p.T785A	ENST00000396444.3	37	c.2353	CCDS10137.1	15	.	.	.	.	.	.	.	.	.	.	A	25.6	4.653902	0.88056	.	.	ENSG00000138592	ENST00000396444;ENST00000433963;ENST00000307179;ENST00000425032;ENST00000419830;ENST00000396440	T;T;T;T	0.46451	0.87;0.87;0.87;0.87	5.22	5.22	0.72569	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2, conserved site (1);Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.74496	0.3724	H	0.95712	3.71	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.79108	0.964;0.992	T	0.83303	-0.0027	10	0.87932	D	0	-18.2981	15.3993	0.74827	1.0:0.0:0.0:0.0	.	679;785	B4DKA8;P40818	.;UBP8_HUMAN	A	785;785;785;679;10;10	ENSP00000379721:T785A;ENSP00000405537:T785A;ENSP00000302239:T785A;ENSP00000412682:T679A	ENSP00000302239:T785A	T	+	1	0	USP8	48572308	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	8.648000	0.91062	2.096000	0.63516	0.528000	0.53228	ACT	USP8	-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	ENSG00000138592		0.398	USP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP8	HGNC	protein_coding	OTTHUMT00000254541.1		0.00	25	0	A	NM_005154		50785016	+1			no_errors	ENST00000307179	ensembl	human	known	74_37	missense	14.63	35	6	SNP	1.000	G
UNC13C	440279	genome.wustl.edu	37	15	54590124	54590124	+	Splice_Site	SNP	G	G	A			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr15:54590124G>A	ENST00000260323.11	+	11	4104	c.4104G>A	c.(4102-4104)gaG>gaA	p.E1368E	UNC13C_ENST00000537900.1_Splice_Site_p.E1366E|UNC13C_ENST00000545554.1_Splice_Site_p.E1368E	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1368					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GTTTACATGAGGTAAATAAAT	0.289																																																	0													47.0	44.0	45.0					15																	54590124		1805	4064	5869	SO:0001630	splice_region_variant	0			AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.4104+1G>A	15.37:g.54590124G>A			Q0P613|Q8ND48|Q96NP3	Silent	SNP	pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.E1368	ENST00000260323.11	37	c.4104	CCDS45264.1	15																																																																																			UNC13C	-	superfamily_C2_dom	ENSG00000137766		0.289	UNC13C-001	KNOWN	basic|CCDS	protein_coding	UNC13C	HGNC	protein_coding	OTTHUMT00000419028.3		0.00	20	0	G	NM_173166	Silent	54590124	+1			no_errors	ENST00000260323	ensembl	human	known	74_37	silent	36.36	20	12	SNP	1.000	A
USP9Y	8287	genome.wustl.edu	37	Y	14954277	14954277	+	Silent	SNP	C	C	T			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chrY:14954277C>T	ENST00000338981.3	+	38	7269	c.6324C>T	c.(6322-6324)tgC>tgT	p.C2108C	USP9Y_ENST00000426564.2_3'UTR	NM_004654.3	NP_004645.2	O00507	USP9Y_HUMAN	ubiquitin specific peptidase 9, Y-linked	2108					BMP signaling pathway (GO:0030509)|protein deubiquitination (GO:0016579)|spermatogenesis (GO:0007283)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)	co-SMAD binding (GO:0070410)|cysteine-type peptidase activity (GO:0008234)|ubiquitin-specific protease activity (GO:0004843)			kidney(1)|large_intestine(8)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						TTCTGGAGTGCCCTAGTGCAG	0.413																																																	0																																										SO:0001819	synonymous_variant	0			Y13618	CCDS14781.1	Yq11.2	2010-04-09	2009-03-17		ENSG00000114374	ENSG00000114374		"""Ubiquitin-specific peptidases"""	12633	protein-coding gene	gene with protein product	"""fat facets-like homolog (Drosophila)"""	400005	"""ubiquitin specific peptidase 9, Y-linked (fat facets-like, Drosophila)"""			8922996, 9384609, 19246359	Standard	NM_004654		Approved	DFFRY	uc004fst.1	O00507	OTTHUMG00000036469	ENST00000338981.3:c.6324C>T	Y.37:g.14954277C>T			O14601	Silent	SNP	pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,superfamily_Glycoside_hydrolase_SF,pfscan_Peptidase_C19/C67	p.C2108	ENST00000338981.3	37	c.6324	CCDS14781.1	Y																																																																																			USP9Y	-	NULL	ENSG00000114374		0.413	USP9Y-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP9Y	HGNC	protein_coding	OTTHUMT00000088703.2	-	0.00	25	0	C	NM_004654		14954277	+1	tier1	-	no_errors	ENST00000338981	ensembl	human	known	74_37	silent	14.29	18	3	SNP	1.000	T
UTP23	84294	genome.wustl.edu	37	8	117798811	117798811	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr8:117798811G>T	ENST00000357148.3	+	3	534	c.433G>T	c.(433-435)Ggc>Tgc	p.G145C	UTP23_ENST00000520733.1_Intron|UTP23_ENST00000517820.1_Intron			Q9BRU9	UTP23_HUMAN	UTP23, small subunit (SSU) processome component, homolog (yeast)	0					rRNA processing (GO:0006364)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	12						tgctctgattggctagctctg	0.423																																																	0																																										SO:0001583	missense	0				CCDS6320.1	8q24.11	2008-06-12	2008-06-12	2008-06-12		ENSG00000147679			28224	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 53"""	C8orf53		16769905	Standard	NM_032334		Approved	MGC14595	uc003yoc.3	Q9BRU9		ENST00000357148.3:c.433G>T	8.37:g.117798811G>T	ENSP00000349670:p.Gly145Cys		B2RE25|Q96NJ8	Missense_Mutation	SNP	pfam_Fcf1/Utp23	p.G145C	ENST00000357148.3	37	c.433		8	.	.	.	.	.	.	.	.	.	.	G	5.899	0.349978	0.11182	.	.	ENSG00000147679	ENST00000357148	.	.	.	1.2	1.2	0.21068	.	.	.	.	.	T	0.39835	0.1093	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.37619	-0.9698	5	0.87932	D	0	.	5.7944	0.18379	0.0:0.0:1.0:0.0	.	.	.	.	C	145	.	ENSP00000349670:G145C	G	+	1	0	UTP23	117867992	0.000000	0.05858	0.041000	0.18516	0.014000	0.08584	-0.968000	0.03817	0.969000	0.38237	0.563000	0.77884	GGC	UTP23	-	NULL	ENSG00000147679		0.423	UTP23-201	KNOWN	basic	protein_coding	UTP23	HGNC	protein_coding		-	0.00	46	0	G	NM_032334		117798811	+1	tier1	-	no_errors	ENST00000357148	ensembl	human	known	74_37	missense	5.48	69	4	SNP	0.055	T
UTRN	7402	genome.wustl.edu	37	6	145079167	145079167	+	Intron	SNP	A	A	G			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr6:145079167A>G	ENST00000367545.3	+	57	8495				UTRN_ENST00000480333.1_3'UTR|UTRN_ENST00000367526.4_Intron	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin						aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CAAGAAAATCATGTTTTATTG	0.308																																																	0													81.0	78.0	79.0					6																	145079167		2203	4299	6502	SO:0001627	intron_variant	0			AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.8495+42A>G	6.37:g.145079167A>G			Q5SYY1|Q5SZ57|Q9UJ40	RNA	SNP	-	NULL	ENST00000367545.3	37	NULL	CCDS34547.1	6																																																																																			UTRN	-	-	ENSG00000152818		0.308	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTRN	HGNC	protein_coding	OTTHUMT00000042551.1	-	0.00	28	0	A			145079167	+1	tier1	-	no_errors	ENST00000480333	ensembl	human	known	74_37	rna	67.86	9	19	SNP	0.004	G
WBSCR17	64409	genome.wustl.edu	37	7	70597949	70597949	+	Missense_Mutation	SNP	A	A	G			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr7:70597949A>G	ENST00000333538.5	+	1	795	c.161A>G	c.(160-162)cAc>cGc	p.H54R		NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	54					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				CTCAGCGCGCACAGCGCCAGC	0.692																																																	0													21.0	21.0	21.0					7																	70597949		2194	4294	6488	SO:0001583	missense	0			AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"""Glycosyltransferase family 2 domain containing"""	16347	protein-coding gene	gene with protein product	"""polypeptide N-acetylgalactosaminyltransferase-like 3"", ""polypeptide GalNAc transferase 3"""	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.161A>G	7.37:g.70597949A>G	ENSP00000329654:p.His54Arg		Q8NFV9|Q9NTA8	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.H54R	ENST00000333538.5	37	c.161	CCDS5540.1	7	.	.	.	.	.	.	.	.	.	.	A	6.897	0.535088	0.13188	.	.	ENSG00000185274	ENST00000333538	T	0.52295	0.67	4.85	2.33	0.28932	.	0.629307	0.15106	N	0.280226	T	0.27832	0.0685	N	0.22421	0.69	0.29770	N	0.834838	B	0.02656	0.0	B	0.04013	0.001	T	0.19679	-1.0298	10	0.16420	T	0.52	.	6.3857	0.21559	0.72:0.1391:0.1409:0.0	.	54	Q6IS24	GLTL3_HUMAN	R	54	ENSP00000329654:H54R	ENSP00000329654:H54R	H	+	2	0	WBSCR17	70235885	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.687000	0.46976	0.840000	0.34995	0.460000	0.39030	CAC	WBSCR17	-	NULL	ENSG00000185274		0.692	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WBSCR17	HGNC	protein_coding	OTTHUMT00000252006.1	-	0.00	26	0	A	NM_022479		70597949	+1	tier1	-	no_errors	ENST00000333538	ensembl	human	known	74_37	missense	75.00	3	9	SNP	1.000	G
WBSCR17	64409	genome.wustl.edu	37	7	70886066	70886066	+	Missense_Mutation	SNP	G	G	A			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr7:70886066G>A	ENST00000333538.5	+	5	1571	c.937G>A	c.(937-939)Gcc>Acc	p.A313T	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	313					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.A313S(1)		NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				CTGGTGGGACGCCGGAGACCC	0.597																																																	1	Substitution - Missense(1)	endometrium(1)											56.0	58.0	57.0					7																	70886066		2203	4300	6503	SO:0001583	missense	0			AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"""Glycosyltransferase family 2 domain containing"""	16347	protein-coding gene	gene with protein product	"""polypeptide N-acetylgalactosaminyltransferase-like 3"", ""polypeptide GalNAc transferase 3"""	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.937G>A	7.37:g.70886066G>A	ENSP00000329654:p.Ala313Thr		Q8NFV9|Q9NTA8	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.A313T	ENST00000333538.5	37	c.937	CCDS5540.1	7	.	.	.	.	.	.	.	.	.	.	G	18.10	3.548491	0.65311	.	.	ENSG00000185274	ENST00000333538	T	0.59364	0.27	5.32	5.32	0.75619	.	0.053435	0.64402	D	0.000001	T	0.45955	0.1368	N	0.17278	0.47	0.80722	D	1	P	0.42973	0.796	B	0.41666	0.363	T	0.43393	-0.9394	10	0.33141	T	0.24	.	18.0015	0.89199	0.0:0.0:1.0:0.0	.	313	Q6IS24	GLTL3_HUMAN	T	313	ENSP00000329654:A313T	ENSP00000329654:A313T	A	+	1	0	WBSCR17	70524002	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.476000	0.97823	2.490000	0.84030	0.557000	0.71058	GCC	WBSCR17	-	NULL	ENSG00000185274		0.597	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WBSCR17	HGNC	protein_coding	OTTHUMT00000252006.1		0.00	70	0	G	NM_022479		70886066	+1			no_errors	ENST00000333538	ensembl	human	known	74_37	missense	5.41	34	2	SNP	1.000	A
WDR55	54853	genome.wustl.edu	37	5	140047990	140047990	+	Intron	DEL	T	T	-			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr5:140047990delT	ENST00000358337.5	+	3	529					NM_017706.4	NP_060176	Q9H6Y2	WDR55_HUMAN	WD repeat domain 55						rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)				NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTGGGCACCTTTTCCCCAGA	0.537																																																	0													191.0	173.0	179.0					5																	140047990		2203	4300	6503	SO:0001627	intron_variant	0			AK000202	CCDS4235.1	5q31.3	2013-01-09			ENSG00000120314	ENSG00000120314		"""WD repeat domain containing"""	25971	protein-coding gene	gene with protein product						12477932	Standard	NM_017706		Approved	FLJ20195, FLJ21702	uc003lgr.4	Q9H6Y2	OTTHUMG00000129506	ENST00000358337.5:c.293-10T>-	5.37:g.140047990delT			Q9NXK4	Frame_Shift_Del	DEL	NULL	p.Q124fs	ENST00000358337.5	37	c.363	CCDS4235.1	5																																																																																			WDR55	-	NULL	ENSG00000120314		0.537	WDR55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR55	HGNC	protein_coding	OTTHUMT00000251680.3		0.00	37	0	T	NM_017706		140047990	+1	tier1		no_errors	ENST00000506393	ensembl	human	known	74_37	frame_shift_del	5.41	35	2	DEL	0.101	-
WWP1	11059	genome.wustl.edu	37	8	87473462	87473462	+	Nonsense_Mutation	SNP	G	G	T	rs368913513		TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr8:87473462G>T	ENST00000517970.1	+	23	2816	c.2509G>T	c.(2509-2511)Gag>Tag	p.E837*	WWP1_ENST00000265428.4_Nonsense_Mutation_p.E837*|WWP1_ENST00000341922.2_Nonsense_Mutation_p.E707*|WWP1_ENST00000349423.2_Nonsense_Mutation_p.E619*	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	837	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				central nervous system development (GO:0007417)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						GTTTGTGAAAGAGACAGACAA	0.343																																																	0													129.0	122.0	124.0					8																	87473462		2203	4300	6503	SO:0001587	stop_gained	0			AY043361	CCDS6242.1	8q21.3	2013-07-22			ENSG00000123124	ENSG00000123124			17004	protein-coding gene	gene with protein product		602307				9169421, 9647693	Standard	NM_007013		Approved	AIP5, DKFZP434D2111	uc003ydt.3	Q9H0M0	OTTHUMG00000163690	ENST00000517970.1:c.2509G>T	8.37:g.87473462G>T	ENSP00000427793:p.Glu837*		O00307|Q5YLC1|Q96BP4	Nonsense_Mutation	SNP	pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_C2_dom,superfamily_WW_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom	p.E837*	ENST00000517970.1	37	c.2509	CCDS6242.1	8	.	.	.	.	.	.	.	.	.	.	G	40	8.136182	0.98672	.	.	ENSG00000123124	ENST00000517970;ENST00000265428;ENST00000341922;ENST00000349423;ENST00000520798	.	.	.	5.31	5.31	0.75309	.	0.052740	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	19.3314	0.94291	0.0:0.0:1.0:0.0	.	.	.	.	X	837;837;707;619;3	.	ENSP00000265428:E837X	E	+	1	0	WWP1	87542578	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.420000	0.97426	2.643000	0.89663	0.650000	0.86243	GAG	WWP1	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT	ENSG00000123124		0.343	WWP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WWP1	HGNC	protein_coding	OTTHUMT00000374755.1		0.00	26	0	G	NM_007013		87473462	+1			no_errors	ENST00000265428	ensembl	human	known	74_37	nonsense	5.00	57	3	SNP	1.000	T
XDH	7498	genome.wustl.edu	37	2	31560560	31560560	+	Missense_Mutation	SNP	G	G	A			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr2:31560560G>A	ENST00000379416.3	-	35	3946	c.3898C>T	c.(3898-3900)Cct>Tct	p.P1300S		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	1300					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|lactation (GO:0007595)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of gene expression (GO:0010629)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|negative regulation of vasculogenesis (GO:2001213)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)|xanthine catabolic process (GO:0009115)	cytosol (GO:0005829)|extracellular space (GO:0005615)|peroxisome (GO:0005777)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|protein homodimerization activity (GO:0042803)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)|xanthine oxidase activity (GO:0004855)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	GGGGTGGCAGGGCTGTCTAGC	0.567																																					Colon(66;682 1445 30109 40147)												0													129.0	113.0	119.0					2																	31560560		2203	4300	6503	SO:0001583	missense	0			D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"""xanthene dehydrogenase"""			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.3898C>T	2.37:g.31560560G>A	ENSP00000368727:p.Pro1300Ser		Q16681|Q16712|Q4PJ16	Missense_Mutation	SNP	pfam_AldOxase/xan_DH_Mopterin-bd,pfam_Mopterin_DH_FAD-bd,pfam_Ald_Oxase/Xan_DH_a/b,pfam_2Fe-2S-bd,pfam_CO_DH_flav_C,pfam_2Fe-2S_ferredoxin-type,superfamily_AldOxase/xan_DH_Mopterin-bd,superfamily_FAD-bd_2,superfamily_Ald_Oxase/Xan_DH_a/b,superfamily_2Fe-2S-bd,superfamily_CO_DH_flav_C,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Xanthine_DH_ssu	p.P1300S	ENST00000379416.3	37	c.3898	CCDS1775.1	2	.	.	.	.	.	.	.	.	.	.	G	34	5.371238	0.95923	.	.	ENSG00000158125	ENST00000379416	D	0.83419	-1.72	6.08	6.08	0.98989	Aldehyde oxidase/xanthine dehydrogenase, molybdopterin binding (2);	0.045478	0.85682	D	0.000000	D	0.93259	0.7852	M	0.91717	3.235	0.80722	D	1	D	0.76494	0.999	D	0.69654	0.965	D	0.93684	0.7001	10	0.87932	D	0	.	20.2738	0.98482	0.0:0.0:1.0:0.0	.	1300	P47989	XDH_HUMAN	S	1300	ENSP00000368727:P1300S	ENSP00000368727:P1300S	P	-	1	0	XDH	31414064	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.782000	0.99034	2.894000	0.99253	0.655000	0.94253	CCT	XDH	-	superfamily_AldOxase/xan_DH_Mopterin-bd,pirsf_Ald_Oxase/xanthine_DH	ENSG00000158125		0.567	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XDH	HGNC	protein_coding	OTTHUMT00000216840.1		0.00	53	0	G	NM_000379		31560560	-1			no_errors	ENST00000379416	ensembl	human	known	74_37	missense	5.00	57	3	SNP	1.000	A
YTHDC1	91746	genome.wustl.edu	37	4	69198527	69198527	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr4:69198527G>T	ENST00000344157.4	-	6	1347	c.1012C>A	c.(1012-1014)Cgt>Agt	p.R338S	YTHDC1_ENST00000355665.3_Intron|YTHDC1_ENST00000579690.1_Missense_Mutation_p.R338S	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	338					mRNA splice site selection (GO:0006376)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						CGGACAGCACGAACGGAAGAT	0.318																																																	0													100.0	90.0	94.0					4																	69198527		2202	4299	6501	SO:0001583	missense	0			AK098515	CCDS3522.2, CCDS33992.1	4q13.3	2009-01-14			ENSG00000083896	ENSG00000083896			30626	protein-coding gene	gene with protein product						12368078, 10564280	Standard	XM_005265706		Approved	YT521, KIAA1966, YT521-B	uc003hdx.3	Q96MU7	OTTHUMG00000129306	ENST00000344157.4:c.1012C>A	4.37:g.69198527G>T	ENSP00000339245:p.Arg338Ser		Q4W5Q3|Q7Z622|Q8TF35	Missense_Mutation	SNP	pfam_YTH_domain,pfscan_YTH_domain	p.R338S	ENST00000344157.4	37	c.1012	CCDS33992.1	4	.	.	.	.	.	.	.	.	.	.	G	11.08	1.534487	0.27475	.	.	ENSG00000083896	ENST00000344157	T	0.24350	1.86	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.18635	0.0447	L	0.27053	0.805	0.80722	D	1	B	0.17852	0.024	B	0.17722	0.019	T	0.07347	-1.0777	10	0.02654	T	1	.	19.3228	0.94248	0.0:0.0:1.0:0.0	.	338	Q96MU7	YTDC1_HUMAN	S	338	ENSP00000339245:R338S	ENSP00000339245:R338S	R	-	1	0	YTHDC1	68881122	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.443000	0.66581	2.642000	0.89623	0.460000	0.39030	CGT	YTHDC1	-	NULL	ENSG00000083896		0.318	YTHDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	YTHDC1	HGNC	protein_coding	OTTHUMT00000251437.1		0.00	33	0	G	NM_133370		69198527	-1			no_errors	ENST00000344157	ensembl	human	known	74_37	missense	5.08	56	3	SNP	1.000	T
YWHAZ	7534	genome.wustl.edu	37	8	101936481	101936481	+	Missense_Mutation	SNP	A	A	G			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr8:101936481A>G	ENST00000395957.2	-	5	805	c.464T>C	c.(463-465)aTc>aCc	p.I155T	YWHAZ_ENST00000522819.1_Missense_Mutation_p.I35T|YWHAZ_ENST00000457309.1_Missense_Mutation_p.I155T|YWHAZ_ENST00000521309.1_Missense_Mutation_p.I35T|YWHAZ_ENST00000522542.1_Missense_Mutation_p.I80T|YWHAZ_ENST00000395956.3_Missense_Mutation_p.I155T|YWHAZ_ENST00000353245.3_Missense_Mutation_p.I155T|YWHAZ_ENST00000395948.2_Missense_Mutation_p.I78T|YWHAZ_ENST00000419477.2_Missense_Mutation_p.I155T|YWHAZ_ENST00000395953.2_Missense_Mutation_p.I155T|YWHAZ_ENST00000395951.3_Missense_Mutation_p.I155T|YWHAZ_ENST00000395958.2_Missense_Mutation_p.I155T			P63104	1433Z_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta	155					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|gene expression (GO:0010467)|histamine secretion by mast cell (GO:0002553)|intrinsic apoptotic signaling pathway (GO:0097193)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|platelet activation (GO:0030168)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein targeting to mitochondrion (GO:0006626)|response to drug (GO:0042493)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mast cell granule (GO:0042629)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|transcription factor binding (GO:0008134)			large_intestine(1)|lung(2)	3	all_cancers(14;7.43e-06)|all_epithelial(15;2.77e-08)|Lung NSC(17;6.08e-05)|all_lung(17;0.000197)		Epithelial(11;2.79e-11)|all cancers(13;5.45e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.75e-05)			CTTTTTGCTGATTTCAAAAGC	0.423																																																	0													65.0	64.0	65.0					8																	101936481		2203	4297	6500	SO:0001583	missense	0			U28964	CCDS6290.1	8q22.3	2013-12-03	2013-12-03		ENSG00000164924	ENSG00000164924			12855	protein-coding gene	gene with protein product	"""14-3-3 zeta"", ""14-3-3 delta"""	601288	"""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, delta polypeptide"", ""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta polypeptide"""	YWHAD		8617504, 7890696	Standard	NM_003406		Approved	KCIP-1, 14-3-3-zeta	uc010mbr.2	P63104	OTTHUMG00000134291	ENST00000395957.2:c.464T>C	8.37:g.101936481A>G	ENSP00000379287:p.Ile155Thr		A8K1N0|B7Z465|P29213|P29312|Q32P43|Q5XJ08|Q6GPI2|Q6IN74|Q6NUR9|Q6P3U9|Q86V33	Missense_Mutation	SNP	pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3	p.I155T	ENST00000395957.2	37	c.464	CCDS6290.1	8	.	.	.	.	.	.	.	.	.	.	A	20.3	3.975134	0.74360	.	.	ENSG00000164924	ENST00000395957;ENST00000457309;ENST00000395958;ENST00000395956;ENST00000353245;ENST00000522542;ENST00000521309;ENST00000517797;ENST00000522819;ENST00000395953;ENST00000395948;ENST00000395951;ENST00000419477;ENST00000521607	T;T;T;T;T;T;T;T;T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88	4.98	4.98	0.66077	14-3-3 domain (4);	0.000000	0.64402	D	0.000002	T	0.48187	0.1486	L	0.56280	1.765	0.80722	D	1	B;B	0.28900	0.227;0.227	B;B	0.40901	0.343;0.343	T	0.48692	-0.9013	10	0.44086	T	0.13	.	14.9809	0.71311	1.0:0.0:0.0:0.0	.	155;155	D0PNI1;P63104	.;1433Z_HUMAN	T	155;155;155;155;155;80;35;78;35;155;78;155;155;163	ENSP00000379287:I155T;ENSP00000398599:I155T;ENSP00000379288:I155T;ENSP00000379286:I155T;ENSP00000309503:I155T;ENSP00000430072:I80T;ENSP00000429623:I35T;ENSP00000428775:I35T;ENSP00000379283:I155T;ENSP00000379278:I78T;ENSP00000379281:I155T;ENSP00000395114:I155T;ENSP00000430058:I163T	ENSP00000309503:I155T	I	-	2	0	YWHAZ	102005657	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.184000	0.94893	2.004000	0.58718	0.477000	0.44152	ATC	YWHAZ	-	pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3	ENSG00000164924		0.423	YWHAZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YWHAZ	HGNC	protein_coding	OTTHUMT00000259017.2	-	0.00	26	0	A	NM_145690		101936481	-1	tier1	-	no_errors	ENST00000353245	ensembl	human	known	74_37	missense	24.69	61	20	SNP	1.000	G
ZBTB1	22890	genome.wustl.edu	37	14	64988318	64988318	+	Missense_Mutation	SNP	C	C	A			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr14:64988318C>A	ENST00000554015.1	+	4	527	c.96C>A	c.(94-96)gaC>gaA	p.D32E	ZBTB1_ENST00000394712.2_Missense_Mutation_p.D32E|ZBTB1_ENST00000358738.3_Missense_Mutation_p.D32E|RP11-973N13.4_ENST00000554918.1_RNA			Q9Y2K1	ZBTB1_HUMAN	zinc finger and BTB domain containing 1	32	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				B cell differentiation (GO:0030183)|innate immune response (GO:0045087)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of pro-T cell differentiation (GO:2000176)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of T cell mediated immunity (GO:0002711)|protein homooligomerization (GO:0051260)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13		all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294)		UCEC - Uterine corpus endometrioid carcinoma (185;0.0182)|all cancers(60;3.78e-43)|OV - Ovarian serous cystadenocarcinoma(108;1.22e-20)|BRCA - Breast invasive adenocarcinoma(234;6.75e-06)|KIRC - Kidney renal clear cell carcinoma(182;0.00269)|STAD - Stomach adenocarcinoma(64;0.012)		CAATTGATGACATTTACTTTC	0.428																																																	0													113.0	105.0	108.0					14																	64988318		2203	4300	6503	SO:0001583	missense	0			AB023214	CCDS32097.1, CCDS45126.1	14q23.3	2013-01-09			ENSG00000126804	ENSG00000126804		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	20259	protein-coding gene	gene with protein product						10231032	Standard	NM_014950		Approved	KIAA0997, ZNF909	uc010aqg.3	Q9Y2K1		ENST00000554015.1:c.96C>A	14.37:g.64988318C>A	ENSP00000451000:p.Asp32Glu		A8K6S8|Q86SW8	Missense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.D32E	ENST00000554015.1	37	c.96	CCDS45126.1	14	.	.	.	.	.	.	.	.	.	.	C	33	5.227727	0.95173	.	.	ENSG00000126804	ENST00000553583;ENST00000556965;ENST00000554015;ENST00000358738;ENST00000394712;ENST00000555321	T;T;T;T;T;T	0.71461	-0.57;-0.57;-0.57;-0.57;-0.57;1.92	6.16	6.16	0.99307	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.154659	0.45606	D	0.000359	T	0.77532	0.4144	L	0.41124	1.26	0.53005	D	0.999967	P;D	0.76494	0.761;0.999	P;D	0.85130	0.448;0.997	T	0.78160	-0.2312	10	0.87932	D	0	-24.6382	11.6865	0.51490	0.0:0.8957:0.0:0.1043	.	32;32	Q9Y2K1-2;Q9Y2K1	.;ZBTB1_HUMAN	E	32	ENSP00000451584:D32E;ENSP00000450689:D32E;ENSP00000451000:D32E;ENSP00000351587:D32E;ENSP00000378201:D32E;ENSP00000451332:D32E	ENSP00000351587:D32E	D	+	3	2	ZBTB1	64058071	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.856000	0.62932	2.937000	0.99478	0.650000	0.86243	GAC	ZBTB1	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	ENSG00000126804		0.428	ZBTB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB1	HGNC	protein_coding	OTTHUMT00000411912.1	-	0.00	25	0	C			64988318	+1	tier1	-	no_errors	ENST00000394712	ensembl	human	known	74_37	missense	12.12	29	4	SNP	1.000	A
ZC3H12C	85463	genome.wustl.edu	37	11	110007878	110007878	+	Missense_Mutation	SNP	A	A	C			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr11:110007878A>C	ENST00000278590.3	+	2	563	c.512A>C	c.(511-513)aAg>aCg	p.K171T	ZC3H12C_ENST00000528673.1_Missense_Mutation_p.K172T|ZC3H12C_ENST00000453089.2_Missense_Mutation_p.K140T	NM_033390.1	NP_203748.1	Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	171							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		TTTGCACTTAAGTTAGGTTAT	0.383																																																	0													70.0	65.0	67.0					11																	110007878		1852	4102	5954	SO:0001583	missense	0				CCDS44727.1	11q22.3	2012-07-05			ENSG00000149289	ENSG00000149289		"""Zinc fingers, CCCH-type domain containing"""	29362	protein-coding gene	gene with protein product	"""MCP induced protein 3"""	615001				11214970, 18178554	Standard	NM_033390		Approved	KIAA1726, MCPIP3	uc009yxw.3	Q9C0D7	OTTHUMG00000166572	ENST00000278590.3:c.512A>C	11.37:g.110007878A>C	ENSP00000278590:p.Lys171Thr		B4DI65|B4DR47	Missense_Mutation	SNP	pfam_RNase_Zc3h12	p.K171T	ENST00000278590.3	37	c.512	CCDS44727.1	11	.	.	.	.	.	.	.	.	.	.	a	21.8	4.197455	0.79015	.	.	ENSG00000149289	ENST00000278590;ENST00000528673;ENST00000453089	T;T;T	0.59224	0.28;0.28;0.31	5.46	5.46	0.80206	.	0.871488	0.09011	U	0.861548	T	0.80711	0.4675	M	0.84683	2.71	0.58432	D	0.999999	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.85130	0.991;0.997;0.991	T	0.76895	-0.2790	10	0.87932	D	0	-15.8141	15.5248	0.75894	1.0:0.0:0.0:0.0	.	172;171;171	B4DR47;B4DI65;Q9C0D7	.;.;ZC12C_HUMAN	T	171;172;140	ENSP00000278590:K171T;ENSP00000431821:K172T;ENSP00000413094:K140T	ENSP00000278590:K171T	K	+	2	0	ZC3H12C	109513088	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.958000	0.93099	2.066000	0.61787	0.528000	0.53228	AAG	ZC3H12C	-	NULL	ENSG00000149289		0.383	ZC3H12C-001	KNOWN	basic|CCDS	protein_coding	ZC3H12C	HGNC	protein_coding	OTTHUMT00000390491.1	-	0.00	31	0	A	NM_033390		110007878	+1	tier1	-	no_errors	ENST00000278590	ensembl	human	known	74_37	missense	66.67	10	20	SNP	1.000	C
ZCCHC16	340595	genome.wustl.edu	37	X	111698082	111698082	+	Silent	SNP	A	A	G			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chrX:111698082A>G	ENST00000340433.2	+	1	356	c.126A>G	c.(124-126)caA>caG	p.Q42Q		NM_001004308.2	NP_001004308.2	Q6ZR62	ZCH16_HUMAN	zinc finger, CCHC domain containing 16	42							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						AAAGGGGCCAAGTCATGCCTG	0.522																																																	0													120.0	88.0	99.0					X																	111698082		2203	4300	6503	SO:0001819	synonymous_variant	0			AK128465	CCDS35369.1	Xq23	2008-05-02			ENSG00000187823	ENSG00000187823		"""Zinc fingers, CCHC domain containing"""	25214	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_001004308		Approved	Mart4, Mar4, FLJ46608	uc004epo.1	Q6ZR62	OTTHUMG00000159706	ENST00000340433.2:c.126A>G	X.37:g.111698082A>G			B2RPG1	Silent	SNP	superfamily_Znf_CCHC,pfscan_Znf_CCHC	p.Q42	ENST00000340433.2	37	c.126	CCDS35369.1	X																																																																																			ZCCHC16	-	NULL	ENSG00000187823		0.522	ZCCHC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZCCHC16	HGNC	protein_coding	OTTHUMT00000356964.1	-	0.00	21	0	A	NM_001004308		111698082	+1	tier1	-	no_errors	ENST00000340433	ensembl	human	known	74_37	silent	69.70	10	23	SNP	0.001	G
ZFHX3	463	genome.wustl.edu	37	16	73092841	73092843	+	5'UTR	DEL	GGA	GGA	-			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	GGA	GGA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr16:73092841_73092843delGGA	ENST00000397992.5	-	0	754_756				RP11-346C20.4_ENST00000606272.1_lincRNA|RP11-346C20.3_ENST00000604855.2_lincRNA|ZFHX3_ENST00000558842.1_5'UTR	NM_001164766.1	NP_001158238.1	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3						brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				gctgcggccgggaggaggaggag	0.685																																																	0																																										SO:0001623	5_prime_UTR_variant	0			D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000397992.5:c.-438TCC>-	16.37:g.73092850_73092852delGGA			D3DWS8|O15101|Q13719	RNA	DEL	-	NULL	ENST00000397992.5	37	NULL	CCDS54035.1	16																																																																																			ZFHX3	-	-	ENSG00000140836		0.685	ZFHX3-002	KNOWN	basic|CCDS	protein_coding	ZFHX3	HGNC	protein_coding	OTTHUMT00000419115.1		0.00	11	0	GGA	NM_006885		73092843	-1	tier1		no_errors	ENST00000558842	ensembl	human	known	74_37	rna	50.00	2	2	DEL	1.000:1.000:1.000	-
ZFP2	80108	genome.wustl.edu	37	5	178359431	178359431	+	Missense_Mutation	SNP	C	C	A			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr5:178359431C>A	ENST00000361362.2	+	5	1647	c.1117C>A	c.(1117-1119)Cag>Aag	p.Q373K	ZFP2_ENST00000503510.2_Missense_Mutation_p.Q373K|ZFP2_ENST00000520301.1_Missense_Mutation_p.Q373K|ZFP2_ENST00000523286.1_Missense_Mutation_p.Q373K	NM_030613.2	NP_085116.2	Q6ZN57	ZFP2_HUMAN	ZFP2 zinc finger protein	373					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	20	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)		TACCGTGCATCAGGTCATTCA	0.423																																																	0													91.0	83.0	86.0					5																	178359431		2203	4300	6503	SO:0001583	missense	0			AK025281	CCDS4440.1	5q35.3	2013-01-08	2012-11-27		ENSG00000198939	ENSG00000198939		"""Zinc fingers, C2H2-type"""	26138	protein-coding gene	gene with protein product			"""zinc finger protein 2 homolog (mouse)"""				Standard	NM_030613		Approved	FLJ21628, ZNF751	uc003mjn.1	Q6ZN57	OTTHUMG00000130885	ENST00000361362.2:c.1117C>A	5.37:g.178359431C>A	ENSP00000354453:p.Gln373Lys		A5PLN5|B7ZM23|Q9H6Z6	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q373K	ENST00000361362.2	37	c.1117	CCDS4440.1	5	.	.	.	.	.	.	.	.	.	.	c	11.60	1.687311	0.29962	.	.	ENSG00000198939	ENST00000361362;ENST00000520301;ENST00000523286;ENST00000503510	T;T;T;T	0.07216	3.21;3.21;3.21;3.21	4.96	2.06	0.26882	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.287220	0.18862	N	0.129084	T	0.03220	0.0094	N	0.02697	-0.525	0.24982	N	0.991594	P	0.40282	0.711	B	0.35688	0.208	T	0.38351	-0.9665	10	0.56958	D	0.05	-3.2993	8.4086	0.32629	0.0:0.4773:0.4359:0.0868	.	373	Q6ZN57	ZFP2_HUMAN	K	373	ENSP00000354453:Q373K;ENSP00000430980:Q373K;ENSP00000430531:Q373K;ENSP00000438114:Q373K	ENSP00000354453:Q373K	Q	+	1	0	ZFP2	178292037	0.003000	0.15002	0.997000	0.53966	0.970000	0.65996	0.617000	0.24359	0.667000	0.31107	0.655000	0.94253	CAG	ZFP2	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198939		0.423	ZFP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP2	HGNC	protein_coding	OTTHUMT00000253470.2	-	0.00	38	0	C	NM_030613		178359431	+1	tier1	-	no_errors	ENST00000361362	ensembl	human	known	74_37	missense	7.27	51	4	SNP	0.997	A
ZMYM4	9202	genome.wustl.edu	37	1	35859302	35859302	+	Missense_Mutation	SNP	C	C	T			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr1:35859302C>T	ENST00000314607.6	+	18	2953	c.2873C>T	c.(2872-2874)tCt>tTt	p.S958F	ZMYM4_ENST00000373297.2_Missense_Mutation_p.S869F	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	958					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AAAGCCACCTCTTGCAAACCA	0.398																																																	0													121.0	109.0	113.0					1																	35859302		2203	4300	6503	SO:0001583	missense	0			AB007885	CCDS389.1	1p34-p32	2013-01-08	2005-12-19	2005-12-19	ENSG00000146463	ENSG00000146463		"""Zinc fingers, MYM type"""	13055	protein-coding gene	gene with protein product		613568	"""zinc finger protein 262"""	ZNF262		10449923	Standard	NM_005095		Approved	KIAA0425, ZNF198L3, MYM	uc001byt.3	Q5VZL5	OTTHUMG00000004241	ENST00000314607.6:c.2873C>T	1.37:g.35859302C>T	ENSP00000322915:p.Ser958Phe		A0JP19|A0JP20|O43308|Q5T5E1|Q5T5E2|Q7L3Q4	Missense_Mutation	SNP	pfam_DUF3504,pfam_Znf_MYM,smart_TRASH_dom	p.S958F	ENST00000314607.6	37	c.2873	CCDS389.1	1	.	.	.	.	.	.	.	.	.	.	C	19.42	3.824380	0.71143	.	.	ENSG00000146463	ENST00000314607;ENST00000373297	T;T	0.28255	1.64;1.62	5.28	5.28	0.74379	.	0.057040	0.64402	D	0.000001	T	0.41003	0.1140	M	0.67397	2.05	0.51767	D	0.999933	B	0.28998	0.23	B	0.34590	0.186	T	0.36696	-0.9737	10	0.62326	D	0.03	-11.1525	19.2728	0.94018	0.0:1.0:0.0:0.0	.	958	Q5VZL5	ZMYM4_HUMAN	F	958;869	ENSP00000322915:S958F;ENSP00000362394:S869F	ENSP00000322915:S958F	S	+	2	0	ZMYM4	35631889	1.000000	0.71417	0.987000	0.45799	0.990000	0.78478	3.810000	0.55613	2.651000	0.90000	0.585000	0.79938	TCT	ZMYM4	-	NULL	ENSG00000146463		0.398	ZMYM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMYM4	HGNC	protein_coding	OTTHUMT00000012207.3	-	0.00	49	0	C	NM_005095		35859302	+1	tier1	-	no_errors	ENST00000314607	ensembl	human	known	74_37	missense	42.48	65	48	SNP	0.988	T
ZNF257	113835	genome.wustl.edu	37	19	22270892	22270892	+	Silent	SNP	A	A	C			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr19:22270892A>C	ENST00000594947.1	+	4	484	c.340A>C	c.(340-342)Aga>Cga	p.R114R	ZNF257_ENST00000600162.1_3'UTR	NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	114					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				TTTACAATTAAGAAAGGGCTG	0.358																																																	0													76.0	82.0	80.0					19																	22270892		2162	4273	6435	SO:0001819	synonymous_variant	0			AF070651	CCDS46030.1	19p12	2014-02-14			ENSG00000197134	ENSG00000197134		"""Zinc fingers, C2H2-type"", ""-"""	13498	protein-coding gene	gene with protein product		606957				10585455	Standard	NM_033468		Approved	BMZF-4	uc010ecx.3	Q9Y2Q1	OTTHUMG00000182927	ENST00000594947.1:c.340A>C	19.37:g.22270892A>C			B3KPS4|E9PG34|Q8NE34	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R114	ENST00000594947.1	37	c.340	CCDS46030.1	19																																																																																			ZNF257	-	NULL	ENSG00000197134		0.358	ZNF257-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF257	HGNC	protein_coding	OTTHUMT00000464382.1	-	0.00	62	0	A			22270892	+1	tier1	-	no_errors	ENST00000594947	ensembl	human	known	74_37	silent	82.19	12	60	SNP	0.005	C
ZNF271	10778	genome.wustl.edu	37	18	32887284	32887284	+	RNA	SNP	C	C	T			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr18:32887284C>T	ENST00000399070.3	+	0	1678					NR_024565.1|NR_024566.1		Q14591	ZN271_HUMAN	zinc finger protein 271						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(3)|lung(9)	12						AGCCTTCAGTCAGAGTTCTGA	0.393																																																	0													59.0	59.0	59.0					18																	32887284		2203	4300	6503			0			X78930		18q12.2	2013-04-03			ENSG00000257267	ENSG00000257267		"""Zinc fingers, C2H2-type"""	13065	other	unknown		604754				7865130, 11777961	Standard	NR_024565		Approved	HZF7, ZNFEB	uc002kyp.4	Q14591	OTTHUMG00000132563		18.37:g.32887284C>T			B3KN34|Q96T29|Q9BSX2|Q9UN33|Q9Y5B7	RNA	SNP	-	NULL	ENST00000399070.3	37	NULL		18																																																																																			ZNF271	-	-	ENSG00000257267		0.393	ZNF271-002	KNOWN	basic	processed_transcript	ZNF271	HGNC	pseudogene	OTTHUMT00000255767.2	-	0.00	33	0	C	NR_024565		32887284	+1	tier1	-	no_errors	ENST00000399070	ensembl	human	known	74_37	rna	65.71	12	23	SNP	0.086	T
ZNF287	57336	genome.wustl.edu	37	17	16456371	16456371	+	Missense_Mutation	SNP	A	A	C			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr17:16456371A>C	ENST00000395824.1	-	6	1702	c.1085T>G	c.(1084-1086)cTt>cGt	p.L362R	ZNF287_ENST00000395825.3_Missense_Mutation_p.L362R			Q9HBT7	ZN287_HUMAN	zinc finger protein 287	355					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine biosynthetic process (GO:0042035)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		CTCTCCAGGAAGTATTTTCCT	0.383																																																	0													97.0	94.0	95.0					17																	16456371		2203	4300	6503	SO:0001583	missense	0			AF217227	CCDS11179.2	17p11.2	2013-01-09			ENSG00000141040	ENSG00000141040		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13502	protein-coding gene	gene with protein product							Standard	NM_020653		Approved	ZKSCAN13, ZSCAN45	uc002gqi.2	Q9HBT7	OTTHUMG00000058993	ENST00000395824.1:c.1085T>G	17.37:g.16456371A>C	ENSP00000379168:p.Leu362Arg		Q6IAG1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.L362R	ENST00000395824.1	37	c.1085	CCDS11179.2	17	.	.	.	.	.	.	.	.	.	.	A	4.533	0.098962	0.08681	.	.	ENSG00000141040	ENST00000395825;ENST00000395824	T;T	0.15372	2.43;2.43	5.31	-1.34	0.09143	.	1.153740	0.06444	N	0.726458	T	0.08980	0.0222	N	0.08118	0	0.27356	N	0.956119	B	0.20671	0.047	B	0.19148	0.024	T	0.38045	-0.9679	10	0.72032	D	0.01	.	6.8847	0.24193	0.5057:0.0856:0.0:0.4086	.	355	Q9HBT7	ZN287_HUMAN	R	362	ENSP00000379169:L362R;ENSP00000379168:L362R	ENSP00000379168:L362R	L	-	2	0	ZNF287	16397096	1.000000	0.71417	0.231000	0.23993	0.019000	0.09904	1.146000	0.31589	-0.388000	0.07797	-0.336000	0.08194	CTT	ZNF287	-	NULL	ENSG00000141040		0.383	ZNF287-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF287	HGNC	protein_coding	OTTHUMT00000130504.1	-	0.00	22	0	A			16456371	-1	tier1	-	no_errors	ENST00000395824	ensembl	human	known	74_37	missense	69.23	8	18	SNP	0.914	C
ZNF425	155054	genome.wustl.edu	37	7	148809229	148809229	+	Splice_Site	SNP	C	C	A			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr7:148809229C>A	ENST00000378061.2	-	3	436	c.304G>T	c.(304-306)Gat>Tat	p.D102Y	ZNF425_ENST00000484196.1_5'UTR	NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	102					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			TCTTACTCACCAAAACATAGC	0.343																																																	0													196.0	176.0	183.0					7																	148809229		2203	4300	6503	SO:0001630	splice_region_variant	0			AK056498	CCDS34773.1	7q36.1	2013-01-08			ENSG00000204947	ENSG00000204947		"""Zinc fingers, C2H2-type"", ""-"""	20690	protein-coding gene	gene with protein product							Standard	NM_001001661		Approved		uc003wfj.3	Q6IV72	OTTHUMG00000158971	ENST00000378061.2:c.304+1G>T	7.37:g.148809229C>A			B3KPM1|Q08AG3	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel	p.D102Y	ENST00000378061.2	37	c.304	CCDS34773.1	7	.	.	.	.	.	.	.	.	.	.	C	16.19	3.052140	0.55218	.	.	ENSG00000204947	ENST00000378061;ENST00000483014	T;T	0.07688	3.17;4.9	2.82	0.925	0.19424	.	.	.	.	.	T	0.02807	0.0084	N	0.08118	0	0.09310	N	1	P	0.41214	0.742	B	0.26416	0.069	T	0.40421	-0.9564	9	0.59425	D	0.04	.	3.2496	0.06810	0.2568:0.5945:0.0:0.1487	.	102	Q6IV72	ZN425_HUMAN	Y	102;124	ENSP00000367300:D102Y;ENSP00000420379:D124Y	ENSP00000367300:D102Y	D	-	1	0	ZNF425	148440162	0.045000	0.20229	0.221000	0.23827	0.891000	0.51852	1.269000	0.33074	0.000000	0.14550	0.650000	0.86243	GAT	ZNF425	-	NULL	ENSG00000204947		0.343	ZNF425-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF425	HGNC	protein_coding	OTTHUMT00000352726.1	-	0.00	32	0	C	XM_088140	Missense_Mutation	148809229	-1	tier1	-	no_errors	ENST00000378061	ensembl	human	known	74_37	missense	7.84	47	4	SNP	0.030	A
ZNF536	9745	genome.wustl.edu	37	19	30935745	30935745	+	Missense_Mutation	SNP	C	C	A			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr19:30935745C>A	ENST00000355537.3	+	2	1423	c.1276C>A	c.(1276-1278)Ctg>Atg	p.L426M		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	426					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CCACGCCAACCTGTACTCCAG	0.647																																																	0													34.0	36.0	35.0					19																	30935745		2203	4298	6501	SO:0001583	missense	0				CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.1276C>A	19.37:g.30935745C>A	ENSP00000347730:p.Leu426Met		A2RU18	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L426M	ENST00000355537.3	37	c.1276	CCDS32984.1	19	.	.	.	.	.	.	.	.	.	.	C	8.006	0.756524	0.15846	.	.	ENSG00000198597	ENST00000355537	T	0.10960	2.82	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.20333	0.0489	L	0.32530	0.975	0.40151	D	0.97694	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	T	0.00839	-1.1545	10	0.66056	D	0.02	-19.2934	9.5782	0.39470	0.0:0.8376:0.0:0.1624	.	426;426	A7E228;O15090	.;ZN536_HUMAN	M	426	ENSP00000347730:L426M	ENSP00000347730:L426M	L	+	1	2	ZNF536	35627585	1.000000	0.71417	1.000000	0.80357	0.830000	0.47004	2.033000	0.41136	2.535000	0.85469	0.591000	0.81541	CTG	ZNF536	-	NULL	ENSG00000198597		0.647	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF536	HGNC	protein_coding	OTTHUMT00000459667.2	-	0.00	51	0	C	NM_014717		30935745	+1	tier1	-	no_errors	ENST00000355537	ensembl	human	known	74_37	missense	6.45	58	4	SNP	1.000	A
ZNF624	57547	genome.wustl.edu	37	17	16525650	16525650	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr17:16525650G>T	ENST00000311331.7	-	6	2641	c.2550C>A	c.(2548-2550)agC>agA	p.S850R		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	850					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S850S(1)		breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		GTACAGTAAGGCTCGAACTAC	0.348																																					NSCLC(186;1023 2134 13330 38202 39800)												1	Substitution - coding silent(1)	ovary(1)											134.0	136.0	135.0					17																	16525650		2203	4300	6503	SO:0001583	missense	0			AB037770	CCDS11180.1	17p11.2	2013-01-08			ENSG00000197566	ENSG00000197566		"""Zinc fingers, C2H2-type"", ""-"""	29254	protein-coding gene	gene with protein product						10718198	Standard	NM_020787		Approved	KIAA1349	uc010cpi.2	Q9P2J8	OTTHUMG00000058996	ENST00000311331.7:c.2550C>A	17.37:g.16525650G>T	ENSP00000310472:p.Ser850Arg		Q3SY62|Q3SY63|Q6ZN27	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S850R	ENST00000311331.7	37	c.2550	CCDS11180.1	17	.	.	.	.	.	.	.	.	.	.	G	5.433	0.264995	0.10294	.	.	ENSG00000197566	ENST00000311331	T	0.15834	2.39	2.97	2.97	0.34412	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.14787	0.0357	M	0.66506	2.035	0.26567	N	0.973628	P	0.38922	0.651	B	0.33196	0.159	T	0.09796	-1.0658	9	0.21014	T	0.42	.	6.0333	0.19692	0.1385:0.0:0.8615:0.0	.	850	Q9P2J8	ZN624_HUMAN	R	850	ENSP00000310472:S850R	ENSP00000310472:S850R	S	-	3	2	ZNF624	16466375	0.102000	0.21896	1.000000	0.80357	0.993000	0.82548	0.511000	0.22739	1.983000	0.57843	0.563000	0.77884	AGC	ZNF624	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197566		0.348	ZNF624-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF624	HGNC	protein_coding	OTTHUMT00000130512.3		0.00	35	0	G	XM_047617		16525650	-1			no_errors	ENST00000311331	ensembl	human	known	74_37	missense	5.77	49	3	SNP	1.000	T
ZNF682	91120	genome.wustl.edu	37	19	20135200	20135200	+	Intron	DEL	A	A	-			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr19:20135200delA	ENST00000397165.2	-	2	164				ZNF682_ENST00000596019.1_Intron|AC006539.1_ENST00000578235.1_RNA|ZNF682_ENST00000595736.1_Intron|ZNF682_ENST00000358523.5_Intron|ZNF682_ENST00000397162.1_Intron|ZNF682_ENST00000597972.1_Frame_Shift_Del_p.C3fs|ZNF682_ENST00000593468.1_Intron	NM_033196.2	NP_149973.1	O95780	ZN682_HUMAN	zinc finger protein 682						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	14						AAAACAAAACAAAACATAGTG	0.413																																																	0													43.0	45.0	44.0					19																	20135200		2160	4284	6444	SO:0001627	intron_variant	0			AC006539	CCDS42533.1, CCDS42534.1	19p12	2014-02-13			ENSG00000197124	ENSG00000197124		"""Zinc fingers, C2H2-type"", ""-"""	28857	protein-coding gene	gene with protein product							Standard	NM_033196		Approved	BC39498_3	uc002noq.3	O95780	OTTHUMG00000182650	ENST00000397165.2:c.4-15T>-	19.37:g.20135200delA			B3KU64|E9PFJ5|Q96JV9	Frame_Shift_Del	DEL	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.C3fs	ENST00000397165.2	37	c.7	CCDS42533.1	19																																																																																			ZNF682	-	superfamily_Krueppel-associated_box	ENSG00000197124		0.413	ZNF682-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF682	HGNC	protein_coding	OTTHUMT00000462888.1		0.00	24	0	A	NM_033196		20135200	-1	tier1		no_errors	ENST00000597972	ensembl	human	putative	74_37	frame_shift_del	8.00	23	2	DEL	0.362	-
ZNF676	163223	genome.wustl.edu	37	19	22363727	22363727	+	Missense_Mutation	SNP	G	G	T	rs375422919		TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr19:22363727G>T	ENST00000397121.2	-	3	1109	c.792C>A	c.(790-792)agC>agA	p.S264R		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	264					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				GGGTTGAGACGCTACTAAATC	0.398																																																	0													94.0	100.0	98.0					19																	22363727		2158	4273	6431	SO:0001583	missense	0			AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"""Zinc fingers, C2H2-type"""	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.792C>A	19.37:g.22363727G>T	ENSP00000380310:p.Ser264Arg		A8MVX5	Missense_Mutation	SNP	pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S264R	ENST00000397121.2	37	c.792	CCDS42539.1	19	.	.	.	.	.	.	.	.	.	.	.	0.001	-5.137384	0.00000	.	.	ENSG00000196109	ENST00000397121	T	0.18657	2.2	0.81	-1.62	0.08372	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10121	0.0248	N	0.20530	0.585	0.09310	N	1	B	0.30236	0.274	B	0.33042	0.157	T	0.26780	-1.0093	9	0.16420	T	0.52	.	1.5496	0.02572	0.1694:0.3244:0.34:0.1662	.	264	Q8N7Q3	ZN676_HUMAN	R	264	ENSP00000380310:S264R	ENSP00000380310:S264R	S	-	3	2	ZNF676	22155567	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.700000	0.00389	-2.883000	0.00318	-2.850000	0.00103	AGC	ZNF676	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196109		0.398	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF676	HGNC	protein_coding	OTTHUMT00000464392.1		0.00	29	0	G	NM_001001411		22363727	-1			no_errors	ENST00000397121	ensembl	human	known	74_37	missense	6.45	29	2	SNP	0.000	T
ZNF676	163223	genome.wustl.edu	37	19	22363736	22363737	+	Missense_Mutation	DNP	TC	TC	AG	rs559970266|rs572031376	byFrequency	TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	T|C	T|C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr19:22363736_22363737TC>AG	ENST00000397121.2	-	3	1099_1100	c.782_783GA>CT	c.(781-783)gGA>gCT	p.G261A		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	261					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				CGCTACTAAATCCTTTGCCACA	0.391																																																	0																																										SO:0001583	missense	0			AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"""Zinc fingers, C2H2-type"""	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.782_783delinsAG	19.37:g.22363736_22363737delinsAG	ENSP00000380310:p.Gly261Ala		A8MVX5	Silent|Missense_Mutation	SNP	pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G261|p.G261A	ENST00000397121.2	37	c.783|c.782	CCDS42539.1	19																																																																																			ZNF676	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196109		0.391	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF676	HGNC	protein_coding	OTTHUMT00000464392.1	-	0.00	28	0	T|C	NM_001001411		22363736|22363737	-1	tier1	-	no_errors	ENST00000397121	ensembl	human	known	74_37	silent|missense	13.16	33	5	SNP	0.028|0.018	A|G
ZSCAN23	222696	genome.wustl.edu	37	6	28402405	28402405	+	Missense_Mutation	SNP	T	T	A			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr6:28402405T>A	ENST00000289788.4	-	4	1152	c.1007A>T	c.(1006-1008)aAt>aTt	p.N336I	ZSCAN23_ENST00000486481.1_5'Flank	NM_001012455.1	NP_001012458.1	Q3MJ62	ZSC23_HUMAN	zinc finger and SCAN domain containing 23	336					transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|prostate(1)|stomach(2)	4						ATTGCACTGATTGCACTGGTA	0.468																																																	0													106.0	92.0	96.0					6																	28402405		692	1591	2283	SO:0001583	missense	0			AK092117	CCDS47393.1	6p21.33	2013-01-08	2007-02-20	2007-02-20	ENSG00000187987	ENSG00000187987		"""-"", ""Zinc fingers, C2H2-type"""	21193	protein-coding gene	gene with protein product			"""zinc finger protein 453"", ""zinc finger protein 390"""	ZNF453, ZNF390			Standard	NM_001012455		Approved	dJ29K1.3.1	uc003nli.4	Q3MJ62	OTTHUMG00000016346	ENST00000289788.4:c.1007A>T	6.37:g.28402405T>A	ENSP00000289788:p.Asn336Ile		Q96KV9	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.N336I	ENST00000289788.4	37	c.1007	CCDS47393.1	6	.	.	.	.	.	.	.	.	.	.	T	14.38	2.518234	0.44763	.	.	ENSG00000187987	ENST00000289788	T	0.07567	3.18	3.93	-5.78	0.02362	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	1.875910	0.02724	N	0.114289	T	0.03305	0.0096	L	0.58101	1.795	0.09310	N	1	B	0.22909	0.077	B	0.29267	0.1	T	0.37079	-0.9721	10	0.38643	T	0.18	.	9.2986	0.37831	0.0:0.5986:0.1459:0.2555	.	336	Q3MJ62	ZSC23_HUMAN	I	336	ENSP00000289788:N336I	ENSP00000289788:N336I	N	-	2	0	ZSCAN23	28510384	0.000000	0.05858	0.001000	0.08648	0.965000	0.64279	-1.490000	0.02304	-1.459000	0.01914	-0.256000	0.11100	AAT	ZSCAN23	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000187987		0.468	ZSCAN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSCAN23	HGNC	protein_coding	OTTHUMT00000043751.2	-	0.00	40	0	T	XM_167147		28402405	-1	tier1	-	no_errors	ENST00000289788	ensembl	human	known	74_37	missense	45.76	32	27	SNP	0.000	A
