#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
A4GALT	53947	genome.wustl.edu	37	22	43089313	43089313	+	Silent	SNP	G	G	A			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr22:43089313G>A	ENST00000401850.1	-	2	1134	c.645C>T	c.(643-645)gtC>gtT	p.V215V	A4GALT_ENST00000465765.2_5'Flank|A4GALT_ENST00000249005.2_Silent_p.V215V|A4GALT_ENST00000381278.3_Silent_p.V215V			Q9NPC4	A4GAT_HUMAN	alpha 1,4-galactosyltransferase	215					globoside biosynthetic process (GO:0001576)|glycosphingolipid biosynthetic process (GO:0006688)|plasma membrane organization (GO:0007009)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	galactosyltransferase activity (GO:0008378)|lactosylceramide 4-alpha-galactosyltransferase activity (GO:0050512)|toxic substance binding (GO:0015643)			NS(1)|central_nervous_system(2)|large_intestine(6)|skin(1)|urinary_tract(1)	11						CGCCGTTGAGGACGTAGCGGG	0.612																																																	0													46.0	37.0	40.0					22																	43089313		2203	4299	6502	SO:0001819	synonymous_variant	0				CCDS14041.1	22q13.2	2014-07-18	2008-07-31		ENSG00000128274	ENSG00000128274	2.4.1.228		18149	protein-coding gene	gene with protein product	"""Gb3 synthase"", ""CD77 synthase"", ""globotriaosylceramide synthase"", ""lactosylceramide 4-alpha-galactosyltransferase"""	607922	"""alpha 1,4-galactosyltransferase (globotriaosylceramide synthase, P blood group)"""			10854428	Standard	XM_005261643		Approved	A14GALT, Gb3S, P(k)	uc003bdb.3	Q9NPC4	OTTHUMG00000150744	ENST00000401850.1:c.645C>T	22.37:g.43089313G>A			B2R7C4|Q9P1X5	Silent	SNP	pfam_A1-4-GlycosylTfrase_dom,pfam_GlycoTrfase_DXD_sugar-bd_CS	p.V215	ENST00000401850.1	37	c.645	CCDS14041.1	22																																																																																			A4GALT	-	NULL	ENSG00000128274		0.612	A4GALT-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	A4GALT	HGNC	protein_coding	OTTHUMT00000319917.1	-	0.00	20	0	G	NM_017436		43089313	-1	tier1	-	no_errors	ENST00000249005	ensembl	human	known	74_37	silent	61.54	15	24	SNP	0.987	A
AASS	10157	genome.wustl.edu	37	7	121753716	121753716	+	Nonsense_Mutation	SNP	C	C	A			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr7:121753716C>A	ENST00000393376.1	-	9	1197	c.1102G>T	c.(1102-1104)Gag>Tag	p.E368*	AASS_ENST00000473553.1_Intron|AASS_ENST00000417368.2_Nonsense_Mutation_p.E368*			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	368	Lysine-ketoglutarate reductase.				cellular nitrogen compound metabolic process (GO:0034641)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity (GO:0047131)|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity (GO:0047130)	p.E368*(1)		autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54						GTTGTACACTCAGTCATAAAC	0.383																																																	1	Substitution - Nonsense(1)	kidney(1)											145.0	123.0	130.0					7																	121753716		2203	4300	6503	SO:0001587	stop_gained	0			AF229180	CCDS5783.1	7q31.3	2010-12-14			ENSG00000008311	ENSG00000008311			17366	protein-coding gene	gene with protein product		605113				10775527	Standard	NM_005763		Approved	LORSDH, LKRSDH	uc003vkb.3	Q9UDR5	OTTHUMG00000157058	ENST00000393376.1:c.1102G>T	7.37:g.121753716C>A	ENSP00000377040:p.Glu368*		O95462	Nonsense_Mutation	SNP	pfam_Saccharopine_DH/HSpermid_syn,pfam_AlaDH/PNT_NAD(H)-bd,pfam_AlaDH/PNT_N	p.E368*	ENST00000393376.1	37	c.1102	CCDS5783.1	7	.	.	.	.	.	.	.	.	.	.	C	37	6.533277	0.97641	.	.	ENSG00000008311	ENST00000393376;ENST00000417368	.	.	.	4.92	4.92	0.64577	.	0.143948	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	-16.5948	18.6547	0.91448	0.0:1.0:0.0:0.0	.	.	.	.	X	368	.	ENSP00000351834:E368X	E	-	1	0	AASS	121540952	1.000000	0.71417	0.884000	0.34674	0.898000	0.52572	5.852000	0.69488	2.714000	0.92807	0.655000	0.94253	GAG	AASS	-	pfam_AlaDH/PNT_NAD(H)-bd	ENSG00000008311		0.383	AASS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	AASS	HGNC	protein_coding	OTTHUMT00000347300.1		0.00	16	0	C	NM_005763		121753716	-1			no_errors	ENST00000393376	ensembl	human	known	74_37	nonsense	6.90	27	2	SNP	1.000	A
ABCG8	64241	genome.wustl.edu	37	2	44104795	44104795	+	Missense_Mutation	SNP	G	G	A	rs200005264		TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr2:44104795G>A	ENST00000272286.2	+	12	1942	c.1852G>A	c.(1852-1854)Ggg>Agg	p.G618R		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	618	ABC transmembrane type-2.				ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|phospholipid transport (GO:0015914)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|protein heterodimerization activity (GO:0046982)|sterol transporter activity (GO:0015248)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	AATGCCTCTCGGGAACCTCAC	0.517											OREG0014582	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													99.0	102.0	101.0					2																	44104795		2203	4300	6503	SO:0001583	missense	0			AF320294	CCDS1815.1	2p21	2012-03-14	2008-07-31		ENSG00000143921	ENSG00000143921		"""ATP binding cassette transporters / subfamily G"""	13887	protein-coding gene	gene with protein product	"""gallbladder disease 4"", ""sterolin 2"""	605460	"""ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2)"""			11099417, 17626266	Standard	NM_022437		Approved	GBD4	uc002rtq.3	Q9H221	OTTHUMG00000128756	ENST00000272286.2:c.1852G>A	2.37:g.44104795G>A	ENSP00000272286:p.Gly618Arg	921	Q53QN8	Missense_Mutation	SNP	pfam_ABC_2_trans,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,pfscan_ABC_transporter-like	p.G618R	ENST00000272286.2	37	c.1852	CCDS1815.1	2	.	.	.	.	.	.	.	.	.	.	G	14.19	2.462835	0.43736	.	.	ENSG00000143921	ENST00000272286	D	0.88896	-2.44	5.08	5.08	0.68730	.	0.225318	0.42420	D	0.000718	D	0.88142	0.6357	M	0.80616	2.505	0.51233	D	0.999917	P;P	0.47841	0.901;0.841	B;B	0.38985	0.287;0.15	D	0.87323	0.2319	10	0.23302	T	0.38	.	15.5909	0.76526	0.0:0.1377:0.8623:0.0	.	617;618	Q9H221-2;Q9H221	.;ABCG8_HUMAN	R	618	ENSP00000272286:G618R	ENSP00000272286:G618R	G	+	1	0	ABCG8	43958299	1.000000	0.71417	0.770000	0.31555	0.005000	0.04900	4.047000	0.57383	2.348000	0.79779	0.591000	0.81541	GGG	ABCG8	-	NULL	ENSG00000143921		0.517	ABCG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCG8	HGNC	protein_coding	OTTHUMT00000250671.1	-	0.00	24	0	G	NM_022437		44104795	+1	tier1	rs200005264	no_errors	ENST00000272286	ensembl	human	known	74_37	missense	18.18	45	10	SNP	0.787	A
ABCA12	26154	genome.wustl.edu	37	2	215821415	215821415	+	Missense_Mutation	SNP	C	C	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr2:215821415C>T	ENST00000272895.7	-	42	6424	c.6205G>A	c.(6205-6207)Gct>Act	p.A2069T	AC072062.1_ENST00000607412.1_RNA|ABCA12_ENST00000389661.4_Missense_Mutation_p.A1751T	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	2069					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		AGAGATACAGCGCCTAGGTTG	0.368																																					Ovarian(66;664 1488 5121 34295)												0													106.0	105.0	105.0					2																	215821415		2203	4300	6503	SO:0001583	missense	0			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.6205G>A	2.37:g.215821415C>T	ENSP00000272895:p.Ala2069Thr		Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.A2069T	ENST00000272895.7	37	c.6205	CCDS33372.1	2	.	.	.	.	.	.	.	.	.	.	C	17.17	3.320595	0.60634	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.87809	-2.3;-2.3	5.69	5.69	0.88448	.	0.000000	0.64402	D	0.000007	D	0.93795	0.8016	M	0.77406	2.37	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.94002	0.7276	10	0.87932	D	0	.	19.4063	0.94648	0.0:1.0:0.0:0.0	.	2069;1751	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	T	2069;1751	ENSP00000272895:A2069T;ENSP00000374312:A1751T	ENSP00000272895:A2069T	A	-	1	0	ABCA12	215529660	1.000000	0.71417	0.963000	0.40424	0.010000	0.07245	5.405000	0.66351	2.690000	0.91761	0.655000	0.94253	GCT	ABCA12	-	NULL	ENSG00000144452		0.368	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA12	HGNC	protein_coding	OTTHUMT00000337111.1	-	0.00	21	0	C	NM_173076		215821415	-1	tier1	-	no_errors	ENST00000272895	ensembl	human	known	74_37	missense	33.78	49	25	SNP	1.000	T
ACTA2	59	genome.wustl.edu	37	10	90697872	90697872	+	Silent	SNP	G	G	A	rs200213764		TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr10:90697872G>A	ENST00000458208.1	-	8	1410	c.936C>T	c.(934-936)gcC>gcT	p.A312A	ACTA2-AS1_ENST00000596007.1_RNA|ACTA2_ENST00000480297.1_5'Flank|ACTA2-AS1_ENST00000437930.4_RNA|ACTA2_ENST00000224784.6_Silent_p.A312A|STAMBPL1_ENST00000371927.3_Intron	NM_001141945.1	NP_001135417.1	P62736	ACTA_HUMAN	actin, alpha 2, smooth muscle, aorta	312					glomerular mesangial cell development (GO:0072144)|muscle contraction (GO:0006936)|regulation of blood pressure (GO:0008217)|response to virus (GO:0009615)|vascular smooth muscle contraction (GO:0014829)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|smooth muscle contractile fiber (GO:0030485)	ATP binding (GO:0005524)|protein kinase binding (GO:0019901)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(2)	17		Colorectal(252;0.0161)		Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018)		GCATTCGGTCGGCAATGCCAG	0.522																																																	0													223.0	180.0	194.0					10																	90697872		2203	4300	6503	SO:0001819	synonymous_variant	0			X13839	CCDS7392.1	10q23.31	2014-09-17			ENSG00000107796	ENSG00000107796			130	protein-coding gene	gene with protein product		102620				2398629	Standard	NM_001141945		Approved	ACTSA	uc001kfp.3	P62736	OTTHUMG00000018700	ENST00000458208.1:c.936C>T	10.37:g.90697872G>A			B2R8A4|P03996|P04108|Q6FI19	Silent	SNP	pfam_Actin-related,smart_Actin-related,prints_Actin-related	p.A312	ENST00000458208.1	37	c.936	CCDS7392.1	10																																																																																			ACTA2	-	pfam_Actin-related,smart_Actin-related	ENSG00000107796		0.522	ACTA2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTA2	HGNC	protein_coding	OTTHUMT00000049264.1		0.00	24	0	G	NM_001613		90697872	-1			no_errors	ENST00000224784	ensembl	human	known	74_37	silent	5.48	69	4	SNP	0.016	A
ACTN2	88	genome.wustl.edu	37	1	236908054	236908054	+	Missense_Mutation	SNP	G	G	T	rs376923220		TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr1:236908054G>T	ENST00000366578.4	+	12	1550	c.1384G>T	c.(1384-1386)Gca>Tca	p.A462S	ACTN2_ENST00000492634.1_3'UTR|ACTN2_ENST00000542672.1_Missense_Mutation_p.A462S|ACTN2_ENST00000546208.1_5'UTR	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	462					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|focal adhesion assembly (GO:0048041)|microspike assembly (GO:0030035)|muscle filament sliding (GO:0030049)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of protein localization to cell surface (GO:2000009)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein homotetramerization (GO:0051289)|regulation of apoptotic process (GO:0042981)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	actin filament (GO:0005884)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|cytoskeletal protein binding (GO:0008092)|FATZ binding (GO:0051373)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|protein dimerization activity (GO:0046983)|structural constituent of muscle (GO:0008307)|thyroid hormone receptor coactivator activity (GO:0030375)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			GGAGCAGATCGCAGCCATCGC	0.652																																																	0								G	SER/ALA	0,4406		0,0,2203	60.0	52.0	55.0		1384	5.2	0.2	1		55	1,8599	1.2+/-3.3	0,1,4299	no	missense	ACTN2	NM_001103.2	99	0,1,6502	TT,TG,GG		0.0116,0.0,0.0077	possibly-damaging	462/895	236908054	1,13005	2203	4300	6503	SO:0001583	missense	0			BC047901	CCDS1613.1, CCDS60455.1, CCDS73053.1	1q42-q43	2014-09-17			ENSG00000077522	ENSG00000077522		"""EF-hand domain containing"""	164	protein-coding gene	gene with protein product		102573				1339456	Standard	NM_001103		Approved		uc001hyf.2	P35609	OTTHUMG00000040059	ENST00000366578.4:c.1384G>T	1.37:g.236908054G>T	ENSP00000355537:p.Ala462Ser		B1ANE4|B2RCS5|Q86TF4|Q86TI8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,pfscan_CH-domain,pfscan_EF_hand_dom	p.A462S	ENST00000366578.4	37	c.1384	CCDS1613.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.688210	0.96784	0.0	1.16E-4	ENSG00000077522	ENST00000542672;ENST00000366578;ENST00000545611	T;T	0.50001	0.76;0.76	5.17	5.17	0.71159	.	0.046626	0.85682	N	0.000000	T	0.72661	0.3488	M	0.83953	2.67	0.80722	D	1	D;B;D;P	0.69078	0.994;0.077;0.997;0.863	D;B;D;D	0.91635	0.999;0.384;0.999;0.988	T	0.76168	-0.3058	10	0.59425	D	0.04	.	19.0257	0.92931	0.0:0.0:1.0:0.0	.	247;462;232;462	B7Z4K1;B2RCS5;Q59FD9;P35609	.;.;.;ACTN2_HUMAN	S	462;462;231	ENSP00000443495:A462S;ENSP00000355537:A462S	ENSP00000355537:A462S	A	+	1	0	ACTN2	234974677	1.000000	0.71417	0.237000	0.24090	0.981000	0.71138	9.844000	0.99494	2.546000	0.85860	0.563000	0.77884	GCA	ACTN2	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000077522		0.652	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACTN2	HGNC	protein_coding	OTTHUMT00000096628.1	-	0.00	13	0	G	NM_001103		236908054	+1	tier1	-	no_errors	ENST00000366578	ensembl	human	known	74_37	missense	31.25	33	15	SNP	1.000	T
ADAMTS9	56999	genome.wustl.edu	37	3	64672417	64672417	+	Missense_Mutation	SNP	C	C	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr3:64672417C>T	ENST00000498707.1	-	2	685	c.343G>A	c.(343-345)Gcc>Acc	p.A115T	ADAMTS9_ENST00000459780.1_Missense_Mutation_p.A115T|ADAMTS9-AS2_ENST00000485174.1_RNA|ADAMTS9_ENST00000295903.4_Missense_Mutation_p.A115T|ADAMTS9-AS2_ENST00000474768.1_RNA|ADAMTS9-AS2_ENST00000460833.1_RNA|ADAMTS9-AS2_ENST00000481312.1_RNA	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	115					glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.A115T(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CCGGCATTGGCGGTGAGATTA	0.572																																																	1	Substitution - Missense(1)	central_nervous_system(1)											50.0	51.0	51.0					3																	64672417		2203	4300	6503	SO:0001583	missense	0			AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13202	protein-coding gene	gene with protein product		605421	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"""			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.343G>A	3.37:g.64672417C>T	ENSP00000418735:p.Ala115Thr		A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Missense_Mutation	SNP	pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.A115T	ENST00000498707.1	37	c.343	CCDS2903.1	3	.	.	.	.	.	.	.	.	.	.	C	19.55	3.847865	0.71603	.	.	ENSG00000163638	ENST00000295903;ENST00000498707;ENST00000459780	T;T;T	0.06294	3.32;3.32;3.32	5.02	5.02	0.67125	Peptidase M12B, propeptide (1);	0.183913	0.37577	N	0.002035	T	0.20414	0.0491	L	0.50333	1.59	0.47153	D	0.99933	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.76071	0.987;0.961;0.979	T	0.00763	-1.1576	10	0.32370	T	0.25	.	18.7173	0.91680	0.0:1.0:0.0:0.0	.	115;115;115	B7ZVX9;Q9P2N4-2;Q9P2N4	.;.;ATS9_HUMAN	T	115	ENSP00000295903:A115T;ENSP00000418735:A115T;ENSP00000419217:A115T	ENSP00000295903:A115T	A	-	1	0	ADAMTS9	64647457	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	3.790000	0.55461	2.514000	0.84764	0.491000	0.48974	GCC	ADAMTS9	-	pfam_Peptidase_M12B_N	ENSG00000163638		0.572	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS9	HGNC	protein_coding	OTTHUMT00000351891.1		0.00	14	0	C			64672417	-1			no_errors	ENST00000498707	ensembl	human	known	74_37	missense	5.00	57	3	SNP	1.000	T
ADCY2	108	genome.wustl.edu	37	5	7802384	7802384	+	Silent	SNP	G	G	A	rs201615098		TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr5:7802384G>A	ENST00000338316.4	+	21	2771	c.2682G>A	c.(2680-2682)ccG>ccA	p.P894P	ADCY2_ENST00000537121.1_Silent_p.P714P	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	894					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)	p.P894P(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						CCTCCATTCCGGATTTCAAAG	0.473																																																	1	Substitution - coding silent(1)	large_intestine(1)						G		0,4406		0,0,2203	79.0	78.0	79.0		2682	0.3	1.0	5		79	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ADCY2	NM_020546.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		894/1092	7802384	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.2682G>A	5.37:g.7802384G>A			B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Silent	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.P894	ENST00000338316.4	37	c.2682	CCDS3872.2	5																																																																																			ADCY2	-	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	ENSG00000078295		0.473	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY2	HGNC	protein_coding	OTTHUMT00000206930.2		0.00	9	0	G	NM_020546		7802384	+1			no_errors	ENST00000338316	ensembl	human	known	74_37	silent	5.19	73	4	SNP	0.961	A
AGPAT4	56895	genome.wustl.edu	37	6	161653235	161653235	+	Missense_Mutation	SNP	G	G	A	rs115239818	byFrequency	TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr6:161653235G>A	ENST00000320285.4	-	2	223	c.11C>T	c.(10-12)gCg>gTg	p.A4V	AGPAT4_ENST00000366905.3_Missense_Mutation_p.A4V|AGPAT4_ENST00000366908.5_Missense_Mutation_p.A4V|AGPAT4_ENST00000366906.5_Intron|AGPAT4_ENST00000366911.5_Missense_Mutation_p.A4V|AGPAT4_ENST00000457520.2_Missense_Mutation_p.A4V	NM_020133.2	NP_064518.1	Q9NRZ5	PLCD_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 4	4					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)			endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2)	25		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)		CAGCAGTCCCGCGAGGTCCAT	0.488													G|||	15	0.00299521	0.0098	0.0	5008	,	,		17256	0.0		0.0	False		,,,				2504	0.002																0								G	VAL/ALA	16,4390	23.3+/-48.9	0,16,2187	115.0	97.0	103.0		11	-5.1	0.0	6	dbSNP_132	103	2,8598	2.2+/-6.3	0,2,4298	yes	missense	AGPAT4	NM_020133.2	64	0,18,6485	AA,AG,GG		0.0233,0.3631,0.1384	benign	4/379	161653235	18,12988	2203	4300	6503	SO:0001583	missense	0			AF156776	CCDS5280.1	6q25.3	2013-02-05	2013-02-05		ENSG00000026652	ENSG00000026652	2.3.1.51	"""1-acylglycerol-3-phosphate O-acyltransferases"""	20885	protein-coding gene	gene with protein product	"""lysophosphatidic acid acyltransferase, delta"""	614795	"""1-acylglycerol-3-phosphate O-acyltransferase 4 (lysophosphatidic acid acyltransferase, delta)"""				Standard	XM_005267052		Approved	LPAAT-delta, dJ473J16.2	uc003qtr.1	Q9NRZ5	OTTHUMG00000015966	ENST00000320285.4:c.11C>T	6.37:g.161653235G>A	ENSP00000314036:p.Ala4Val		B4DSF9|Q5TEF0	Missense_Mutation	SNP	pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase	p.A4V	ENST00000320285.4	37	c.11	CCDS5280.1	6	11	0.005036630036630037	11	0.022357723577235773	0	0.0	0	0.0	0	0.0	G	0.013	-1.616531	0.00828	0.003631	2.33E-4	ENSG00000026652	ENST00000366911;ENST00000320285;ENST00000457520;ENST00000366908;ENST00000366905	T	0.28666	1.6	5.38	-5.06	0.02946	.	1.552850	0.03632	N	0.238051	T	0.03011	0.0089	N	0.00926	-1.1	0.09310	N	1	B;B;B;B	0.06786	0.0;0.001;0.0;0.0	B;B;B;B	0.04013	0.001;0.0;0.0;0.0	T	0.25398	-1.0133	10	0.16420	T	0.52	-2.1322	14.9327	0.70929	0.4856:0.0:0.5144:0.0	.	4;4;4;4	B4DIY1;B4DHC0;B4DSF9;Q9NRZ5	.;.;.;PLCD_HUMAN	V	4	ENSP00000314036:A4V	ENSP00000314036:A4V	A	-	2	0	AGPAT4	161573225	0.000000	0.05858	0.000000	0.03702	0.269000	0.26545	-0.124000	0.10595	-1.285000	0.02387	-1.952000	0.00485	GCG	AGPAT4	-	NULL	ENSG00000026652		0.488	AGPAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGPAT4	HGNC	protein_coding	OTTHUMT00000042983.1		0.00	10	0	G	NM_020133		161653235	-1			no_errors	ENST00000320285	ensembl	human	known	74_37	missense	13.64	19	3	SNP	0.001	A
AHCYL1	10768	genome.wustl.edu	37	1	110527695	110527695	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr1:110527695G>T	ENST00000369799.5	+	1	388	c.21G>T	c.(19-21)atG>atT	p.M7I	AHCYL1_ENST00000475081.1_3'UTR	NM_001242673.1|NM_001242674.1|NM_006621.5	NP_001229602.1|NP_001229603.1|NP_006612.2	O43865	SAHH2_HUMAN	adenosylhomocysteinase-like 1	7					mRNA polyadenylation (GO:0006378)|one-carbon metabolic process (GO:0006730)|positive regulation of sodium ion transport (GO:0010765)|protein export from nucleus (GO:0006611)|regulation of anion transport (GO:0044070)|regulation of ion transmembrane transporter activity (GO:0032412)|regulation of mRNA 3'-end processing (GO:0031440)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	adenosylhomocysteinase activity (GO:0004013)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)	18		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0259)|Colorectal(144;0.123)|all cancers(265;0.134)|Epithelial(280;0.141)|LUSC - Lung squamous cell carcinoma(189;0.143)		CTGACGCGATGCCGCTGCCCG	0.731																																																	0													17.0	16.0	16.0					1																	110527695		2175	4287	6462	SO:0001583	missense	0			U82761	CCDS818.1, CCDS55620.1	1p13	2014-06-12	2009-06-12		ENSG00000168710	ENSG00000168710			344	protein-coding gene	gene with protein product	"""inositol 1,4,5-trisphosphate receptor-binding protein"", ""protein phosphatase 1, regulatory subunit 78"""	607826	"""S-adenosylhomocysteine hydrolase-like 1"""			11904675, 16754674, 12525476	Standard	NM_006621		Approved	XPVKONA, IRBIT, PPP1R78	uc001dyx.3	O43865	OTTHUMG00000011652	ENST00000369799.5:c.21G>T	1.37:g.110527695G>T	ENSP00000358814:p.Met7Ile		B4E168|Q2TAJ6|Q502W8|Q5VSM0|Q6P171|Q96PK4|Q9UG84	Missense_Mutation	SNP	pfam_Adenosylhomocysteinase,pfam_Ado_hCys_hydrolase_NAD-bd,pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_IlvN,pirsf_Adenosylhomocysteinase,tigrfam_Adenosylhomocysteinase	p.M7I	ENST00000369799.5	37	c.21	CCDS818.1	1	.	.	.	.	.	.	.	.	.	.	G	13.27	2.187091	0.38609	.	.	ENSG00000168710	ENST00000369799	T	0.75589	-0.95	4.96	4.96	0.65561	.	0.456213	0.22220	N	0.062965	T	0.47340	0.1440	N	0.22421	0.69	0.80722	D	1	B	0.10296	0.003	B	0.04013	0.001	T	0.47522	-0.9111	10	0.35671	T	0.21	-15.6437	13.7147	0.62689	0.0:0.0:1.0:0.0	.	7	O43865	SAHH2_HUMAN	I	7	ENSP00000358814:M7I	ENSP00000358814:M7I	M	+	3	0	AHCYL1	110329218	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.027000	0.57239	2.272000	0.75746	0.655000	0.94253	ATG	AHCYL1	-	NULL	ENSG00000168710		0.731	AHCYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AHCYL1	HGNC	protein_coding	OTTHUMT00000032243.1		0.00	9	0	G			110527695	+1			no_errors	ENST00000369799	ensembl	human	known	74_37	missense	12.07	51	7	SNP	1.000	T
TBC1D17	79735	genome.wustl.edu	37	19	50381506	50381506	+	Intron	SNP	G	G	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr19:50381506G>T	ENST00000221543.5	+	2	419				AKT1S1_ENST00000391831.1_5'Flank|TBC1D17_ENST00000535102.2_Intron|AKT1S1_ENST00000391835.1_5'Flank|AKT1S1_ENST00000391833.1_5'Flank|TBC1D17_ENST00000598789.1_Intron|AKT1S1_ENST00000391832.3_5'Flank|AKT1S1_ENST00000344175.5_5'Flank|AKT1S1_ENST00000482622.1_5'UTR|AKT1S1_ENST00000391834.2_5'Flank	NM_024682.2	NP_078958	Q9HA65	TBC17_HUMAN	TBC1 domain family, member 17						autophagy (GO:0006914)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	Rab GTPase activator activity (GO:0005097)			NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		AAGGTGCGCTGGGAGGGAGCA	0.622																																																	0													33.0	27.0	29.0					19																	50381506		2181	4264	6445	SO:0001627	intron_variant	0			AK090606	CCDS12785.1, CCDS54294.1	19q13.33	2013-07-09				ENSG00000104946			25699	protein-coding gene	gene with protein product						22854040	Standard	NM_024682		Approved	FLJ12168	uc002pqo.3	Q9HA65		ENST00000221543.5:c.120+8G>T	19.37:g.50381506G>T			B4DT12|B9A6L8|F5H1W7	RNA	SNP	-	NULL	ENST00000221543.5	37	NULL	CCDS12785.1	19																																																																																			AKT1S1	-	-	ENSG00000204673		0.622	TBC1D17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKT1S1	HGNC	protein_coding	OTTHUMT00000466404.1	-	0.00	12	0	G	NM_024682		50381506	-1	tier1	-	no_errors	ENST00000482622	ensembl	human	known	74_37	rna	20.59	27	7	SNP	0.000	T
ALK	238	genome.wustl.edu	37	2	29754905	29754905	+	Missense_Mutation	SNP	G	G	A			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr2:29754905G>A	ENST00000389048.3	-	4	1936	c.1030C>T	c.(1030-1032)Cac>Tac	p.H344Y	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	344	MAM 1. {ECO:0000255|PROSITE- ProRule:PRU00128}.				activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	AGTGTGCAGTGCTCACTGCTG	0.582			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																														yes	Dom	yes	Familial neuroblastoma	2	2p23	238	anaplastic lymphoma kinase (Ki-1)		"""L, E, M"""	0													131.0	115.0	120.0					2																	29754905		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"""CD molecules"""	427	protein-coding gene	gene with protein product		105590	"""anaplastic lymphoma kinase (Ki-1)"""			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.1030C>T	2.37:g.29754905G>A	ENSP00000373700:p.His344Tyr		Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_MAM_dom,superfamily_Kinase-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_MAM_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.H344Y	ENST00000389048.3	37	c.1030	CCDS33172.1	2	.	.	.	.	.	.	.	.	.	.	G	15.25	2.778969	0.49891	.	.	ENSG00000171094	ENST00000389048	T	0.02158	4.42	6.08	5.2	0.72013	Concanavalin A-like lectin/glucanase (1);MAM domain (2);	.	.	.	.	T	0.02342	0.0072	N	0.14661	0.345	0.80722	D	1	B	0.30236	0.274	B	0.38428	0.273	T	0.64909	-0.6296	8	.	.	.	.	12.9137	0.58195	0.0:0.0:0.8381:0.1619	.	344	Q9UM73	ALK_HUMAN	Y	344	ENSP00000373700:H344Y	.	H	-	1	0	ALK	29608409	1.000000	0.71417	1.000000	0.80357	0.785000	0.44390	2.226000	0.42963	1.577000	0.49804	0.655000	0.94253	CAC	ALK	-	pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,pfscan_MAM_dom	ENSG00000171094		0.582	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALK	HGNC	protein_coding	OTTHUMT00000324994.1		0.00	8	0	G	NM_004304		29754905	-1			no_errors	ENST00000389048	ensembl	human	known	74_37	missense	20.69	22	6	SNP	1.000	A
AMY2A	279	genome.wustl.edu	37	1	104163266	104163266	+	Missense_Mutation	SNP	G	G	A	rs61814453	byFrequency	TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr1:104163266G>A	ENST00000414303.2	+	5	902	c.838G>A	c.(838-840)Gtt>Att	p.V280I		NM_000699.2	NP_000690.1	P04746	AMYP_HUMAN	amylase, alpha 2A (pancreatic)	280					carbohydrate catabolic process (GO:0016052)|carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|calcium ion binding (GO:0005509)|chloride ion binding (GO:0031404)			endometrium(3)|kidney(1)|large_intestine(5)|liver(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)	Acarbose(DB00284)|Icodextrin(DB00702)|Miglitol(DB00491)	ACTCGGCACAGTTATTCGCAA	0.393													.|||	622	0.124201	0.0514	0.111	5008	,	,		16567	0.1081		0.1551	False		,,,				2504	0.2168																0													18.0	17.0	17.0					1																	104163266		2120	4184	6304	SO:0001583	missense	0			BC007060	CCDS783.1	1p21.1	2012-10-02	2007-05-03		ENSG00000243480	ENSG00000243480	3.2.1.1		477	protein-coding gene	gene with protein product		104650	"""amylase, alpha 2A; pancreatic"""	AMY2		3260028	Standard	NM_000699		Approved		uc001dut.3	P04746	OTTHUMG00000011023	ENST00000414303.2:c.838G>A	1.37:g.104163266G>A	ENSP00000397582:p.Val280Ile		B9EJG1|Q9UBH3	Missense_Mutation	SNP	pfam_Glyco_hydro_13_cat_dom,pfam_A-amylase_b_C,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom,smart_A-amylase_b_C,prints_Alpha_amylase	p.V280I	ENST00000414303.2	37	c.838	CCDS783.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	11.52|11.52	1.661728|1.661728	0.29515|0.29515	.|.	.|.	ENSG00000243480|ENSG00000243480	ENST00000423678|ENST00000414303;ENST00000393932	.|D	.|0.98455	.|-4.94	3.13|3.13	3.13|3.13	0.36017|0.36017	.|Glycoside hydrolase, subgroup, catalytic domain (1);Glycosyl hydrolase, family 13, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycosyl hydrolase, family 13, subfamily, catalytic domain (1);	.|0.201916	.|0.42548	.|D	.|0.000684	D|D	0.95768|0.95768	0.8623|0.8623	M|M	0.67700|0.67700	2.07|2.07	0.20196|0.20196	P|P	0.9999271308|0.9999271308	.|B	.|0.19331	.|0.035	.|B	.|0.23419	.|0.046	D|D	0.96042|0.96042	0.9025|0.9025	4|9	.|0.56958	.|D	.|0.05	.|.	14.3403|14.3403	0.66622|0.66622	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|280	.|P04746	.|AMYP_HUMAN	N|I	201|280	.|ENSP00000397582:V280I	.|ENSP00000377509:V280I	S|V	+|+	2|1	0|0	AMY2A|AMY2A	103964789|103964789	1.000000|1.000000	0.71417|0.71417	0.989000|0.989000	0.46669|0.46669	0.977000|0.977000	0.68977|0.68977	4.248000|4.248000	0.58760|0.58760	1.723000|1.723000	0.51488|0.51488	0.305000|0.305000	0.20034|0.20034	AGT|GTT	AMY2A	-	pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom	ENSG00000243480		0.393	AMY2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMY2A	HGNC	protein_coding	OTTHUMT00000030315.1	-	0.00	25	0	G	NM_000699		104163266	+1	tier1	rs141685988	no_errors	ENST00000414303	ensembl	human	known	74_37	missense	13.50	312	49	SNP	1.000	A
ANKFY1	51479	genome.wustl.edu	37	17	4071177	4071177	+	Missense_Mutation	SNP	T	T	C			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr17:4071177T>C	ENST00000341657.4	-	25	3441	c.3406A>G	c.(3406-3408)Aaa>Gaa	p.K1136E	ANKFY1_ENST00000570535.1_Missense_Mutation_p.K1178E|CYB5D2_ENST00000573984.1_Intron|ANKFY1_ENST00000574367.1_Missense_Mutation_p.K1137E	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	1136					endosomal vesicle fusion (GO:0034058)|endosome localization (GO:0032439)|Golgi to lysosome transport (GO:0090160)|positive regulation of pinocytosis (GO:0048549)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|macropinosome (GO:0044354)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol phosphate binding (GO:1901981)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						GTCGAGCATTTATGGCAAAGA	0.478																																																	0													65.0	69.0	68.0					17																	4071177		1928	4140	6068	SO:0001583	missense	0			AB033081	CCDS42236.1, CCDS58502.1	17p13.3	2013-01-10			ENSG00000185722	ENSG00000185722		"""Zinc fingers, FYVE domain containing"", ""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	20763	protein-coding gene	gene with protein product		607927				10940552, 17273843	Standard	NM_016376		Approved	ANKHZN, KIAA1255, ZFYVE14, BTBD23	uc002fxn.3	Q9P2R3	OTTHUMG00000177727	ENST00000341657.4:c.3406A>G	17.37:g.4071177T>C	ENSP00000343362:p.Lys1136Glu		A8KA65|Q5RKV4|Q9ULG5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Znf_FYVE,pfam_BTB_POZ,superfamily_Ankyrin_rpt-contain_dom,superfamily_BTB/POZ_fold,superfamily_Znf_FYVE_PHD,smart_BTB/POZ-like,smart_Ankyrin_rpt,smart_Znf_FYVE,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like,pfscan_Znf_FYVE-rel,prints_Ankyrin_rpt	p.K1178E	ENST00000341657.4	37	c.3532		17	.	.	.	.	.	.	.	.	.	.	T	17.65	3.442199	0.63067	.	.	ENSG00000185722	ENST00000341657;ENST00000535427	.	.	.	4.73	4.73	0.59995	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE-type (2);Zinc finger, FYVE-related (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	T	0.59307	0.2184	L	0.61218	1.895	0.80722	D	1	P;P;P;P	0.48503	0.89;0.865;0.837;0.911	B;P;B;P	0.45610	0.291;0.487;0.355;0.475	T	0.62728	-0.6793	9	0.44086	T	0.13	-19.0914	13.8471	0.63474	0.0:0.0:0.0:1.0	.	1078;1136;1137;1178	F5H754;Q9P2R3;Q9P2R3-2;Q9P2R3-4	.;ANFY1_HUMAN;.;.	E	1137;1078	.	ENSP00000343362:K1137E	K	-	1	0	ANKFY1	4017926	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.793000	0.62474	2.122000	0.65172	0.460000	0.39030	AAA	ANKFY1	-	pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel	ENSG00000185722		0.478	ANKFY1-008	KNOWN	basic|appris_candidate	protein_coding	ANKFY1	HGNC	protein_coding	OTTHUMT00000438702.1		0.00	13	0	T	NM_016376		4071177	-1			no_errors	ENST00000570535	ensembl	human	known	74_37	missense	8.33	44	4	SNP	1.000	C
ANKRD24	170961	genome.wustl.edu	37	19	4217407	4217407	+	Silent	SNP	C	C	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr19:4217407C>T	ENST00000600132.1	+	18	2526	c.2250C>T	c.(2248-2250)gcC>gcT	p.A750A	ANKRD24_ENST00000318934.4_Silent_p.A750A|ANKRD24_ENST00000262970.5_Silent_p.A840A	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	750										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		tggaggcggccctggggaagt	0.731																																																	0													5.0	6.0	5.0					19																	4217407		1601	3330	4931	SO:0001819	synonymous_variant	0			AB075861	CCDS45925.1	19p13.3	2013-01-10				ENSG00000089847		"""Ankyrin repeat domain containing"""	29424	protein-coding gene	gene with protein product						11853319	Standard	NM_133475		Approved	KIAA1981	uc010dtt.1	Q8TF21		ENST00000600132.1:c.2250C>T	19.37:g.4217407C>T			O75268|O95781	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.A750	ENST00000600132.1	37	c.2250	CCDS45925.1	19																																																																																			ANKRD24	-	NULL	ENSG00000089847		0.731	ANKRD24-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANKRD24	HGNC	protein_coding	OTTHUMT00000458188.1	-	0.00	8	0	C	XM_114000		4217407	+1	tier1	-	no_errors	ENST00000318934	ensembl	human	known	74_37	silent	64.15	19	34	SNP	0.087	T
ANKRD50	57182	genome.wustl.edu	37	4	125591185	125591185	+	Missense_Mutation	SNP	G	G	A			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr4:125591185G>A	ENST00000504087.1	-	4	4284	c.3247C>T	c.(3247-3249)Cgt>Tgt	p.R1083C	ANKRD50_ENST00000515641.1_Missense_Mutation_p.R904C	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	1083								p.R1083C(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						GCTGCAACACGCATAGCAGTG	0.418																																																	1	Substitution - Missense(1)	prostate(1)											89.0	87.0	88.0					4																	125591185		2203	4300	6503	SO:0001583	missense	0			AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458		"""Ankyrin repeat domain containing"""	29223	protein-coding gene	gene with protein product							Standard	NM_020337		Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.3247C>T	4.37:g.125591185G>A	ENSP00000425658:p.Arg1083Cys		A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.R1083C	ENST00000504087.1	37	c.3247	CCDS34060.1	4	.	.	.	.	.	.	.	.	.	.	G	17.41	3.382500	0.61845	.	.	ENSG00000151458	ENST00000504087;ENST00000515641	T;T	0.64085	-0.08;-0.08	5.51	4.65	0.58169	Ankyrin repeat-containing domain (4);	0.049734	0.85682	D	0.000000	T	0.68016	0.2955	L	0.29908	0.895	0.58432	D	0.999998	D	0.89917	1.0	D	0.79784	0.993	T	0.69566	-0.5111	10	0.49607	T	0.09	.	13.2518	0.60055	0.0:0.0:0.7022:0.2978	.	1083	Q9ULJ7	ANR50_HUMAN	C	1083;904	ENSP00000425658:R1083C;ENSP00000425355:R904C	ENSP00000425658:R1083C	R	-	1	0	ANKRD50	125810635	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	3.450000	0.52957	1.505000	0.48720	0.561000	0.74099	CGT	ANKRD50	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000151458		0.418	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD50	HGNC	protein_coding	OTTHUMT00000364775.1		0.00	14	0	G	NM_020337		125591185	-1			no_errors	ENST00000504087	ensembl	human	known	74_37	missense	5.71	33	2	SNP	1.000	A
AP4S1	11154	genome.wustl.edu	37	14	31554030	31554030	+	Intron	SNP	G	G	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr14:31554030G>T	ENST00000542754.2	+	5	699				AP4S1_ENST00000216366.4_Missense_Mutation_p.C141F|AP4S1_ENST00000334725.4_3'UTR|AP4S1_ENST00000313566.6_Intron|AP4S1_ENST00000554345.1_Missense_Mutation_p.C117F|AP4S1_ENST00000554609.1_Intron	NM_001128126.2|NM_001254728.1	NP_001121598.1|NP_001241657.1	Q9Y587	AP4S1_HUMAN	adaptor-related protein complex 4, sigma 1 subunit							coated pit (GO:0005905)|Golgi apparatus (GO:0005794)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			lung(1)	1	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.221)	GBM - Glioblastoma multiforme(265;0.00553)		CAGCAGACTTGCTTTTCTCCA	0.438																																					Pancreas(128;620 2365 4508 44145)												0													74.0	76.0	75.0					14																	31554030		2203	4300	6503	SO:0001627	intron_variant	0			AB030654	CCDS9642.1, CCDS45093.1, CCDS58309.1, CCDS58310.1	14q12	2012-06-29			ENSG00000100478	ENSG00000100478			575	protein-coding gene	gene with protein product		607243				10436028, 21620353	Standard	NM_007077		Approved	CLA20, AP47B, SPG52	uc001wqw.4	Q9Y587	OTTHUMG00000140202	ENST00000542754.2:c.306+4240G>T	14.37:g.31554030G>T			G3V2N8|Q6IAQ4|Q86U36|Q9BVE7	Missense_Mutation	SNP	pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_AP_complex_ssu	p.C141F	ENST00000542754.2	37	c.422	CCDS45093.1	14	.	.	.	.	.	.	.	.	.	.	G	13.26	2.184710	0.38609	.	.	ENSG00000100478	ENST00000216366;ENST00000554345	.	.	.	4.05	2.07	0.26955	.	6.477130	0.00718	N	0.000868	T	0.36908	0.0984	.	.	.	0.09310	N	0.999999	P;P	0.50528	0.828;0.936	B;P	0.44990	0.371;0.466	T	0.36648	-0.9739	8	0.33940	T	0.23	.	10.515	0.44885	0.0:0.4249:0.5751:0.0	.	117;141	G3V2N8;Q9Y587-2	.;.	F	141;117	.	ENSP00000216366:C141F	C	+	2	0	AP4S1	30623781	0.108000	0.22018	0.004000	0.12327	0.128000	0.20619	1.182000	0.32029	0.572000	0.29383	0.655000	0.94253	TGC	AP4S1	-	pirsf_AP_complex_ssu	ENSG00000100478		0.438	AP4S1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AP4S1	HGNC	protein_coding	OTTHUMT00000409723.1		0.00	22	0	G			31554030	+1			no_errors	ENST00000216366	ensembl	human	known	74_37	missense	6.67	56	4	SNP	0.005	T
ARHGEF25	115557	genome.wustl.edu	37	12	58009787	58009788	+	Frame_Shift_Ins	INS	-	-	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr12:58009787_58009788insT	ENST00000286494.4	+	13	1867_1868	c.1407_1408insT	c.(1408-1410)gacfs	p.D470fs	AC025165.8_ENST00000356672.3_RNA|AC025165.8_ENST00000444467.1_RNA|AC025165.8_ENST00000593846.1_RNA|ARHGEF25_ENST00000333972.7_Frame_Shift_Ins_p.D509fs|AC025165.8_ENST00000610219.1_RNA	NM_182947.3	NP_891992	Q86VW2	ARHGP_HUMAN	Rho guanine nucleotide exchange factor (GEF) 25	470	Sufficient to bind activated GNAQ.					cytosol (GO:0005829)|myofibril (GO:0030016)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						AGAGCCAACGGGACTTCCTCAA	0.574																																																	0																																										SO:0001589	frameshift_variant	0				CCDS8947.1, CCDS44931.1	12q13.3	2011-11-16			ENSG00000240771	ENSG00000240771		"""Rho guanine nucleotide exchange factors"""	30275	protein-coding gene	gene with protein product	"""RAC/CDC42 exchange factor"""	610215				12547822	Standard	NM_182947		Approved	GEFT, p63RhoGEF	uc009zpy.4	Q86VW2	OTTHUMG00000152516	Exception_encountered	12.37:g.58009787_58009788insT	ENSP00000286494:p.Asp470fs		A6NJH5|A9CQZ6|F8W7Z4|Q8WV84|Q96E63	Frame_Shift_Ins	INS	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.D508fs	ENST00000286494.4	37	c.1524_1525	CCDS8947.1	12																																																																																			ARHGEF25	-	NULL	ENSG00000240771		0.574	ARHGEF25-001	KNOWN	basic|CCDS	protein_coding	ARHGEF25	HGNC	protein_coding	OTTHUMT00000326561.1		0.00	10	0	-	NM_133483		58009788	+1	tier1		no_errors	ENST00000333972	ensembl	human	known	74_37	frame_shift_ins	29.41	12	5	INS	1.000:1.000	T
ARHGEF37	389337	genome.wustl.edu	37	5	148980732	148980732	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr5:148980732G>T	ENST00000333677.6	+	3	411	c.248G>T	c.(247-249)aGc>aTc	p.S83I		NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN	Rho guanine nucleotide exchange factor (GEF) 37	83	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.					cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						AAAGTGAACAGCAGATTCCTC	0.468																																																	0													109.0	110.0	109.0					5																	148980732		1964	4170	6134	SO:0001583	missense	0			BC041325	CCDS43385.1	5q33.1	2012-07-24			ENSG00000183111	ENSG00000183111		"""Rho guanine nucleotide exchange factors"""	34430	protein-coding gene	gene with protein product							Standard	XM_005268448		Approved	FLJ41603	uc003lra.1	A1IGU5	OTTHUMG00000163491	ENST00000333677.6:c.248G>T	5.37:g.148980732G>T	ENSP00000328083:p.Ser83Ile		Q6ZW51	Missense_Mutation	SNP	pfam_DH-domain,pfam_BAR_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,pfscan_DH-domain	p.S83I	ENST00000333677.6	37	c.248	CCDS43385.1	5	.	.	.	.	.	.	.	.	.	.	G	15.42	2.828273	0.50845	.	.	ENSG00000183111	ENST00000505810;ENST00000333677	T;T	0.65178	-0.14;-0.14	5.4	3.6	0.41247	Dbl homology (DH) domain (5);	0.240176	0.31872	U	0.006932	T	0.54759	0.1878	L	0.37697	1.125	0.38561	D	0.949703	P	0.43542	0.81	P	0.46629	0.522	T	0.54510	-0.8283	10	0.38643	T	0.18	.	8.4851	0.33067	0.1768:0.0:0.8232:0.0	.	83	A1IGU5	ARH37_HUMAN	I	83	ENSP00000425621:S83I;ENSP00000328083:S83I	ENSP00000328083:S83I	S	+	2	0	ARHGEF37	148960925	1.000000	0.71417	0.999000	0.59377	0.565000	0.35776	1.016000	0.29976	0.832000	0.34804	0.561000	0.74099	AGC	ARHGEF37	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	ENSG00000183111		0.468	ARHGEF37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF37	HGNC	protein_coding	OTTHUMT00000373763.1		0.00	10	0	G	NM_001001669		148980732	+1			no_errors	ENST00000333677	ensembl	human	known	74_37	missense	10.00	36	4	SNP	1.000	T
ARIH2	10425	genome.wustl.edu	37	3	48964987	48964987	+	5'UTR	SNP	C	C	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr3:48964987C>T	ENST00000356401.4	+	0	335				ARIH2_ENST00000490095.1_Intron|ARIH2_ENST00000449376.1_5'UTR	NM_006321.2	NP_006312.1	O95376	ARI2_HUMAN	ariadne RBR E3 ubiquitin protein ligase 2						developmental cell growth (GO:0048588)|hematopoietic stem cell proliferation (GO:0071425)|multicellular organismal development (GO:0007275)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|nucleic acid binding (GO:0003676)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)		TGGCTGGATGCTAAGATGTCA	0.458																																																	0													32.0	34.0	33.0					3																	48964987		2203	4300	6503	SO:0001623	5_prime_UTR_variant	0			AF099149	CCDS2780.1	3p21	2013-10-03	2013-10-03		ENSG00000177479	ENSG00000177479			690	protein-coding gene	gene with protein product	"""all-trans retinoic acid inducible RING finger"""	605615	"""ariadne (Drosophila) homolog 2"", ""ariadne homolog 2 (Drosophila)"""			10422847, 24058416	Standard	XM_005264798		Approved	TRIAD1	uc003cvb.3	O95376	OTTHUMG00000133547	ENST00000356401.4:c.-5C>T	3.37:g.48964987C>T			Q9HBZ6|Q9UEM9	RNA	SNP	-	NULL	ENST00000356401.4	37	NULL	CCDS2780.1	3																																																																																			ARIH2	-	-	ENSG00000177479		0.458	ARIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARIH2	HGNC	protein_coding	OTTHUMT00000257525.1	-	0.00	20	0	C	NM_006321		48964987	+1	tier1	-	no_errors	ENST00000463204	ensembl	human	known	74_37	rna	26.32	28	10	SNP	0.957	T
ASTN2	23245	genome.wustl.edu	37	9	119977005	119977005	+	Missense_Mutation	SNP	A	A	G			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr9:119977005A>G	ENST00000313400.4	-	3	747	c.647T>C	c.(646-648)cTg>cCg	p.L216P	ASTN2_ENST00000373996.3_Missense_Mutation_p.L216P|ASTN2_ENST00000361209.2_Missense_Mutation_p.L216P|ASTN2_ENST00000361477.3_5'UTR			O75129	ASTN2_HUMAN	astrotactin 2	216					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CAGCAGCAGCAGCGCGATGAG	0.607																																																	0													30.0	32.0	32.0					9																	119977005		2203	4298	6501	SO:0001583	missense	0			AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.647T>C	9.37:g.119977005A>G	ENSP00000314038:p.Leu216Pro		A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Missense_Mutation	SNP	pfam_MACPF,superfamily_Fibronectin_type3,smart_MACPF	p.L216P	ENST00000313400.4	37	c.647		9	.	.	.	.	.	.	.	.	.	.	A	21.9	4.220508	0.79464	.	.	ENSG00000148219	ENST00000313400;ENST00000373996;ENST00000361209	T;T;T	0.18810	2.29;2.29;2.19	5.41	5.41	0.78517	.	0.000000	0.56097	D	0.000023	T	0.32971	0.0847	L	0.27053	0.805	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.85130	0.997;0.997;0.988	T	0.04840	-1.0923	9	.	.	.	-13.0139	15.1153	0.72397	1.0:0.0:0.0:0.0	.	216;216;216	O75129-2;O75129;O75129-3	.;ASTN2_HUMAN;.	P	216	ENSP00000314038:L216P;ENSP00000363108:L216P;ENSP00000354504:L216P	.	L	-	2	0	ASTN2	119016826	1.000000	0.71417	0.860000	0.33809	0.991000	0.79684	9.296000	0.96104	2.055000	0.61198	0.533000	0.62120	CTG	ASTN2	-	NULL	ENSG00000148219		0.607	ASTN2-201	KNOWN	basic	protein_coding	ASTN2	HGNC	protein_coding			0.00	8	0	A	NM_014010		119977005	-1			no_errors	ENST00000313400	ensembl	human	known	74_37	missense	23.08	10	3	SNP	1.000	G
ATP2B2	491	genome.wustl.edu	37	3	10370804	10370804	+	Silent	SNP	G	G	A			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr3:10370804G>A	ENST00000352432.4	-	22	3495	c.3426C>T	c.(3424-3426)cgC>cgT	p.R1142R	ATP2B2_ENST00000360273.2_Silent_p.R1142R|ATP2B2_ENST00000343816.4_Silent_p.R1128R|ATP2B2_ENST00000383800.4_Silent_p.R1097R|MIR378B_ENST00000578876.1_RNA|ATP2B2_ENST00000467702.2_5'UTR|ATP2B2_ENST00000397077.1_Silent_p.R1097R			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	1142	Calmodulin-binding subdomain B. {ECO:0000250}.				auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CCTTCACGACGCGGATCTGCA	0.587																																					Ovarian(125;1619 1709 15675 19819 38835)												0													60.0	63.0	62.0					3																	10370804		2203	4300	6503	SO:0001819	synonymous_variant	0			X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"""ATPases / P-type"""	815	protein-coding gene	gene with protein product	"""plasma membrane Ca2+ pump 2"", ""plasma membrane calcium-transporting ATPase 2"""	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.3426C>T	3.37:g.10370804G>A			O00766|Q12994|Q16818	Silent	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.R1142	ENST00000352432.4	37	c.3426	CCDS33701.1	3																																																																																			ATP2B2	-	pfam_ATP_Ca_trans_C	ENSG00000157087		0.587	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	ATP2B2	HGNC	protein_coding	OTTHUMT00000250576.2	-	0.00	18	0	G	NM_001683		10370804	-1	tier1	-	no_errors	ENST00000352432	ensembl	human	known	74_37	silent	18.42	31	7	SNP	0.998	A
ATRNL1	26033	genome.wustl.edu	37	10	117704175	117704175	+	Missense_Mutation	SNP	C	C	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr10:117704175C>T	ENST00000355044.3	+	29	4151	c.4025C>T	c.(4024-4026)gCa>gTa	p.A1342V	ATRNL1_ENST00000303745.7_Missense_Mutation_p.A135V|ATRNL1_ENST00000423111.2_Missense_Mutation_p.A393V	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1342					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		CCAGGCCTTGCAATTGCCAGT	0.418																																																	0													74.0	77.0	76.0					10																	117704175		2203	4300	6503	SO:0001583	missense	0			AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.4025C>T	10.37:g.117704175C>T	ENSP00000347152:p.Ala1342Val		O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Missense_Mutation	SNP	pfam_Kelch_1,pfam_Kelch_2,pfam_Plexin_repeat,pfam_CUB_dom,pfam_EGF_extracell,superfamily_C-type_lectin_fold,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_EG-like_dom,smart_CUB_dom,smart_Plexin-like_fold,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin	p.A1342V	ENST00000355044.3	37	c.4025	CCDS7592.1	10	.	.	.	.	.	.	.	.	.	.	C	16.27	3.076758	0.55753	.	.	ENSG00000107518	ENST00000355044;ENST00000423111;ENST00000303745	T;T;T	0.48522	0.81;0.81;0.81	5.78	5.78	0.91487	.	0.109014	0.64402	D	0.000007	T	0.72095	0.3418	M	0.81112	2.525	0.48901	D	0.999722	B;D	0.63880	0.099;0.993	B;D	0.68192	0.032;0.956	T	0.73665	-0.3911	10	0.72032	D	0.01	-16.8459	20.3754	0.98918	0.0:1.0:0.0:0.0	.	393;1342	B4DH41;Q5VV63	.;ATRN1_HUMAN	V	1342;393;135	ENSP00000347152:A1342V;ENSP00000409624:A393V;ENSP00000307660:A135V	ENSP00000307660:A135V	A	+	2	0	ATRNL1	117694165	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	4.338000	0.59316	2.894000	0.99253	0.591000	0.81541	GCA	ATRNL1	-	NULL	ENSG00000107518		0.418	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATRNL1	HGNC	protein_coding	OTTHUMT00000050507.3		0.00	20	0	C	XM_049349		117704175	+1			no_errors	ENST00000355044	ensembl	human	known	74_37	missense	5.13	74	4	SNP	1.000	T
AURKA	6790	genome.wustl.edu	37	20	54961428	54961428	+	Missense_Mutation	SNP	G	G	C			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr20:54961428G>C	ENST00000347343.2	-	3	471	c.204C>G	c.(202-204)caC>caG	p.H68Q	AURKA_ENST00000395909.4_Missense_Mutation_p.H68Q|AURKA_ENST00000395915.3_Missense_Mutation_p.H68Q|AURKA_ENST00000395907.1_Missense_Mutation_p.H68Q|AURKA_ENST00000312783.6_Missense_Mutation_p.H68Q|AURKA_ENST00000395911.1_Missense_Mutation_p.H68Q|AURKA_ENST00000395914.1_Missense_Mutation_p.H68Q|AURKA_ENST00000371356.2_Missense_Mutation_p.H68Q|AURKA_ENST00000395913.3_Missense_Mutation_p.H68Q	NM_003600.2	NP_003591.2	O14965	AURKA_HUMAN	aurora kinase A	68					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|anterior/posterior axis specification (GO:0009948)|centrosome localization (GO:0051642)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic centrosome separation (GO:0007100)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein binding (GO:0032091)|negative regulation of spindle checkpoint (GO:0090233)|neuron projection extension (GO:1990138)|positive regulation of mitosis (GO:0045840)|positive regulation of oocyte maturation (GO:1900195)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein autophosphorylation (GO:0046777)|protein localization to centrosome (GO:0071539)|protein phosphorylation (GO:0006468)|regulation of centrosome cycle (GO:0046605)|regulation of protein stability (GO:0031647)|spindle assembly involved in female meiosis I (GO:0007057)|spindle stabilization (GO:0043146)	axon hillock (GO:0043203)|centrosome (GO:0005813)|cytosol (GO:0005829)|germinal vesicle (GO:0042585)|meiotic spindle (GO:0072687)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole centrosome (GO:0031616)	ATP binding (GO:0005524)|histone serine kinase activity (GO:0035174)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|lung(9)|ovary(2)|prostate(1)|skin(2)	22			Colorectal(105;0.202)			GAACCGGCTTGTGACTGGAGA	0.502																																					Melanoma(34;439 1292 51416 52695)|GBM(144;1525 2517 48902 51835)|Esophageal Squamous(191;569 2880 14195 30540)												0													142.0	130.0	134.0					20																	54961428		2203	4300	6503	SO:0001583	missense	0			BC001280	CCDS13451.1	20q13	2012-07-23	2003-07-21	2003-07-23	ENSG00000087586	ENSG00000087586		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	11393	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 47"", ""Aurora-A kinase"""	603072	"""serine/threonine kinase 15"", "" serine/threonine kinase 6"""	STK15, STK6		9174055, 9771714	Standard	NM_003600		Approved	BTAK, AurA, STK7, ARK1, PPP1R47, AIK	uc002xxi.1	O14965	OTTHUMG00000032796	ENST00000347343.2:c.204C>G	20.37:g.54961428G>C	ENSP00000216911:p.His68Gln		E1P5F9|O60445|O75873|Q9BQD6|Q9UPG5	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	p.H68Q	ENST00000347343.2	37	c.204	CCDS13451.1	20	.	.	.	.	.	.	.	.	.	.	G	0.012	-1.679013	0.00751	.	.	ENSG00000087586	ENST00000395909;ENST00000395914;ENST00000347343;ENST00000395915;ENST00000312783;ENST00000371356;ENST00000395913;ENST00000395911;ENST00000395907;ENST00000441357;ENST00000420474;ENST00000422322;ENST00000456249;ENST00000451915	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.68765	-0.08;-0.08;-0.08;-0.08;-0.08;-0.08;-0.08;-0.08;-0.35;0.11;2.87;2.7;2.6;2.36	3.8	-7.6	0.01303	.	0.753581	0.12256	N	0.485151	T	0.29652	0.0740	N	0.11201	0.11	0.09310	N	0.999999	B;B;B;B;B;B;B	0.10296	0.0;0.003;0.001;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B	0.08055	0.0;0.003;0.001;0.001;0.0;0.0;0.001	T	0.38607	-0.9653	10	0.07030	T	0.85	-7.1362	0.9661	0.01406	0.1714:0.3048:0.2077:0.3162	.	68;68;68;68;68;68;68	Q5QPD1;Q5QPD2;A3KFJ1;Q5QPD4;A3KFJ0;B2R6Z3;O14965	.;.;.;.;.;.;AURKA_HUMAN	Q	68	ENSP00000379245:H68Q;ENSP00000379250:H68Q;ENSP00000216911:H68Q;ENSP00000379251:H68Q;ENSP00000321591:H68Q;ENSP00000360407:H68Q;ENSP00000379249:H68Q;ENSP00000379247:H68Q;ENSP00000379243:H68Q;ENSP00000393452:H68Q;ENSP00000388073:H68Q;ENSP00000405042:H68Q;ENSP00000405170:H68Q;ENSP00000401358:H68Q	ENSP00000321591:H68Q	H	-	3	2	AURKA	54394835	0.003000	0.15002	0.000000	0.03702	0.010000	0.07245	-2.478000	0.00984	-2.725000	0.00387	-0.136000	0.14681	CAC	AURKA	-	NULL	ENSG00000087586		0.502	AURKA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AURKA	HGNC	protein_coding	OTTHUMT00000079804.3	-	0.00	25	0	G	NM_003600		54961428	-1	tier1	-	no_errors	ENST00000312783	ensembl	human	known	74_37	missense	18.57	57	13	SNP	0.001	C
AUTS2	26053	genome.wustl.edu	37	7	70254831	70254831	+	Missense_Mutation	SNP	C	C	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr7:70254831C>T	ENST00000342771.4	+	19	2950	c.2629C>T	c.(2629-2631)Cgg>Tgg	p.R877W	AUTS2_ENST00000406775.2_Missense_Mutation_p.R853W	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	877										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		TGAACAGATCCGGGCTCATCT	0.602																																																	0													63.0	63.0	63.0					7																	70254831		2203	4300	6503	SO:0001583	missense	0			AF326917	CCDS5539.1, CCDS47601.1, CCDS47602.1	7q11.22	2014-01-06			ENSG00000158321	ENSG00000158321			14262	protein-coding gene	gene with protein product		607270				12160723	Standard	XM_005250257		Approved	KIAA0442, FBRSL2	uc003tvw.4	Q8WXX7	OTTHUMG00000023865	ENST00000342771.4:c.2629C>T	7.37:g.70254831C>T	ENSP00000344087:p.Arg877Trp		A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	Missense_Mutation	SNP	prints_AUTS2	p.R877W	ENST00000342771.4	37	c.2629	CCDS5539.1	7	.	.	.	.	.	.	.	.	.	.	C	15.64	2.892354	0.52121	.	.	ENSG00000158321	ENST00000406775;ENST00000342771;ENST00000418686	T;T	0.37411	1.21;1.2	5.07	1.19	0.21007	.	0.044302	0.85682	D	0.000000	T	0.52725	0.1752	L	0.58510	1.815	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.997	T	0.45731	-0.9241	9	.	.	.	-21.8048	13.8688	0.63605	0.4588:0.5412:0.0:0.0	.	329;853;877	B4DLG0;Q8WXX7-2;Q8WXX7	.;.;AUTS2_HUMAN	W	853;877;157	ENSP00000385263:R853W;ENSP00000344087:R877W	.	R	+	1	2	AUTS2	69892767	0.999000	0.42202	0.991000	0.47740	0.893000	0.52053	0.948000	0.29096	-0.033000	0.13736	-0.262000	0.10625	CGG	AUTS2	-	NULL	ENSG00000158321		0.602	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AUTS2	HGNC	protein_coding	OTTHUMT00000251971.2	-	0.00	16	0	C			70254831	+1	tier1	-	no_errors	ENST00000342771	ensembl	human	known	74_37	missense	20.83	56	15	SNP	0.987	T
BAGE2	85319	genome.wustl.edu	37	21	11039406	11039406	+	RNA	SNP	T	T	C	rs8134740	byFrequency	TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr21:11039406T>C	ENST00000470054.1	-	0	797							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TCATTAGAAATCTGTTTTTCC	0.299																																																	0																																												0			AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11039406T>C			A8K925|Q08ER0	RNA	SNP	-	NULL	ENST00000470054.1	37	NULL		21																																																																																			BAGE2	-	-	ENSG00000187172		0.299	BAGE2-001	KNOWN	basic	processed_transcript	BAGE2	HGNC	pseudogene	OTTHUMT00000157417.3	-	0.00	42	0	T	NM_182482		11039406	-1	tier1	rs8134740	no_errors	ENST00000470054	ensembl	human	known	74_37	rna	5.20	164	9	SNP	0.934	C
BAP1	8314	genome.wustl.edu	37	3	52439267	52439267	+	Silent	SNP	G	G	A			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr3:52439267G>A	ENST00000460680.1	-	11	1446	c.975C>T	c.(973-975)tcC>tcT	p.S325S	BAP1_ENST00000296288.5_Silent_p.S307S	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	0					anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.A323fs*71(1)|p.P324fs*7(1)		NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		GAGGGCTGTGGGATGGGGCTT	0.602			"""N, Mis, F, S, O"""		"""uveal melanoma, breast, NSCLC, RCC"""	"""mesothelioma, uveal melanoma"""																															GBM(101;493 1458 7992 21037 25532)			Rec	yes		3	3p21.31-p21.2	8314	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)		E	2	Deletion - Frameshift(2)	eye(1)|pleura(1)											116.0	121.0	119.0					3																	52439267		2203	4300	6503	SO:0001819	synonymous_variant	0			AF045581	CCDS2853.1	3p21.31-p21.2	2014-09-17			ENSG00000163930	ENSG00000163930			950	protein-coding gene	gene with protein product		603089				9528852	Standard	NM_004656		Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	Q92560	OTTHUMG00000158392	ENST00000460680.1:c.975C>T	3.37:g.52439267G>A			B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Silent	SNP	pfam_Peptidase_C12,prints_Peptidase_C12	p.S325	ENST00000460680.1	37	c.975	CCDS2853.1	3																																																																																			BAP1	-	NULL	ENSG00000163930		0.602	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAP1	HGNC	protein_coding	OTTHUMT00000350895.1	-	0.00	13	0	G			52439267	-1	tier1	-	no_errors	ENST00000460680	ensembl	human	known	74_37	silent	18.60	35	8	SNP	0.839	A
BMS1P8	653557	genome.wustl.edu	37	16	33497230	33497230	+	RNA	SNP	A	A	C	rs28409390	byFrequency	TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr16:33497230A>C	ENST00000565156.1	-	0	604									BMS1 pseudogene 8																		CACTATTACCATTTTTTGGTG	0.254																																																	0																																												0					16p11.2	2013-09-20			ENSG00000260518	ENSG00000260518			49152	pseudogene	pseudogene							Standard	NG_011420		Approved				OTTHUMG00000176352		16.37:g.33497230A>C				RNA	SNP	-	NULL	ENST00000565156.1	37	NULL		16																																																																																			BMS1P8	-	-	ENSG00000260518		0.254	BMS1P8-003	KNOWN	basic	processed_transcript	BMS1P8	HGNC	pseudogene	OTTHUMT00000431810.1	-	0.00	12	0	A			33497230	-1	tier1	rs28409390	no_errors	ENST00000565156	ensembl	human	known	74_37	rna	26.42	39	14	SNP	0.001	C
BMS1P8	653557	genome.wustl.edu	37	16	33497373	33497373	+	RNA	SNP	G	G	C	rs62029824	byFrequency	TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr16:33497373G>C	ENST00000565156.1	-	0	461									BMS1 pseudogene 8																		TAGAGCACAGGCTTCATCTCC	0.418																																																	0																																												0					16p11.2	2013-09-20			ENSG00000260518	ENSG00000260518			49152	pseudogene	pseudogene							Standard	NG_011420		Approved				OTTHUMG00000176352		16.37:g.33497373G>C				RNA	SNP	-	NULL	ENST00000565156.1	37	NULL		16																																																																																			BMS1P8	-	-	ENSG00000260518		0.418	BMS1P8-003	KNOWN	basic	processed_transcript	BMS1P8	HGNC	pseudogene	OTTHUMT00000431810.1	-	0.00	22	0	G			33497373	-1	tier1	rs62029824	no_errors	ENST00000565156	ensembl	human	known	74_37	rna	23.66	71	22	SNP	0.011	C
BOLA3	388962	genome.wustl.edu	37	2	74362706	74362706	+	3'UTR	SNP	C	C	A			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr2:74362706C>A	ENST00000327428.5	-	0	457				BOLA3_ENST00000295326.4_Silent_p.L83L	NM_212552.2	NP_997717.2	Q53S33	BOLA3_HUMAN	bolA family member 3							extracellular region (GO:0005576)				large_intestine(1)|lung(1)	2						AGCATCTATGCAGCCAGGGCG	0.408																																																	0													187.0	162.0	170.0					2																	74362706		2203	4300	6503	SO:0001624	3_prime_UTR_variant	0			BC017744	CCDS33224.1, CCDS33225.1	2p13.1	2013-09-02	2013-09-02		ENSG00000163170	ENSG00000163170			24415	protein-coding gene	gene with protein product		613183	"""bolA-like 3 (E. coli)"", ""bolA homolog 3 (E. coli)"""			14718656	Standard	NM_001035505		Approved		uc002skc.1	Q53S33	OTTHUMG00000152834	ENST00000327428.5:c.*14G>T	2.37:g.74362706C>A			G3XAB0	Silent	SNP	NULL	p.L83	ENST00000327428.5	37	c.249	CCDS33225.1	2																																																																																			BOLA3	-	NULL	ENSG00000163170		0.408	BOLA3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	BOLA3	HGNC	protein_coding	OTTHUMT00000328207.2		0.00	12	0	C	NM_212552		74362706	-1			no_errors	ENST00000295326	ensembl	human	known	74_37	silent	10.17	53	6	SNP	0.005	A
MALRD1	340895	genome.wustl.edu	37	10	19777950	19777950	+	Missense_Mutation	SNP	G	G	A	rs552047496		TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr10:19777950G>A	ENST00000454679.2	+	15	2975	c.2975G>A	c.(2974-2976)cGc>cAc	p.R992H	C10orf112_ENST00000492202.1_Intron|C10orf112_ENST00000455457.2_5'Flank			Q5VYJ5	MALR1_HUMAN		992					cholesterol homeostasis (GO:0042632)|negative regulation of bile acid biosynthetic process (GO:0070858)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				breast(1)|lung(2)	3						ACCATCCCCCGCCAGGGGTCT	0.627													G|||	1	0.000199681	0.0	0.0014	5008	,	,		14228	0.0		0.0	False		,,,				2504	0.0																0																																										SO:0001583	missense	0																														ENST00000454679.2:c.2975G>A	10.37:g.19777950G>A	ENSP00000412763:p.Arg992His		B7ZBP2	Missense_Mutation	SNP	pfam_MAM_dom,pfam_LDrepeatLR_classA_rpt,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_MAM_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,prints_LDrepeatLR_classA_rpt,prints_MAM_dom	p.R992H	ENST00000454679.2	37	c.2975		10	.	.	.	.	.	.	.	.	.	.	G	4.784	0.145798	0.09134	.	.	ENSG00000204740	ENST00000377266;ENST00000454679	D;D	0.89123	-2.47;-2.11	0.505	-0.887	0.10587	.	.	.	.	.	T	0.78786	0.4338	.	.	.	0.19775	N	0.99995	.	.	.	.	.	.	T	0.62034	-0.6939	4	.	.	.	.	.	.	.	.	.	.	.	H	1005;992	ENSP00000366477:R1005H;ENSP00000412763:R992H	.	R	+	2	0	C10orf112	19817956	0.002000	0.14202	0.027000	0.17364	0.128000	0.20619	-0.439000	0.06897	-1.563000	0.01680	-1.786000	0.00637	CGC	C10orf112	-	NULL	ENSG00000204740		0.627	C10orf112-201	KNOWN	basic|appris_principal	protein_coding	C10orf112	HGNC	protein_coding			0.00	18	0	G			19777950	+1			no_errors	ENST00000454679	ensembl	human	known	74_37	missense	9.52	95	10	SNP	0.297	A
C10orf90	118611	genome.wustl.edu	37	10	128193341	128193341	+	Missense_Mutation	SNP	G	G	A	rs144072115	byFrequency	TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr10:128193341G>A	ENST00000284694.7	-	3	548	c.428C>T	c.(427-429)aCg>aTg	p.T143M	C10orf90_ENST00000368674.1_5'UTR|C10orf90_ENST00000356858.3_Missense_Mutation_p.T96M|C10orf90_ENST00000392694.1_Missense_Mutation_p.T96M|C10orf90_ENST00000454341.1_Missense_Mutation_p.T143M|C10orf90_ENST00000544758.1_Missense_Mutation_p.T240M	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	143	Required for interaction with HDAC1. {ECO:0000250}.				mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell growth (GO:0030308)|protein stabilization (GO:0050821)|response to ionizing radiation (GO:0010212)|response to UV (GO:0009411)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		GCGTCTGGCCGTGATGGTGAT	0.687											OREG0020616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	8	0.00159744	0.0	0.0	5008	,	,		13733	0.0		0.003	False		,,,				2504	0.0051																0								G	MET/THR	1,4365		0,1,2182	27.0	32.0	31.0		428	5.1	1.0	10	dbSNP_134	31	20,8540		0,20,4260	yes	missense	C10orf90	NM_001004298.2	81	0,21,6442	AA,AG,GG		0.2336,0.0229,0.1625	probably-damaging	143/700	128193341	21,12905	2183	4280	6463	SO:0001583	missense	0			BC034828	CCDS31310.1	10q26.2	2012-05-31			ENSG00000154493	ENSG00000154493			26563	protein-coding gene	gene with protein product	"""fragile-site associated tumor suppressor"""					20843368, 20154723	Standard	NM_001004298		Approved	FLJ32938, bA422P15.2, FATS	uc001ljq.3	Q96M02	OTTHUMG00000019245	ENST00000284694.7:c.428C>T	10.37:g.128193341G>A	ENSP00000284694:p.Thr143Met	1563	B9EIQ9|Q5JRP6|Q5T023|Q8NCV5|Q8WU75	Missense_Mutation	SNP	NULL	p.T240M	ENST00000284694.7	37	c.719	CCDS31310.1	10	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	24.4	4.526101	0.85600	2.29E-4	0.002336	ENSG00000154493	ENST00000356858;ENST00000284694;ENST00000454341;ENST00000544758;ENST00000432642;ENST00000368674;ENST00000392694	T;T;T;T;T	0.50813	1.01;0.96;1.16;1.03;0.73	5.1	5.1	0.69264	.	0.000000	0.56097	D	0.000024	T	0.68128	0.2967	M	0.65498	2.005	0.44937	D	0.997952	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.999;1.0;1.0;1.0	T	0.70981	-0.4724	10	0.87932	D	0	-20.6417	17.7212	0.88351	0.0:0.0:1.0:0.0	.	240;240;96;143;143	F5GZL2;B4DMQ6;Q5T024;Q96M02;Q96M02-2	.;.;.;CJ090_HUMAN;.	M	96;143;143;240;143;96;96	ENSP00000284694:T143M;ENSP00000398786:T143M;ENSP00000444369:T240M;ENSP00000405995:T143M;ENSP00000376459:T96M	ENSP00000284694:T143M	T	-	2	0	C10orf90	128183331	1.000000	0.71417	0.971000	0.41717	0.879000	0.50718	6.002000	0.70693	2.652000	0.90054	0.655000	0.94253	ACG	C10orf90	-	NULL	ENSG00000154493		0.687	C10orf90-201	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf90	HGNC	protein_coding			0.00	13	0	G	NM_001004298		128193341	-1			no_errors	ENST00000544758	ensembl	human	known	74_37	missense	14.29	48	8	SNP	0.994	A
C16orf70	80262	genome.wustl.edu	37	16	67166782	67166782	+	Silent	SNP	T	T	C			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr16:67166782T>C	ENST00000219139.3	+	6	606	c.418T>C	c.(418-420)Tta>Cta	p.L140L	C16orf70_ENST00000569683.1_3'UTR|C16orf70_ENST00000569600.1_Silent_p.L140L	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN	chromosome 16 open reading frame 70	140										cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		CTCTTTTCAGTTAGACTCATG	0.488																																																	0													172.0	158.0	163.0					16																	67166782		2200	4300	6500	SO:0001819	synonymous_variant	0			AK022138	CCDS10828.1	16q22.1	2011-01-25	2006-04-12	2006-04-12	ENSG00000125149	ENSG00000125149			29564	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 6"""	C16orf6, LIN10		12477932	Standard	NM_025187		Approved	lin-10, FLJ12076	uc002erd.3	Q9BSU1	OTTHUMG00000137510	ENST00000219139.3:c.418T>C	16.37:g.67166782T>C			Q9HA86	Silent	SNP	pfam_UPF0183	p.L140	ENST00000219139.3	37	c.418	CCDS10828.1	16																																																																																			C16orf70	-	pfam_UPF0183	ENSG00000125149		0.488	C16orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C16orf70	HGNC	protein_coding	OTTHUMT00000268829.2	-	0.00	28	0	T	NM_025187		67166782	+1	tier1	-	no_errors	ENST00000219139	ensembl	human	known	74_37	silent	16.44	61	12	SNP	1.000	C
CFAP61	26074	genome.wustl.edu	37	20	20180466	20180466	+	Missense_Mutation	SNP	G	G	A			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr20:20180466G>A	ENST00000245957.5	+	17	1928	c.1852G>A	c.(1852-1854)Gtg>Atg	p.V618M	C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000377309.2_5'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		618										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		CTTGGTTCCCGTGCGACCACG	0.532																																																	0													156.0	138.0	144.0					20																	20180466		2203	4300	6503	SO:0001583	missense	0																														ENST00000245957.5:c.1852G>A	20.37:g.20180466G>A	ENSP00000245957:p.Val618Met		A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Missense_Mutation	SNP	superfamily_Acyl_CoA_acyltransferase	p.V618M	ENST00000245957.5	37	c.1852	CCDS33447.1	20	.	.	.	.	.	.	.	.	.	.	G	20.5	3.995633	0.74703	.	.	ENSG00000089101	ENST00000343997;ENST00000339482;ENST00000389655;ENST00000245957	T	0.58210	0.35	5.57	5.57	0.84162	.	0.000000	0.64402	D	0.000001	T	0.75162	0.3812	M	0.79123	2.44	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.77678	-0.2498	10	0.87932	D	0	.	19.5625	0.95378	0.0:0.0:1.0:0.0	.	598;618	F8W6K4;Q8NHU2	.;CT026_HUMAN	M	558;186;598;618	ENSP00000245957:V618M	ENSP00000245957:V618M	V	+	1	0	C20orf26	20128466	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.319000	0.79040	2.620000	0.88729	0.563000	0.77884	GTG	C20orf26	-	NULL	ENSG00000089101		0.532	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	C20orf26	HGNC	protein_coding	OTTHUMT00000078228.3		0.00	13	0	G			20180466	+1			no_errors	ENST00000245957	ensembl	human	known	74_37	missense	12.28	50	7	SNP	1.000	A
C9orf131	138724	genome.wustl.edu	37	9	35045009	35045009	+	Missense_Mutation	SNP	C	C	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr9:35045009C>T	ENST00000312292.5	+	2	2430	c.2383C>T	c.(2383-2385)Cgg>Tgg	p.R795W	C9orf131_ENST00000421362.2_Missense_Mutation_p.R747W|FLJ00273_ENST00000595331.1_5'Flank|C9orf131_ENST00000354479.5_Missense_Mutation_p.R722W	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	795										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			GAAGAAACTGCGGCAGAGCCC	0.572																																																	0													116.0	124.0	122.0					9																	35045009		2203	4300	6503	SO:0001583	missense	0			BC045643	CCDS6572.2, CCDS47961.1, CCDS47962.1	9p13.3	2008-02-05			ENSG00000174038	ENSG00000174038			31418	protein-coding gene	gene with protein product							Standard	NM_001287391		Approved	MGC41945	uc003zvw.3	Q5VYM1	OTTHUMG00000019853	ENST00000312292.5:c.2383C>T	9.37:g.35045009C>T	ENSP00000308279:p.Arg795Trp		A6NLE6|E9PB26|Q86XC6|Q9UF74	Missense_Mutation	SNP	NULL	p.R795W	ENST00000312292.5	37	c.2383	CCDS6572.2	9	.	.	.	.	.	.	.	.	.	.	C	17.51	3.407757	0.62399	.	.	ENSG00000174038	ENST00000421362;ENST00000354479;ENST00000312292;ENST00000435140	T;T;T	0.16324	2.36;2.35;2.36	3.99	3.99	0.46301	.	0.659040	0.12903	N	0.429597	T	0.12518	0.0304	N	0.22421	0.69	0.09310	N	1	D;P;P;P	0.63880	0.993;0.825;0.825;0.825	B;B;B;B	0.40741	0.339;0.237;0.237;0.237	T	0.11446	-1.0587	10	0.66056	D	0.02	-0.3031	11.7844	0.52034	0.0:1.0:0.0:0.0	.	270;795;722;747	B4DXT9;Q5VYM1;A6NLE6;E9PB26	.;CI131_HUMAN;.;.	W	747;722;795;270	ENSP00000393683:R747W;ENSP00000346472:R722W;ENSP00000308279:R795W	ENSP00000308279:R795W	R	+	1	2	C9orf131	35035009	0.769000	0.28531	0.818000	0.32626	0.169000	0.22640	0.646000	0.24797	2.229000	0.72834	0.563000	0.77884	CGG	C9orf131	-	NULL	ENSG00000174038		0.572	C9orf131-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C9orf131	HGNC	protein_coding	OTTHUMT00000052283.5		0.00	14	0	C	NM_203299		35045009	+1			no_errors	ENST00000312292	ensembl	human	known	74_37	missense	8.82	31	3	SNP	0.382	T
CACNA2D3	55799	genome.wustl.edu	37	3	54912965	54912966	+	Intron	DNP	CT	CT	AA			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C|T	C|T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr3:54912965_54912966CT>AA	ENST00000474759.1	+	19	1758				CACNA2D3_ENST00000288197.5_Intron|CACNA2D3_ENST00000490478.1_Intron|CACNA2D3_ENST00000415676.2_Intron|CACNA2D3-AS1_ENST00000471265.1_RNA	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3							integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	Amlodipine(DB00381)|Nilvadipine(DB06712)|Spironolactone(DB00421)	GGAGGCTCCACTGCACGCTGAG	0.401																																																	0																																										SO:0001627	intron_variant	0			AJ272268	CCDS54598.1	3p21.1	2010-10-05	2008-02-26		ENSG00000157445	ENSG00000157445		"""Calcium channel subunits"""	15460	protein-coding gene	gene with protein product		606399				11245980	Standard	XM_005265318		Approved	HSA272268	uc003dhf.3	Q8IZS8	OTTHUMG00000158580	Exception_encountered	3.37:g.54912965_54912966delinsAA			B2RPL6|Q9NY16|Q9NY18	RNA	SNP	-	NULL	ENST00000474759.1	37	NULL	CCDS54598.1	3																																																																																			CACNA2D3-AS1	-	-	ENSG00000243715		0.401	CACNA2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA2D3-AS1	HGNC	protein_coding	OTTHUMT00000351402.1	-	0.00	10	0	C|T			54912965|54912966	-1	tier1	-	no_errors	ENST00000471265	ensembl	human	known	74_37	rna	23.81|25.00	32|33	10|11	SNP	0.000	A
CASP12	100506742	genome.wustl.edu	37	11	104762130	104762131	+	Splice_Site	DNP	TC	TC	AA			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	T|C	T|C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr11:104762130_104762131TC>AA	ENST00000422698.2	-	4	451_452	c.433_434GA>TT	c.(433-435)GAa>TTa	p.E145L	CASP12_ENST00000448103.1_Intron|CASP12_ENST00000446862.1_Splice_Site_p.E145L|CASP12_ENST00000508062.1_Splice_Site_p.E61L|CASP12_ENST00000433738.1_Intron|CASP12_ENST00000375726.2_Splice_Site_p.E145L|CASP12_ENST00000494737.1_Intron|CASP12_ENST00000447913.1_Intron|CASP12_ENST00000441710.1_Splice_Site_p.E145L	NM_001191016.1	NP_001177945.1	Q6UXS9	CASPC_HUMAN	caspase 12 (gene/pseudogene)	145					endoplasmic reticulum unfolded protein response (GO:0030968)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|regulation of apoptotic process (GO:0042981)	cytoplasm (GO:0005737)	cysteine-type endopeptidase activity (GO:0004197)			breast(1)	1						TGTTTCCATTTCCTGAAAGAGA	0.46																																																	0																																										SO:0001630	splice_region_variant	0			AF464191		11q22.3	2011-02-14	2007-12-17	2006-02-17	ENSG00000204403	ENSG00000204403		"""Caspases"""	19004	protein-coding gene	gene with protein product		608633	"""caspase 12 pseudogene 1"", ""caspase 12"""	CASP12P1		12054529, 9038361, 16917906, 16532395	Standard	NM_001191016		Approved		uc031qdo.1	Q6UXS9	OTTHUMG00000154965	ENST00000422698.2:c.433_434delinsAA	11.37:g.104762130_104762131delinsAA			D6RBN7	Missense_Mutation|Nonsense_Mutation	SNP	pfam_Pept_C14_caspase,pfam_CARD,superfamily_DEATH-like_dom,smart_Pept_C14A_p45_core,pirsf_Caspase_IL-1_beta,pfscan_CARD,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core	p.E145V|p.E145*	ENST00000422698.2	37	c.434|c.433	CCDS55785.1	11																																																																																			CASP12	-	pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core,pirsf_Caspase_IL-1_beta,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core	ENSG00000204403		0.460	CASP12-008	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	CASP12	HGNC	protein_coding	OTTHUMT00000337832.2	-	0.00	11	0	T|C	NM_001191016	Missense_Mutation	104762130|104762131	-1	tier1	-	no_errors	ENST00000375726	ensembl	human	known	74_37	missense|nonsense	20.00|19.75	64|65	16	SNP	1.000	A
CASZ1	54897	genome.wustl.edu	37	1	10725216	10725216	+	Silent	SNP	G	G	A			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr1:10725216G>A	ENST00000377022.3	-	5	746	c.429C>T	c.(427-429)ggC>ggT	p.G143G	CASZ1_ENST00000478728.2_5'UTR|CASZ1_ENST00000344008.5_Silent_p.G143G	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	143					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		CCAGGGCACCGCCGTCCTTGG	0.692																																																	0													47.0	42.0	44.0					1																	10725216		2203	4300	6503	SO:0001819	synonymous_variant	0			AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"""Zinc fingers, C2H2-type"""	26002	protein-coding gene	gene with protein product	"""zinc finger protein 693"", ""survival related gene"""	609895	"""castor homolog 1, zinc finger (Drosophila)"""			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.429C>T	1.37:g.10725216G>A			Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G143	ENST00000377022.3	37	c.429	CCDS41246.1	1																																																																																			CASZ1	-	NULL	ENSG00000130940		0.692	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CASZ1	HGNC	protein_coding	OTTHUMT00000005673.2	-	0.00	19	0	G	NM_017766		10725216	-1	tier1	-	no_errors	ENST00000377022	ensembl	human	known	74_37	silent	19.12	55	13	SNP	0.835	A
CCDC12	151903	genome.wustl.edu	37	3	46965112	46965112	+	Silent	SNP	G	G	A	rs551526667		TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr3:46965112G>A	ENST00000546280.1	-	4	338	c.291C>T	c.(289-291)ccC>ccT	p.P97P	CCDC12_ENST00000292314.2_Silent_p.P110P|CCDC12_ENST00000425441.1_Silent_p.P110P|CCDC12_ENST00000605358.1_5'UTR	NM_144716.3	NP_653317.2	Q8WUD4	CCD12_HUMAN	coiled-coil domain containing 12	97				P -> S (in Ref. 1; BAC04857). {ECO:0000305}.						endometrium(1)|large_intestine(1)|urinary_tract(1)	3		Prostate(884;0.0143)|Ovarian(412;0.0448)|Acute lymphoblastic leukemia(5;0.143)		OV - Ovarian serous cystadenocarcinoma(275;2.2e-56)|BRCA - Breast invasive adenocarcinoma(193;0.00136)|KIRC - Kidney renal clear cell carcinoma(197;0.00703)|Kidney(197;0.00809)		CCTCGATGACGGGCTCGGGCT	0.602											OREG0015545	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													63.0	51.0	55.0					3																	46965112		2203	4300	6503	SO:0001819	synonymous_variant	0			BC020830	CCDS2748.1, CCDS2748.2, CCDS2748.3, CCDS63612.1	3p21.31	2006-10-24			ENSG00000160799	ENSG00000160799			28332	protein-coding gene	gene with protein product						12477932	Standard	NM_001277074		Approved	MGC23918	uc003cqo.3	Q8WUD4	OTTHUMG00000133513	ENST00000546280.1:c.291C>T	3.37:g.46965112G>A		943	Q8N8I4	Silent	SNP	pfam_mRNA_splic_Cwf18	p.P110	ENST00000546280.1	37	c.330		3																																																																																			CCDC12	-	pfam_mRNA_splic_Cwf18	ENSG00000160799		0.602	CCDC12-202	KNOWN	basic|appris_principal	protein_coding	CCDC12	HGNC	protein_coding		-	0.00	21	0	G	NM_144716		46965112	-1	tier1	-	no_errors	ENST00000292314	ensembl	human	known	74_37	silent	37.93	18	11	SNP	0.006	A
CCDC88C	440193	genome.wustl.edu	37	14	91773422	91773422	+	Missense_Mutation	SNP	A	A	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr14:91773422A>T	ENST00000389857.6	-	18	3241	c.3155T>A	c.(3154-3156)cTt>cAt	p.L1052H		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1052					protein destabilization (GO:0031648)|protein homooligomerization (GO:0051260)|regulation of protein phosphorylation (GO:0001932)|Wnt signaling pathway (GO:0016055)		PDZ domain binding (GO:0030165)|protein self-association (GO:0043621)	p.L1052R(1)		central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				CACTCGGAGAAGCTCCATGGT	0.622																																																	1	Substitution - Missense(1)	NS(1)											34.0	39.0	37.0					14																	91773422		1973	4149	6122	SO:0001583	missense	0				CCDS45151.1	14q32.12	2014-07-30	2007-05-31	2007-05-31		ENSG00000015133			19967	protein-coding gene	gene with protein product	"""Dvl-associating protein with a high frequency of leucine residues"", ""spinocerebellar ataxia 40"""	611204	"""KIAA1509"""	KIAA1509		17185515, 25062847	Standard	NM_001080414		Approved	DAPLE, HkRP2, SCA40	uc010aty.3	Q9P219		ENST00000389857.6:c.3155T>A	14.37:g.91773422A>T	ENSP00000374507:p.Leu1052His		Q69YK1|Q7L1M2|Q86SX7|Q8IYG8	Missense_Mutation	SNP	pfam_Hook-related_fam,superfamily_Prefoldin,superfamily_Fum_Rdtase/Succ_DH_flav-like_C	p.L1052H	ENST00000389857.6	37	c.3155	CCDS45151.1	14	.	.	.	.	.	.	.	.	.	.	A	25.3	4.622456	0.87460	.	.	ENSG00000015133	ENST00000389857	T	0.19250	2.16	4.94	4.94	0.65067	.	0.000000	0.38272	U	0.001753	T	0.49012	0.1532	M	0.81802	2.56	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.55811	-0.8082	10	0.87932	D	0	-13.443	14.6086	0.68498	1.0:0.0:0.0:0.0	.	1052	Q9P219	DAPLE_HUMAN	H	1052	ENSP00000374507:L1052H	ENSP00000374507:L1052H	L	-	2	0	CCDC88C	90843175	1.000000	0.71417	0.977000	0.42913	0.920000	0.55202	7.294000	0.78760	1.857000	0.53885	0.459000	0.35465	CTT	CCDC88C	-	NULL	ENSG00000015133		0.622	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC88C	HGNC	protein_coding	OTTHUMT00000411650.1		0.00	11	0	A	XM_029353		91773422	-1			no_errors	ENST00000389857	ensembl	human	known	74_37	missense	13.64	19	3	SNP	1.000	T
CCNJL	79616	genome.wustl.edu	37	5	159696549	159696549	+	Intron	SNP	G	G	A	rs561157008		TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr5:159696549G>A	ENST00000393977.3	-	4	710				CCNJL_ENST00000505287.2_Missense_Mutation_p.R140W|CCNJL_ENST00000541762.1_Intron|CCNJL_ENST00000377503.2_5'UTR|CCNJL_ENST00000257536.7_Intron|CCNJL_ENST00000519673.1_Intron	NM_024565.5	NP_078841.3	Q8IV13	CCNJL_HUMAN	cyclin J-like							nucleus (GO:0005634)				endometrium(2)|kidney(5)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCTTTGTTCCGACCTATGCGG	0.592													G|||	1	0.000199681	0.0	0.0	5008	,	,		20715	0.001		0.0	False		,,,				2504	0.0																0																																										SO:0001627	intron_variant	0			BC013353	CCDS4350.2	5q33.3	2008-10-31			ENSG00000135083	ENSG00000135083			25876	protein-coding gene	gene with protein product						12477932	Standard	XM_005265982		Approved	FLJ14166	uc003lyb.1	Q8IV13	OTTHUMG00000130325	ENST00000393977.3:c.424+6726C>T	5.37:g.159696549G>A			Q6ZN43|Q9H7W8	Missense_Mutation	SNP	pfam_Cyclin_N,superfamily_Cyclin-like	p.R140W	ENST00000393977.3	37	c.418	CCDS4350.2	5	.	.	.	.	.	.	.	.	.	.	G	9.333	1.060998	0.19987	.	.	ENSG00000135083	ENST00000505287	T	0.19394	2.15	3.2	-6.4	0.01944	.	.	.	.	.	T	0.14657	0.0354	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.33599	-0.9862	6	0.87932	D	0	.	1.307	0.02090	0.2661:0.2712:0.3186:0.1441	.	.	.	.	W	140	ENSP00000444778:R140W	ENSP00000444778:R140W	R	-	1	2	CCNJL	159629127	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.090000	0.03372	-1.486000	0.01851	-0.290000	0.09829	CGG	CCNJL	-	pfam_Cyclin_N,superfamily_Cyclin-like	ENSG00000135083		0.592	CCNJL-001	KNOWN	basic|CCDS	protein_coding	CCNJL	HGNC	protein_coding	OTTHUMT00000252674.1	-	0.00	15	0	G	NM_024565		159696549	-1	tier1	-	no_errors	ENST00000505287	ensembl	human	known	74_37	missense	22.73	34	10	SNP	0.000	A
CDC42	998	genome.wustl.edu	37	1	22416504	22416504	+	Intron	SNP	A	A	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr1:22416504A>T	ENST00000344548.3	+	7	737				CDC42_ENST00000421089.2_Intron|CDC42_ENST00000315554.8_Missense_Mutation_p.K185N|CDC42_ENST00000400259.1_Intron	NM_001039802.1	NP_001034891.1	P60953	CDC42_HUMAN	cell division cycle 42						actin cytoskeleton organization (GO:0030036)|actin filament branching (GO:0090135)|actin filament bundle assembly (GO:0051017)|adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway (GO:0060070)|cardiac conduction system development (GO:0003161)|cellular protein localization (GO:0034613)|dendritic cell migration (GO:0036336)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell-cell adhesion (GO:0090136)|epithelial-mesenchymal cell signaling (GO:0060684)|establishment of Golgi localization (GO:0051683)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|establishment or maintenance of cell polarity (GO:0007163)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|filopodium assembly (GO:0046847)|Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|heart contraction (GO:0060047)|innate immune response (GO:0045087)|keratinization (GO:0031424)|keratinocyte development (GO:0003334)|macrophage differentiation (GO:0030225)|multicellular organism growth (GO:0035264)|muscle cell differentiation (GO:0042692)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of gene expression (GO:0010629)|negative regulation of protein complex assembly (GO:0031333)|neuron fate determination (GO:0048664)|nuclear migration (GO:0007097)|nucleus localization (GO:0051647)|organelle transport along microtubule (GO:0072384)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of gene expression (GO:0010628)|positive regulation of hair follicle cell proliferation (GO:0071338)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of JNK cascade (GO:0046330)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of synapse structural plasticity (GO:0051835)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of filopodium assembly (GO:0051489)|regulation of mitosis (GO:0007088)|regulation of protein catabolic process (GO:0042176)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein kinase activity (GO:0045859)|regulation of protein stability (GO:0031647)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|sprouting angiogenesis (GO:0002040)|submandibular salivary gland formation (GO:0060661)|substantia nigra development (GO:0021762)|T cell costimulation (GO:0031295)	apical part of cell (GO:0045177)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|leading edge membrane (GO:0031256)|membrane (GO:0016020)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|spindle midzone (GO:0051233)	apolipoprotein A-I receptor binding (GO:0034191)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|protein kinase binding (GO:0019901)|thioesterase binding (GO:0031996)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)	12		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)|Prostate(1639;0.0792)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0452)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.35e-07)|COAD - Colon adenocarcinoma(152;7.73e-06)|GBM - Glioblastoma multiforme(114;8.62e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000649)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00767)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.207)		CTCAACCCAAAAGGAAGTGCT	0.443																																																	0													107.0	91.0	96.0					1																	22416504		2203	4300	6503	SO:0001627	intron_variant	0			BC018266	CCDS221.1, CCDS222.1	1p36.1	2013-01-17	2013-01-17		ENSG00000070831	ENSG00000070831			1736	protein-coding gene	gene with protein product	"""GTP binding protein, 25kDa"""	116952	"""cell division cycle 42 (GTP-binding protein, 25kD)"", ""cell division cycle 42 (GTP binding protein, 25kDa)"""			2124704, 2122236	Standard	NM_001039802		Approved	G25K, CDC42Hs	uc001bfr.3	P60953	OTTHUMG00000002753	ENST00000344548.3:c.487-1417A>T	1.37:g.22416504A>T			P21181|P25763|Q7L8R5|Q9UDI2	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.K185N	ENST00000344548.3	37	c.555	CCDS221.1	1	.	.	.	.	.	.	.	.	.	.	a	10.30	1.312115	0.23821	.	.	ENSG00000070831	ENST00000315554	T	0.68181	-0.31	5.96	4.84	0.62591	.	.	.	.	.	T	0.58566	0.2131	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.12837	0.008	T	0.55679	-0.8103	8	0.62326	D	0.03	.	11.0138	0.47677	0.9269:0.0:0.0731:0.0	.	185	P60953-1	.	N	185	ENSP00000314458:K185N	ENSP00000314458:K185N	K	+	3	2	CDC42	22289091	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	3.466000	0.53071	1.084000	0.41184	-0.263000	0.10527	AAA	CDC42	-	superfamily_P-loop_NTPase	ENSG00000070831		0.443	CDC42-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDC42	HGNC	protein_coding	OTTHUMT00000007787.1		0.00	15	0	A	NM_001791		22416504	+1			no_errors	ENST00000315554	ensembl	human	known	74_37	missense	5.06	75	4	SNP	1.000	T
CDC42BPB	9578	genome.wustl.edu	37	14	103433470	103433470	+	Missense_Mutation	SNP	C	C	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr14:103433470C>T	ENST00000361246.2	-	17	2672	c.2384G>A	c.(2383-2385)aGa>aAa	p.R795K		NM_006035.3	NP_006026.3			CDC42 binding protein kinase beta (DMPK-like)											NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		CTCCAGCTGTCTATTTTGAGC	0.478																																																	0													71.0	66.0	68.0					14																	103433470		2203	4300	6503	SO:0001583	missense	0			AF128625	CCDS9978.1	14q32.32	2010-05-12	2001-11-28		ENSG00000198752	ENSG00000198752			1738	protein-coding gene	gene with protein product		614062	"""CDC42-binding protein kinase beta (DMPK-like)"""			10198171	Standard	NM_006035		Approved	MRCKB, KIAA1124	uc001ymi.1	Q9Y5S2		ENST00000361246.2:c.2384G>A	14.37:g.103433470C>T	ENSP00000355237:p.Arg795Lys			Missense_Mutation	SNP	pfam_Citron,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,smart_CRIB_dom,pfscan_CRIB_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd	p.R795K	ENST00000361246.2	37	c.2384	CCDS9978.1	14	.	.	.	.	.	.	.	.	.	.	C	19.56	3.851420	0.71719	.	.	ENSG00000198752	ENST00000361246	T	0.44083	0.93	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.43722	0.1260	L	0.60845	1.875	0.80722	D	1	B	0.17852	0.024	B	0.16289	0.015	T	0.25222	-1.0138	10	0.33141	T	0.24	.	19.3545	0.94407	0.0:1.0:0.0:0.0	.	795	Q9Y5S2	MRCKB_HUMAN	K	795	ENSP00000355237:R795K	ENSP00000355237:R795K	R	-	2	0	CDC42BPB	102503223	1.000000	0.71417	0.968000	0.41197	0.994000	0.84299	7.750000	0.85110	2.668000	0.90789	0.655000	0.94253	AGA	CDC42BPB	-	NULL	ENSG00000198752		0.478	CDC42BPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC42BPB	HGNC	protein_coding	OTTHUMT00000415711.1		0.00	8	0	C	NM_006035		103433470	-1			no_errors	ENST00000361246	ensembl	human	known	74_37	missense	8.70	42	4	SNP	1.000	T
CENPL	91687	genome.wustl.edu	37	1	173776428	173776428	+	Missense_Mutation	SNP	C	C	T	rs144722707	byFrequency	TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr1:173776428C>T	ENST00000345664.6	-	3	610	c.397G>A	c.(397-399)Gac>Aac	p.D133N	CENPL_ENST00000356198.2_Missense_Mutation_p.D133N|Y_RNA_ENST00000516548.1_RNA|CENPL_ENST00000367710.3_Missense_Mutation_p.D133N	NM_001171182.1	NP_001164653.1	Q8N0S6	CENPL_HUMAN	centromere protein L	133					mitotic cell cycle (GO:0000278)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(3)	11						GCTTCCGGGTCCCTTTGTGTT	0.368																																																	0								C	ASN/ASP,ASN/ASP,ASN/ASP	0,4406		0,0,2203	61.0	66.0	64.0		397,397,397	5.9	0.7	1	dbSNP_134	64	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense	CENPL	NM_001127181.2,NM_001171182.1,NM_033319.3	23,23,23	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging	133/391,133/345,133/345	173776428	2,13004	2203	4300	6503	SO:0001583	missense	0			BC033154, BC019022, AK055606	CCDS30938.1, CCDS44277.1	1q25.1	2013-11-05	2006-06-15	2006-06-15	ENSG00000120334	ENSG00000120334			17879	protein-coding gene	gene with protein product		611503	"""chromosome 1 open reading frame 155"""	C1orf155		16622420, 16622419	Standard	NM_033319		Approved	dJ383J4.3, FLJ31044	uc001gje.4	Q8N0S6	OTTHUMG00000034802	ENST00000345664.6:c.397G>A	1.37:g.173776428C>T	ENSP00000323543:p.Asp133Asn		Q5TEL5|Q96ND4	Missense_Mutation	SNP	NULL	p.D133N	ENST00000345664.6	37	c.397	CCDS30938.1	1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.818431	0.90790	0.0	2.33E-4	ENSG00000120334	ENST00000356198;ENST00000345664;ENST00000367710	T;T;T	0.56776	1.1;0.44;0.44	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.67748	0.2926	M	0.68952	2.095	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.74674	0.984;0.965	T	0.67337	-0.5696	10	0.66056	D	0.02	-4.8904	19.3531	0.94398	0.0:1.0:0.0:0.0	.	133;133	Q8N0S6-2;Q8N0S6	.;CENPL_HUMAN	N	133	ENSP00000348527:D133N;ENSP00000323543:D133N;ENSP00000356683:D133N	ENSP00000323543:D133N	D	-	1	0	CENPL	172043051	1.000000	0.71417	0.683000	0.30040	0.709000	0.40893	6.438000	0.73426	2.941000	0.99782	0.655000	0.94253	GAC	CENPL	-	NULL	ENSG00000120334		0.368	CENPL-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPL	HGNC	protein_coding	OTTHUMT00000084213.1	-	0.00	17	0	C	NM_033319		173776428	-1	tier1	rs144722707	no_errors	ENST00000356198	ensembl	human	known	74_37	missense	31.09	82	37	SNP	0.997	T
CENPQ	55166	genome.wustl.edu	37	6	49439801	49439801	+	Missense_Mutation	SNP	A	A	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr6:49439801A>T	ENST00000335783.3	+	4	277	c.183A>T	c.(181-183)aaA>aaT	p.K61N		NM_018132.3	NP_060602.2	Q7L2Z9	CENPQ_HUMAN	centromere protein Q	61					CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(4)|ovary(2)|prostate(1)	11	Lung NSC(77;0.0128)					CTAACCTAAAACACGGAAAGA	0.383																																																	0													120.0	123.0	122.0					6																	49439801		2203	4300	6503	SO:0001583	missense	0			AK001407	CCDS4925.1	6p12.3	2013-11-05	2006-06-15	2006-06-15	ENSG00000031691	ENSG00000031691			21347	protein-coding gene	gene with protein product		611506	"""chromosome 6 open reading frame 139"""	C6orf139		16622420, 16622419	Standard	NM_018132		Approved	FLJ10545, CENP-Q	uc003ozh.1	Q7L2Z9	OTTHUMG00000014815	ENST00000335783.3:c.183A>T	6.37:g.49439801A>T	ENSP00000337289:p.Lys61Asn		A8KAF1|Q6IN61|Q9NVS5	Missense_Mutation	SNP	NULL	p.K61N	ENST00000335783.3	37	c.183	CCDS4925.1	6	.	.	.	.	.	.	.	.	.	.	A	14.30	2.494184	0.44352	.	.	ENSG00000031691	ENST00000335783;ENST00000371200	T	0.38560	1.13	5.0	2.62	0.31277	.	0.382752	0.28166	N	0.016351	T	0.42200	0.1192	M	0.70275	2.135	0.35609	D	0.808525	D	0.54047	0.964	P	0.59643	0.861	T	0.46721	-0.9171	10	0.87932	D	0	-21.828	7.2915	0.26368	0.823:0.0:0.177:0.0	.	61	Q7L2Z9	CENPQ_HUMAN	N	61	ENSP00000337289:K61N	ENSP00000337289:K61N	K	+	3	2	CENPQ	49547760	0.962000	0.33011	0.883000	0.34634	0.221000	0.24807	1.794000	0.38774	0.484000	0.27630	0.472000	0.43445	AAA	CENPQ	-	NULL	ENSG00000031691		0.383	CENPQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPQ	HGNC	protein_coding	OTTHUMT00000040855.2	-	0.00	8	0	A	NM_018132		49439801	+1	tier1	-	no_errors	ENST00000335783	ensembl	human	known	74_37	missense	23.64	42	13	SNP	0.958	T
CEP41	95681	genome.wustl.edu	37	7	130039882	130039882	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr7:130039882G>T	ENST00000223208.5	-	10	1241	c.971C>A	c.(970-972)cCt>cAt	p.P324H	CEP41_ENST00000343969.5_Intron|CEP41_ENST00000541543.1_Intron	NM_001257158.1|NM_018718.2	NP_001244087.1|NP_061188.1	Q9BYV8	CEP41_HUMAN	centrosomal protein 41kDa	324					cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein polyglutamylation (GO:0018095)|protein transport (GO:0015031)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|membrane (GO:0016020)|primary cilium (GO:0072372)											GATCTTACTAGGATGATCTGC	0.368																																																	0													68.0	73.0	71.0					7																	130039882		2203	4300	6503	SO:0001583	missense	0			AJ278890	CCDS5821.1, CCDS59078.1, CCDS59079.1, CCDS59080.1	7q32	2014-02-20	2011-10-04	2011-10-04	ENSG00000106477	ENSG00000106477			12370	protein-coding gene	gene with protein product		610523	"""testis specific, 14"""	TSGA14		14654843, 22246503	Standard	NM_018718		Approved	DKFZp762H1311, FLJ22445, JBTS15	uc003vpz.4	Q9BYV8	OTTHUMG00000157823	ENST00000223208.5:c.971C>A	7.37:g.130039882G>T	ENSP00000223208:p.Pro324His		A4D1M0|B4DQ35|F5H0V6|Q7Z496|Q86TM1|Q8NFU8|Q9H6A3|Q9NPV3	Missense_Mutation	SNP	pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom	p.P324H	ENST00000223208.5	37	c.971	CCDS5821.1	7	.	.	.	.	.	.	.	.	.	.	G	11.88	1.771564	0.31320	.	.	ENSG00000106477	ENST00000223208	D	0.88586	-2.4	5.64	4.76	0.60689	.	0.533610	0.22190	N	0.063397	D	0.86748	0.6007	L	0.56769	1.78	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	D	0.83558	0.0105	10	0.59425	D	0.04	-19.7328	13.184	0.59670	0.0773:0.0:0.9227:0.0	.	324	Q9BYV8	CEP41_HUMAN	H	324	ENSP00000223208:P324H	ENSP00000223208:P324H	P	-	2	0	TSGA14	129827118	1.000000	0.71417	0.504000	0.27639	0.669000	0.39330	2.097000	0.41748	1.375000	0.46248	0.655000	0.94253	CCT	CEP41	-	NULL	ENSG00000106477		0.368	CEP41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP41	HGNC	protein_coding	OTTHUMT00000349702.2		0.00	9	0	G	NM_018718		130039882	-1			no_errors	ENST00000223208	ensembl	human	known	74_37	missense	5.08	56	3	SNP	0.905	T
CHD5	26038	genome.wustl.edu	37	1	6191703	6191703	+	Missense_Mutation	SNP	C	C	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr1:6191703C>T	ENST00000262450.3	-	21	3349	c.3250G>A	c.(3250-3252)Gac>Aac	p.D1084N	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.D1084N(1)		breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		TTGAATCTGTCGATTGCCTCC	0.572																																																	1	Substitution - Missense(1)	large_intestine(1)											82.0	76.0	78.0					1																	6191703		2203	4300	6503	SO:0001583	missense	0			AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"""Zinc fingers, PHD-type"""	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.3250G>A	1.37:g.6191703C>T	ENSP00000262450:p.Asp1084Asn		A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP	pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.D1084N	ENST00000262450.3	37	c.3250	CCDS57.1	1	.	.	.	.	.	.	.	.	.	.	C	18.58	3.654638	0.67472	.	.	ENSG00000116254	ENST00000262450;ENST00000378006;ENST00000536802;ENST00000538279	D	0.91180	-2.8	5.09	4.16	0.48862	Helicase, C-terminal (3);	0.000000	0.64402	D	0.000001	D	0.91915	0.7440	L	0.39397	1.21	0.80722	D	1	D	0.65815	0.995	P	0.60012	0.867	D	0.92808	0.6262	10	0.87932	D	0	-41.5577	15.7116	0.77631	0.0:0.8625:0.1375:0.0	.	1084	Q8TDI0	CHD5_HUMAN	N	1084;600;492;492	ENSP00000262450:D1084N	ENSP00000262450:D1084N	D	-	1	0	CHD5	6114290	1.000000	0.71417	1.000000	0.80357	0.274000	0.26718	7.699000	0.84547	1.242000	0.43836	0.561000	0.74099	GAC	CHD5	-	pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C	ENSG00000116254		0.572	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD5	HGNC	protein_coding	OTTHUMT00000002823.2		0.00	15	0	C	NM_015557		6191703	-1			no_errors	ENST00000262450	ensembl	human	known	74_37	missense	5.88	48	3	SNP	1.000	T
CHD9	80205	genome.wustl.edu	37	16	53358004	53358004	+	Missense_Mutation	SNP	G	G	A			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr16:53358004G>A	ENST00000398510.3	+	38	7978	c.7891G>A	c.(7891-7893)Ggg>Agg	p.G2631R	CHD9_ENST00000447540.1_Missense_Mutation_p.G2616R|CHD9_ENST00000566029.1_Missense_Mutation_p.G2615R|CHD9_ENST00000564845.1_Missense_Mutation_p.G2615R			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	2631					cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				AAGCAGGCGGGGGAGACGGCC	0.463																																																	0													95.0	97.0	96.0					16																	53358004		1898	4119	6017	SO:0001583	missense	0			AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.7891G>A	16.37:g.53358004G>A	ENSP00000381522:p.Gly2631Arg		B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.G2631R	ENST00000398510.3	37	c.7891		16	.	.	.	.	.	.	.	.	.	.	G	19.37	3.814574	0.70912	.	.	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000450543	D	0.90504	-2.68	5.23	5.23	0.72850	.	0.117014	0.37955	N	0.001877	D	0.94745	0.8304	M	0.69358	2.11	0.80722	D	1	D;D;D;D	0.89917	1.0;0.989;1.0;1.0	D;P;D;D	0.97110	0.999;0.892;0.999;1.0	D	0.93856	0.7149	10	0.41790	T	0.15	-9.5416	19.1688	0.93569	0.0:0.0:1.0:0.0	.	697;2616;2631;2615	C9JR69;Q3L8U1-3;Q3L8U1;Q3L8U1-2	.;.;CHD9_HUMAN;.	R	2616;2615;697	ENSP00000396345:G2616R	ENSP00000381522:G2615R	G	+	1	0	CHD9	51915505	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	9.741000	0.98843	2.613000	0.88420	0.655000	0.94253	GGG	CHD9	-	NULL	ENSG00000177200		0.463	CHD9-020	KNOWN	basic	protein_coding	CHD9	HGNC	protein_coding	OTTHUMT00000422345.1	-	0.00	19	0	G	NM_025134		53358004	+1	tier1	-	no_errors	ENST00000398510	ensembl	human	known	74_37	missense	31.25	44	20	SNP	1.000	A
CHRNA4	1137	genome.wustl.edu	37	20	61981753	61981753	+	Missense_Mutation	SNP	G	G	A	rs201673381		TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr20:61981753G>A	ENST00000370263.4	-	5	1231	c.1010C>T	c.(1009-1011)aCg>aTg	p.T337M	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	337					action potential (GO:0001508)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|cognition (GO:0050890)|DNA repair (GO:0006281)|exploration behavior (GO:0035640)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|neurological system process (GO:0050877)|regulation of dopamine secretion (GO:0014059)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of membrane potential (GO:0042391)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|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)|ligand-gated ion channel activity (GO:0015276)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Nicotine(DB00184)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)|Varenicline(DB01273)	CATGGTGTGCGTGCGTGGCGA	0.622																																																	0								G	MET/THR	0,4406		0,0,2203	171.0	120.0	137.0		1010	5.2	0.9	20		137	1,8599	1.2+/-3.3	0,1,4299	no	missense	CHRNA4	NM_000744.5	81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	337/628	61981753	1,13005	2203	4300	6503	SO:0001583	missense	0				CCDS13517.1	20q13.33	2013-09-20	2012-02-07		ENSG00000101204	ENSG00000101204		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1958	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 4 (neuronal)"""	118504	"""cholinergic receptor, nicotinic, alpha polypeptide 4"""	EBN, EBN1		1505988	Standard	NM_000744		Approved	BFNC	uc002yes.3	P43681	OTTHUMG00000033080	ENST00000370263.4:c.1010C>T	20.37:g.61981753G>A	ENSP00000359285:p.Thr337Met		Q4JGR7|Q4VAQ5|Q4VAQ6	Missense_Mutation	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.T337M	ENST00000370263.4	37	c.1010	CCDS13517.1	20	.	.	.	.	.	.	.	.	.	.	G	22.8	4.338663	0.81911	0.0	1.16E-4	ENSG00000101204	ENST00000370258;ENST00000370263;ENST00000539366	D	0.87809	-2.3	5.15	5.15	0.70609	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.93828	0.8026	M	0.80332	2.49	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.991	D	0.94476	0.7689	10	0.72032	D	0.01	.	18.6226	0.91326	0.0:0.0:1.0:0.0	.	266;337	Q4VAQ5;P43681	.;ACHA4_HUMAN	M	243;337;266	ENSP00000359285:T337M	ENSP00000359280:T243M	T	-	2	0	CHRNA4	61452197	1.000000	0.71417	0.937000	0.37676	0.574000	0.36063	7.777000	0.85628	2.390000	0.81377	0.655000	0.94253	ACG	CHRNA4	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel	ENSG00000101204		0.622	CHRNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNA4	HGNC	protein_coding	OTTHUMT00000080508.3	-	0.00	18	0	G			61981753	-1	tier1	rs201673381	no_errors	ENST00000370263	ensembl	human	known	74_37	missense	18.00	40	9	SNP	1.000	A
CIC	23152	genome.wustl.edu	37	19	42792111	42792112	+	Frame_Shift_Ins	INS	-	-	GCTG			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr19:42792111_42792112insGCTG	ENST00000575354.2	+	6	955_956	c.915_916insGCTG	c.(916-918)gctfs	p.-306fs	CIC_ENST00000572681.2_Frame_Shift_Ins_p.-1215fs|CIC_ENST00000160740.3_Frame_Shift_Ins_p.-306fs	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.A306T(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				AGACGGGCACTGCTGCTGCCCC	0.683			"""Mis, F, S"""		oligodendroglioma																																			Rec	yes		19	19q13.2	23152	capicua homolog		O	1	Substitution - Missense(1)	central_nervous_system(1)																																								SO:0001589	frameshift_variant	0			AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.916_919dupGCTG	19.37:g.42792112_42792115dupGCTG	ENSP00000458663:p.Ala306fs		Q7LGI1|Q9UEG5|Q9Y6T1	Frame_Shift_Ins	INS	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.A306fs	ENST00000575354.2	37	c.915_916	CCDS12601.1	19																																																																																			CIC	-	NULL	ENSG00000079432		0.683	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CIC	HGNC	protein_coding	OTTHUMT00000438532.2		0.00	10	0	-			42792112	+1	tier1		no_errors	ENST00000575354	ensembl	human	known	74_37	frame_shift_ins	25.00	27	9	INS	0.993:0.993	GCTG
CKAP5	9793	genome.wustl.edu	37	11	46829606	46829606	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr11:46829606G>T	ENST00000529230.1	-	8	999	c.953C>A	c.(952-954)gCa>gAa	p.A318E	CKAP5_ENST00000415402.1_Missense_Mutation_p.A318E|CKAP5_ENST00000312055.5_Missense_Mutation_p.A318E|CKAP5_ENST00000354558.3_Missense_Mutation_p.A318E			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	318					centrosome organization (GO:0051297)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|RNA transport (GO:0050658)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|protein complex (GO:0043234)|spindle pole (GO:0000922)				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						TACTAAATCTGCATAATCGCC	0.388																																					Ovarian(4;85 273 2202 4844 13323)												0													234.0	242.0	240.0					11																	46829606		2201	4299	6500	SO:0001583	missense	0				CCDS7924.1, CCDS31477.1	11p11.2	2006-09-20			ENSG00000175216	ENSG00000175216			28959	protein-coding gene	gene with protein product		611142				7788527, 8536682	Standard	NM_014756		Approved	ch-TOG, KIAA0097, TOG, TOGp	uc001ndi.2	Q14008	OTTHUMG00000166599	ENST00000529230.1:c.953C>A	11.37:g.46829606G>T	ENSP00000432768:p.Ala318Glu		Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	Missense_Mutation	SNP	pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,superfamily_Homing_endonucl,pfscan_HEAT_type_2	p.A318E	ENST00000529230.1	37	c.953	CCDS31477.1	11	.	.	.	.	.	.	.	.	.	.	G	19.26	3.793179	0.70452	.	.	ENSG00000175216	ENST00000529230;ENST00000415402;ENST00000312055;ENST00000354558	T;T;T;T	0.52295	0.67;0.67;0.67;0.67	5.55	5.55	0.83447	Armadillo-like helical (1);Armadillo-type fold (1);	0.094208	0.64402	D	0.000001	T	0.41604	0.1166	L	0.35854	1.095	0.50313	D	0.999862	B;B;B	0.23058	0.069;0.02;0.079	B;B;B	0.24006	0.05;0.05;0.046	T	0.19712	-1.0297	10	0.18710	T	0.47	.	19.5041	0.95108	0.0:0.0:1.0:0.0	.	318;318;318	Q14008-3;Q14008-2;Q14008	.;.;CKAP5_HUMAN	E	318	ENSP00000432768:A318E;ENSP00000395302:A318E;ENSP00000310227:A318E;ENSP00000346566:A318E	ENSP00000310227:A318E	A	-	2	0	CKAP5	46786182	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.089000	0.71384	2.614000	0.88457	0.561000	0.74099	GCA	CKAP5	-	pfam_CLASP_N_dom,superfamily_ARM-type_fold	ENSG00000175216		0.388	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CKAP5	HGNC	protein_coding	OTTHUMT00000390679.1		0.00	21	0	G	NM_014756		46829606	-1			no_errors	ENST00000415402	ensembl	human	known	74_37	missense	6.10	77	5	SNP	1.000	T
CLEC9A	283420	genome.wustl.edu	37	12	10205420	10205421	+	Intron	INS	-	-	T	rs375899502		TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr12:10205420_10205421insT	ENST00000355819.1	+	4	704				CLEC9A_ENST00000544751.1_3'UTR	NM_207345.2	NP_997228.1	Q6UXN8	CLC9A_HUMAN	C-type lectin domain family 9, member A						positive regulation of cytokine secretion (GO:0050715)|receptor-mediated endocytosis (GO:0006898)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	22						TAGAGTTCATGTTTTTTTTTTT	0.376																																																	0																																										SO:0001627	intron_variant	0				CCDS8611.1	12p13.31	2010-04-27				ENSG00000197992		"""C-type lectin domain containing"""	26705	protein-coding gene	gene with protein product		612252					Standard	NM_207345		Approved	UNQ9341, HEEE9341	uc001qxa.3	Q6UXN8		ENST00000355819.1:c.91+43->T	12.37:g.10205431_10205431dupT			B0ZBM2	RNA	INS	-	NULL	ENST00000355819.1	37	NULL	CCDS8611.1	12																																																																																			CLEC9A	-	-	ENSG00000197992		0.376	CLEC9A-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	CLEC9A	HGNC	protein_coding	OTTHUMT00000399564.1		0.00	11	0	-	NM_207345		10205421	+1	tier1		no_errors	ENST00000544751	ensembl	human	known	74_37	rna	12.12	29	4	INS	0.000:0.000	T
CLEC9A	283420	genome.wustl.edu	37	12	10205420	10205421	+	Intron	INS	-	-	TT	rs375899502		TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr12:10205420_10205421insTT	ENST00000355819.1	+	4	704				CLEC9A_ENST00000544751.1_3'UTR	NM_207345.2	NP_997228.1	Q6UXN8	CLC9A_HUMAN	C-type lectin domain family 9, member A						positive regulation of cytokine secretion (GO:0050715)|receptor-mediated endocytosis (GO:0006898)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	22						TAGAGTTCATGTTTTTTTTTTT	0.376																																																	0																																										SO:0001627	intron_variant	0				CCDS8611.1	12p13.31	2010-04-27				ENSG00000197992		"""C-type lectin domain containing"""	26705	protein-coding gene	gene with protein product		612252					Standard	NM_207345		Approved	UNQ9341, HEEE9341	uc001qxa.3	Q6UXN8		ENST00000355819.1:c.91+43->TT	12.37:g.10205429_10205430dupTT			B0ZBM2	RNA	INS	-	NULL	ENST00000355819.1	37	NULL	CCDS8611.1	12																																																																																			CLEC9A	-	-	ENSG00000197992		0.376	CLEC9A-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	CLEC9A	HGNC	protein_coding	OTTHUMT00000399564.1		0.00	11	0	-	NM_207345		10205421	+1	tier1		no_errors	ENST00000544751	ensembl	human	known	74_37	rna	6.06	31	2	INS	0.000:0.000	TT
CLIP4	79745	genome.wustl.edu	37	2	29386778	29386778	+	Missense_Mutation	SNP	C	C	A			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr2:29386778C>A	ENST00000320081.5	+	13	1871	c.1616C>A	c.(1615-1617)tCt>tAt	p.S539Y	CLIP4_ENST00000401617.2_Missense_Mutation_p.S432Y|CLIP4_ENST00000404424.1_Missense_Mutation_p.S539Y|CLIP4_ENST00000401605.1_Missense_Mutation_p.S539Y	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family, member 4	539	CAP-Gly 2. {ECO:0000255|PROSITE- ProRule:PRU00045}.									endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					TTTAGCTGTTCTCCAAGATAT	0.378																																																	0													130.0	119.0	123.0					2																	29386778		2203	4300	6503	SO:0001583	missense	0			AK024722	CCDS1770.1, CCDS74502.1	2p23	2013-01-10	2007-01-04	2007-01-04	ENSG00000115295	ENSG00000115295		"""Ankyrin repeat domain containing"""	26108	protein-coding gene	gene with protein product			"""restin-like 2"""	RSNL2			Standard	XM_005264562		Approved	FLJ21069	uc002rmv.3	Q8N3C7	OTTHUMG00000097837	ENST00000320081.5:c.1616C>A	2.37:g.29386778C>A	ENSP00000327009:p.Ser539Tyr		A0AV10|B2RMQ3|B7Z7N8|Q7Z4U3|Q96BR7|Q96MA5|Q9H7C0	Missense_Mutation	SNP	pfam_CAP-Gly_domain,pfam_Ankyrin_rpt,superfamily_CAP-Gly_domain,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_CAP-Gly_domain	p.S539Y	ENST00000320081.5	37	c.1616	CCDS1770.1	2	.	.	.	.	.	.	.	.	.	.	C	18.82	3.705343	0.68615	.	.	ENSG00000115295	ENST00000401605;ENST00000401617;ENST00000404424;ENST00000402240;ENST00000320081;ENST00000379543;ENST00000530644	T;T;T;T	0.75154	-0.91;-0.91;-0.91;-0.91	6.06	5.12	0.69794	Cytoskeleton-associated protein, Gly-rich domain (4);	0.256618	0.40064	N	0.001184	D	0.83575	0.5284	M	0.86178	2.8	0.31833	N	0.624444	D	0.54397	0.966	P	0.52267	0.694	D	0.87236	0.2263	10	0.72032	D	0.01	.	17.1253	0.86712	0.1349:0.8651:0.0:0.0	.	539	Q8N3C7	CLIP4_HUMAN	Y	539;432;539;541;539;557;499	ENSP00000384242:S539Y;ENSP00000385148:S432Y;ENSP00000385594:S539Y;ENSP00000327009:S539Y	ENSP00000327009:S539Y	S	+	2	0	CLIP4	29240282	0.992000	0.36948	1.000000	0.80357	0.971000	0.66376	2.369000	0.44231	2.880000	0.98712	0.650000	0.86243	TCT	CLIP4	-	pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain	ENSG00000115295		0.378	CLIP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLIP4	HGNC	protein_coding	OTTHUMT00000215123.2		0.00	14	0	C	NM_024692		29386778	+1			no_errors	ENST00000320081	ensembl	human	known	74_37	missense	11.76	45	6	SNP	0.998	A
CMYA5	202333	genome.wustl.edu	37	5	79027241	79027241	+	Missense_Mutation	SNP	G	G	A			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr5:79027241G>A	ENST00000446378.2	+	2	2684	c.2653G>A	c.(2653-2655)Gaa>Aaa	p.E885K		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	885					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TCTATCAGACGAAGAGGCAGT	0.483																																																	0													76.0	74.0	75.0					5																	79027241		1981	4155	6136	SO:0001583	missense	0			AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.2653G>A	5.37:g.79027241G>A	ENSP00000394770:p.Glu885Lys		A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3	p.E885K	ENST00000446378.2	37	c.2653	CCDS47238.1	5	.	.	.	.	.	.	.	.	.	.	G	13.29	2.194245	0.38806	.	.	ENSG00000164309	ENST00000446378	T	0.51325	0.71	5.87	4.99	0.66335	.	0.366647	0.23342	N	0.049232	T	0.42899	0.1223	M	0.77820	2.39	0.09310	N	1	P	0.47106	0.89	B	0.35655	0.207	T	0.53753	-0.8394	10	0.40728	T	0.16	.	8.8144	0.34987	0.0807:0.1497:0.7695:0.0	.	885	Q8N3K9	CMYA5_HUMAN	K	885	ENSP00000394770:E885K	ENSP00000394770:E885K	E	+	1	0	CMYA5	79062997	0.689000	0.27690	0.155000	0.22561	0.063000	0.16089	3.521000	0.53472	2.791000	0.96007	0.655000	0.94253	GAA	CMYA5	-	NULL	ENSG00000164309		0.483	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CMYA5	HGNC	protein_coding	OTTHUMT00000369497.1	-	0.00	9	0	G	NM_153610		79027241	+1	tier1	-	no_errors	ENST00000446378	ensembl	human	known	74_37	missense	26.67	33	12	SNP	0.055	A
CNGB1	1258	genome.wustl.edu	37	16	57996893	57996893	+	Silent	SNP	C	C	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr16:57996893C>T	ENST00000251102.8	-	5	426	c.366G>A	c.(364-366)acG>acA	p.T122T	CNGB1_ENST00000564448.1_Silent_p.T122T|CNGB1_ENST00000311183.4_Silent_p.T122T	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	122					cation transport (GO:0006812)|cytosolic calcium ion homeostasis (GO:0051480)|detection of light stimulus involved in visual perception (GO:0050908)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|protein heterotetramerization (GO:0051290)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina homeostasis (GO:0001895)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of smell (GO:0007608)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|intracellular cyclic nucleotide activated cation channel complex (GO:0017071)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|transmembrane transporter complex (GO:1902495)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						CCGGGTCCTCCGTGATGCTGT	0.657																																					Colon(156;1293 1853 16336 28962 38659)												0													85.0	82.0	83.0					16																	57996893		2040	4193	6233	SO:0001819	synonymous_variant	0			AF042498	CCDS42169.1, CCDS45495.1, CCDS67042.1	16q13	2013-02-14			ENSG00000070729	ENSG00000070729		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2151	protein-coding gene	gene with protein product	"""glutamic acid-rich protein"""	600724		CNCG2, CNCG3L		8766832, 7590744, 16382102	Standard	NM_001297		Approved	RCNC2, RCNCb, GARP, GAR1, CNGB1B, RP45	uc002emt.2	Q14028	OTTHUMG00000154810	ENST00000251102.8:c.366G>A	16.37:g.57996893C>T			H3BN09|O43636|Q13059|Q14029|Q9UMG2	Silent	SNP	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.T122	ENST00000251102.8	37	c.366	CCDS42169.1	16																																																																																			CNGB1	-	NULL	ENSG00000070729		0.657	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNGB1	HGNC	protein_coding	OTTHUMT00000337167.2	-	0.00	37	0	C	NM_001297		57996893	-1	tier1	-	no_errors	ENST00000251102	ensembl	human	known	74_37	silent	20.35	90	23	SNP	0.001	T
CNGB3	54714	genome.wustl.edu	37	8	87751944	87751944	+	Silent	SNP	C	C	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr8:87751944C>T	ENST00000320005.5	-	2	197	c.150G>A	c.(148-150)gaG>gaA	p.E50E	RP11-386D6.1_ENST00000519041.1_RNA|CNGB3_ENST00000519777.1_5'UTR	NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	50					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						TGAGAGATTTCTCTTCACCTT	0.323																																																	0													170.0	146.0	154.0					8																	87751944		2203	4300	6503	SO:0001819	synonymous_variant	0			AF228520	CCDS6244.1	8q21.3	2013-01-23	2003-06-25		ENSG00000170289	ENSG00000170289		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2153	protein-coding gene	gene with protein product		605080	"""achromatopsia (rod monochromacy) 3"", ""achromatopsia (rod monochromacy) 1"""	ACHM3, ACHM1, RMCH		10888875, 10958649, 16382102	Standard	NM_019098		Approved		uc003ydx.3	Q9NQW8	OTTHUMG00000163738	ENST00000320005.5:c.150G>A	8.37:g.87751944C>T			C9JA51|Q9NRE9	Silent	SNP	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.E50	ENST00000320005.5	37	c.150	CCDS6244.1	8																																																																																			CNGB3	-	NULL	ENSG00000170289		0.323	CNGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNGB3	HGNC	protein_coding	OTTHUMT00000375107.1		0.00	14	0	C	NM_019098		87751944	-1			no_errors	ENST00000320005	ensembl	human	known	74_37	silent	10.81	33	4	SNP	0.087	T
CNTN4	152330	genome.wustl.edu	37	3	3095632	3095632	+	Missense_Mutation	SNP	G	G	C			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr3:3095632G>C	ENST00000397461.1	+	23	3337	c.2953G>C	c.(2953-2955)Gaa>Caa	p.E985Q	CNTN4_ENST00000418658.1_Missense_Mutation_p.E985Q|CNTN4_ENST00000427331.1_Missense_Mutation_p.E985Q|CNTN4_ENST00000448906.2_Missense_Mutation_p.E657Q|CNTN4-AS1_ENST00000442749.2_RNA|CNTN4_ENST00000397459.2_Missense_Mutation_p.E657Q|CNTN4_ENST00000358480.3_Missense_Mutation_p.E766Q	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	985	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		CAGCAGCAGTGAACAAATTCG	0.403																																																	0													109.0	116.0	114.0					3																	3095632		2203	4300	6503	SO:0001583	missense	0			AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.2953G>C	3.37:g.3095632G>C	ENSP00000380602:p.Glu985Gln		B2RAX3|Q8IX14|Q8TC35	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.E985Q	ENST00000397461.1	37	c.2953	CCDS43041.1	3	.	.	.	.	.	.	.	.	.	.	G	12.84	2.058573	0.36277	.	.	ENSG00000144619	ENST00000418658;ENST00000397461;ENST00000427331;ENST00000358480;ENST00000397459;ENST00000448906	T;T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84;0.84	5.25	2.35	0.29111	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.476125	0.21497	N	0.073591	T	0.53270	0.1786	M	0.78049	2.395	0.36815	D	0.886112	B;B	0.18013	0.025;0.014	B;B	0.28553	0.091;0.017	T	0.59182	-0.7502	10	0.52906	T	0.07	.	16.1031	0.81201	0.0:0.3789:0.6211:0.0	.	984;985	Q8IWV2-3;Q8IWV2	.;CNTN4_HUMAN	Q	985;985;985;766;657;657	ENSP00000396010:E985Q;ENSP00000380602:E985Q;ENSP00000413642:E985Q;ENSP00000351267:E766Q;ENSP00000380600:E657Q;ENSP00000392077:E657Q	ENSP00000351267:E766Q	E	+	1	0	CNTN4	3070632	0.963000	0.33076	0.825000	0.32803	0.986000	0.74619	1.178000	0.31981	0.172000	0.19760	0.655000	0.94253	GAA	CNTN4	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000144619		0.403	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN4	HGNC	protein_coding	OTTHUMT00000239236.2		0.00	10	0	G			3095632	+1			no_errors	ENST00000397461	ensembl	human	known	74_37	missense	5.56	68	4	SNP	0.998	C
COL16A1	1307	genome.wustl.edu	37	1	32164106	32164106	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr1:32164106G>T	ENST00000373672.3	-	5	884	c.368C>A	c.(367-369)aCc>aAc	p.T123N	COL16A1_ENST00000373668.3_Missense_Mutation_p.T123N|COL16A1_ENST00000271069.6_Missense_Mutation_p.T123N	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	123	Laminin G-like.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female pregnancy (GO:0007565)|integrin-mediated signaling pathway (GO:0007229)	collagen type XVI trimer (GO:0005597)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		ATTTGCATCGGTCACTTGAAA	0.552																																					Colon(143;498 1786 21362 25193 36625)												0													128.0	132.0	130.0					1																	32164106		2029	4186	6215	SO:0001583	missense	0			M92642	CCDS41297.1	1p35-p34	2013-01-16			ENSG00000084636	ENSG00000084636		"""Collagens"""	2193	protein-coding gene	gene with protein product		120326				1631157	Standard	NM_001856		Approved		uc001btk.1	Q07092	OTTHUMG00000003883	ENST00000373672.3:c.368C>A	1.37:g.32164106G>T	ENSP00000362776:p.Thr123Asn		Q16593|Q59F89|Q71RG9	Missense_Mutation	SNP	pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	p.T123N	ENST00000373672.3	37	c.368	CCDS41297.1	1	.	.	.	.	.	.	.	.	.	.	G	12.95	2.092245	0.36952	.	.	ENSG00000084636	ENST00000373672;ENST00000271069;ENST00000373668	T;T;T	0.71698	-0.59;-0.59;-0.59	4.7	3.78	0.43462	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G, thrombospondin-type, N-terminal (1);	0.245360	0.35555	N	0.003137	T	0.69762	0.3147	L	0.29908	0.895	0.30819	N	0.738045	D;B	0.69078	0.997;0.308	P;B	0.61003	0.882;0.127	T	0.70281	-0.4915	10	0.87932	D	0	.	7.9464	0.29989	0.0882:0.1619:0.7499:0.0	.	123;123	A6NCT7;Q07092	.;COGA1_HUMAN	N	123	ENSP00000362776:T123N;ENSP00000271069:T123N;ENSP00000362772:T123N	ENSP00000271069:T123N	T	-	2	0	COL16A1	31936693	0.995000	0.38212	0.863000	0.33907	0.577000	0.36160	2.350000	0.44063	1.339000	0.45563	0.561000	0.74099	ACC	COL16A1	-	superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	ENSG00000084636		0.552	COL16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL16A1	HGNC	protein_coding	OTTHUMT00000011057.2		0.00	25	0	G	NM_001856		32164106	-1			no_errors	ENST00000271069	ensembl	human	known	74_37	missense	6.78	55	4	SNP	0.826	T
COL11A1	1301	genome.wustl.edu	37	1	103364237	103364237	+	Silent	SNP	G	G	T	rs139726483		TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr1:103364237G>T	ENST00000370096.3	-	56	4545	c.4233C>A	c.(4231-4233)ggC>ggA	p.G1411G	COL11A1_ENST00000358392.2_Silent_p.G1423G|COL11A1_ENST00000512756.1_Silent_p.G1295G|COL11A1_ENST00000353414.4_Silent_p.G1372G	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1411	Collagen-like 6.|Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GACCAGGGATGCCCCGAAGAC	0.463																																																	0													45.0	48.0	47.0					1																	103364237		2203	4300	6503	SO:0001819	synonymous_variant	0			J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.4233C>A	1.37:g.103364237G>T			B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Silent	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.G1423	ENST00000370096.3	37	c.4269	CCDS778.1	1																																																																																			COL11A1	-	pfam_Collagen	ENSG00000060718		0.463	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COL11A1	HGNC	protein_coding	OTTHUMT00000029997.1	-	0.00	25	0	G	NM_080630		103364237	-1	tier1	-	no_errors	ENST00000358392	ensembl	human	known	74_37	silent	16.03	110	21	SNP	1.000	T
COL21A1	81578	genome.wustl.edu	37	6	56035613	56035613	+	Missense_Mutation	SNP	T	T	C			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr6:56035613T>C	ENST00000244728.5	-	5	1257	c.860A>G	c.(859-861)cAa>cGa	p.Q287R	COL21A1_ENST00000370819.1_Missense_Mutation_p.Q287R|COL21A1_ENST00000535941.1_Missense_Mutation_p.Q287R	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	287	Laminin G-like.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			TTTAAATCTTTGAGTAGACAC	0.343																																																	0													65.0	57.0	60.0					6																	56035613		1818	4072	5890	SO:0001583	missense	0			AF330693	CCDS55025.1	6p12.3-p11.2	2013-01-16			ENSG00000124749	ENSG00000124749		"""Collagens"""	17025	protein-coding gene	gene with protein product		610002				11566190	Standard	XR_241922		Approved		uc003pcs.3	Q96P44	OTTHUMG00000014907	ENST00000244728.5:c.860A>G	6.37:g.56035613T>C	ENSP00000244728:p.Gln287Arg		A6NIX5|B2R8J9|Q49A51|Q71RF4|Q8WXV8|Q9H0V3	Missense_Mutation	SNP	pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl_sf,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A	p.Q287R	ENST00000244728.5	37	c.860	CCDS55025.1	6	.	.	.	.	.	.	.	.	.	.	T	13.52	2.261124	0.39995	.	.	ENSG00000124749	ENST00000244728;ENST00000370819;ENST00000535941;ENST00000370811	T;T;T	0.13420	2.59;2.59;2.59	4.66	3.47	0.39725	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.133858	0.33477	N	0.004872	T	0.14141	0.0342	L	0.57536	1.79	0.80722	D	1	D;D	0.62365	0.991;0.971	P;P	0.56751	0.805;0.491	T	0.01172	-1.1429	10	0.66056	D	0.02	.	8.8453	0.35166	0.2999:0.0:0.0:0.7001	.	287;287	Q96P44-3;Q96P44	.;COLA1_HUMAN	R	287	ENSP00000244728:Q287R;ENSP00000359855:Q287R;ENSP00000444384:Q287R	ENSP00000244728:Q287R	Q	-	2	0	COL21A1	56143572	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	3.832000	0.55783	0.611000	0.30052	0.482000	0.46254	CAA	COL21A1	-	superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	ENSG00000124749		0.343	COL21A1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	COL21A1	HGNC	protein_coding	OTTHUMT00000041004.2		0.00	9	0	T			56035613	-1			no_errors	ENST00000244728	ensembl	human	known	74_37	missense	6.35	59	4	SNP	1.000	C
COL4A6	1288	genome.wustl.edu	37	X	107464499	107464499	+	Silent	SNP	G	G	A			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chrX:107464499G>A	ENST00000372216.4	-	4	353	c.253C>T	c.(253-255)Ctg>Ttg	p.L85L	COL4A6_ENST00000538570.1_Silent_p.L84L|COL4A6_ENST00000545689.1_Silent_p.L84L|COL4A6_ENST00000334504.7_Silent_p.L84L|COL4A6_ENST00000394872.2_Silent_p.L84L	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	85	Triple-helical region.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						TAAGGTCCCAGAAGGCCTGGG	0.468									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)												0													165.0	143.0	151.0					X																	107464499		2203	4300	6503	SO:0001819	synonymous_variant	0	Familial Cancer Database		U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"""Collagens"""	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.253C>T	X.37:g.107464499G>A			Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Silent	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.L85	ENST00000372216.4	37	c.253	CCDS14541.1	X																																																																																			COL4A6	-	pfam_Collagen	ENSG00000197565		0.468	COL4A6-001	KNOWN	basic|CCDS	protein_coding	COL4A6	HGNC	protein_coding	OTTHUMT00000057875.2	-	0.00	10	0	G			107464499	-1	tier1	-	no_errors	ENST00000372216	ensembl	human	known	74_37	silent	54.55	20	24	SNP	0.266	A
COL6A3	1293	genome.wustl.edu	37	2	238263551	238263551	+	Silent	SNP	G	G	A	rs201814201	byFrequency	TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr2:238263551G>A	ENST00000295550.4	-	24	7070	c.6618C>T	c.(6616-6618)ccC>ccT	p.P2206P	COL6A3_ENST00000346358.4_Silent_p.P2006P|COL6A3_ENST00000347401.3_Silent_p.P2005P|COL6A3_ENST00000409809.1_Silent_p.P2000P|COL6A3_ENST00000353578.4_Silent_p.P2000P|COL6A3_ENST00000472056.1_Silent_p.P1599P	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2206	Collagen-like 3.|Triple-helical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.P2206P(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CCTTAGCTCCGGGGGGTCCCC	0.597													G|||	10	0.00199681	0.0	0.0	5008	,	,		16543	0.0		0.001	False		,,,				2504	0.0092																1	Substitution - coding silent(1)	lung(1)											24.0	26.0	25.0					2																	238263551		2203	4300	6503	SO:0001819	synonymous_variant	0			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.6618C>T	2.37:g.238263551G>A			A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Silent	SNP	pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.P2206	ENST00000295550.4	37	c.6618	CCDS33412.1	2																																																																																			COL6A3	-	NULL	ENSG00000163359		0.597	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A3	HGNC	protein_coding	OTTHUMT00000315790.2		0.00	28	0	G	NM_004369		238263551	-1			no_errors	ENST00000295550	ensembl	human	known	74_37	silent	5.26	72	4	SNP	0.001	A
COMMD6	170622	genome.wustl.edu	37	13	76104340	76104340	+	Silent	SNP	C	C	T	rs1063483		TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr13:76104340C>T	ENST00000377615.3	-	4	281	c.117G>A	c.(115-117)aaG>aaA	p.K39K	COMMD6_ENST00000377619.5_Silent_p.K54K|COMMD6_ENST00000406936.3_Silent_p.K39K|COMMD6_ENST00000355801.4_Silent_p.K39K|COMMD6_ENST00000460675.1_5'UTR			Q7Z4G1	COMD6_HUMAN	COMM domain containing 6	39	COMM. {ECO:0000255|PROSITE- ProRule:PRU00602}.				negative regulation of NF-kappaB transcription factor activity (GO:0032088)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	NF-kappaB binding (GO:0051059)			breast(1)|lung(1)|urinary_tract(1)	3		Breast(118;0.0979)|Prostate(6;0.122)		GBM - Glioblastoma multiforme(99;0.0104)		CGTAAGGATACTTAAGAGATC	0.388																																																	0													125.0	112.0	116.0					13																	76104340		2203	4300	6503	SO:0001819	synonymous_variant	0			AY542161	CCDS9451.1, CCDS9452.1	13q22	2004-02-18			ENSG00000188243	ENSG00000188243			24015	protein-coding gene	gene with protein product		612377				15799966	Standard	NM_203497		Approved	Acrg	uc001vjn.1	Q7Z4G1	OTTHUMG00000017089	ENST00000377615.3:c.117G>A	13.37:g.76104340C>T			A6NF28|B7ZLN0|Q5TBK4	Silent	SNP	pfam_HCaRG	p.K39	ENST00000377615.3	37	c.117	CCDS9451.1	13																																																																																			COMMD6	-	pfam_HCaRG	ENSG00000188243		0.388	COMMD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COMMD6	HGNC	protein_coding	OTTHUMT00000045288.4		0.00	13	0	C	XM_085023		76104340	-1			no_errors	ENST00000355801	ensembl	human	known	74_37	silent	9.76	37	4	SNP	0.992	T
CORO1B	57175	genome.wustl.edu	37	11	67210002	67210002	+	Missense_Mutation	SNP	C	C	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr11:67210002C>T	ENST00000341356.5	-	2	208	c.98G>A	c.(97-99)cGt>cAt	p.R33H	CORO1B_ENST00000539724.1_5'Flank|CORO1B_ENST00000393893.1_Missense_Mutation_p.R33H|CORO1B_ENST00000453768.2_Missense_Mutation_p.R33H|CORO1B_ENST00000545016.1_Missense_Mutation_p.R33H	NM_020441.2	NP_065174.1	Q9BR76	COR1B_HUMAN	coronin, actin binding protein, 1B	33					actin cytoskeleton organization (GO:0030036)|actin filament branching (GO:0090135)|actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|endothelial cell chemotaxis (GO:0035767)|negative regulation of Arp2/3 complex-mediated actin nucleation (GO:0034316)|positive regulation of lamellipodium morphogenesis (GO:2000394)|protein localization to cell leading edge (GO:1902463)|ruffle organization (GO:0031529)|wound healing (GO:0042060)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)|Arp2/3 complex binding (GO:0071933)|identical protein binding (GO:0042802)			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			CCAGGTAACACGGGACACGCG	0.602																																																	0													128.0	93.0	105.0					11																	67210002		2199	4295	6494	SO:0001583	missense	0			AK000860	CCDS8164.1	11q13.1	2013-01-10	2001-11-28		ENSG00000172725	ENSG00000172725		"""Coronins"", ""WD repeat domain containing"""	2253	protein-coding gene	gene with protein product		609849	"""coronin, actin-binding protein, 1B"""			9778037	Standard	NM_001018070		Approved	coronin-2	uc001olk.1	Q9BR76	OTTHUMG00000167775	ENST00000341356.5:c.98G>A	11.37:g.67210002C>T	ENSP00000340211:p.Arg33His		B2RD45	Missense_Mutation	SNP	pfam_DUF1900,pfam_DUF1899,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R33H	ENST00000341356.5	37	c.98	CCDS8164.1	11	.	.	.	.	.	.	.	.	.	.	C	25.6	4.650205	0.87958	.	.	ENSG00000172725	ENST00000393893;ENST00000341356;ENST00000393886;ENST00000453768;ENST00000545016	T;T;T;T	0.77877	0.02;0.02;1.59;-1.13	4.31	4.31	0.51392	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);Domain of unknown function DUF1899 (1);	0.000000	0.44285	D	0.000474	D	0.84325	0.5447	L	0.54965	1.715	0.54753	D	0.999984	D;D;D	0.67145	0.985;0.978;0.996	P;P;D	0.65140	0.806;0.796;0.932	D	0.85440	0.1154	10	0.52906	T	0.07	-13.6447	16.9526	0.86249	0.0:1.0:0.0:0.0	.	33;33;33	E7EW44;F5H0D2;Q9BR76	.;.;COR1B_HUMAN	H	33;33;60;33;33	ENSP00000377471:R33H;ENSP00000340211:R33H;ENSP00000416006:R33H;ENSP00000438056:R33H	ENSP00000340211:R33H	R	-	2	0	CORO1B	66966578	0.843000	0.29541	1.000000	0.80357	0.996000	0.88848	1.506000	0.35747	2.372000	0.80975	0.563000	0.77884	CGT	CORO1B	-	pfam_DUF1899,superfamily_WD40_repeat_dom	ENSG00000172725		0.602	CORO1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CORO1B	HGNC	protein_coding	OTTHUMT00000396220.1		0.00	12	0	C	NM_020441		67210002	-1			no_errors	ENST00000341356	ensembl	human	known	74_37	missense	10.81	33	4	SNP	1.000	T
CSF2RB	1439	genome.wustl.edu	37	22	37333909	37333909	+	Missense_Mutation	SNP	G	G	C			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr22:37333909G>C	ENST00000403662.3	+	14	2281	c.2059G>C	c.(2059-2061)Gac>Cac	p.D687H	CSF2RB_ENST00000262825.5_Missense_Mutation_p.D693H|CSF2RB_ENST00000406230.1_Missense_Mutation_p.D693H|CSF2RB_ENST00000536485.1_Missense_Mutation_p.D634H			P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	687					cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)|interleukin-5-mediated signaling pathway (GO:0038043)|respiratory gaseous exchange (GO:0007585)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	granulocyte macrophage colony-stimulating factor receptor complex (GO:0030526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	GGGAGGACAGGACCAAAAGGA	0.637																																																	0													40.0	44.0	43.0					22																	37333909		2203	4300	6503	SO:0001583	missense	0			M59941	CCDS13936.1	22q12.3	2014-09-09			ENSG00000100368	ENSG00000100368		"""CD molecules"", ""Fibronectin type III domain containing"""	2436	protein-coding gene	gene with protein product		138981		IL3RB		1833064, 1424804	Standard	NM_000395		Approved	IL5RB, CD131	uc003aqa.4	P32927	OTTHUMG00000150546	ENST00000403662.3:c.2059G>C	22.37:g.37333909G>C	ENSP00000384053:p.Asp687His		Q5JZI1|Q6ICE0	Missense_Mutation	SNP	pirsf_IL3_rcpt_beta,pfam_Fibronectin_type3,pfam_IL-6_rcpt_alpha-bd,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.D693H	ENST00000403662.3	37	c.2077	CCDS13936.1	22	.	.	.	.	.	.	.	.	.	.	G	14.28	2.489143	0.44249	.	.	ENSG00000100368	ENST00000403662;ENST00000539104;ENST00000262825;ENST00000406230;ENST00000536485	D;D;D;D	0.92397	-2.52;-3.03;-3.03;-3.03	4.29	2.03	0.26663	.	1.910350	0.02581	N	0.098822	D	0.93080	0.7797	L	0.44542	1.39	0.09310	N	1	D;D	0.71674	0.998;0.997	P;P	0.61592	0.891;0.781	T	0.81688	-0.0819	10	0.52906	T	0.07	.	5.2863	0.15702	0.1127:0.2097:0.6775:0.0	.	693;687	P32927-2;P32927	.;IL3RB_HUMAN	H	687;687;693;693;634	ENSP00000384053:D687H;ENSP00000262825:D693H;ENSP00000385271:D693H;ENSP00000440003:D634H	ENSP00000262825:D693H	D	+	1	0	CSF2RB	35663855	0.012000	0.17670	0.032000	0.17829	0.093000	0.18481	1.727000	0.38095	1.169000	0.42739	0.557000	0.71058	GAC	CSF2RB	-	pirsf_IL3_rcpt_beta	ENSG00000100368		0.637	CSF2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSF2RB	HGNC	protein_coding	OTTHUMT00000318854.1		0.00	18	0	G	NM_000395		37333909	+1			no_errors	ENST00000262825	ensembl	human	known	74_37	missense	5.26	54	3	SNP	0.011	C
CTSF	8722	genome.wustl.edu	37	11	66333156	66333156	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr11:66333156G>T	ENST00000310325.5	-	8	1140	c.1031C>A	c.(1030-1032)gCc>gAc	p.A344D	ACTN3_ENST00000513398.1_RNA|ACTN3_ENST00000502692.1_RNA|CTSF_ENST00000533168.1_5'Flank	NM_003793.3	NP_003784.2	Q9UBX1	CATF_HUMAN	cathepsin F	344					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|vesicle (GO:0031982)	cysteine-type endopeptidase activity (GO:0004197)			endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	19						ATTCTTTATGGCCGAGTAGGC	0.542																																																	0													103.0	110.0	108.0					11																	66333156		2200	4295	6495	SO:0001583	missense	0			AF071749	CCDS8144.1	11q13.2	2012-02-29			ENSG00000174080	ENSG00000174080		"""Cathepsins"""	2531	protein-coding gene	gene with protein product		603539				9822672, 10318784	Standard	NM_003793		Approved	CATSF, CLN13	uc001oip.3	Q9UBX1	OTTHUMG00000167090	ENST00000310325.5:c.1031C>A	11.37:g.66333156G>T	ENSP00000310832:p.Ala344Asp		B2R964|O95240|Q9NSU4|Q9UKQ5	Missense_Mutation	SNP	pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C	p.A344D	ENST00000310325.5	37	c.1031	CCDS8144.1	11	.	.	.	.	.	.	.	.	.	.	G	14.54	2.565103	0.45694	.	.	ENSG00000174080	ENST00000310325	T	0.22743	1.94	4.83	4.83	0.62350	Peptidase C1A, papain C-terminal (2);	0.162223	0.53938	D	0.000055	T	0.34366	0.0895	L	0.32530	0.975	0.80722	D	1	D	0.67145	0.996	D	0.71870	0.975	T	0.01844	-1.1262	10	0.41790	T	0.15	.	15.8028	0.78468	0.0:0.0:1.0:0.0	.	344	Q9UBX1	CATF_HUMAN	D	344	ENSP00000310832:A344D	ENSP00000310832:A344D	A	-	2	0	CTSF	66089732	1.000000	0.71417	0.997000	0.53966	0.023000	0.10783	7.457000	0.80775	2.670000	0.90874	0.561000	0.74099	GCC	CTSF	-	pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C	ENSG00000174080		0.542	CTSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTSF	HGNC	protein_coding	OTTHUMT00000393047.1		0.00	17	0	G	NM_003793		66333156	-1			no_errors	ENST00000310325	ensembl	human	known	74_37	missense	6.06	62	4	SNP	1.000	T
CUBN	8029	genome.wustl.edu	37	10	16962050	16962050	+	Missense_Mutation	SNP	C	C	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr10:16962050C>T	ENST00000377833.4	-	44	6798	c.6733G>A	c.(6733-6735)Gct>Act	p.A2245T		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2245	CUB 16. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ATGCAATCAGCGTGCGGGGGA	0.498																																																	0													66.0	58.0	61.0					10																	16962050		2203	4300	6503	SO:0001583	missense	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.6733G>A	10.37:g.16962050C>T	ENSP00000367064:p.Ala2245Thr		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	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.A2245T	ENST00000377833.4	37	c.6733	CCDS7113.1	10	.	.	.	.	.	.	.	.	.	.	C	7.858	0.725383	0.15439	.	.	ENSG00000107611	ENST00000377833	T	0.33865	1.39	5.11	2.26	0.28386	CUB (5);	0.165153	0.28659	N	0.014565	T	0.23210	0.0561	L	0.44542	1.39	0.18873	N	0.999986	B	0.34399	0.452	B	0.25405	0.06	T	0.13575	-1.0504	10	0.19147	T	0.46	.	9.1159	0.36758	0.0:0.7023:0.0:0.2977	.	2245	O60494	CUBN_HUMAN	T	2245	ENSP00000367064:A2245T	ENSP00000367064:A2245T	A	-	1	0	CUBN	17002056	0.008000	0.16893	0.032000	0.17829	0.083000	0.17756	0.278000	0.18753	0.203000	0.20529	-0.373000	0.07131	GCT	CUBN	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000107611		0.498	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUBN	HGNC	protein_coding	OTTHUMT00000047009.1		0.00	14	0	C	NM_001081		16962050	-1			no_errors	ENST00000377833	ensembl	human	known	74_37	missense	10.39	69	8	SNP	0.085	T
CUX2	23316	genome.wustl.edu	37	12	111747999	111747999	+	Silent	SNP	C	C	T	rs368575682		TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr12:111747999C>T	ENST00000261726.6	+	15	1567	c.1413C>T	c.(1411-1413)gaC>gaT	p.D471D		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	471	Pro-rich.				cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						TGGGGCCTGACGGCACTCGGA	0.706																																																	0								C		0,3792		0,0,1896	17.0	20.0	19.0		1413	-9.6	0.0	12		19	1,8195		0,1,4097	no	coding-synonymous	CUX2	NM_015267.3		0,1,5993	TT,TC,CC		0.0122,0.0,0.0083		471/1487	111747999	1,11987	1896	4098	5994	SO:0001819	synonymous_variant	0			AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"""Homeoboxes / CUT class"""	19347	protein-coding gene	gene with protein product		610648	"""cut-like 2 (Drosophila)"""	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.1413C>T	12.37:g.111747999C>T			A7E2Y4	Silent	SNP	pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_Prefoldin,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT	p.D471	ENST00000261726.6	37	c.1413	CCDS41837.1	12																																																																																			CUX2	-	NULL	ENSG00000111249		0.706	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUX2	HGNC	protein_coding	OTTHUMT00000404765.1	-	0.00	30	0	C	NM_015267		111747999	+1	tier1	-	no_errors	ENST00000261726	ensembl	human	known	74_37	silent	24.71	64	21	SNP	0.002	T
CWF19L2	143884	genome.wustl.edu	37	11	107299551	107299551	+	Silent	SNP	T	T	C			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr11:107299551T>C	ENST00000282251.5	-	8	1434	c.1407A>G	c.(1405-1407)ctA>ctG	p.L469L	CWF19L2_ENST00000433523.1_Silent_p.L469L	NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)	469							catalytic activity (GO:0003824)			endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		TTGTATCCCGTAGATGTTCTT	0.358																																																	0													171.0	176.0	175.0					11																	107299551		2201	4298	6499	SO:0001819	synonymous_variant	0			AK056905	CCDS8336.2	11q23.1	2005-09-22			ENSG00000152404	ENSG00000152404			26508	protein-coding gene	gene with protein product						14702039	Standard	NM_152434		Approved	FLJ32343	uc010rvp.2	Q2TBE0	OTTHUMG00000152975	ENST00000282251.5:c.1407A>G	11.37:g.107299551T>C			A4FU66|A4FU67|A4FU68|Q6PHW1|Q96MI1	Silent	SNP	pfam_Cwf19-like_C_dom-1,pfam_Cwf19-like_C_dom-2,superfamily_HIT-like	p.L469	ENST00000282251.5	37	c.1407	CCDS8336.2	11																																																																																			CWF19L2	-	NULL	ENSG00000152404		0.358	CWF19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CWF19L2	HGNC	protein_coding	OTTHUMT00000328825.2	-	0.00	14	0	T	NM_152434		107299551	-1	tier1	-	no_errors	ENST00000282251	ensembl	human	known	74_37	silent	18.49	97	22	SNP	0.000	C
DCAF4	26094	genome.wustl.edu	37	14	73406569	73406569	+	Missense_Mutation	SNP	C	C	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr14:73406569C>T	ENST00000358377.2	+	3	372	c.152C>T	c.(151-153)cCg>cTg	p.P51L	DCAF4_ENST00000510612.1_3'UTR|DCAF4_ENST00000509153.1_Missense_Mutation_p.P51L|DCAF4_ENST00000553457.1_5'UTR|DCAF4_ENST00000394234.2_5'UTR|DCAF4_ENST00000353777.3_Missense_Mutation_p.P51L|DCAF4_ENST00000555042.1_Missense_Mutation_p.P51L	NM_001163509.1|NM_015604.3	NP_001156981.1|NP_056419.2	Q8WV16	DCAF4_HUMAN	DDB1 and CUL4 associated factor 4	51					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|skin(1)	22						GACGAGTCTCCGTCAACCTCG	0.622																																																	0													39.0	32.0	34.0					14																	73406569		2203	4300	6503	SO:0001583	missense	0			BC018979	CCDS9809.1, CCDS9810.1, CCDS41968.1, CCDS41968.2, CCDS55926.1	14q24.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000119599		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	20229	protein-coding gene	gene with protein product			"""WD repeat domain 21"", ""WD repeat domain 21A"""	WDR21, WDR21A			Standard	NM_015604		Approved	DKFZp434K114	uc010ttr.2	Q8WV16		ENST00000358377.2:c.152C>T	14.37:g.73406569C>T	ENSP00000351147:p.Pro51Leu		B4DUT6|G3V522|Q86U31|Q8IV10|Q96K22|Q9Y4P5	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.P51L	ENST00000358377.2	37	c.152	CCDS9809.1	14	.	.	.	.	.	.	.	.	.	.	C	18.03	3.531741	0.64972	.	.	ENSG00000119599	ENST00000358377;ENST00000353777;ENST00000509153;ENST00000555042	T;T;T;T	0.70164	0.49;-0.46;0.35;0.1	5.01	4.12	0.48240	.	0.378699	0.30244	N	0.010066	T	0.69024	0.3065	L	0.33485	1.01	0.27548	N	0.950571	D;D;D;P;D	0.76494	0.999;0.999;0.999;0.886;0.999	P;D;D;B;P	0.68353	0.832;0.919;0.957;0.267;0.908	T	0.60707	-0.7210	10	0.72032	D	0.01	.	8.6337	0.33935	0.0:0.8994:0.0:0.1006	.	51;51;51;51;51	B4DUT6;Q8WV16-2;G3V522;Q86SY2;Q8WV16	.;.;.;.;DCAF4_HUMAN	L	51	ENSP00000351147:P51L;ENSP00000345176:P51L;ENSP00000426178:P51L;ENSP00000452131:P51L	ENSP00000345176:P51L	P	+	2	0	DCAF4	72476322	0.037000	0.19845	0.155000	0.22561	0.031000	0.12232	1.889000	0.39718	2.765000	0.95021	0.655000	0.94253	CCG	DCAF4	-	NULL	ENSG00000119599		0.622	DCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DCAF4	HGNC	protein_coding	OTTHUMT00000361058.1		0.00	13	0	C	NM_015604		73406569	+1			no_errors	ENST00000358377	ensembl	human	known	74_37	missense	19.05	17	4	SNP	0.037	T
DCC	1630	genome.wustl.edu	37	18	51025797	51025797	+	Missense_Mutation	SNP	G	G	A	rs149118168		TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr18:51025797G>A	ENST00000442544.2	+	27	4644	c.4028G>A	c.(4027-4029)cGc>cAc	p.R1343H	RP11-671P2.1_ENST00000582064.1_RNA|DCC_ENST00000581580.1_Missense_Mutation_p.R976H	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	1343					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CACCCACTCCGCAGCTTTGCT	0.527																																																	0								G	HIS/ARG	0,4406		0,0,2203	213.0	167.0	182.0		4028	6.2	1.0	18	dbSNP_134	182	4,8596	3.7+/-12.6	0,4,4296	no	missense	DCC	NM_005215.3	29	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	possibly-damaging	1343/1448	51025797	4,13002	2203	4300	6503	SO:0001583	missense	0			X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.4028G>A	18.37:g.51025797G>A	ENSP00000389140:p.Arg1343His			Missense_Mutation	SNP	pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.R1343H	ENST00000442544.2	37	c.4028	CCDS11952.1	18	.	.	.	.	.	.	.	.	.	.	G	15.86	2.958487	0.53400	0.0	4.65E-4	ENSG00000187323	ENST00000442544	T	0.50813	0.73	6.17	6.17	0.99709	Neogenin, C-terminal (1);	0.071279	0.56097	D	0.000030	T	0.65112	0.2660	L	0.51422	1.61	0.58432	D	0.999999	D	0.76494	0.999	D	0.66716	0.946	T	0.63875	-0.6538	10	0.87932	D	0	-6.3649	19.6509	0.95805	0.0:0.0:1.0:0.0	.	1343	P43146	DCC_HUMAN	H	1343	ENSP00000389140:R1343H	ENSP00000389140:R1343H	R	+	2	0	DCC	49279795	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.871000	0.87180	2.941000	0.99782	0.655000	0.94253	CGC	DCC	-	pfam_Neogenin_C	ENSG00000187323		0.527	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCC	HGNC	protein_coding	OTTHUMT00000255996.3		0.00	21	0	G	NM_005215		51025797	+1			no_errors	ENST00000442544	ensembl	human	known	74_37	missense	9.09	50	5	SNP	1.000	A
DFFB	1677	genome.wustl.edu	37	1	3775330	3775330	+	Silent	SNP	C	C	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr1:3775330C>T	ENST00000378209.3	+	2	486	c.163C>T	c.(163-165)Ctg>Ttg	p.L55L	DFFB_ENST00000338895.3_Silent_p.L55L|CEP104_ENST00000378223.3_5'Flank|DFFB_ENST00000341385.3_Silent_p.L55L|DFFB_ENST00000378212.2_Silent_p.L55L|CEP104_ENST00000378230.3_5'Flank	NM_004402.2	NP_004393.1	O76075	DFFB_HUMAN	DNA fragmentation factor, 40kDa, beta polypeptide (caspase-activated DNase)	55	CIDE-N. {ECO:0000255|PROSITE- ProRule:PRU00447}.				apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_cancers(23;2.05e-30)|all_epithelial(116;6.22e-21)|all_lung(118;2.65e-08)|Lung NSC(185;6.25e-06)|Breast(487;0.000659)|Renal(390;0.00121)|all_neural(13;0.0019)|Hepatocellular(190;0.00705)|Colorectal(325;0.0113)|all_hematologic(16;0.0194)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0548)|Medulloblastoma(700;0.211)		Epithelial(90;1.18e-39)|OV - Ovarian serous cystadenocarcinoma(86;7.28e-23)|GBM - Glioblastoma multiforme(42;2.95e-17)|Colorectal(212;1.23e-05)|COAD - Colon adenocarcinoma(227;5.94e-05)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00038)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		TGGCACGGAGCTGACGGAAGA	0.632																																																	0													71.0	66.0	68.0					1																	3775330		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS52.1, CCDS72693.1	1p36.3	2014-03-06	2002-08-29		ENSG00000169598	ENSG00000169598			2773	protein-coding gene	gene with protein product		601883				9108473, 9560346	Standard	NM_004402		Approved	CAD, CPAN, DFF-40, DFF40	uc001alc.3	O76075	OTTHUMG00000003525	ENST00000378209.3:c.163C>T	1.37:g.3775330C>T			O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Silent	SNP	pfam_Apoptosis_DFF40,pfam_CIDE-N_dom,smart_CIDE-N_dom,pfscan_CIDE-N_dom	p.L55	ENST00000378209.3	37	c.163	CCDS52.1	1																																																																																			DFFB	-	pfam_CIDE-N_dom,smart_CIDE-N_dom,pfscan_CIDE-N_dom	ENSG00000169598		0.632	DFFB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DFFB	HGNC	protein_coding	OTTHUMT00000009821.2	-	0.00	20	0	C	NM_001282669		3775330	+1	tier1	-	no_errors	ENST00000378209	ensembl	human	known	74_37	silent	28.07	41	16	SNP	0.473	T
DENND2C	163259	genome.wustl.edu	37	1	115167965	115167965	+	Missense_Mutation	SNP	C	C	T	rs372971179		TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr1:115167965C>T	ENST00000393274.1	-	4	1266	c.641G>A	c.(640-642)cGt>cAt	p.R214H	DENND2C_ENST00000481894.1_5'Flank|DENND2C_ENST00000393276.3_Missense_Mutation_p.R214H|DENND2C_ENST00000393277.1_Missense_Mutation_p.R214H	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	214					positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.R214H(1)		NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAATGTCCTACGAGGTTTTGG	0.378																																																	1	Substitution - Missense(1)	cervix(1)						C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	97.0	97.0	97.0		641	5.0	1.0	1		97	0,8600		0,0,4300	no	missense	DENND2C	NM_198459.3	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	214/872	115167965	1,13005	2203	4300	6503	SO:0001583	missense	0				CCDS875.1, CCDS58018.1	1p13.2-p13.1	2012-10-03			ENSG00000175984	ENSG00000175984		"""DENN/MADD domain containing"""	24748	protein-coding gene	gene with protein product							Standard	NM_198459		Approved	FLJ37099, DKFZp686G0351, DKFZp779P1149, dJ1156J9.1, RP5-1156J9.1	uc001efd.1	Q68D51	OTTHUMG00000011893	ENST00000393274.1:c.641G>A	1.37:g.115167965C>T	ENSP00000376955:p.Arg214His		B1AL26|Q5TCX6|Q6P3R3	Missense_Mutation	SNP	pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.R214H	ENST00000393274.1	37	c.641	CCDS58018.1	1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.419043	0.83559	2.27E-4	0.0	ENSG00000175984	ENST00000393276;ENST00000393274;ENST00000369540;ENST00000393277	T;T;T	0.12361	3.15;3.36;2.69	5.0	5.0	0.66597	.	0.069099	0.64402	D	0.000014	T	0.30479	0.0766	M	0.72118	2.19	0.53005	D	0.999965	D;D	0.89917	1.0;1.0	D;D	0.78314	0.971;0.991	T	0.09207	-1.0685	10	0.87932	D	0	.	18.2774	0.90087	0.0:1.0:0.0:0.0	.	214;214	Q68D51;Q68D51-3	DEN2C_HUMAN;.	H	214	ENSP00000376957:R214H;ENSP00000376955:R214H;ENSP00000376958:R214H	ENSP00000358553:R214H	R	-	2	0	DENND2C	114969488	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.741000	0.55090	2.333000	0.79357	0.585000	0.79938	CGT	DENND2C	-	NULL	ENSG00000175984		0.378	DENND2C-005	KNOWN	basic|CCDS	protein_coding	DENND2C	HGNC	protein_coding	OTTHUMT00000314822.1	-	0.00	10	0	C	NM_198459		115167965	-1	tier1	-	no_errors	ENST00000393274	ensembl	human	known	74_37	missense	14.94	74	13	SNP	1.000	T
DIS3	22894	genome.wustl.edu	37	13	73336070	73336070	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr13:73336070G>T	ENST00000377767.4	-	17	2433	c.2333C>A	c.(2332-2334)cCc>cAc	p.P778H	DIS3_ENST00000545453.1_Missense_Mutation_p.P616H|DIS3_ENST00000377780.4_Missense_Mutation_p.P748H	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN	DIS3 exosome endoribonuclease and 3'-5' exoribonuclease	778					CUT catabolic process (GO:0071034)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of GTPase activity (GO:0043547)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA catabolic process (GO:0016075)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|endonuclease activity (GO:0004519)|guanyl-nucleotide exchange factor activity (GO:0005085)|RNA binding (GO:0003723)	p.P778H(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		CCTTCTAATGGGTGAAGTAAA	0.328										Multiple Myeloma(4;0.011)																																							1	Substitution - Missense(1)	endometrium(1)											67.0	66.0	66.0					13																	73336070		2203	4299	6502	SO:0001583	missense	0			AB023225	CCDS9447.1, CCDS45057.1	13q21.32	2014-03-05	2014-03-05	2007-01-12	ENSG00000083520	ENSG00000083520			20604	protein-coding gene	gene with protein product	"""exosome component 11"""	607533	"""KIAA1008"", ""DIS3 mitotic control homolog (S. cerevisiae)"""	KIAA1008		11935316, 9562621	Standard	XM_005266294		Approved	dis3p, RRP44, EXOSC11	uc001vix.4	Q9Y2L1	OTTHUMG00000017070	ENST00000377767.4:c.2333C>A	13.37:g.73336070G>T	ENSP00000366997:p.Pro778His		A6NI21|B2RBL2|Q5W0P7|Q5W0P8|Q658Z7|Q7Z481|Q8WWI2|Q9UG36	Missense_Mutation	SNP	smart_PIN_dom	p.P778H	ENST00000377767.4	37	c.2333	CCDS9447.1	13	.	.	.	.	.	.	.	.	.	.	G	24.0	4.478849	0.84747	.	.	ENSG00000083520	ENST00000377767;ENST00000377780;ENST00000545453	T;T;T	0.81163	-1.46;-1.46;-1.46	5.69	5.69	0.88448	Ribonuclease II/R, conserved site (1);Ribonuclease II/R (2);	0.000000	0.85682	D	0.000000	D	0.95351	0.8491	H	0.99777	4.77	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.97498	1.0058	10	0.87932	D	0	.	19.809	0.96540	0.0:0.0:1.0:0.0	.	748;778	Q9Y2L1-2;Q9Y2L1	.;RRP44_HUMAN	H	778;748;616	ENSP00000366997:P778H;ENSP00000367011:P748H;ENSP00000440058:P616H	ENSP00000366997:P778H	P	-	2	0	DIS3	72234071	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.760000	0.98935	2.676000	0.91093	0.561000	0.74099	CCC	DIS3	-	NULL	ENSG00000083520		0.328	DIS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DIS3	HGNC	protein_coding	OTTHUMT00000045250.2		0.00	15	0	G	NM_014953		73336070	-1			no_errors	ENST00000377767	ensembl	human	known	74_37	missense	5.13	37	2	SNP	1.000	T
DLGAP2	9228	genome.wustl.edu	37	8	1616580	1616580	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr8:1616580G>T	ENST00000421627.2	+	6	1790	c.1656G>T	c.(1654-1656)caG>caT	p.Q552H		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	631					neuron-neuron synaptic transmission (GO:0007270)	cell junction (GO:0030054)|neurofilament (GO:0005883)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		TGACGGCGCAGAGCAGCACCG	0.602																																																	0													13.0	18.0	16.0					8																	1616580		2021	4170	6191	SO:0001583	missense	0			AB000275	CCDS47760.1, CCDS75689.1	8p23	2007-12-06	2001-11-28		ENSG00000198010	ENSG00000198010			2906	protein-coding gene	gene with protein product		605438	"""discs, large (Drosophila) homolog-associated protein 2"""			9286858, 10854099	Standard	NM_004745		Approved	DAP-2	uc003wpl.4	Q9P1A6	OTTHUMG00000163599	ENST00000421627.2:c.1656G>T	8.37:g.1616580G>T	ENSP00000400258:p.Gln552His		A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Missense_Mutation	SNP	pfam_GKAP	p.Q552H	ENST00000421627.2	37	c.1656	CCDS47760.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.8|22.8	4.332219|4.332219	0.81801|0.81801	.|.	.|.	ENSG00000198010|ENSG00000198010	ENST00000356067;ENST00000421627|ENST00000520901	T|.	0.22336|.	1.96|.	5.53|5.53	5.53|5.53	0.82687|0.82687	.|.	0.049948|.	0.85682|.	D|.	0.000000|.	T|T	0.77350|0.77350	0.4117|0.4117	M|M	0.84585|0.84585	2.705|2.705	0.42809|0.42809	D|D	0.993959|0.993959	D;D|.	0.76494|.	0.999;0.999|.	D;D|.	0.91635|.	0.999;0.997|.	T|T	0.79897|0.79897	-0.1609|-0.1609	10|5	0.87932|.	D|.	0|.	-12.6975|-12.6975	12.7617|12.7617	0.57367|0.57367	0.0751:0.0:0.9249:0.0|0.0751:0.0:0.9249:0.0	.|.	631;631|.	Q9P1A6-2;Q9P1A6|.	.;DLGP2_HUMAN|.	H|I	597;552|569	ENSP00000400258:Q552H|.	ENSP00000348366:Q597H|.	Q|R	+|+	3|2	2|0	DLGAP2|DLGAP2	1603987|1603987	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.338000|4.338000	0.59316|0.59316	2.594000|2.594000	0.87642|0.87642	0.655000|0.655000	0.94253|0.94253	CAG|AGA	DLGAP2	-	NULL	ENSG00000198010		0.602	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLGAP2	HGNC	protein_coding	OTTHUMT00000374478.1	-	0.00	20	0	G	NM_004745		1616580	+1	tier1	-	no_errors	ENST00000421627	ensembl	human	known	74_37	missense	26.53	72	26	SNP	1.000	T
DMD	1756	genome.wustl.edu	37	X	32328389	32328389	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chrX:32328389G>T	ENST00000357033.4	-	42	6133	c.5927C>A	c.(5926-5928)aCt>aAt	p.T1976N	DMD_ENST00000378677.2_Missense_Mutation_p.T1972N	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1976					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TTCACGGACAGTGTGCTGGTA	0.363																																																	0													82.0	69.0	73.0					X																	32328389		2202	4300	6502	SO:0001583	missense	0			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.5927C>A	X.37:g.32328389G>T	ENSP00000354923:p.Thr1976Asn		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ	p.T1976N	ENST00000357033.4	37	c.5927	CCDS14233.1	X	.	.	.	.	.	.	.	.	.	.	G	12.90	2.077557	0.36662	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.49139	0.79;0.79	6.16	6.16	0.99307	.	0.000000	0.38058	U	0.001837	T	0.54240	0.1846	N	0.19112	0.55	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999	D;D;D;D;D	0.85130	0.994;0.997;0.997;0.997;0.997	T	0.48043	-0.9069	10	0.19590	T	0.45	.	17.89	0.88869	0.0:0.0:1.0:0.0	.	1968;1976;1972;635;632	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6	.;DMD_HUMAN;.;.;.	N	1968;635;632;1972;1976;1976;1853	ENSP00000367948:T1972N;ENSP00000354923:T1976N	ENSP00000354923:T1976N	T	-	2	0	DMD	32238310	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.088000	0.76901	2.614000	0.88457	0.594000	0.82650	ACT	DMD	-	pfam_Spectrin_repeat,pirsf_Dystrophin/utrophin	ENSG00000198947		0.363	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMD	HGNC	protein_coding	OTTHUMT00000056182.2		0.00	9	0	G	NM_004006		32328389	-1			no_errors	ENST00000357033	ensembl	human	known	74_37	missense	8.57	32	3	SNP	1.000	T
DMRTC2	63946	genome.wustl.edu	37	19	42353321	42353321	+	Missense_Mutation	SNP	G	G	A			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr19:42353321G>A	ENST00000269945.3	+	6	803	c.752G>A	c.(751-753)cGc>cAc	p.R251H	DMRTC2_ENST00000596827.1_Missense_Mutation_p.R251H	NM_001040283.1	NP_001035373.1	Q8IXT2	DMRTD_HUMAN	DMRT-like family C2	251	Pro-rich.				male meiosis I (GO:0007141)|positive regulation of histone H3-K9 dimethylation (GO:1900111)|positive regulation of histone H3-K9 trimethylation (GO:1900114)|sex differentiation (GO:0007548)|spermatid nucleus elongation (GO:0007290)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|XY body (GO:0001741)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	10						AGCCAGCCCCGCACGTGAGTA	0.567																																																	0													75.0	87.0	83.0					19																	42353321		2203	4300	6503	SO:0001583	missense	0			AJ291669	CCDS33034.1	19q13.2	2008-07-16				ENSG00000142025			13911	protein-coding gene	gene with protein product		614806				11863363	Standard	NM_001040283		Approved		uc002ors.3	Q8IXT2		ENST00000269945.3:c.752G>A	19.37:g.42353321G>A	ENSP00000269945:p.Arg251His		Q8N6Q2|Q96M39|Q96SD4	Missense_Mutation	SNP	pfam_DM_DNA-bd,superfamily_DM_DNA-bd,smart_DM_DNA-bd,pfscan_DM_DNA-bd	p.R251H	ENST00000269945.3	37	c.752	CCDS33034.1	19	.	.	.	.	.	.	.	.	.	.	G	9.862	1.196507	0.22037	.	.	ENSG00000142025	ENST00000269945	T	0.33438	1.41	5.32	-9.78	0.00496	.	0.790399	0.11073	N	0.602726	T	0.09818	0.0241	N	0.04043	-0.29	0.23036	N	0.998396	B;B	0.12630	0.006;0.0	B;B	0.04013	0.001;0.0	T	0.35699	-0.9778	10	0.18710	T	0.47	-0.6289	10.6287	0.45523	0.7381:0.0:0.1519:0.11	.	251;251	B4DX56;Q8IXT2	.;DMRTD_HUMAN	H	251	ENSP00000269945:R251H	ENSP00000269945:R251H	R	+	2	0	DMRTC2	47045161	0.733000	0.28132	0.789000	0.31954	0.561000	0.35649	-0.452000	0.06787	-1.408000	0.02040	-1.157000	0.01802	CGC	DMRTC2	-	NULL	ENSG00000142025		0.567	DMRTC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMRTC2	HGNC	protein_coding	OTTHUMT00000463045.1	-	0.00	24	0	G	NM_001040283		42353321	+1	tier1	-	no_errors	ENST00000269945	ensembl	human	known	74_37	missense	60.00	14	21	SNP	0.627	A
DMXL2	23312	genome.wustl.edu	37	15	51742484	51742484	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr15:51742484G>T	ENST00000251076.5	-	42	9030	c.8743C>A	c.(8743-8745)Cta>Ata	p.L2915I	DMXL2_ENST00000543779.2_Missense_Mutation_p.L2916I|DMXL2_ENST00000449909.3_Missense_Mutation_p.L2279I|RP11-707P17.1_ENST00000561007.1_RNA	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2915						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		CCCGAGATTAGGAGTTGCTGT	0.473																																																	0													147.0	132.0	137.0					15																	51742484		2196	4293	6489	SO:0001583	missense	0			AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.8743C>A	15.37:g.51742484G>T	ENSP00000251076:p.Leu2915Ile		B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L2916I	ENST00000251076.5	37	c.8746	CCDS10141.1	15	.	.	.	.	.	.	.	.	.	.	G	8.930	0.963327	0.18583	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909;ENST00000436119	T;T;T	0.63096	-0.02;-0.02;-0.02	5.48	4.55	0.56014	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.080681	0.51477	D	0.000092	T	0.65739	0.2720	L	0.48362	1.52	0.52099	D	0.999942	P;P;P;P	0.52061	0.884;0.775;0.95;0.88	B;P;P;P	0.56700	0.41;0.526;0.751;0.804	T	0.63184	-0.6694	10	0.37606	T	0.19	.	10.9035	0.47067	0.1444:0.0:0.8555:0.0	.	2916;2279;2915;2916	F5GWF1;B2RTR3;Q8TDJ6;B7ZMH3	.;.;DMXL2_HUMAN;.	I	2915;2916;2279;481	ENSP00000251076:L2915I;ENSP00000441858:L2916I;ENSP00000400855:L2279I	ENSP00000251076:L2915I	L	-	1	2	DMXL2	49529776	0.991000	0.36638	0.263000	0.24496	0.532000	0.34746	1.881000	0.39638	2.554000	0.86153	0.655000	0.94253	CTA	DMXL2	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000104093		0.473	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	DMXL2	HGNC	protein_coding	OTTHUMT00000254671.2		0.00	11	0	G	NM_015263		51742484	-1			no_errors	ENST00000543779	ensembl	human	known	74_37	missense	8.00	46	4	SNP	0.996	T
DNAH5	1767	genome.wustl.edu	37	5	13752328	13752328	+	Missense_Mutation	SNP	A	A	G			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr5:13752328A>G	ENST00000265104.4	-	64	11047	c.10943T>C	c.(10942-10944)cTt>cCt	p.L3648P		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3648	AAA 5. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ATCTTCAATAAGCAAAGGCCT	0.398									Kartagener syndrome																																								0													150.0	135.0	140.0					5																	13752328		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.10943T>C	5.37:g.13752328A>G	ENSP00000265104:p.Leu3648Pro		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.L3648P	ENST00000265104.4	37	c.10943	CCDS3882.1	5	.	.	.	.	.	.	.	.	.	.	A	24.0	4.483107	0.84747	.	.	ENSG00000039139	ENST00000265104	T	0.35789	1.29	5.72	5.72	0.89469	.	0.134329	0.49305	D	0.000154	T	0.78553	0.4301	H	0.99758	4.755	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.88603	0.3151	10	0.87932	D	0	.	16.2988	0.82793	1.0:0.0:0.0:0.0	.	3648	Q8TE73	DYH5_HUMAN	P	3648	ENSP00000265104:L3648P	ENSP00000265104:L3648P	L	-	2	0	DNAH5	13805328	1.000000	0.71417	0.996000	0.52242	0.940000	0.58332	8.740000	0.91579	2.311000	0.77944	0.533000	0.62120	CTT	DNAH5	-	NULL	ENSG00000039139		0.398	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	HGNC	protein_coding	OTTHUMT00000207057.2	-	0.00	17	0	A	NM_001369		13752328	-1	tier1	-	no_errors	ENST00000265104	ensembl	human	known	74_37	missense	69.79	29	67	SNP	1.000	G
DNASE1L3	1776	genome.wustl.edu	37	3	58194005	58194005	+	Missense_Mutation	SNP	A	A	G			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr3:58194005A>G	ENST00000394549.2	-	2	486	c.170T>C	c.(169-171)gTg>gCg	p.V57A	DNASE1L3_ENST00000483681.1_Missense_Mutation_p.V57A|DNASE1L3_ENST00000318316.3_Missense_Mutation_p.V57A|DNASE1L3_ENST00000486455.1_Missense_Mutation_p.V57A	NM_004944.3	NP_004935.1	Q13609	DNSL3_HUMAN	deoxyribonuclease I-like 3	57					apoptotic DNA fragmentation (GO:0006309)|developmental programmed cell death (GO:0010623)|DNA metabolic process (GO:0006259)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)|deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)			breast(2)|large_intestine(4)|lung(6)	12				BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202)		GATTTCCATCACGAGTATGAT	0.463																																					Esophageal Squamous(96;1069 1424 4841 43466 52325)												0													231.0	191.0	204.0					3																	58194005		2203	4300	6503	SO:0001583	missense	0			AF047354	CCDS2886.1, CCDS58836.1	3p14.3	2008-05-15			ENSG00000163687	ENSG00000163687			2959	protein-coding gene	gene with protein product	"""DNase gamma"""	602244				9205125, 9714828, 14646506	Standard	NM_004944		Approved	DNAS1L3, LSD	uc003djo.2	Q13609	OTTHUMG00000159153	ENST00000394549.2:c.170T>C	3.37:g.58194005A>G	ENSP00000378053:p.Val57Ala		B2R8B1|B7Z707|O75803	Missense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_DNase_I,pirsf_DNase_I,prints_DNase_I	p.V57A	ENST00000394549.2	37	c.170	CCDS2886.1	3	.	.	.	.	.	.	.	.	.	.	A	13.75	2.330525	0.41297	.	.	ENSG00000163687	ENST00000486455;ENST00000450710;ENST00000318316;ENST00000483681;ENST00000394549;ENST00000461914;ENST00000460422	T;T;T;T;T;T	0.34667	1.35;1.35;1.35;1.35;1.35;1.35	5.59	5.59	0.84812	Endonuclease/exonuclease/phosphatase (2);	0.113525	0.38837	N	0.001542	T	0.43344	0.1243	M	0.62723	1.935	0.23010	N	0.998433	B;P;B	0.35124	0.425;0.485;0.336	B;B;B	0.40741	0.131;0.339;0.173	T	0.47911	-0.9080	10	0.72032	D	0.01	.	14.0043	0.64453	1.0:0.0:0.0:0.0	.	57;57;57	B7Z707;E9PES0;Q13609	.;.;DNSL3_HUMAN	A	57	ENSP00000419052:V57A;ENSP00000316193:V57A;ENSP00000417047:V57A;ENSP00000378053:V57A;ENSP00000418113:V57A;ENSP00000418509:V57A	ENSP00000316193:V57A	V	-	2	0	DNASE1L3	58169045	1.000000	0.71417	0.928000	0.36995	0.185000	0.23345	7.083000	0.76859	2.120000	0.65058	0.459000	0.35465	GTG	DNASE1L3	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_DNase_I,pirsf_DNase_I,prints_DNase_I	ENSG00000163687		0.463	DNASE1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNASE1L3	HGNC	protein_coding	OTTHUMT00000353533.1		0.00	16	0	A	NM_004944		58194005	-1			no_errors	ENST00000318316	ensembl	human	known	74_37	missense	5.56	51	3	SNP	0.997	G
DNTTIP1	116092	genome.wustl.edu	37	20	44424030	44424030	+	Missense_Mutation	SNP	A	A	G			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr20:44424030A>G	ENST00000372622.3	+	4	388	c.320A>G	c.(319-321)gAg>gGg	p.E107G		NM_052951.2	NP_443183.1	Q9H147	TDIF1_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 1	107						nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9		Myeloproliferative disorder(115;0.0122)				GTTGGGGAGGAGGTGGACGCA	0.552																																																	0													58.0	39.0	46.0					20																	44424030		2203	4300	6503	SO:0001583	missense	0			AB035676	CCDS13369.1	20q13.12	2003-09-10	2003-09-10	2003-09-12	ENSG00000101457	ENSG00000101457			16160	protein-coding gene	gene with protein product	"""novel protein similar to synaptotagmin 1 (SYT1, P65) (isoform 1)"", ""TdT binding protein"""	611388	"""chromosome 20 open reading frame 167"""	C20orf167		11473582	Standard	NM_052951		Approved	dJ447F3.4, Tdif1	uc002xpk.3	Q9H147	OTTHUMG00000032610	ENST00000372622.3:c.320A>G	20.37:g.44424030A>G	ENSP00000361705:p.Glu107Gly		B2RA18|Q96DE3|Q9BQP2|Q9H148	Missense_Mutation	SNP	NULL	p.E107G	ENST00000372622.3	37	c.320	CCDS13369.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	-|-	15.34|15.34	2.805704|2.805704	0.50315|0.50315	.|.	.|.	ENSG00000101457|ENSG00000101457	ENST00000372622;ENST00000449078;ENST00000415790|ENST00000435014	T;T|.	0.51817|.	0.77;0.69|.	5.47|5.47	4.36|4.36	0.52297|0.52297	.|.	0.511541|.	0.23668|.	N|.	0.045757|.	T|T	0.54598|0.54598	0.1868|0.1868	L|L	0.40543|0.40543	1.245|1.245	0.38545|0.38545	D|D	0.9493|0.9493	B|.	0.02656|.	0.0|.	B|.	0.04013|.	0.001|.	T|T	0.53982|0.53982	-0.8361|-0.8361	10|5	0.22706|.	T|.	0.39|.	-16.3686|-16.3686	10.5403|10.5403	0.45029|0.45029	0.9235:0.0:0.0765:0.0|0.9235:0.0:0.0765:0.0	.|.	107|.	Q9H147|.	TDIF1_HUMAN|.	G|G	107;102;67|34	ENSP00000361705:E107G;ENSP00000392509:E67G|.	ENSP00000361705:E107G|.	E|R	+|+	2|1	0|2	DNTTIP1|DNTTIP1	43857437|43857437	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.953000|0.953000	0.61014|0.61014	4.481000|4.481000	0.60250|0.60250	1.081000|1.081000	0.41110|0.41110	0.524000|0.524000	0.50904|0.50904	GAG|AGG	DNTTIP1	-	NULL	ENSG00000101457		0.552	DNTTIP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DNTTIP1	HGNC	protein_coding	OTTHUMT00000079502.1		0.00	10	0	A	NM_052951		44424030	+1			no_errors	ENST00000372622	ensembl	human	known	74_37	missense	6.12	46	3	SNP	1.000	G
DPPA2	151871	genome.wustl.edu	37	3	109028057	109028057	+	Missense_Mutation	SNP	C	C	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr3:109028057C>T	ENST00000478945.1	-	4	548	c.302G>A	c.(301-303)cGg>cAg	p.R101Q		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	101	SAP. {ECO:0000255|PROSITE- ProRule:PRU00186}.				lung-associated mesenchyme development (GO:0060484)|positive regulation of stem cell proliferation (GO:2000648)|regulation of histone methylation (GO:0031060)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|nucleic acid binding (GO:0003676)	p.R101L(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ACACCAGTCCCGCAAAGTGTC	0.453																																																	1	Substitution - Missense(1)	lung(1)											195.0	200.0	198.0					3																	109028057		2203	4300	6503	SO:0001583	missense	0			AY283672	CCDS2956.1	3q13.13	2010-05-04			ENSG00000163530	ENSG00000163530			19197	protein-coding gene	gene with protein product	"""cancer/testis antigen 100"""	614445				15583978	Standard	NM_138815		Approved	PESCRG1, CT100	uc003dxo.3	Q7Z7J5	OTTHUMG00000159227	ENST00000478945.1:c.302G>A	3.37:g.109028057C>T	ENSP00000417710:p.Arg101Gln		Q8WVF0	Missense_Mutation	SNP	pfscan_SAP_dom	p.R101Q	ENST00000478945.1	37	c.302	CCDS2956.1	3	.	.	.	.	.	.	.	.	.	.	C	14.67	2.606016	0.46527	.	.	ENSG00000163530	ENST00000478945	T	0.60299	0.2	4.48	3.6	0.41247	DNA-binding SAP (2);	0.138820	0.33161	N	0.005214	T	0.68522	0.3010	M	0.64170	1.965	0.26220	N	0.979166	D	0.89917	1.0	D	0.87578	0.998	T	0.58183	-0.7681	10	0.87932	D	0	-12.9163	7.6849	0.28534	0.0:0.8885:0.0:0.1115	.	101	Q7Z7J5	DPPA2_HUMAN	Q	101	ENSP00000417710:R101Q	ENSP00000417710:R101Q	R	-	2	0	DPPA2	110510747	0.128000	0.22383	0.899000	0.35326	0.022000	0.10575	0.531000	0.23052	2.489000	0.83994	0.561000	0.74099	CGG	DPPA2	-	pfscan_SAP_dom	ENSG00000163530		0.453	DPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPPA2	HGNC	protein_coding	OTTHUMT00000353938.1		0.00	18	0	C	NM_138815		109028057	-1			no_errors	ENST00000478945	ensembl	human	known	74_37	missense	5.13	74	4	SNP	0.818	T
DTX2	113878	genome.wustl.edu	37	7	76111982	76111982	+	Silent	SNP	C	C	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr7:76111982C>T	ENST00000324432.5	+	5	936	c.426C>T	c.(424-426)ctC>ctT	p.L142L	DTX2_ENST00000430490.2_Silent_p.L142L|DTX2_ENST00000413936.2_Silent_p.L142L|DTX2_ENST00000307569.8_Silent_p.L142L|DTX2_ENST00000446820.2_Silent_p.L142L|DTX2_ENST00000446600.1_Silent_p.L51L	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex 2, E3 ubiquitin ligase	142	WWE 2. {ECO:0000255|PROSITE- ProRule:PRU00248}.				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						GCAACCAGCTCGTGGACTTGG	0.617																																																	0													49.0	42.0	44.0					7																	76111982		2203	4300	6503	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.426C>T	7.37:g.76111982C>T			Q6XM87|Q6XM88|Q96H69|Q9H890|Q9P200	Silent	SNP	pfam_WWE-dom,smart_WWE-dom_subgr,smart_Znf_RING,pfscan_WWE-dom,pfscan_Znf_RING	p.L142	ENST00000324432.5	37	c.426	CCDS5587.1	7																																																																																			DTX2	-	pfam_WWE-dom,smart_WWE-dom_subgr,pfscan_WWE-dom	ENSG00000091073		0.617	DTX2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DTX2	HGNC	protein_coding	OTTHUMT00000253104.2		0.00	25	0	C			76111982	+1			no_errors	ENST00000324432	ensembl	human	known	74_37	silent	7.61	85	7	SNP	0.027	T
DUSP10	11221	genome.wustl.edu	37	1	221875950	221875950	+	Missense_Mutation	SNP	A	A	G			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr1:221875950A>G	ENST00000366899.3	-	4	1491	c.1253T>C	c.(1252-1254)aTc>aCc	p.I418T	DUSP10_ENST00000544095.1_Missense_Mutation_p.I76T|DUSP10_ENST00000323825.3_Missense_Mutation_p.I76T|DUSP10_ENST00000468085.1_5'UTR	NM_007207.4	NP_009138.1	Q9Y6W6	DUS10_HUMAN	dual specificity phosphatase 10	418	Tyrosine-protein phosphatase.				inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of respiratory burst involved in inflammatory response (GO:0060266)|oligodendrocyte differentiation (GO:0048709)|protein dephosphorylation (GO:0006470)|regulation of adaptive immune response (GO:0002819)|response to lipopolysaccharide (GO:0032496)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	MAP kinase phosphatase activity (GO:0033549)|MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|phosphatase activity (GO:0016791)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(131;0.0103)		AGCGATGACGATGGTGGCGGA	0.493																																																	0													125.0	115.0	118.0					1																	221875950		2203	4300	6503	SO:0001583	missense	0			AB026436	CCDS1528.1	1q41	2011-06-09			ENSG00000143507	ENSG00000143507		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3065	protein-coding gene	gene with protein product		608867				10391943, 10597297	Standard	NM_007207		Approved	MKP-5, MKP5	uc001hmy.2	Q9Y6W6	OTTHUMG00000037269	ENST00000366899.3:c.1253T>C	1.37:g.221875950A>G	ENSP00000355866:p.Ile418Thr		D3DTB4|Q6GSI4|Q9H9Z5	Missense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,superfamily_Blood-coag_inhib_Disintegrin,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP,prints_Atypical_DUSP	p.I418T	ENST00000366899.3	37	c.1253	CCDS1528.1	1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.423182	0.83559	.	.	ENSG00000143507	ENST00000366899;ENST00000418487;ENST00000323825;ENST00000544095	D;D;D	0.87179	-2.22;-2.22;-2.22	5.72	5.72	0.89469	Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.000000	0.85682	D	0.000000	D	0.93628	0.7965	M	0.79805	2.47	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.94345	0.7574	10	0.87932	D	0	.	16.2988	0.82793	1.0:0.0:0.0:0.0	.	418	Q9Y6W6	DUS10_HUMAN	T	418;363;76;76	ENSP00000355866:I418T;ENSP00000322015:I76T;ENSP00000441302:I76T	ENSP00000322015:I76T	I	-	2	0	DUSP10	219942573	1.000000	0.71417	0.996000	0.52242	0.956000	0.61745	9.287000	0.95975	2.311000	0.77944	0.533000	0.62120	ATC	DUSP10	-	pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	ENSG00000143507		0.493	DUSP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUSP10	HGNC	protein_coding	OTTHUMT00000090716.1	-	0.00	14	0	A	NM_007207		221875950	-1	tier1	-	no_errors	ENST00000366899	ensembl	human	known	74_37	missense	16.13	52	10	SNP	1.000	G
EDC4	23644	genome.wustl.edu	37	16	67913139	67913139	+	Splice_Site	SNP	G	G	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr16:67913139G>T	ENST00000358933.5	+	13	1707		c.e13-1		EDC4_ENST00000574770.1_Intron|AC040162.1_ENST00000408599.1_RNA	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4						exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		TGTCCTTTCAGATGGTACCCA	0.572																																																	0													92.0	92.0	92.0					16																	67913139		2198	4300	6498	SO:0001630	splice_region_variant	0			U17474	CCDS10849.1	16q22.1	2008-02-05			ENSG00000038358	ENSG00000038358			17157	protein-coding gene	gene with protein product		606030				9067524	Standard	NM_014329		Approved	RCD-8, Ge-1, HEDLS	uc002eur.3	Q6P2E9	OTTHUMG00000137543	ENST00000358933.5:c.1469-1G>T	16.37:g.67913139G>T			A6NGM1|A8K4T4|Q13025|Q13826|Q6ZR12|Q7Z6H7	Splice_Site	SNP	-	e13-1	ENST00000358933.5	37	c.1469-1	CCDS10849.1	16	.	.	.	.	.	.	.	.	.	.	G	17.11	3.304703	0.60305	.	.	ENSG00000038358	ENST00000358933;ENST00000536072	.	.	.	6.06	6.06	0.98353	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.2159	0.98296	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EDC4	66470640	1.000000	0.71417	1.000000	0.80357	0.595000	0.36748	8.697000	0.91307	2.882000	0.98803	0.655000	0.94253	.	EDC4	-	-	ENSG00000038358		0.572	EDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDC4	HGNC	protein_coding	OTTHUMT00000268874.2		0.00	39	0	G	NM_014329	Intron	67913139	+1			no_errors	ENST00000358933	ensembl	human	known	74_37	splice_site	5.97	63	4	SNP	1.000	T
EFCAB12	90288	genome.wustl.edu	37	3	129120636	129120636	+	Missense_Mutation	SNP	G	G	A			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr3:129120636G>A	ENST00000505956.1	-	9	1681	c.1519C>T	c.(1519-1521)Ccg>Tcg	p.P507S	EFCAB12_ENST00000326085.3_Missense_Mutation_p.P507S|RPL32P3_ENST00000514355.1_RNA	NM_207307.1	NP_997190.1	Q6NXP0	EFC12_HUMAN	EF-hand calcium binding domain 12	507							calcium ion binding (GO:0005509)										AGATGACCCGGCCAGAAGGAA	0.547																																																	0													111.0	119.0	117.0					3																	129120636		2078	4223	6301	SO:0001583	missense	0			AK096099	CCDS54638.1	3q21.3	2013-01-10	2012-07-20	2012-07-20	ENSG00000172771	ENSG00000172771		"""EF-hand domain containing"""	28061	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 25"""	C3orf25			Standard	NM_207307		Approved		uc003emg.3	Q6NXP0	OTTHUMG00000159464	ENST00000505956.1:c.1519C>T	3.37:g.129120636G>A	ENSP00000420854:p.Pro507Ser		Q69YX4	Missense_Mutation	SNP	pfscan_EF_hand_dom	p.P507S	ENST00000505956.1	37	c.1519	CCDS54638.1	3	.	.	.	.	.	.	.	.	.	.	G	24.9	4.584921	0.86748	.	.	ENSG00000172771	ENST00000505956;ENST00000326085	T;T	0.69175	-0.38;-0.38	5.6	5.6	0.85130	.	0.000000	0.52532	D	0.000078	T	0.75664	0.3880	L	0.34521	1.04	0.38155	D	0.938844	D	0.89917	1.0	D	0.97110	1.0	T	0.79497	-0.1779	10	0.87932	D	0	-31.8631	18.3966	0.90501	0.0:0.0:1.0:0.0	.	507	Q6NXP0	CC025_HUMAN	S	507	ENSP00000420854:P507S;ENSP00000324241:P507S	ENSP00000324241:P507S	P	-	1	0	C3orf25	130603326	1.000000	0.71417	0.997000	0.53966	0.975000	0.68041	5.696000	0.68287	2.636000	0.89361	0.655000	0.94253	CCG	EFCAB12	-	NULL	ENSG00000172771		0.547	EFCAB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFCAB12	HGNC	protein_coding	OTTHUMT00000355530.1		0.00	17	0	G	NM_207307		129120636	-1			no_errors	ENST00000326085	ensembl	human	known	74_37	missense	6.67	56	4	SNP	1.000	A
ENAH	55740	genome.wustl.edu	37	1	225707040	225707040	+	Missense_Mutation	SNP	C	C	T	rs566336314|rs71170086		TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr1:225707040C>T	ENST00000366844.3	-	5	1113	c.662G>A	c.(661-663)cGc>cAc	p.R221H	ENAH_ENST00000391874.2_5'UTR|ENAH_ENST00000284563.6_Missense_Mutation_p.R240H|ENAH_ENST00000366843.2_Missense_Mutation_p.R221H	NM_001008493.1|NM_018212.4	NP_001008493.1|NP_060682.2	Q8N8S7	ENAH_HUMAN	enabled homolog (Drosophila)	221					actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|intracellular transport (GO:0046907)|neural tube closure (GO:0001843)|T cell receptor signaling pathway (GO:0050852)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)|synapse (GO:0045202)	WW domain binding (GO:0050699)			NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.19)		CCGATCCAGGcgttcctgccg	0.592																																																	0													102.0	96.0	98.0					1																	225707040		2203	4300	6503	SO:0001583	missense	0			AK001635	CCDS31040.1, CCDS31041.1	1q32.2	2013-08-06			ENSG00000154380	ENSG00000154380			18271	protein-coding gene	gene with protein product	"""mammalian enabled"""	609061				1420303	Standard	XM_005273182		Approved	FLJ10773, NDPP1, MENA	uc001hpc.1	Q8N8S7	OTTHUMG00000037742	ENST00000366844.3:c.662G>A	1.37:g.225707040C>T	ENSP00000355809:p.Arg221His		D0PQI2|Q502W5|Q5T5M7|Q5VTQ9|Q5VTR0|Q9NVF3|Q9UFB8	Missense_Mutation	SNP	pfam_WH1/EVH1,pfam_VASP_tetra,smart_WH1/EVH1,pfscan_WH1/EVH1	p.R221H	ENST00000366844.3	37	c.662	CCDS31041.1	1	.	.	.	.	.	.	.	.	.	.	C	14.55	2.568339	0.45798	.	.	ENSG00000154380	ENST00000366844;ENST00000366843;ENST00000284563;ENST00000538194	T;T;T	0.50277	0.75;0.75;0.75	.	.	.	.	1.790380	0.05822	U	0.615864	T	0.45155	0.1328	L	0.47190	1.495	0.19575	N	0.999966	.	.	.	.	.	.	T	0.48811	-0.9002	6	0.72032	D	0.01	.	.	.	.	.	221;221	Q8N8S7-2;Q8N8S7	.;ENAH_HUMAN	H	221;221;240;220	ENSP00000355809:R221H;ENSP00000355808:R221H;ENSP00000284563:R240H	ENSP00000284563:R240H	R	-	2	0	ENAH	223773663	0.324000	0.24652	0.776000	0.31678	0.708000	0.40852	0.000000	0.12993	0.000000	0.14550	0.000000	0.15137	CGC	ENAH	-	NULL	ENSG00000154380		0.592	ENAH-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	ENAH	HGNC	protein_coding	OTTHUMT00000357426.2	-	0.00	25	0	C	NM_018212		225707040	-1	tier1	-	no_errors	ENST00000366844	ensembl	human	known	74_37	missense	15.94	57	11	SNP	0.897	T
ZNF606	80095	genome.wustl.edu	37	19	58513732	58513732	+	Intron	SNP	C	C	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr19:58513732C>T	ENST00000341164.4	-	1	570				ZNF606_ENST00000547121.1_Intron|ZNF606_ENST00000536132.1_Intron|CTD-2368P22.1_ENST00000550135.1_Missense_Mutation_p.P85L|ZNF606_ENST00000546715.1_Intron|ZNF606_ENST00000547828.1_Intron|ZNF606_ENST00000552579.1_Intron	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		CCGACGCGGCCGCGACGCTGC	0.647																																																	0																																										SO:0001627	intron_variant	0			AB058755	CCDS12968.1	19q13.43	2013-01-08			ENSG00000166704	ENSG00000166704		"""Zinc fingers, C2H2-type"", ""-"""	25879	protein-coding gene	gene with protein product		613905		ZNF328		11347906	Standard	XM_005259276		Approved	FLJ14260, KIAA1852	uc002qqw.3	Q8WXB4	OTTHUMG00000169804	ENST00000341164.4:c.50+415G>A	19.37:g.58513732C>T			A8KAN2|Q8NE04|Q96JH5	Missense_Mutation	SNP	NULL	p.P85L	ENST00000341164.4	37	c.254	CCDS12968.1	19	.	.	.	.	.	.	.	.	.	.	C	8.556	0.876713	0.17395	.	.	ENSG00000176593	ENST00000550135	.	.	.	1.97	-1.58	0.08479	.	.	.	.	.	T	0.17238	0.0414	.	.	.	0.09310	N	0.999996	P	0.40476	0.718	B	0.34180	0.177	T	0.14868	-1.0457	7	0.87932	D	0	.	2.4104	0.04423	0.4446:0.3655:0.0:0.1899	.	85	Q8N9G5	.	L	85	.	ENSP00000449124:P85L	P	+	2	0	CTD-2368P22.1	63205544	0.000000	0.05858	0.000000	0.03702	0.047000	0.14425	-1.109000	0.03309	-0.319000	0.08652	0.462000	0.41574	CCG	CTD-2368P22.1	-	NULL	ENSG00000176593		0.647	ZNF606-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000176593	Clone_based_vega_gene	protein_coding	OTTHUMT00000405961.1	-	0.00	8	0	C	NM_025027		58513732	+1	tier1	-	no_errors	ENST00000550135	ensembl	human	putative	74_37	missense	50.00	14	14	SNP	0.000	T
AP000525.9	0	genome.wustl.edu	37	22	16159158	16159158	+	RNA	SNP	A	A	G	rs915684		TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr22:16159158A>G	ENST00000447898.1	-	0	293				AP000525.10_ENST00000440946.1_RNA																							TCCTGTAGAGACTGCCACTCC	0.552																																																	0																																												0																															22.37:g.16159158A>G				RNA	SNP	-	NULL	ENST00000447898.1	37	NULL		22																																																																																			AP000525.9	-	-	ENSG00000206195		0.552	AP000525.9-002	KNOWN	basic	lincRNA	ENSG00000206195	Clone_based_vega_gene	processed_transcript	OTTHUMT00000276780.1	-	0.00	8	0	A			16159158	-1	tier1	-	no_errors	ENST00000383038	ensembl	human	known	74_37	rna	66.67	4	8	SNP	0.006	G
MACROD1	28992	genome.wustl.edu	37	11	63886079	63886079	+	Intron	SNP	C	C	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr11:63886079C>T	ENST00000255681.6	-	3	584				FLRT1_ENST00000246841.3_3'UTR|RP11-21A7A.3_ENST00000543817.1_RNA	NM_014067.3	NP_054786.2	Q9BQ69	MACD1_HUMAN	MACRO domain containing 1						cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798)			breast(1)|large_intestine(3)|lung(6)|skin(1)	11						TTTTTTTTTTCCCCCCTGAAC	0.468																																																	0																																										SO:0001627	intron_variant	0			AF202922	CCDS8056.1	11q13.1	2007-07-24	2007-06-11		ENSG00000133315	ENSG00000133315			29598	protein-coding gene	gene with protein product		610400				15691879	Standard	NM_014067		Approved	LRP16	uc001nyh.3	Q9BQ69	OTTHUMG00000167843	ENST00000255681.6:c.517+32631G>A	11.37:g.63886079C>T			Q9UH96	RNA	SNP	-	NULL	ENST00000255681.6	37	NULL	CCDS8056.1	11																																																																																			RP11-21A7A.3	-	-	ENSG00000256341		0.468	MACROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000256341	Clone_based_vega_gene	protein_coding	OTTHUMT00000396570.1	-	0.00	60	0	C	NM_014067		63886079	-1	tier1	-	no_errors	ENST00000543817	ensembl	human	known	74_37	rna	5.88	201	13	SNP	0.008	T
PPP1R3E	90673	genome.wustl.edu	37	14	23764732	23764733	+	IGR	INS	-	-	A			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr14:23764732_23764733insA	ENST00000452015.4	-	0	4773				HOMEZ_ENST00000561013.1_Intron|RP11-124D2.7_ENST00000604456.1_RNA|HOMEZ_ENST00000431326.2_5'Flank|PPP1R3E_ENST00000561426.1_5'Flank	NM_001276318.1	NP_001263247.1	Q9H7J1	PPR3E_HUMAN	protein phosphatase 1, regulatory subunit 3E						glycogen metabolic process (GO:0005977)												ACTTCATTCTTAAAAAAAAAAA	0.406																																																	0																																										SO:0001628	intergenic_variant	0			AK024489	CCDS61403.1	14q11.2	2013-01-29	2011-10-04		ENSG00000235194	ENSG00000235194		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14943	protein-coding gene	gene with protein product			"""protein phosphatase 1, regulatory (inhibitor) subunit 3E"""			11948623, 15752363	Standard	NM_001276318		Approved	FLJ00089	uc031qns.1	Q9H7J1	OTTHUMG00000172116		14.37:g.23764743_23764743dupA			D3DS47	RNA	INS	-	NULL	ENST00000452015.4	37	NULL		14																																																																																			RP11-124D2.7	-	-	ENSG00000270433		0.406	PPP1R3E-001	KNOWN	NMD_exception|basic|appris_principal|readthrough_transcript	protein_coding	ENSG00000270433	Clone_based_vega_gene	protein_coding	OTTHUMT00000416883.2		0.00	10	0	-			23764733	+1	tier1		no_errors	ENST00000604456	ensembl	human	known	74_37	rna	16.67	25	5	INS	0.820:0.835	A
CCDC85A	114800	genome.wustl.edu	37	2	56612188	56612188	+	3'UTR	DEL	T	T	-			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr2:56612188delT	ENST00000407595.2	+	0	2862				RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A											breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TAAATATATCTTTTTTTTTCA	0.328																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AB067499	CCDS46290.1	2p16.1	2006-03-29			ENSG00000055813	ENSG00000055813			29400	protein-coding gene	gene with protein product						11572484	Standard	NM_001080433		Approved	KIAA1912	uc002rzn.3	Q96PX6	OTTHUMG00000152033	ENST00000407595.2:c.*698T>-	2.37:g.56612188delT				RNA	DEL	-	NULL	ENST00000407595.2	37	NULL	CCDS46290.1	2																																																																																			RP11-482H16.1	-	-	ENSG00000271894		0.328	CCDC85A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000271894	Clone_based_vega_gene	protein_coding	OTTHUMT00000324993.1		0.00	14	0	T			56612188	+1	tier1		no_errors	ENST00000607540	ensembl	human	known	74_37	rna	18.60	35	8	DEL	0.005	-
EPB41L4A	64097	genome.wustl.edu	37	5	111595633	111595633	+	Missense_Mutation	SNP	C	C	A			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr5:111595633C>A	ENST00000261486.5	-	8	962	c.686G>T	c.(685-687)gGt>gTt	p.G229V	RP11-526F3.1_ENST00000504004.1_RNA	NM_022140.3	NP_071423	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	229	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		CACAACAACACCAACCGGAGT	0.378																																																	0													158.0	152.0	154.0					5																	111595633		1845	4085	5930	SO:0001583	missense	0			AB030240	CCDS43350.1	5q21.3	2008-02-05			ENSG00000129595	ENSG00000129595			13278	protein-coding gene	gene with protein product		612141				10874211	Standard	XM_005272043		Approved	NBL4	uc003kpv.1	Q9HCS5	OTTHUMG00000162902	ENST00000261486.5:c.686G>T	5.37:g.111595633C>A	ENSP00000261486:p.Gly229Val		A4FUI6	Missense_Mutation	SNP	pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like	p.G229V	ENST00000261486.5	37	c.686	CCDS43350.1	5	.	.	.	.	.	.	.	.	.	.	C	23.9	4.468395	0.84533	.	.	ENSG00000129595	ENST00000261486	D	0.98150	-4.75	5.58	5.58	0.84498	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	D	0.99020	0.9665	M	0.91459	3.21	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99581	1.0973	10	0.87932	D	0	.	18.6924	0.91588	0.0:1.0:0.0:0.0	.	229	Q9HCS5	E41LA_HUMAN	V	229	ENSP00000261486:G229V	ENSP00000261486:G229V	G	-	2	0	EPB41L4A	111623532	1.000000	0.71417	0.997000	0.53966	0.938000	0.57974	6.106000	0.71511	2.780000	0.95670	0.655000	0.94253	GGT	EPB41L4A	-	pfam_FERM_PH-like_C,pfscan_FERM_domain,prints_Ez/rad/moesin_like	ENSG00000129595		0.378	EPB41L4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPB41L4A	HGNC	protein_coding	OTTHUMT00000370969.1		0.00	14	0	C			111595633	-1			no_errors	ENST00000261486	ensembl	human	known	74_37	missense	6.67	28	2	SNP	1.000	A
EPHA4	2043	genome.wustl.edu	37	2	222290754	222290754	+	Silent	SNP	G	G	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr2:222290754G>T	ENST00000281821.2	-	17	2996	c.2955C>A	c.(2953-2955)ccC>ccA	p.P985P	EPHA4_ENST00000392071.4_Silent_p.P934P|EPHA4_ENST00000469354.1_5'Flank|EPHA4_ENST00000409938.1_Silent_p.P985P|EPHA4_ENST00000409854.1_3'UTR	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	985					adult walking behavior (GO:0007628)|cell adhesion (GO:0007155)|corticospinal tract morphogenesis (GO:0021957)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|glial cell migration (GO:0008347)|motor neuron axon guidance (GO:0008045)|negative regulation of axon regeneration (GO:0048681)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001108)|protein autophosphorylation (GO:0046777)|regulation of astrocyte differentiation (GO:0048710)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rac GTPase activity (GO:0032314)|regulation of Rap GTPase activity (GO:0032317)	axon (GO:0030424)|axon terminus (GO:0043679)|axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrial outer membrane (GO:0005741)|neuromuscular junction (GO:0031594)|perikaryon (GO:0043204)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|DH domain binding (GO:0097161)|GPI-linked ephrin receptor activity (GO:0005004)|PH domain binding (GO:0042731)|protein kinase activity (GO:0004672)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		TGGCTCAGACGGGAACCATTC	0.433																																																	0													228.0	212.0	217.0					2																	222290754		2203	4300	6503	SO:0001819	synonymous_variant	0			L36645	CCDS2447.1	2q36.3	2013-02-11	2004-10-28		ENSG00000116106	ENSG00000116106	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3388	protein-coding gene	gene with protein product		602188	"""EphA4"""	TYRO1		9267020	Standard	NM_004438		Approved	Hek8	uc002vmq.3	P54764	OTTHUMG00000133142	ENST00000281821.2:c.2955C>A	2.37:g.222290754G>T			A8K2P1|B2R601|B7Z6Q8|Q2M380	Silent	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.P985	ENST00000281821.2	37	c.2955	CCDS2447.1	2																																																																																			EPHA4	-	NULL	ENSG00000116106		0.433	EPHA4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA4	HGNC	protein_coding	OTTHUMT00000256836.3	-	0.00	8	0	G			222290754	-1	tier1	-	no_errors	ENST00000281821	ensembl	human	known	74_37	silent	17.65	28	6	SNP	0.889	T
EPHB2	2048	genome.wustl.edu	37	1	23236980	23236980	+	Missense_Mutation	SNP	C	C	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr1:23236980C>T	ENST00000400191.3	+	14	2626	c.2608C>T	c.(2608-2610)Cgg>Tgg	p.R870W	EPHB2_ENST00000374630.3_Missense_Mutation_p.R870W|EPHB2_ENST00000374627.1_Missense_Mutation_p.R865W|EPHB2_ENST00000374632.3_Missense_Mutation_p.R871W	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	870	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|camera-type eye morphogenesis (GO:0048593)|central nervous system projection neuron axonogenesis (GO:0021952)|commissural neuron axon guidance (GO:0071679)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|ephrin receptor signaling pathway (GO:0048013)|inner ear morphogenesis (GO:0042472)|learning (GO:0007612)|negative regulation of axonogenesis (GO:0050771)|nervous system development (GO:0007399)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse assembly (GO:0051965)|regulation of body fluid levels (GO:0050878)|retinal ganglion cell axon guidance (GO:0031290)|urogenital system development (GO:0001655)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|protein tyrosine kinase activity (GO:0004713)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		CCGCAACCACCGGCCCAAGTT	0.602																																																	0													118.0	86.0	97.0					1																	23236980		2203	4300	6503	SO:0001583	missense	0			AF025304	CCDS229.2, CCDS230.1	1p36.1-p35	2014-09-17	2004-10-28		ENSG00000133216	ENSG00000133216	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3393	protein-coding gene	gene with protein product		600997	"""EphB2"""	DRT, ERK, EPHT3		1648701	Standard	NM_017449		Approved	Hek5, Tyro5	uc001bge.3	P29323	OTTHUMG00000002881	ENST00000400191.3:c.2608C>T	1.37:g.23236980C>T	ENSP00000383053:p.Arg870Trp		O43477|Q5T0U6|Q5T0U7|Q5T0U8	Missense_Mutation	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R870W	ENST00000400191.3	37	c.2608		1	.	.	.	.	.	.	.	.	.	.	C	18.45	3.626024	0.66901	.	.	ENSG00000133216	ENST00000374625;ENST00000374630;ENST00000400191;ENST00000374632;ENST00000374627	D;D;D;D	0.87887	-2.31;-2.31;-2.31;-2.31	4.55	1.43	0.22495	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.96374	0.8817	H	0.99825	4.815	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.95933	0.8940	10	0.87932	D	0	.	12.767	0.57396	0.5541:0.4459:0.0:0.0	.	812;870;888;871	A6NJM0;P29323;Q4LE53;P29323-3	.;EPHB2_HUMAN;.;.	W	812;870;870;871;865	ENSP00000363761:R870W;ENSP00000383053:R870W;ENSP00000363763:R871W;ENSP00000363758:R865W	ENSP00000363755:R812W	R	+	1	2	EPHB2	23109567	0.994000	0.37717	1.000000	0.80357	0.987000	0.75469	0.567000	0.23608	0.208000	0.20626	0.485000	0.47835	CGG	EPHB2	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	ENSG00000133216		0.602	EPHB2-001	KNOWN	basic	protein_coding	EPHB2	HGNC	protein_coding	OTTHUMT00000008060.2		0.00	20	0	C	NM_017449		23236980	+1			no_errors	ENST00000400191	ensembl	human	known	74_37	missense	13.04	40	6	SNP	0.997	T
ESRRB	2103	genome.wustl.edu	37	14	76965244	76965244	+	Intron	SNP	C	C	T	rs575676023	byFrequency	TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr14:76965244C>T	ENST00000509242.1	+	8	1394				RP11-187O7.3_ENST00000554926.1_lincRNA|ESRRB_ENST00000261532.7_Missense_Mutation_p.P491L|ESRRB_ENST00000380887.2_Intron	NM_004452.3	NP_004443.3	O95718	ERR2_HUMAN	estrogen-related receptor beta						gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|trophectodermal cell proliferation (GO:0001834)|trophectodermal cellular morphogenesis (GO:0001831)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding (GO:0043565)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		GTTTTCCTTCCGCAGAGGGCA	0.587													C|||	2	0.000399361	0.0	0.0029	5008	,	,		12238	0.0		0.0	False		,,,				2504	0.0																0													48.0	42.0	44.0					14																	76965244		2203	4299	6502	SO:0001627	intron_variant	0			X51417	CCDS9850.1, CCDS9850.2	14q24.3	2013-01-16				ENSG00000119715		"""Nuclear hormone receptors"""	3473	protein-coding gene	gene with protein product		602167	"""deafness, autosomal recessive 35"""	ESRL2, DFNB35		3267207, 9344655, 18179891	Standard	NM_004452		Approved	ERR2, ERRbeta, NR3B2, ERRb	uc001xsr.3	O95718		ENST00000509242.1:c.1296+449C>T	14.37:g.76965244C>T			A2VDJ2|B6ZGU4|Q5F0P7|Q5F0P8|Q9HCB4	Missense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.P491L	ENST00000509242.1	37	c.1472	CCDS9850.2	14	.	.	.	.	.	.	.	.	.	.	C	7.541	0.660752	0.14645	.	.	ENSG00000119715	ENST00000261532	D	0.93133	-3.17	4.04	1.1	0.20463	.	.	.	.	.	D	0.92093	0.7494	.	.	.	0.09310	N	1	.	.	.	.	.	.	D	0.84967	0.0880	6	0.87932	D	0	.	8.2581	0.31769	0.0:0.59:0.3161:0.094	.	.	.	.	L	491	ENSP00000261532:P491L	ENSP00000261532:P491L	P	+	2	0	ESRRB	76034997	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.012000	0.12699	-0.001000	0.14495	-2.697000	0.00138	CCG	ESRRB	-	NULL	ENSG00000119715		0.587	ESRRB-003	KNOWN	basic|CCDS	protein_coding	ESRRB	HGNC	protein_coding	OTTHUMT00000360663.1		0.00	10	0	C			76965244	+1			no_errors	ENST00000261532	ensembl	human	known	74_37	missense	11.11	32	4	SNP	0.000	T
ETFA	2108	genome.wustl.edu	37	15	76588003	76588003	+	Missense_Mutation	SNP	T	T	G			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr15:76588003T>G	ENST00000557943.1	-	2	195	c.115A>C	c.(115-117)Aat>Cat	p.N39H	ETFA_ENST00000559602.1_Intron|ETFA_ENST00000560726.1_Intron|ETFA_ENST00000433983.2_Intron	NM_000126.3	NP_000117.1	P13804	ETFA_HUMAN	electron-transfer-flavoprotein, alpha polypeptide	39	Domain I. {ECO:0000269|PubMed:8962055}.				cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|oxidoreductase activity (GO:0016491)			endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9						GTAATGGTATTTAAAGTAATG	0.423																																																	0													107.0	97.0	100.0					15																	76588003		2197	4294	6491	SO:0001583	missense	0			J04058	CCDS32299.1, CCDS45311.1	15q23-q25	2012-04-04	2008-08-01		ENSG00000140374	ENSG00000140374			3481	protein-coding gene	gene with protein product	"""glutaric aciduria II"""	608053					Standard	NM_000126		Approved	GA2, EMA, MADD	uc002bbt.2	P13804	OTTHUMG00000172586	ENST00000557943.1:c.115A>C	15.37:g.76588003T>G	ENSP00000452762:p.Asn39His		B4DT43|Q53XN3	Missense_Mutation	SNP	pfam_ETF_asu_C,pfam_ETF_a/b_N,smart_ETF_a/b_N,pirsf_ETF_a	p.N39H	ENST00000557943.1	37	c.115	CCDS32299.1	15	.	.	.	.	.	.	.	.	.	.	T	13.87	2.366861	0.41902	.	.	ENSG00000140374	ENST00000267950	D	0.86694	-2.16	5.26	4.12	0.48240	Electron transfer flavoprotein, alpha/beta-subunit, N-terminal (2);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.144445	0.64402	N	0.000009	T	0.81955	0.4932	L	0.33624	1.015	0.80722	D	1	P;P	0.35124	0.485;0.485	B;B	0.38921	0.285;0.285	T	0.79325	-0.1850	10	0.49607	T	0.09	-22.7856	11.5544	0.50739	0.0:0.0:0.1499:0.8501	.	39;39	Q53XN3;P13804	.;ETFA_HUMAN	H	39	ENSP00000267950:N39H	ENSP00000267950:N39H	N	-	1	0	ETFA	74375058	1.000000	0.71417	0.995000	0.50966	0.733000	0.41908	4.855000	0.62925	0.819000	0.34492	0.383000	0.25322	AAT	ETFA	-	pfam_ETF_a/b_N,smart_ETF_a/b_N,pirsf_ETF_a	ENSG00000140374		0.423	ETFA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ETFA	HGNC	protein_coding	OTTHUMT00000419302.2	-	0.00	17	0	T	NM_000126		76588003	-1	tier1	-	no_errors	ENST00000557943	ensembl	human	known	74_37	missense	26.32	42	15	SNP	1.000	G
EXOC3L1	283849	genome.wustl.edu	37	16	67219282	67219282	+	Silent	SNP	C	C	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr16:67219282C>T	ENST00000314586.6	-	10	1848	c.1608G>A	c.(1606-1608)gcG>gcA	p.A536A	KIAA0895L_ENST00000563902.1_5'Flank|KIAA0895L_ENST00000563831.2_5'Flank|KIAA0895L_ENST00000290881.7_5'Flank|KIAA0895L_ENST00000561621.1_5'Flank|EXOC3L1_ENST00000562887.1_5'Flank	NM_178516.3	NP_848611.2	Q86VI1	EX3L1_HUMAN	exocyst complex component 3-like 1	536					exocytosis (GO:0006887)|peptide hormone secretion (GO:0030072)	exocyst (GO:0000145)|secretory granule (GO:0030141)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	21						CCGCCTGCAGCGCCTCCAACA	0.652											OREG0023874	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													63.0	70.0	68.0					16																	67219282		2198	4300	6498	SO:0001819	synonymous_variant	0			AK092858	CCDS10832.1	16q22.1	2011-01-31	2011-01-31	2011-01-31	ENSG00000179044	ENSG00000179044			27540	protein-coding gene	gene with protein product		614117	"""exocyst complex component 3-like"""	EXOC3L		12477932	Standard	NM_178516		Approved	FLJ35539, FLJ35587	uc002erx.1	Q86VI1	OTTHUMG00000137508	ENST00000314586.6:c.1608G>A	16.37:g.67219282C>T		1097	A8K7I9|Q8NAD2|Q8TEN2	Silent	SNP	pfam_Sec6	p.A536	ENST00000314586.6	37	c.1608	CCDS10832.1	16																																																																																			EXOC3L1	-	pfam_Sec6	ENSG00000179044		0.652	EXOC3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOC3L1	HGNC	protein_coding	OTTHUMT00000268827.2		0.00	8	0	C	NM_178516		67219282	-1			no_errors	ENST00000314586	ensembl	human	known	74_37	silent	6.90	54	4	SNP	0.414	T
FAM118B	79607	genome.wustl.edu	37	11	126110726	126110726	+	Missense_Mutation	SNP	A	A	C			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr11:126110726A>C	ENST00000533050.1	+	4	619	c.126A>C	c.(124-126)gaA>gaC	p.E42D	FAM118B_ENST00000360194.4_Missense_Mutation_p.E42D|FAM118B_ENST00000529731.1_Missense_Mutation_p.E42D|FAM118B_ENST00000525728.1_3'UTR	NM_024556.3	NP_078832.1	Q9BPY3	F118B_HUMAN	family with sequence similarity 118, member B	42										breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)	13	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00948)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0784)		AGCCTCGAGAACTTGTGCTAG	0.448																																																	0													154.0	168.0	163.0					11																	126110726		2201	4299	6500	SO:0001583	missense	0			BC001340	CCDS8470.1	11q24.2	2014-03-13				ENSG00000197798			26110	protein-coding gene	gene with protein product						24569877	Standard	NM_024556		Approved	FLJ21103	uc001qdf.3	Q9BPY3		ENST00000533050.1:c.126A>C	11.37:g.126110726A>C	ENSP00000433343:p.Glu42Asp		Q9H7B0	Missense_Mutation	SNP	NULL	p.E42D	ENST00000533050.1	37	c.126	CCDS8470.1	11	.	.	.	.	.	.	.	.	.	.	A	20.4	3.987441	0.74589	.	.	ENSG00000197798	ENST00000533050;ENST00000528985;ENST00000529731;ENST00000360194;ENST00000530043;ENST00000525338	T;T;T;T;T;T	0.52057	1.37;1.36;0.68;1.36;0.72;0.69	5.95	-3.31	0.04988	.	0.000000	0.85682	D	0.000000	T	0.41858	0.1177	N	0.08118	0	0.51233	D	0.999915	D;D;D	0.61697	0.99;0.984;0.984	D;D;D	0.70935	0.971;0.956;0.956	T	0.29058	-1.0024	10	0.31617	T	0.26	-34.0041	15.0141	0.71570	0.4077:0.0:0.5923:0.0	.	42;42;42	G3V179;E9PMJ2;Q9BPY3	.;.;F118B_HUMAN	D	42	ENSP00000433343:E42D;ENSP00000434952:E42D;ENSP00000432712:E42D;ENSP00000353321:E42D;ENSP00000437285:E42D;ENSP00000435754:E42D	ENSP00000353321:E42D	E	+	3	2	FAM118B	125615936	1.000000	0.71417	0.953000	0.39169	0.907000	0.53573	0.708000	0.25719	-0.618000	0.05656	0.402000	0.26972	GAA	FAM118B	-	NULL	ENSG00000197798		0.448	FAM118B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM118B	HGNC	protein_coding	OTTHUMT00000386346.1	-	0.00	21	0	A	NM_024556		126110726	+1	tier1	-	no_errors	ENST00000533050	ensembl	human	known	74_37	missense	21.43	55	15	SNP	0.989	C
FAM90A26	100287045	genome.wustl.edu	37	4	9174993	9174994	+	Frame_Shift_Ins	INS	-	-	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr4:9174993_9174994insT	ENST00000512047.1	+	4	629_630	c.95_96insT	c.(94-99)gctcccfs	p.P33fs	FAM90A26_ENST00000432515.1_Frame_Shift_Ins_p.P33fs					family with sequence similarity 90, member A26																		GGGCCAAGGGCTCCCCCGCCCG	0.644																																																	0																																										SO:0001589	frameshift_variant	0					4p16.1	2013-03-06	2013-03-06	2013-03-06	ENSG00000229924	ENSG00000229924			43746	other	unknown			"""family with sequence similarity 90, member A26, pseudogene"""	FAM90A26P			Standard	NG_032089		Approved				OTTHUMG00000160151	ENST00000512047.1:c.96dupT	4.37:g.9174994_9174994dupT	ENSP00000421131:p.Pro33fs			Frame_Shift_Ins	INS	superfamily_Znf_CCHC	p.P33fs	ENST00000512047.1	37	c.95_96		4																																																																																			FAM90A26	-	NULL	ENSG00000229924		0.644	FAM90A26-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|exp_conf	protein_coding	FAM90A26	HGNC	protein_coding	OTTHUMT00000359419.1		0.00	48	0	-	NG_032089		9174994	+1	tier1		no_errors	ENST00000432515	ensembl	human	known	74_37	frame_shift_ins	21.36	81	22	INS	0.004:0.013	T
FAM98C	147965	genome.wustl.edu	37	19	38895990	38895990	+	Nonsense_Mutation	SNP	G	G	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr19:38895990G>T	ENST00000252530.5	+	5	581	c.562G>T	c.(562-564)Gag>Tag	p.E188*	FAM98C_ENST00000343358.7_Intron|FAM98C_ENST00000588262.1_Intron	NM_174905.3	NP_777565.3	Q17RN3	FA98C_HUMAN	family with sequence similarity 98, member C	188										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)			TCAGATCTCAGAGCTGCAGCC	0.602																																																	0													58.0	58.0	58.0					19																	38895990		2063	4207	6270	SO:0001587	stop_gained	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.562G>T	19.37:g.38895990G>T	ENSP00000252530:p.Glu188*		A6NMW3|Q66K45	Nonsense_Mutation	SNP	pfam_Uncharacterised_FAM98	p.E188*	ENST00000252530.5	37	c.562	CCDS42562.1	19	.	.	.	.	.	.	.	.	.	.	G	28.2	4.903825	0.92035	.	.	ENSG00000130244	ENST00000252530	.	.	.	5.01	3.93	0.45458	.	0.502924	0.16602	N	0.207302	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	-11.8726	11.5521	0.50726	0.0:0.1795:0.8205:0.0	.	.	.	.	X	188	.	ENSP00000252530:E188X	E	+	1	0	FAM98C	43587830	0.994000	0.37717	0.989000	0.46669	0.881000	0.50899	3.376000	0.52417	2.341000	0.79615	0.558000	0.71614	GAG	FAM98C	-	pfam_Uncharacterised_FAM98	ENSG00000130244		0.602	FAM98C-001	KNOWN	basic|CCDS	protein_coding	FAM98C	HGNC	protein_coding	OTTHUMT00000459222.1		0.00	13	0	G	NM_174905		38895990	+1			no_errors	ENST00000252530	ensembl	human	known	74_37	nonsense	5.71	33	2	SNP	0.962	T
FANCM	57697	genome.wustl.edu	37	14	45668128	45668128	+	Missense_Mutation	SNP	A	A	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr14:45668128A>T	ENST00000267430.5	+	22	6083	c.5998A>T	c.(5998-6000)Atg>Ttg	p.M2000L	FANCM_ENST00000542564.2_Missense_Mutation_p.M1974L	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	2000	Interaction with FAAP24 and EME1.				DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						TGTGAAAAGGATGGCTAACAG	0.279								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																																								0													38.0	42.0	40.0					14																	45668128		2203	4299	6502	SO:0001583	missense	0	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"""Fanconi anemia, complementation groups"""	23168	protein-coding gene	gene with protein product		609644	"""KIAA1596"""	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.5998A>T	14.37:g.45668128A>T	ENSP00000267430:p.Met2000Leu		B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Restrct_endonuc-II-like,superfamily_RuvA_2-like,smart_Helicase_ATP-bd,smart_Helicase_C,smart_ERCC4_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.M2000L	ENST00000267430.5	37	c.5998	CCDS32070.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.40|17.40	3.378869|3.378869	0.61735|0.61735	.|.	.|.	ENSG00000187790|ENSG00000187790	ENST00000554809|ENST00000267430;ENST00000542564;ENST00000556250	.|T;T;T	.|0.06294	.|3.32;3.32;3.32	5.58|5.58	5.58|5.58	0.84498|0.84498	.|RuvA domain 2-like (1);	.|0.049370	.|0.85682	.|D	.|0.000000	T|T	0.17746|0.17746	0.0426|0.0426	L|L	0.53249|0.53249	1.67|1.67	0.32908|0.32908	D|D	0.514139|0.514139	.|D;D	.|0.64830	.|0.994;0.991	.|D;P	.|0.70716	.|0.97;0.82	T|T	0.10497|0.10497	-1.0627|-1.0627	5|10	.|0.39692	.|T	.|0.17	.|.	10.6202|10.6202	0.45476|0.45476	0.9242:0.0:0.0758:0.0|0.9242:0.0:0.0758:0.0	.|.	.|1974;2000	.|B2RTQ9;Q8IYD8	.|.;FANCM_HUMAN	V|L	967|2000;1974;1516	.|ENSP00000267430:M2000L;ENSP00000442493:M1974L;ENSP00000452033:M1516L	.|ENSP00000267430:M2000L	D|M	+|+	2|1	0|0	FANCM|FANCM	44737878|44737878	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	3.623000|3.623000	0.54224|0.54224	2.111000|2.111000	0.64477|0.64477	0.460000|0.460000	0.39030|0.39030	GAT|ATG	FANCM	-	superfamily_RuvA_2-like	ENSG00000187790		0.279	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FANCM	HGNC	protein_coding	OTTHUMT00000410474.1	-	0.00	9	0	A	XM_048128		45668128	+1	tier1	-	no_errors	ENST00000267430	ensembl	human	known	74_37	missense	64.15	19	34	SNP	1.000	T
FASN	2194	genome.wustl.edu	37	17	80041136	80041136	+	Missense_Mutation	SNP	A	A	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr17:80041136A>T	ENST00000306749.2	-	32	5725	c.5507T>A	c.(5506-5508)gTg>gAg	p.V1836E	FASN_ENST00000579758.1_5'UTR	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	1836	Enoyl reductase. {ECO:0000250}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	GGCGTCCTCCACCTGGGCCCC	0.677																																					Colon(59;314 1043 11189 28578 32273)												0													90.0	82.0	85.0					17																	80041136		2202	4299	6501	SO:0001583	missense	0			U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	3594	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 27X, member 1"""	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.5507T>A	17.37:g.80041136A>T	ENSP00000304592:p.Val1836Glu		Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Missense_Mutation	SNP	pfam_Acyl_transferase,pfam_Ketoacyl_synth_N,pfam_Thioesterase,pfam_PKS_KR,pfam_DH_sc/Rdtase_SDR,pfam_Ketoacyl_synth_C,pfam_ADH_C,pfam_Acyl_carrier_prot-like,pfam_Methyltransf_12,pfam_Methyltransf_11,superfamily_Thiolase-like,superfamily_Acyl_Trfase/lysoPLipase,superfamily_GroES-like,superfamily_Acyl_carrier_prot-like,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_Beta-ketoAc_synthase_dom,smart_PKS_acyl_transferase,smart_PKS_dehydratase,smart_PKS_ER,smart_PKS/FAS_KR,smart_PKS_PP-bd,pfscan_Acyl_carrier_prot-like	p.V1836E	ENST00000306749.2	37	c.5507	CCDS11801.1	17	.	.	.	.	.	.	.	.	.	.	A	15.19	2.760550	0.49468	.	.	ENSG00000169710	ENST00000306749;ENST00000545909	T	0.32272	1.46	4.77	2.36	0.29203	Polyketide synthase, enoylreductase (1);	0.197294	0.43110	D	0.000601	T	0.48077	0.1480	H	0.96048	3.76	0.80722	D	1	P	0.45715	0.865	P	0.45377	0.478	T	0.54892	-0.8225	10	0.87932	D	0	-27.1907	6.2472	0.20825	0.7786:0.0:0.0797:0.1417	.	1836	P49327	FAS_HUMAN	E	1836;801	ENSP00000304592:V1836E	ENSP00000304592:V1836E	V	-	2	0	FASN	77634425	1.000000	0.71417	0.991000	0.47740	0.135000	0.20990	4.967000	0.63722	0.656000	0.30886	0.459000	0.35465	GTG	FASN	-	smart_PKS_ER	ENSG00000169710		0.677	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FASN	HGNC	protein_coding	OTTHUMT00000442369.1		0.00	20	0	A	NM_004104		80041136	-1			no_errors	ENST00000306749	ensembl	human	known	74_37	missense	12.50	42	6	SNP	1.000	T
FASN	2194	genome.wustl.edu	37	17	80042404	80042404	+	Missense_Mutation	SNP	G	G	A			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr17:80042404G>A	ENST00000306749.2	-	27	4971	c.4753C>T	c.(4753-4755)Cct>Tct	p.P1585S	FASN_ENST00000579758.1_5'Flank	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	1585					acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	ATGGCATCAGGGGACAGCTTG	0.687																																					Colon(59;314 1043 11189 28578 32273)												0													26.0	25.0	25.0					17																	80042404		2187	4292	6479	SO:0001583	missense	0			U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	3594	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 27X, member 1"""	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.4753C>T	17.37:g.80042404G>A	ENSP00000304592:p.Pro1585Ser		Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Missense_Mutation	SNP	pfam_Acyl_transferase,pfam_Ketoacyl_synth_N,pfam_Thioesterase,pfam_PKS_KR,pfam_DH_sc/Rdtase_SDR,pfam_Ketoacyl_synth_C,pfam_ADH_C,pfam_Acyl_carrier_prot-like,pfam_Methyltransf_12,pfam_Methyltransf_11,superfamily_Thiolase-like,superfamily_Acyl_Trfase/lysoPLipase,superfamily_GroES-like,superfamily_Acyl_carrier_prot-like,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_Beta-ketoAc_synthase_dom,smart_PKS_acyl_transferase,smart_PKS_dehydratase,smart_PKS_ER,smart_PKS/FAS_KR,smart_PKS_PP-bd,pfscan_Acyl_carrier_prot-like	p.P1585S	ENST00000306749.2	37	c.4753	CCDS11801.1	17	.	.	.	.	.	.	.	.	.	.	G	17.81	3.480557	0.63849	.	.	ENSG00000169710	ENST00000306749;ENST00000545909	T	0.29655	1.56	4.5	4.5	0.54988	GroES-like (1);Polyketide synthase, enoylreductase (1);	0.059465	0.64402	D	0.000002	T	0.52092	0.1713	L	0.58428	1.81	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	T	0.55127	-0.8189	10	0.54805	T	0.06	-18.3882	17.1837	0.86861	0.0:0.0:1.0:0.0	.	1585	P49327	FAS_HUMAN	S	1585;550	ENSP00000304592:P1585S	ENSP00000304592:P1585S	P	-	1	0	FASN	77635693	1.000000	0.71417	0.822000	0.32727	0.344000	0.29017	5.503000	0.66962	2.043000	0.60533	0.313000	0.20887	CCT	FASN	-	superfamily_GroES-like,smart_PKS_ER	ENSG00000169710		0.687	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FASN	HGNC	protein_coding	OTTHUMT00000442369.1	-	0.00	12	0	G	NM_004104		80042404	-1	tier1	-	no_errors	ENST00000306749	ensembl	human	known	74_37	missense	16.18	57	11	SNP	1.000	A
FBN2	2201	genome.wustl.edu	37	5	127681105	127681105	+	Missense_Mutation	SNP	C	C	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr5:127681105C>T	ENST00000508053.1	-	30	4135	c.3161G>A	c.(3160-3162)cGc>cAc	p.R1054H	FBN2_ENST00000262464.4_Missense_Mutation_p.R1054H|FBN2_ENST00000508989.1_Missense_Mutation_p.R1021H			P35556	FBN2_HUMAN	fibrillin 2	1054					anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GCCAGCCCCGCGGGGGCACAG	0.622																																																	0													81.0	87.0	85.0					5																	127681105		2203	4300	6503	SO:0001583	missense	0			U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.3161G>A	5.37:g.127681105C>T	ENSP00000424571:p.Arg1054His		B4DU01|Q59ES6	Missense_Mutation	SNP	pirsf_FBN,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.R1054H	ENST00000508053.1	37	c.3161	CCDS34222.1	5	.	.	.	.	.	.	.	.	.	.	C	27.4	4.831045	0.91036	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000508989	D;D;D	0.90676	-2.71;-2.71;-2.71	4.32	4.32	0.51571	Matrix fibril-associated (2);	0.000000	0.56097	D	0.000021	D	0.93396	0.7894	L	0.45470	1.425	0.49213	D	0.999768	D;D	0.76494	0.998;0.999	D;D	0.76071	0.925;0.987	D	0.93178	0.6572	10	0.49607	T	0.09	.	18.1231	0.89578	0.0:1.0:0.0:0.0	.	1021;1054	D6RJI3;P35556	.;FBN2_HUMAN	H	1054;1054;1021	ENSP00000262464:R1054H;ENSP00000424571:R1054H;ENSP00000425596:R1021H	ENSP00000262464:R1054H	R	-	2	0	FBN2	127709004	0.992000	0.36948	0.996000	0.52242	0.755000	0.42902	7.575000	0.82447	2.701000	0.92244	0.563000	0.77884	CGC	FBN2	-	pirsf_FBN,superfamily_TB_dom	ENSG00000138829		0.622	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN2	HGNC	protein_coding	OTTHUMT00000371618.2	-	0.00	9	0	C	NM_001999		127681105	-1	tier1	-	no_errors	ENST00000262464	ensembl	human	known	74_37	missense	22.95	47	14	SNP	1.000	T
FCGBP	8857	genome.wustl.edu	37	19	40433435	40433435	+	Nonsense_Mutation	SNP	G	G	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr19:40433435G>T	ENST00000221347.6	-	2	841	c.834C>A	c.(832-834)taC>taA	p.Y278*		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	278	IgGFc-binding.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CCCCATGGTTGTAGGTCAGCT	0.592																																																	0													54.0	47.0	50.0					19																	40433435		2203	4300	6503	SO:0001587	stop_gained	0			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.834C>A	19.37:g.40433435G>T	ENSP00000221347:p.Tyr278*		O95784	Nonsense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out	p.Y278*	ENST00000221347.6	37	c.834	CCDS12546.1	19	.	.	.	.	.	.	.	.	.	.	G	13.20	2.165682	0.38217	.	.	ENSG00000090920	ENST00000221347	.	.	.	3.9	-2.05	0.07321	.	0.652414	0.13529	N	0.381064	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.7631	0.46277	0.578:0.0:0.422:0.0	.	.	.	.	X	278	.	ENSP00000221347:Y278X	Y	-	3	2	FCGBP	45125275	0.001000	0.12720	0.035000	0.18076	0.060000	0.15804	0.149000	0.16243	-0.522000	0.06417	-0.797000	0.03246	TAC	FCGBP	-	NULL	ENSG00000090920		0.592	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGBP	HGNC	protein_coding	OTTHUMT00000462507.1		0.00	12	0	G	NM_003890		40433435	-1			no_errors	ENST00000221347	ensembl	human	known	74_37	nonsense	5.71	33	2	SNP	0.010	T
FCRL3	115352	genome.wustl.edu	37	1	157667559	157667559	+	Missense_Mutation	SNP	G	G	A			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr1:157667559G>A	ENST00000368184.3	-	5	740	c.449C>T	c.(448-450)aCa>aTa	p.T150I	FCRL3_ENST00000473231.1_5'UTR|RP11-367J7.3_ENST00000453692.1_RNA|FCRL3_ENST00000368186.5_Missense_Mutation_p.T150I	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	150	Ig-like C2-type 2.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					TGAATTCACTGTGATCTTCTC	0.338																																																	0													181.0	183.0	182.0					1																	157667559		2203	4300	6503	SO:0001583	missense	0			AF459027	CCDS1167.1	1q21-q22	2013-01-11			ENSG00000160856	ENSG00000160856		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18506	protein-coding gene	gene with protein product		606510				11493702, 12014205	Standard	XR_241065		Approved	FCRH3, IRTA3, IFGP3, SPAP2a, SPAP2, SPAP2b, SPAP2c, SPAP2d, SPAP2e, CD307c	uc001frb.3	Q96P31	OTTHUMG00000019400	ENST00000368184.3:c.449C>T	1.37:g.157667559G>A	ENSP00000357167:p.Thr150Ile		A0N0M4|A8MTH7|D3DVD2|Q5VXZ8|Q8N6S2|Q96LA4|Q96P27|Q96P28|Q96P29|Q96P30	Missense_Mutation	SNP	pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.T150I	ENST00000368184.3	37	c.449	CCDS1167.1	1	.	.	.	.	.	.	.	.	.	.	G	3.141	-0.176238	0.06380	.	.	ENSG00000160856	ENST00000368186;ENST00000368184;ENST00000292392	T;T	0.11495	2.77;2.77	5.3	-10.6	0.00265	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	13.680700	0.00397	N	0.000040	T	0.01592	0.0051	L	0.35723	1.085	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.12837	0.008;0.003	T	0.30387	-0.9980	10	0.21014	T	0.42	.	4.4518	0.11624	0.5651:0.1301:0.0932:0.2117	.	150;150	Q96P31;Q96P31-6	FCRL3_HUMAN;.	I	150	ENSP00000357169:T150I;ENSP00000357167:T150I	ENSP00000292392:T150I	T	-	2	0	FCRL3	155934183	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.305000	0.00519	-3.131000	0.00236	-2.205000	0.00302	ACA	FCRL3	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000160856		0.338	FCRL3-006	NOVEL	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	FCRL3	HGNC	protein_coding	OTTHUMT00000051419.2	-	0.00	12	0	G	NM_052939		157667559	-1	tier1	-	no_errors	ENST00000492769	ensembl	human	known	74_37	missense	30.26	53	23	SNP	0.000	A
FGFR2	2263	genome.wustl.edu	37	10	123245031	123245031	+	Silent	SNP	C	C	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr10:123245031C>T	ENST00000358487.5	-	16	2345	c.2073G>A	c.(2071-2073)gtG>gtA	p.V691V	FGFR2_ENST00000351936.6_Silent_p.V689V|FGFR2_ENST00000369056.1_Silent_p.V692V|FGFR2_ENST00000356226.4_Silent_p.V574V|FGFR2_ENST00000369060.4_Silent_p.V575V|FGFR2_ENST00000346997.2_Silent_p.V689V|FGFR2_ENST00000369059.1_Silent_p.V577V|FGFR2_ENST00000360144.3_Silent_p.V603V|FGFR2_ENST00000369061.4_Silent_p.V579V|FGFR2_ENST00000357555.5_Silent_p.V602V|FGFR2_ENST00000457416.2_Silent_p.V692V|FGFR2_ENST00000478859.1_Silent_p.V463V	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	691	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|bone development (GO:0060348)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of a nerve (GO:0048755)|bud elongation involved in lung branching (GO:0060449)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|coronal suture morphogenesis (GO:0060365)|digestive tract development (GO:0048565)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic organ development (GO:0048568)|embryonic organ morphogenesis (GO:0048562)|embryonic pattern specification (GO:0009880)|endodermal digestive tract morphogenesis (GO:0061031)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis morphogenesis (GO:0048730)|epithelial cell differentiation (GO:0030855)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in hemopoiesis (GO:0035603)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptotic process in bone marrow (GO:0035602)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow (GO:0035604)|gland morphogenesis (GO:0022612)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lacrimal gland development (GO:0032808)|lateral sprouting from an epithelium (GO:0060601)|lens fiber cell development (GO:0070307)|limb bud formation (GO:0060174)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung lobe morphogenesis (GO:0060463)|lung-associated mesenchyme development (GO:0060484)|mammary gland bud formation (GO:0060615)|membranous septum morphogenesis (GO:0003149)|mesenchymal cell differentiation (GO:0048762)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesodermal cell differentiation (GO:0048333)|midbrain development (GO:0030901)|morphogenesis of embryonic epithelium (GO:0016331)|multicellular organism growth (GO:0035264)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis (GO:0042476)|orbitofrontal cortex development (GO:0021769)|organ growth (GO:0035265)|organ morphogenesis (GO:0009887)|otic vesicle formation (GO:0030916)|outflow tract septum morphogenesis (GO:0003148)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|post-embryonic development (GO:0009791)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|prostate gland morphogenesis (GO:0060512)|protein autophosphorylation (GO:0046777)|pyramidal neuron development (GO:0021860)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of morphogenesis of a branching structure (GO:0060688)|regulation of multicellular organism growth (GO:0040014)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoblast proliferation (GO:0033688)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of smoothened signaling pathway (GO:0008589)|reproductive structure development (GO:0048608)|skeletal system morphogenesis (GO:0048705)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|synaptic vesicle transport (GO:0048489)|ureteric bud development (GO:0001657)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular zone neuroblast division (GO:0021847)	cell cortex (GO:0005938)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Thalidomide(DB01041)	CCCACATTAACACCCCGAAGG	0.507		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome																															Dom	yes		10	10q26	2263	fibroblast growth factor receptor 2	yes	E	0													95.0	85.0	89.0					10																	123245031		2203	4300	6503	SO:0001819	synonymous_variant	0	Familial Cancer Database	Acrocephalosyndactyly type III;Acrocephalosyndactyly type I and II, ACS1. ACS2, incl Apert-Crouzon s.	AK026508	CCDS7620.2, CCDS31298.1, CCDS44485.1, CCDS44486.1, CCDS44487.1, CCDS44488.1, CCDS44489.1, CCDS53584.1, CCDS73210.1	10q25.3-q26	2013-01-11	2008-08-01		ENSG00000066468	ENSG00000066468		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3689	protein-coding gene	gene with protein product	"""Crouzon syndrome"", ""Pfeiffer syndrome"""	176943	"""bacteria-expressed kinase"", ""keratinocyte growth factor receptor"", ""craniofacial dysostosis 1"", ""Jackson-Weiss syndrome"""	KGFR, BEK, CFD1, JWS			Standard	NM_022970		Approved	CEK3, TK14, TK25, ECT1, K-SAM, CD332	uc021pzy.1	P21802	OTTHUMG00000019175	ENST00000358487.5:c.2073G>A	10.37:g.123245031C>T			B4DFC2|E7EVR6|E9PCR0|P18443|Q01742|Q12922|Q14300|Q14301|Q14302|Q14303|Q14304|Q14305|Q14672|Q14718|Q14719|Q1KHY5|Q86YI4|Q8IXC7|Q96KL9|Q96KM0|Q96KM1|Q96KM2|Q9NZU2|Q9NZU3|Q9UD01|Q9UD02|Q9UIH3|Q9UIH4|Q9UIH5|Q9UIH6|Q9UIH7|Q9UIH8|Q9UM87|Q9UMC6|Q9UNS7|Q9UQH7|Q9UQH8|Q9UQH9|Q9UQI0	Silent	SNP	pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.V692	ENST00000358487.5	37	c.2076	CCDS31298.1	10																																																																																			FGFR2	-	pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000066468		0.507	FGFR2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	FGFR2	HGNC	protein_coding	OTTHUMT00000050715.1	-	0.00	12	0	C	NM_022976, NM_000141		123245031	-1	tier1	-	no_errors	ENST00000457416	ensembl	human	known	74_37	silent	21.43	33	9	SNP	1.000	T
FKBP15	23307	genome.wustl.edu	37	9	115940968	115940968	+	Silent	SNP	G	G	A			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr9:115940968G>A	ENST00000238256.3	-	20	2145	c.2028C>T	c.(2026-2028)agC>agT	p.S676S		NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	676					endocytosis (GO:0006897)|negative regulation of phosphatase activity (GO:0010923)|protein folding (GO:0006457)	actin filament (GO:0005884)|axon (GO:0030424)|endosome (GO:0005768)|growth cone (GO:0030426)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						TCTCCTTCAGGCTTTCTGTCA	0.512																																																	0													62.0	57.0	58.0					9																	115940968		1929	4147	6076	SO:0001819	synonymous_variant	0			AB014574	CCDS48007.1	9q33.1	2014-05-09	2006-10-31	2006-10-31	ENSG00000119321	ENSG00000119321		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	23397	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 76"", ""WASP and FKBP-like protein"""		"""KIAA0674"""	KIAA0674		16756961, 20376207	Standard	NM_015258		Approved	PPP1R76, FKBP133, WAFL	uc004bgs.2	Q5T1M5	OTTHUMG00000020518	ENST00000238256.3:c.2028C>T	9.37:g.115940968G>A			Q05DK8|Q5T1M2|Q6DD85|Q9Y4D0	Silent	SNP	pfam_PPIase_FKBP_dom,superfamily_Regulat_G_prot_signal_superfam,pfscan_PPIase_FKBP_dom	p.S676	ENST00000238256.3	37	c.2028	CCDS48007.1	9																																																																																			FKBP15	-	superfamily_Regulat_G_prot_signal_superfam	ENSG00000119321		0.512	FKBP15-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FKBP15	HGNC	protein_coding			0.00	23	0	G	NM_015258		115940968	-1			no_errors	ENST00000238256	ensembl	human	known	74_37	silent	5.80	65	4	SNP	0.023	A
FLG	2312	genome.wustl.edu	37	1	152281390	152281390	+	Missense_Mutation	SNP	G	G	A	rs556604607	byFrequency	TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr1:152281390G>A	ENST00000368799.1	-	3	6007	c.5972C>T	c.(5971-5973)gCg>gTg	p.A1991V	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1991	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATGGGATGACGCAGCCTGTCC	0.572									Ichthyosis				-|||	3	0.000599042	0.0	0.0014	5008	,	,		29259	0.001		0.0	False		,,,				2504	0.001																0													583.0	464.0	504.0					1																	152281390		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.5972C>T	1.37:g.152281390G>A	ENSP00000357789:p.Ala1991Val		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin	p.A1991V	ENST00000368799.1	37	c.5972	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	g	6.936	0.542493	0.13250	.	.	ENSG00000143631	ENST00000368799	T	0.00864	5.6	3.4	-3.76	0.04359	.	.	.	.	.	T	0.00356	0.0011	M	0.68317	2.08	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.43475	-0.9389	9	0.27082	T	0.32	.	0.9917	0.01458	0.1861:0.3499:0.1805:0.2835	.	1991	P20930	FILA_HUMAN	V	1991	ENSP00000357789:A1991V	ENSP00000357789:A1991V	A	-	2	0	FLG	150548014	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-5.760000	0.00100	-0.583000	0.05921	-2.137000	0.00340	GCG	FLG	-	NULL	ENSG00000143631		0.572	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1	-	0.00	105	0	G	NM_002016		152281390	-1	tier1	-	no_errors	ENST00000368799	ensembl	human	known	74_37	missense	26.89	242	89	SNP	0.000	A
FLNB	2317	genome.wustl.edu	37	3	58109286	58109286	+	Missense_Mutation	SNP	C	C	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr3:58109286C>T	ENST00000295956.4	+	21	3758	c.3593C>T	c.(3592-3594)aCg>aTg	p.T1198M	FLNB_ENST00000429972.2_Missense_Mutation_p.T1198M|FLNB_ENST00000493452.1_Missense_Mutation_p.T1029M|FLNB_ENST00000348383.5_Missense_Mutation_p.T1198M|FLNB_ENST00000490882.1_Missense_Mutation_p.T1198M|FLNB_ENST00000419752.2_Missense_Mutation_p.T1029M|FLNB_ENST00000358537.3_Missense_Mutation_p.T1198M|FLNB_ENST00000357272.4_Missense_Mutation_p.T1198M	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	1198	Interaction with FBLP1.				actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GTGCCCCTGACGGCCGGCATG	0.607																																																	0													51.0	48.0	49.0					3																	58109286		2198	4298	6496	SO:0001583	missense	0			AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"""actin binding protein 278"""	603381	"""filamin B, beta (actin binding protein 278)"", ""Larsen syndrome 1 (autosomal dominant)"""	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.3593C>T	3.37:g.58109286C>T	ENSP00000295956:p.Thr1198Met		B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Missense_Mutation	SNP	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.T1198M	ENST00000295956.4	37	c.3593	CCDS2885.1	3	.	.	.	.	.	.	.	.	.	.	C	10.75	1.436937	0.25900	.	.	ENSG00000136068	ENST00000295956;ENST00000490882;ENST00000358537;ENST00000429972;ENST00000348383;ENST00000357272;ENST00000493452;ENST00000419752	D;D;D;D;D;D;D;D	0.84873	-1.91;-1.91;-1.91;-1.91;-1.91;-1.91;-1.91;-1.91	5.89	5.89	0.94794	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.380247	0.31897	N	0.006899	T	0.76695	0.4023	L	0.31926	0.97	0.09310	N	1	B;B;B;B;B;B	0.31040	0.056;0.232;0.059;0.006;0.305;0.305	B;B;B;B;B;B	0.23275	0.017;0.028;0.037;0.014;0.045;0.045	T	0.67373	-0.5687	10	0.34782	T	0.22	.	13.457	0.61204	0.0:0.9288:0.0:0.0712	.	1198;1198;1029;1029;1198;1198	O75369-2;B2ZZ83;E7EN95;O75369-7;Q60FE7;O75369	.;.;.;.;.;FLNB_HUMAN	M	1198;1198;1198;1198;1198;1198;1029;1029	ENSP00000295956:T1198M;ENSP00000420213:T1198M;ENSP00000351339:T1198M;ENSP00000415599:T1198M;ENSP00000232447:T1198M;ENSP00000349819:T1198M;ENSP00000418510:T1029M;ENSP00000414532:T1029M	ENSP00000295956:T1198M	T	+	2	0	FLNB	58084326	0.004000	0.15560	0.952000	0.39060	0.780000	0.44128	0.814000	0.27239	2.793000	0.96121	0.655000	0.94253	ACG	FLNB	-	pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like	ENSG00000136068		0.607	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLNB	HGNC	protein_coding	OTTHUMT00000353569.1	-	0.00	17	0	C	NM_001457		58109286	+1	tier1	-	no_errors	ENST00000295956	ensembl	human	known	74_37	missense	20.37	43	11	SNP	0.047	T
FOLH1B	219595	genome.wustl.edu	37	11	89395322	89395322	+	RNA	SNP	C	C	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr11:89395322C>T	ENST00000532352.1	+	0	720							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						TTTCAGAATACGCTTATAGGC	0.343																																																	0																																												0			AF261715		11q14.3	2014-03-18			ENSG00000134612	ENSG00000134612			13636	protein-coding gene	gene with protein product	"""prostate specific membrane antigen like protein"", ""Cell growth-inhibiting gene 26 protein"", ""glutamate carboxypeptidase III"""	609020	"""folate hydrolase 2"""	FOLH2, FOLHP		9838072, 14716746	Standard	NM_153696		Approved	PSMAL, GCPIII	uc001pda.3	Q9HBA9	OTTHUMG00000167376		11.37:g.89395322C>T				RNA	SNP	-	NULL	ENST00000532352.1	37	NULL		11																																																																																			FOLH1B	-	-	ENSG00000134612		0.343	FOLH1B-004	KNOWN	basic	processed_transcript	FOLH1B	HGNC	pseudogene	OTTHUMT00000395421.1		0.00	15	0	C	NM_153696		89395322	+1			no_errors	ENST00000525540	ensembl	human	known	74_37	rna	7.84	47	4	SNP	0.999	T
FOLH1B	219595	genome.wustl.edu	37	11	89395333	89395333	+	RNA	SNP	A	A	G			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr11:89395333A>G	ENST00000532352.1	+	0	731							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						GCTTATAGGCATGGAATTGCA	0.348																																																	0																																												0			AF261715		11q14.3	2014-03-18			ENSG00000134612	ENSG00000134612			13636	protein-coding gene	gene with protein product	"""prostate specific membrane antigen like protein"", ""Cell growth-inhibiting gene 26 protein"", ""glutamate carboxypeptidase III"""	609020	"""folate hydrolase 2"""	FOLH2, FOLHP		9838072, 14716746	Standard	NM_153696		Approved	PSMAL, GCPIII	uc001pda.3	Q9HBA9	OTTHUMG00000167376		11.37:g.89395333A>G				RNA	SNP	-	NULL	ENST00000532352.1	37	NULL		11																																																																																			FOLH1B	-	-	ENSG00000134612		0.348	FOLH1B-004	KNOWN	basic	processed_transcript	FOLH1B	HGNC	pseudogene	OTTHUMT00000395421.1		0.00	17	0	A	NM_153696		89395333	+1			no_errors	ENST00000525540	ensembl	human	known	74_37	rna	6.45	58	4	SNP	0.044	G
FOXA2	3170	genome.wustl.edu	37	20	22563118	22563118	+	Silent	SNP	G	G	A			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr20:22563118G>A	ENST00000377115.4	-	3	925	c.744C>T	c.(742-744)taC>taT	p.Y248Y	FOXA2_ENST00000419308.2_Silent_p.Y254Y	NM_153675.2	NP_710141.1	Q9Y261	FOXA2_HUMAN	forkhead box A2	248					adult locomotory behavior (GO:0008344)|cell development (GO:0048468)|cell differentiation in hindbrain (GO:0021533)|cell fate specification (GO:0001708)|chromatin modification (GO:0016568)|connective tissue development (GO:0061448)|dopaminergic neuron differentiation (GO:0071542)|dorsal/ventral neural tube patterning (GO:0021904)|ectoderm formation (GO:0001705)|endocrine pancreas development (GO:0031018)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|in utero embryonic development (GO:0001701)|lung epithelial cell differentiation (GO:0060487)|negative regulation of detection of glucose (GO:2000971)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of glucokinase activity (GO:0033132)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter by glucose (GO:0000433)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by glucose (GO:0000432)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|primitive streak formation (GO:0090009)|regulation of blood coagulation (GO:0030193)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in detection of glucose (GO:2000976)|response to interleukin-6 (GO:0070741)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22	Lung NSC(19;0.188)					GGCGGCGCAGGTAGCAGCCGT	0.687																																																	0													13.0	16.0	15.0					20																	22563118		2200	4298	6498	SO:0001819	synonymous_variant	0			AF147787	CCDS13147.1, CCDS46585.1	20p11	2008-04-10		2002-09-20	ENSG00000125798	ENSG00000125798		"""Forkhead boxes"""	5022	protein-coding gene	gene with protein product		600288	"""hepatocyte nuclear factor 3, beta"""	HNF3B		9119385, 11875061	Standard	NM_153675		Approved		uc002wsm.3	Q9Y261	OTTHUMG00000032041	ENST00000377115.4:c.744C>T	20.37:g.22563118G>A			Q8WUW4|Q96DF7	Silent	SNP	pfam_TF_fork_head,pfam_Fork-head_N,pfam_Forkhead_box_C,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.Y254	ENST00000377115.4	37	c.762	CCDS13147.1	20																																																																																			FOXA2	-	pfam_TF_fork_head,pfscan_TF_fork_head	ENSG00000125798		0.687	FOXA2-001	KNOWN	basic|CCDS	protein_coding	FOXA2	HGNC	protein_coding	OTTHUMT00000078289.1		0.00	11	0	G			22563118	-1			no_errors	ENST00000419308	ensembl	human	known	74_37	silent	11.11	56	7	SNP	1.000	A
LRRC53	100144878	genome.wustl.edu	37	1	74954920	74954920	+	Intron	SNP	C	C	A			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr1:74954920C>A	ENST00000294635.4	-	2	89				FPGT-TNNI3K_ENST00000557284.2_Silent_p.L837L|TNNI3K_ENST00000326637.3_Silent_p.L723L|TNNI3K_ENST00000370891.2_Silent_p.L824L			A6NM62	LRC53_HUMAN	leucine rich repeat containing 53							integral component of membrane (GO:0016021)		p.L723L(1)		NS(1)|breast(1)|lung(2)	4						AAGAGTGTCTCTGCAACATTG	0.383																																																	1	Substitution - coding silent(1)	kidney(1)											75.0	86.0	82.0					1																	74954920		2203	4300	6503	SO:0001627	intron_variant	0					1p31.3	2010-08-31			ENSG00000162621	ENSG00000162621			25255	protein-coding gene	gene with protein product							Standard			Approved			A6NM62	OTTHUMG00000009621	ENST00000294635.4:c.26-5861G>T	1.37:g.74954920C>A				Silent	SNP	pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt,prints_Ser-Thr/Tyr_kinase_cat_dom	p.L837	ENST00000294635.4	37	c.2511		1																																																																																			FPGT-TNNI3K	-	superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom	ENSG00000259030		0.383	LRRC53-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	FPGT-TNNI3K	HGNC	protein_coding	OTTHUMT00000026515.2	-	0.00	13	0	C			74954920	+1	tier1	-	no_errors	ENST00000557284	ensembl	human	known	74_37	silent	28.95	54	22	SNP	0.993	A
FUBP1	8880	genome.wustl.edu	37	1	78414982	78414982	+	Missense_Mutation	SNP	T	T	C			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr1:78414982T>C	ENST00000370768.2	-	19	1865	c.1784A>G	c.(1783-1785)cAg>cGg	p.Q595R	FUBP1_ENST00000489495.1_5'Flank|FUBP1_ENST00000436586.2_Missense_Mutation_p.Q616R|FUBP1_ENST00000370767.1_Missense_Mutation_p.Q595R	NM_003902.3	NP_003893.2	Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	595					positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						AGGAACTGCCTGACCTTTGAA	0.428			"""F, N"""		oligodendroglioma																																			Rec	yes		1	1p13.1	8880	far upstream element (FUSE) binding protein 1		O	0													57.0	61.0	60.0					1																	78414982		2203	4300	6503	SO:0001583	missense	0			U05040	CCDS683.1	1p31.1	2008-02-05			ENSG00000162613	ENSG00000162613			4004	protein-coding gene	gene with protein product		603444		FUBP		8125259	Standard	XM_005271309		Approved	FBP	uc001dii.3	Q96AE4	OTTHUMG00000040799	ENST00000370768.2:c.1784A>G	1.37:g.78414982T>C	ENSP00000359804:p.Gln595Arg		Q12828	Missense_Mutation	SNP	pfam_KH_dom_type_1,pfam_KH_dom_type_2,pfam_DUF1897,smart_KH_dom,pfscan_KH_dom_type_1	p.Q616R	ENST00000370768.2	37	c.1847	CCDS683.1	1	.	.	.	.	.	.	.	.	.	.	T	13.85	2.359621	0.41801	.	.	ENSG00000162613	ENST00000370773;ENST00000370767;ENST00000370768;ENST00000394922;ENST00000436586	T;T;T	0.35605	1.3;1.32;1.34	5.7	5.7	0.88788	Domain of unknown function DUF1897 (1);	0.000000	0.85682	D	0.000000	T	0.28167	0.0695	M	0.76170	2.325	0.80722	D	1	B;B	0.33000	0.393;0.393	B;B	0.31495	0.131;0.131	T	0.12243	-1.0555	10	0.41790	T	0.15	-12.7087	15.9583	0.79906	0.0:0.0:0.0:1.0	.	616;595	B4DT31;Q96AE4	.;FUBP1_HUMAN	R	595;595;595;580;616	ENSP00000359803:Q595R;ENSP00000359804:Q595R;ENSP00000389536:Q616R	ENSP00000294623:Q594R	Q	-	2	0	FUBP1	78187570	1.000000	0.71417	1.000000	0.80357	0.268000	0.26511	6.948000	0.75965	2.171000	0.68590	0.533000	0.62120	CAG	FUBP1	-	pfam_DUF1897	ENSG00000162613		0.428	FUBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FUBP1	HGNC	protein_coding	OTTHUMT00000098030.3		0.00	14	0	T	NM_003902		78414982	-1			no_errors	ENST00000436586	ensembl	human	known	74_37	missense	11.54	23	3	SNP	1.000	C
GAA	2548	genome.wustl.edu	37	17	78086727	78086727	+	Silent	SNP	C	C	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr17:78086727C>T	ENST00000302262.3	+	14	2160	c.1941C>T	c.(1939-1941)tgC>tgT	p.C647C	GAA_ENST00000390015.3_Silent_p.C647C	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	647			C -> W (in GSD2). {ECO:0000269|PubMed:7981676, ECO:0000269|PubMed:9535769}.		cardiac muscle contraction (GO:0060048)|diaphragm contraction (GO:0002086)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|heart morphogenesis (GO:0003007)|locomotory behavior (GO:0007626)|lysosome organization (GO:0007040)|maltose metabolic process (GO:0000023)|muscle cell cellular homeostasis (GO:0046716)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|regulation of the force of heart contraction (GO:0002026)|sucrose metabolic process (GO:0005985)|tissue development (GO:0009888)|vacuolar sequestering (GO:0043181)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)|Miglitol(DB00491)	CCGACGTCTGCGGCTTCCTGG	0.637																																																	0			GRCh37	CM940802	GAA	M							18.0	20.0	19.0					17																	78086727		2202	4300	6502	SO:0001819	synonymous_variant	0				CCDS32760.1	17q25.2-q25.3	2014-09-17	2008-08-01				3.2.1.20		4065	protein-coding gene	gene with protein product	"""Pompe disease"", ""glycogen storage disease type II"""	606800					Standard	NM_000152		Approved		uc002jxq.3	P10253		ENST00000302262.3:c.1941C>T	17.37:g.78086727C>T			Q09GN4|Q14351|Q16302|Q8IWE7	Silent	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil	p.C647	ENST00000302262.3	37	c.1941	CCDS32760.1	17																																																																																			GAA	-	pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF	ENSG00000171298		0.637	GAA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GAA	HGNC	protein_coding	OTTHUMT00000437441.1	-	0.00	30	0	C			78086727	+1	tier1	-	no_errors	ENST00000302262	ensembl	human	known	74_37	silent	21.21	104	28	SNP	0.969	T
GABRG1	2565	genome.wustl.edu	37	4	46060358	46060358	+	Frame_Shift_Del	DEL	A	A	-			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr4:46060358delA	ENST00000295452.4	-	7	959	c.792delT	c.(790-792)tttfs	p.F264fs		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	264					gamma-aminobutyric acid signaling pathway (GO:0007214)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.F264fs*3(1)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TGCTCAGGTCAAAAAAAATTG	0.294																																																	1	Deletion - Frameshift(1)	large_intestine(1)											94.0	97.0	96.0					4																	46060358		2203	4300	6503	SO:0001589	frameshift_variant	0			BC031087	CCDS3470.1	4p12	2012-06-22			ENSG00000163285	ENSG00000163285		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4086	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma"""	137166				1321425	Standard	NM_173536		Approved		uc003gxb.3	Q8N1C3	OTTHUMG00000128609	ENST00000295452.4:c.792delT	4.37:g.46060358delA	ENSP00000295452:p.Phe264fs		Q5H9T8	Frame_Shift_Del	DEL	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,prints_GABAA_rcpt,prints_GABBAg1_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.F264fs	ENST00000295452.4	37	c.792	CCDS3470.1	4																																																																																			GABRG1	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Neur_channel,tigrfam_Neur_channel	ENSG00000163285		0.294	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRG1	HGNC	protein_coding	OTTHUMT00000250470.1		0.00	10	0	A	NM_173536		46060358	-1			no_errors	ENST00000295452	ensembl	human	known	74_37	frame_shift_del	17.07	34	7	DEL	1.000	0
GALNT8	26290	genome.wustl.edu	37	12	4835983	4835983	+	Missense_Mutation	SNP	C	C	T	rs201255097		TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr12:4835983C>T	ENST00000252318.2	+	2	834	c.497C>T	c.(496-498)aCg>aTg	p.T166M	RP11-234B24.6_ENST00000544741.2_3'UTR	NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	polypeptide N-acetylgalactosaminyltransferase 8	166					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.T166M(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						ATCCCCGACACGCGAGACTAC	0.572																																					Colon(108;631 1558 7270 20097 39846)												1	Substitution - Missense(1)	endometrium(1)											67.0	62.0	64.0					12																	4835983		2203	4300	6503	SO:0001583	missense	0			AJ271385	CCDS8533.1	12p13.32	2014-03-13	2014-03-13		ENSG00000130035	ENSG00000130035	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4130	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 8"""	606250	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)"""			10767557	Standard	NM_017417		Approved	GALNAC-T8	uc001qne.1	Q9NY28	OTTHUMG00000166188	ENST00000252318.2:c.497C>T	12.37:g.4835983C>T	ENSP00000252318:p.Thr166Met		B2RU02	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.T166M	ENST00000252318.2	37	c.497	CCDS8533.1	12	.	.	.	.	.	.	.	.	.	.	C	10.87	1.472813	0.26423	.	.	ENSG00000130035	ENST00000252318	T	0.60040	0.22	4.46	3.57	0.40892	.	0.000000	0.56097	D	0.000031	T	0.55577	0.1929	L	0.58969	1.84	0.29611	N	0.846964	D	0.59767	0.986	P	0.48114	0.567	T	0.56505	-0.7968	9	.	.	.	.	7.9087	0.29778	0.0:0.888:0.0:0.112	.	166	Q9NY28	GALT8_HUMAN	M	166	ENSP00000252318:T166M	.	T	+	2	0	GALNT8	4706244	0.744000	0.28250	0.488000	0.27440	0.181000	0.23173	1.196000	0.32198	1.084000	0.41184	0.655000	0.94253	ACG	GALNT8	-	NULL	ENSG00000130035		0.572	GALNT8-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	GALNT8	HGNC	protein_coding	OTTHUMT00000388277.2	-	0.00	18	0	C	NM_017417		4835983	+1	tier1	rs201255097	no_errors	ENST00000252318	ensembl	human	known	74_37	missense	24.49	37	12	SNP	0.860	T
GFRA2	2675	genome.wustl.edu	37	8	21552006	21552006	+	Silent	SNP	G	G	A			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr8:21552006G>A	ENST00000524240.1	-	8	1892	c.1242C>T	c.(1240-1242)aaC>aaT	p.N414N	GFRA2_ENST00000518077.1_Silent_p.N281N|GFRA2_ENST00000517328.1_Silent_p.N414N|GFRA2_ENST00000400782.4_Silent_p.N309N	NM_001495.4	NP_001486.4	O00451	GFRA2_HUMAN	GDNF family receptor alpha 2	414					negative regulation of protein autophosphorylation (GO:0031953)|nervous system development (GO:0007399)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	anchored component of membrane (GO:0031225)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	glial cell-derived neurotrophic factor receptor activity (GO:0016167)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|prostate(1)|skin(1)	7				Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)		ACTCTTTGGAGTTGTTGGCCT	0.607																																																	0													66.0	71.0	69.0					8																	21552006		2002	4172	6174	SO:0001819	synonymous_variant	0			AF002700	CCDS47816.1, CCDS55207.1	8p21.3	2008-05-02			ENSG00000168546	ENSG00000168546			4244	protein-coding gene	gene with protein product		601956				9177201	Standard	NM_001165038		Approved	RETL2, GDNFRB, NTNRA, TRNR2	uc003wzu.1	O00451	OTTHUMG00000163897	ENST00000524240.1:c.1242C>T	8.37:g.21552006G>A			E9PD47|O15316|O15328|Q58J92|Q6GTR9|Q7Z5C2	Silent	SNP	pfam_GDNF/GAS1,smart_GDNF/GAS1,pirsf_Glial_neurotroph_fac_rcpt_a1/2,prints_GDNF_rcpt,prints_GDNF_rcpt_a2	p.N414	ENST00000524240.1	37	c.1242	CCDS47816.1	8																																																																																			GFRA2	-	pirsf_Glial_neurotroph_fac_rcpt_a1/2,prints_GDNF_rcpt_a2	ENSG00000168546		0.607	GFRA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GFRA2	HGNC	protein_coding	OTTHUMT00000376254.3	-	0.00	12	0	G	NM_001495		21552006	-1	tier1	-	no_errors	ENST00000517328	ensembl	human	known	74_37	silent	24.44	33	11	SNP	1.000	A
GK5	256356	genome.wustl.edu	37	3	141944229	141944229	+	Silent	SNP	C	C	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr3:141944229C>T	ENST00000392993.2	-	1	220	c.69G>A	c.(67-69)ggG>ggA	p.G23G	GK5_ENST00000466685.3_5'UTR|GK5_ENST00000544571.1_Silent_p.G23G	NM_001039547.2	NP_001034636.1	Q6ZS86	GLPK5_HUMAN	glycerol kinase 5 (putative)	23					glycerol catabolic process (GO:0019563)		ATP binding (GO:0005524)|glycerol kinase activity (GO:0004370)			kidney(1)|large_intestine(1)|lung(7)|urinary_tract(1)	10						CCACATCCAGCCCCAGCACGA	0.711																																																	0													18.0	18.0	18.0					3																	141944229		2184	4285	6469	SO:0001819	synonymous_variant	0			BX648681	CCDS33871.1	3q23	2014-02-12	2006-09-21		ENSG00000175066	ENSG00000175066		"""Glycerol kinases"""	28635	protein-coding gene	gene with protein product						12477932	Standard	NM_001039547		Approved	MGC40579	uc003euq.2	Q6ZS86	OTTHUMG00000133572	ENST00000392993.2:c.69G>A	3.37:g.141944229C>T			B2R9I2|D3DNG2|Q8N2A7|Q8N5E6	Silent	SNP	pfam_Carb_kinase_FGGY_N,pfam_Carb_kinase_FGGY_C	p.G23	ENST00000392993.2	37	c.69	CCDS33871.1	3																																																																																			GK5	-	pfam_Carb_kinase_FGGY_N	ENSG00000175066		0.711	GK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GK5	HGNC	protein_coding	OTTHUMT00000353999.1		0.00	8	0	C	NM_001039547		141944229	-1			no_errors	ENST00000392993	ensembl	human	known	74_37	silent	10.81	33	4	SNP	1.000	T
GOLGA6L3	100133220	genome.wustl.edu	37	15	83013419	83013419	+	Silent	SNP	G	G	A	rs376513251		TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr15:83013419G>A	ENST00000557886.1	-	6	1263	c.1164C>T	c.(1162-1164)gaC>gaT	p.D388D																	endometrium(6)|kidney(5)|prostate(1)	12						CCTCCACCTCGTCCAGCAGCC	0.647																																																	0													0.0	1.0	1.0					15																	83013419		0	3	3	SO:0001819	synonymous_variant	0																														ENST00000557886.1:c.1164C>T	15.37:g.83013419G>A				Silent	SNP	NULL	p.D388	ENST00000557886.1	37	c.1164		15																																																																																			RP13-996F3.4	-	NULL	ENSG00000259243		0.647	RP13-996F3.4-001	PUTATIVE	basic|appris_principal	protein_coding	GOLGA6L3	Clone_based_vega_gene	protein_coding	OTTHUMT00000419277.1	-	0.00	8	0	G			83013419	-1	tier1	-	no_errors	ENST00000557886	ensembl	human	putative	74_37	silent	34.48	19	10	SNP	0.000	A
GOLGA6L4	643707	genome.wustl.edu	37	15	84909376	84909376	+	Missense_Mutation	SNP	C	C	T	rs532587902	byFrequency	TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr15:84909376C>T	ENST00000510439.2	+	6	1332	c.1270C>T	c.(1270-1272)Cgg>Tgg	p.R424W	GOLGA6L4_ENST00000422563.2_Missense_Mutation_p.R100W|GOLGA6L4_ENST00000424966.1_Missense_Mutation_p.R5W	NM_001267536.1	NP_001254465.1	A6NEF3	GG6L4_HUMAN	golgin A6 family-like 4	424																	GGAGAGGCTTCGGCAACAGGA	0.652													c|||	2	0.000399361	0.0008	0.0	5008	,	,		16992	0.001		0.0	False		,,,				2504	0.0																0																																										SO:0001583	missense	0			BC101294	CCDS73774.1	15q25.2	2012-11-16	2010-02-12		ENSG00000184206	ENSG00000184206			27256	protein-coding gene	gene with protein product			"""golgi autoantigen, golgin subfamily a, 6-like 4"""			12477932	Standard	NG_006151		Approved		uc021stn.2	A6NEF3	OTTHUMG00000163050	ENST00000510439.2:c.1270C>T	15.37:g.84909376C>T	ENSP00000421586:p.Arg424Trp		D6REZ9	Missense_Mutation	SNP	NULL	p.R100W	ENST00000510439.2	37	c.298		15	.	.	.	.	.	.	.	.	.	.	.	3.747	-0.052379	0.07362	.	.	ENSG00000184206	ENST00000510439;ENST00000424966;ENST00000422563	T	0.17854	2.25	0.613	-1.23	0.09465	.	.	.	.	.	T	0.13114	0.0318	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.32161	-0.9917	6	0.28530	T	0.3	.	7.7676	0.28988	0.0:0.3478:0.6522:0.0	.	.	.	.	W	424;5;100	ENSP00000421586:R424W	ENSP00000389305:R100W	R	+	1	2	GOLGA6L4	82700380	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.388000	0.07352	-1.393000	0.02079	-0.849000	0.03036	CGG	GOLGA6L4	-	NULL	ENSG00000184206		0.652	GOLGA6L4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate_longest	protein_coding	GOLGA6L4	HGNC	protein_coding	OTTHUMT00000371478.2	-	0.00	41	0	C	NM_001267536		84909376	+1	tier1	-	no_errors	ENST00000422563	ensembl	human	known	74_37	missense	17.17	82	17	SNP	0.001	T
GPR85	54329	genome.wustl.edu	37	7	112724407	112724407	+	Missense_Mutation	SNP	C	C	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr7:112724407C>T	ENST00000297146.3	-	3	973	c.370G>A	c.(370-372)Gcc>Acc	p.A124T	GPR85_ENST00000501255.2_Missense_Mutation_p.A124T|GPR85_ENST00000449591.1_Missense_Mutation_p.A124T|GPR85_ENST00000424100.1_Missense_Mutation_p.A124T|GPR85_ENST00000487573.1_5'Flank	NM_001146266.1	NP_001139738.1	P60893	GPR85_HUMAN	G protein-coupled receptor 85	124					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	17						CGGTGATGGGCGATAGCTAAA	0.498																																																	0													75.0	76.0	76.0					7																	112724407		2203	4300	6503	SO:0001583	missense	0			AF250237	CCDS5758.1	7q31	2012-08-21			ENSG00000164604	ENSG00000164604		"""GPCR / Class A : Orphans"""	4536	protein-coding gene	gene with protein product		605188				10978537, 10833454	Standard	NM_018970		Approved	SREB2	uc003vgp.1	P60893	OTTHUMG00000156933	ENST00000297146.3:c.370G>A	7.37:g.112724407C>T	ENSP00000297146:p.Ala124Thr		Q9JHI6|Q9NPD1	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.A124T	ENST00000297146.3	37	c.370	CCDS5758.1	7	.	.	.	.	.	.	.	.	.	.	C	23.5	4.419218	0.83559	.	.	ENSG00000164604	ENST00000501255;ENST00000297146;ENST00000424100;ENST00000449591	T;T;T;T	0.36520	1.25;1.25;1.25;1.25	5.54	5.54	0.83059	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.29093	0.0723	L	0.29908	0.895	0.80722	D	1	P	0.42518	0.782	B	0.41988	0.372	T	0.05209	-1.0899	10	0.02654	T	1	.	19.4736	0.94973	0.0:1.0:0.0:0.0	.	124	P60893	GPR85_HUMAN	T	124	ENSP00000445808:A124T;ENSP00000297146:A124T;ENSP00000396763:A124T;ENSP00000401178:A124T	ENSP00000297146:A124T	A	-	1	0	GPR85	112511643	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.609000	0.88269	0.655000	0.94253	GCC	GPR85	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000164604		0.498	GPR85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR85	HGNC	protein_coding	OTTHUMT00000346650.2	-	0.00	10	0	C			112724407	-1	tier1	-	no_errors	ENST00000297146	ensembl	human	known	74_37	missense	71.43	18	45	SNP	1.000	T
GRIA2	2891	genome.wustl.edu	37	4	158255208	158255208	+	Missense_Mutation	SNP	A	A	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr4:158255208A>T	ENST00000264426.9	+	9	1481	c.1202A>T	c.(1201-1203)gAg>gTg	p.E401V	GRIA2_ENST00000393815.2_Missense_Mutation_p.E354V|GRIA2_ENST00000507898.1_Missense_Mutation_p.E354V|GRIA2_ENST00000296526.7_Missense_Mutation_p.E401V|GRIA2_ENST00000449365.1_Missense_Mutation_p.E354V	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	401					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	ACCCTTACTGAGCTCCCTTCT	0.398																																																	0													190.0	175.0	180.0					4																	158255208		2203	4300	6503	SO:0001583	missense	0				CCDS3797.1, CCDS43274.1, CCDS43275.1	4q32.1	2012-08-29			ENSG00000120251	ENSG00000120251		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4572	protein-coding gene	gene with protein product		138247		GLUR2		1311100	Standard	NM_001083619		Approved	GluA2, GLURB	uc003ipl.4	P42262	OTTHUMG00000133836	ENST00000264426.9:c.1202A>T	4.37:g.158255208A>T	ENSP00000264426:p.Glu401Val		A8MT92|I6L997|Q96FP6	Missense_Mutation	SNP	pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.E401V	ENST00000264426.9	37	c.1202	CCDS43274.1	4	.	.	.	.	.	.	.	.	.	.	A	15.97	2.989826	0.54041	.	.	ENSG00000120251	ENST00000507898;ENST00000393815;ENST00000296526;ENST00000264426;ENST00000449365	T;T;T;T;T	0.14640	2.49;2.49;2.54;2.54;2.49	5.5	5.5	0.81552	.	0.235567	0.41500	D	0.000866	T	0.14356	0.0347	L	0.42245	1.32	0.48452	D	0.999657	B;B;B	0.12630	0.0;0.001;0.006	B;B;B	0.09377	0.0;0.001;0.004	T	0.03673	-1.1014	10	0.30854	T	0.27	.	15.8958	0.79333	1.0:0.0:0.0:0.0	.	401;401;354	P42262;P42262-2;A8MT92	GRIA2_HUMAN;.;.	V	354;354;401;401;354	ENSP00000426845:E354V;ENSP00000377403:E354V;ENSP00000296526:E401V;ENSP00000264426:E401V;ENSP00000389837:E354V	ENSP00000264426:E401V	E	+	2	0	GRIA2	158474658	1.000000	0.71417	0.951000	0.38953	0.957000	0.61999	7.324000	0.79115	2.209000	0.71365	0.482000	0.46254	GAG	GRIA2	-	superfamily_Peripla_BP_I	ENSG00000120251		0.398	GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIA2	HGNC	protein_coding	OTTHUMT00000258367.2	-	0.00	13	0	A			158255208	+1	tier1	-	no_errors	ENST00000264426	ensembl	human	known	74_37	missense	15.94	58	11	SNP	0.999	T
GRK7	131890	genome.wustl.edu	37	3	141499486	141499486	+	Missense_Mutation	SNP	T	T	C			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr3:141499486T>C	ENST00000264952.2	+	2	1020	c.883T>C	c.(883-885)Ttt>Ctt	p.F295L		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	295	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	membrane (GO:0016020)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|rhodopsin kinase activity (GO:0050254)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						CCGGGTGATCTTTTACTCGGC	0.562																																																	0													99.0	91.0	94.0					3																	141499486		2203	4300	6503	SO:0001583	missense	0				CCDS3120.1	3q24	2004-02-04	2004-02-04	2004-02-04	ENSG00000114124	ENSG00000114124			17031	protein-coding gene	gene with protein product		606987		GPRK7		11717351, 11754336	Standard	NM_139209		Approved		uc011bnd.2	Q8WTQ7	OTTHUMG00000159068	ENST00000264952.2:c.883T>C	3.37:g.141499486T>C	ENSP00000264952:p.Phe295Leu			Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RGS_dom,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Regulat_G_prot_signal_superfam,pfscan_Prot_kinase_dom,prints_GPCR_kinase	p.F295L	ENST00000264952.2	37	c.883	CCDS3120.1	3	.	.	.	.	.	.	.	.	.	.	T	18.74	3.688147	0.68271	.	.	ENSG00000114124	ENST00000264952	T	0.64991	-0.13	5.1	5.1	0.69264	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.172850	0.52532	D	0.000071	T	0.57095	0.2030	L	0.41906	1.305	0.34697	D	0.726337	P	0.40534	0.72	B	0.40636	0.335	T	0.72191	-0.4365	10	0.72032	D	0.01	-14.8291	14.8761	0.70496	0.0:0.0:0.0:1.0	.	295	Q8WTQ7	GRK7_HUMAN	L	295	ENSP00000264952:F295L	ENSP00000264952:F295L	F	+	1	0	GRK7	142982176	1.000000	0.71417	0.999000	0.59377	0.930000	0.56654	3.235000	0.51328	1.909000	0.55274	0.533000	0.62120	TTT	GRK7	-	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	ENSG00000114124		0.562	GRK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRK7	HGNC	protein_coding	OTTHUMT00000353168.1		0.00	13	0	T	NM_139209		141499486	+1			no_errors	ENST00000264952	ensembl	human	known	74_37	missense	6.06	31	2	SNP	1.000	C
GRM3	2913	genome.wustl.edu	37	7	86468292	86468292	+	Nonsense_Mutation	SNP	G	G	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr7:86468292G>T	ENST00000361669.2	+	4	2561	c.1462G>T	c.(1462-1464)Gaa>Taa	p.E488*	GRM3_ENST00000546348.1_Nonsense_Mutation_p.E80*|GRM3_ENST00000439827.1_Intron|GRM3_ENST00000394720.2_Intron|GRM3_ENST00000536043.1_Nonsense_Mutation_p.E360*	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	488					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					TCACTGGGCAGAAACCTTATC	0.468																																					GBM(52;969 1098 3139 52280)												0													85.0	77.0	80.0					7																	86468292		2203	4300	6503	SO:0001587	stop_gained	0				CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.1462G>T	7.37:g.86468292G>T	ENSP00000355316:p.Glu488*		Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Nonsense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_2,prints_GPCR_3_GABA_rcpt_B	p.E488*	ENST00000361669.2	37	c.1462	CCDS5600.1	7	.	.	.	.	.	.	.	.	.	.	G	37	6.028427	0.97216	.	.	ENSG00000198822	ENST00000361669;ENST00000546348;ENST00000536043	.	.	.	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	19.2867	0.94077	0.0:0.0:1.0:0.0	.	.	.	.	X	488;80;360	.	ENSP00000355316:E488X	E	+	1	0	GRM3	86306228	1.000000	0.71417	0.999000	0.59377	0.698000	0.40448	7.876000	0.87215	2.793000	0.96121	0.655000	0.94253	GAA	GRM3	-	superfamily_Peripla_BP_I	ENSG00000198822		0.468	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM3	HGNC	protein_coding	OTTHUMT00000253362.2		0.00	20	0	G			86468292	+1			no_errors	ENST00000361669	ensembl	human	known	74_37	nonsense	6.25	60	4	SNP	1.000	T
GSN	2934	genome.wustl.edu	37	9	124045974	124045974	+	Intron	SNP	T	T	C	rs386738236|rs78220606|rs369237356		TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr9:124045974T>C	ENST00000373823.3	+	9	896				GSN_ENST00000412819.1_Intron|GSN_ENST00000436847.1_Intron|GSN_ENST00000394353.2_Intron|RP11-477J21.6_ENST00000437135.1_RNA|GSN_ENST00000341272.2_Intron|GSN_ENST00000545652.1_5'Flank|GSN-AS1_ENST00000414544.1_RNA|GSN_ENST00000373808.2_Intron|GSN_ENST00000449733.1_Intron			P06396	GELS_HUMAN	gelsolin						actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|aging (GO:0007568)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to cadmium ion (GO:0071276)|cilium morphogenesis (GO:0060271)|oligodendrocyte development (GO:0014003)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of cell adhesion (GO:0030155)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|tissue regeneration (GO:0042246)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						cattcattcattcattcattc	0.398																																																	0																																										SO:0001627	intron_variant	0			X04412	CCDS6828.1, CCDS6829.1, CCDS48011.1, CCDS65118.1, CCDS75890.1, CCDS75891.1	9q33	2010-04-27	2010-04-27		ENSG00000148180	ENSG00000148180			4620	protein-coding gene	gene with protein product	"""amyloidosis, Finnish type"""	137350	"""gelsolin (amyloidosis, Finnish type)"""			1652889	Standard	NM_001127662		Approved	DKFZp313L0718	uc004blf.1	P06396	OTTHUMG00000020584	ENST00000373823.3:c.-10+2134T>C	9.37:g.124045974T>C			A2A418|A8MUD1|A8MYN7|B7Z373|B7Z5V1|F5H1A8|Q5T0I2|Q8WVV7	RNA	SNP	-	NULL	ENST00000373823.3	37	NULL	CCDS6829.1	9																																																																																			GSN-AS1	-	-	ENSG00000235865		0.398	GSN-013	KNOWN	basic|appris_principal|CCDS	protein_coding	GSN-AS1	HGNC	protein_coding	OTTHUMT00000254323.3	-	0.00	9	0	T	NM_000177		124045974	-1	tier1	rs78220606	no_errors	ENST00000414544	ensembl	human	known	74_37	rna	28.57	10	4	SNP	0.000	C
GUSBP1	728411	genome.wustl.edu	37	5	21459818	21459818	+	RNA	SNP	G	G	A			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr5:21459818G>A	ENST00000607545.1	+	0	61					NR_027026.1		Q15486	GUSP1_HUMAN	glucuronidase, beta pseudogene 1						carbohydrate metabolic process (GO:0005975)|nervous system development (GO:0007399)|skeletal system development (GO:0001501)		hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)										GACCGGACCCGCAGCTTGCGG	0.647											OREG0016459	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																												0			BC064850, X75940		5p14.3	2012-10-04			ENSG00000183666	ENSG00000183666			13670	pseudogene	pseudogene						8565635	Standard	NR_027026		Approved		uc010iub.3	Q15486	OTTHUMG00000162474		5.37:g.21459818G>A		748	A6NLY8|A8K1B7|Q969T8|Q9BUH2	RNA	SNP	-	NULL	ENST00000607545.1	37	NULL		5																																																																																			GUSBP1	-	-	ENSG00000183666		0.647	GUSBP1-006	KNOWN	basic	processed_transcript	GUSBP1	HGNC	pseudogene	OTTHUMT00000470546.1	-	0.00	93	0	G	NG_008324		21459818	+1	tier1	-	no_errors	ENST00000508260	ensembl	human	known	74_37	rna	24.63	255	84	SNP	0.649	A
HAND2-AS1	79804	genome.wustl.edu	37	4	174458050	174458050	+	RNA	SNP	G	G	A			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr4:174458050G>A	ENST00000504429.1	+	0	289				HAND2-AS1_ENST00000512209.2_RNA|HAND2-AS1_ENST00000515310.1_RNA|HAND2-AS1_ENST00000510339.1_RNA|HAND2-AS1_ENST00000511728.1_RNA|HAND2-AS1_ENST00000509866.1_RNA|HAND2-AS1_ENST00000504740.1_RNA|HAND2-AS1_ENST00000503309.1_RNA|HAND2-AS1_ENST00000510268.1_RNA|HAND2-AS1_ENST00000509640.1_RNA|HAND2-AS1_ENST00000508887.1_RNA|HAND2-AS1_ENST00000510221.1_RNA|HAND2-AS1_ENST00000502896.1_RNA|HAND2-AS1_ENST00000514673.1_RNA|HAND2-AS1_ENST00000507062.1_RNA|HAND2-AS1_ENST00000505817.1_RNA|HAND2-AS1_ENST00000512929.1_RNA|HAND2-AS1_ENST00000515376.1_RNA|HAND2-AS1_ENST00000503198.1_RNA|HAND2-AS1_ENST00000515350.1_RNA|HAND2-AS1_ENST00000512943.1_RNA|HAND2-AS1_ENST00000508534.1_RNA|HAND2-AS1_ENST00000507322.1_RNA|HAND2-AS1_ENST00000507636.1_RNA|HAND2-AS1_ENST00000515741.1_RNA|HAND2-AS1_ENST00000515345.1_RNA|HAND2-AS1_ENST00000507571.1_RNA|HAND2-AS1_ENST00000505621.1_RNA|HAND2-AS1_ENST00000502941.1_RNA|HAND2-AS1_ENST00000512246.1_RNA|HAND2-AS1_ENST00000503474.1_RNA|HAND2-AS1_ENST00000512099.1_RNA|HAND2-AS1_ENST00000511196.1_RNA|HAND2-AS1_ENST00000502334.1_RNA|HAND2-AS1_ENST00000514431.1_RNA					HAND2 antisense RNA 1 (head to head)																		CCTCTCCACCGCCTGGGGATC	0.478											OREG0016413	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																												0					4q34.1	2013-07-16			ENSG00000237125	ENSG00000237125		"""Long non-coding RNAs"""	48872	non-coding RNA	RNA, long non-coding	"""neuroblastoma transcript 301"", ""differentially expressed in neuroblastoma"""					18171985, 19348682	Standard	NR_003679		Approved	DEIN, NBLA00301, FLJ11539			OTTHUMG00000160783		4.37:g.174458050G>A		1916		RNA	SNP	-	NULL	ENST00000504429.1	37	NULL		4																																																																																			HAND2-AS1	-	-	ENSG00000237125		0.478	HAND2-AS1-029	KNOWN	basic|exp_conf	antisense	HAND2-AS1	HGNC	antisense	OTTHUMT00000364287.1		0.00	18	0	G			174458050	+1			no_errors	ENST00000502334	ensembl	human	known	74_37	rna	13.73	44	7	SNP	0.000	A
HLA-DQA2	3118	genome.wustl.edu	37	6	32713598	32713598	+	Missense_Mutation	SNP	T	T	C	rs138296677	byFrequency	TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr6:32713598T>C	ENST00000374940.3	+	3	464	c.362T>C	c.(361-363)tTt>tCt	p.F121S		NM_020056.4	NP_064440.1	P01906	DQA2_HUMAN	major histocompatibility complex, class II, DQ alpha 2	121	Alpha-2.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)			endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13					"""""""Insulin(DB00071)"""	TTTTCCAAGTTTCCTGTGACG	0.512													T|||	352	0.0702875	0.0961	0.0677	5008	,	,		25198	0.0873		0.0507	False		,,,				2504	0.0399																0													179.0	140.0	154.0					6																	32713598		1511	2709	4220	SO:0001583	missense	0				CCDS4753.1	6p21.3	2013-01-11			ENSG00000237541	ENSG00000237541		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4943	protein-coding gene	gene with protein product		613503		HLA-DXA			Standard	NM_020056		Approved		uc003obx.3	P01906	OTTHUMG00000031108	ENST00000374940.3:c.362T>C	6.37:g.32713598T>C	ENSP00000364076:p.Phe121Ser		A2BF37|B0V0E7|O19789|Q5SQ94|Q5SR04	Missense_Mutation	SNP	pfam_MHC_II_a_N,pfam_Ig_C1-set,pfam_CD80_C2-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_a_N,smart_Ig_C1-set,pfscan_Ig-like_dom	p.F121S	ENST00000374940.3	37	c.362	CCDS4753.1	6	.	.	.	.	.	.	.	.	.	.	.	0	-2.802170	0.00075	.	.	ENSG00000237541	ENST00000374940	T	0.00572	6.49	3.06	-0.236	0.13067	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.726686	0.12656	N	0.450006	T	0.00039	0.0001	N	0.00308	-1.67	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.24119	-1.0169	10	0.02654	T	1	.	0.5152	0.00602	0.1938:0.3561:0.1905:0.2596	.	121	P01906	DQA2_HUMAN	S	121	ENSP00000364076:F121S	ENSP00000364076:F121S	F	+	2	0	HLA-DQA2	32821576	0.000000	0.05858	0.837000	0.33122	0.054000	0.15201	0.039000	0.13884	0.145000	0.18977	-1.188000	0.01700	TTT	HLA-DQA2	-	pfscan_Ig-like_dom	ENSG00000237541		0.512	HLA-DQA2-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	HLA-DQA2	HGNC	protein_coding	OTTHUMT00000076179.2	-	0.00	36	0	T	NM_020056		32713598	+1	tier1	rs138296677	no_errors	ENST00000374940	ensembl	human	known	74_37	missense	13.68	82	13	SNP	0.252	C
HBS1L	10767	genome.wustl.edu	37	6	135303637	135303637	+	Missense_Mutation	SNP	C	C	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr6:135303637C>T	ENST00000367837.5	-	13	1762	c.1556G>A	c.(1555-1557)cGa>cAa	p.R519Q	HBS1L_ENST00000367824.4_Missense_Mutation_p.R355Q|HBS1L_ENST00000367826.2_Missense_Mutation_p.R477Q|HBS1L_ENST00000527578.1_Missense_Mutation_p.R355Q|HBS1L_ENST00000415177.2_Missense_Mutation_p.R454Q|HBS1L_ENST00000445176.2_Missense_Mutation_p.R243Q	NM_001145158.1|NM_006620.3	NP_001138630.1|NP_006611.1	Q9Y450	HBS1L_HUMAN	HBS1-like translational GTPase	519					signal transduction (GO:0007165)|translation (GO:0006412)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation elongation factor activity (GO:0003746)			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	20	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)		TGCCAGTAGTCGGTCACCAGT	0.378																																																	0													121.0	113.0	116.0					6																	135303637		2203	4300	6503	SO:0001583	missense	0			U87791	CCDS5173.1, CCDS47479.1, CCDS47480.1	6q23.3	2014-04-30	2014-04-30		ENSG00000112339	ENSG00000112339			4834	protein-coding gene	gene with protein product	"""eRF3 family member"""	612450	"""HBS1 (S. cerevisiae)-like"", ""HBS1-like (S. cerevisiae)"""			9872408, 23667253	Standard	NM_006620		Approved	ERFS, HBS1, HSPC276, KIAA1038, DKFZp434g247, EF-1a, eRF3c	uc003qez.2	Q9Y450	OTTHUMG00000015626	ENST00000367837.5:c.1556G>A	6.37:g.135303637C>T	ENSP00000356811:p.Arg519Gln		B7Z365|Q4VX89|Q4VX90|Q5T7G3|Q8NDW9|Q9UPW3	Missense_Mutation	SNP	pfam_HBS1-like_N,pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_B-barrel,prints_EF_GTP-bd_dom	p.R519Q	ENST00000367837.5	37	c.1556	CCDS5173.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.351304|5.351304	0.95830|0.95830	.|.	.|.	ENSG00000112339|ENSG00000112339	ENST00000529169|ENST00000367837;ENST00000527578;ENST00000415177;ENST00000367826;ENST00000367824;ENST00000533274;ENST00000445176	.|T;T;T;T;T;T;T	.|0.62788	.|-0.0;-0.0;-0.0;-0.0;-0.0;-0.0;-0.0	5.76|5.76	5.76|5.76	0.90799|0.90799	.|Translation elongation factor EFTu/EF1A, domain 2 (1);Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	.|0.052967	.|0.85682	.|D	.|0.000000	T|T	0.45034|0.45034	0.1322|0.1322	N|N	0.02973|0.02973	-0.45|-0.45	0.52501|0.52501	D|D	0.999951|0.999951	.|D;D	.|0.69078	.|0.997;0.996	.|P;P	.|0.56563	.|0.7;0.801	T|T	0.58211|0.58211	-0.7676|-0.7676	5|10	.|0.36615	.|T	.|0.2	-9.1136|-9.1136	19.9601|19.9601	0.97247|0.97247	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	rs35375007|rs35375007	.|477;519	.|Q9Y450-4;Q9Y450	.|.;HBS1L_HUMAN	N|Q	143|519;355;454;477;355;389;243	.|ENSP00000356811:R519Q;ENSP00000436256:R355Q;ENSP00000389826:R454Q;ENSP00000356800:R477Q;ENSP00000356798:R355Q;ENSP00000434533:R389Q;ENSP00000415305:R243Q	.|ENSP00000356798:R355Q	D|R	-|-	1|2	0|0	HBS1L|HBS1L	135345330|135345330	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.971000|0.971000	0.66376|0.66376	3.817000|3.817000	0.55668|0.55668	2.720000|2.720000	0.93068|0.93068	0.655000|0.655000	0.94253|0.94253	GAC|CGA	HBS1L	-	pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_B-barrel	ENSG00000112339		0.378	HBS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HBS1L	HGNC	protein_coding	OTTHUMT00000042339.2	-	0.00	15	0	C			135303637	-1	tier1	-	no_errors	ENST00000367837	ensembl	human	known	74_37	missense	23.26	33	10	SNP	1.000	T
HTR1D	3352	genome.wustl.edu	37	1	23519770	23519770	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr1:23519770G>T	ENST00000374619.1	-	1	1452	c.943C>A	c.(943-945)Ctg>Atg	p.L315M	HTR1D_ENST00000314113.3_Missense_Mutation_p.L315M	NM_000864.4	NP_000855.1	P28221	5HT1D_HUMAN	5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled	315	Agonist binding. {ECO:0000250}.				adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|intestine smooth muscle contraction (GO:0014827)|regulation of behavior (GO:0050795)|regulation of locomotion (GO:0040012)|response to toxic substance (GO:0009636)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Amitriptyline(DB00321)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Clozapine(DB00363)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Naratriptan(DB00952)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Risperidone(DB00734)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Sumatriptan(DB00669)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	AAGAAGGGCAGCCAGCAGATG	0.547																																																	0													126.0	120.0	122.0					1																	23519770		2203	4300	6503	SO:0001583	missense	0			M89955	CCDS231.1	1p36.3-p34.3	2012-08-08	2012-02-03		ENSG00000179546	ENSG00000179546		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5289	protein-coding gene	gene with protein product		182133	"""5-hydroxytryptamine (serotonin) receptor 1D"""	HTRL		2541503, 1662665	Standard	NM_000864		Approved	RDC4, HT1DA, 5-HT1D	uc001bgn.3	P28221	OTTHUMG00000003235	ENST00000374619.1:c.943C>A	1.37:g.23519770G>T	ENSP00000363748:p.Leu315Met			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_5HT1D_rcpt,prints_5HT_rcpt	p.L315M	ENST00000374619.1	37	c.943	CCDS231.1	1	.	.	.	.	.	.	.	.	.	.	G	14.21	2.466954	0.43839	.	.	ENSG00000179546	ENST00000314113;ENST00000374619	T;T	0.76060	-0.99;-0.99	5.34	2.39	0.29439	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000001	D	0.86134	0.5860	M	0.87758	2.905	0.46478	D	0.999061	D	0.89917	1.0	D	0.97110	1.0	D	0.85457	0.1164	10	0.87932	D	0	.	11.3104	0.49360	0.2643:0.0:0.7357:0.0	.	315	P28221	5HT1D_HUMAN	M	315	ENSP00000313661:L315M;ENSP00000363748:L315M	ENSP00000313661:L315M	L	-	1	2	HTR1D	23392357	1.000000	0.71417	0.998000	0.56505	0.857000	0.48899	3.066000	0.50002	0.007000	0.14760	-1.761000	0.00669	CTG	HTR1D	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000179546		0.547	HTR1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR1D	HGNC	protein_coding	OTTHUMT00000008924.1	-	0.00	19	0	G	NM_000864		23519770	-1	tier1	-	no_errors	ENST00000314113	ensembl	human	known	74_37	missense	33.33	32	16	SNP	1.000	T
HTRA2	27429	genome.wustl.edu	37	2	74759031	74759031	+	Missense_Mutation	SNP	T	T	A			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr2:74759031T>A	ENST00000258080.3	+	6	1724	c.1094T>A	c.(1093-1095)aTg>aAg	p.M365K	HTRA2_ENST00000467961.1_3'UTR|AUP1_ENST00000377526.3_5'Flank|HTRA2_ENST00000352222.3_Missense_Mutation_p.M300K	NM_013247.4	NP_037379.1	O43464	HTRA2_HUMAN	HtrA serine peptidase 2	365	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				adult walking behavior (GO:0007628)|cellular protein catabolic process (GO:0044257)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to interferon-beta (GO:0035458)|cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|ceramide metabolic process (GO:0006672)|execution phase of apoptosis (GO:0097194)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitochondrion organization (GO:0007005)|negative regulation of cell cycle (GO:0045786)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|neuron development (GO:0048666)|pentacyclic triterpenoid metabolic process (GO:0019742)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell death (GO:0010942)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001269)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|regulation of mitochondrion degradation (GO:1903146)|regulation of multicellular organism growth (GO:0040014)|response to herbicide (GO:0009635)	CD40 receptor complex (GO:0035631)|chromatin (GO:0000785)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)|unfolded protein binding (GO:0051082)			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12						ATTGGGGTGATGATGCTGACC	0.537																																																	0													74.0	70.0	71.0					2																	74759031		2203	4300	6503	SO:0001583	missense	0				CCDS1951.1, CCDS1952.1	2p13.1	2011-07-21	2005-08-19	2005-08-19	ENSG00000115317	ENSG00000115317		"""Serine peptidases / Serine peptidases"", ""Parkinson disease"""	14348	protein-coding gene	gene with protein product		606441	"""protease, serine, 25"""	PRSS25		10644717, 10971580	Standard	XM_005264266		Approved	OMI, PARK13	uc002smi.1	O43464	OTTHUMG00000129957	ENST00000258080.3:c.1094T>A	2.37:g.74759031T>A	ENSP00000258080:p.Met365Lys		Q9HBZ4|Q9P0Y3|Q9P0Y4	Missense_Mutation	SNP	pfam_Peptidase_S1,pfam_PDZ,superfamily_Trypsin-like_Pept_dom,superfamily_PDZ,smart_PDZ,pfscan_PDZ,prints_Peptidase_S1C	p.M365K	ENST00000258080.3	37	c.1094	CCDS1951.1	2	.	.	.	.	.	.	.	.	.	.	T	15.33	2.800813	0.50315	.	.	ENSG00000115317	ENST00000258080;ENST00000352222;ENST00000437202	T;T;T	0.13307	2.6;2.6;2.6	4.87	4.87	0.63330	PDZ/DHR/GLGF (2);	0.000000	0.85682	D	0.000000	T	0.12178	0.0296	N	0.01874	-0.695	0.58432	D	0.999999	D;D;D;D	0.76494	0.987;0.984;0.999;0.987	P;P;D;P	0.80764	0.9;0.839;0.994;0.9	T	0.45264	-0.9273	10	0.13108	T	0.6	-21.9642	12.5215	0.56062	0.0:0.0:0.0:1.0	.	365;375;300;365	A8K7G2;O43464-3;O43464-2;O43464	.;.;.;HTRA2_HUMAN	K	365;300;362	ENSP00000258080:M365K;ENSP00000312893:M300K;ENSP00000399166:M362K	ENSP00000258080:M365K	M	+	2	0	HTRA2	74612539	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.788000	0.69020	2.045000	0.60652	0.456000	0.33151	ATG	HTRA2	-	superfamily_PDZ,smart_PDZ	ENSG00000115317		0.537	HTRA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTRA2	HGNC	protein_coding	OTTHUMT00000252219.2		0.00	13	0	T	NM_013247		74759031	+1			no_errors	ENST00000258080	ensembl	human	known	74_37	missense	14.81	23	4	SNP	1.000	A
IL2RA	3559	genome.wustl.edu	37	10	6063544	6063544	+	Silent	SNP	G	G	A			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr10:6063544G>A	ENST00000379959.3	-	4	653	c.480C>T	c.(478-480)caC>caT	p.H160H	IL2RA_ENST00000379954.1_Intron|IL2RA_ENST00000256876.6_Silent_p.H160H	NM_000417.2	NP_000408.1	P01589	IL2RA_HUMAN	interleukin 2 receptor, alpha	160	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				activation-induced cell death of T cells (GO:0006924)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-2-mediated signaling pathway (GO:0038110)|negative regulation of defense response to virus (GO:0050687)|negative regulation of immune response (GO:0050777)|negative regulation of inflammatory response (GO:0050728)|negative regulation of T cell proliferation (GO:0042130)|Notch signaling pathway (GO:0007219)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of T cell differentiation (GO:0045582)|regulation of T cell homeostatic proliferation (GO:0046013)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|interleukin-2 receptor activity (GO:0004911)			endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	CAGGACCTCTGTGTAGAGCCC	0.512																																																	0													187.0	167.0	173.0					10																	6063544		2203	4300	6503	SO:0001819	synonymous_variant	0			X01057	CCDS7076.1	10p15-p14	2014-09-17			ENSG00000134460	ENSG00000134460		"""Interleukins and interleukin receptors"", ""CD molecules"""	6008	protein-coding gene	gene with protein product		147730	"""insulin-dependent diabetes mellitus 10"""	IL2R, IDDM10		3925551, 17676041	Standard	NM_000417		Approved	CD25	uc001iiz.2	P01589	OTTHUMG00000017616	ENST00000379959.3:c.480C>T	10.37:g.6063544G>A			Q5W007	Silent	SNP	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.H160	ENST00000379959.3	37	c.480	CCDS7076.1	10																																																																																			IL2RA	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000134460		0.512	IL2RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL2RA	HGNC	protein_coding	OTTHUMT00000046627.1	-	0.00	33	0	G	NM_000417		6063544	-1	tier1	-	no_errors	ENST00000379959	ensembl	human	known	74_37	silent	25.00	39	13	SNP	0.000	A
IL2RA	3559	genome.wustl.edu	37	10	6066312	6066312	+	Missense_Mutation	SNP	G	G	C			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr10:6066312G>C	ENST00000379959.3	-	3	435	c.262C>G	c.(262-264)Cgg>Ggg	p.R88G	IL2RA_ENST00000379954.1_Missense_Mutation_p.R88G|RP11-536K7.5_ENST00000440436.1_RNA|IL2RA_ENST00000256876.6_Missense_Mutation_p.R88G	NM_000417.2	NP_000408.1	P01589	IL2RA_HUMAN	interleukin 2 receptor, alpha	88					activation-induced cell death of T cells (GO:0006924)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-2-mediated signaling pathway (GO:0038110)|negative regulation of defense response to virus (GO:0050687)|negative regulation of immune response (GO:0050777)|negative regulation of inflammatory response (GO:0050728)|negative regulation of T cell proliferation (GO:0042130)|Notch signaling pathway (GO:0007219)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of T cell differentiation (GO:0045582)|regulation of T cell homeostatic proliferation (GO:0046013)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|interleukin-2 receptor activity (GO:0004911)			endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	GTTGTGTTCCGAGTGGCTAGA	0.418																																																	0													211.0	168.0	183.0					10																	6066312		2203	4300	6503	SO:0001583	missense	0			X01057	CCDS7076.1	10p15-p14	2014-09-17			ENSG00000134460	ENSG00000134460		"""Interleukins and interleukin receptors"", ""CD molecules"""	6008	protein-coding gene	gene with protein product		147730	"""insulin-dependent diabetes mellitus 10"""	IL2R, IDDM10		3925551, 17676041	Standard	NM_000417		Approved	CD25	uc001iiz.2	P01589	OTTHUMG00000017616	ENST00000379959.3:c.262C>G	10.37:g.6066312G>C	ENSP00000369293:p.Arg88Gly		Q5W007	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.R88G	ENST00000379959.3	37	c.262	CCDS7076.1	10	.	.	.	.	.	.	.	.	.	.	G	10.22	1.291339	0.23564	.	.	ENSG00000134460	ENST00000379959;ENST00000397240;ENST00000379954;ENST00000256876	T;T;T	0.47177	1.4;0.85;1.39	3.81	-6.59	0.01830	.	2.429920	0.01270	N	0.009427	T	0.33323	0.0859	L	0.47716	1.5	0.09310	N	1	B;P;P	0.46784	0.007;0.884;0.713	B;B;B	0.38954	0.004;0.286;0.069	T	0.45234	-0.9275	10	0.37606	T	0.19	-18.273	2.4664	0.04554	0.1323:0.3813:0.279:0.2074	.	88;74;88	Q5W005;E9PF94;P01589	.;.;IL2RA_HUMAN	G	88;74;88;88	ENSP00000369293:R88G;ENSP00000369287:R88G;ENSP00000256876:R88G	ENSP00000256876:R88G	R	-	1	2	IL2RA	6106318	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.850000	0.01670	-1.441000	0.01958	-0.704000	0.03662	CGG	IL2RA	-	NULL	ENSG00000134460		0.418	IL2RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL2RA	HGNC	protein_coding	OTTHUMT00000046627.1	-	0.00	12	0	G	NM_000417		6066312	-1	tier1	-	no_errors	ENST00000379959	ensembl	human	known	74_37	missense	17.17	82	17	SNP	0.000	C
IL3	3562	genome.wustl.edu	37	5	131396415	131396415	+	Missense_Mutation	SNP	G	G	A	rs370114748		TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr5:131396415G>A	ENST00000296870.2	+	1	194	c.16G>A	c.(16-18)Gtc>Atc	p.V6I		NM_000588.3	NP_000579.2	P08700	IL3_HUMAN	interleukin 3	6					cell-cell signaling (GO:0007267)|embryonic hemopoiesis (GO:0035162)|immune response (GO:0006955)|nervous system development (GO:0007399)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	interleukin-3 receptor binding (GO:0005135)			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)	10		all_cancers(142;7.42e-12)|Lung NSC(810;4.25e-07)|all_lung(232;1.93e-06)|Prostate(281;0.00741)|Breast(839;0.0544)|Lung SC(612;0.122)|Ovarian(839;0.223)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	GBM - Glioblastoma multiforme(465;0.0161)|Lung(113;0.105)	Amlexanox(DB01025)	CCGCCTGCCCGTCCTGCTCCT	0.577													G|||	1	0.000199681	0.0	0.0	5008	,	,		18346	0.001		0.0	False		,,,				2504	0.0																0													96.0	88.0	91.0					5																	131396415		2203	4300	6503	SO:0001583	missense	0			M14743	CCDS4149.1	5q23-q31	2014-04-04	2014-04-04		ENSG00000164399	ENSG00000164399		"""Interleukins and interleukin receptors"""	6011	protein-coding gene	gene with protein product	"""multilineage-colony-stimulating factor"", ""hematopoietic growth factor"", ""P-cell stimulating factor"", ""mast-cell growth factor"", ""colony-stimulating factor, multiple"""	147740	"""interleukin 3 (colony-stimulating factor, multiple)"""			3489530	Standard	NM_000588		Approved	IL-3, MULTI-CSF, MCGF, MGC79398, MGC79399	uc003kwe.1	P08700	OTTHUMG00000059640	ENST00000296870.2:c.16G>A	5.37:g.131396415G>A	ENSP00000296870:p.Val6Ile		Q6GS87	Missense_Mutation	SNP	pfam_IL-3,superfamily_4_helix_cytokine-like_core,pirsf_IL-3,prints_IL-3	p.V6I	ENST00000296870.2	37	c.16	CCDS4149.1	5	.	.	.	.	.	.	.	.	.	.	G	1.486	-0.555980	0.03967	.	.	ENSG00000164399	ENST00000296870	T	0.19105	2.17	4.68	-5.56	0.02529	.	2.098050	0.01730	N	0.028797	T	0.07369	0.0186	N	0.02247	-0.625	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.32268	-0.9913	10	0.09338	T	0.73	-2.5634	8.4264	0.32731	0.3035:0.1452:0.5514:0.0	.	6	P08700	IL3_HUMAN	I	6	ENSP00000296870:V6I	ENSP00000296870:V6I	V	+	1	0	IL3	131424314	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.088000	0.03379	-0.966000	0.03587	-1.799000	0.00621	GTC	IL3	-	pirsf_IL-3	ENSG00000164399		0.577	IL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL3	HGNC	protein_coding	OTTHUMT00000132639.1	-	0.00	13	0	G	NM_000588		131396415	+1	tier1	-	no_errors	ENST00000296870	ensembl	human	known	74_37	missense	41.38	17	12	SNP	0.000	A
IL3	3562	genome.wustl.edu	37	5	131398459	131398459	+	Missense_Mutation	SNP	C	C	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr5:131398459C>T	ENST00000296870.2	+	5	612	c.434C>T	c.(433-435)aCg>aTg	p.T145M		NM_000588.3	NP_000579.2	P08700	IL3_HUMAN	interleukin 3	145					cell-cell signaling (GO:0007267)|embryonic hemopoiesis (GO:0035162)|immune response (GO:0006955)|nervous system development (GO:0007399)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	interleukin-3 receptor binding (GO:0005135)			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)	10		all_cancers(142;7.42e-12)|Lung NSC(810;4.25e-07)|all_lung(232;1.93e-06)|Prostate(281;0.00741)|Breast(839;0.0544)|Lung SC(612;0.122)|Ovarian(839;0.223)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	GBM - Glioblastoma multiforme(465;0.0161)|Lung(113;0.105)	Amlexanox(DB01025)	GCTCAACAGACGACTTTGAGC	0.498											OREG0016762	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													87.0	88.0	88.0					5																	131398459		2203	4300	6503	SO:0001583	missense	0			M14743	CCDS4149.1	5q23-q31	2014-04-04	2014-04-04		ENSG00000164399	ENSG00000164399		"""Interleukins and interleukin receptors"""	6011	protein-coding gene	gene with protein product	"""multilineage-colony-stimulating factor"", ""hematopoietic growth factor"", ""P-cell stimulating factor"", ""mast-cell growth factor"", ""colony-stimulating factor, multiple"""	147740	"""interleukin 3 (colony-stimulating factor, multiple)"""			3489530	Standard	NM_000588		Approved	IL-3, MULTI-CSF, MCGF, MGC79398, MGC79399	uc003kwe.1	P08700	OTTHUMG00000059640	ENST00000296870.2:c.434C>T	5.37:g.131398459C>T	ENSP00000296870:p.Thr145Met	1587	Q6GS87	Missense_Mutation	SNP	pfam_IL-3,superfamily_4_helix_cytokine-like_core,pirsf_IL-3,prints_IL-3	p.T145M	ENST00000296870.2	37	c.434	CCDS4149.1	5	.	.	.	.	.	.	.	.	.	.	C	1.231	-0.624094	0.03636	.	.	ENSG00000164399	ENST00000296870	T	0.22539	1.95	3.86	-7.71	0.01254	.	4.722950	0.00357	N	0.000033	T	0.08802	0.0218	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18555	-1.0333	10	0.27785	T	0.31	.	3.489	0.07630	0.1217:0.4377:0.1026:0.338	.	145	P08700	IL3_HUMAN	M	145	ENSP00000296870:T145M	ENSP00000296870:T145M	T	+	2	0	IL3	131426358	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.812000	0.04496	-3.436000	0.00163	-3.847000	0.00018	ACG	IL3	-	pirsf_IL-3	ENSG00000164399		0.498	IL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL3	HGNC	protein_coding	OTTHUMT00000132639.1	-	0.00	13	0	C	NM_000588		131398459	+1	tier1	-	no_errors	ENST00000296870	ensembl	human	known	74_37	missense	23.33	23	7	SNP	0.000	T
IMPDH1	3614	genome.wustl.edu	37	7	128034542	128034542	+	Silent	SNP	C	C	T	rs139785999		TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr7:128034542C>T	ENST00000480861.1	-	12	1469	c.1392G>A	c.(1390-1392)caG>caA	p.Q464Q	IMPDH1_ENST00000338791.6_Silent_p.Q554Q|IMPDH1_ENST00000348127.6_Silent_p.Q518Q|IMPDH1_ENST00000378717.4_Silent_p.Q485Q|IMPDH1_ENST00000470772.1_Silent_p.Q468Q|IMPDH1_ENST00000419067.2_Silent_p.Q521Q|IMPDH1_ENST00000496200.1_Silent_p.Q444Q|IMPDH1_ENST00000343214.4_Silent_p.Q444Q|IMPDH1_ENST00000354269.5_Silent_p.Q544Q	NM_001142574.1	NP_001136046.1			IMP (inosine 5'-monophosphate) dehydrogenase 1											breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)	22						CCCCGATATCCTGGCAGCCGT	0.597																																																	0								C	,,,,,,	1,4405	2.1+/-5.4	0,1,2202	71.0	70.0	71.0		1662,1632,1407,1392,1332,1563,1554	4.3	1.0	7	dbSNP_134	71	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	IMPDH1	NM_000883.3,NM_001102605.1,NM_001142573.1,NM_001142574.1,NM_001142575.1,NM_001142576.1,NM_183243.2	,,,,,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,,,,,	554/600,544/590,469/515,464/510,444/490,521/567,518/564	128034542	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS34748.1, CCDS34749.1, CCDS43643.1, CCDS47699.1, CCDS47700.1, CCDS55161.1	7q31.3-q32	2013-01-08	2010-04-29		ENSG00000106348	ENSG00000106348	1.1.1.205		6052	protein-coding gene	gene with protein product		146690	"""retinitis pigmentosa 10 (autosomal dominant)"", ""IMP (inosine monophosphate) dehydrogenase 1"""	RP10		1969416, 11875049, 11875050	Standard	NM_000883		Approved	sWSS2608, LCA11	uc003vmu.2	P20839	OTTHUMG00000157713	ENST00000480861.1:c.1392G>A	7.37:g.128034542C>T				Silent	SNP	pfam_IMP_DH_GMPRt,pfam_CBS_dom,pfam_2Npropane_dOase,pfam_FMN-dep_DH,smart_CBS_dom,tigrfam_IMP_DH	p.Q554	ENST00000480861.1	37	c.1662	CCDS55161.1	7																																																																																			IMPDH1	-	pfam_IMP_DH_GMPRt,tigrfam_IMP_DH	ENSG00000106348		0.597	IMPDH1-009	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	IMPDH1	HGNC	protein_coding	OTTHUMT00000349462.1	-	0.00	41	0	C	NM_000883		128034542	-1	tier1	rs139785999	no_errors	ENST00000338791	ensembl	human	known	74_37	silent	22.97	57	17	SNP	1.000	T
IMPDH1	3614	genome.wustl.edu	37	7	128036730	128036730	+	Silent	SNP	G	G	A			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr7:128036730G>A	ENST00000480861.1	-	9	992	c.915C>T	c.(913-915)gcC>gcT	p.A305A	IMPDH1_ENST00000338791.6_Silent_p.A395A|IMPDH1_ENST00000348127.6_Silent_p.A359A|IMPDH1_ENST00000378717.4_Silent_p.A326A|IMPDH1_ENST00000470772.1_Silent_p.A309A|IMPDH1_ENST00000419067.2_Silent_p.A362A|IMPDH1_ENST00000496200.1_Silent_p.A285A|IMPDH1_ENST00000343214.4_Silent_p.A285A|IMPDH1_ENST00000354269.5_Silent_p.A385A	NM_001142574.1	NP_001136046.1			IMP (inosine 5'-monophosphate) dehydrogenase 1											breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)	22						TCAGGTTCTTGGCCTGGGCTG	0.637																																																	0													19.0	15.0	17.0					7																	128036730		2159	4242	6401	SO:0001819	synonymous_variant	0				CCDS34748.1, CCDS34749.1, CCDS43643.1, CCDS47699.1, CCDS47700.1, CCDS55161.1	7q31.3-q32	2013-01-08	2010-04-29		ENSG00000106348	ENSG00000106348	1.1.1.205		6052	protein-coding gene	gene with protein product		146690	"""retinitis pigmentosa 10 (autosomal dominant)"", ""IMP (inosine monophosphate) dehydrogenase 1"""	RP10		1969416, 11875049, 11875050	Standard	NM_000883		Approved	sWSS2608, LCA11	uc003vmu.2	P20839	OTTHUMG00000157713	ENST00000480861.1:c.915C>T	7.37:g.128036730G>A				Silent	SNP	pfam_IMP_DH_GMPRt,pfam_CBS_dom,pfam_2Npropane_dOase,pfam_FMN-dep_DH,smart_CBS_dom,tigrfam_IMP_DH	p.A395	ENST00000480861.1	37	c.1185	CCDS55161.1	7																																																																																			IMPDH1	-	pfam_IMP_DH_GMPRt,pfam_2Npropane_dOase,pfam_FMN-dep_DH,tigrfam_IMP_DH	ENSG00000106348		0.637	IMPDH1-009	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	IMPDH1	HGNC	protein_coding	OTTHUMT00000349462.1	-	0.00	22	0	G	NM_000883		128036730	-1	tier1	-	no_errors	ENST00000338791	ensembl	human	known	74_37	silent	13.33	51	8	SNP	1.000	A
IMPG2	50939	genome.wustl.edu	37	3	100949844	100949844	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr3:100949844G>T	ENST00000193391.7	-	16	3566	c.3379C>A	c.(3379-3381)Ctc>Atc	p.L1127I		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	1127	Hyaluronan-binding motif involved in chondroitin sulfate A- and C-binding. {ECO:0000250}.				visual perception (GO:0007601)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)|receptor complex (GO:0043235)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64					Hyaluronan(DB08818)	TGTGCTTGGAGAGTCCTGATG	0.418																																																	0													159.0	153.0	155.0					3																	100949844		2203	4300	6503	SO:0001583	missense	0			AF173155	CCDS2940.1	3q12.2-q12.3	2014-01-28			ENSG00000081148	ENSG00000081148			18362	protein-coding gene	gene with protein product		607056				10542133	Standard	NM_016247		Approved	IPM200, RP56	uc003duq.2	Q9BZV3	OTTHUMG00000159091	ENST00000193391.7:c.3379C>A	3.37:g.100949844G>T	ENSP00000193391:p.Leu1127Ile		A8MWT5|Q9UKD4|Q9UKK5	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom	p.L1127I	ENST00000193391.7	37	c.3379	CCDS2940.1	3	.	.	.	.	.	.	.	.	.	.	G	9.499	1.102822	0.20632	.	.	ENSG00000081148	ENST00000193391	T	0.29397	1.57	5.92	0.878	0.19150	.	0.474047	0.21106	N	0.080071	T	0.30696	0.0773	M	0.71581	2.175	0.27329	N	0.956834	P;P	0.38420	0.63;0.63	B;B	0.36186	0.219;0.219	T	0.16276	-1.0408	10	0.62326	D	0.03	-1.2937	10.6567	0.45680	0.3158:0.0:0.6842:0.0	.	1127;1127	F1T0J3;Q9BZV3	.;IMPG2_HUMAN	I	1127	ENSP00000193391:L1127I	ENSP00000193391:L1127I	L	-	1	0	IMPG2	102432534	0.997000	0.39634	0.004000	0.12327	0.003000	0.03518	2.117000	0.41939	-0.119000	0.11830	-0.302000	0.09304	CTC	IMPG2	-	NULL	ENSG00000081148		0.418	IMPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IMPG2	HGNC	protein_coding	OTTHUMT00000353256.3		0.00	14	0	G			100949844	-1			no_errors	ENST00000193391	ensembl	human	known	74_37	missense	5.19	73	4	SNP	0.457	T
INADL	10207	genome.wustl.edu	37	1	62240965	62240965	+	Missense_Mutation	SNP	G	G	A			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr1:62240965G>A	ENST00000371158.2	+	7	922	c.808G>A	c.(808-810)Gtg>Atg	p.V270M	INADL_ENST00000316485.6_Missense_Mutation_p.V270M	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	270	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						AACAAGTGGCGTGGTTGTGAG	0.383																																																	0													266.0	257.0	260.0					1																	62240965		2203	4300	6503	SO:0001583	missense	0			AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.808G>A	1.37:g.62240965G>A	ENSP00000360200:p.Val270Met		O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Missense_Mutation	SNP	pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_L27,smart_PDZ,pfscan_L27,pfscan_PDZ	p.V270M	ENST00000371158.2	37	c.808	CCDS617.2	1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.974298	0.74246	.	.	ENSG00000132849	ENST00000371158;ENST00000316485;ENST00000371156;ENST00000395513;ENST00000255202	T;T	0.32023	1.47;1.47	5.4	5.4	0.78164	PDZ/DHR/GLGF (4);	0.081857	0.48286	D	0.000196	T	0.66056	0.2751	M	0.91920	3.255	0.80722	D	1	D;D;D	0.89917	0.994;1.0;0.998	P;D;P	0.91635	0.801;0.999;0.907	T	0.73232	-0.4048	10	0.56958	D	0.05	.	19.1768	0.93605	0.0:0.0:1.0:0.0	.	270;270;270	F8W8T2;Q8NI35;Q8NI35-4	.;INADL_HUMAN;.	M	270	ENSP00000360200:V270M;ENSP00000326199:V270M	ENSP00000255202:V270M	V	+	1	0	INADL	62013553	1.000000	0.71417	0.999000	0.59377	0.953000	0.61014	7.349000	0.79376	2.531000	0.85337	0.655000	0.94253	GTG	INADL	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000132849		0.383	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INADL	HGNC	protein_coding	OTTHUMT00000023639.2	-	0.00	27	0	G	NM_170605		62240965	+1	tier1	-	no_errors	ENST00000371158	ensembl	human	known	74_37	missense	45.00	55	45	SNP	0.999	A
INPP5E	56623	genome.wustl.edu	37	9	139324152	139324152	+	Missense_Mutation	SNP	G	G	A			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr9:139324152G>A	ENST00000371712.3	-	10	2312	c.1910C>T	c.(1909-1911)tCc>tTc	p.S637F		NM_019892.4	NP_063945.2	Q10713	MPPA_HUMAN	inositol polyphosphate-5-phosphatase, 72 kDa	0					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|endometrium(1)|lung(4)|skin(3)	9		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05)		GATGGTGCTGGAGTTCTGACT	0.458																																																	0													255.0	237.0	243.0					9																	139324152		2203	4300	6503	SO:0001583	missense	0			AF187891	CCDS7000.1	9q34.3	2011-02-11			ENSG00000148384	ENSG00000148384			21474	protein-coding gene	gene with protein product		613037	"""Joubert syndrome 1"""	JBTS1		10764818, 10577920, 19668216	Standard	NM_019892		Approved	PPI5PIV, CORS1	uc004cho.3	Q9NRR6	OTTHUMG00000020927	ENST00000371712.3:c.1910C>T	9.37:g.139324152G>A	ENSP00000360777:p.Ser637Phe		B4DKL3|E7ET61|Q16639|Q5SXM9|Q8N513	Missense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc	p.S637F	ENST00000371712.3	37	c.1910	CCDS7000.1	9	.	.	.	.	.	.	.	.	.	.	G	11.91	1.779003	0.31502	.	.	ENSG00000148384	ENST00000371712	D	0.97976	-4.64	5.54	5.54	0.83059	.	0.465165	0.23132	N	0.051569	D	0.96685	0.8918	L	0.56769	1.78	0.44175	D	0.99698	P;P	0.47106	0.834;0.89	B;B	0.43018	0.324;0.405	D	0.97231	0.9884	10	0.72032	D	0.01	-24.8543	16.6228	0.84934	0.0:0.0:1.0:0.0	.	603;637	Q9NRR6-2;Q9NRR6	.;INP5E_HUMAN	F	637	ENSP00000360777:S637F	ENSP00000360777:S637F	S	-	2	0	INPP5E	138443973	1.000000	0.71417	0.420000	0.26596	0.103000	0.19146	2.639000	0.46570	2.599000	0.87857	0.651000	0.88453	TCC	INPP5E	-	NULL	ENSG00000148384		0.458	INPP5E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INPP5E	HGNC	protein_coding	OTTHUMT00000055058.1		0.00	15	0	G	NM_019892		139324152	-1			no_errors	ENST00000371712	ensembl	human	known	74_37	missense	8.51	43	4	SNP	0.971	A
INPP5E	56623	genome.wustl.edu	37	9	139324165	139324165	+	Nonsense_Mutation	SNP	G	G	A			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr9:139324165G>A	ENST00000371712.3	-	10	2299	c.1897C>T	c.(1897-1899)Cag>Tag	p.Q633*		NM_019892.4	NP_063945.2	Q10713	MPPA_HUMAN	inositol polyphosphate-5-phosphatase, 72 kDa	0					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|endometrium(1)|lung(4)|skin(3)	9		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05)		TTCTGACTCTGTAGTGCTTGC	0.468																																																	0													245.0	229.0	235.0					9																	139324165		2203	4300	6503	SO:0001587	stop_gained	0			AF187891	CCDS7000.1	9q34.3	2011-02-11			ENSG00000148384	ENSG00000148384			21474	protein-coding gene	gene with protein product		613037	"""Joubert syndrome 1"""	JBTS1		10764818, 10577920, 19668216	Standard	NM_019892		Approved	PPI5PIV, CORS1	uc004cho.3	Q9NRR6	OTTHUMG00000020927	ENST00000371712.3:c.1897C>T	9.37:g.139324165G>A	ENSP00000360777:p.Gln633*		B4DKL3|E7ET61|Q16639|Q5SXM9|Q8N513	Nonsense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc	p.Q633*	ENST00000371712.3	37	c.1897	CCDS7000.1	9	.	.	.	.	.	.	.	.	.	.	G	35	5.516611	0.96402	.	.	ENSG00000148384	ENST00000371712	.	.	.	5.27	2.85	0.33270	.	0.225164	0.43579	D	0.000559	.	.	.	.	.	.	0.46185	D	0.99891	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-22.4428	10.3018	0.43656	0.0:0.0:0.338:0.662	.	.	.	.	X	633	.	ENSP00000360777:Q633X	Q	-	1	0	INPP5E	138443986	0.992000	0.36948	0.001000	0.08648	0.005000	0.04900	2.942000	0.49018	0.292000	0.22492	-0.269000	0.10298	CAG	INPP5E	-	NULL	ENSG00000148384		0.468	INPP5E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INPP5E	HGNC	protein_coding	OTTHUMT00000055058.1		0.00	13	0	G	NM_019892		139324165	-1			no_errors	ENST00000371712	ensembl	human	known	74_37	nonsense	9.52	38	4	SNP	0.041	A
IPO13	9670	genome.wustl.edu	37	1	44422098	44422098	+	Missense_Mutation	SNP	C	C	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr1:44422098C>T	ENST00000372343.3	+	3	1590	c.928C>T	c.(928-930)Cgc>Tgc	p.R310C	IPO13_ENST00000492152.1_3'UTR	NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	310					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				TGGCATCTGTCGCATCGCTGT	0.597																																																	0													70.0	65.0	66.0					1																	44422098		2203	4300	6503	SO:0001583	missense	0			AB018267	CCDS503.1	1p34.1	2008-02-05			ENSG00000117408	ENSG00000117408		"""Importins"""	16853	protein-coding gene	gene with protein product		610411				9872452, 11447110	Standard	NM_014652		Approved	IMP13, KIAA0724, RANBP13	uc001ckx.3	O94829	OTTHUMG00000008297	ENST00000372343.3:c.928C>T	1.37:g.44422098C>T	ENSP00000361418:p.Arg310Cys		D3DPY4|Q5T4X3|Q7LC04|Q96HS3|Q9H8N3|Q9UFR1	Missense_Mutation	SNP	pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.R310C	ENST00000372343.3	37	c.928	CCDS503.1	1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.608236	0.87258	.	.	ENSG00000117408	ENST00000372343	.	.	.	5.75	5.75	0.90469	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.75539	0.3863	L	0.56769	1.78	0.80722	D	1	D	0.89917	1.0	P	0.61722	0.893	T	0.74996	-0.3473	9	0.52906	T	0.07	-13.1918	19.9442	0.97176	0.0:1.0:0.0:0.0	.	310	O94829	IPO13_HUMAN	C	310	.	ENSP00000361418:R310C	R	+	1	0	IPO13	44194685	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.770000	0.85390	2.721000	0.93114	0.511000	0.50034	CGC	IPO13	-	superfamily_ARM-type_fold	ENSG00000117408		0.597	IPO13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IPO13	HGNC	protein_coding	OTTHUMT00000022846.1	-	0.00	10	0	C	NM_014652		44422098	+1	tier1	-	no_errors	ENST00000372343	ensembl	human	known	74_37	missense	18.92	30	7	SNP	1.000	T
IPO9	55705	genome.wustl.edu	37	1	201837855	201837855	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr1:201837855G>T	ENST00000361565.4	+	16	2004	c.1935G>T	c.(1933-1935)atG>atT	p.M645I		NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	645					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	histone binding (GO:0042393)|protein transporter activity (GO:0008565)			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						CAATGCAAATGAGGCTGATTC	0.552																																																	0													110.0	91.0	97.0					1																	201837855		2203	4300	6503	SO:0001583	missense	0			AF410465	CCDS1415.1	1q31.3	2008-02-05			ENSG00000198700	ENSG00000198700		"""Importins"""	19425	protein-coding gene	gene with protein product						11823430, 10574461	Standard	NM_018085		Approved	Imp9, FLJ10402	uc001gwz.3	Q96P70	OTTHUMG00000035805	ENST00000361565.4:c.1935G>T	1.37:g.201837855G>T	ENSP00000354742:p.Met645Ile		B1ASV5|Q8N1Y1|Q8N3I2|Q8NCG9|Q96SU6|Q9NW01|Q9P0A8|Q9ULM8	Missense_Mutation	SNP	pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.M645I	ENST00000361565.4	37	c.1935	CCDS1415.1	1	.	.	.	.	.	.	.	.	.	.	G	18.62	3.662677	0.67700	.	.	ENSG00000198700	ENST00000361565	T	0.66638	-0.22	6.17	5.27	0.74061	Armadillo-like helical (1);Armadillo-type fold (1);	0.033820	0.85682	D	0.000000	T	0.56906	0.2017	L	0.36672	1.1	0.58432	D	0.999999	B	0.22414	0.069	B	0.18263	0.021	T	0.54146	-0.8337	10	0.42905	T	0.14	-2.5914	13.4045	0.60903	0.0752:0.0:0.9248:0.0	.	645	Q96P70	IPO9_HUMAN	I	645	ENSP00000354742:M645I	ENSP00000354742:M645I	M	+	3	0	IPO9	200104478	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.531000	0.81973	1.634000	0.50500	0.655000	0.94253	ATG	IPO9	-	superfamily_ARM-type_fold	ENSG00000198700		0.552	IPO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IPO9	HGNC	protein_coding	OTTHUMT00000087088.1		0.00	12	0	G	NM_018085		201837855	+1			no_errors	ENST00000361565	ensembl	human	known	74_37	missense	6.06	31	2	SNP	1.000	T
IQUB	154865	genome.wustl.edu	37	7	123097500	123097500	+	Missense_Mutation	SNP	A	A	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr7:123097500A>T	ENST00000466202.1	-	12	2704	c.2128T>A	c.(2128-2130)Tgg>Agg	p.W710R	IQUB_ENST00000324698.6_Missense_Mutation_p.W710R|RNU6-296P_ENST00000384608.1_RNA|RP11-332K15.1_ENST00000419832.1_RNA	NM_001282855.1	NP_001269784.1	Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	710					cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	acrosomal vesicle (GO:0001669)|motile cilium (GO:0031514)				breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						ATGCAGTTCCAGGGGGACCAC	0.443																																																	0													134.0	137.0	136.0					7																	123097500		2203	4300	6503	SO:0001583	missense	0			AK093153	CCDS5787.1	7q31.32	2010-03-19			ENSG00000164675	ENSG00000164675			21995	protein-coding gene	gene with protein product							Standard	NM_178827		Approved	FLJ35834	uc003vko.3	Q8NA54	OTTHUMG00000157347	ENST00000466202.1:c.2128T>A	7.37:g.123097500A>T	ENSP00000417769:p.Trp710Arg		A4D0X0|Q49AL6|Q4G189|Q5BJD9|Q6NUH6|Q8N9Y2	Missense_Mutation	SNP	pfam_Ubiquitin_dom,pfscan_Ubiquitin_supergroup	p.W710R	ENST00000466202.1	37	c.2128	CCDS5787.1	7	.	.	.	.	.	.	.	.	.	.	A	24.4	4.527388	0.85706	.	.	ENSG00000164675	ENST00000466202;ENST00000324698	T;T	0.34667	1.35;1.35	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.65450	0.2692	M	0.86028	2.79	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.71262	-0.4645	10	0.72032	D	0.01	.	16.1922	0.82000	1.0:0.0:0.0:0.0	.	710	Q8NA54	IQUB_HUMAN	R	710	ENSP00000417769:W710R;ENSP00000324882:W710R	ENSP00000324882:W710R	W	-	1	0	IQUB	122884736	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.585000	0.90802	2.223000	0.72356	0.519000	0.50382	TGG	IQUB	-	NULL	ENSG00000164675		0.443	IQUB-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	IQUB	HGNC	protein_coding	OTTHUMT00000348529.1		0.00	11	0	A	NM_178827		123097500	-1			no_errors	ENST00000324698	ensembl	human	known	74_37	missense	8.16	45	4	SNP	1.000	T
ISM1	140862	genome.wustl.edu	37	20	13279982	13279982	+	Missense_Mutation	SNP	T	T	C			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr20:13279982T>C	ENST00000262487.4	+	6	1277	c.1271T>C	c.(1270-1272)aTt>aCt	p.I424T	TASP1_ENST00000539805.1_Intron	NM_080826.1	NP_543016.1	B1AKI9	ISM1_HUMAN	isthmin 1, angiogenesis inhibitor	424	AMOP. {ECO:0000255|PROSITE- ProRule:PRU00347}.					extracellular region (GO:0005576)				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						CTGCCCTGGATTATCTGCAAG	0.612																																																	0													36.0	42.0	40.0					20																	13279982		2093	4224	6317	SO:0001583	missense	0			AL133463	CCDS46579.1	20p12.1	2013-05-15	2013-05-15	2008-12-23	ENSG00000101230	ENSG00000101230			16213	protein-coding gene	gene with protein product		615793	"""chromosome 20 open reading frame 82"", ""isthmin 1 homolog (zebrafish)"""	C20orf82			Standard	NM_080826		Approved	bA149I18.1	uc010gce.1	B1AKI9		ENST00000262487.4:c.1271T>C	20.37:g.13279982T>C	ENSP00000262487:p.Ile424Thr		Q8WVH9	Missense_Mutation	SNP	pfam_AMOP,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_AMOP,pfscan_AMOP,pfscan_Thrombospondin_1_rpt	p.I424T	ENST00000262487.4	37	c.1271	CCDS46579.1	20	.	.	.	.	.	.	.	.	.	.	T	22.4	4.288289	0.80803	.	.	ENSG00000101230	ENST00000262487;ENST00000447521	T;T	0.54071	0.59;0.61	5.98	5.98	0.97165	AMOP (3);	0.000000	0.85682	D	0.000000	T	0.69663	0.3136	L	0.60455	1.87	0.80722	D	1	D	0.76494	0.999	D	0.72338	0.977	T	0.72171	-0.4371	10	0.87932	D	0	-6.0708	16.4496	0.83976	0.0:0.0:0.0:1.0	.	424	B1AKI9	ISM1_HUMAN	T	424;378	ENSP00000262487:I424T;ENSP00000409938:I378T	ENSP00000262487:I424T	I	+	2	0	ISM1	13227982	1.000000	0.71417	0.940000	0.37924	0.996000	0.88848	8.003000	0.88520	2.284000	0.76573	0.533000	0.62120	ATT	ISM1	-	pfam_AMOP,smart_AMOP,pfscan_AMOP	ENSG00000101230		0.612	ISM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ISM1	HGNC	protein_coding	OTTHUMT00000078039.2	-	0.00	8	0	T			13279982	+1	tier1	-	no_errors	ENST00000262487	ensembl	human	known	74_37	missense	30.95	29	13	SNP	1.000	C
ITGAV	3685	genome.wustl.edu	37	2	187532501	187532501	+	Nonsense_Mutation	SNP	G	G	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr2:187532501G>T	ENST00000261023.3	+	24	2705	c.2431G>T	c.(2431-2433)Gag>Tag	p.E811*	AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000374907.3_Nonsense_Mutation_p.E775*|ITGAV_ENST00000433736.2_Nonsense_Mutation_p.E765*	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	811					angiogenesis (GO:0001525)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|apoptotic cell clearance (GO:0043277)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|endodermal cell differentiation (GO:0035987)|entry of symbiont into host cell by promotion of host phagocytosis (GO:0052066)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|negative chemotaxis (GO:0050919)|negative regulation of entry of bacterium into host cell (GO:2000536)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast proliferation (GO:0033690)|regulation of apoptotic cell clearance (GO:2000425)|regulation of phagocytosis (GO:0050764)|substrate adhesion-dependent cell spreading (GO:0034446)|viral entry into host cell (GO:0046718)	alphav-beta3 integrin-IGF-1-IGF1R complex (GO:0035867)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin alphav-beta5 complex (GO:0034684)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	extracellular matrix binding (GO:0050840)|extracellular matrix protein binding (GO:1990430)|fibronectin binding (GO:0001968)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	Antithymocyte globulin(DB00098)	GCACATCTATGAGGTTTGCAG	0.403																																					Melanoma(58;108 1995 6081)												0													121.0	120.0	120.0					2																	187532501		2203	4300	6503	SO:0001587	stop_gained	0				CCDS2292.1, CCDS46470.1, CCDS46471.1	2q31-q32	2012-04-20	2012-04-20		ENSG00000138448	ENSG00000138448		"""CD molecules"", ""Integrins"""	6150	protein-coding gene	gene with protein product		193210	"""antigen identified by monoclonal antibody L230"", ""vitronectin receptor"", ""integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)"""	VNRA, MSK8, VTNR		2454952	Standard	NM_001144999		Approved	CD51	uc002upq.4	P06756	OTTHUMG00000132635	ENST00000261023.3:c.2431G>T	2.37:g.187532501G>T	ENSP00000261023:p.Glu811*		A0AV67|B0LPF4|B7Z883|B7ZLX0|D3DPG8|E7EWZ6|Q53SK4|Q59EB7|Q6LD15	Nonsense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.E811*	ENST00000261023.3	37	c.2431	CCDS2292.1	2	.	.	.	.	.	.	.	.	.	.	G	43	10.123358	0.99342	.	.	ENSG00000138448	ENST00000261023;ENST00000374907;ENST00000433736	.	.	.	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.4294	0.94758	0.0:0.0:1.0:0.0	.	.	.	.	X	811;775;765	.	ENSP00000261023:E811X	E	+	1	0	ITGAV	187240746	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.197000	0.77814	2.602000	0.87976	0.650000	0.86243	GAG	ITGAV	-	pfam_Integrin_alpha-2	ENSG00000138448		0.403	ITGAV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGAV	HGNC	protein_coding	OTTHUMT00000255882.2		0.00	23	0	G	NM_002210		187532501	+1			no_errors	ENST00000261023	ensembl	human	known	74_37	nonsense	5.26	72	4	SNP	1.000	T
ITGAX	3687	genome.wustl.edu	37	16	31392248	31392248	+	Missense_Mutation	SNP	C	C	G			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr16:31392248C>G	ENST00000268296.4	+	29	3428	c.3307C>G	c.(3307-3309)Cac>Gac	p.H1103D	ITGAX_ENST00000562522.1_Missense_Mutation_p.H1103D	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	1103					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|organ morphogenesis (GO:0009887)	cell surface (GO:0009986)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						GTACAAGGTCCACAACCCCAC	0.562																																																	0													141.0	102.0	115.0					16																	31392248		2197	4300	6497	SO:0001583	missense	0			BC038237	CCDS10711.1, CCDS67014.1	16p11.2	2010-03-23	2006-02-10		ENSG00000140678	ENSG00000140678		"""CD molecules"", ""Complement system"", ""Integrins"""	6152	protein-coding gene	gene with protein product		151510	"""integrin, alpha X (antigen CD11C (p150), alpha polypeptide)"""	CD11C		3284962, 2303426	Standard	NM_001286375		Approved	CD11c	uc002ebu.1	P20702	OTTHUMG00000132465	ENST00000268296.4:c.3307C>G	16.37:g.31392248C>G	ENSP00000268296:p.His1103Asp		Q8IVA6	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.H1103D	ENST00000268296.4	37	c.3307	CCDS10711.1	16	.	.	.	.	.	.	.	.	.	.	C	9.334	1.061283	0.19987	.	.	ENSG00000140678	ENST00000268296	T	0.44482	0.92	4.54	-3.51	0.04696	.	.	.	.	.	T	0.47358	0.1441	L	0.54323	1.7	0.09310	N	1	D;P	0.62365	0.991;0.955	P;P	0.53689	0.732;0.709	T	0.53450	-0.8437	9	0.66056	D	0.02	.	12.7207	0.57140	0.0:0.7566:0.0:0.2434	.	1103;288	P20702;Q8TES5	ITAX_HUMAN;.	D	1103	ENSP00000268296:H1103D	ENSP00000268296:H1103D	H	+	1	0	ITGAX	31299749	0.000000	0.05858	0.000000	0.03702	0.058000	0.15608	-0.322000	0.08007	-0.432000	0.07297	0.591000	0.81541	CAC	ITGAX	-	NULL	ENSG00000140678		0.562	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ITGAX	HGNC	protein_coding	OTTHUMT00000255628.2	-	0.00	34	0	C	NM_000887		31392248	+1	tier1	-	no_errors	ENST00000268296	ensembl	human	known	74_37	missense	14.29	54	9	SNP	0.000	G
JARID2	3720	genome.wustl.edu	37	6	15520334	15520334	+	Missense_Mutation	SNP	G	G	A			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr6:15520334G>A	ENST00000341776.2	+	18	3837	c.3593G>A	c.(3592-3594)gGc>gAc	p.G1198D	JARID2_ENST00000397311.3_Missense_Mutation_p.G1026D	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	1198					central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|liver development (GO:0001889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone methylation (GO:0031061)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K9 methylation (GO:0051574)|spleen development (GO:0048536)|stem cell differentiation (GO:0048863)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				CAGATCTGCGGCAAAGTGTCT	0.502																																																	0													78.0	69.0	72.0					6																	15520334		2203	4300	6503	SO:0001583	missense	0			U57592	CCDS4533.1, CCDS58996.1	6p24-p23	2008-02-05	2006-10-06	2004-01-30	ENSG00000008083	ENSG00000008083			6196	protein-coding gene	gene with protein product		601594	"""jumonji (mouse) homolog"", ""Jumonji, AT rich interactive domain 2"""	JMJ		8894700	Standard	NM_001267040		Approved		uc003nbj.4	Q92833	OTTHUMG00000014293	ENST00000341776.2:c.3593G>A	6.37:g.15520334G>A	ENSP00000341280:p.Gly1198Asp		A8K9Z6|B7Z5S5|B7Z8L0|Q5U5L5|Q86X63	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_TF_JmjN,pfam_Znf_C5HC2,superfamily_ARID/BRIGHT_DNA-bd,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_ARID/BRIGHT_DNA-bd	p.G1198D	ENST00000341776.2	37	c.3593	CCDS4533.1	6	.	.	.	.	.	.	.	.	.	.	G	17.59	3.428206	0.62844	.	.	ENSG00000008083	ENST00000341776;ENST00000397311	D;D	0.84660	-1.88;-1.88	5.71	5.71	0.89125	.	0.050281	0.85682	D	0.000000	D	0.84410	0.5466	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.79536	-0.1763	10	0.12430	T	0.62	-15.6657	19.8484	0.96730	0.0:0.0:1.0:0.0	.	1198	Q92833	JARD2_HUMAN	D	1198;1026	ENSP00000341280:G1198D;ENSP00000380478:G1026D	ENSP00000341280:G1198D	G	+	2	0	JARID2	15628313	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.901000	0.92560	2.684000	0.91462	0.655000	0.94253	GGC	JARID2	-	NULL	ENSG00000008083		0.502	JARID2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	JARID2	HGNC	protein_coding	OTTHUMT00000039926.1		0.00	26	0	G	NM_004973		15520334	+1			no_errors	ENST00000341776	ensembl	human	known	74_37	missense	5.56	68	4	SNP	1.000	A
KCNF1	3754	genome.wustl.edu	37	2	11052955	11052955	+	Missense_Mutation	SNP	C	C	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr2:11052955C>T	ENST00000295082.1	+	1	893	c.403C>T	c.(403-405)Cgc>Tgc	p.R135C		NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F, member 1	135					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		GAGCGAGAAGCGCGAGGAGCT	0.642																																																	0													45.0	51.0	49.0					2																	11052955		2203	4300	6503	SO:0001583	missense	0			AF033382	CCDS1676.1	2p25	2011-07-05			ENSG00000162975	ENSG00000162975		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6246	protein-coding gene	gene with protein product		603787		KCNF		9434767, 16382104	Standard	NM_002236		Approved	Kv5.1, kH1, IK8	uc002rax.3	Q9H3M0	OTTHUMG00000119054	ENST00000295082.1:c.403C>T	2.37:g.11052955C>T	ENSP00000295082:p.Arg135Cys		O43527|Q585L3	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,pfam_PKD1_2_channel,superfamily_BTB/POZ_fold,prints_K_chnl,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv6	p.R135C	ENST00000295082.1	37	c.403	CCDS1676.1	2	.	.	.	.	.	.	.	.	.	.	C	16.84	3.232824	0.58777	.	.	ENSG00000162975	ENST00000295082	D	0.94280	-3.39	5.19	4.25	0.50352	BTB/POZ-like (1);BTB/POZ fold (2);	1.168410	0.06265	N	0.694588	D	0.91425	0.7294	M	0.62723	1.935	0.42896	D	0.99421	D	0.56968	0.978	B	0.37508	0.252	D	0.88545	0.3112	10	0.87932	D	0	.	11.5203	0.50546	0.3495:0.6505:0.0:0.0	.	135	Q9H3M0	KCNF1_HUMAN	C	135	ENSP00000295082:R135C	ENSP00000295082:R135C	R	+	1	0	KCNF1	10970406	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	3.398000	0.52579	2.564000	0.86499	0.563000	0.77884	CGC	KCNF1	-	superfamily_BTB/POZ_fold	ENSG00000162975		0.642	KCNF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNF1	HGNC	protein_coding	OTTHUMT00000239265.1	-	0.00	9	0	C	NM_002236		11052955	+1	tier1	-	no_errors	ENST00000295082	ensembl	human	known	74_37	missense	32.00	17	8	SNP	1.000	T
KDM2A	22992	genome.wustl.edu	37	11	67024302	67024303	+	3'UTR	INS	-	-	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr11:67024302_67024303insT	ENST00000529006.2	+	0	5711_5712				KDM2A_ENST00000398645.2_3'UTR|KDM2A_ENST00000526258.1_3'UTR	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A						histone H3-K36 demethylation (GO:0070544)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						AATCTGCTGAATCTTTTGACTG	0.49																																																	0																																										SO:0001624	3_prime_UTR_variant	0			BC047486	CCDS44657.1, CCDS58148.1	11q13.1	2014-02-18	2009-04-06	2009-04-06	ENSG00000173120	ENSG00000173120		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13606	protein-coding gene	gene with protein product	"""F-box protein FBL11"", ""jumonji C domain-containing histone demethylase 1A"""	605657	"""F-box and leucine-rich repeat protein 11"""	FBXL11		10231032, 10531037	Standard	NM_012308		Approved	KIAA1004, FBL11, LILINA, DKFZP434M1735, FBL7, FLJ00115, CXXC8, JHDM1A	uc001ojw.3	Q9Y2K7	OTTHUMG00000167103	ENST00000529006.2:c.*1777->T	11.37:g.67024303_67024303dupT			D4QA03|E9PIL6|I3VM55|Q49A21|Q4G0M3|Q69YY8|Q9BVH5|Q9H7H5|Q9UK66	RNA	INS	-	NULL	ENST00000529006.2	37	NULL	CCDS44657.1	11																																																																																			KDM2A	-	-	ENSG00000173120		0.490	KDM2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM2A	HGNC	protein_coding	OTTHUMT00000393140.2		0.00	12	0	-	NM_012308		67024303	+1	tier1		no_errors	ENST00000524657	ensembl	human	known	74_37	rna	46.48	38	33	INS	0.011:0.012	T
KDM4A	9682	genome.wustl.edu	37	1	44132178	44132178	+	Silent	SNP	C	C	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr1:44132178C>T	ENST00000372396.3	+	7	863	c.729C>T	c.(727-729)acC>acT	p.T243T	KDM4A_ENST00000463151.1_3'UTR	NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A	243	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				cardiac muscle hypertrophy in response to stress (GO:0014898)|histone demethylation (GO:0016577)|histone H3-K36 demethylation (GO:0070544)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|methylated histone binding (GO:0035064)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						ACAAGATGACCCTGATTTCCC	0.458																																																	0													103.0	91.0	95.0					1																	44132178		2203	4300	6503	SO:0001819	synonymous_variant	0			AB014577	CCDS491.1	1p34.1	2013-01-23	2009-04-06	2009-04-06	ENSG00000066135	ENSG00000066135		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	22978	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 3A"", ""tudor domain containing 14A"""	609764	"""jumonji domain containing 2"", ""jumonji domain containing 2A"""	JMJD2, JMJD2A		9734811, 15138608	Standard	XM_005271354		Approved	KIAA0677, JHDM3A, TDRD14A	uc001cjx.3	O75164	OTTHUMG00000007560	ENST00000372396.3:c.729C>T	1.37:g.44132178C>T			Q5VVB1	Silent	SNP	pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom	p.T243	ENST00000372396.3	37	c.729	CCDS491.1	1																																																																																			KDM4A	-	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	ENSG00000066135		0.458	KDM4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM4A	HGNC	protein_coding	OTTHUMT00000019960.1	-	0.00	21	0	C	NM_014663		44132178	+1	tier1	-	no_errors	ENST00000372396	ensembl	human	known	74_37	silent	20.69	46	12	SNP	0.986	T
KIAA1217	56243	genome.wustl.edu	37	10	24762592	24762592	+	Missense_Mutation	SNP	G	G	A	rs368870981		TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr10:24762592G>A	ENST00000376454.3	+	6	1312	c.1282G>A	c.(1282-1284)Gcc>Acc	p.A428T	KIAA1217_ENST00000396445.1_Missense_Mutation_p.A146T|KIAA1217_ENST00000307544.6_Missense_Mutation_p.A146T|KIAA1217_ENST00000376451.2_Missense_Mutation_p.A146T|KIAA1217_ENST00000458595.1_Missense_Mutation_p.A428T|KIAA1217_ENST00000376452.3_Missense_Mutation_p.A428T|KIAA1217_ENST00000430453.2_Missense_Mutation_p.A349T|KIAA1217_ENST00000396446.1_Missense_Mutation_p.A146T|KIAA1217_ENST00000376462.1_Missense_Mutation_p.A348T	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	428					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						TCACCGCACCGCCATCCGGTC	0.498																																																	0								G	THR/ALA,THR/ALA,THR/ALA	0,4406		0,0,2203	78.0	69.0	72.0		1042,1282,1282	5.6	0.3	10		72	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	KIAA1217	NM_001098500.1,NM_001098501.1,NM_019590.3	58,58,58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	348/1265,428/1310,428/1944	24762592	1,13005	2203	4300	6503	SO:0001583	missense	0			BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"""sickle tail"""					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.1282G>A	10.37:g.24762592G>A	ENSP00000365637:p.Ala428Thr		A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Missense_Mutation	SNP	pfam_AIP3_C	p.A428T	ENST00000376454.3	37	c.1282	CCDS31165.1	10	.	.	.	.	.	.	.	.	.	.	G	13.54	2.268777	0.40095	0.0	1.16E-4	ENSG00000120549	ENST00000376462;ENST00000376456;ENST00000458595;ENST00000442879;ENST00000376454;ENST00000376452;ENST00000438429;ENST00000430453;ENST00000307544;ENST00000450158;ENST00000396445;ENST00000376451;ENST00000396446	T;T;T;T;T;T;T;T;T;T;T	0.51325	0.71;0.71;0.71;0.71;0.71;0.71;0.71;0.71;0.71;0.71;0.71	5.55	5.55	0.83447	.	0.050373	0.85682	D	0.000000	T	0.57829	0.2080	L	0.47716	1.5	0.41231	D	0.986579	P;B;P;B;D;D;D;P	0.89917	0.88;0.349;0.937;0.314;0.99;0.972;1.0;0.48	B;B;B;B;P;P;D;B	0.87578	0.173;0.12;0.281;0.144;0.496;0.496;0.998;0.071	T	0.56505	-0.7968	10	0.39692	T	0.17	.	8.7702	0.34728	0.0753:0.0:0.774:0.1507	.	428;428;146;146;146;146;428;428	Q5T5P2-7;A6NLF3;Q5T5P2-4;Q5T5P2-8;Q5T5P2-3;Q5T5P2-6;Q5T5P2;Q5T5P2-2	.;.;.;.;.;.;SKT_HUMAN;.	T	348;428;428;146;428;428;278;349;146;146;146;146;146	ENSP00000365645:A348T;ENSP00000365639:A428T;ENSP00000392625:A428T;ENSP00000365637:A428T;ENSP00000365635:A428T;ENSP00000404798:A278T;ENSP00000389680:A349T;ENSP00000302343:A146T;ENSP00000379722:A146T;ENSP00000365634:A146T;ENSP00000379723:A146T	ENSP00000302343:A146T	A	+	1	0	KIAA1217	24802598	0.999000	0.42202	0.297000	0.24988	0.682000	0.39822	3.152000	0.50677	2.622000	0.88805	0.655000	0.94253	GCC	KIAA1217	-	NULL	ENSG00000120549		0.498	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1217	HGNC	protein_coding	OTTHUMT00000047223.2		0.00	10	0	G	NM_019590		24762592	+1			no_errors	ENST00000376454	ensembl	human	known	74_37	missense	6.67	28	2	SNP	0.962	A
KRTAP1-4	728255	genome.wustl.edu	37	17	39186143	39186143	+	Missense_Mutation	SNP	C	C	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr17:39186143C>T	ENST00000377747.4	-	1	213	c.188G>A	c.(187-189)tGc>tAc	p.C63Y	KRTAP1-5_ENST00000361883.5_5'Flank	NM_001257305.1	NP_001244234.1	P0C5Y4	KRA14_HUMAN	keratin associated protein 1-4	63						keratin filament (GO:0045095)				lung(1)	1						ATCTGGGTGGCACCACCTGAT	0.662																																																	0																																										SO:0001583	missense	0			AC007455	CCDS58548.1	17q21.2	2010-06-22			ENSG00000204887	ENSG00000204887		"""Keratin associated proteins"""	18904	protein-coding gene	gene with protein product		608821					Standard	NM_001257305		Approved	KAP1.4	uc031raf.1	P0C5Y4	OTTHUMG00000133631	ENST00000377747.4:c.188G>A	17.37:g.39186143C>T	ENSP00000366976:p.Cys63Tyr		A6NJ92	Missense_Mutation	SNP	pfam_Keratin-assoc	p.C63Y	ENST00000377747.4	37	c.188	CCDS58548.1	17	.	.	.	.	.	.	.	.	.	.	C	16.67	3.189053	0.57909	.	.	ENSG00000204887	ENST00000377747	T	0.50001	0.76	4.6	4.6	0.57074	.	0.000000	0.44688	D	0.000425	T	0.59905	0.2228	.	.	.	.	.	.	.	.	.	.	.	.	T	0.70673	-0.4807	6	0.59425	D	0.04	.	13.6272	0.62173	0.0:1.0:0.0:0.0	.	.	.	.	Y	63	ENSP00000366976:C63Y	ENSP00000366976:C63Y	C	-	2	0	KRTAP1-4	36439669	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	2.068000	0.41471	2.482000	0.83794	0.655000	0.94253	TGC	KRTAP1-4	-	pfam_Keratin-assoc	ENSG00000204887		0.662	KRTAP1-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP1-4	HGNC	protein_coding	OTTHUMT00000257776.3	-	0.00	59	0	C			39186143	-1	tier1	-	no_errors	ENST00000377747	ensembl	human	known	74_37	missense	17.84	175	38	SNP	1.000	T
KRTAP10-5	386680	genome.wustl.edu	37	21	45999672	45999672	+	Missense_Mutation	SNP	A	A	C			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr21:45999672A>C	ENST00000400372.1	-	1	809	c.784T>G	c.(784-786)Tgc>Ggc	p.C262G	TSPEAR_ENST00000323084.4_Intron	NM_198694.2	NP_941967.2	P60370	KR105_HUMAN	keratin associated protein 10-5	262						keratin filament (GO:0045095)				endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						GCGGGGCGGCAGAGGAGGGAC	0.701																																																	0													26.0	34.0	32.0					21																	45999672		2190	4274	6464	SO:0001583	missense	0			AJ566384	CCDS42958.1	21q22.3	2007-10-05			ENSG00000241123	ENSG00000241123		"""Keratin associated proteins"""	22969	protein-coding gene	gene with protein product				KRTAP18-5			Standard	NM_198694		Approved	KAP10.5, KAP18.5	uc002zfl.1	P60370	OTTHUMG00000057638	ENST00000400372.1:c.784T>G	21.37:g.45999672A>C	ENSP00000383223:p.Cys262Gly		Q0VAR7|Q0VAR8|Q70LJ3	Missense_Mutation	SNP	NULL	p.C262G	ENST00000400372.1	37	c.784	CCDS42958.1	21	.	.	.	.	.	.	.	.	.	.	a	11.43	1.635038	0.29068	.	.	ENSG00000241123	ENST00000400372	T	0.00995	5.46	3.83	3.83	0.44106	.	.	.	.	.	T	0.06645	0.0170	M	0.89715	3.055	0.29715	N	0.839104	D	0.76494	0.999	D	0.79108	0.992	T	0.01269	-1.1400	9	0.62326	D	0.03	.	10.8456	0.46741	1.0:0.0:0.0:0.0	.	262	P60370	KR105_HUMAN	G	262	ENSP00000383223:C262G	ENSP00000383223:C262G	C	-	1	0	KRTAP10-5	44824100	0.968000	0.33430	0.997000	0.53966	0.059000	0.15707	1.922000	0.40045	1.716000	0.51395	0.374000	0.22700	TGC	KRTAP10-5	-	NULL	ENSG00000241123		0.701	KRTAP10-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP10-5	HGNC	protein_coding	OTTHUMT00000128042.1	-	0.00	47	0	A			45999672	-1	tier1	-	no_errors	ENST00000400372	ensembl	human	known	74_37	missense	26.56	94	34	SNP	0.980	C
KRTAP2-4	85294	genome.wustl.edu	37	17	39221973	39221973	+	Missense_Mutation	SNP	C	C	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr17:39221973C>T	ENST00000394015.2	-	1	158	c.125G>A	c.(124-126)cGc>cAc	p.R42H		NM_033184.3	NP_149440.1	Q9BYR9	KRA24_HUMAN	keratin associated protein 2-4	42	10 X 5 AA repeats of C-C-[CDPQRW]- [ADPRS]-[CIPSTV].					keratin filament (GO:0045095)				skin(1)	1		Breast(137;0.000496)|Myeloproliferative disorder(1115;0.204)	STAD - Stomach adenocarcinoma(17;0.000371)			GGTCACGGGGCGGCACACGGT	0.746																																																	0													1.0	1.0	1.0					17																	39221973		644	1581	2225	SO:0001583	missense	0			AJ406930		17q21.2	2012-04-19			ENSG00000213417	ENSG00000213417		"""Keratin associated proteins"""	18891	protein-coding gene	gene with protein product						11279113	Standard	NM_033184		Approved	KAP2.4	uc002hvy.3	Q9BYR9	OTTHUMG00000133594	ENST00000394015.2:c.125G>A	17.37:g.39221973C>T	ENSP00000377583:p.Arg42His		Q495J2	Missense_Mutation	SNP	pfam_Keratin-assoc	p.R42H	ENST00000394015.2	37	c.125	CCDS32648.1	17	.	.	.	.	.	.	.	.	.	.	.	33	5.206868	0.95033	.	.	ENSG00000213417	ENST00000394015	T	0.33216	1.42	5.27	5.27	0.74061	.	0.217662	0.24109	U	0.041469	T	0.56411	0.1983	M	0.85859	2.78	0.38169	D	0.939288	.	.	.	.	.	.	T	0.66002	-0.6031	8	0.66056	D	0.02	.	14.4731	0.67529	0.0:1.0:0.0:0.0	.	.	.	.	H	42	ENSP00000377583:R42H	ENSP00000377583:R42H	R	-	2	0	KRTAP2-4	36475499	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	2.704000	0.47118	2.470000	0.83445	0.650000	0.86243	CGC	KRTAP2-4	-	pfam_Keratin-assoc	ENSG00000213417		0.746	KRTAP2-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP2-4	HGNC	protein_coding	OTTHUMT00000257698.1	-	0.00	14	0	C	NM_033184		39221973	-1	tier1	-	no_errors	ENST00000394015	ensembl	human	known	74_37	missense	19.64	45	11	SNP	1.000	T
LAMB2	3913	genome.wustl.edu	37	3	49160628	49160628	+	Silent	SNP	C	C	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr3:49160628C>T	ENST00000418109.1	-	27	4325	c.4161G>A	c.(4159-4161)caG>caA	p.Q1387Q	LAMB2_ENST00000464891.1_5'Flank|USP19_ENST00000488993.1_5'Flank|LAMB2_ENST00000305544.4_Silent_p.Q1387Q|USP19_ENST00000453664.1_5'Flank|USP19_ENST00000434032.2_5'Flank|USP19_ENST00000417901.1_5'Flank|USP19_ENST00000398888.2_5'Flank|USP19_ENST00000398892.3_5'Flank	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	1387	Domain II.				astrocyte development (GO:0014002)|axon extension involved in regeneration (GO:0048677)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|metanephric glomerular basement membrane development (GO:0072274)|metanephric glomerular visceral epithelial cell development (GO:0072249)|neuromuscular junction development (GO:0007528)|retina development in camera-type eye (GO:0060041)|Schwann cell development (GO:0014044)|visual perception (GO:0007601)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-11 complex (GO:0043260)|laminin-3 complex (GO:0005608)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CAAGTGCCCGCTGGTTGGCCA	0.567																																																	0													181.0	149.0	160.0					3																	49160628		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS2789.1	3p21.3-p21.2	2013-03-01			ENSG00000172037	ENSG00000172037		"""Laminins"""	6487	protein-coding gene	gene with protein product	"""laminin S"""	150325		LAMS		2922051, 10393422	Standard	NM_002292		Approved		uc003cwe.3	P55268	OTTHUMG00000156807	ENST00000418109.1:c.4161G>A	3.37:g.49160628C>T			Q16321	Silent	SNP	pfam_EGF_laminin,pfam_Laminin_N,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N	p.Q1387	ENST00000418109.1	37	c.4161	CCDS2789.1	3																																																																																			LAMB2	-	NULL	ENSG00000172037		0.567	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMB2	HGNC	protein_coding	OTTHUMT00000345939.1		0.00	26	0	C	NM_002292		49160628	-1			no_errors	ENST00000305544	ensembl	human	known	74_37	silent	6.67	56	4	SNP	1.000	T
LAMC3	10319	genome.wustl.edu	37	9	133945187	133945187	+	Missense_Mutation	SNP	G	G	A	rs141105450		TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr9:133945187G>A	ENST00000361069.4	+	17	3152	c.3019G>A	c.(3019-3021)Ggc>Agc	p.G1007S	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	1007	Laminin EGF-like 11. {ECO:0000255|PROSITE-ProRule:PRU00460}.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CACGGCAGACGGCACACACTG	0.602																																																	0								G	SER/GLY	1,4399		0,1,2199	57.0	39.0	45.0		3019	3.9	0.0	9	dbSNP_134	45	0,8594		0,0,4297	no	missense	LAMC3	NM_006059.3	56	0,1,6496	AA,AG,GG		0.0,0.0227,0.0077	benign	1007/1576	133945187	1,12993	2200	4297	6497	SO:0001583	missense	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.3019G>A	9.37:g.133945187G>A	ENSP00000354360:p.Gly1007Ser		B1APX9|B1APY0|Q59H72	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_B_type_IV,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N	p.G1007S	ENST00000361069.4	37	c.3019	CCDS6938.1	9	.	.	.	.	.	.	.	.	.	.	G	0.975	-0.698899	0.03279	2.27E-4	0.0	ENSG00000050555	ENST00000361069;ENST00000355048	T	0.53857	0.6	4.78	3.88	0.44766	EGF-like, laminin (4);	0.298854	0.32055	N	0.006657	T	0.27489	0.0675	N	0.11673	0.155	0.09310	N	1	B	0.28378	0.209	B	0.25884	0.064	T	0.16719	-1.0393	10	0.11794	T	0.64	.	8.7078	0.34365	0.195:0.0:0.805:0.0	.	1007	Q9Y6N6	LAMC3_HUMAN	S	1007	ENSP00000354360:G1007S	ENSP00000347156:G1007S	G	+	1	0	LAMC3	132935008	0.000000	0.05858	0.005000	0.12908	0.210000	0.24377	0.175000	0.16762	1.010000	0.39314	0.650000	0.86243	GGC	LAMC3	-	pfam_EGF_laminin,smart_EGF_laminin,smart_EG-like_dom,pfscan_EGF_laminin	ENSG00000050555		0.602	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMC3	HGNC	protein_coding	OTTHUMT00000054717.3	-	0.00	22	0	G	NM_006059		133945187	+1	tier1	rs141105450	no_errors	ENST00000361069	ensembl	human	known	74_37	missense	34.88	28	15	SNP	0.011	A
LASP1	3927	genome.wustl.edu	37	17	37074987	37074987	+	Missense_Mutation	SNP	G	G	A			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr17:37074987G>A	ENST00000318008.6	+	7	1073	c.742G>A	c.(742-744)Ggc>Agc	p.G248S	RP1-56K13.3_ENST00000580121.1_RNA|LASP1_ENST00000435347.3_Missense_Mutation_p.G248S|LASP1_ENST00000433206.2_Missense_Mutation_p.G192S	NM_006148.2	NP_006139.1	Q14847	LASP1_HUMAN	LIM and SH3 protein 1	248	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				ion transport (GO:0006811)|positive regulation of signal transduction (GO:0009967)	cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	ion transmembrane transporter activity (GO:0015075)|SH3/SH2 adaptor activity (GO:0005070)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(2)|lung(4)|urinary_tract(2)	9						GGAGCGCACCGGCGACACGGG	0.662			T	MLL	AML																																			Dom	yes		17	17q11-q21.3	3927	LIM and SH3 protein 1		L	0													94.0	83.0	87.0					17																	37074987		2203	4300	6503	SO:0001583	missense	0				CCDS11331.1, CCDS62164.1	17q11-q21.3	2008-07-18			ENSG00000002834	ENSG00000002834			6513	protein-coding gene	gene with protein product		602920				7490069	Standard	NM_006148		Approved	MLN50, Lasp-1	uc010cvq.3	Q14847	OTTHUMG00000133182	ENST00000318008.6:c.742G>A	17.37:g.37074987G>A	ENSP00000325240:p.Gly248Ser		B4DGQ0|Q96ED2|Q96IG0	Missense_Mutation	SNP	pfam_Nebulin_35r-motif,pfam_Znf_LIM,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Znf_LIM,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Znf_LIM,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_SH3_domain	p.G248S	ENST00000318008.6	37	c.742	CCDS11331.1	17	.	.	.	.	.	.	.	.	.	.	G	36	5.934786	0.97122	.	.	ENSG00000002834	ENST00000318008;ENST00000433206;ENST00000435347	T;T;T	0.63255	-0.03;-0.03;-0.03	5.39	5.39	0.77823	Src homology-3 domain (4);	0.906345	0.09459	N	0.799292	D	0.83312	0.5227	M	0.85630	2.765	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.80756	-0.1240	10	0.66056	D	0.02	.	17.7153	0.88335	0.0:0.0:1.0:0.0	.	192;248	B4DGQ0;Q14847	.;LASP1_HUMAN	S	248;192;248	ENSP00000325240:G248S;ENSP00000401048:G192S;ENSP00000392853:G248S	ENSP00000325240:G248S	G	+	1	0	LASP1	34328513	1.000000	0.71417	0.946000	0.38457	0.980000	0.70556	9.779000	0.99018	2.540000	0.85666	0.462000	0.41574	GGC	LASP1	-	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	ENSG00000002834		0.662	LASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LASP1	HGNC	protein_coding	OTTHUMT00000256890.3		0.00	13	0	G	NM_006148		37074987	+1			no_errors	ENST00000318008	ensembl	human	known	74_37	missense	8.33	55	5	SNP	1.000	A
LDLR	3949	genome.wustl.edu	37	19	11240346	11240346	+	Splice_Site	SNP	G	G	A			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr19:11240346G>A	ENST00000558518.1	+	17	2734	c.2547G>A	c.(2545-2547)tcG>tcA	p.S849S	LDLR_ENST00000455727.2_Splice_Site_p.S681S|LDLR_ENST00000558013.1_Splice_Site_p.S849S|LDLR_ENST00000535915.1_Splice_Site_p.S808S|LDLR_ENST00000557933.1_Splice_Site_p.R870Q|LDLR_ENST00000545707.1_Splice_Site_p.S671S|LDLR_ENST00000560628.1_Intron	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	849	Required for MYLIP-triggered down- regulation of LDLR.				cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|intestinal cholesterol absorption (GO:0030299)|lipid metabolic process (GO:0006629)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid transport (GO:0015914)|phototransduction, visible light (GO:0007603)|positive regulation of triglyceride biosynthetic process (GO:0010867)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol homeostasis (GO:2000188)|regulation of phosphatidylcholine catabolic process (GO:0010899)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|low-density lipoprotein particle (GO:0034362)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|glycoprotein binding (GO:0001948)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Porfimer(DB00707)	GCTACCCCTCGGTGAGTGACC	0.582																																					GBM(18;201 575 7820 21545)												0													101.0	79.0	86.0					19																	11240346		2203	4300	6503	SO:0001630	splice_region_variant	0			AY114155	CCDS12254.1, CCDS56083.1, CCDS56084.1, CCDS56085.1, CCDS58651.1	19p13.2	2014-09-17	2008-08-01		ENSG00000130164	ENSG00000130164		"""Low density lipoprotein receptors"""	6547	protein-coding gene	gene with protein product	"""familial hypercholesterolemia"""	606945					Standard	NM_000527		Approved	LDLCQ2	uc002mqk.4	P01130		ENST00000558518.1:c.2547+1G>A	19.37:g.11240346G>A			B4DII3|B4DJZ8|B4DR00|B4DTQ3|C0JYY8|H0YLU8|H0YNT7|Q53ZD9|Q59FQ1|Q9UDH7	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.R870Q	ENST00000558518.1	37	c.2609	CCDS12254.1	19																																																																																			LDLR	-	NULL	ENSG00000130164		0.582	LDLR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LDLR	HGNC	protein_coding	OTTHUMT00000415973.2		0.00	14	0	G		Silent	11240346	+1			no_errors	ENST00000557933	ensembl	human	novel	74_37	missense	8.00	23	2	SNP	1.000	A
LINC00152	112597	genome.wustl.edu	37	2	87820801	87820801	+	lincRNA	SNP	G	G	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr2:87820801G>T	ENST00000409054.1	+	0	278					NR_015395.1				long intergenic non-protein coding RNA 152																		TCACGACTCAGCCCCCTCCAG	0.507																																																	0													67.0	68.0	68.0					2																	87820801		692	1591	2283			0			BC009508		2p11.2	2014-02-14	2011-08-11	2011-08-11	ENSG00000222041	ENSG00000222041		"""Long non-coding RNAs"""	28717	non-coding RNA	RNA, long non-coding			"""chromosome 2 open reading frame 59"", ""non-protein coding RNA 152"""	C2orf59, NCRNA00152		24523021, 23801869, 22689435, 24036268	Standard	NR_024204		Approved	MGC4677	uc002ssk.4		OTTHUMG00000130273		2.37:g.87820801G>T				RNA	SNP	-	NULL	ENST00000409054.1	37	NULL		2																																																																																			LINC00152	-	-	ENSG00000222041		0.507	LINC00152-005	KNOWN	basic	lincRNA	LINC00152	HGNC	lincRNA	OTTHUMT00000330387.3		0.00	29	0	G	XR_042051		87820801	+1			no_errors	ENST00000331944	ensembl	human	known	74_37	rna	5.41	69	4	SNP	1.000	T
LINC00686	140865	genome.wustl.edu	37	20	61331792	61331792	+	lincRNA	SNP	A	A	G			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr20:61331792A>G	ENST00000435412.1	-	0	40									long intergenic non-protein coding RNA 686																		GGCGGGCATGACAAGACCCTC	0.647																																																	0																																												0			D80415		20q13.33	2012-10-24	2012-10-24	2012-10-24	ENSG00000237687	ENSG00000237687		"""Long non-coding RNAs"""	16221	non-coding RNA	RNA, long non-coding			"""chromosome 20 open reading frame 90"""	C20orf90			Standard			Approved	bA93B14.2			OTTHUMG00000032927		20.37:g.61331792A>G				RNA	SNP	-	NULL	ENST00000435412.1	37	NULL		20	.	.	.	.	.	.	.	.	.	.	A	6.747	0.506653	0.12883	.	.	ENSG00000237687	ENST00000435412	.	.	.	1.73	-0.443	0.12249	.	.	.	.	.	T	0.35537	0.0935	.	.	.	.	.	.	.	.	.	.	.	.	T	0.45116	-0.9283	4	0.87932	D	0	.	2.068	0.03607	0.2085:0.0:0.4797:0.3117	.	.	.	.	A	14	.	ENSP00000414143:V14A	V	-	2	0	C20orf90	60802237	0.000000	0.05858	0.001000	0.08648	0.114000	0.19823	-0.117000	0.10708	-0.082000	0.12640	0.172000	0.16884	GTC	LINC00686	-	-	ENSG00000237687		0.647	LINC00686-001	KNOWN	basic	lincRNA	LINC00686	HGNC	lincRNA	OTTHUMT00000080056.1		0.00	11	0	A			61331792	-1			no_errors	ENST00000435412	ensembl	human	known	74_37	rna	12.50	28	4	SNP	0.001	G
LOC100287497	100287497	genome.wustl.edu	37	1	224196625	224196625	+	lincRNA	SNP	A	A	G			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr1:224196625A>G	ENST00000572124.1	+	0	197				RP11-504P24.4_ENST00000540997.1_lincRNA																							CCTAAGTTCCAGGCAACTCAA	0.428																																																	0																																												0																															1.37:g.224196625A>G				RNA	SNP	-	NULL	ENST00000572124.1	37	NULL		1																																																																																			RP11-504P24.4	-	-	ENSG00000185495		0.428	RP11-504P24.6-001	KNOWN	basic	lincRNA	LOC100287497	Clone_based_vega_gene	lincRNA	OTTHUMT00000436999.1	-	0.00	23	0	A			224196625	+1	tier1	-	no_errors	ENST00000540997	ensembl	human	known	74_37	rna	13.73	88	14	SNP	0.014	G
LINC01410	103352539	genome.wustl.edu	37	9	66457330	66457330	+	lincRNA	SNP	G	G	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr9:66457330G>T	ENST00000424345.1	+	0	42				RNA5SP283_ENST00000365604.1_RNA																							cagcgacagagccttggagag	0.632																																																	0																																												0																															9.37:g.66457330G>T				RNA	SNP	-	NULL	ENST00000424345.1	37	NULL		9																																																																																			RP11-262H14.1	-	-	ENSG00000238113		0.632	RP11-262H14.1-001	KNOWN	basic	lincRNA	LOC100996870	Clone_based_vega_gene	lincRNA	OTTHUMT00000128851.1	-	0.00	26	0	G			66457330	+1	tier1	-	no_errors	ENST00000424345	ensembl	human	known	74_37	rna	12.35	71	10	SNP	0.200	T
BAALC	79870	genome.wustl.edu	37	8	104178509	104178509	+	Intron	SNP	T	T	A			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr8:104178509T>A	ENST00000297574.6	+	1	299				BAALC_ENST00000306391.6_Intron|RP11-318M2.2_ENST00000499522.2_RNA|RP11-318M2.2_ENST00000521102.1_RNA|RP11-318M2.2_ENST00000500902.1_RNA|BAALC_ENST00000330955.5_Intron|BAALC_ENST00000309982.5_Intron|BAALC_ENST00000438105.2_Intron			Q8WXS3	BAALC_HUMAN	brain and acute leukemia, cytoplasmic							cytoplasm (GO:0005737)|membrane (GO:0016020)				kidney(1)|large_intestine(3)|lung(3)	7			OV - Ovarian serous cystadenocarcinoma(57;3.49e-05)|STAD - Stomach adenocarcinoma(118;0.133)			CAGACCCGCCTGCTGATTGTT	0.433																																																	0																																										SO:0001627	intron_variant	0			AF363578	CCDS6297.1, CCDS47906.1	8q22.3	2008-07-29			ENSG00000164929	ENSG00000164929			14333	protein-coding gene	gene with protein product		606602				11707601	Standard	NM_024812		Approved		uc003yld.3	Q8WXS3	OTTHUMG00000164782	ENST00000297574.6:c.160+25224T>A	8.37:g.104178509T>A			Q8WTP6|Q8WXS0|Q8WXS1|Q8WXS2|Q9HA93	RNA	SNP	-	NULL	ENST00000297574.6	37	NULL		8																																																																																			RP11-318M2.2	-	-	ENSG00000247081		0.433	BAALC-003	KNOWN	basic	protein_coding	LOC101927343	Clone_based_vega_gene	protein_coding	OTTHUMT00000380257.1	-	0.00	12	0	T			104178509	-1	tier1	-	no_errors	ENST00000499522	ensembl	human	known	74_37	rna	29.73	52	22	SNP	0.002	A
LPCAT2	54947	genome.wustl.edu	37	16	55608567	55608567	+	Nonsense_Mutation	SNP	C	C	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr16:55608567C>T	ENST00000262134.5	+	12	1424	c.1240C>T	c.(1240-1242)Cga>Tga	p.R414*	LPCAT2_ENST00000565056.1_3'UTR	NM_017839.4	NP_060309.2	Q7L5N7	PCAT2_HUMAN	lysophosphatidylcholine acyltransferase 2	414	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				glycerophospholipid biosynthetic process (GO:0046474)|membrane organization (GO:0061024)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)|1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)|1-alkylglycerophosphocholine O-acetyltransferase activity (GO:0047192)|calcium ion binding (GO:0005509)			endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	12						CATTGACTTCCGAGAGTATGT	0.448																																																	0													169.0	131.0	144.0					16																	55608567		2198	4300	6498	SO:0001587	stop_gained	0			AK000488	CCDS10753.1	16q12.2	2013-01-10	2007-12-17	2007-12-17	ENSG00000087253	ENSG00000087253		"""EF-hand domain containing"""	26032	protein-coding gene	gene with protein product		612040	"""acyltransferase like 1"""	AYTL1		16704971	Standard	NM_017839		Approved	FLJ20481	uc002eie.4	Q7L5N7	OTTHUMG00000133238	ENST00000262134.5:c.1240C>T	16.37:g.55608567C>T	ENSP00000262134:p.Arg414*		A3KBM1|Q6MZJ6|Q9NX23	Nonsense_Mutation	SNP	pfam_EF_hand_dom,pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin	p.R414*	ENST00000262134.5	37	c.1240	CCDS10753.1	16	.	.	.	.	.	.	.	.	.	.	C	37	6.602750	0.97697	.	.	ENSG00000087253	ENST00000262134	.	.	.	5.84	3.74	0.42951	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.8774	12.3155	0.54953	0.5722:0.4278:0.0:0.0	.	.	.	.	X	414	.	ENSP00000262134:R414X	R	+	1	2	LPCAT2	54166068	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.870000	0.48451	1.463000	0.47967	0.655000	0.94253	CGA	LPCAT2	-	smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin	ENSG00000087253		0.448	LPCAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPCAT2	HGNC	protein_coding	OTTHUMT00000256977.2	-	0.00	17	0	C	NM_017839		55608567	+1	tier1	-	no_errors	ENST00000262134	ensembl	human	known	74_37	nonsense	31.82	45	21	SNP	1.000	T
LOC388282	388282	genome.wustl.edu	37	16	57850388	57850388	+	Missense_Mutation	SNP	G	G	C			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr16:57850388G>C	ENST00000564282.1	+	4	847	c.307G>C	c.(307-309)Ggg>Cgg	p.G103R	CTD-2600O9.1_ENST00000335616.2_Missense_Mutation_p.G103R	NM_001278081.1	NP_001265010.1																					AGTGACTCACGGGCCCTGCTG	0.597																																																	0																																										SO:0001583	missense	0																														ENST00000564282.1:c.307G>C	16.37:g.57850388G>C	ENSP00000457453:p.Gly103Arg			Missense_Mutation	SNP	NULL	p.G103R	ENST00000564282.1	37	c.307		16	.	.	.	.	.	.	.	.	.	.	G	9.692	1.152031	0.21371	.	.	ENSG00000187185	ENST00000335616	.	.	.	1.65	-0.576	0.11731	.	.	.	.	.	T	0.17492	0.0420	.	.	.	0.19300	N	0.999974	P	0.45348	0.856	B	0.34722	0.188	T	0.14952	-1.0454	7	0.87932	D	0	.	4.3272	0.11046	0.3759:0.0:0.6241:0.0	.	103	Q86VG7	.	R	103	.	ENSP00000334077:G103R	G	+	1	0	AC092118.1	56407889	0.002000	0.14202	0.028000	0.17463	0.206000	0.24218	-0.357000	0.07651	-0.079000	0.12707	0.543000	0.68304	GGG	CTD-2600O9.1	-	NULL	ENSG00000187185		0.597	CTD-2600O9.1-001	PUTATIVE	basic|appris_principal	protein_coding	LOC388282	Clone_based_vega_gene	protein_coding	OTTHUMT00000433167.1	-	0.00	19	0	G			57850388	+1	tier1	-	no_errors	ENST00000335616	ensembl	human	known	74_37	missense	28.57	30	12	SNP	0.018	C
LPL	4023	genome.wustl.edu	37	8	19809439	19809439	+	Missense_Mutation	SNP	C	C	T	rs376875031		TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr8:19809439C>T	ENST00000311322.8	+	3	879	c.409C>T	c.(409-411)Cgg>Tgg	p.R137W		NM_000237.2	NP_000228.1	P06858	LIPL_HUMAN	lipoprotein lipase	137					chylomicron remodeling (GO:0034371)|fatty acid biosynthetic process (GO:0006633)|lipoprotein metabolic process (GO:0042157)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of sequestering of triglyceride (GO:0010890)|response to cold (GO:0009409)|response to drug (GO:0042493)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|triglyceride metabolic process (GO:0006641)|very-low-density lipoprotein particle remodeling (GO:0034372)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|chylomicron (GO:0042627)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein binding (GO:0034185)|heparin binding (GO:0008201)|lipoprotein lipase activity (GO:0004465)|phospholipase activity (GO:0004620)|receptor binding (GO:0005102)|triglyceride binding (GO:0017129)|triglyceride lipase activity (GO:0004806)	p.R137R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	AST-120(DB05269)|Tyloxapol(DB06439)	GGATGTGGCCCGGTTTATCAA	0.522																																																	1	Substitution - coding silent(1)	lung(1)						C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	84.0	78.0	80.0		409	2.1	0.9	8		80	0,8600		0,0,4300	no	missense	LPL	NM_000237.2	101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	137/476	19809439	1,13005	2203	4300	6503	SO:0001583	missense	0				CCDS6012.1	8p22	2012-10-02			ENSG00000175445	ENSG00000175445	3.1.1.34		6677	protein-coding gene	gene with protein product		609708		LIPD			Standard	NM_000237		Approved		uc003wzk.4	P06858	OTTHUMG00000036645	ENST00000311322.8:c.409C>T	8.37:g.19809439C>T	ENSP00000309757:p.Arg137Trp		B2R5T9|Q16282|Q16283|Q96FC4	Missense_Mutation	SNP	pirsf_Lipoprotein_lipase_LIPH,pfam_Lipase_N,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,prints_Lipo_Lipase,prints_Lipase,pfscan_PLAT/LH2_dom,tigrfam_Lipo_Lipase	p.R137W	ENST00000311322.8	37	c.409	CCDS6012.1	8	.	.	.	.	.	.	.	.	.	.	C	16.98	3.271276	0.59649	2.27E-4	0.0	ENSG00000175445	ENST00000520959;ENST00000311322;ENST00000538071;ENST00000535763	D;D	0.91631	-2.88;-2.88	5.91	2.12	0.27331	Lipase, N-terminal (1);	0.366777	0.34603	N	0.003839	D	0.93762	0.8006	M	0.73430	2.235	0.27471	N	0.952877	D	0.56746	0.977	P	0.56612	0.802	D	0.93965	0.7244	8	.	.	.	-6.7717	12.5697	0.56331	0.5927:0.4073:0.0:0.0	.	137	P06858	LIPL_HUMAN	W	61;137;61;123	ENSP00000428496:R61W;ENSP00000309757:R137W	.	R	+	1	2	LPL	19853719	0.000000	0.05858	0.901000	0.35422	0.743000	0.42351	0.510000	0.22723	0.130000	0.18549	-0.740000	0.03531	CGG	LPL	-	pirsf_Lipoprotein_lipase_LIPH,pfam_Lipase_N,prints_Lipase,tigrfam_Lipo_Lipase	ENSG00000175445		0.522	LPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPL	HGNC	protein_coding	OTTHUMT00000089113.3	-	0.00	17	0	C			19809439	+1	tier1	-	no_errors	ENST00000311322	ensembl	human	known	74_37	missense	45.10	28	23	SNP	0.185	T
LRP2	4036	genome.wustl.edu	37	2	170034503	170034503	+	Silent	SNP	C	C	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr2:170034503C>T	ENST00000263816.3	-	53	10488	c.10203G>A	c.(10201-10203)acG>acA	p.T3401T	LRP2_ENST00000461418.1_5'UTR	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3401					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	CATCATACACCGTGTGTCGAT	0.438																																																	0													115.0	100.0	105.0					2																	170034503		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.10203G>A	2.37:g.170034503C>T			O00711|Q16215	Silent	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.T3401	ENST00000263816.3	37	c.10203	CCDS2232.1	2																																																																																			LRP2	-	pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt	ENSG00000081479		0.438	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP2	HGNC	protein_coding	OTTHUMT00000255231.2	-	0.00	16	0	C	NM_004525		170034503	-1	tier1	-	no_errors	ENST00000263816	ensembl	human	known	74_37	silent	22.22	35	10	SNP	0.002	T
LRP2	4036	genome.wustl.edu	37	2	170053496	170053496	+	Missense_Mutation	SNP	G	G	A			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr2:170053496G>A	ENST00000263816.3	-	46	8908	c.8623C>T	c.(8623-8625)Cgc>Tgc	p.R2875C		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2875	LDL-receptor class A 20. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.R2875S(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	GGAATACAGCGCCCAGATGCG	0.458																																																	1	Substitution - Missense(1)	endometrium(1)											96.0	85.0	89.0					2																	170053496		2203	4300	6503	SO:0001583	missense	0				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.8623C>T	2.37:g.170053496G>A	ENSP00000263816:p.Arg2875Cys		O00711|Q16215	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.R2875C	ENST00000263816.3	37	c.8623	CCDS2232.1	2	.	.	.	.	.	.	.	.	.	.	G	17.04	3.287385	0.59976	.	.	ENSG00000081479	ENST00000263816	D	0.96136	-3.92	6.17	4.37	0.52481	.	0.143639	0.64402	D	0.000004	D	0.97247	0.9100	M	0.80982	2.52	0.20975	N	0.999818	D	0.89917	1.0	D	0.70716	0.97	D	0.92734	0.6202	10	0.87932	D	0	.	11.88	0.52568	0.063:0.0:0.8142:0.1228	.	2875	P98164	LRP2_HUMAN	C	2875	ENSP00000263816:R2875C	ENSP00000263816:R2875C	R	-	1	0	LRP2	169761742	0.921000	0.31238	0.045000	0.18777	0.717000	0.41224	3.786000	0.55431	0.926000	0.37118	0.655000	0.94253	CGC	LRP2	-	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt	ENSG00000081479		0.458	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP2	HGNC	protein_coding	OTTHUMT00000255231.2		0.00	15	0	G	NM_004525		170053496	-1			no_errors	ENST00000263816	ensembl	human	known	74_37	missense	5.66	50	3	SNP	0.011	A
LRP2	4036	genome.wustl.edu	37	2	170096247	170096247	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr2:170096247G>T	ENST00000263816.3	-	26	4369	c.4084C>A	c.(4084-4086)Cac>Aac	p.H1362N		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1362	EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	ACACACTCGTGAGTACAACCA	0.383																																																	0													76.0	76.0	76.0					2																	170096247		2203	4300	6503	SO:0001583	missense	0				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.4084C>A	2.37:g.170096247G>T	ENSP00000263816:p.His1362Asn		O00711|Q16215	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.H1362N	ENST00000263816.3	37	c.4084	CCDS2232.1	2	.	.	.	.	.	.	.	.	.	.	G	14.15	2.449007	0.43531	.	.	ENSG00000081479	ENST00000263816	D	0.90844	-2.74	5.65	5.65	0.86999	Growth factor, receptor (1);Epidermal growth factor-like (1);	0.000000	0.85682	D	0.000000	D	0.95717	0.8607	M	0.85099	2.735	0.80722	D	1	D	0.71674	0.998	D	0.75484	0.986	D	0.94111	0.7371	10	0.29301	T	0.29	.	19.7363	0.96205	0.0:0.0:1.0:0.0	.	1362	P98164	LRP2_HUMAN	N	1362	ENSP00000263816:H1362N	ENSP00000263816:H1362N	H	-	1	0	LRP2	169804493	1.000000	0.71417	0.895000	0.35142	0.785000	0.44390	9.807000	0.99171	2.652000	0.90054	0.650000	0.86243	CAC	LRP2	-	superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom	ENSG00000081479		0.383	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP2	HGNC	protein_coding	OTTHUMT00000255231.2		0.00	11	0	G	NM_004525		170096247	-1			no_errors	ENST00000263816	ensembl	human	known	74_37	missense	9.30	39	4	SNP	1.000	T
LRP4	4038	genome.wustl.edu	37	11	46890564	46890564	+	Silent	SNP	G	G	A			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr11:46890564G>A	ENST00000378623.1	-	32	5054	c.4812C>T	c.(4810-4812)atC>atT	p.I1604I	LRP4-AS1_ENST00000531719.1_RNA|LRP4-AS1_ENST00000502049.2_RNA	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1604					dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		GGGAAACCACGATGATATCCA	0.547																																																	0													254.0	211.0	226.0					11																	46890564		2201	4299	6500	SO:0001819	synonymous_variant	0			AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"""Low density lipoprotein receptors"""	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.4812C>T	11.37:g.46890564G>A			B2RN39|Q4AC85|Q5KTZ5	Silent	SNP	pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.I1604	ENST00000378623.1	37	c.4812	CCDS31478.1	11																																																																																			LRP4	-	NULL	ENSG00000134569		0.547	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP4	HGNC	protein_coding	OTTHUMT00000391133.1	-	0.00	12	0	G	NM_002334		46890564	-1	tier1	-	no_errors	ENST00000378623	ensembl	human	known	74_37	silent	24.49	37	12	SNP	0.995	A
LRRC16A	55604	genome.wustl.edu	37	6	25500404	25500404	+	Silent	SNP	T	T	C	rs371805264		TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr6:25500404T>C	ENST00000329474.6	+	17	1704	c.1336T>C	c.(1336-1338)Ttg>Ctg	p.L446L		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	446					actin filament organization (GO:0007015)|barbed-end actin filament uncapping (GO:0051638)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|lamellipodium assembly (GO:0030032)|negative regulation of barbed-end actin filament capping (GO:2000813)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of lamellipodium organization (GO:1902745)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|ruffle organization (GO:0031529)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|lamellipodium (GO:0030027)|nucleus (GO:0005634)	protein complex binding (GO:0032403)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						AGCACTGTTATTGGGCCTGGC	0.413																																																	0								T	,	2,3772		0,2,1885	159.0	145.0	150.0		1336,1336	-10.7	0.0	6		150	0,8238		0,0,4119	no	coding-synonymous,coding-synonymous	LRRC16A	NM_001173977.1,NM_017640.5	,	0,2,6004	CC,CT,TT		0.0,0.053,0.0167	,	446/1366,446/1372	25500404	2,12010	1887	4119	6006	SO:0001819	synonymous_variant	0			AK000055	CCDS54973.1	6p22.1	2010-09-10	2008-02-12	2008-02-12	ENSG00000079691	ENSG00000079691			21581	protein-coding gene	gene with protein product	"""capping protein, Arp2/3, and Myosin-I Linker homolog 1 (Dictyostelium)"""	609593	"""leucine rich repeat containing 16"""	LRRC16		19846667	Standard	NM_017640		Approved	dJ501N12.1, FLJ20048, CARMIL, CARMIL1	uc011djw.2	Q5VZK9	OTTHUMG00000014393	ENST00000329474.6:c.1336T>C	6.37:g.25500404T>C			B8X1J0|Q6ZUH5|Q6ZW07|Q9NXU7	Silent	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.L446	ENST00000329474.6	37	c.1336	CCDS54973.1	6																																																																																			LRRC16A	-	NULL	ENSG00000079691		0.413	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	LRRC16A	HGNC	protein_coding	OTTHUMT00000040045.2	-	0.00	26	0	T	NM_017640		25500404	+1	tier1	-	no_errors	ENST00000329474	ensembl	human	novel	74_37	silent	19.59	119	29	SNP	0.003	C
RAD54L	8438	genome.wustl.edu	37	1	46726876	46726877	+	Intron	INS	-	-	T	rs559518408|rs374305648|rs61239976	byFrequency	TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr1:46726876_46726877insT	ENST00000371975.4	+	8	1440				RAD54L_ENST00000473251.1_Intron|RAD54L_ENST00000442598.1_Intron	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)						chromosome organization (GO:0051276)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|meiotic nuclear division (GO:0007126)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		TGTTTTTTTTGTTTTTTTTTTT	0.366								Direct reversal of damage;Homologous recombination																																									0																																										SO:0001627	intron_variant	0			X97795	CCDS532.1	1p32	2008-02-05	2001-11-28		ENSG00000085999	ENSG00000085999			9826	protein-coding gene	gene with protein product		603615	"""RAD54 (S.cerevisiae)-like"""			8805304	Standard	NM_003579		Approved	hHR54, hRAD54, RAD54A	uc009vye.2	Q92698	OTTHUMG00000007772	ENST00000371975.4:c.767-56->T	1.37:g.46726887_46726887dupT			Q5TE31|Q6IUY3	RNA	INS	-	NULL	ENST00000371975.4	37	NULL	CCDS532.1	1																																																																																			LRRC41	-	-	ENSG00000132128		0.366	RAD54L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC41	HGNC	protein_coding	OTTHUMT00000021272.1		0.00	17	0	-	NM_003579		46726877	-1	tier1		no_errors	ENST00000496156	ensembl	human	known	74_37	rna	11.67	53	7	INS	0.000:0.001	T
LRWD1	222229	genome.wustl.edu	37	7	102109466	102109466	+	Silent	SNP	C	C	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr7:102109466C>T	ENST00000292616.5	+	9	1337	c.1185C>T	c.(1183-1185)atC>atT	p.I395I	MIR4467_ENST00000578629.1_RNA	NM_152892.1	NP_690852.1	Q9UFC0	LRWD1_HUMAN	leucine-rich repeats and WD repeat domain containing 1	395					chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|DNA replication initiation (GO:0006270)|establishment of protein localization to chromatin (GO:0071169)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nuclear origin of replication recognition complex (GO:0005664)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|telomeric heterochromatin (GO:0031933)	chromatin binding (GO:0003682)|methyl-CpG binding (GO:0008327)|methylated histone binding (GO:0035064)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|stomach(2)	20						AGAAGGCCATCGCCACCCTGT	0.692																																																	0													30.0	31.0	31.0					7																	102109466		2203	4300	6503	SO:0001819	synonymous_variant	0			AL133057	CCDS34715.1	7q22.1	2013-01-10			ENSG00000161036	ENSG00000161036		"""WD repeat domain containing"""	21769	protein-coding gene	gene with protein product	"""origin recognition complex associated"", ""centromere protein 33"""	615167				20932478, 20850016, 20180869	Standard	NM_152892		Approved	DKFZp434K1815, ORCA, CENP-33	uc003uzn.3	Q9UFC0	OTTHUMG00000157718	ENST00000292616.5:c.1185C>T	7.37:g.102109466C>T			A8K4K2|B2R9G2|Q8N0T9|Q8WV43|Q96GJ2	Silent	SNP	pfam_WD40_repeat,pfam_Leu-rich_rpt,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.I395	ENST00000292616.5	37	c.1185	CCDS34715.1	7	.	.	.	.	.	.	.	.	.	.	C	9.944	1.218194	0.22373	.	.	ENSG00000161036	ENST00000488689	.	.	.	4.71	-7.02	0.01589	.	.	.	.	.	T	0.46658	0.1404	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49570	-0.8926	4	.	.	.	-19.5022	6.7438	0.23451	0.1019:0.1338:0.1011:0.6632	.	.	.	.	L	24	.	.	S	+	2	0	LRWD1	101896471	0.000000	0.05858	0.747000	0.31113	0.954000	0.61252	-2.725000	0.00808	-1.512000	0.01791	-0.658000	0.03865	TCG	LRWD1	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000161036		0.692	LRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRWD1	HGNC	protein_coding	OTTHUMT00000349493.1	-	0.00	34	0	C	NM_152892		102109466	+1	tier1	-	no_errors	ENST00000292616	ensembl	human	known	74_37	silent	22.22	70	20	SNP	0.143	T
LTBP3	4054	genome.wustl.edu	37	11	65307039	65307039	+	Missense_Mutation	SNP	A	A	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr11:65307039A>T	ENST00000301873.5	-	26	3876	c.3608T>A	c.(3607-3609)cTg>cAg	p.L1203Q	LTBP3_ENST00000536982.1_Missense_Mutation_p.L782Q|LTBP3_ENST00000322147.4_Missense_Mutation_p.L1156Q|LTBP3_ENST00000530785.1_Missense_Mutation_p.L206Q|LTBP3_ENST00000532932.1_Missense_Mutation_p.L633Q|LTBP3_ENST00000529189.1_Missense_Mutation_p.L159Q	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	1203					bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|extracellular matrix organization (GO:0030198)|lung saccule development (GO:0060430)|negative regulation of bone mineralization (GO:0030502)|negative regulation of chondrocyte differentiation (GO:0032331)|positive regulation of bone resorption (GO:0045780)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of mesenchymal stem cell proliferation (GO:1902462)|transforming growth factor beta activation (GO:0036363)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						CTTCCCCAACAGCAGGGGGCT	0.647																																																	0													35.0	44.0	41.0					11																	65307039		2201	4297	6498	SO:0001583	missense	0			AF135960	CCDS8103.1, CCDS44647.1	11q12	2011-10-20			ENSG00000168056	ENSG00000168056		"""Latent transforming growth factor, beta binding proteins"""	6716	protein-coding gene	gene with protein product		602090		LTBP2		7719025	Standard	NM_001164266		Approved		uc001oej.3	Q9NS15	OTTHUMG00000166575	ENST00000301873.5:c.3608T>A	11.37:g.65307039A>T	ENSP00000301873:p.Leu1203Gln		O15107|Q96HB9|Q9H7K2|Q9UFN4	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.L1203Q	ENST00000301873.5	37	c.3608	CCDS44647.1	11	.	.	.	.	.	.	.	.	.	.	A	13.77	2.335338	0.41398	.	.	ENSG00000168056	ENST00000301874;ENST00000322147;ENST00000301873;ENST00000530785;ENST00000529189;ENST00000532932;ENST00000536982;ENST00000532661;ENST00000529371;ENST00000530866	T;D;T;T;D;T;T;T;D	0.82619	-1.47;-1.56;-1.38;-0.47;-1.55;-1.42;-1.11;1.0;-1.63	4.34	4.34	0.51931	Matrix fibril-associated (1);	0.192074	0.44285	D	0.000463	T	0.67277	0.2876	N	0.08118	0	0.25314	N	0.989171	P;P;P;P;P;P;P	0.46395	0.8;0.545;0.641;0.877;0.846;0.664;0.61	P;B;B;B;B;B;B	0.45037	0.467;0.221;0.202;0.276;0.367;0.143;0.205	T	0.59209	-0.7497	10	0.29301	T	0.29	.	7.2492	0.26140	0.8024:0.0:0.0:0.1976	.	1114;782;1039;1203;1156;633;782	E9PKW1;F5GWC4;B9EG76;Q9NS15;Q9NS15-2;E9PJR2;B4DQL8	.;.;.;LTBP3_HUMAN;.;.;.	Q	206;1156;1203;206;159;633;782;159;76;1114	ENSP00000326647:L1156Q;ENSP00000301873:L1203Q;ENSP00000434315:L206Q;ENSP00000434406:L159Q;ENSP00000435530:L633Q;ENSP00000441912:L782Q;ENSP00000436341:L159Q;ENSP00000436032:L76Q;ENSP00000435276:L1114Q	ENSP00000301873:L1203Q	L	-	2	0	LTBP3	65063615	0.276000	0.24211	0.994000	0.49952	0.903000	0.53119	2.818000	0.48041	1.600000	0.50102	0.402000	0.26972	CTG	LTBP3	-	superfamily_TB_dom	ENSG00000168056		0.647	LTBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LTBP3	HGNC	protein_coding	OTTHUMT00000390538.1	-	0.00	12	0	A	NM_021070		65307039	-1	tier1	-	no_errors	ENST00000301873	ensembl	human	known	74_37	missense	14.52	53	9	SNP	0.578	T
MAGEE2	139599	genome.wustl.edu	37	X	75003938	75003938	+	Missense_Mutation	SNP	C	C	A			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chrX:75003938C>A	ENST00000373359.2	-	1	1141	c.949G>T	c.(949-951)Gat>Tat	p.D317Y		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	317	MAGE 2. {ECO:0000255|PROSITE- ProRule:PRU00127}.									autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TGGACCAAATCATTTGCCTTA	0.448																																																	0													97.0	82.0	87.0					X																	75003938		2203	4300	6503	SO:0001583	missense	0			AF490509	CCDS14431.1	Xq13	2008-02-05			ENSG00000186675	ENSG00000186675			24935	protein-coding gene	gene with protein product		300760				11454705	Standard	NM_138703		Approved	HCA3	uc004ecj.2	Q8TD90	OTTHUMG00000021870	ENST00000373359.2:c.949G>T	X.37:g.75003938C>A	ENSP00000362457:p.Asp317Tyr		Q5JSI5	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.D317Y	ENST00000373359.2	37	c.949	CCDS14431.1	X	.	.	.	.	.	.	.	.	.	.	C	13.44	2.236665	0.39498	.	.	ENSG00000186675	ENST00000373359	T	0.04015	3.73	2.76	2.76	0.32466	.	.	.	.	.	T	0.10594	0.0259	L	0.55481	1.735	0.27711	N	0.945465	D	0.65815	0.995	P	0.55011	0.766	T	0.08911	-1.0699	9	0.46703	T	0.11	.	8.1526	0.31150	0.0:1.0:0.0:0.0	.	317	Q8TD90	MAGE2_HUMAN	Y	317	ENSP00000362457:D317Y	ENSP00000362457:D317Y	D	-	1	0	MAGEE2	74920663	1.000000	0.71417	1.000000	0.80357	0.790000	0.44656	2.078000	0.41567	1.638000	0.50547	0.422000	0.28245	GAT	MAGEE2	-	pfscan_MAGE	ENSG00000186675		0.448	MAGEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEE2	HGNC	protein_coding	OTTHUMT00000057288.1	-	0.00	9	0	C	NM_138703		75003938	-1	tier1	-	no_errors	ENST00000373359	ensembl	human	known	74_37	missense	65.52	10	19	SNP	1.000	A
MAGEE2	139599	genome.wustl.edu	37	X	75004272	75004272	+	Missense_Mutation	SNP	T	T	G			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chrX:75004272T>G	ENST00000373359.2	-	1	807	c.615A>C	c.(613-615)aaA>aaC	p.K205N		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	205	MAGE 1. {ECO:0000255|PROSITE- ProRule:PRU00127}.									autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						ACATATCAACTTTTAGCAGCA	0.493																																																	0													73.0	66.0	68.0					X																	75004272		2203	4300	6503	SO:0001583	missense	0			AF490509	CCDS14431.1	Xq13	2008-02-05			ENSG00000186675	ENSG00000186675			24935	protein-coding gene	gene with protein product		300760				11454705	Standard	NM_138703		Approved	HCA3	uc004ecj.2	Q8TD90	OTTHUMG00000021870	ENST00000373359.2:c.615A>C	X.37:g.75004272T>G	ENSP00000362457:p.Lys205Asn		Q5JSI5	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.K205N	ENST00000373359.2	37	c.615	CCDS14431.1	X	.	.	.	.	.	.	.	.	.	.	T	7.836	0.720926	0.15372	.	.	ENSG00000186675	ENST00000373359	T	0.05382	3.45	2.96	0.931	0.19460	.	.	.	.	.	T	0.09862	0.0242	L	0.29908	0.895	0.09310	N	1	D	0.71674	0.998	D	0.76575	0.988	T	0.31194	-0.9952	9	0.14252	T	0.57	.	4.5747	0.12226	0.0:0.6306:0.0:0.3694	.	205	Q8TD90	MAGE2_HUMAN	N	205	ENSP00000362457:K205N	ENSP00000362457:K205N	K	-	3	2	MAGEE2	74920997	0.972000	0.33761	0.002000	0.10522	0.098000	0.18820	0.208000	0.17415	0.100000	0.17581	0.345000	0.21793	AAA	MAGEE2	-	pfam_MAGE,pfscan_MAGE	ENSG00000186675		0.493	MAGEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEE2	HGNC	protein_coding	OTTHUMT00000057288.1	-	0.00	8	0	T	NM_138703		75004272	-1	tier1	-	no_errors	ENST00000373359	ensembl	human	known	74_37	missense	30.77	9	4	SNP	0.002	G
MAGEA12	4111	genome.wustl.edu	37	X	151900213	151900213	+	Silent	SNP	C	C	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chrX:151900213C>T	ENST00000357916.4	-	2	743	c.588G>A	c.(586-588)gtG>gtA	p.V196V	CSAG4_ENST00000361201.4_RNA|MAGEA12_ENST00000393900.3_Silent_p.V196V|MAGEA12_ENST00000393869.3_Silent_p.V196V	NM_005367.5	NP_005358.2	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	196	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					CTGTCTTGGGCACGATCTGAT	0.582																																																	0													149.0	142.0	144.0					X																	151900213		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS76048.1	Xq28	2009-03-13			ENSG00000213401	ENSG00000213401			6799	protein-coding gene	gene with protein product	"""cancer/testis antigen family 1, member 12"""	300177		MAGE12		8575766	Standard	NM_001166386		Approved	CT1.12	uc004fgc.3	P43365	OTTHUMG00000022650	ENST00000357916.4:c.588G>A	X.37:g.151900213C>T			Q9NSD3	Silent	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.V196	ENST00000357916.4	37	c.588	CCDS14710.1	X																																																																																			MAGEA12	-	pfam_MAGE,pfscan_MAGE	ENSG00000213401		0.582	MAGEA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEA12	HGNC	protein_coding	OTTHUMT00000058764.1	-	0.00	29	0	C	NM_005367		151900213	-1	tier1	-	no_errors	ENST00000357916	ensembl	human	known	74_37	silent	70.30	30	71	SNP	0.042	T
MAPK8IP3	23162	genome.wustl.edu	37	16	1779535	1779535	+	Silent	SNP	G	G	A			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr16:1779535G>A	ENST00000250894.4	+	4	715	c.558G>A	c.(556-558)caG>caA	p.Q186Q	MAPK8IP3_ENST00000356010.5_Silent_p.Q186Q	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	186					activation of JUN kinase activity (GO:0007257)|axon guidance (GO:0007411)|forebrain development (GO:0030900)|in utero embryonic development (GO:0001701)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|positive regulation of neuron differentiation (GO:0045666)|post-embryonic development (GO:0009791)|protein localization (GO:0008104)|regulation of gene expression (GO:0010468)|regulation of JNK cascade (GO:0046328)|respiratory gaseous exchange (GO:0007585)|vesicle-mediated transport (GO:0016192)	axolemma (GO:0030673)|dendrite (GO:0030425)|Golgi membrane (GO:0000139)|smooth endoplasmic reticulum (GO:0005790)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						AGATGCAGCAGGTCGGAGGAA	0.687																																																	0													34.0	38.0	36.0					16																	1779535		2021	4180	6201	SO:0001819	synonymous_variant	0			AB028989	CCDS10442.2, CCDS45379.1	16p13.3	2009-11-23			ENSG00000138834	ENSG00000138834			6884	protein-coding gene	gene with protein product	"""homolog of Drosophila Sunday driver 2"""	605431				10523642, 10629060	Standard	XM_005255187		Approved	KIAA1066, JSAP1, JIP3, syd	uc002cmk.3	Q9UPT6	OTTHUMG00000128637	ENST00000250894.4:c.558G>A	16.37:g.1779535G>A			A2A2B3|A7E2B3|Q96RY4|Q9H4I4|Q9H7P1|Q9NUG0	Silent	SNP	pfam_JNK/Rab-associated_protein-1_N,superfamily_WD40_repeat_dom	p.Q186	ENST00000250894.4	37	c.558	CCDS10442.2	16																																																																																			MAPK8IP3	-	pfam_JNK/Rab-associated_protein-1_N	ENSG00000138834		0.687	MAPK8IP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPK8IP3	HGNC	protein_coding	OTTHUMT00000250508.2	-	0.00	24	0	G	NM_001040439		1779535	+1	tier1	-	no_errors	ENST00000250894	ensembl	human	known	74_37	silent	21.18	67	18	SNP	0.991	A
MC3R	4159	genome.wustl.edu	37	20	54824550	54824550	+	Silent	SNP	C	C	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr20:54824550C>T	ENST00000243911.2	+	1	763	c.651C>T	c.(649-651)caC>caT	p.H217H		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	217					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|homoiothermy (GO:0042309)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP biosynthetic process (GO:0030819)|regulation of blood pressure (GO:0008217)|regulation of heart rate (GO:0002027)|sodium ion homeostasis (GO:0055078)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			CGCGGCTGCACGTCAAGCGCA	0.577																																																	0													188.0	133.0	152.0					20																	54824550		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS13449.2	20q13.2-q13.3	2012-08-10			ENSG00000124089	ENSG00000124089		"""GPCR / Class A : Melanocortin receptors"""	6931	protein-coding gene	gene with protein product		155540				8463333	Standard	NM_019888		Approved	MC3	uc002xxb.2	P41968	OTTHUMG00000032785	ENST00000243911.2:c.651C>T	20.37:g.54824550C>T			Q4KN27|Q9H517	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Melcrt_ACTH_rcpt,prints_Mcort_3_rcpt,prints_GPCR_Rhodpsn,prints_Melancort_rcpt	p.H217	ENST00000243911.2	37	c.651	CCDS13449.2	20																																																																																			MC3R	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Melancort_rcpt	ENSG00000124089		0.577	MC3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MC3R	HGNC	protein_coding	OTTHUMT00000079786.2	-	0.00	18	0	C			54824550	+1	tier1	-	no_errors	ENST00000243911	ensembl	human	known	74_37	silent	33.87	41	21	SNP	1.000	T
MEX3C	51320	genome.wustl.edu	37	18	48703718	48703718	+	5'UTR	SNP	G	G	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr18:48703718G>T	ENST00000591040.1	-	0	271							Q5U5Q3	MEX3C_HUMAN	mex-3 RNA binding family member C						chondrocyte hypertrophy (GO:0003415)|energy homeostasis (GO:0097009)|regulation of fat cell differentiation (GO:0045598)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|skin(1)	17		Colorectal(6;0.003)|all_epithelial(6;0.0473)		Colorectal(16;0.0175)|READ - Rectum adenocarcinoma(32;0.15)		GACTTGGACGGTGGTTTGACC	0.488																																																	0													99.0	85.0	90.0					18																	48703718		2203	4300	6503	SO:0001623	5_prime_UTR_variant	0			BC041122	CCDS11951.2	18q21.1	2013-08-21	2013-08-21	2007-07-18	ENSG00000176624	ENSG00000176624		"""RING-type (C3HC4) zinc fingers"", ""Mex-3 homologs"""	28040	protein-coding gene	gene with protein product		611005	"""ring finger and KH domain containing 2"", ""mex-3 homolog C (C. elegans)"""	RKHD2		17267406	Standard	NM_016626		Approved	FLJ38871, RNF194	uc002lfc.4	Q5U5Q3	OTTHUMG00000132693	ENST00000591040.1:c.-528C>A	18.37:g.48703718G>T			A1L022|Q9NZE3	Missense_Mutation	SNP	pfam_KH_dom_type_1,smart_KH_dom,smart_Znf_RING,pfscan_Znf_RING,pfscan_KH_dom_type_1	p.T328N	ENST00000591040.1	37	c.983		18	.	.	.	.	.	.	.	.	.	.	G	22.4	4.287947	0.80803	.	.	ENSG00000176624	ENST00000406189	T	0.35421	1.31	5.97	5.97	0.96955	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.66982	0.2845	M	0.84683	2.71	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.70245	-0.4925	10	0.87932	D	0	-12.285	19.2102	0.93751	0.0:0.0:1.0:0.0	.	328	Q5U5Q3	MEX3C_HUMAN	N	328	ENSP00000385610:T328N	ENSP00000385610:T328N	T	-	2	0	MEX3C	46957716	1.000000	0.71417	0.999000	0.59377	0.946000	0.59487	9.869000	0.99810	2.836000	0.97738	0.655000	0.94253	ACC	MEX3C	-	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1	ENSG00000176624		0.488	MEX3C-003	KNOWN	mRNA_end_NF|basic	processed_transcript	MEX3C	HGNC	protein_coding	OTTHUMT00000449559.1	-	0.00	28	0	G	NM_016626		48703718	-1	tier1	-	no_errors	ENST00000406189	ensembl	human	known	74_37	missense	8.16	45	4	SNP	1.000	T
MIEN1	84299	genome.wustl.edu	37	17	37885787	37885787	+	Nonsense_Mutation	SNP	G	G	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr17:37885787G>T	ENST00000394231.3	-	4	627	c.336C>A	c.(334-336)tgC>tgA	p.C112*	ERBB2_ENST00000584888.1_Intron|MIEN1_ENST00000474210.1_5'UTR|MIEN1_ENST00000577810.1_3'UTR|MIR4728_ENST00000580969.1_RNA			Q9BRT3	MIEN1_HUMAN	migration and invasion enhancer 1	112					apoptotic process (GO:0006915)|cell redox homeostasis (GO:0045454)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell migration (GO:0030335)|positive regulation of filopodium assembly (GO:0051491)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	selenium binding (GO:0008430)										ACAGGATGACGCAGGGAGGAC	0.552																																																	0													216.0	201.0	206.0					17																	37885787		2203	4300	6503	SO:0001587	stop_gained	0			AJ308025	CCDS11344.1	17q12	2011-09-21	2011-09-21	2011-09-21	ENSG00000141741	ENSG00000141741			28230	protein-coding gene	gene with protein product		611802	"""chromosome 17 open reading frame 37"""	C17orf37		17121940, 12739007, 17503775, 21628459	Standard	NM_032339		Approved	MGC14832, ORB3, XTP4, C35, Rdx12	uc002hsq.3	Q9BRT3	OTTHUMG00000133252	ENST00000394231.3:c.336C>A	17.37:g.37885787G>T	ENSP00000377778:p.Cys112*			Nonsense_Mutation	SNP	pfam_Selenoprotein_Rdx-typ,superfamily_Thioredoxin-like_fold,tigrfam_Selenoprotein_Rdx-typ	p.C112*	ENST00000394231.3	37	c.336	CCDS11344.1	17	.	.	.	.	.	.	.	.	.	.	G	21.4	4.144066	0.77888	.	.	ENSG00000141741	ENST00000394231	.	.	.	5.98	-6.43	0.01926	.	0.051600	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.0738	16.9594	0.86268	0.7663:0.0:0.2337:0.0	.	.	.	.	X	112	.	ENSP00000377778:C112X	C	-	3	2	C17orf37	35139313	0.001000	0.12720	0.185000	0.23176	0.679000	0.39708	-0.294000	0.08309	-1.028000	0.03321	-0.929000	0.02709	TGC	MIEN1	-	NULL	ENSG00000141741		0.552	MIEN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIEN1	HGNC	protein_coding	OTTHUMT00000257020.3		0.00	22	0	G	NM_032339		37885787	-1			no_errors	ENST00000394231	ensembl	human	known	74_37	nonsense	6.17	76	5	SNP	0.576	T
PDZD2	23037	genome.wustl.edu	37	5	31936224	31936224	+	Intron	SNP	G	G	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr5:31936224G>T	ENST00000438447.1	+	3	864				PDZD2_ENST00000282493.3_Intron|MIR4279_ENST00000582091.1_RNA			O15018	PDZD2_HUMAN	PDZ domain containing 2						cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						AGGTGAAGCCGGGAGGAGAGA	0.522																																																	0																																										SO:0001627	intron_variant	0			AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.477-47037G>T	5.37:g.31936224G>T			Q9BXD4	RNA	SNP	-	NULL	ENST00000438447.1	37	NULL	CCDS34137.1	5																																																																																			MIR4279	-	-	ENSG00000266243		0.522	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIR4279	HGNC	protein_coding	OTTHUMT00000366608.1		0.00	12	0	G			31936224	-1			no_errors	ENST00000582091	ensembl	human	known	74_37	rna	5.00	76	4	SNP	0.003	T
MLIP	90523	genome.wustl.edu	37	6	54001550	54001550	+	Intron	SNP	G	G	A			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr6:54001550G>A	ENST00000274897.5	+	3	725				MLIP_ENST00000511744.1_3'UTR|MLIP_ENST00000370877.2_Intron|MLIP_ENST00000514921.1_Missense_Mutation_p.C217Y|MLIP_ENST00000370876.2_Intron|MLIP_ENST00000509997.1_Intron|MLIP_ENST00000502396.1_Missense_Mutation_p.C228Y|MLIP_ENST00000358276.5_Intron	NM_138569.2	NP_612636.2	Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein							nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|PML body (GO:0016605)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						CAGCTTGCCTGTAAACCACCT	0.443																																																	0																																										SO:0001627	intron_variant	0			AK055530	CCDS4954.1, CCDS64448.1, CCDS64449.1	6p12.2-p12.1	2011-04-29	2011-04-29	2011-04-29	ENSG00000146147	ENSG00000146147			21355	protein-coding gene	gene with protein product	"""muscle-enriched A-type lamin interacting protein"""	614106	"""chromosome 6 open reading frame 142"""	C6orf142		21498514	Standard	NM_138569		Approved	MGC18257	uc011dxa.2	Q5VWP3	OTTHUMG00000014891	ENST00000274897.5:c.612+11887G>A	6.37:g.54001550G>A			B7Z2N0|D6RE05|Q96H08|Q96NF7	Missense_Mutation	SNP	NULL	p.C228Y	ENST00000274897.5	37	c.683	CCDS4954.1	6	.	.	.	.	.	.	.	.	.	.	G	12.16	1.853809	0.32791	.	.	ENSG00000146147	ENST00000514921;ENST00000511678;ENST00000503951;ENST00000502396	T;T;T;T	0.51325	1.92;0.71;0.92;1.93	5.21	3.4	0.38934	.	.	.	.	.	T	0.20333	0.0489	.	.	.	0.80722	D	1	B;P;B	0.50617	0.009;0.937;0.009	B;P;B	0.44597	0.01;0.454;0.01	T	0.03433	-1.1037	8	0.24483	T	0.36	.	5.6176	0.17440	0.1861:0.175:0.6388:0.0	.	228;228;217	Q5VWP3-3;B7ZA42;D6RE05	.;.;.	Y	217;99;176;228	ENSP00000425142:C217Y;ENSP00000427057:C99Y;ENSP00000426830:C176Y;ENSP00000426290:C228Y	ENSP00000426290:C228Y	C	+	2	0	MLIP	54109509	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	1.236000	0.32683	0.559000	0.29153	0.655000	0.94253	TGT	MLIP	-	NULL	ENSG00000146147		0.443	MLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLIP	HGNC	protein_coding	OTTHUMT00000040979.3	-	0.00	10	0	G	NM_138569		54001550	+1	tier1	-	no_errors	ENST00000502396	ensembl	human	putative	74_37	missense	39.29	17	11	SNP	1.000	A
MLXIPL	51085	genome.wustl.edu	37	7	73008695	73008695	+	Missense_Mutation	SNP	G	G	T	rs185020196		TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr7:73008695G>T	ENST00000313375.3	-	16	2396	c.2349C>A	c.(2347-2349)aaC>aaA	p.N783K	MLXIPL_ENST00000354613.1_Missense_Mutation_p.N762K|MLXIPL_ENST00000395189.1_Missense_Mutation_p.N690K|MLXIPL_ENST00000414749.2_Missense_Mutation_p.N781K|MLXIPL_ENST00000434326.1_Missense_Mutation_p.N689K|MLXIPL_ENST00000429400.2_Missense_Mutation_p.N764K	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	MLXPL_HUMAN	MLX interacting protein-like	783					anatomical structure morphogenesis (GO:0009653)|energy reserve metabolic process (GO:0006112)|fatty acid homeostasis (GO:0055089)|glucose homeostasis (GO:0042593)|glucose mediated signaling pathway (GO:0010255)|intracellular signal transduction (GO:0035556)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of oxidative phosphorylation (GO:0090324)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular metabolic process (GO:0031325)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of glycolytic process (GO:0045821)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of energy homeostasis (GO:2000505)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride homeostasis (GO:0070328)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	carbohydrate response element binding (GO:0035538)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				ACACCATCCCGTTGAAGGACT	0.637																																																	0													75.0	68.0	70.0					7																	73008695		2203	4300	6503	SO:0001583	missense	0			AK055029	CCDS5553.1, CCDS5554.1, CCDS47605.1, CCDS47606.1	7q11.23	2013-05-21	2005-10-31	2005-10-31	ENSG00000009950	ENSG00000009950			12744	protein-coding gene	gene with protein product	"""carbohydrate response element binding protein"""	605678	"""Williams Beuren syndrome chromosome region 14"""	WBSCR14		9860302	Standard	XM_005250399		Approved	WS-bHLH, MIO, CHREBP, MONDOB, bHLHd14	uc003tyn.1	Q9NP71	OTTHUMG00000129995	ENST00000313375.3:c.2349C>A	7.37:g.73008695G>T	ENSP00000320886:p.Asn783Lys		C5HU02|C5HU03|C5HU04|Q96E48|Q9BY03|Q9BY04|Q9BY05|Q9BY06|Q9Y2P3	Missense_Mutation	SNP	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.N783K	ENST00000313375.3	37	c.2349	CCDS5553.1	7	.	.	.	.	.	.	.	.	.	.	G	1.990	-0.432092	0.04669	.	.	ENSG00000009950	ENST00000414749;ENST00000429400;ENST00000313375;ENST00000354613;ENST00000395189;ENST00000434326	T;T;T;T;T;T	0.25414	2.35;2.34;2.38;2.32;1.8;1.81	4.23	-3.65	0.04502	.	0.062756	0.64402	D	0.000012	T	0.28896	0.0717	L	0.45137	1.4	0.31241	N	0.695113	P;D;D;B;B	0.69078	0.797;0.997;0.996;0.355;0.355	B;P;P;B;B	0.60789	0.389;0.761;0.879;0.362;0.362	T	0.37079	-0.9721	10	0.13853	T	0.58	-18.2741	11.7915	0.52072	0.3239:0.0:0.6761:0.0	.	690;783;764;781;762	Q9NP71-6;Q9NP71;Q9NP71-2;Q9NP71-3;Q9NP71-4	.;MLXPL_HUMAN;.;.;.	K	781;764;783;762;690;689	ENSP00000412330:N781K;ENSP00000406296:N764K;ENSP00000320886:N783K;ENSP00000346629:N762K;ENSP00000378616:N690K;ENSP00000392636:N689K	ENSP00000320886:N783K	N	-	3	2	MLXIPL	72646631	0.009000	0.17119	0.987000	0.45799	0.932000	0.56968	-0.772000	0.04694	-0.567000	0.06046	-0.367000	0.07326	AAC	MLXIPL	-	NULL	ENSG00000009950		0.637	MLXIPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MLXIPL	HGNC	protein_coding	OTTHUMT00000252262.1		0.00	16	0	G	NM_032951		73008695	-1			no_errors	ENST00000313375	ensembl	human	known	74_37	missense	8.82	31	3	SNP	0.978	T
MMP9	4318	genome.wustl.edu	37	20	44641948	44641948	+	Missense_Mutation	SNP	C	C	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr20:44641948C>T	ENST00000372330.3	+	9	1404	c.1385C>T	c.(1384-1386)aCg>aTg	p.T462M	RP11-465L10.10_ENST00000535913.1_RNA	NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	462					collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|macrophage differentiation (GO:0030225)|negative regulation of cation channel activity (GO:2001258)|ossification (GO:0001503)|positive regulation of apoptotic process (GO:0043065)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of receptor binding (GO:1900122)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)|identical protein binding (GO:0042802)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.T462M(1)		breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Captopril(DB01197)|Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)	CCGCAGCCCACGGCTCCCCCG	0.672											OREG0025990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - Missense(1)	large_intestine(1)											52.0	69.0	63.0					20																	44641948		2187	4274	6461	SO:0001583	missense	0				CCDS13390.1	20q12-q13	2008-01-07	2005-08-08		ENSG00000100985	ENSG00000100985	3.4.24.35		7176	protein-coding gene	gene with protein product		120361	"""matrix metalloproteinase 9 (gelatinase B, 92kD gelatinase, 92kD type IV collagenase)"", ""matrix metalloproteinase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)"""	CLG4B		2158484	Standard	NM_004994		Approved		uc002xqz.3	P14780	OTTHUMG00000033044	ENST00000372330.3:c.1385C>T	20.37:g.44641948C>T	ENSP00000361405:p.Thr462Met	925	B2R7V9|Q3LR70|Q8N725|Q9H4Z1|Q9UCJ9|Q9UCL1|Q9UDK2	Missense_Mutation	SNP	pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,pfam_Hemopexin-like_repeat,pfam_PT,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Kringle-like,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,smart_Hemopexin-like_repeat,pfscan_FN_type2_col-bd,prints_Pept_M10A	p.T462M	ENST00000372330.3	37	c.1385	CCDS13390.1	20	.	.	.	.	.	.	.	.	.	.	C	13.09	2.134580	0.37630	.	.	ENSG00000100985	ENST00000372330;ENST00000545925	T	0.22743	1.94	5.0	3.07	0.35406	.	4.226240	0.00597	N	0.000375	T	0.12689	0.0308	N	0.08118	0	0.09310	N	0.999999	P	0.34587	0.458	B	0.25614	0.062	T	0.28396	-1.0045	10	0.87932	D	0	.	8.7932	0.34863	0.0:0.8244:0.0:0.1756	.	462	P14780	MMP9_HUMAN	M	462;107	ENSP00000361405:T462M	ENSP00000361405:T462M	T	+	2	0	MMP9	44075355	0.350000	0.24878	0.019000	0.16419	0.259000	0.26198	1.957000	0.40392	0.695000	0.31675	-0.136000	0.14681	ACG	MMP9	-	NULL	ENSG00000100985		0.672	MMP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP9	HGNC	protein_coding	OTTHUMT00000080337.1		0.00	21	0	C			44641948	+1			no_errors	ENST00000372330	ensembl	human	known	74_37	missense	8.42	87	8	SNP	0.077	T
MMS22L	253714	genome.wustl.edu	37	6	97609916	97609916	+	Missense_Mutation	SNP	C	C	G			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr6:97609916C>G	ENST00000275053.4	-	22	3612	c.3347G>C	c.(3346-3348)gGc>gCc	p.G1116A	MMS22L_ENST00000369251.2_Missense_Mutation_p.G1076A	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	1116					double-strand break repair via homologous recombination (GO:0000724)|replication fork processing (GO:0031297)	nuclear replication fork (GO:0043596)				breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						TTTTAAAATGCCAGGGAGGAG	0.388																																																	0													106.0	103.0	104.0					6																	97609916		2203	4300	6503	SO:0001583	missense	0				CCDS5039.1	6q16.3	2010-11-11	2010-11-11	2010-11-11	ENSG00000146263	ENSG00000146263			21475	protein-coding gene	gene with protein product		615614	"""chromosome 6 open reading frame 167"""	C6orf167		21055983, 21055984	Standard	NM_198468		Approved	dJ39B17.2	uc003ppb.3	Q6ZRQ5	OTTHUMG00000015248	ENST00000275053.4:c.3347G>C	6.37:g.97609916C>G	ENSP00000275053:p.Gly1116Ala		D6R9Y8|D6RBQ4|E1P529|Q5THT2|Q68CQ6|Q68D32	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.G1116A	ENST00000275053.4	37	c.3347	CCDS5039.1	6	.	.	.	.	.	.	.	.	.	.	C	2.713	-0.268387	0.05716	.	.	ENSG00000146263	ENST00000275053;ENST00000369251	T;T	0.27720	1.65;1.65	5.87	3.97	0.46021	.	0.277047	0.39909	N	0.001240	T	0.06826	0.0174	L	0.27053	0.805	0.09310	N	1	B;B	0.18310	0.027;0.013	B;B	0.16289	0.015;0.007	T	0.34551	-0.9824	10	0.02654	T	1	-15.3771	15.0462	0.71830	0.0:0.499:0.501:0.0	.	1076;1116	E2QRD4;Q6ZRQ5	.;MMS22_HUMAN	A	1116;1076	ENSP00000275053:G1116A;ENSP00000358254:G1076A	ENSP00000275053:G1116A	G	-	2	0	MMS22L	97716637	0.029000	0.19370	0.771000	0.31576	0.962000	0.63368	1.082000	0.30803	1.470000	0.48102	0.650000	0.86243	GGC	MMS22L	-	superfamily_ARM-type_fold	ENSG00000146263		0.388	MMS22L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMS22L	HGNC	protein_coding	OTTHUMT00000041573.3		0.00	13	0	C	NM_198468		97609916	-1			no_errors	ENST00000275053	ensembl	human	known	74_37	missense	11.76	60	8	SNP	0.117	G
MT-CO2	4513	genome.wustl.edu	37	M	7887	7887	+	Missense_Mutation	SNP	G	G	A			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chrM:7887G>A	ENST00000361739.1	+	1	302	c.302G>A	c.(301-303)gGc>gAc	p.G101D	MT-ND4_ENST00000361381.2_5'Flank|MT-TC_ENST00000387405.1_RNA|MT-TR_ENST00000387439.1_RNA|MT-TY_ENST00000387409.1_RNA|MT-ND3_ENST00000361227.2_5'Flank|MT-TA_ENST00000387392.1_RNA|MT-TD_ENST00000387419.1_RNA|MT-CO3_ENST00000362079.2_5'Flank|MT-ND4L_ENST00000361335.1_5'Flank|MT-TK_ENST00000387421.1_RNA|MT-TG_ENST00000387429.1_RNA|MT-ATP8_ENST00000361851.1_5'Flank|MT-ATP6_ENST00000361899.2_5'Flank|MT-TW_ENST00000387382.1_RNA|MT-TN_ENST00000387400.1_RNA|MT-TS1_ENST00000387416.2_RNA			P00403	COX2_HUMAN	mitochondrially encoded cytochrome c oxidase II	101					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, cytochrome c to oxygen (GO:0006123)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|respiratory chain complex IV (GO:0045277)	copper ion binding (GO:0005507)|cytochrome-c oxidase activity (GO:0004129)			endometrium(5)|kidney(8)|lung(2)|pancreas(3)|prostate(1)	19						CAAATCAATTGGCCACCAATG	0.522																																																	0																																										SO:0001583	missense	0					mitochondria	2012-11-16	2005-02-15	2005-02-16	ENSG00000198712	ENSG00000198712		"""Mitochondrial respiratory chain complex / Complex IV"""	7421	protein-coding gene	gene with protein product		516040	"""cytochrome c oxidase II"""	MTCO2		1712754, 1989603	Standard			Approved	COX2, CO2		P00403		ENST00000361739.1:c.302G>A	M.37:g.7887G>A	ENSP00000354876:p.Gly101Asp		Q37526	Missense_Mutation	SNP	pfam_Cyt_c_oxidase_su2_C,pfam_Cyt_c_oxidase_su2_TM_dom,superfamily_Cupredoxin,superfamily_Cyt_c_oxidase_su2_TM_dom,pfscan_Cyt_c_oxidase_su2_TM_dom,pfscan_Cyt_c_oxidase_su2_C,tigrfam_Cyt_c_oxidase_su2	p.G101D	ENST00000361739.1	37	c.302		MT																																																																																			MT-CO2	-	pfam_Cyt_c_oxidase_su2_C,superfamily_Cupredoxin,pfscan_Cyt_c_oxidase_su2_C,tigrfam_Cyt_c_oxidase_su2	ENSG00000198712		0.522	MT-CO2-201	KNOWN	basic|appris_principal	protein_coding	MT-CO2	HGNC	protein_coding		-	0.00	120	0	G	YP_003024029		7887	+1	tier1	-	no_errors	ENST00000361739	ensembl	human	known	74_37	missense	8.87	667	65	SNP	NULL	A
MYLIP	29116	genome.wustl.edu	37	6	16130975	16130975	+	Missense_Mutation	SNP	C	C	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr6:16130975C>T	ENST00000356840.3	+	2	473	c.275C>T	c.(274-276)aCt>aTt	p.T92I	MYLIP_ENST00000349606.4_Intron	NM_013262.3	NP_037394.2	Q8WY64	MYLIP_HUMAN	myosin regulatory light chain interacting protein	92	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cellular component movement (GO:0006928)|cholesterol homeostasis (GO:0042632)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|nervous system development (GO:0007399)|positive regulation of protein catabolic process (GO:0045732)|protein destabilization (GO:0031648)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of low-density lipoprotein particle receptor catabolic process (GO:0032803)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	cytoskeletal protein binding (GO:0008092)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.241)			CAGGAGCAGACTAGGTAAAGT	0.468																																																	0													63.0	59.0	60.0					6																	16130975		2203	4300	6503	SO:0001583	missense	0			AF187016	CCDS4536.1	6p23-p22.3	2011-11-17			ENSG00000007944	ENSG00000007944			21155	protein-coding gene	gene with protein product	"""E3 ubiquitin ligase-inducible degrader of the low density lipoprotein receptor"""	610082				10593918, 11162443, 19688294	Standard	NM_013262		Approved	MIR, IDOL	uc003nbq.3	Q8WY64	OTTHUMG00000016405	ENST00000356840.3:c.275C>T	6.37:g.16130975C>T	ENSP00000349298:p.Thr92Ile		Q5TIA4|Q9BU73|Q9NRL9|Q9UHE7	Missense_Mutation	SNP	pfam_FERM_N,pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,pfscan_Znf_RING,prints_Band_41_fam,prints_Ez/rad/moesin_like	p.T92I	ENST00000356840.3	37	c.275	CCDS4536.1	6	.	.	.	.	.	.	.	.	.	.	C	32	5.166304	0.94768	.	.	ENSG00000007944	ENST00000356840	T	0.36157	1.27	5.69	5.69	0.88448	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.000000	0.85682	D	0.000000	T	0.67439	0.2893	M	0.92367	3.3	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.74668	-0.3588	10	0.87932	D	0	.	20.181	0.98201	0.0:1.0:0.0:0.0	.	92	Q8WY64	MYLIP_HUMAN	I	92	ENSP00000349298:T92I	ENSP00000349298:T92I	T	+	2	0	MYLIP	16238954	1.000000	0.71417	0.983000	0.44433	0.997000	0.91878	7.651000	0.83577	2.840000	0.97914	0.655000	0.94253	ACT	MYLIP	-	pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain	ENSG00000007944		0.468	MYLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYLIP	HGNC	protein_coding	OTTHUMT00000043864.1	-	0.00	15	0	C	NM_013262		16130975	+1	tier1	-	no_errors	ENST00000356840	ensembl	human	known	74_37	missense	30.16	44	19	SNP	1.000	T
MYOM1	8736	genome.wustl.edu	37	18	3188780	3188780	+	Missense_Mutation	SNP	C	C	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr18:3188780C>T	ENST00000356443.4	-	4	1070	c.737G>A	c.(736-738)cGa>cAa	p.R246Q	RP13-270P17.2_ENST00000580139.1_RNA|MYOM1_ENST00000400569.3_Missense_Mutation_p.R246Q|MYOM1_ENST00000261606.7_Missense_Mutation_p.R246Q	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	246					muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TGCCTTTTCTCGAATCACAAC	0.453																																																	0													93.0	87.0	89.0					18																	3188780		1944	4137	6081	SO:0001583	missense	0			AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7613	protein-coding gene	gene with protein product	"""skelemin"""	603508	"""myomesin 1 (skelemin) (185kD)"", ""myomesin 1 (skelemin) 185kDa"", ""myomesin 1, 185kDa"""			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.737G>A	18.37:g.3188780C>T	ENSP00000348821:p.Arg246Gln		Q14BD6|Q6H969|Q6ZUU0	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.R246Q	ENST00000356443.4	37	c.737	CCDS45824.1	18	.	.	.	.	.	.	.	.	.	.	C	34	5.356344	0.95854	.	.	ENSG00000101605	ENST00000356443;ENST00000400569;ENST00000261606	T;T;T	0.49720	0.87;0.89;0.77	5.84	5.84	0.93424	.	0.071710	0.53938	D	0.000048	T	0.62429	0.2427	L	0.38175	1.15	0.44447	D	0.997374	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.994	T	0.61554	-0.7039	10	0.56958	D	0.05	.	19.7351	0.96200	0.0:1.0:0.0:0.0	.	246;246	P52179-2;P52179	.;MYOM1_HUMAN	Q	246	ENSP00000348821:R246Q;ENSP00000383413:R246Q;ENSP00000261606:R246Q	ENSP00000261606:R246Q	R	-	2	0	MYOM1	3178780	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.270000	0.58896	2.756000	0.94617	0.603000	0.83216	CGA	MYOM1	-	NULL	ENSG00000101605		0.453	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYOM1	HGNC	protein_coding	OTTHUMT00000441037.2	-	0.00	15	0	C	NM_003803		3188780	-1	tier1	-	no_errors	ENST00000356443	ensembl	human	known	74_37	missense	55.77	23	29	SNP	1.000	T
NAGPA	51172	genome.wustl.edu	37	16	5078127	5078127	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr16:5078127G>T	ENST00000312251.3	-	6	999	c.980C>A	c.(979-981)cCc>cAc	p.P327H	RP11-165E7.1_ENST00000588778.1_RNA|NAGPA_ENST00000381955.3_Missense_Mutation_p.P327H	NM_016256.3	NP_057340.2	Q9UK23	NAGPA_HUMAN	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	327					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|lysosome organization (GO:0007040)|protein glycosylation (GO:0006486)|protein targeting to lysosome (GO:0006622)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity (GO:0003944)			endometrium(4)|large_intestine(4)|lung(3)|urinary_tract(1)	12					N-Acetyl-D-glucosamine(DB00141)	CTGGCAGCGGGGTTCGTGCAC	0.662																																																	0													22.0	23.0	23.0					16																	5078127		2193	4290	6483	SO:0001583	missense	0			AF187072	CCDS10527.1	16p13.3	2008-02-05			ENSG00000103174	ENSG00000103174	3.1.4.45		17378	protein-coding gene	gene with protein product		607985				10551838, 12058031	Standard	NM_016256		Approved	APAA, UCE	uc002cyg.3	Q9UK23	OTTHUMG00000090515	ENST00000312251.3:c.980C>A	16.37:g.5078127G>T	ENSP00000310998:p.Pro327His		B2RAS1|Q96EJ8	Missense_Mutation	SNP	pfam_DUF2233,pfscan_EG-like_dom	p.P327H	ENST00000312251.3	37	c.980	CCDS10527.1	16	.	.	.	.	.	.	.	.	.	.	G	19.32	3.805744	0.70682	.	.	ENSG00000103174	ENST00000312251;ENST00000381955	T;T	0.31247	1.5;1.67	4.36	4.36	0.52297	.	0.140735	0.48767	D	0.000163	T	0.59432	0.2193	M	0.83118	2.625	0.36671	D	0.878522	D	0.89917	1.0	D	0.77557	0.99	T	0.72912	-0.4148	10	0.66056	D	0.02	-27.7491	16.908	0.86133	0.0:0.0:1.0:0.0	.	327	Q9UK23	NAGPA_HUMAN	H	327	ENSP00000310998:P327H;ENSP00000371381:P327H	ENSP00000310998:P327H	P	-	2	0	NAGPA	5018128	1.000000	0.71417	0.997000	0.53966	0.969000	0.65631	5.039000	0.64185	1.968000	0.57251	0.561000	0.74099	CCC	NAGPA	-	NULL	ENSG00000103174		0.662	NAGPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAGPA	HGNC	protein_coding	OTTHUMT00000207003.1		0.00	23	0	G	NM_016256		5078127	-1			no_errors	ENST00000312251	ensembl	human	known	74_37	missense	6.90	54	4	SNP	0.984	T
NALCN	259232	genome.wustl.edu	37	13	102029402	102029402	+	Silent	SNP	A	A	G			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr13:102029402A>G	ENST00000251127.6	-	5	462	c.381T>C	c.(379-381)ttT>ttC	p.F127F	NALCN_ENST00000376196.3_Silent_p.F127F|NALCN_ENST00000376200.5_Silent_p.F127F|NALCN_ENST00000470333.1_5'UTR	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	127					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CAGCAATTTCAAACACCTACA	0.408																																																	0													55.0	55.0	55.0					13																	102029402		2203	4300	6503	SO:0001819	synonymous_variant	0			AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.381T>C	13.37:g.102029402A>G			Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Silent	SNP	pfam_Ion_trans_dom	p.F127	ENST00000251127.6	37	c.381	CCDS9498.1	13																																																																																			NALCN	-	pfam_Ion_trans_dom	ENSG00000102452		0.408	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NALCN	HGNC	protein_coding	OTTHUMT00000045663.2		0.00	13	0	A	NM_052867		102029402	-1			no_errors	ENST00000251127	ensembl	human	known	74_37	silent	9.76	37	4	SNP	1.000	G
NANOS3	342977	genome.wustl.edu	37	19	13988559	13988559	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr19:13988559G>T	ENST00000397555.2	+	2	440	c.440G>T	c.(439-441)cGa>cTa	p.R147L	MIR181D_ENST00000384853.1_RNA|MIR181C_ENST00000384881.1_RNA|NANOS3_ENST00000339133.5_Missense_Mutation_p.R166L|NANOS3_ENST00000591727.1_Intron	NM_001098622.2	NP_001092092.1	P60323	NANO3_HUMAN	nanos homolog 3 (Drosophila)	147					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.G171delG(1)		breast(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	7			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			GGCCACCGCCGAGGAGGAGGA	0.642																																																	1	Deletion - In frame(1)	prostate(1)											6.0	7.0	6.0					19																	13988559		1897	3928	5825	SO:0001583	missense	0			BM702754	CCDS42511.1	19p13.13	2003-12-01				ENSG00000187556			22048	protein-coding gene	gene with protein product		608229					Standard	NM_001098622		Approved	NANOS1L, NOS3	uc002mxj.4	P60323		ENST00000397555.2:c.440G>T	19.37:g.13988559G>T	ENSP00000380687:p.Arg147Leu		Q495E5	Missense_Mutation	SNP	pfam_Znf_nanos-typ	p.R166L	ENST00000397555.2	37	c.497		19	.	.	.	.	.	.	.	.	.	.	G	13.17	2.157944	0.38119	.	.	ENSG00000187556	ENST00000339133;ENST00000397555	T;T	0.44881	0.91;0.93	4.46	0.991	0.19813	.	0.511109	0.14695	N	0.303930	T	0.16342	0.0393	.	.	.	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.21793	-1.0235	9	0.09084	T	0.74	-7.1094	2.763	0.05312	0.26:0.0:0.5075:0.2325	.	166	P60323-2	.	L	166;147	ENSP00000341992:R166L;ENSP00000380687:R147L	ENSP00000341992:R166L	R	+	2	0	NANOS3	13849559	0.037000	0.19845	0.219000	0.23793	0.727000	0.41649	0.849000	0.27723	0.511000	0.28236	0.609000	0.83330	CGA	NANOS3	-	NULL	ENSG00000187556		0.642	NANOS3-201	KNOWN	basic|appris_principal	protein_coding	NANOS3	HGNC	protein_coding			0.00	15	0	G	XM_292819		13988559	+1			no_errors	ENST00000339133	ensembl	human	known	74_37	missense	5.71	32	2	SNP	0.132	T
NAP1L6	645996	genome.wustl.edu	37	X	72347489	72347489	+	Missense_Mutation	SNP	T	T	A			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chrX:72347489T>A	ENST00000373518.1	-	1	430	c.233A>T	c.(232-234)aAg>aTg	p.K78M				A6NFF2	NP1L6_HUMAN	nucleosome assembly protein 1-like 6	78					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)											GGTGGCAAACTTCCTCTCGAC	0.493																																																	0																																										SO:0001583	missense	0			AK090915		Xq13.2	2013-03-27			ENSG00000204118	ENSG00000204118			31706	other	unknown							Standard	NR_027291		Approved	FLJ33596	uc004ebh.1	A6NFF2	OTTHUMG00000021826	ENST00000373518.1:c.233A>T	X.37:g.72347489T>A	ENSP00000362617:p.Lys78Met			Missense_Mutation	SNP	pfam_NAP_family	p.K78M	ENST00000373518.1	37	c.233		X	.	.	.	.	.	.	.	.	.	.	T	15.64	2.892620	0.52121	.	.	ENSG00000204118	ENST00000373518	T	0.32753	1.44	2.37	2.37	0.29283	.	0.056047	0.64402	U	0.000001	T	0.34424	0.0897	.	.	.	0.29123	N	0.880146	.	.	.	.	.	.	T	0.24799	-1.0150	7	0.87932	D	0	.	7.8881	0.29661	0.0:0.0:0.0:1.0	.	.	.	.	M	78	ENSP00000362617:K78M	ENSP00000362617:K78M	K	-	2	0	NAP1L6	72264214	1.000000	0.71417	0.012000	0.15200	0.028000	0.11728	5.112000	0.64634	1.192000	0.43071	0.361000	0.22055	AAG	NAP1L6	-	pfam_NAP_family	ENSG00000204118		0.493	NAP1L6-001	KNOWN	basic|appris_principal	protein_coding	NAP1L6	HGNC	protein_coding	OTTHUMT00000057224.1	-	0.00	8	0	T	NR_027291		72347489	-1	tier1	-	no_errors	ENST00000373518	ensembl	human	known	74_37	missense	28.12	23	9	SNP	0.982	A
NBPF1	55672	genome.wustl.edu	37	1	16895640	16895640	+	Missense_Mutation	SNP	A	A	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr1:16895640A>T	ENST00000430580.2	-	23	3429	c.2542T>A	c.(2542-2544)Tcg>Acg	p.S848T	NBPF1_ENST00000432949.1_Intron|NBPF1_ENST00000287968.8_3'UTR|NBPF1_ENST00000420031.2_3'UTR	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	848	NBPF 4. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		GACTTGTACGAGGCCAACATT	0.488																																																	0													157.0	167.0	164.0					1																	16895640		1961	4092	6053	SO:0001583	missense	0			AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.2542T>A	1.37:g.16895640A>T	ENSP00000474456:p.Ser848Thr		Q8N4E8|Q9C0H0	Missense_Mutation	SNP	pfam_NBPF_dom	p.S848T	ENST00000430580.2	37	c.2542		1																																																																																			NBPF1	-	pfam_NBPF_dom	ENSG00000219481		0.488	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	NBPF1	HGNC	protein_coding	OTTHUMT00000106436.3	-	0.00	136	0	A	NM_017940		16895640	-1	tier1	-	no_errors	ENST00000430580	ensembl	human	novel	74_37	missense	9.05	541	54	SNP	0.000	T
NBPF12	149013	genome.wustl.edu	37	1	146398324	146398324	+	Nonsense_Mutation	SNP	C	C	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr1:146398324C>T	ENST00000442909.2	+	7	1146	c.310C>T	c.(310-312)Cga>Tga	p.R104*	NBPF12_ENST00000446760.2_Nonsense_Mutation_p.R104*|NBPF12_ENST00000309471.8_Nonsense_Mutation_p.R29*			Q5TAG4	NBPFC_HUMAN	neuroblastoma breakpoint family, member 12	0	NBPF 2. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				ovary(2)	2						CTCTCAGGAACGAGAGCTGAC	0.493																																																	0																																										SO:0001587	stop_gained	0			BG154169	CCDS72881.1	1q21.1	2013-01-17	2011-06-28	2011-06-28	ENSG00000186275	ENSG00000268043		"""neuroblastoma breakpoint family"""	24297	protein-coding gene	gene with protein product		608607	"""KIAA1245"""	KIAA1245		11948409	Standard	NM_001278141		Approved	COAS1		Q5TAG4	OTTHUMG00000043708	ENST00000442909.2:c.310C>T	1.37:g.146398324C>T	ENSP00000391116:p.Arg104*		O95877	Nonsense_Mutation	SNP	pfam_NBPF_dom	p.R104*	ENST00000442909.2	37	c.310		1	.	.	.	.	.	.	.	.	.	.	N	37	6.492900	0.97612	.	.	ENSG00000186275	ENST00000446760;ENST00000442909;ENST00000309471	.	.	.	1.68	0.612	0.17591	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.2215	0.15371	0.3416:0.6584:0.0:0.0	.	.	.	.	X	104;104;29	.	ENSP00000311131:R29X	R	+	1	2	NBPF12	144765839	0.120000	0.22244	0.000000	0.03702	0.009000	0.06853	0.039000	0.13884	0.073000	0.16731	0.361000	0.22055	CGA	NBPF12	-	NULL	ENSG00000186275		0.493	NBPF12-001	NOVEL	basic|appris_principal	protein_coding	NBPF12	HGNC	protein_coding	OTTHUMT00000102086.3	-	0.00	36	0	C	XM_003119146		146398324	+1	tier1	-	no_errors	ENST00000446760	ensembl	human	known	74_37	nonsense	12.22	194	27	SNP	0.001	T
NFXL1	152518	genome.wustl.edu	37	4	47915995	47915995	+	Missense_Mutation	SNP	C	C	A	rs34148858		TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr4:47915995C>A	ENST00000507489.1	-	2	402	c.226G>T	c.(226-228)Gca>Tca	p.A76S	NFXL1_ENST00000381538.3_Missense_Mutation_p.A76S|NFXL1_ENST00000329043.3_Missense_Mutation_p.A76S	NM_001278624.1	NP_001265553.1	Q6ZNB6	NFXL1_HUMAN	nuclear transcription factor, X-box binding-like 1	76						integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4)	27						CCGCTGGCTGCGGTAGTCTGC	0.662																																																	0													18.0	18.0	18.0					4																	47915995		1923	3645	5568	SO:0001583	missense	0			AY134856	CCDS3478.2	4p12	2008-02-05			ENSG00000170448	ENSG00000170448			18726	protein-coding gene	gene with protein product	"""ovarian zinc finger protein"""						Standard	NM_152995		Approved	HOZFP	uc003gxp.3	Q6ZNB6	OTTHUMG00000128621	ENST00000507489.1:c.226G>T	4.37:g.47915995C>A	ENSP00000422037:p.Ala76Ser		B1Q2K1|Q86VG1|Q8WVH1	Missense_Mutation	SNP	pfam_Znf_NFX1,smart_Znf_NFX1,pfscan_Znf_RING	p.A76S	ENST00000507489.1	37	c.226	CCDS3478.2	4	.	.	.	.	.	.	.	.	.	.	C	13.61	2.287721	0.40494	.	.	ENSG00000170448	ENST00000381538;ENST00000507489;ENST00000329043	T;T;T	0.42131	0.98;0.98;0.98	4.56	3.7	0.42460	.	1.510140	0.04354	N	0.356138	T	0.31263	0.0791	N	0.22421	0.69	0.09310	N	1	B	0.11235	0.004	B	0.12156	0.007	T	0.20174	-1.0283	10	0.08599	T	0.76	1.3508	11.1729	0.48582	0.1834:0.8166:0.0:0.0	.	76	Q6ZNB6	NFXL1_HUMAN	S	76	ENSP00000370949:A76S;ENSP00000422037:A76S;ENSP00000333113:A76S	ENSP00000333113:A76S	A	-	1	0	NFXL1	47610752	0.004000	0.15560	0.001000	0.08648	0.092000	0.18411	0.603000	0.24149	0.869000	0.35703	0.484000	0.47621	GCA	NFXL1	-	NULL	ENSG00000170448		0.662	NFXL1-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NFXL1	HGNC	protein_coding	OTTHUMT00000361636.1		0.00	10	0	C	NM_152995		47915995	-1			no_errors	ENST00000381538	ensembl	human	known	74_37	missense	7.84	47	4	SNP	0.005	A
NHSL2	340527	genome.wustl.edu	37	X	71359668	71359668	+	Missense_Mutation	SNP	C	C	T	rs370237961		TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chrX:71359668C>T	ENST00000373677.1	+	2	2434	c.1172C>T	c.(1171-1173)cCg>cTg	p.P391L	NHSL2_ENST00000510661.1_Missense_Mutation_p.P526L|NHSL2_ENST00000540800.1_Missense_Mutation_p.P757L|NHSL2_ENST00000535692.1_Missense_Mutation_p.P391L			Q5HYW2	NHSL2_HUMAN	NHS-like 2	391	Ser-rich.									NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					TCACTACCCCCGACGTCACCA	0.547																																																	0								C	LEU/PRO	0,3835		0,0,0,1632,571	139.0	101.0	114.0		2270	4.9	1.0	X		114	1,6727		0,0,1,2428,1871	no	missense	NHSL2	NM_001013627.2	98	0,0,1,4060,2442	TT,TC,T,CC,C		0.0149,0.0,0.0095	probably-damaging	757/1226	71359668	1,10562	2203	4300	6503	SO:0001583	missense	0					Xq13.1	2009-02-18			ENSG00000204131	ENSG00000204131			33737	protein-coding gene	gene with protein product							Standard	NM_001013627		Approved		uc011mqa.2	Q5HYW2	OTTHUMG00000021807	ENST00000373677.1:c.1172C>T	X.37:g.71359668C>T	ENSP00000362781:p.Pro391Leu		B2RN94	Missense_Mutation	SNP	NULL	p.P757L	ENST00000373677.1	37	c.2270		X	.	.	.	.	.	.	.	.	.	.	C	15.20	2.764111	0.49574	0.0	1.49E-4	ENSG00000204131	ENST00000540800;ENST00000373677;ENST00000510661;ENST00000535692	T;T;T;T	0.46451	1.48;0.89;0.87;0.89	5.75	4.87	0.63330	.	0.199999	0.34700	N	0.003754	T	0.45856	0.1363	L	0.51422	1.61	0.44366	D	0.997263	D;D;D	0.63880	0.966;0.993;0.981	P;P;P	0.49085	0.482;0.6;0.482	T	0.46512	-0.9186	10	0.66056	D	0.02	-5.0101	12.7169	0.57119	0.1655:0.8345:0.0:0.0	.	757;526;391	F5H593;D6RBM4;Q5HYW2	.;.;NHSL2_HUMAN	L	757;391;526;391	ENSP00000444617:P757L;ENSP00000362781:P391L;ENSP00000424079:P526L;ENSP00000444914:P391L	ENSP00000362781:P391L	P	+	2	0	NHSL2	71276393	0.849000	0.29639	0.997000	0.53966	0.963000	0.63663	3.079000	0.50104	1.159000	0.42565	0.600000	0.82982	CCG	NHSL2	-	NULL	ENSG00000204131		0.547	NHSL2-001	KNOWN	basic	protein_coding	NHSL2	HGNC	protein_coding	OTTHUMT00000057170.1	-	0.00	12	0	C	NM_001013627		71359668	+1	tier1	-	no_errors	ENST00000540800	ensembl	human	known	74_37	missense	53.57	13	15	SNP	0.996	T
NKIRAS2	28511	genome.wustl.edu	37	17	40175837	40175837	+	Missense_Mutation	SNP	A	A	G			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr17:40175837A>G	ENST00000307641.5	+	4	1123	c.502A>G	c.(502-504)Atg>Gtg	p.M168V	NKIRAS2_ENST00000393880.1_Missense_Mutation_p.M168V|NKIRAS2_ENST00000316082.4_Missense_Mutation_p.M206V|NKIRAS2_ENST00000449471.4_Missense_Mutation_p.M112V|NKIRAS2_ENST00000393884.2_Missense_Mutation_p.M166V|NKIRAS2_ENST00000393881.3_Missense_Mutation_p.M168V|NKIRAS2_ENST00000393885.4_Missense_Mutation_p.M168V|ZNF385C_ENST00000461831.1_5'Flank|NKIRAS2_ENST00000479407.1_3'UTR|NKIRAS2_ENST00000462043.2_3'UTR	NM_001001349.2	NP_001001349.1	Q9NYR9	KBRS2_HUMAN	NFKB inhibitor interacting Ras-like 2	168	Small GTPase-like.				I-kappaB kinase/NF-kappaB signaling (GO:0007249)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	9		all_cancers(22;1.1e-05)|Breast(137;0.000143)|all_epithelial(22;0.000319)				GGCCAGCAAGATGACGCAACC	0.612																																																	0													93.0	88.0	90.0					17																	40175837		2203	4300	6503	SO:0001583	missense	0			AF229840	CCDS11415.1, CCDS45679.1, CCDS45680.1	17q21.31	2014-05-09	2004-05-20		ENSG00000168256	ENSG00000168256			17898	protein-coding gene	gene with protein product		604497	"""NFKB inhibitor interacting Ras-like protein 2"""			10657303	Standard	NM_001001349		Approved	KBRAS2, DKFZP434N1526, kappaB-Ras2	uc002hys.3	Q9NYR9	OTTHUMG00000133503	ENST00000307641.5:c.502A>G	17.37:g.40175837A>G	ENSP00000303580:p.Met168Val		A6NCZ5|B3KNN0|B4DNM3|Q6PK52|Q96KC7|Q9NSX1	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.M168V	ENST00000307641.5	37	c.502	CCDS11415.1	17	.	.	.	.	.	.	.	.	.	.	A	15.73	2.920603	0.52653	.	.	ENSG00000168256	ENST00000307641;ENST00000393884;ENST00000393880;ENST00000393881;ENST00000393885;ENST00000462043;ENST00000316082	T;T;T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13;-1.13;-1.13	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.70780	0.3263	L	0.31845	0.965	0.80722	D	1	B;B	0.25351	0.124;0.009	B;B	0.25506	0.061;0.017	T	0.67749	-0.5590	10	0.49607	T	0.09	-18.0207	16.3593	0.83251	1.0:0.0:0.0:0.0	.	112;168	B4DNM3;Q9NYR9	.;KBRS2_HUMAN	V	168;166;168;168;168;112;206	ENSP00000303580:M168V;ENSP00000377462:M166V;ENSP00000377458:M168V;ENSP00000377459:M168V;ENSP00000377463:M168V;ENSP00000312773:M206V	ENSP00000303580:M168V	M	+	1	0	NKIRAS2	37429363	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	5.132000	0.64758	2.267000	0.75376	0.383000	0.25322	ATG	NKIRAS2	-	pfam_Small_GTPase,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,prints_Small_GTPase	ENSG00000168256		0.612	NKIRAS2-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NKIRAS2	HGNC	protein_coding	OTTHUMT00000257457.1		0.00	20	0	A	NM_017595		40175837	+1			no_errors	ENST00000307641	ensembl	human	known	74_37	missense	5.19	73	4	SNP	1.000	G
NLRC5	84166	genome.wustl.edu	37	16	57101700	57101700	+	Nonsense_Mutation	SNP	C	C	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr16:57101700C>T	ENST00000262510.6	+	36	4684	c.4459C>T	c.(4459-4461)Cag>Tag	p.Q1487*	NLRC5_ENST00000539144.1_Nonsense_Mutation_p.Q1458*|NLRC5_ENST00000308149.7_Nonsense_Mutation_p.Q1458*|NLRC5_ENST00000436936.1_Nonsense_Mutation_p.Q1487*	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1487					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				CCTGCTGCTGCAGAGCCTCCT	0.527																																																	0													169.0	144.0	153.0					16																	57101700		2198	4300	6498	SO:0001587	stop_gained	0			AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"""Nucleotide-binding domain and leucine rich repeat containing"""	29933	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5"", ""NOD-like receptor C5"""	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.4459C>T	16.37:g.57101700C>T	ENSP00000262510:p.Gln1487*		B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Nonsense_Mutation	SNP	pfam_Leu-rich_rpt,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_NACHT_NTPase	p.Q1487*	ENST00000262510.6	37	c.4459	CCDS10773.1	16	.	.	.	.	.	.	.	.	.	.	C	40	8.171280	0.98688	.	.	ENSG00000140853	ENST00000262510;ENST00000308149;ENST00000436936;ENST00000539144	.	.	.	3.86	1.85	0.25348	.	.	.	.	.	.	.	.	.	.	.	0.58432	A	0.999999	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	6.7915	0.23701	0.2032:0.6005:0.1963:0.0	.	.	.	.	X	1487;1458;1487;1458	.	ENSP00000262510:Q1487X	Q	+	1	0	NLRC5	55659201	0.008000	0.16893	0.058000	0.19502	0.029000	0.11900	0.144000	0.16135	0.581000	0.29539	0.453000	0.30009	CAG	NLRC5	-	NULL	ENSG00000140853		0.527	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRC5	HGNC	protein_coding	OTTHUMT00000257346.1		0.00	15	0	C	NM_032206		57101700	+1			no_errors	ENST00000262510	ensembl	human	known	74_37	nonsense	8.16	45	4	SNP	0.057	T
NLRP2	55655	genome.wustl.edu	37	19	55494276	55494276	+	Missense_Mutation	SNP	G	G	A			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr19:55494276G>A	ENST00000543010.1	+	6	1353	c.1210G>A	c.(1210-1212)Gtg>Atg	p.V404M	NLRP2_ENST00000448584.2_Missense_Mutation_p.V404M|NLRP2_ENST00000537859.1_Missense_Mutation_p.V382M|NLRP2_ENST00000427260.2_Missense_Mutation_p.V381M|NLRP2_ENST00000391721.4_Missense_Mutation_p.V380M|NLRP2_ENST00000263437.6_Missense_Mutation_p.V401M|NLRP2_ENST00000339757.7_Missense_Mutation_p.V382M|NLRP2_ENST00000538819.1_Missense_Mutation_p.V380M	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	404	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GTGCTGGATCGTGTGCACGAC	0.642																																																	0													41.0	39.0	40.0					19																	55494276		2201	4300	6501	SO:0001583	missense	0			AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"""Nucleotide-binding domain and leucine rich repeat containing"""	22948	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"""	609364	"""NACHT, leucine rich repeat and PYD containing 2"""	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.1210G>A	19.37:g.55494276G>A	ENSP00000445135:p.Val404Met		B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.V404M	ENST00000543010.1	37	c.1210	CCDS12913.1	19	.	.	.	.	.	.	.	.	.	.	G	11.34	1.610101	0.28712	.	.	ENSG00000022556	ENST00000543010;ENST00000391721;ENST00000339757;ENST00000448584;ENST00000537859;ENST00000427260;ENST00000538819;ENST00000263437	T;T;T;T;T;T;T;T	0.77620	-1.08;-1.0;-1.01;-1.08;-1.01;-1.11;-1.0;-1.09	1.64	-3.28	0.05033	NACHT nucleoside triphosphatase (1);	1.467820	0.05194	N	0.503598	D	0.87042	0.6079	M	0.90977	3.165	0.09310	N	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.78314	0.991;0.991;0.98;0.991;0.98	T	0.73442	-0.3981	10	0.72032	D	0.01	.	0.584	0.00717	0.4114:0.1813:0.2244:0.1829	.	381;382;401;380;404	B4DZL7;Q9NX02-2;A8K9G6;Q9NX02-4;Q9NX02	.;.;.;.;NALP2_HUMAN	M	404;380;382;404;382;381;380;401	ENSP00000445135:V404M;ENSP00000375601:V380M;ENSP00000344074:V382M;ENSP00000409370:V404M;ENSP00000440601:V382M;ENSP00000402474:V381M;ENSP00000441133:V380M;ENSP00000263437:V401M	ENSP00000263437:V401M	V	+	1	0	NLRP2	60186088	0.002000	0.14202	0.000000	0.03702	0.003000	0.03518	-0.159000	0.10056	-1.072000	0.03141	-1.154000	0.01816	GTG	NLRP2	-	pfscan_NACHT_NTPase	ENSG00000022556		0.642	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NLRP2	HGNC	protein_coding	OTTHUMT00000396152.1	-	0.00	12	0	G	NM_017852		55494276	+1	tier1	-	no_errors	ENST00000448584	ensembl	human	known	74_37	missense	44.00	28	22	SNP	0.099	A
NOLC1	9221	genome.wustl.edu	37	10	103919022	103919022	+	Missense_Mutation	SNP	G	G	A			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr10:103919022G>A	ENST00000605788.1	+	6	915	c.680G>A	c.(679-681)aGt>aAt	p.S227N	NOLC1_ENST00000603742.1_5'UTR|NOLC1_ENST00000488254.2_Missense_Mutation_p.S228N|NOLC1_ENST00000405356.1_Missense_Mutation_p.S227N	NM_001284389.1|NM_004741.3	NP_001271318.1|NP_004732.2	Q14978	NOLC1_HUMAN	nucleolar and coiled-body phosphoprotein 1	227	11 X 12 AA approximate repeats of an acidic serine cluster.|Interacts with RPA194.				cell cycle (GO:0007049)|mitotic nuclear division (GO:0007067)|nucleolus organization (GO:0007000)|rRNA processing (GO:0006364)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		agcagtagcagTGATGACTCA	0.522																																																	0													113.0	116.0	115.0					10																	103919022		2203	4300	6503	SO:0001583	missense	0			Z34289	CCDS7530.1, CCDS65925.1, CCDS65926.1	10q24.32	2008-08-01			ENSG00000166197	ENSG00000166197			15608	protein-coding gene	gene with protein product		602394				7657714, 10567578	Standard	XM_005270273		Approved	P130, KIAA0035, NOPP140, NOPP130	uc001kuo.2	Q14978	OTTHUMG00000018944	ENST00000605788.1:c.680G>A	10.37:g.103919022G>A	ENSP00000474710:p.Ser227Asn		Q15030|Q5VV70|Q9BUV3	Missense_Mutation	SNP	pfam_SRP40_C,pfscan_LisH_dimerisation	p.S227N	ENST00000605788.1	37	c.680	CCDS7530.1	10	.	.	.	.	.	.	.	.	.	.	G	11.77	1.737925	0.30774	.	.	ENSG00000166197	ENST00000405356;ENST00000370007	T	0.42513	0.97	5.49	4.53	0.55603	.	0.603872	0.17866	N	0.159348	T	0.51126	0.1656	L	0.58810	1.83	0.35025	D	0.758251	P;D;P	0.55172	0.947;0.97;0.949	P;P;P	0.54026	0.74;0.74;0.554	T	0.63514	-0.6620	10	0.54805	T	0.06	4.8699	10.908	0.47092	0.0922:0.0:0.9078:0.0	.	228;227;227	Q14978-3;Q14978-2;Q14978	.;.;NOLC1_HUMAN	N	227	ENSP00000385410:S227N	ENSP00000359024:S227N	S	+	2	0	NOLC1	103909012	0.437000	0.25593	0.925000	0.36789	0.342000	0.28953	2.332000	0.43903	1.198000	0.43158	0.655000	0.94253	AGT	NOLC1	-	NULL	ENSG00000166197		0.522	NOLC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NOLC1	HGNC	protein_coding	OTTHUMT00000050012.2	-	0.00	40	0	G	NM_004741		103919022	+1	tier1	-	no_errors	ENST00000405356	ensembl	human	known	74_37	missense	31.48	74	34	SNP	0.997	A
NPFFR2	10886	genome.wustl.edu	37	4	72897917	72897917	+	Splice_Site	SNP	G	G	A			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr4:72897917G>A	ENST00000308744.6	+	1	397	c.299G>A	c.(298-300)aGg>aAg	p.R100K	NPFFR2_ENST00000344413.5_Splice_Site_p.R100K	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	100					detection of abiotic stimulus (GO:0009582)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of adenylate cyclase activity (GO:0045761)|regulation of cAMP-dependent protein kinase activity (GO:2000479)|regulation of MAPK cascade (GO:0043408)	actin cytoskeleton (GO:0015629)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide receptor activity (GO:0008188)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			CGCCGGGAGAGGTAACAGCAT	0.612																																																	0													23.0	28.0	26.0					4																	72897917		2203	4300	6503	SO:0001630	splice_region_variant	0			AF236083	CCDS3551.1, CCDS3552.1, CCDS47072.1	4q21	2012-08-10	2006-02-15	2006-02-15	ENSG00000056291	ENSG00000056291		"""GPCR / Class A :  Neuropeptide receptors : FF/AF"", ""GPCR / Class A : RF amide peptide receptors"""	4525	protein-coding gene	gene with protein product	"""neuropeptide FF 2"""	607449	"""G protein-coupled receptor 74"""	GPR74		10079187, 10851242	Standard	NM_001144756		Approved	NPFF2, NPGPR	uc003hgg.2	Q9Y5X5	OTTHUMG00000129918	ENST00000308744.6:c.299+1G>A	4.37:g.72897917G>A			Q96RV1|Q9NR49	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NPFF_rcpt_2,prints_NPFF_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt	p.R100K	ENST00000308744.6	37	c.299	CCDS3551.1	4	.	.	.	.	.	.	.	.	.	.	G	13.49	2.252726	0.39797	.	.	ENSG00000056291	ENST00000308744;ENST00000344413	T	0.72394	-0.65	2.91	2.04	0.26737	.	0.495612	0.14966	N	0.288089	T	0.47451	0.1446	N	0.19112	0.55	0.20074	N	0.999936	B	0.25105	0.118	B	0.21917	0.037	T	0.27606	-1.0069	10	0.07813	T	0.8	.	7.1454	0.25581	0.0:0.0:0.7331:0.2669	.	100	Q9Y5X5	NPFF2_HUMAN	K	100	ENSP00000307822:R100K	ENSP00000307822:R100K	R	+	2	0	NPFFR2	73116781	0.964000	0.33143	0.077000	0.20336	0.356000	0.29392	1.862000	0.39448	0.782000	0.33613	0.313000	0.20887	AGG	NPFFR2	-	NULL	ENSG00000056291		0.612	NPFFR2-001	KNOWN	basic|CCDS	protein_coding	NPFFR2	HGNC	protein_coding	OTTHUMT00000252170.2	-	0.00	36	0	G	NM_004885	Missense_Mutation	72897917	+1	tier1	-	no_errors	ENST00000308744	ensembl	human	known	74_37	missense	29.66	83	35	SNP	0.078	A
NRG3	10718	genome.wustl.edu	37	10	84738876	84738876	+	Splice_Site	SNP	G	G	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr10:84738876G>T	ENST00000404547.1	+	8	1583	c.1583G>T	c.(1582-1584)gGg>gTg	p.G528V	NRG3_ENST00000372142.2_Splice_Site_p.G307V|NRG3_ENST00000545131.1_Splice_Site_p.G178V|NRG3_ENST00000556918.1_Splice_Site_p.G358V|NRG3_ENST00000537893.1_Splice_Site_p.G178V|NRG3_ENST00000372141.2_Splice_Site_p.G528V|NRG3_ENST00000404576.2_Splice_Site_p.G332V			P56975	NRG3_HUMAN	neuregulin 3	528					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|intracellular signal transduction (GO:0035556)|mammary placode formation (GO:0060596)|pattern specification process (GO:0007389)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	growth factor activity (GO:0008083)|receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		CCTTGCCAAGGGTAGGTCTTA	0.443																																																	0													81.0	68.0	73.0					10																	84738876		2203	4300	6503	SO:0001630	splice_region_variant	0			AK098823	CCDS31233.1, CCDS53547.1	10q22-q23	2003-09-09			ENSG00000185737	ENSG00000185737			7999	protein-coding gene	gene with protein product		605533				9275162	Standard	NM_001010848		Approved		uc001kco.2	P56975	OTTHUMG00000018626	ENST00000404547.1:c.1583+1G>T	10.37:g.84738876G>T			A4D7U1|Q0PEH2|Q5VYH3	Missense_Mutation	SNP	pfscan_EG-like_dom	p.G528V	ENST00000404547.1	37	c.1583	CCDS31233.1	10	.	.	.	.	.	.	.	.	.	.	G	21.0	4.078090	0.76528	.	.	ENSG00000185737	ENST00000372141;ENST00000404547;ENST00000537287;ENST00000372142;ENST00000404576;ENST00000556918;ENST00000545131;ENST00000537893	T;T;T;T;T;T;T	0.54071	1.42;1.22;1.23;0.59;0.59;0.59;0.59	5.83	5.83	0.93111	.	0.086976	0.48767	D	0.000161	T	0.68100	0.2964	L	0.50333	1.59	0.44492	D	0.997435	D;D;D;D	0.89917	1.0;0.993;1.0;1.0	D;D;D;D	0.97110	1.0;0.915;0.999;1.0	T	0.64419	-0.6412	10	0.40728	T	0.16	-32.5126	17.6312	0.88108	0.0:0.0:1.0:0.0	.	527;528;307;528	B9EGV5;P56975;P56975-3;P56975-4	.;NRG3_HUMAN;.;.	V	528;528;527;307;332;358;178;178	ENSP00000361214:G528V;ENSP00000384796:G528V;ENSP00000361215:G307V;ENSP00000385804:G332V;ENSP00000451376:G358V;ENSP00000441201:G178V;ENSP00000440377:G178V	ENSP00000361214:G528V	G	+	2	0	NRG3	84728856	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	6.668000	0.74457	2.763000	0.94921	0.563000	0.77884	GGG	NRG3	-	NULL	ENSG00000185737		0.443	NRG3-005	KNOWN	basic|CCDS	protein_coding	NRG3	HGNC	protein_coding	OTTHUMT00000412262.1	-	0.00	20	0	G	XM_166086	Missense_Mutation	84738876	+1	tier1	-	no_errors	ENST00000404547	ensembl	human	known	74_37	missense	21.21	52	14	SNP	1.000	T
NRXN3	9369	genome.wustl.edu	37	14	80327554	80327554	+	Silent	SNP	G	G	A			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr14:80327554G>A	ENST00000557594.1	+	6	2114	c.1161G>A	c.(1159-1161)tcG>tcA	p.S387S	NRXN3_ENST00000554719.1_Intron|NRXN3_ENST00000428277.2_Intron|NRXN3_ENST00000556003.1_Intron|NRXN3_ENST00000281127.7_Intron|NRXN3_ENST00000335750.5_Intron	NM_001272020.1	NP_001258949.1	Q9HDB5	NRX3B_HUMAN	neurexin 3	387					adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CTTGCTTGTCGGACCAAGGCA	0.532																																																	0																																										SO:0001819	synonymous_variant	0			AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"""chromosome 14 open reading frame 60"""	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000557594.1:c.1161G>A	14.37:g.80327554G>A			A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Silent	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Neurexin-like,pfscan_Laminin_G	p.S387	ENST00000557594.1	37	c.1161		14																																																																																			NRXN3	-	NULL	ENSG00000021645		0.532	NRXN3-004	NOVEL	basic	protein_coding	NRXN3	HGNC	protein_coding	OTTHUMT00000413790.1	-	0.00	24	0	G	NM_001105250		80327554	+1	tier1	-	no_errors	ENST00000557594	ensembl	human	novel	74_37	silent	44.59	40	33	SNP	1.000	A
NSUN6	221078	genome.wustl.edu	37	10	18903421	18903421	+	Silent	SNP	G	G	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr10:18903421G>T	ENST00000377304.4	-	5	961	c.543C>A	c.(541-543)cgC>cgA	p.R181R		NM_182543.2	NP_872349.1	Q8TEA1	NSUN6_HUMAN	NOP2/Sun domain family, member 6	181	PUA. {ECO:0000255|PROSITE- ProRule:PRU00161}.						methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15						AGATTTCTTTGCGGCTTAGTT	0.343																																																	0													87.0	82.0	84.0					10																	18903421		2203	4300	6503	SO:0001819	synonymous_variant	0			BC035778	CCDS7130.1	10p13	2014-06-23	2009-11-23	2004-08-26	ENSG00000241058	ENSG00000241058		"""NOP2/Sun domain containing"""	23529	protein-coding gene	gene with protein product			"""NOL1/NOP2/Sun domain family 6"", ""NOL1/NOP2/Sun domain family, member 6"", ""ARL5B antisense RNA 1"""	NOPD1, ARL5B-AS1			Standard	XM_005252394		Approved	FLJ23743	uc010qcp.1	Q8TEA1	OTTHUMG00000017767	ENST00000377304.4:c.543C>A	10.37:g.18903421G>T			B0YJ54	Silent	SNP	pfam_Fmu/NOL1/Nop2p,pfam_rRNA_MeTrfase_FtsJ_dom,pfam_PUA,superfamily_PUA-like_domain,pfscan_PUA,prints_RCMT	p.R181	ENST00000377304.4	37	c.543	CCDS7130.1	10																																																																																			NSUN6	-	pfam_PUA,superfamily_PUA-like_domain,pfscan_PUA	ENSG00000241058		0.343	NSUN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSUN6	HGNC	protein_coding	OTTHUMT00000047083.1	-	0.00	28	0	G	NM_182543		18903421	-1	tier1	-	no_errors	ENST00000377304	ensembl	human	known	74_37	silent	19.82	89	22	SNP	0.159	T
NUDCD2	134492	genome.wustl.edu	37	5	162884088	162884089	+	Splice_Site	INS	-	-	A			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr5:162884088_162884089insA	ENST00000302764.4	-	3	328		c.e3-2		NUDCD2_ENST00000519395.1_Splice_Site|NUDCD2_ENST00000517501.1_Intron	NM_145266.4	NP_660309.1	Q8WVJ2	NUDC2_HUMAN	NudC domain containing 2							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|kinetochore (GO:0000776)|microtubule cytoskeleton (GO:0015630)				large_intestine(1)|prostate(1)	2	Renal(175;0.000281)	Medulloblastoma(196;0.0207)|all_neural(177;0.0966)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0981)|OV - Ovarian serous cystadenocarcinoma(192;0.183)|Epithelial(171;0.247)		TTCTGTCCTCTAAAAAAAAAAC	0.366																																																	0																																										SO:0001630	splice_region_variant	0			BX538290	CCDS4361.1	5q34	2008-02-05			ENSG00000170584	ENSG00000170584			30535	protein-coding gene	gene with protein product							Standard	NM_145266		Approved	DKFZp686E10109	uc003lze.3	Q8WVJ2	OTTHUMG00000130378	ENST00000302764.4:c.239-2->T	5.37:g.162884098_162884098dupA			B2R4V0	Splice_Site	INS	-	e3-2	ENST00000302764.4	37	c.239-3_239-2	CCDS4361.1	5																																																																																			NUDCD2	-	-	ENSG00000170584		0.366	NUDCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUDCD2	HGNC	protein_coding	OTTHUMT00000252747.3		0.00	9	0	-	NM_145266	Intron	162884089	-1	tier1		no_errors	ENST00000302764	ensembl	human	known	74_37	splice_site_ins	25.00	27	9	INS	0.984:0.001	A
NWD1	284434	genome.wustl.edu	37	19	16902329	16902329	+	Missense_Mutation	SNP	A	A	G			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr19:16902329A>G	ENST00000552788.1	+	12	3109	c.3109A>G	c.(3109-3111)Aag>Gag	p.K1037E	NWD1_ENST00000523826.1_Missense_Mutation_p.K831E|NWD1_ENST00000339803.6_Missense_Mutation_p.K902E|NWD1_ENST00000379808.3_Missense_Mutation_p.K1037E|NWD1_ENST00000524140.2_Missense_Mutation_p.K1037E|NWD1_ENST00000549814.1_Missense_Mutation_p.K1037E			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1037							ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						ACTTCAGGGGAAGCAACATAT	0.542																																																	0													115.0	91.0	99.0					19																	16902329		2203	4300	6503	SO:0001583	missense	0			BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"""WD repeat domain containing"""	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.3109A>G	19.37:g.16902329A>G	ENSP00000447224:p.Lys1037Glu		C9J021|Q68CT3	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_P-loop_NTPase,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.K1037E	ENST00000552788.1	37	c.3109		19	.	.	.	.	.	.	.	.	.	.	A	9.967	1.224413	0.22457	.	.	ENSG00000188039	ENST00000420818;ENST00000524140;ENST00000549814;ENST00000379808;ENST00000523826;ENST00000552788;ENST00000339803	T;T;T;T;T;T	0.39997	1.58;1.05;1.58;3.56;3.56;3.56	5.34	3.26	0.37387	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.885835	0.09901	N	0.741087	T	0.24198	0.0586	N	0.24115	0.695	0.09310	N	1	B;B;B	0.27229	0.049;0.122;0.172	B;B;B	0.25291	0.026;0.059;0.058	T	0.28138	-1.0053	10	0.05620	T	0.96	-12.7136	7.1867	0.25803	0.7672:0.1489:0.0839:0.0	.	1037;1037;902	Q149M9;Q149M9-3;C9J2Y8	NWD1_HUMAN;.;.	E	902;1037;1037;1037;831;1037;902	ENSP00000428579:K1037E;ENSP00000447548:K1037E;ENSP00000369136:K1037E;ENSP00000428955:K831E;ENSP00000447224:K1037E;ENSP00000340159:K902E	ENSP00000340159:K902E	K	+	1	0	NWD1	16763329	0.006000	0.16342	0.001000	0.08648	0.000000	0.00434	1.724000	0.38064	0.037000	0.15575	-1.256000	0.01477	AAG	NWD1	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000188039		0.542	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	NWD1	HGNC	protein_coding	OTTHUMT00000403569.1		0.00	12	0	A	NM_001007525		16902329	+1			no_errors	ENST00000379808	ensembl	human	known	74_37	missense	7.14	26	2	SNP	0.000	G
OBSCN	84033	genome.wustl.edu	37	1	228547658	228547658	+	Intron	SNP	G	G	A			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr1:228547658G>A	ENST00000422127.1	+	80	18705				OBSCN_ENST00000570156.2_Intron|OBSCN_ENST00000366709.4_Silent_p.S3474S|OBSCN_ENST00000284548.11_Silent_p.S6355S|OBSCN_ENST00000366707.4_Intron	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF						apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGAGCTCATCGGGGCATCTCT	0.642																																																	0													20.0	22.0	22.0					1																	228547658		1916	4120	6036	SO:0001627	intron_variant	0			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.18662-2619G>A	1.37:g.228547658G>A			Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_DH-domain,pfam_Fibronectin_type3,pfam_IQ_motif_EF-hand-BS,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Ig-like_dom,pfscan_DH-domain	p.S3474	ENST00000422127.1	37	c.10422	CCDS58065.1	1																																																																																			OBSCN	-	NULL	ENSG00000154358		0.642	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	HGNC	protein_coding			0.00	18	0	G	NM_052843		228547658	+1			no_errors	ENST00000366709	ensembl	human	known	74_37	silent	12.73	47	7	SNP	0.000	A
OMD	4958	genome.wustl.edu	37	9	95177605	95177605	+	Silent	SNP	T	T	C			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr9:95177605T>C	ENST00000375550.4	-	3	1370	c.1095A>G	c.(1093-1095)caA>caG	p.Q365Q	CENPP_ENST00000375587.3_Intron	NM_005014.2	NP_005005.1	Q99983	OMD_HUMAN	osteomodulin	365					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|skin(2)	16						TAGTGCTTCGTTGTTCACCAT	0.353			T	USP6	aneurysmal bone cysts																																			Dom	yes		9	9q22.31	4958	osteomodulin		M	0													221.0	208.0	212.0					9																	95177605		2203	4300	6503	SO:0001819	synonymous_variant	0			AB000114	CCDS6696.1	9q22.31	2008-02-05			ENSG00000127083	ENSG00000127083		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	8134	protein-coding gene	gene with protein product	"""osteoadherin proteoglycan"""						Standard	NM_005014		Approved	osteoadherin, SLRR2C	uc004asd.4	Q99983	OTTHUMG00000020225	ENST00000375550.4:c.1095A>G	9.37:g.95177605T>C			Q5TBF4	Silent	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp	p.Q365	ENST00000375550.4	37	c.1095	CCDS6696.1	9																																																																																			OMD	-	NULL	ENSG00000127083		0.353	OMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OMD	HGNC	protein_coding	OTTHUMT00000053090.1	-	0.00	22	0	T	NM_005014		95177605	-1	tier1	-	no_errors	ENST00000375550	ensembl	human	known	74_37	silent	20.73	65	17	SNP	0.998	C
OR4C5	79346	genome.wustl.edu	37	11	48387258	48387258	+	Missense_Mutation	SNP	C	C	T	rs78030134		TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr11:48387258C>T	ENST00000319813.3	-	1	759	c.760G>A	c.(760-762)Gcc>Acc	p.A254T				Q8NGB2	OR4C5_HUMAN	olfactory receptor, family 4, subfamily C, member 5	254						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)										ATATGGAAGGCGCAGGTAGAG	0.458																																																	0																																										SO:0001583	missense	0					11p11.2	2013-03-27	2004-03-04	2004-03-05	ENSG00000176540	ENSG00000176540		"""GPCR / Class A : Olfactory receptors"""	14702	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily C, member 5 pseudogene"""	OR4C5P			Standard	NG_002247		Approved	OR4C5Q		Q8NGB2	OTTHUMG00000169462	ENST00000319813.3:c.760G>A	11.37:g.48387258C>T	ENSP00000321338:p.Ala254Thr		Q6IFB2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A254T	ENST00000319813.3	37	c.760		11	.	.	.	.	.	.	.	.	.	.	C	9.594	1.126928	0.20959	.	.	ENSG00000176540	ENST00000319813	T	0.36878	1.23	5.45	-1.18	0.09617	.	0.766856	0.11868	N	0.521706	T	0.14270	0.0345	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.25117	-1.0141	7	0.12766	T	0.61	.	2.2861	0.04126	0.1182:0.3925:0.116:0.3733	.	.	.	.	T	254	ENSP00000321338:A254T	ENSP00000321338:A254T	A	-	1	0	OR4C5	48343834	0.000000	0.05858	0.549000	0.28204	0.683000	0.39861	-2.926000	0.00691	-0.081000	0.12662	-0.341000	0.08007	GCC	OR4C5	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000176540		0.458	OR4C5-001	KNOWN	basic|appris_principal	protein_coding	OR4C5	HGNC	protein_coding	OTTHUMT00000404174.1	-	0.00	19	0	C	NG_002247		48387258	-1	tier1	rs78030134	no_errors	ENST00000319813	ensembl	human	known	74_37	missense	40.00	33	22	SNP	0.001	T
ORM1	5004	genome.wustl.edu	37	9	117085825	117085825	+	Missense_Mutation	SNP	C	C	G			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr9:117085825C>G	ENST00000538816.1	+	1	449	c.412C>G	c.(412-414)Cca>Gca	p.P138A	ORM1_ENST00000259396.8_Intron			P02763	A1AG1_HUMAN	orosomucoid 1	0					acute-phase response (GO:0006953)|inflammatory response (GO:0006954)|regulation of immune system process (GO:0002682)|transport (GO:0006810)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				endometrium(2)|large_intestine(4)|lung(2)	8		Myeloproliferative disorder(63;0.163)			Abiraterone(DB05812)|Acenocoumarol(DB01418)|Ajmaline(DB01426)|Alfentanil(DB00802)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aprindine(DB01429)|Bupropion(DB01156)|Canagliflozin(DB08907)|Celecoxib(DB00482)|Chlorpromazine(DB00477)|Desipramine(DB01151)|Disopyramide(DB00280)|Doxazosin(DB00590)|Doxepin(DB01142)|Erlotinib(DB00530)|Fluoxetine(DB00472)|Gefitinib(DB00317)|Imatinib(DB00619)|Imipramine(DB00458)|Ivacaftor(DB08820)|Maprotiline(DB00934)|Mirabegron(DB08893)|Nateglinide(DB00731)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxycodone(DB00497)|Penbutolol(DB01359)|Pethidine(DB00454)|Phenprocoumon(DB00946)|Pitavastatin(DB08860)|Prazosin(DB00457)|Propranolol(DB00571)|Quinidine(DB00908)|Saquinavir(DB01232)|Tacrolimus(DB00864)|Tamsulosin(DB00706)|Telaprevir(DB05521)|Thalidomide(DB01041)|Trazodone(DB00656)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Vismodegib(DB08828)|Warfarin(DB00682)	GCACTGCCCACCAGgggcctc	0.607																																																	0																																										SO:0001583	missense	0				CCDS6803.1	9q32	2013-09-19			ENSG00000229314	ENSG00000229314		"""Lipocalins"""	8498	protein-coding gene	gene with protein product		138600					Standard	NM_000607		Approved		uc004bik.4	P02763	OTTHUMG00000021012	ENST00000538816.1:c.412C>G	9.37:g.117085825C>G	ENSP00000442679:p.Pro138Ala		B7ZKQ5|Q5T539|Q5U067|Q8TC16	Missense_Mutation	SNP	NULL	p.P138A	ENST00000538816.1	37	c.412		9	.	.	.	.	.	.	.	.	.	.	C	1.685	-0.505456	0.04261	.	.	ENSG00000229314	ENST00000538816	T	0.39056	1.1	3.31	0.296	0.15757	.	.	.	.	.	T	0.42154	0.1190	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.40136	-0.9579	6	0.87932	D	0	.	8.2143	0.31503	0.0:0.6784:0.0:0.3216	.	.	.	.	A	138	ENSP00000442679:P138A	ENSP00000442679:P138A	P	+	1	0	ORM1	116125646	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-0.878000	0.04192	-0.150000	0.11195	-1.786000	0.00637	CCA	ORM1	-	NULL	ENSG00000229314		0.607	ORM1-201	KNOWN	basic	protein_coding	ORM1	HGNC	protein_coding		-	0.00	30	0	C			117085825	+1	tier1	-	no_errors	ENST00000538816	ensembl	human	known	74_37	missense	18.18	27	6	SNP	0.000	G
OXER1	165140	genome.wustl.edu	37	2	42990955	42990955	+	Missense_Mutation	SNP	C	C	T	rs369449798		TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr2:42990955C>T	ENST00000378661.2	-	1	446	c.365G>A	c.(364-366)cGg>cAg	p.R122Q		NM_148962.4	NP_683765.1	Q8TDS5	OXER1_HUMAN	oxoeicosanoid (OXE) receptor 1	122					G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cAMP biosynthetic process (GO:0030817)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding (GO:0050648)|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding (GO:0050647)|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding (GO:0050646)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10						GGTCCAGGGCCGCGTGTGGAT	0.617																																																	0								C	GLN/ARG	0,4406		0,0,2203	50.0	51.0	51.0		365	2.7	0.5	2		51	1,8599	1.2+/-3.3	0,1,4299	no	missense	OXER1	NM_148962.4	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	122/424	42990955	1,13005	2203	4300	6503	SO:0001583	missense	0			AB083055	CCDS1810.1	2p22.1	2012-08-10			ENSG00000162881	ENSG00000162881		"""GPCR / Class A : Leukotriene receptors"""	24884	protein-coding gene	gene with protein product	"""5-oxo-ETE acid G-protein-coupled receptor 1"""					12065583, 15001665	Standard	NM_148962		Approved	GPCR, TG1019, GPR170	uc002rss.3	Q8TDS5	OTTHUMG00000128643	ENST00000378661.2:c.365G>A	2.37:g.42990955C>T	ENSP00000367930:p.Arg122Gln		Q86WP7|Q8NGW4	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.R122Q	ENST00000378661.2	37	c.365	CCDS1810.1	2	.	.	.	.	.	.	.	.	.	.	C	12.06	1.823199	0.32237	0.0	1.16E-4	ENSG00000162881	ENST00000378661	T	0.72615	-0.67	3.56	2.68	0.31781	GPCR, rhodopsin-like superfamily (1);	0.095540	0.39407	U	0.001379	T	0.65749	0.2721	L	0.45470	1.425	0.20307	N	0.999917	P	0.50528	0.936	P	0.49140	0.601	T	0.58819	-0.7569	10	0.72032	D	0.01	.	5.7243	0.18004	0.0:0.7534:0.0:0.2466	.	122	Q8TDS5	OXER1_HUMAN	Q	122	ENSP00000367930:R122Q	ENSP00000367930:R122Q	R	-	2	0	OXER1	42844459	0.001000	0.12720	0.506000	0.27664	0.005000	0.04900	0.930000	0.28858	0.706000	0.31912	-0.300000	0.09419	CGG	OXER1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000162881		0.617	OXER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OXER1	HGNC	protein_coding	OTTHUMT00000250514.1		0.00	12	0	C	NM_148962		42990955	-1			no_errors	ENST00000378661	ensembl	human	known	74_37	missense	15.00	34	6	SNP	0.473	T
PALLD	23022	genome.wustl.edu	37	4	169604255	169604255	+	Splice_Site	SNP	G	G	A			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr4:169604255G>A	ENST00000505667.1	+	5	1433		c.e5+1		PALLD_ENST00000335742.7_Splice_Site|PALLD_ENST00000512127.1_Splice_Site|PALLD_ENST00000261509.6_Splice_Site|PALLD_ENST00000333488.4_Splice_Site			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein						cytoskeleton organization (GO:0007010)	actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	muscle alpha-actinin binding (GO:0051371)	p.?(2)		breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		TGTGCAACAGGTAAGTATGCT	0.423									Pancreatic Cancer, Familial Clustering of																												Esophageal Squamous(109;1482 1532 18347 40239 51172)												2	Unknown(2)	prostate(2)											58.0	50.0	53.0					4																	169604255		2203	4300	6503	SO:0001630	splice_region_variant	0	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1	AB023209	CCDS34098.1, CCDS54818.1, CCDS54819.1, CCDS54820.1	4q32.3	2013-01-11			ENSG00000129116	ENSG00000129116		"""Immunoglobulin superfamily / I-set domain containing"""	17068	protein-coding gene	gene with protein product		608092				10231032, 10931874	Standard	NM_001166108		Approved	KIAA0992, SIH002, CGI-151	uc011cjx.2	Q8WX93	OTTHUMG00000161097	ENST00000505667.1:c.1260+1G>A	4.37:g.169604255G>A			B3KTG2|B5MD56|B7ZMM5|Q7L3E0|Q7Z3W0|Q86WE8|Q8N1M2|Q9UGA0|Q9UQF5|Q9Y2J6|Q9Y3E9	Splice_Site	SNP	-	e4+1	ENST00000505667.1	37	c.1260+1	CCDS54818.1	4	.	.	.	.	.	.	.	.	.	.	G	12.93	2.086648	0.36855	.	.	ENSG00000129116	ENST00000261509;ENST00000335742;ENST00000505667;ENST00000508898;ENST00000333488;ENST00000504519;ENST00000512127;ENST00000513245;ENST00000503457	.	.	.	5.94	5.94	0.96194	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3591	0.98849	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PALLD	169840830	1.000000	0.71417	0.998000	0.56505	0.063000	0.16089	7.766000	0.85320	2.816000	0.96949	0.561000	0.74099	.	PALLD	-	-	ENSG00000129116		0.423	PALLD-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	PALLD	HGNC	protein_coding	OTTHUMT00000363762.1	-	0.00	11	0	G	NM_016081	Intron	169604255	+1	tier1	-	no_errors	ENST00000261509	ensembl	human	known	74_37	splice_site	16.22	31	6	SNP	1.000	A
PAQR4	124222	genome.wustl.edu	37	16	3021712	3021712	+	Silent	SNP	G	G	A	rs35149676	byFrequency	TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr16:3021712G>A	ENST00000318782.8	+	3	1015	c.585G>A	c.(583-585)ctG>ctA	p.L195L	PAQR4_ENST00000576565.1_Silent_p.L128L|PKMYT1_ENST00000431515.2_Intron|PAQR4_ENST00000574988.1_Silent_p.L128L|PAQR4_ENST00000572687.1_Silent_p.L121L|PAQR4_ENST00000293978.8_Silent_p.L156L|PKMYT1_ENST00000571102.1_5'Flank	NM_001284513.1|NM_152341.3	NP_001271442.1|NP_689554.2	Q8N4S7	PAQR4_HUMAN	progestin and adipoQ receptor family member IV	195						integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8						GAGTGGGTCTGGGTTCAGGGG	0.687																																																	0													34.0	40.0	38.0					16																	3021712		2198	4298	6496	SO:0001819	synonymous_variant	0				CCDS10485.1, CCDS66911.1, CCDS66912.1, CCDS73814.1	16p13	2008-05-02			ENSG00000162073	ENSG00000162073			26386	protein-coding gene	gene with protein product		614578				12477932	Standard	XM_005255112		Approved	FLJ30002	uc002csj.4	Q8N4S7	OTTHUMG00000128977	ENST00000318782.8:c.585G>A	16.37:g.3021712G>A			A8K5Q8|D3DUA2|D3DUA3|Q8NAS6|Q96NW1	Silent	SNP	pfam_HlyIII-related	p.L195	ENST00000318782.8	37	c.585	CCDS10485.1	16																																																																																			PAQR4	-	pfam_HlyIII-related	ENSG00000162073		0.687	PAQR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAQR4	HGNC	protein_coding	OTTHUMT00000250966.1	-	0.00	46	0	G	NM_152341		3021712	+1	tier1	-	no_errors	ENST00000318782	ensembl	human	known	74_37	silent	6.56	114	8	SNP	1.000	A
PARD3B	117583	genome.wustl.edu	37	2	206050586	206050586	+	Splice_Site	SNP	A	A	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr2:206050586A>T	ENST00000406610.2	+	14	2230	c.2023A>T	c.(2023-2025)Agc>Tgc	p.S675C	PARD3B_ENST00000349953.3_Splice_Site_p.S675C|PARD3B_ENST00000358768.2_Splice_Site_p.S613C|PARD3B_ENST00000351153.1_Splice_Site_p.S675C|PARD3B_ENST00000462231.1_Splice_Site_p.S675C	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	675					cell cycle (GO:0007049)|cell division (GO:0051301)	membrane (GO:0016020)|tight junction (GO:0005923)				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		TTACAGCCACAGGTATTGATA	0.423																																																	0													113.0	101.0	105.0					2																	206050586		1917	4135	6052	SO:0001630	splice_region_variant	0			AB053321	CCDS42804.1, CCDS42805.1, CCDS42806.1	2q33.3	2013-08-28	2013-08-28	2006-09-28	ENSG00000116117	ENSG00000116117			14446	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19"", ""par-3 partitioning defective 3 homolog B (C. elegans)"""	ALS2CR19		11586298, 12459187	Standard	NM_057177		Approved	Par3L, PAR3beta	uc002vap.2	Q8TEW8	OTTHUMG00000154562	ENST00000406610.2:c.2024+1A>T	2.37:g.206050586A>T			E9PE87|Q8IUC7|Q8IUC9|Q96DK9|Q96N09|Q96NX6|Q96NX7|Q96Q29	Missense_Mutation	SNP	pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.S675C	ENST00000406610.2	37	c.2023		2	.	.	.	.	.	.	.	.	.	.	A	18.02	3.530209	0.64860	.	.	ENSG00000116117	ENST00000406610;ENST00000358768;ENST00000351153;ENST00000349953	T;T;T;T	0.13420	2.81;2.59;2.8;2.81	6.03	6.03	0.97812	.	0.216162	0.48767	D	0.000169	T	0.34803	0.0910	M	0.61703	1.905	0.45930	D	0.998763	D;D;D;D;D	0.89917	1.0;1.0;0.999;0.999;1.0	D;D;D;D;D	0.77557	0.989;0.99;0.945;0.965;0.965	T	0.03493	-1.1031	10	0.72032	D	0.01	.	13.9418	0.64059	1.0:0.0:0.0:0.0	.	675;675;675;613;675	Q8TEW8-3;Q8TEW8;E9PE87;Q8TEW8-2;Q8TEW8-5	.;PAR3L_HUMAN;.;.;.	C	675;613;675;675	ENSP00000385848:S675C;ENSP00000351618:S613C;ENSP00000317261:S675C;ENSP00000340280:S675C	ENSP00000340280:S675C	S	+	1	0	PARD3B	205758831	1.000000	0.71417	1.000000	0.80357	0.499000	0.33736	5.222000	0.65277	2.308000	0.77769	0.533000	0.62120	AGC	PARD3B	-	NULL	ENSG00000116117		0.423	PARD3B-001	KNOWN	basic|appris_candidate_longest	protein_coding	PARD3B	HGNC	protein_coding	OTTHUMT00000335992.1	-	0.00	11	0	A	NM_057177	Missense_Mutation	206050586	+1	tier1	-	no_errors	ENST00000406610	ensembl	human	known	74_37	missense	25.00	54	18	SNP	1.000	T
PCDH15	65217	genome.wustl.edu	37	10	55581894	55581894	+	Silent	SNP	C	C	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr10:55581894C>T	ENST00000320301.6	-	33	5986	c.5592G>A	c.(5590-5592)caG>caA	p.Q1864Q	PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000361849.3_Silent_p.Q1866Q|PCDH15_ENST00000437009.1_Silent_p.Q1795Q|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000373957.3_Splice_Site|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395433.1_Silent_p.Q1841Q|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395432.2_Silent_p.Q1824Q|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000395430.1_Silent_p.Q1861Q|PCDH15_ENST00000395445.1_Intron	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1864					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TTGTTGATAGCTGTGTCATAG	0.418										HNSCC(58;0.16)																																							0													233.0	222.0	226.0					10																	55581894		2203	4300	6503	SO:0001819	synonymous_variant	0			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.5592G>A	10.37:g.55581894C>T			A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Splice_Site	SNP	-	e17-1	ENST00000320301.6	37	c.2155-1	CCDS7248.1	10	.	.	.	.	.	.	.	.	.	.	C	8.359	0.832730	0.16820	.	.	ENSG00000150275	ENST00000373957	.	.	.	5.09	-1.59	0.08453	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.826	0.18554	0.0:0.3475:0.3662:0.2863	.	.	.	.	.	-1	.	.	.	-	.	.	PCDH15	55251900	0.000000	0.05858	0.000000	0.03702	0.202000	0.24057	-0.720000	0.04969	-0.518000	0.06452	-0.226000	0.12346	.	PCDH15	-	-	ENSG00000150275		0.418	PCDH15-001	KNOWN	basic|CCDS	protein_coding	PCDH15	HGNC	protein_coding	OTTHUMT00000048121.2		0.00	21	0	C	NM_033056		55581894	-1			no_errors	ENST00000373957	ensembl	human	novel	74_37	splice_site	5.80	65	4	SNP	0.002	T
PCDHA1	56147	genome.wustl.edu	37	5	140166141	140166141	+	Missense_Mutation	SNP	G	G	A			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr5:140166141G>A	ENST00000504120.2	+	1	266	c.266G>A	c.(265-267)cGg>cAg	p.R89Q	PCDHA1_ENST00000378133.3_Missense_Mutation_p.R89Q|PCDHA1_ENST00000394633.3_Missense_Mutation_p.R89Q	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	89	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGAATTCTCGGATCGATCGC	0.582																																																	0													88.0	94.0	92.0					5																	140166141		2203	4300	6503	SO:0001583	missense	0			AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"""Cadherins / Protocadherins : Clustered"""	8663	other	complex locus constituent	"""KIAA0345-like 13"""	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.266G>A	5.37:g.140166141G>A	ENSP00000420840:p.Arg89Gln		O75288|Q9NRT7	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.R89Q	ENST00000504120.2	37	c.266	CCDS54913.1	5	.	.	.	.	.	.	.	.	.	.	g	15.08	2.728054	0.48833	.	.	ENSG00000204970	ENST00000504120;ENST00000394633;ENST00000378133	T;T;T	0.34859	1.34;1.34;1.34	4.31	3.44	0.39384	Cadherin, N-terminal (1);Cadherin (4);Cadherin-like (1);	0.205916	0.24267	U	0.040029	T	0.58949	0.2158	M	0.91872	3.25	0.21719	N	0.999571	D;D;D	0.65815	0.995;0.984;0.982	P;P;P	0.59012	0.85;0.697;0.766	T	0.55554	-0.8123	10	0.87932	D	0	.	7.7599	0.28946	0.0846:0.0:0.7556:0.1598	.	89;89;89	Q9Y5I3;Q9Y5I3-2;Q9Y5I3-3	PCDA1_HUMAN;.;.	Q	89	ENSP00000420840:R89Q;ENSP00000378129:R89Q;ENSP00000367373:R89Q	ENSP00000367373:R89Q	R	+	2	0	PCDHA1	140146325	0.792000	0.28813	1.000000	0.80357	0.329000	0.28539	1.737000	0.38197	0.947000	0.37659	-0.143000	0.13931	CGG	PCDHA1	-	pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	ENSG00000204970		0.582	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDHA1	HGNC	protein_coding	OTTHUMT00000389127.1	-	0.00	37	0	G	NM_018900		140166141	+1	tier1	-	no_errors	ENST00000504120	ensembl	human	known	74_37	missense	23.16	73	22	SNP	0.994	A
PCDHA9	9752	genome.wustl.edu	37	5	140229433	140229433	+	Silent	SNP	C	C	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr5:140229433C>T	ENST00000532602.1	+	1	2386	c.1353C>T	c.(1351-1353)aaC>aaT	p.N451N	PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000378122.3_Silent_p.N451N|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	451	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAACGACAACGCACCAGCGT	0.672																																					Melanoma(55;1800 1972 14909)												0													90.0	83.0	85.0					5																	140229433		2196	4270	6466	SO:0001819	synonymous_variant	0			AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.1353C>T	5.37:g.140229433C>T			O15053|Q2M3S5	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.N451	ENST00000532602.1	37	c.1353	CCDS54920.1	5																																																																																			PCDHA9	-	superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	ENSG00000204961		0.672	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA9	HGNC	protein_coding	OTTHUMT00000372896.2	-	0.00	50	0	C	NM_031857		140229433	+1	tier1	-	no_errors	ENST00000532602	ensembl	human	known	74_37	silent	20.00	116	29	SNP	0.993	T
PCDHGB3	56102	genome.wustl.edu	37	5	140750854	140750854	+	Missense_Mutation	SNP	C	C	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr5:140750854C>T	ENST00000576222.1	+	1	1024	c.893C>T	c.(892-894)aCg>aTg	p.T298M	PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_5'Flank|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3	298	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACAGTAAAACGGGGGAACTC	0.453																																																	0													142.0	144.0	143.0					5																	140750854		1981	4171	6152	SO:0001583	missense	0			AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.893C>T	5.37:g.140750854C>T	ENSP00000461862:p.Thr298Met		A7E229|Q9Y5C7	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.T298M	ENST00000576222.1	37	c.893	CCDS58980.1	5																																																																																			PCDHGB3	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000262209		0.453	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB3	HGNC	protein_coding	OTTHUMT00000437094.1		0.00	13	0	C	NM_018924		140750854	+1			no_errors	ENST00000576222	ensembl	human	known	74_37	missense	14.81	23	4	SNP	0.010	T
PCDHGB7	56099	genome.wustl.edu	37	5	140799290	140799290	+	Nonsense_Mutation	SNP	C	C	T	rs373666366		TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr5:140799290C>T	ENST00000398594.2	+	1	1864	c.1864C>T	c.(1864-1866)Cga>Tga	p.R622*	PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA11_ENST00000398587.2_5'Flank|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA11_ENST00000518882.1_5'Flank|PCDHGA10_ENST00000398610.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018927.3	NP_061750.1	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7	622	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTGGGGCTGCGAACAGGCGA	0.657																																																	0													46.0	52.0	50.0					5																	140799290		2188	4285	6473	SO:0001587	stop_gained	0			AF152523	CCDS47293.1, CCDS75344.1	5q31	2010-01-26			ENSG00000254122	ENSG00000254122		"""Cadherins / Protocadherins : Clustered"""	8714	other	protocadherin	"""cadherin ME6"""	606304				10380929	Standard	NM_032101		Approved	ME6, PCDH-GAMMA-B7		Q9Y5F8	OTTHUMG00000164054	ENST00000398594.2:c.1864C>T	5.37:g.140799290C>T	ENSP00000381594:p.Arg622*		Q9UN63	Nonsense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R622*	ENST00000398594.2	37	c.1864	CCDS47293.1	5	.	.	.	.	.	.	.	.	.	.	c	20.2	3.954270	0.73902	.	.	ENSG00000254122	ENST00000398594	.	.	.	5.57	5.57	0.84162	.	0.000000	0.33691	U	0.004648	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	.	12.5213	0.56060	0.0:0.9231:0.0:0.0769	.	.	.	.	X	622	.	ENSP00000381594:R622X	R	+	1	2	PCDHGB7	140779474	0.000000	0.05858	1.000000	0.80357	0.046000	0.14306	1.339000	0.33885	2.619000	0.88677	0.491000	0.48974	CGA	PCDHGB7	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000254122		0.657	PCDHGB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB7	HGNC	protein_coding	OTTHUMT00000376973.1	-	0.00	12	0	C	NM_018927		140799290	+1	tier1	-	no_errors	ENST00000398594	ensembl	human	known	74_37	nonsense	23.53	38	12	SNP	1.000	T
PCNT	5116	genome.wustl.edu	37	21	47783684	47783684	+	Missense_Mutation	SNP	C	C	T	rs201895762	byFrequency	TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr21:47783684C>T	ENST00000359568.5	+	14	2551	c.2444C>T	c.(2443-2445)aCg>aTg	p.T815M	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	815					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					AGGTCCTTGACGGAGCAGCAG	0.592													C|||	3	0.000599042	0.0008	0.0	5008	,	,		17719	0.0		0.0	False		,,,				2504	0.002																0													58.0	61.0	60.0					21																	47783684		2203	4300	6503	SO:0001583	missense	0			AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.2444C>T	21.37:g.47783684C>T	ENSP00000352572:p.Thr815Met		O43152|Q7Z7C9	Missense_Mutation	SNP	pfam_PACT_domain	p.T815M	ENST00000359568.5	37	c.2444	CCDS33592.1	21	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	2.412	-0.335029	0.05278	.	.	ENSG00000160299	ENST00000359568	T	0.23348	1.91	5.26	-10.5	0.00291	.	3.825560	0.00832	N	0.001669	T	0.10637	0.0260	N	0.14661	0.345	0.09310	N	1	B;B	0.27498	0.029;0.18	B;B	0.14578	0.003;0.011	T	0.11203	-1.0597	10	0.44086	T	0.13	.	3.0312	0.06108	0.2932:0.3664:0.2374:0.103	.	697;815	O95613-2;O95613	.;PCNT_HUMAN	M	815	ENSP00000352572:T815M	ENSP00000352572:T815M	T	+	2	0	PCNT	46608112	0.000000	0.05858	0.000000	0.03702	0.132000	0.20833	-0.474000	0.06607	-3.250000	0.00204	-1.105000	0.02106	ACG	PCNT	-	NULL	ENSG00000160299		0.592	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNT	HGNC	protein_coding	OTTHUMT00000207336.1		0.00	9	0	C	NM_006031		47783684	+1			no_errors	ENST00000359568	ensembl	human	known	74_37	missense	8.33	22	2	SNP	0.000	T
PDLIM1	9124	genome.wustl.edu	37	10	97031484	97031484	+	Missense_Mutation	SNP	C	C	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr10:97031484C>T	ENST00000329399.6	-	2	262	c.154G>A	c.(154-156)Gcc>Acc	p.A52T	PDLIM1_ENST00000477757.1_Intron	NM_020992.2	NP_066272.1	O00151	PDLI1_HUMAN	PDZ and LIM domain 1	52	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|skin(2)	10		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		CCATCAATGGCTGTGATTACA	0.438																																																	0													161.0	148.0	152.0					10																	97031484		2203	4300	6503	SO:0001583	missense	0			U90878	CCDS7441.1	10q23.1	2008-07-29	2008-07-29		ENSG00000107438	ENSG00000107438			2067	protein-coding gene	gene with protein product	"""carboxyl terminal LIM domain protein 1"", ""elfin"""	605900	"""PDZ and LIM domain 1 (elfin)"""	CLIM1		10861853	Standard	NM_020992		Approved	CLP-36, hCLIM1, CLP36	uc001kkh.4	O00151	OTTHUMG00000018810	ENST00000329399.6:c.154G>A	10.37:g.97031484C>T	ENSP00000360305:p.Ala52Thr		B2RBS6|Q5VZH5|Q9BPZ9	Missense_Mutation	SNP	pfam_PDZ,pfam_Znf_LIM,superfamily_PDZ,smart_PDZ,smart_ZASP,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ	p.A52T	ENST00000329399.6	37	c.154	CCDS7441.1	10	.	.	.	.	.	.	.	.	.	.	C	19.43	3.826682	0.71143	.	.	ENSG00000107438	ENST00000329399	T	0.29655	1.56	6.07	6.07	0.98685	PDZ/DHR/GLGF (4);	0.092424	0.85682	D	0.000000	T	0.34600	0.0903	M	0.68952	2.095	0.58432	D	0.999999	B	0.33807	0.426	B	0.34093	0.175	T	0.15521	-1.0434	10	0.72032	D	0.01	-18.7696	13.0052	0.58701	0.1611:0.8389:0.0:0.0	.	52	O00151	PDLI1_HUMAN	T	52	ENSP00000360305:A52T	ENSP00000360305:A52T	A	-	1	0	PDLIM1	97021474	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.257000	0.43240	2.890000	0.99128	0.650000	0.86243	GCC	PDLIM1	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000107438		0.438	PDLIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDLIM1	HGNC	protein_coding	OTTHUMT00000049508.1		0.00	16	0	C			97031484	-1			no_errors	ENST00000329399	ensembl	human	known	74_37	missense	5.41	70	4	SNP	1.000	T
PGC	5225	genome.wustl.edu	37	6	41712488	41712488	+	Missense_Mutation	SNP	C	C	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr6:41712488C>T	ENST00000373025.3	-	2	180	c.118G>A	c.(118-120)Ggg>Agg	p.G40R	PGC_ENST00000425343.2_Missense_Mutation_p.G40R	NM_002630.3	NP_002621.1	P20142	PEPC_HUMAN	progastricsin (pepsinogen C)	40				GE -> ED (in Ref. 10; AA sequence). {ECO:0000305}.	digestion (GO:0007586)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|skin(1)	16	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			AGGAACTCCCCCAGCAAGCCC	0.537																																																	0													79.0	67.0	71.0					6																	41712488		2203	4300	6503	SO:0001583	missense	0				CCDS4859.1, CCDS55000.1	6p21.1	2012-10-02			ENSG00000096088	ENSG00000096088	3.4.23.3		8890	protein-coding gene	gene with protein product		169740					Standard	NM_002630		Approved		uc003ora.2	P20142	OTTHUMG00000014683	ENST00000373025.3:c.118G>A	6.37:g.41712488C>T	ENSP00000362116:p.Gly40Arg		B4DVZ3|Q5T3D7|Q5T3D8	Missense_Mutation	SNP	pfam_Aspartic_peptidase,pfam_Aspartic_peptidase_N,superfamily_Peptidase_aspartic_dom,prints_Aspartic_peptidase	p.G40R	ENST00000373025.3	37	c.118	CCDS4859.1	6	.	.	.	.	.	.	.	.	.	.	C	4.507	0.094071	0.08632	.	.	ENSG00000096088	ENST00000373025;ENST00000424183;ENST00000394278;ENST00000356667;ENST00000425343;ENST00000415707	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	5.42	-2.09	0.07232	Peptidase aspartic (1);Propeptide, peptidase A1 (1);	1.077800	0.06983	N	0.820227	T	0.11153	0.0272	L	0.35854	1.095	0.09310	N	1	B	0.02656	0.0	B	0.10450	0.005	T	0.34527	-0.9825	10	0.62326	D	0.03	.	1.2015	0.01886	0.2144:0.3218:0.1056:0.3582	.	40	P20142	PEPC_HUMAN	R	40;40;40;40;40;44	ENSP00000362116:G40R;ENSP00000349094:G40R;ENSP00000405094:G40R;ENSP00000399429:G44R	ENSP00000349094:G40R	G	-	1	0	PGC	41820466	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.404000	0.07205	-0.392000	0.07751	-0.158000	0.13435	GGG	PGC	-	pfam_Aspartic_peptidase_N,superfamily_Peptidase_aspartic_dom	ENSG00000096088		0.537	PGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGC	HGNC	protein_coding	OTTHUMT00000040521.2	-	0.00	28	0	C			41712488	-1	tier1	-	no_errors	ENST00000373025	ensembl	human	known	74_37	missense	8.33	55	5	SNP	0.000	T
PERP	64065	genome.wustl.edu	37	6	138417551	138417551	+	Missense_Mutation	SNP	G	G	A			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr6:138417551G>A	ENST00000421351.3	-	2	465	c.295C>T	c.(295-297)Ctc>Ttc	p.L99F		NM_022121.4	NP_071404.2	Q96FX8	PERP_HUMAN	PERP, TP53 apoptosis effector	99					activation of cysteine-type endopeptidase activity (GO:0097202)|amelogenesis (GO:0097186)|desmosome organization (GO:0002934)|heterotypic cell-cell adhesion (GO:0034113)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of proteolysis (GO:0045862)	cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)				breast(1)|cervix(1)|endometrium(1)|lung(1)|prostate(1)	5	Breast(32;0.0799)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000878)|OV - Ovarian serous cystadenocarcinoma(155;0.000997)		GGTCCACAGAGGGCGAAGAAG	0.502																																																	0													75.0	70.0	72.0					6																	138417551		2203	4300	6503	SO:0001583	missense	0			AF317550	CCDS5188.1	6q24	2014-04-29			ENSG00000112378	ENSG00000112378			17637	protein-coding gene	gene with protein product	"""keratinocyte associated protein 1"""	609301				11062687	Standard	NM_022121		Approved	PIGPC1, dJ496H19.1, KCP1, THW, KRTCAP1	uc003qht.2	Q96FX8	OTTHUMG00000015668	ENST00000421351.3:c.295C>T	6.37:g.138417551G>A	ENSP00000397157:p.Leu99Phe		B2RB73|E1P590|Q8IWS3|Q8N1J6|Q8NC16|Q9H1C5|Q9H230	Missense_Mutation	SNP	pfam_PMP22/EMP/MP20/Claudin	p.L99F	ENST00000421351.3	37	c.295	CCDS5188.1	6	.	.	.	.	.	.	.	.	.	.	G	15.80	2.941109	0.53079	.	.	ENSG00000112378	ENST00000421351;ENST00000265603	D	0.90444	-2.67	5.5	5.5	0.81552	.	0.191405	0.47093	D	0.000259	T	0.81564	0.4849	L	0.37850	1.14	0.58432	D	0.999999	P	0.38617	0.64	B	0.41510	0.359	T	0.79505	-0.1776	10	0.22706	T	0.39	-48.1711	12.2937	0.54833	0.0778:0.0:0.9222:0.0	.	99	Q96FX8	PERP_HUMAN	F	99;81	ENSP00000397157:L99F	ENSP00000265603:L81F	L	-	1	0	PERP	138459244	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.676000	0.61627	2.758000	0.94735	0.561000	0.74099	CTC	PERP	-	pfam_PMP22/EMP/MP20/Claudin	ENSG00000112378		0.502	PERP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PERP	HGNC	protein_coding	OTTHUMT00000042423.2		0.00	12	0	G	NM_022121		138417551	-1			no_errors	ENST00000421351	ensembl	human	known	74_37	missense	5.41	35	2	SNP	1.000	A
PGR	5241	genome.wustl.edu	37	11	100999555	100999555	+	Missense_Mutation	SNP	C	C	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr11:100999555C>T	ENST00000325455.5	-	1	1700	c.247G>A	c.(247-249)Gtg>Atg	p.V83M	PGR_ENST00000534013.1_Intron|PGR_ENST00000263463.5_Missense_Mutation_p.V83M	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	83	Modulating, Pro-Rich.				cell-cell signaling (GO:0007267)|epithelial cell maturation (GO:0002070)|gene expression (GO:0010467)|negative regulation of gene expression (GO:0010629)|ovulation from ovarian follicle (GO:0001542)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone receptor signaling pathway (GO:0050847)|regulation of epithelial cell proliferation (GO:0050678)|signal transduction (GO:0007165)|tertiary branching involved in mammary gland duct morphogenesis (GO:0060748)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Allylestrenol(DB01431)|Danazol(DB01406)|Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluticasone Propionate(DB00588)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Megestrol acetate(DB00351)|Mifepristone(DB00834)|Norelgestromin(DB06713)|Norethindrone(DB00717)|Norgestimate(DB00957)|Progesterone(DB00396)|Spironolactone(DB00421)	GCGCCCTCCACGTCCGACAGC	0.612																																					Pancreas(124;2271 2354 21954 22882)												0													67.0	60.0	62.0					11																	100999555		2203	4300	6503	SO:0001583	missense	0			M15716	CCDS8310.1, CCDS59229.1	11q22-q23	2013-01-16			ENSG00000082175	ENSG00000082175		"""Nuclear hormone receptors"""	8910	protein-coding gene	gene with protein product		607311					Standard	NM_000926		Approved	PR, NR3C3	uc001pgh.2	P06401	OTTHUMG00000167531	ENST00000325455.5:c.247G>A	11.37:g.100999555C>T	ENSP00000325120:p.Val83Met		A7LQ08|A7X8B0|B4E3T0|Q8TDS3|Q9UPF7	Missense_Mutation	SNP	pfam_Progest_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Progest_rcpt,prints_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt	p.V83M	ENST00000325455.5	37	c.247	CCDS8310.1	11	.	.	.	.	.	.	.	.	.	.	C	15.19	2.759822	0.49468	.	.	ENSG00000082175	ENST00000325455;ENST00000263463;ENST00000537623	T;T	0.09163	3.01;3.01	4.2	4.2	0.49525	.	0.342931	0.21143	N	0.079457	T	0.31167	0.0788	M	0.78049	2.395	0.32384	N	0.554119	D;D	0.89917	1.0;1.0	D;D	0.68353	0.957;0.957	T	0.41928	-0.9481	10	0.72032	D	0.01	.	11.931	0.52847	0.0:1.0:0.0:0.0	.	83;83	Q8TDS3;P06401	.;PRGR_HUMAN	M	83	ENSP00000325120:V83M;ENSP00000263463:V83M	ENSP00000263463:V83M	V	-	1	0	PGR	100504765	0.029000	0.19370	0.967000	0.41034	0.465000	0.32709	2.483000	0.45233	2.176000	0.68965	0.561000	0.74099	GTG	PGR	-	pfam_Progest_rcpt	ENSG00000082175		0.612	PGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGR	HGNC	protein_coding	OTTHUMT00000394934.1		0.00	21	0	C			100999555	-1			no_errors	ENST00000325455	ensembl	human	known	74_37	missense	6.31	193	13	SNP	0.956	T
PHF13	148479	genome.wustl.edu	37	1	6682342	6682342	+	3'UTR	SNP	A	A	G			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr1:6682342A>G	ENST00000377648.4	+	0	1930				THAP3_ENST00000377627.3_5'Flank|THAP3_ENST00000054650.4_5'Flank|PHF13_ENST00000495385.1_3'UTR|THAP3_ENST00000307896.6_5'Flank	NM_153812.2	NP_722519.2	Q86YI8	PHF13_HUMAN	PHD finger protein 13						chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(1)|lung(3)	7	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;1.46e-33)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0642)		CAATGTGGCCACTTCTCTGTG	0.547																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AK027492	CCDS85.1	1p36.23	2013-01-28			ENSG00000116273	ENSG00000116273		"""Zinc fingers, PHD-type"""	22983	protein-coding gene	gene with protein product							Standard	NM_153812		Approved	MGC43399	uc001aob.4	Q86YI8	OTTHUMG00000001439	ENST00000377648.4:c.*645A>G	1.37:g.6682342A>G			B3KUQ7|Q59FB6|Q5TH65|Q8N551|Q9UJP2	RNA	SNP	-	NULL	ENST00000377648.4	37	NULL	CCDS85.1	1																																																																																			PHF13	-	-	ENSG00000116273		0.547	PHF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF13	HGNC	protein_coding	OTTHUMT00000004201.1	-	0.00	25	0	A	NM_153812		6682342	+1	tier1	-	no_errors	ENST00000495385	ensembl	human	known	74_37	rna	18.75	117	27	SNP	0.000	G
PKLR	5313	genome.wustl.edu	37	1	155261729	155261729	+	Splice_Site	SNP	C	C	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr1:155261729C>T	ENST00000342741.4	-	10	1475		c.e10-1		PKLR_ENST00000392414.3_Splice_Site	NM_000298.5	NP_000289.1	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC						ATP biosynthetic process (GO:0006754)|carbohydrate metabolic process (GO:0005975)|cellular response to insulin stimulus (GO:0032869)|endocrine pancreas development (GO:0031018)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|positive regulation of cellular metabolic process (GO:0031325)|pyruvate biosynthetic process (GO:0042866)|response to ATP (GO:0033198)|response to cAMP (GO:0051591)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to hypoxia (GO:0001666)|response to lithium ion (GO:0010226)|response to nutrient (GO:0007584)|response to other organism (GO:0051707)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|potassium ion binding (GO:0030955)|pyruvate kinase activity (GO:0004743)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	CTGGGCTGAGCTGGAGGAGGC	0.577																																																	0													37.0	35.0	36.0					1																	155261729		2203	4300	6503	SO:0001630	splice_region_variant	0			BC025737, M15465	CCDS1109.1, CCDS44240.1	1q22	2012-10-02			ENSG00000143627	ENSG00000143627	2.7.1.40		9020	protein-coding gene	gene with protein product		609712				3566732	Standard	NM_000298		Approved		uc001fkb.4	P30613	OTTHUMG00000035875	ENST00000342741.4:c.1437-1G>A	1.37:g.155261729C>T			O75758|P11973	Splice_Site	SNP	-	e10-1	ENST00000342741.4	37	c.1437-1	CCDS1109.1	1	.	.	.	.	.	.	.	.	.	.	C	16.62	3.173303	0.57584	.	.	ENSG00000143627	ENST00000423816;ENST00000392414;ENST00000342741;ENST00000271946	.	.	.	4.85	3.94	0.45596	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.1881	0.48669	0.0:0.9103:0.0:0.0897	.	.	.	.	.	-1	.	.	.	-	.	.	PKLR	153528353	1.000000	0.71417	0.924000	0.36721	0.663000	0.39108	7.462000	0.80851	1.410000	0.46936	-0.251000	0.11542	.	PKLR	-	-	ENSG00000143627		0.577	PKLR-001	KNOWN	basic|CCDS	protein_coding	PKLR	HGNC	protein_coding	OTTHUMT00000087407.2		0.00	13	0	C	NM_000298	Intron	155261729	-1			no_errors	ENST00000342741	ensembl	human	known	74_37	splice_site	12.90	27	4	SNP	1.000	T
PLCD1	5333	genome.wustl.edu	37	3	38058149	38058149	+	Silent	SNP	G	G	A			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr3:38058149G>A	ENST00000334661.4	-	3	483	c.261C>T	c.(259-261)ttC>ttT	p.F87F	Y_RNA_ENST00000363709.1_RNA|PLCD1_ENST00000479619.1_5'UTR|PLCD1_ENST00000463876.1_Silent_p.F108F	NM_006225.3	NP_006216.2	P51178	PLCD1_HUMAN	phospholipase C, delta 1	87	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				angiogenesis (GO:0001525)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|labyrinthine layer blood vessel development (GO:0060716)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTPase activating protein binding (GO:0032794)|phosphatidic acid binding (GO:0070300)|phosphatidylinositol phosphate binding (GO:1901981)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylserine binding (GO:0001786)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		CATCACGGGCGAACTTCTCCA	0.602																																																	0													73.0	69.0	70.0					3																	38058149		2202	4300	6502	SO:0001819	synonymous_variant	0				CCDS2671.1, CCDS46793.1	3p22-p21.3	2013-01-10			ENSG00000187091	ENSG00000187091	3.1.4.11	"""EF-hand domain containing"""	9060	protein-coding gene	gene with protein product		602142				9345909	Standard	NM_001130964		Approved		uc003chm.3	P51178	OTTHUMG00000130813	ENST00000334661.4:c.261C>T	3.37:g.38058149G>A			B3KR14|Q86VN8	Silent	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_EF_hand_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_EF_hand_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.F108	ENST00000334661.4	37	c.324	CCDS2671.1	3																																																																																			PLCD1	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000187091		0.602	PLCD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLCD1	HGNC	protein_coding	OTTHUMT00000253359.2	-	0.00	12	0	G			38058149	-1	tier1	-	no_errors	ENST00000463876	ensembl	human	known	74_37	silent	20.00	20	5	SNP	0.999	A
PMS1	5378	genome.wustl.edu	37	2	190670539	190670540	+	Intron	INS	-	-	A	rs555414470|rs397844233|rs3214425|rs397751218	byFrequency	TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr2:190670539_190670540insA	ENST00000441310.2	+	4	651				PMS1_ENST00000418224.3_Intron|PMS1_ENST00000447232.2_Intron|PMS1_ENST00000409985.1_Frame_Shift_Ins_p.K160fs|PMS1_ENST00000421722.1_Intron|PMS1_ENST00000409823.3_Intron|PMS1_ENST00000374826.4_Intron|PMS1_ENST00000432292.3_Intron	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)						ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)	MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|mismatched DNA binding (GO:0030983)|single-stranded DNA binding (GO:0003697)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			ATTGTTGGTTTAAAAAAAAAAA	0.347			"""Mis, N"""			"""colorectal, endometrial, ovarian"""		Direct reversal of damage;Mismatch excision repair (MMR)					|||unknown(HR)	1078	0.215256	0.2912	0.2291	5008	,	,		16690	0.2173		0.1958	False		,,,				2504	0.1207						yes	Rec		Hereditary non-polyposis colorectal cancer	2	2q31-q33	5378	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)		E	0																																										SO:0001627	intron_variant	0				CCDS2302.1, CCDS46473.1, CCDS46474.1, CCDS74615.1	2q31-q33	2014-09-17	2001-11-28		ENSG00000064933	ENSG00000064933			9121	protein-coding gene	gene with protein product		600258	"""postmeiotic segregation increased (S. cerevisiae) 1"""	PMSL1		8072530	Standard	NM_000534		Approved		uc002urh.4	P54277	OTTHUMG00000132664	ENST00000441310.2:c.418+59->A	2.37:g.190670550_190670550dupA			D3DPI1|Q4VAL4|Q5FBZ3|Q5FBZ6|Q5FBZ8	Frame_Shift_Ins	INS	pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd	p.K163fs	ENST00000441310.2	37	c.477_478	CCDS2302.1	2																																																																																			PMS1	-	NULL	ENSG00000064933		0.347	PMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PMS1	HGNC	protein_coding	OTTHUMT00000255918.2		0.00	12	0	-			190670540	+1	tier1		no_errors	ENST00000409985	ensembl	human	novel	74_37	frame_shift_ins	32.84	45	22	INS	0.005:0.001	A
PNPLA8	50640	genome.wustl.edu	37	7	108128261	108128261	+	Missense_Mutation	SNP	G	G	A			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr7:108128261G>A	ENST00000422087.1	-	10	2226	c.1820C>T	c.(1819-1821)gCc>gTc	p.A607V	PNPLA8_ENST00000426128.2_Intron|PNPLA8_ENST00000436062.1_Missense_Mutation_p.A607V|PNPLA8_ENST00000257694.8_Missense_Mutation_p.A607V|PNPLA8_ENST00000388728.5_Intron|PNPLA8_ENST00000453144.1_Missense_Mutation_p.A507V	NM_015723.3	NP_056538.1	Q9NP80	PLPL8_HUMAN	patatin-like phospholipase domain containing 8	607	Patatin.				arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|cell death (GO:0008219)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|linoleic acid metabolic process (GO:0043651)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylcholine catabolic process (GO:0034638)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylethanolamine catabolic process (GO:0046338)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|calcium-independent phospholipase A2 activity (GO:0047499)|lysophospholipase activity (GO:0004622)			breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						AGCAGATGAGGCTCTAATGGC	0.378																																																	0													75.0	72.0	73.0					7																	108128261		2203	4300	6503	SO:0001583	missense	0			AF217519	CCDS34733.1, CCDS59075.1, CCDS59508.1	7q31	2012-07-31			ENSG00000135241	ENSG00000135241		"""Patatin-like phospholipase domain containing"""	28900	protein-coding gene	gene with protein product		612123				10744668, 10833412, 16799181, 19029121	Standard	NM_015723		Approved	IPLA2G, IPLA2-2, iPLA2gamma	uc003vfj.2	Q9NP80	OTTHUMG00000154870	ENST00000422087.1:c.1820C>T	7.37:g.108128261G>A	ENSP00000410804:p.Ala607Val		A4D0S1|C9JZI4|O95035|Q8N3I3|Q9H7T5|Q9NR17|Q9NUN2|Q9NZ79	Missense_Mutation	SNP	pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_ARM-type_fold	p.A607V	ENST00000422087.1	37	c.1820	CCDS34733.1	7	.	.	.	.	.	.	.	.	.	.	G	36	5.763131	0.96906	.	.	ENSG00000135241	ENST00000257694;ENST00000422087;ENST00000453144;ENST00000436062;ENST00000453085	D;D;D;D;D	0.87029	-2.2;-2.2;-2.2;-2.2;-2.2	5.97	5.97	0.96955	Acyl transferase/acyl hydrolase/lysophospholipase (1);Patatin/Phospholipase A2-related (1);	0.000000	0.85682	D	0.000000	D	0.95395	0.8505	M	0.92604	3.325	0.80722	D	1	D	0.76494	0.999	D	0.73708	0.981	D	0.95501	0.8577	10	0.72032	D	0.01	.	20.4135	0.99023	0.0:0.0:1.0:0.0	.	607	Q9NP80	PLPL8_HUMAN	V	607;607;507;607;507	ENSP00000257694:A607V;ENSP00000410804:A607V;ENSP00000387789:A507V;ENSP00000406779:A607V;ENSP00000402274:A507V	ENSP00000257694:A607V	A	-	2	0	PNPLA8	107915497	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.414000	0.97362	2.835000	0.97688	0.591000	0.81541	GCC	PNPLA8	-	pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase	ENSG00000135241		0.378	PNPLA8-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PNPLA8	HGNC	protein_coding	OTTHUMT00000337475.1	-	0.00	12	0	G	NM_015723		108128261	-1	tier1	-	no_errors	ENST00000257694	ensembl	human	known	74_37	missense	19.67	49	12	SNP	1.000	A
PPARGC1A	10891	genome.wustl.edu	37	4	23830118	23830118	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr4:23830118G>T	ENST00000264867.2	-	5	781	c.662C>A	c.(661-663)cCt>cAt	p.P221H	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	221					androgen metabolic process (GO:0008209)|androgen receptor signaling pathway (GO:0030521)|brown fat cell differentiation (GO:0050873)|cellular glucose homeostasis (GO:0001678)|cellular respiration (GO:0045333)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|cellular response to nitrite (GO:0071250)|cellular response to oxidative stress (GO:0034599)|cellular response to thyroid hormone stimulus (GO:0097067)|cellular response to tumor necrosis factor (GO:0071356)|circadian regulation of gene expression (GO:0032922)|digestion (GO:0007586)|fatty acid oxidation (GO:0019395)|flavone metabolic process (GO:0051552)|galactose metabolic process (GO:0006012)|gluconeogenesis (GO:0006094)|mitochondrion organization (GO:0007005)|mRNA processing (GO:0006397)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of receptor activity (GO:2000272)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of cellular respiration (GO:1901857)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of histone acetylation (GO:0035066)|positive regulation of mitochondrial DNA metabolic process (GO:1901860)|positive regulation of mitochondrion organization (GO:0010822)|positive regulation of muscle tissue development (GO:1901863)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|regulation of circadian rhythm (GO:0042752)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|response to cold (GO:0009409)|response to epinephrine (GO:0071871)|response to leucine (GO:0043201)|response to muscle activity (GO:0014850)|response to norepinephrine (GO:0071873)|response to starvation (GO:0042594)|response to statin (GO:0036273)|RNA splicing (GO:0008380)|temperature homeostasis (GO:0001659)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytosol (GO:0005829)|DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				TTTGGTGTGAGGAGGGTCATC	0.473																																					Esophageal Squamous(29;694 744 13796 34866 44181)												0													389.0	351.0	364.0					4																	23830118		2203	4300	6503	SO:0001583	missense	0			AF106698	CCDS3429.1	4p15.1	2013-02-12	2006-10-17	2004-02-04	ENSG00000109819	ENSG00000109819		"""RNA binding motif (RRM) containing"""	9237	protein-coding gene	gene with protein product		604517	"""peroxisome proliferative activated receptor, gamma, coactivator 1"", ""peroxisome proliferative activated receptor, gamma, coactivator 1, alpha"""	PPARGC1		10585775	Standard	NM_013261		Approved	PGC1, PGC1A	uc003gqs.3	Q9UBK2	OTTHUMG00000097747	ENST00000264867.2:c.662C>A	4.37:g.23830118G>T	ENSP00000264867:p.Pro221His		B7Z406|G8DM16|I3RTT5|I3RTT6|I3RTT7|I3RTT8|I3RTT9|Q3LIG1|Q4W5M7|Q9UN32	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.P221H	ENST00000264867.2	37	c.662	CCDS3429.1	4	.	.	.	.	.	.	.	.	.	.	G	19.03	3.748587	0.69533	.	.	ENSG00000109819	ENST00000264867	T	0.24538	1.85	6.17	6.17	0.99709	.	0.051131	0.85682	D	0.000000	T	0.52468	0.1736	M	0.76328	2.33	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.29243	-1.0018	10	0.14656	T	0.56	-7.8407	20.8794	0.99867	0.0:0.0:1.0:0.0	.	221	Q9UBK2	PRGC1_HUMAN	H	221	ENSP00000264867:P221H	ENSP00000264867:P221H	P	-	2	0	PPARGC1A	23439216	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.228000	0.72288	2.941000	0.99782	0.655000	0.94253	CCT	PPARGC1A	-	NULL	ENSG00000109819		0.473	PPARGC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPARGC1A	HGNC	protein_coding	OTTHUMT00000214976.1		0.00	20	0	G	NM_013261		23830118	-1			no_errors	ENST00000264867	ensembl	human	known	74_37	missense	5.10	93	5	SNP	1.000	T
PPIA	5478	genome.wustl.edu	37	7	44839010	44839010	+	Silent	SNP	C	C	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr7:44839010C>T	ENST00000468812.1	+	3	165	c.120C>T	c.(118-120)agC>agT	p.S40S	PPIA_ENST00000451562.1_Silent_p.S40S|PPIA_ENST00000489459.1_5'UTR|PPIA_ENST00000355968.6_5'UTR|PPIA_ENST00000480603.1_3'UTR	NM_021130.3	NP_066953.1	P62937	PPIA_HUMAN	peptidylprolyl isomerase A (cyclophilin A)	40	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				blood coagulation (GO:0007596)|entry into host cell (GO:0030260)|establishment of integrated proviral latency (GO:0075713)|leukocyte migration (GO:0050900)|lipid particle organization (GO:0034389)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of protein secretion (GO:0050714)|positive regulation of viral genome replication (GO:0045070)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)|regulation of viral genome replication (GO:0045069)|RNA-dependent DNA replication (GO:0006278)|uncoating of virus (GO:0019061)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral release from host cell (GO:0019076)|virion assembly (GO:0019068)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	peptide binding (GO:0042277)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)|virion binding (GO:0046790)			breast(1)|endometrium(1)|lung(1)|urinary_tract(1)	4					Cyclosporine(DB00091)|L-Proline(DB00172)	GTGCTCTGAGCACTGGAGAGA	0.303																																					Pancreas(95;605 727 734 1731 12572 23104 24406 38694 39103 44805)												0													85.0	104.0	98.0					7																	44839010		1407	2678	4085	SO:0001819	synonymous_variant	0			X52851	CCDS5494.1, CCDS75592.1	7p13	2010-03-23			ENSG00000196262	ENSG00000196262	5.2.1.8		9253	protein-coding gene	gene with protein product		123840				1989998, 2197089	Standard	XM_005249791		Approved	CYPA	uc003tlw.3	P62937	OTTHUMG00000023687	ENST00000468812.1:c.120C>T	7.37:g.44839010C>T			A8K220|P05092|Q3KQW3|Q567Q0|Q6IBU5|Q96IX3|Q9BRU4|Q9BTY9|Q9UC61	Silent	SNP	pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom	p.S40	ENST00000468812.1	37	c.120	CCDS5494.1	7																																																																																			PPIA	-	pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom	ENSG00000196262		0.303	PPIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPIA	HGNC	protein_coding	OTTHUMT00000251293.1		0.00	16	0	C	NM_021130		44839010	+1			no_errors	ENST00000468812	ensembl	human	known	74_37	silent	7.27	51	4	SNP	1.000	T
PPP1R14C	81706	genome.wustl.edu	37	6	150569882	150569882	+	Splice_Site	SNP	G	G	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr6:150569882G>T	ENST00000361131.4	+	4	541	c.424G>T	c.(424-426)Gaa>Taa	p.E142*		NM_030949.2	NP_112211.1	Q8TAE6	PP14C_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 14C	142					regulation of phosphorylation (GO:0042325)	cytoplasm (GO:0005737)|membrane (GO:0016020)	protein serine/threonine phosphatase inhibitor activity (GO:0004865)			endometrium(1)|large_intestine(1)|prostate(1)	3		Ovarian(120;0.0284)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;9.14e-12)		TCTCTTTTAGGAATTTATCAA	0.383																																					Melanoma(165;1879 1941 2052 16588 48349)												0													59.0	61.0	60.0					6																	150569882		2203	4300	6503	SO:0001630	splice_region_variant	0			AF308297	CCDS5226.1	6q24.3-q25.3	2012-04-17			ENSG00000198729	ENSG00000198729		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14952	protein-coding gene	gene with protein product	"""kinase C-enhanced PP1 inhibitor"""	613242				11948623	Standard	NM_030949		Approved	CPI17-like, NY-BR-81, KEPI	uc003qnt.3	Q8TAE6	OTTHUMG00000015818	ENST00000361131.4:c.424-1G>T	6.37:g.150569882G>T			Q5VY83|Q96BB1|Q9H277	Nonsense_Mutation	SNP	pfam_PP1_inhibitor,superfamily_PP1_inhibitor	p.E142*	ENST00000361131.4	37	c.424	CCDS5226.1	6	.	.	.	.	.	.	.	.	.	.	G	32	5.188542	0.94923	.	.	ENSG00000198729	ENST00000361131	.	.	.	5.62	5.62	0.85841	.	0.205916	0.49916	D	0.000122	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-3.8452	19.6613	0.95875	0.0:0.0:1.0:0.0	.	.	.	.	X	142	.	.	E	+	1	0	PPP1R14C	150611575	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.986000	0.76200	2.639000	0.89480	0.650000	0.86243	GAA	PPP1R14C	-	pfam_PP1_inhibitor,superfamily_PP1_inhibitor	ENSG00000198729		0.383	PPP1R14C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R14C	HGNC	protein_coding	OTTHUMT00000042685.1		0.00	23	0	G	NM_030949	Nonsense_Mutation	150569882	+1			no_errors	ENST00000361131	ensembl	human	known	74_37	nonsense	5.41	70	4	SNP	1.000	T
PRKD1	5587	genome.wustl.edu	37	14	30066913	30066913	+	Silent	SNP	G	G	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr14:30066913G>T	ENST00000331968.5	-	16	2447	c.2218C>A	c.(2218-2220)Cgg>Agg	p.R740R	PRKD1_ENST00000415220.2_Silent_p.R748R	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	740	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		ACTGACCTCCGGAAAGACTTC	0.483																																																	0													69.0	71.0	70.0					14																	30066913		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	9407	protein-coding gene	gene with protein product		605435	"""protein kinase C, mu"""	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.2218C>A	14.37:g.30066913G>T			A6NL64|B2RAF6	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd	p.R740	ENST00000331968.5	37	c.2218	CCDS9637.1	14																																																																																			PRKD1	-	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	ENSG00000184304		0.483	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PRKD1	HGNC	protein_coding	OTTHUMT00000276611.2		0.00	12	0	G	NM_002742		30066913	-1			no_errors	ENST00000331968	ensembl	human	known	74_37	silent	5.13	37	2	SNP	1.000	T
PRPF8	10594	genome.wustl.edu	37	17	1563149	1563149	+	Missense_Mutation	SNP	C	C	A			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr17:1563149C>A	ENST00000572621.1	-	30	5197	c.4932G>T	c.(4930-4932)ttG>ttT	p.L1644F	PRPF8_ENST00000304992.6_Missense_Mutation_p.L1644F			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1644	Restriction endonuclease homology domain.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		AGTCAGCCAGCAATGAGGGCC	0.502																																																	0													92.0	81.0	85.0					17																	1563149		2203	4300	6503	SO:0001583	missense	0			AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"""PRP8 pre-mRNA processing factor 8 homolog (yeast)"", ""PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"""	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.4932G>T	17.37:g.1563149C>A	ENSP00000460348:p.Leu1644Phe		O14547|O75965	Missense_Mutation	SNP	pfam_PROCN,pfam_PRP8_domainIV,pfam_Prp8_U6-snRNA-bd,pfam_PRO8NT,pfam_Prp8_U5-snRNA-bd,pfam_PROCT,pfam_RRM_spliceosomal_PrP8,pfam_JAB_MPN_dom,superfamily_Cupredoxin,superfamily_Histone-fold,smart_JAB_MPN_dom	p.L1644F	ENST00000572621.1	37	c.4932	CCDS11010.1	17	.	.	.	.	.	.	.	.	.	.	c	17.21	3.331720	0.60853	.	.	ENSG00000174231	ENST00000304992;ENST00000540177	D	0.82433	-1.61	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	D	0.88808	0.6537	H	0.95151	3.63	0.80722	D	1	B	0.15473	0.013	B	0.21151	0.033	D	0.86285	0.1670	10	0.56958	D	0.05	-17.5305	16.1444	0.81555	0.134:0.866:0.0:0.0	.	1644	Q6P2Q9	PRP8_HUMAN	F	1644;171	ENSP00000304350:L1644F	ENSP00000304350:L1644F	L	-	3	2	PRPF8	1509899	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	2.510000	0.45468	2.882000	0.98803	0.655000	0.94253	TTG	PRPF8	-	NULL	ENSG00000174231		0.502	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	PRPF8	HGNC	protein_coding	OTTHUMT00000438412.2	-	0.00	9	0	C			1563149	-1	tier1	-	no_errors	ENST00000304992	ensembl	human	known	74_37	missense	26.92	38	14	SNP	1.000	A
PRSS22	64063	genome.wustl.edu	37	16	2903947	2903947	+	Nonsense_Mutation	SNP	G	G	T	rs373102852		TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr16:2903947G>T	ENST00000161006.3	-	5	701	c.636C>A	c.(634-636)taC>taA	p.Y212*	PRSS22_ENST00000574768.1_5'Flank|PRSS22_ENST00000571228.1_Nonsense_Mutation_p.Y102*	NM_022119.3	NP_071402.1	Q9GZN4	BSSP4_HUMAN	protease, serine, 22	212	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|skin(2)	10						CTCCCCGCCAGTACAGATGGC	0.602																																																	0								G	stop/TYR	0,4396		0,0,2198	84.0	80.0	82.0		636	4.2	1.0	16		82	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	PRSS22	NM_022119.3		0,1,6497	TT,TG,GG		0.0116,0.0,0.0077		212/318	2903947	1,12995	2198	4300	6498	SO:0001587	stop_gained	0			AF321182	CCDS10481.1	16p13.3	2010-05-07			ENSG00000005001	ENSG00000005001		"""Serine peptidases / Serine peptidases"""	14368	protein-coding gene	gene with protein product	"""brain-specific serine protease 4"""	609343				11602603, 15701722	Standard	XM_005255473		Approved	hBSSP-4, BSSP-4, SP001LA	uc002cry.1	Q9GZN4	OTTHUMG00000128961	ENST00000161006.3:c.636C>A	16.37:g.2903947G>T	ENSP00000161006:p.Tyr212*		O43342|Q6UXE0	Nonsense_Mutation	SNP	pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Peptidase_S1	p.Y212*	ENST00000161006.3	37	c.636	CCDS10481.1	16	.	.	.	.	.	.	.	.	.	.	g	12.00	1.806345	0.31961	0.0	1.16E-4	ENSG00000005001	ENST00000161006	.	.	.	4.24	4.24	0.50183	.	0.000000	0.48286	D	0.000188	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.5622	0.68148	0.0:0.0:1.0:0.0	.	.	.	.	X	212	.	ENSP00000161006:Y212X	Y	-	3	2	PRSS22	2843948	1.000000	0.71417	1.000000	0.80357	0.325000	0.28411	3.610000	0.54125	2.099000	0.63709	0.306000	0.20318	TAC	PRSS22	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000005001		0.602	PRSS22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRSS22	HGNC	protein_coding	OTTHUMT00000250943.1		0.00	39	0	G	NM_022119		2903947	-1			no_errors	ENST00000161006	ensembl	human	known	74_37	nonsense	5.13	74	4	SNP	1.000	T
PSMB6	5694	genome.wustl.edu	37	17	4701691	4701691	+	Missense_Mutation	SNP	G	G	T	rs143389701		TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr17:4701691G>T	ENST00000270586.3	+	6	745	c.694G>T	c.(694-696)Gcc>Tcc	p.A232S	RP11-81A22.5_ENST00000571067.1_lincRNA	NM_001270481.1|NM_002798.2	NP_001257410.1|NP_002789.1	P28072	PSB6_HUMAN	proteasome (prosome, macropain) subunit, beta type, 6	232					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)	endopeptidase activity (GO:0004175)|threonine-type endopeptidase activity (GO:0004298)			endometrium(3)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11						ACCCAAATTCGCCGTTGCCAC	0.502																																																	0													117.0	108.0	111.0					17																	4701691		2203	4300	6503	SO:0001583	missense	0			BC000835	CCDS11056.1, CCDS73944.1	17p13	2004-02-18			ENSG00000142507	ENSG00000142507		"""Proteasome (prosome, macropain) subunits"""	9543	protein-coding gene	gene with protein product		600307				8066462, 1888762	Standard	NM_002798		Approved	Y, DELTA	uc002fzb.4	P28072	OTTHUMG00000090777	ENST00000270586.3:c.694G>T	17.37:g.4701691G>T	ENSP00000270586:p.Ala232Ser		Q96J55	Missense_Mutation	SNP	pfam_Proteasome_sua/b,prints_Pept_T1A_subB	p.A232S	ENST00000270586.3	37	c.694	CCDS11056.1	17	.	.	.	.	.	.	.	.	.	.	G	3.994	-0.003984	0.07773	.	.	ENSG00000142507	ENST00000270586	T	0.29655	1.56	5.68	-4.5	0.03493	.	0.416650	0.26623	N	0.023344	T	0.06005	0.0156	N	0.01874	-0.695	0.29436	N	0.859533	B	0.02656	0.0	B	0.04013	0.001	T	0.27938	-1.0059	10	0.07482	T	0.82	-17.4018	0.9809	0.01436	0.2551:0.2003:0.3267:0.2179	.	232	P28072	PSB6_HUMAN	S	232	ENSP00000270586:A232S	ENSP00000270586:A232S	A	+	1	0	PSMB6	4648649	1.000000	0.71417	0.966000	0.40874	0.846000	0.48090	0.684000	0.25364	-0.431000	0.07307	-0.290000	0.09829	GCC	PSMB6	-	NULL	ENSG00000142507		0.502	PSMB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMB6	HGNC	protein_coding	OTTHUMT00000207559.2		0.00	8	0	G	NM_002798		4701691	+1			no_errors	ENST00000270586	ensembl	human	known	74_37	missense	16.00	21	4	SNP	0.984	T
PTCH1	5727	genome.wustl.edu	37	9	98220417	98220417	+	Missense_Mutation	SNP	G	G	T	rs374575067		TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr9:98220417G>T	ENST00000331920.6	-	18	3345	c.3046C>A	c.(3046-3048)Ctc>Atc	p.L1016I	PTCH1_ENST00000421141.1_Missense_Mutation_p.L865I|PTCH1_ENST00000429896.2_Missense_Mutation_p.L865I|PTCH1_ENST00000437951.1_Missense_Mutation_p.L950I|PTCH1_ENST00000375274.2_Missense_Mutation_p.L1015I|PTCH1_ENST00000430669.2_Missense_Mutation_p.L950I|PTCH1_ENST00000418258.1_Missense_Mutation_p.L865I	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	1016					brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)	p.I963fs*2(1)|p.L1016F(1)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				TCCCAGAAGAGGAAGGGGTAG	0.557																																																	2	Substitution - Missense(1)|Deletion - Frameshift(1)	central_nervous_system(1)|skin(1)											79.0	71.0	74.0					9																	98220417		2203	4300	6503	SO:0001583	missense	0			AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"""patched (Drosophila) homolog"", ""patched homolog (Drosophila)"", ""patched homolog 1 (Drosophila)"""	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.3046C>A	9.37:g.98220417G>T	ENSP00000332353:p.Leu1016Ile		A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Missense_Mutation	SNP	pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched	p.L1016I	ENST00000331920.6	37	c.3046	CCDS6714.1	9	.	.	.	.	.	.	.	.	.	.	G	20.9	4.067116	0.76301	.	.	ENSG00000185920	ENST00000331920;ENST00000437951;ENST00000421141;ENST00000418258;ENST00000375275;ENST00000430669;ENST00000429896;ENST00000375274	D;D;D;D;D;D;D	0.85861	-2.04;-2.04;-2.04;-2.04;-2.04;-2.04;-2.04	5.87	4.98	0.66077	.	0.000000	0.85682	D	0.000000	D	0.85885	0.5801	L	0.31804	0.96	0.80722	D	1	P;D;P	0.67145	0.754;0.996;0.771	P;D;P	0.68192	0.525;0.956;0.579	T	0.81938	-0.0704	10	0.10377	T	0.69	-32.7351	15.4071	0.74887	0.0666:0.0:0.9334:0.0	.	950;1015;1016	Q13635-3;Q13635-2;Q13635	.;.;PTC1_HUMAN	I	1016;950;865;865;452;950;865;1015	ENSP00000332353:L1016I;ENSP00000389744:L950I;ENSP00000399981:L865I;ENSP00000396135:L865I;ENSP00000410287:L950I;ENSP00000414823:L865I;ENSP00000364423:L1015I	ENSP00000332353:L1016I	L	-	1	0	PTCH1	97260238	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.420000	0.97426	1.636000	0.50526	0.655000	0.94253	CTC	PTCH1	-	pfam_Patched,tigrfam_TM_rcpt_patched	ENSG00000185920		0.557	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTCH1	HGNC	protein_coding	OTTHUMT00000053229.2		0.00	9	0	G	NM_000264		98220417	-1			no_errors	ENST00000331920	ensembl	human	known	74_37	missense	10.53	17	2	SNP	1.000	T
PTPRG	5793	genome.wustl.edu	37	3	62189529	62189529	+	Missense_Mutation	SNP	G	G	A			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr3:62189529G>A	ENST00000474889.1	+	12	2437	c.2060G>A	c.(2059-2061)gGg>gAg	p.G687E	PTPRG_ENST00000295874.10_Missense_Mutation_p.G687E	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	687					brain development (GO:0007420)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of neuron projection development (GO:0010977)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		CAGTATGCAGGGAGTGATCCC	0.587																																																	0													39.0	49.0	46.0					3																	62189529		2203	4300	6503	SO:0001583	missense	0			L09247	CCDS2895.1	3p21-p14	2013-02-11			ENSG00000144724	ENSG00000144724		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9671	protein-coding gene	gene with protein product		176886		PTPG		1711217	Standard	NM_002841		Approved	RPTPG	uc003dlb.3	P23470	OTTHUMG00000158660	ENST00000474889.1:c.2060G>A	3.37:g.62189529G>A	ENSP00000418112:p.Gly687Glu		B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt	p.G687E	ENST00000474889.1	37	c.2060	CCDS2895.1	3	.	.	.	.	.	.	.	.	.	.	G	3.405	-0.121352	0.06838	.	.	ENSG00000144724	ENST00000474889;ENST00000295874	T;T	0.48201	0.82;0.82	5.03	1.1	0.20463	.	0.860866	0.10187	N	0.705167	T	0.25269	0.0614	N	0.22421	0.69	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.001	T	0.29212	-1.0019	10	0.02654	T	1	.	4.9439	0.13980	0.3406:0.1436:0.5158:0.0	.	687;687	P23470-2;P23470	.;PTPRG_HUMAN	E	687	ENSP00000418112:G687E;ENSP00000295874:G687E	ENSP00000295874:G687E	G	+	2	0	PTPRG	62164569	0.224000	0.23674	0.000000	0.03702	0.098000	0.18820	0.231000	0.17872	-0.089000	0.12484	-0.165000	0.13383	GGG	PTPRG	-	NULL	ENSG00000144724		0.587	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRG	HGNC	protein_coding	OTTHUMT00000351674.1		0.00	19	0	G	NM_002841		62189529	+1			no_errors	ENST00000474889	ensembl	human	known	74_37	missense	15.22	39	7	SNP	0.001	A
PTPRT	11122	genome.wustl.edu	37	20	41101125	41101125	+	Missense_Mutation	SNP	C	C	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr20:41101125C>T	ENST00000373187.1	-	8	1230	c.1231G>A	c.(1231-1233)Ggc>Agc	p.G411S	PTPRT_ENST00000373198.4_Missense_Mutation_p.G411S|PTPRT_ENST00000356100.2_Missense_Mutation_p.G411S|PTPRT_ENST00000373193.3_Missense_Mutation_p.G411S|PTPRT_ENST00000373184.1_Missense_Mutation_p.G411S|PTPRT_ENST00000373201.1_Missense_Mutation_p.G411S|PTPRT_ENST00000373190.1_Missense_Mutation_p.G411S			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	411	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)	p.G411S(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				ACCGCGTAGCCGAAGGGCTCC	0.577																																																	1	Substitution - Missense(1)	prostate(1)											52.0	61.0	58.0					20																	41101125		2086	4236	6322	SO:0001583	missense	0			AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.1231G>A	20.37:g.41101125C>T	ENSP00000362283:p.Gly411Ser		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.G411S	ENST00000373187.1	37	c.1231	CCDS42874.1	20	.	.	.	.	.	.	.	.	.	.	C	20.4	3.991796	0.74703	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.56941	0.43;0.43;0.43;0.43;0.43;0.43;0.43	5.46	4.5	0.54988	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.60196	0.2250	M	0.72353	2.195	0.80722	D	1	D;P	0.61697	0.99;0.953	P;B	0.47705	0.555;0.353	T	0.67229	-0.5723	10	0.62326	D	0.03	.	16.1321	0.81446	0.0:0.8659:0.1341:0.0	.	411;411	O14522-1;O14522	.;PTPRT_HUMAN	S	411	ENSP00000362286:G411S;ENSP00000362283:G411S;ENSP00000362289:G411S;ENSP00000348408:G411S;ENSP00000362294:G411S;ENSP00000362280:G411S;ENSP00000362297:G411S	ENSP00000348408:G411S	G	-	1	0	PTPRT	40534539	1.000000	0.71417	0.994000	0.49952	0.971000	0.66376	4.740000	0.62087	1.282000	0.44496	0.462000	0.41574	GGC	PTPRT	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000196090		0.577	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRT	HGNC	protein_coding	OTTHUMT00000080315.1	-	0.00	18	0	C			41101125	-1	tier1	-	no_errors	ENST00000373198	ensembl	human	known	74_37	missense	31.48	37	17	SNP	1.000	T
PUS7L	83448	genome.wustl.edu	37	12	44124365	44124365	+	Nonsense_Mutation	SNP	G	G	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr12:44124365G>T	ENST00000416848.2	-	9	2408	c.1920C>A	c.(1918-1920)tgC>tgA	p.C640*	PUS7L_ENST00000551923.1_Nonsense_Mutation_p.C640*|PUS7L_ENST00000431332.3_Nonsense_Mutation_p.C327*|PUS7L_ENST00000344862.5_Nonsense_Mutation_p.C640*	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)-like	640	TRUD. {ECO:0000255|PROSITE- ProRule:PRU00342}.				pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		TCTGTCTATAGCAACCTGGTA	0.388																																																	0													178.0	167.0	171.0					12																	44124365		2203	4300	6503	SO:0001587	stop_gained	0			BX647494	CCDS8743.1, CCDS61104.1	12q12	2006-02-07				ENSG00000129317			25276	protein-coding gene	gene with protein product						11230166	Standard	NM_001098615		Approved	DKFZP434G1415	uc001rnr.5	Q9H0K6	OTTHUMG00000169423	ENST00000416848.2:c.1920C>A	12.37:g.44124365G>T	ENSP00000415899:p.Cys640*		B3KUJ1|Q05CU0|Q6AHZ3|Q6NUP2	Nonsense_Mutation	SNP	pfam_PsdUridine_synth_TruD,superfamily_PsdUridine_synth_cat_dom,pirsf_PsdUridine_synth_TruD_euk,pfscan_PsdUridine_synth_TruD_insert,tigrfam_PsdUridine_synth_TruD	p.C640*	ENST00000416848.2	37	c.1920	CCDS8743.1	12	.	.	.	.	.	.	.	.	.	.	G	37	6.575427	0.97676	.	.	ENSG00000129317	ENST00000416848;ENST00000344862;ENST00000551923;ENST00000431332	.	.	.	5.13	4.24	0.50183	.	0.045183	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-10.409	14.442	0.67323	0.0722:0.0:0.9278:0.0	.	.	.	.	X	640;640;640;327	.	ENSP00000343081:C640X	C	-	3	2	PUS7L	42410632	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	2.123000	0.41996	1.490000	0.48466	0.650000	0.86243	TGC	PUS7L	-	pfam_PsdUridine_synth_TruD,superfamily_PsdUridine_synth_cat_dom,pirsf_PsdUridine_synth_TruD_euk,pfscan_PsdUridine_synth_TruD_insert,tigrfam_PsdUridine_synth_TruD	ENSG00000129317		0.388	PUS7L-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PUS7L	HGNC	protein_coding	OTTHUMT00000403931.1		0.00	23	0	G	NM_031292		44124365	-1			no_errors	ENST00000344862	ensembl	human	known	74_37	nonsense	5.71	66	4	SNP	1.000	T
RABL2A	11159	genome.wustl.edu	37	2	114400757	114400757	+	3'UTR	SNP	T	T	C			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr2:114400757T>C	ENST00000393167.3	+	0	1963				RABL2A_ENST00000393166.3_Intron|RABL2A_ENST00000393165.3_Intron|RABL2A_ENST00000376439.3_Intron|RABL2A_ENST00000409842.1_3'UTR|RABL2A_ENST00000409875.1_3'UTR|RABL2A_ENST00000478880.1_3'UTR	NM_013412.2	NP_038198.1	Q9UBK7	RBL2A_HUMAN	RAB, member of RAS oncogene family-like 2A						GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)		GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|stomach(3)	9						AGGCTGTCCTTTTTTTTTAGG	0.458																																																	0																																										SO:0001624	3_prime_UTR_variant	0				CCDS2118.1	2q13	2014-05-09			ENSG00000144134	ENSG00000144134		"""RAB, member RAS oncogene"""	9799	protein-coding gene	gene with protein product		605412				10444334	Standard	NM_007082		Approved		uc010flb.3	Q9UBK7	OTTHUMG00000047828	ENST00000393167.3:c.*1051T>C	2.37:g.114400757T>C			B7ZBD6|Q9NU37	RNA	SNP	-	NULL	ENST00000393167.3	37	NULL	CCDS2118.1	2																																																																																			RABL2A	-	-	ENSG00000144134		0.458	RABL2A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	RABL2A	HGNC	protein_coding	OTTHUMT00000109047.2	-	0.00	27	0	T			114400757	+1	tier1	-	no_errors	ENST00000478880	ensembl	human	known	74_37	rna	27.59	63	24	SNP	0.000	C
RAD51	5888	genome.wustl.edu	37	15	40993374	40993374	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr15:40993374G>T	ENST00000267868.3	+	3	468	c.200G>T	c.(199-201)aGt>aTt	p.S67I	RAD51_ENST00000423169.2_Missense_Mutation_p.S67I|RAD51_ENST00000532743.1_Missense_Mutation_p.S67I|RAD51_ENST00000557850.1_Missense_Mutation_p.S67I|RAD51_ENST00000382643.3_Missense_Mutation_p.S67I	NM_002875.4	NP_002866.2	Q06609	RAD51_HUMAN	RAD51 recombinase	67	HhH.				ATP catabolic process (GO:0006200)|cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to ionizing radiation (GO:0071479)|DNA recombinase assembly (GO:0000730)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA unwinding involved in DNA replication (GO:0006268)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|meiotic nuclear division (GO:0007126)|mitotic recombination (GO:0006312)|positive regulation of DNA ligation (GO:0051106)|protein homooligomerization (GO:0051260)|reciprocal meiotic recombination (GO:0007131)|regulation of double-strand break repair via homologous recombination (GO:0010569)	condensed chromosome (GO:0000793)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|lateral element (GO:0000800)|mitochondrion (GO:0005739)|nuclear chromosome (GO:0000228)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|PML body (GO:0016605)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA polymerase binding (GO:0070182)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|single-stranded DNA binding (GO:0003697)|single-stranded DNA-dependent ATPase activity (GO:0043142)	p.S67I(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)	9		all_cancers(109;1.19e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.45e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000421)|COAD - Colon adenocarcinoma(120;0.163)		AAGGGAATTAGTGAAGCCAAA	0.403								Homologous recombination																																									1	Substitution - Missense(1)	lung(1)											123.0	127.0	126.0					15																	40993374		2203	4300	6503	SO:0001583	missense	0			D13804	CCDS10062.1, CCDS53931.1, CCDS53932.1	15q15.1	2014-06-12	2013-07-02		ENSG00000051180	ENSG00000051180			9817	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 5"""	179617	"""RAD51 (S. cerevisiae) homolog (E coli RecA homolog)"", ""RAD51 homolog (RecA homolog, E. coli) (S. cerevisiae)"", ""RAD51 homolog (S. cerevisiae)"""	RAD51A, RECA		8358431, 8479919	Standard	NM_002875		Approved	HsRad51, HsT16930, BRCC5	uc010bbx.3	Q06609	OTTHUMG00000130067	ENST00000267868.3:c.200G>T	15.37:g.40993374G>T	ENSP00000267868:p.Ser67Ile		B0FXP0|B2R8T6|Q6FHX9|Q6ZNA8|Q9BV60	Missense_Mutation	SNP	pfam_DNA_recomb/repair_Rad51_C,pfam_DNA_recomb/repair_RecA,superfamily_P-loop_NTPase,superfamily_DNA_repair_Rad51/TF_NusA_a-hlx,smart_AAA+_ATPase,pirsf_DNA_recomb/repair_RecA-like,pfscan_DNA_recomb_RecA/RadB_ATP-bd,pfscan_RecA_monomer-monomer_interface,tigrfam_DNA_recomb/repair_Rad51	p.S67I	ENST00000267868.3	37	c.200	CCDS10062.1	15	.	.	.	.	.	.	.	.	.	.	G	34	5.382792	0.95967	.	.	ENSG00000051180	ENST00000527860;ENST00000423169;ENST00000382642;ENST00000267868;ENST00000532743;ENST00000382643;ENST00000526763	T;T;T;T;T;T	0.60040	0.64;0.22;0.62;0.67;0.67;0.64	6.04	6.04	0.98038	DNA repair Rad51/transcription factor NusA, alpha-helical (1);Helix-hairpin-helix DNA-binding motif, class 1 (1);	0.000000	0.85682	D	0.000000	D	0.86280	0.5895	H	0.98111	4.15	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.998	D;D;D	0.75484	0.986;0.963;0.916	D	0.90325	0.4347	10	0.87932	D	0	-18.1738	20.5948	0.99439	0.0:0.0:1.0:0.0	.	67;67;67	Q06609-3;Q6ZNA8;Q06609	.;.;RAD51_HUMAN	I	67	ENSP00000432759:S67I;ENSP00000406602:S67I;ENSP00000267868:S67I;ENSP00000433924:S67I;ENSP00000372088:S67I;ENSP00000431897:S67I	ENSP00000267868:S67I	S	+	2	0	RAD51	38780666	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.709000	0.98729	2.873000	0.98535	0.563000	0.77884	AGT	RAD51	-	superfamily_DNA_repair_Rad51/TF_NusA_a-hlx,pirsf_DNA_recomb/repair_RecA-like,tigrfam_DNA_recomb/repair_Rad51	ENSG00000051180		0.403	RAD51-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	RAD51	HGNC	protein_coding	OTTHUMT00000252358.1		0.00	8	0	G	NM_002875, NM_133487		40993374	+1			no_errors	ENST00000382643	ensembl	human	known	74_37	missense	5.41	35	2	SNP	1.000	T
RAD54L2	23132	genome.wustl.edu	37	3	51664825	51664825	+	Missense_Mutation	SNP	G	G	A			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr3:51664825G>A	ENST00000409535.2	+	6	828	c.703G>A	c.(703-705)Gtc>Atc	p.V235I	RAD54L2_ENST00000296477.3_5'UTR	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)	235						nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|transcription cofactor activity (GO:0003712)			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		TGGCACCCATGTCAATGATGT	0.522																																																	0													122.0	103.0	109.0					3																	51664825		2203	4300	6503	SO:0001583	missense	0			AB018352	CCDS33765.2	3p21.2	2006-01-17			ENSG00000164080	ENSG00000164080			29123	protein-coding gene	gene with protein product						9872452	Standard	NM_015106		Approved	KIAA0809, SRISNF2L	uc011bdt.2	Q9Y4B4	OTTHUMG00000152936	ENST00000409535.2:c.703G>A	3.37:g.51664825G>A	ENSP00000386520:p.Val235Ile		Q8TB57|Q9BV54	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.V235I	ENST00000409535.2	37	c.703	CCDS33765.2	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.86|12.86	2.065536|2.065536	0.36470|0.36470	.|.	.|.	ENSG00000164080|ENSG00000164080	ENST00000432863|ENST00000409535	.|T	.|0.44881	.|0.91	5.8|5.8	4.94|4.94	0.65067|0.65067	.|.	.|0.306355	.|0.35466	.|N	.|0.003197	T|T	0.31009|0.31009	0.0783|0.0783	L|L	0.33245|0.33245	0.995|0.995	0.80722|0.80722	D|D	1|1	.|B	.|0.23540	.|0.087	.|B	.|0.20955	.|0.032	T|T	0.07597|0.07597	-1.0764|-1.0764	5|10	.|0.13470	.|T	.|0.59	-12.8418|-12.8418	13.8276|13.8276	0.63359|0.63359	0.0728:0.0:0.9272:0.0|0.0728:0.0:0.9272:0.0	.|.	.|235	.|Q9Y4B4	.|ARIP4_HUMAN	Y|I	63|235	.|ENSP00000386520:V235I	.|ENSP00000386520:V235I	C|V	+|+	2|1	0|0	RAD54L2|RAD54L2	51639865|51639865	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.929000|0.929000	0.56500|0.56500	3.870000|3.870000	0.56070|0.56070	1.464000|1.464000	0.47987|0.47987	0.655000|0.655000	0.94253|0.94253	TGT|GTC	RAD54L2	-	superfamily_P-loop_NTPase	ENSG00000164080		0.522	RAD54L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD54L2	HGNC	protein_coding	OTTHUMT00000328700.2	-	0.00	12	0	G	NM_015106		51664825	+1	tier1	-	no_errors	ENST00000409535	ensembl	human	known	74_37	missense	21.28	37	10	SNP	1.000	A
RANBP2	5903	genome.wustl.edu	37	2	109382709	109382709	+	Missense_Mutation	SNP	C	C	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr2:109382709C>T	ENST00000283195.6	+	20	5840	c.5714C>T	c.(5713-5715)cCa>cTa	p.P1905L		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	1905					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						ATTTCGGAACCAGGAAATCAA	0.393																																																	0													99.0	116.0	110.0					2																	109382709		2194	4294	6488	SO:0001583	missense	0			D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.5714C>T	2.37:g.109382709C>T	ENSP00000283195:p.Pro1905Leu		Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	pfam_Ran_bind_dom,pfam_Znf_RanBP2,pfam_IR1-M,pfam_Cyclophilin-like_PPIase_dom,pfam_TPR_1,superfamily_Cyclophilin-like_PPIase_dom,smart_TPR_repeat,smart_Ran_bind_dom,smart_Znf_RanBP2,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RanBP2,pfscan_Cyclophilin-like_PPIase_dom,pfscan_Ran_bind_dom,prints_Cyclophilin-like_PPIase_dom	p.P1905L	ENST00000283195.6	37	c.5714	CCDS2079.1	2	.	.	.	.	.	.	.	.	.	.	C	2.795	-0.250352	0.05867	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	T	0.27104	1.69	5.45	0.633	0.17712	.	.	.	.	.	T	0.19525	0.0469	L	0.43152	1.355	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.26950	-1.0088	9	0.87932	D	0	1.9312	4.8875	0.13710	0.1809:0.5218:0.0:0.2973	.	1905	P49792	RBP2_HUMAN	L	929;1905	ENSP00000283195:P1905L	ENSP00000283195:P1905L	P	+	2	0	RANBP2	108749141	0.014000	0.17966	0.001000	0.08648	0.328000	0.28507	2.717000	0.47227	-0.121000	0.11787	0.557000	0.71058	CCA	RANBP2	-	NULL	ENSG00000153201		0.393	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RANBP2	HGNC	protein_coding	OTTHUMT00000253594.1	-	0.00	49	0	C	NM_006267		109382709	+1	tier1	-	no_errors	ENST00000283195	ensembl	human	known	74_37	missense	15.64	328	61	SNP	0.042	T
RBM14	10432	genome.wustl.edu	37	11	66384105	66384105	+	5'UTR	SNP	C	C	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr11:66384105C>T	ENST00000310137.4	+	0	53				RBM14_ENST00000443702.1_5'Flank|RBM14_ENST00000393979.3_5'UTR|RNU4-39P_ENST00000362455.1_RNA|RBM14_ENST00000409372.1_5'UTR|RBM14-RBM4_ENST00000500635.2_5'Flank|RBM4_ENST00000514361.3_5'UTR|RBM14-RBM4_ENST00000511114.1_3'UTR|RBM14_ENST00000409738.4_5'Flank|RBM14-RBM4_ENST00000412278.2_5'UTR|RBM4_ENST00000503028.2_5'UTR	NM_006328.3	NP_006319.1	Q96PK6	RBM14_HUMAN	RNA binding motif protein 14						DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|glucocorticoid receptor signaling pathway (GO:0042921)|histone deacetylation (GO:0016575)|intracellular estrogen receptor signaling pathway (GO:0030520)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to hormone (GO:0009725)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor complex (GO:0005667)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)		RBM14/PACS1(2)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						CCAGCCATTCCTGAGGAGGAC	0.647																																																	0																																										SO:0001623	5_prime_UTR_variant	0			AF080561	CCDS8147.1, CCDS55772.1, CCDS55773.1	11q13.2	2013-02-12			ENSG00000239306	ENSG00000239306		"""RNA binding motif (RRM) containing"""	14219	protein-coding gene	gene with protein product	"""coactivator activator"", ""SYT interacting protein"""	612409				9285794	Standard	NM_006328		Approved	SIP, SYTIP1, COAA, DKFZp779J0927	uc001oit.3	Q96PK6	OTTHUMG00000140380	ENST00000310137.4:c.-87C>T	11.37:g.66384105C>T			B0LM41|B3KMN4|D6RGD8|O75932|Q2PYN1|Q53GV1|Q68DQ9|Q96PK5	RNA	SNP	-	NULL	ENST00000310137.4	37	NULL	CCDS8147.1	11																																																																																			RBM14-RBM4	-	-	ENSG00000248643		0.647	RBM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM14-RBM4	HGNC	protein_coding	OTTHUMT00000277128.1		0.00	8	0	C	NM_006328		66384105	+1			no_errors	ENST00000511114	ensembl	human	known	74_37	rna	9.09	60	6	SNP	1.000	T
RBM27	54439	genome.wustl.edu	37	5	145609304	145609304	+	Silent	SNP	C	C	T	rs549958493	byFrequency	TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr5:145609304C>T	ENST00000265271.5	+	5	586	c.420C>T	c.(418-420)gaC>gaT	p.D140D	RBM27_ENST00000506502.1_Silent_p.D140D	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	140	Arg-rich.				mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAAGAGAAGACGGGAAATGGA	0.398													C|||	2	0.000399361	0.0	0.0	5008	,	,		15608	0.001		0.001	False		,,,				2504	0.0																0													163.0	159.0	160.0					5																	145609304		1568	3582	5150	SO:0001819	synonymous_variant	0			AL833706	CCDS43378.1	5q32	2013-01-09				ENSG00000091009		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	29243	protein-coding gene	gene with protein product	"""acidic rich RS domain containing 1"""					10718198, 15741184	Standard	NM_018989		Approved	KIAA1311, ARRS1, Psc1, ZC3H18	uc003lnz.4	Q9P2N5		ENST00000265271.5:c.420C>T	5.37:g.145609304C>T			Q8IYW9	Silent	SNP	pfam_PWI_dom,pfam_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom	p.D140	ENST00000265271.5	37	c.420	CCDS43378.1	5																																																																																			RBM27	-	NULL	ENSG00000091009		0.398	RBM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM27	HGNC	protein_coding	OTTHUMT00000373420.1	-	0.00	12	0	C	XM_291128		145609304	+1	tier1	-	no_errors	ENST00000265271	ensembl	human	known	74_37	silent	34.38	21	11	SNP	1.000	T
RCVRN	5957	genome.wustl.edu	37	17	9808122	9808122	+	Missense_Mutation	SNP	C	C	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr17:9808122C>T	ENST00000226193.5	-	1	816	c.376G>A	c.(376-378)Gtc>Atc	p.V126I		NM_002903.2	NP_002894.1	P35243	RECO_HUMAN	recoverin	126	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				phototransduction, visible light (GO:0007603)|positive regulation of guanylate cyclase activity (GO:0031284)|regulation of calcium ion transport (GO:0051924)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|visual perception (GO:0007601)	dendrite (GO:0030425)	calcium ion binding (GO:0005509)|calcium sensitive guanylate cyclase activator activity (GO:0008048)			endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	12						CTGACCATGACGATCTCCAGC	0.642																																																	0													124.0	102.0	109.0					17																	9808122		2203	4300	6503	SO:0001583	missense	0			BC001720	CCDS11151.1	17p13.1	2013-01-10		2006-09-26	ENSG00000109047	ENSG00000109047		"""EF-hand domain containing"""	9937	protein-coding gene	gene with protein product		179618		RCV1		1387789, 12507501, 1467959, 12789533	Standard	NM_002903		Approved		uc002gme.1	P35243	OTTHUMG00000130268	ENST00000226193.5:c.376G>A	17.37:g.9808122C>T	ENSP00000226193:p.Val126Ile		Q53XL0	Missense_Mutation	SNP	pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin	p.V126I	ENST00000226193.5	37	c.376	CCDS11151.1	17	.	.	.	.	.	.	.	.	.	.	C	8.226	0.803586	0.16467	.	.	ENSG00000109047	ENST00000226193	T	0.66280	-0.2	4.86	1.66	0.24008	EF-hand-like domain (1);	0.252761	0.39909	N	0.001225	T	0.41282	0.1152	N	0.21508	0.67	0.80722	D	1	B	0.11235	0.004	B	0.04013	0.001	T	0.11542	-1.0583	10	0.26408	T	0.33	.	7.0455	0.25042	0.0:0.6107:0.0:0.3893	.	126	P35243	RECO_HUMAN	I	126	ENSP00000226193:V126I	ENSP00000226193:V126I	V	-	1	0	RCVRN	9748847	0.052000	0.20516	0.997000	0.53966	0.306000	0.27790	0.015000	0.13355	0.554000	0.29061	0.655000	0.94253	GTC	RCVRN	-	pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin	ENSG00000109047		0.642	RCVRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RCVRN	HGNC	protein_coding	OTTHUMT00000252600.2	-	0.00	9	0	C	NM_002903		9808122	-1	tier1	-	no_errors	ENST00000226193	ensembl	human	known	74_37	missense	25.00	27	9	SNP	1.000	T
REXO1	57455	genome.wustl.edu	37	19	1816336	1816336	+	Silent	SNP	G	G	A			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr19:1816336G>A	ENST00000170168.4	-	15	3559	c.3465C>T	c.(3463-3465)caC>caT	p.H1155H	MIR1909_ENST00000411312.1_RNA|CTB-31O20.3_ENST00000586259.1_RNA	NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	1155	Exonuclease.					nucleus (GO:0005634)	exonuclease activity (GO:0004527)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCACGGTGCTGTGGATGACCT	0.682																																																	0													15.0	12.0	13.0					19																	1816336		2188	4289	6477	SO:0001819	synonymous_variant	0			AB032964	CCDS32866.1	19p13.3	2014-05-28	2005-08-22	2005-08-22	ENSG00000079313	ENSG00000079313			24616	protein-coding gene	gene with protein product	"""elongin A binding protein 1"""	609614	"""transcription elongation factor B polypeptide 3 binding protein 1"""	TCEB3BP1		10574461	Standard	NM_020695		Approved	EloA-BP1, KIAA1138	uc002lua.4	Q8N1G1	OTTHUMG00000179991	ENST00000170168.4:c.3465C>T	19.37:g.1816336G>A			Q9ULT2	Silent	SNP	pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease	p.H1155	ENST00000170168.4	37	c.3465	CCDS32866.1	19																																																																																			REXO1	-	pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease	ENSG00000079313		0.682	REXO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	REXO1	HGNC	protein_coding	OTTHUMT00000449200.1		0.00	9	0	G	NM_020695		1816336	-1			no_errors	ENST00000170168	ensembl	human	known	74_37	silent	7.14	26	2	SNP	0.998	A
RORA	6095	genome.wustl.edu	37	15	60803593	60803593	+	Missense_Mutation	SNP	C	C	T	rs140905032	byFrequency	TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr15:60803593C>T	ENST00000335670.6	-	5	752	c.652G>A	c.(652-654)Gtc>Atc	p.V218I	RORA_ENST00000560004.1_5'Flank|RP11-219B17.1_ENST00000559824.1_RNA|RORA_ENST00000261523.5_Missense_Mutation_p.V251I|RP11-219B17.1_ENST00000558140.1_RNA|RP11-219B17.1_ENST00000559902.1_RNA|RP11-219B17.1_ENST00000558235.1_RNA|RORA_ENST00000449337.2_Missense_Mutation_p.V163I|RORA_ENST00000309157.4_Missense_Mutation_p.V243I|RP11-219B17.1_ENST00000501579.2_RNA	NM_134261.2	NP_599023.1	P35398	RORA_HUMAN	RAR-related orphan receptor A	218	Hinge.				angiogenesis (GO:0001525)|cellular response to hypoxia (GO:0071456)|cellular response to sterol (GO:0036315)|cerebellar granule cell precursor proliferation (GO:0021930)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|circadian regulation of gene expression (GO:0032922)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|muscle cell differentiation (GO:0042692)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|nitric oxide biosynthetic process (GO:0006809)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of cholesterol homeostasis (GO:2000188)|regulation of glucose metabolic process (GO:0010906)|regulation of macrophage activation (GO:0043030)|regulation of smoothened signaling pathway (GO:0008589)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription involved in cell fate commitment (GO:0060850)|regulation of transcription, DNA-templated (GO:0006355)|T-helper 17 cell differentiation (GO:0072539)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)|xenobiotic metabolic process (GO:0006805)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	direct ligand regulated sequence-specific DNA binding transcription factor activity (GO:0098531)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|oxysterol binding (GO:0008142)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator binding (GO:0001223)|transcription corepressor binding (GO:0001222)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	21						AAGCTGCTGACGGCGGAGTCT	0.532																																																	0								C	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	2,4404	4.2+/-10.8	0,2,2201	193.0	147.0	162.0		727,751,652,487	5.9	1.0	15	dbSNP_134	162	0,8600		0,0,4300	yes	missense,missense,missense,missense	RORA	NM_002943.3,NM_134260.2,NM_134261.2,NM_134262.2	29,29,29,29	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign,benign,benign,benign	243/549,251/557,218/524,163/469	60803593	2,13004	2203	4300	6503	SO:0001583	missense	0			U04897	CCDS10177.1, CCDS10178.1, CCDS10179.1, CCDS45271.1	15q21-q22	2013-01-16			ENSG00000069667	ENSG00000069667		"""Nuclear hormone receptors"""	10258	protein-coding gene	gene with protein product		600825				7926749	Standard	NM_134261		Approved	RZRA, ROR1, ROR2, ROR3, NR1F1	uc002agv.3	P35398	OTTHUMG00000132769	ENST00000335670.6:c.652G>A	15.37:g.60803593C>T	ENSP00000335087:p.Val218Ile		P35397|P35399|P45445|Q495X4|Q96H83	Missense_Mutation	SNP	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_ROR_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_ThyrH_rcpt	p.V251I	ENST00000335670.6	37	c.751	CCDS10177.1	15	.	.	.	.	.	.	.	.	.	.	C	17.78	3.473842	0.63737	4.54E-4	0.0	ENSG00000069667	ENST00000335670;ENST00000449337;ENST00000309157;ENST00000261523	D;D;D;D	0.94330	-3.36;-3.36;-3.4;-3.32	5.9	5.9	0.94986	.	0.106918	0.64402	D	0.000005	D	0.85340	0.5674	N	0.08118	0	0.80722	D	1	B;P;B;B	0.34562	0.224;0.457;0.152;0.017	B;B;B;B	0.22753	0.023;0.041;0.006;0.005	D	0.83803	0.0237	10	0.34782	T	0.22	.	20.2789	0.98501	0.0:1.0:0.0:0.0	.	218;243;251;163	P35398-2;P35398-3;P35398;P35398-4	.;.;RORA_HUMAN;.	I	218;163;243;251	ENSP00000335087:V218I;ENSP00000402971:V163I;ENSP00000309753:V243I;ENSP00000261523:V251I	ENSP00000261523:V251I	V	-	1	0	RORA	58590885	1.000000	0.71417	0.967000	0.41034	0.994000	0.84299	7.476000	0.81055	2.788000	0.95919	0.650000	0.86243	GTC	RORA	-	NULL	ENSG00000069667		0.532	RORA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RORA	HGNC	protein_coding	OTTHUMT00000256142.2	-	0.00	10	0	C			60803593	-1	tier1	rs140905032	no_errors	ENST00000261523	ensembl	human	known	74_37	missense	21.57	40	11	SNP	1.000	T
RPS6KA4	8986	genome.wustl.edu	37	11	64128017	64128017	+	Missense_Mutation	SNP	C	C	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr11:64128017C>T	ENST00000334205.4	+	4	480	c.415C>T	c.(415-417)Cgc>Tgc	p.R139C	RPS6KA4_ENST00000528057.1_Missense_Mutation_p.R139C|RPS6KA4_ENST00000294261.4_Missense_Mutation_p.R139C	NM_003942.2	NP_003933.1	O75676	KS6A4_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 4	139	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|histone H3-S10 phosphorylation (GO:0043987)|histone H3-S28 phosphorylation (GO:0043988)|histone phosphorylation (GO:0016572)|inflammatory response (GO:0006954)|interleukin-1-mediated signaling pathway (GO:0070498)|intracellular signal transduction (GO:0035556)|negative regulation of cytokine production (GO:0001818)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|mitogen-activated protein kinase p38 binding (GO:0048273)|protein serine/threonine kinase activity (GO:0004674)|ribosomal protein S6 kinase activity (GO:0004711)			breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1)	13						GGCTGAGGTGCGCGTGTATGG	0.602																																																	0													74.0	54.0	61.0					11																	64128017		2201	4297	6498	SO:0001583	missense	0			AJ010119	CCDS8073.1, CCDS73313.1	11q11-q13	2011-04-05	2002-08-29		ENSG00000162302	ENSG00000162302			10433	protein-coding gene	gene with protein product		603606	"""ribosomal protein S6 kinase, 90kD, polypeptide 4"""			9792677, 9687510	Standard	XM_005274379		Approved	RSK-B, MSK2	uc001oae.3	O75676	OTTHUMG00000046094	ENST00000334205.4:c.415C>T	11.37:g.64128017C>T	ENSP00000333896:p.Arg139Cys		A8K7Z8|O75585|Q53ES8	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom	p.R139C	ENST00000334205.4	37	c.415	CCDS8073.1	11	.	.	.	.	.	.	.	.	.	.	c	10.61	1.397391	0.25205	.	.	ENSG00000162302	ENST00000528057;ENST00000334205;ENST00000294261;ENST00000530504	T;T;T;T	0.27256	1.68;1.68;1.68;1.68	3.32	3.32	0.38043	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.071673	0.53938	D	0.000052	T	0.43500	0.1250	M	0.67953	2.075	0.52099	D	0.999948	B;D;D;D	0.76494	0.208;0.998;0.999;0.999	B;P;D;P	0.66716	0.021;0.817;0.946;0.88	T	0.24012	-1.0172	10	0.25106	T	0.35	.	12.8929	0.58082	0.0:1.0:0.0:0.0	.	139;139;139;139	G3XAA9;E9PJN1;O75676;O75676-2	.;.;KS6A4_HUMAN;.	C	139;139;139;123	ENSP00000435580:R139C;ENSP00000333896:R139C;ENSP00000294261:R139C;ENSP00000432945:R123C	ENSP00000294261:R139C	R	+	1	0	RPS6KA4	63884593	0.562000	0.26586	1.000000	0.80357	0.981000	0.71138	1.054000	0.30455	2.165000	0.68154	0.313000	0.20887	CGC	RPS6KA4	-	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,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom	ENSG00000162302		0.602	RPS6KA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS6KA4	HGNC	protein_coding	OTTHUMT00000106246.2		0.00	10	0	C	NM_003942		64128017	+1			no_errors	ENST00000334205	ensembl	human	known	74_37	missense	11.43	31	4	SNP	1.000	T
RRBP1	6238	genome.wustl.edu	37	20	17608209	17608212	+	Frame_Shift_Del	DEL	TCTC	TCTC	-			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	TCTC	TCTC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr20:17608209_17608212delTCTC	ENST00000377813.1	-	10	3168_3171	c.2865_2868delGAGA	c.(2863-2868)gagagafs	p.ER955fs	RRBP1_ENST00000246043.4_Frame_Shift_Del_p.ER955fs|RRBP1_ENST00000377807.2_Frame_Shift_Del_p.ER522fs|RRBP1_ENST00000455029.2_Frame_Shift_Del_p.ER296fs|RRBP1_ENST00000360807.4_Frame_Shift_Del_p.ER522fs			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	955					osteoblast differentiation (GO:0001649)|protein transport (GO:0015031)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)	p.R523I(1)|p.R956I(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						TGGAACGGATTCTCTCTGTGAGCT	0.667																																																	2	Substitution - Missense(2)	large_intestine(2)																																								SO:0001589	frameshift_variant	0			AB037819	CCDS13128.1	20p12	2012-12-07	2012-12-07		ENSG00000125844	ENSG00000125844			10448	protein-coding gene	gene with protein product		601418	"""ribosome binding protein 1 (dog 180kD homolog)"", ""ribosome binding protein 1 homolog 180kDa (dog)"""			8812507	Standard	NM_001042576		Approved	ES/130, hES	uc002wpw.1	Q9P2E9	OTTHUMG00000031945	ENST00000377813.1:c.2865_2868delGAGA	20.37:g.17608209_17608212delTCTC	ENSP00000367044:p.Glu955fs		A2A2S6|A6NCN6|O75300|O75301|Q5W165|Q96SB2|Q9BWP1|Q9H476	Frame_Shift_Del	DEL	pfam_Rib_rcpt_KP,superfamily_Ribosome_recyc_fac_dom	p.R956fs	ENST00000377813.1	37	c.2868_2865		20																																																																																			RRBP1	-	NULL	ENSG00000125844		0.667	RRBP1-002	NOVEL	basic	protein_coding	RRBP1	HGNC	protein_coding	OTTHUMT00000078125.1		0.00	10	0	TCTC	NM_001042576		17608212	-1	tier1		no_errors	ENST00000246043	ensembl	human	known	74_37	frame_shift_del	21.95	32	9	DEL	0.963:0.997:1.000:1.000	-
RYR2	6262	genome.wustl.edu	37	1	237666695	237666695	+	Missense_Mutation	SNP	G	G	A			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr1:237666695G>A	ENST00000366574.2	+	22	2820	c.2503G>A	c.(2503-2505)Gaa>Aaa	p.E835K	RYR2_ENST00000542537.1_Missense_Mutation_p.E819K|RYR2_ENST00000360064.6_Missense_Mutation_p.E833K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	835					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GTTGAAAGTGGAACACAGCCG	0.502																																																	0													112.0	114.0	113.0					1																	237666695		1987	4149	6136	SO:0001583	missense	0			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.2503G>A	1.37:g.237666695G>A	ENSP00000355533:p.Glu835Lys		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.E833K	ENST00000366574.2	37	c.2497	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	G	32	5.172527	0.94807	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.97041	-4.22;-4.2;-4.21	5.72	5.72	0.89469	.	0.000000	0.64402	D	0.000007	D	0.98485	0.9495	M	0.80847	2.515	0.80722	D	1	D	0.69078	0.997	D	0.75020	0.985	D	0.98855	1.0760	10	0.66056	D	0.02	.	20.2406	0.98372	0.0:0.0:1.0:0.0	.	835	Q92736	RYR2_HUMAN	K	835;833;819	ENSP00000355533:E835K;ENSP00000353174:E833K;ENSP00000443798:E819K	ENSP00000353174:E833K	E	+	1	0	RYR2	235733318	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.805000	0.99149	2.857000	0.98124	0.650000	0.86243	GAA	RYR2	-	NULL	ENSG00000198626		0.502	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2		0.00	10	0	G	NM_001035		237666695	+1			no_errors	ENST00000360064	ensembl	human	known	74_37	missense	14.29	36	6	SNP	1.000	A
SCGB1D2	10647	genome.wustl.edu	37	11	62010902	62010902	+	Missense_Mutation	SNP	C	C	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr11:62010902C>T	ENST00000244926.3	+	2	295	c.197C>T	c.(196-198)aCg>aTg	p.T66M	RP11-703H8.9_ENST00000529875.1_RNA	NM_006551.3	NP_006542.1	O95969	SG1D2_HUMAN	secretoglobin, family 1D, member 2	66						extracellular space (GO:0005615)				breast(1)|endometrium(1)|lung(1)	3						AAGAGATGCACGGATCAGATG	0.453																																																	0													157.0	142.0	147.0					11																	62010902		2202	4299	6501	SO:0001583	missense	0			AJ224172	CCDS8017.1	11q13	2011-12-14			ENSG00000124935	ENSG00000124935		"""Secretoglobins"""	18396	protein-coding gene	gene with protein product	"""prostatein-like lipophilin B"", ""lipophilin B (uteroglobin family member), prostatein-like"""	615061				10066439, 9720917, 22155607	Standard	XM_006718422		Approved	LPHB, LIPB	uc001ntb.3	O95969	OTTHUMG00000167508	ENST00000244926.3:c.197C>T	11.37:g.62010902C>T	ENSP00000244926:p.Thr66Met		Q2M3N9	Missense_Mutation	SNP	pfam_Secretoglobin,superfamily_Secretoglobin	p.T66M	ENST00000244926.3	37	c.197	CCDS8017.1	11	.	.	.	.	.	.	.	.	.	.	C	10.85	1.468217	0.26335	.	.	ENSG00000124935	ENST00000244926	T	0.15017	2.46	2.44	-4.74	0.03249	.	0.963863	0.08411	N	0.949879	T	0.29588	0.0738	.	.	.	0.09310	N	1	D	0.89917	1.0	D	0.79784	0.993	T	0.22208	-1.0223	9	0.66056	D	0.02	.	3.7549	0.08581	0.1806:0.2502:0.0:0.5692	.	66	O95969	SG1D2_HUMAN	M	66	ENSP00000244926:T66M	ENSP00000244926:T66M	T	+	2	0	SCGB1D2	61767478	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.708000	0.01891	-1.128000	0.02922	0.313000	0.20887	ACG	SCGB1D2	-	pfam_Secretoglobin,superfamily_Secretoglobin	ENSG00000124935		0.453	SCGB1D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCGB1D2	HGNC	protein_coding	OTTHUMT00000394859.1	-	0.00	9	0	C	NM_006551		62010902	+1	tier1	-	no_errors	ENST00000244926	ensembl	human	known	74_37	missense	39.34	37	24	SNP	0.000	T
SCN5A	6331	genome.wustl.edu	37	3	38603922	38603922	+	Missense_Mutation	SNP	C	C	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr3:38603922C>T	ENST00000333535.4	-	22	4096	c.3947G>A	c.(3946-3948)cGa>cAa	p.R1316Q	SCN5A_ENST00000443581.1_Missense_Mutation_p.R1315Q|SCN5A_ENST00000425664.1_Missense_Mutation_p.R1316Q|SCN5A_ENST00000450102.2_Missense_Mutation_p.R1262Q|SCN5A_ENST00000449557.2_Missense_Mutation_p.R1262Q|SCN5A_ENST00000451551.2_Missense_Mutation_p.R1262Q|SCN5A_ENST00000413689.1_Missense_Mutation_p.R1316Q|SCN5A_ENST00000423572.2_Missense_Mutation_p.R1315Q|SCN5A_ENST00000414099.2_Missense_Mutation_p.R1316Q|SCN5A_ENST00000455624.2_Missense_Mutation_p.R1315Q			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1316					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	GCCCTCAAATCGTGACAGAGC	0.652																																																	0													32.0	34.0	33.0					3																	38603922		2097	4235	6332	SO:0001583	missense	0			AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.3947G>A	3.37:g.38603922C>T	ENSP00000328968:p.Arg1316Gln		A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu	p.R1316Q	ENST00000333535.4	37	c.3947	CCDS46796.1	3	.	.	.	.	.	.	.	.	.	.	C	23.6	4.433137	0.83776	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.98747	-5.11;-5.11;-5.11;-5.11;-5.11;-5.11;-5.11;-5.11;-5.11;-5.11	4.04	4.04	0.47022	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98957	0.9645	M	0.74389	2.26	0.52099	D	0.999942	D;D;D;D;D;D;P	0.89917	0.989;1.0;1.0;1.0;0.999;1.0;0.942	P;D;D;D;D;D;B	0.83275	0.902;0.996;0.992;0.996;0.936;0.996;0.403	D	0.99737	1.1014	10	0.87932	D	0	.	16.4146	0.83729	0.0:1.0:0.0:0.0	.	1262;1315;1316;1316;1316;1315;1316	E9PEF3;E9PHB6;Q14524-6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;.;SCN5A_HUMAN;.;.	Q	1316;1315;1316;1262;1315;1316;1316;1315;1262;1262	ENSP00000398962:R1316Q;ENSP00000398266:R1315Q;ENSP00000410257:R1316Q;ENSP00000388797:R1262Q;ENSP00000397915:R1315Q;ENSP00000416634:R1316Q;ENSP00000328968:R1316Q;ENSP00000399524:R1315Q;ENSP00000403355:R1262Q;ENSP00000413996:R1262Q	ENSP00000328968:R1316Q	R	-	2	0	SCN5A	38578926	0.950000	0.32346	0.325000	0.25375	0.836000	0.47400	5.894000	0.69806	2.105000	0.64084	0.655000	0.94253	CGA	SCN5A	-	pfam_Ion_trans_dom	ENSG00000183873		0.652	SCN5A-014	KNOWN	basic|CCDS	protein_coding	SCN5A	HGNC	protein_coding	OTTHUMT00000377958.1		0.00	12	0	C	NM_198056		38603922	-1			no_errors	ENST00000333535	ensembl	human	known	74_37	missense	14.81	23	4	SNP	0.988	T
SDF4	51150	genome.wustl.edu	37	1	1164049	1164049	+	Missense_Mutation	SNP	G	G	A	rs572222634		TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr1:1164049G>A	ENST00000360001.6	-	2	387	c.125C>T	c.(124-126)tCg>tTg	p.S42L	SDF4_ENST00000263741.7_Missense_Mutation_p.S42L|SDF4_ENST00000545427.1_Missense_Mutation_p.S42L|SDF4_ENST00000459994.2_5'UTR			Q9BRK5	CAB45_HUMAN	stromal cell derived factor 4	42					calcium ion-dependent exocytosis (GO:0017156)|cerebellum development (GO:0021549)|fat cell differentiation (GO:0045444)|response to ethanol (GO:0045471)|UV protection (GO:0009650)|zymogen granule exocytosis (GO:0070625)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|late endosome (GO:0005770)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204)		TCGAGTGGACGAGTGGTTGGC	0.642																																																	0													114.0	89.0	98.0					1																	1164049		2202	4300	6502	SO:0001583	missense	0				CCDS12.1, CCDS30553.1	1p36.33	2013-01-10			ENSG00000078808	ENSG00000078808		"""EF-hand domain containing"""	24188	protein-coding gene	gene with protein product	"""calcium binding protein"""	614282				9254016, 8609160	Standard	NM_016176		Approved	Cab45	uc001adh.4	Q9BRK5	OTTHUMG00000001812	ENST00000360001.6:c.125C>T	1.37:g.1164049G>A	ENSP00000353094:p.Ser42Leu		B1AME5|B1AME6|B2RDF1|B4DSM1|Q53G52|Q53HQ9|Q8NBQ3|Q96AA1|Q9NZP7|Q9UN53	Missense_Mutation	SNP	smart_EF_hand_dom,pfscan_EF_hand_dom	p.S42L	ENST00000360001.6	37	c.125	CCDS30553.1	1	.	.	.	.	.	.	.	.	.	.	G	15.26	2.779505	0.49891	.	.	ENSG00000078808	ENST00000360001;ENST00000263741;ENST00000545427	T;T;T	0.08807	3.05;3.05;3.05	4.52	4.52	0.55395	.	0.000000	0.64402	D	0.000001	T	0.25158	0.0611	M	0.71581	2.175	0.80722	D	1	D;P	0.76494	0.999;0.921	P;B	0.60345	0.873;0.184	T	0.02263	-1.1186	10	0.72032	D	0.01	-8.9118	16.2023	0.82088	0.0:0.0:1.0:0.0	.	42;42	Q9BRK5-6;Q9BRK5	.;CAB45_HUMAN	L	42	ENSP00000353094:S42L;ENSP00000263741:S42L;ENSP00000444451:S42L	ENSP00000263741:S42L	S	-	2	0	SDF4	1153912	1.000000	0.71417	0.905000	0.35620	0.216000	0.24613	8.556000	0.90697	2.049000	0.60858	0.511000	0.50034	TCG	SDF4	-	NULL	ENSG00000078808		0.642	SDF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SDF4	HGNC	protein_coding	OTTHUMT00000005064.1	-	0.00	16	0	G	NM_016176		1164049	-1	tier1	-	no_errors	ENST00000360001	ensembl	human	known	74_37	missense	30.77	27	12	SNP	0.998	A
SEC22B	9554	genome.wustl.edu	37	1	145116048	145116048	+	RNA	SNP	C	C	T	rs12076894		TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr1:145116048C>T	ENST00000453618.1	+	0	1134							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)											AAAGGTTGCACCTCATTTAAT	0.413																																																	0																																												0			AF047442		1q21.1	2012-04-20	2010-03-12	2006-04-25	ENSG00000223380				10700	protein-coding gene	gene with protein product		604029	"""SEC22, vesicle trafficking protein (S. cerevisiae)-like 1"", ""SEC22 vesicle trafficking protein-like 1 (S. cerevisiae)"", ""SEC22 vesicle trafficking protein homolog B (S. cerevisiae)"""	SEC22L1		9094723, 16354670	Standard	NM_004892		Approved	sec22b, ERS-24	uc031poa.1	O75396	OTTHUMG00000013745		1.37:g.145116048C>T			A8K1G0	RNA	SNP	-	NULL	ENST00000453618.1	37	NULL		1																																																																																			SEC22B	-	-	ENSG00000223380		0.413	SEC22B-001	KNOWN	basic	processed_transcript	SEC22B	HGNC	processed_transcript	OTTHUMT00000038523.5	-	0.00	13	0	C	NM_004892		145116048	+1	tier1	rs12076894	no_errors	ENST00000453618	ensembl	human	known	74_37	rna	16.00	63	12	SNP	0.944	T
SELP	6403	genome.wustl.edu	37	1	169581488	169581488	+	Missense_Mutation	SNP	C	C	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr1:169581488C>T	ENST00000263686.6	-	6	965	c.928G>A	c.(928-930)Ggg>Agg	p.G310R	SELP_ENST00000367792.2_Missense_Mutation_p.G310R|SELP_ENST00000367788.2_Intron|SELP_ENST00000367791.2_Missense_Mutation_p.G310R|SELP_ENST00000367786.2_Missense_Mutation_p.G310R|SELP_ENST00000367794.2_Missense_Mutation_p.G310R|SELP_ENST00000367793.2_Intron|SELP_ENST00000458599.2_Missense_Mutation_p.G310R	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	310	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|defense response to Gram-negative bacterium (GO:0050829)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of platelet activation (GO:0010572)|regulation of integrin activation (GO:0033623)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|platelet dense granule membrane (GO:0031088)	fucose binding (GO:0042806)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|lipopolysaccharide binding (GO:0001530)|oligosaccharide binding (GO:0070492)|sialic acid binding (GO:0033691)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Dalteparin(DB06779)|Heparin(DB01109)|Nadroparin(DB08813)	GTCCATACCCCCGAGGCTGTG	0.488																																																	0													132.0	107.0	115.0					1																	169581488		2203	4300	6503	SO:0001583	missense	0			BC068533	CCDS1282.1	1q22-q25	2008-02-05	2002-08-29		ENSG00000174175	ENSG00000174175		"""CD molecules"""	10721	protein-coding gene	gene with protein product		173610	"""selectin P (granule membrane protein 140kD, antigen CD62)"""	GRMP		1375831	Standard	NM_003005		Approved	CD62, PSEL, PADGEM, GMP140, CD62P	uc001ggi.4	P16109	OTTHUMG00000034685	ENST00000263686.6:c.928G>A	1.37:g.169581488C>T	ENSP00000263686:p.Gly310Arg		Q5R344|Q8IVD1	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,pfam_C-type_lectin,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Sushi_SCR_CCP,prints_Selectin_superfamily	p.G310R	ENST00000263686.6	37	c.928	CCDS1282.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.6|21.6	4.175924|4.175924	0.78564|0.78564	.|.	.|.	ENSG00000174175|ENSG00000174175	ENST00000446728|ENST00000367795;ENST00000367790;ENST00000426706;ENST00000367789;ENST00000263686;ENST00000544572;ENST00000367794;ENST00000367792;ENST00000367791;ENST00000367786;ENST00000458599	.|T;T;T;T;T;T	.|0.76709	.|0.2;0.2;0.2;0.2;0.2;-1.04	5.39|5.39	4.46|4.46	0.54185|0.54185	.|Complement control module (2);Sushi/SCR/CCP (3);	0.000000|0.000000	0.41294|0.41294	D|D	0.000907|0.000907	D|D	0.86012|0.86012	0.5831|0.5831	M|M	0.87097|0.87097	2.86|2.86	0.53005|0.53005	D|D	0.999966|0.999966	.|D;D;D	.|0.89917	.|1.0;0.998;1.0	.|D;D;D	.|0.97110	.|1.0;0.991;1.0	D|D	0.87764|0.87764	0.2600|0.2600	6|10	.|0.52906	.|T	.|0.07	.|.	13.2938|13.2938	0.60286|0.60286	0.0:0.9216:0.0:0.0784|0.0:0.9216:0.0:0.0784	.|.	.|310;310;310	.|Q6NUL9;P16109;G3V1U2	.|.;LYAM3_HUMAN;.	E|R	309|310;310;309;310;310;310;310;310;310;310;295	.|ENSP00000263686:G310R;ENSP00000356768:G310R;ENSP00000356766:G310R;ENSP00000356765:G310R;ENSP00000356760:G310R;ENSP00000399368:G295R	.|ENSP00000263686:G310R	G|G	-|-	2|1	0|0	SELP|SELP	167848112|167848112	0.996000|0.996000	0.38824|0.38824	0.019000|0.019000	0.16419|0.16419	0.928000|0.928000	0.56348|0.56348	4.746000|4.746000	0.62133|0.62133	1.234000|1.234000	0.43709|0.43709	0.650000|0.650000	0.86243|0.86243	GGG|GGG	SELP	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000174175		0.488	SELP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SELP	HGNC	protein_coding	OTTHUMT00000083916.4	-	0.00	32	0	C	NM_003005		169581488	-1	tier1	-	no_errors	ENST00000263686	ensembl	human	known	74_37	missense	13.58	70	11	SNP	0.942	T
SERPINE3	647174	genome.wustl.edu	37	13	51922369	51922369	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr13:51922369G>T	ENST00000521255.1	+	4	781	c.721G>T	c.(721-723)Ggc>Tgc	p.G241C	SERPINE3_ENST00000400389.4_Missense_Mutation_p.G241C|SERPINE3_ENST00000524365.1_Missense_Mutation_p.G241C|MIR5693_ENST00000577722.1_RNA	NM_001101320.1	NP_001094790.1	A8MV23	SERP3_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 3	241					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			ovary(2)	2						GGACACTGCAGGCCATCAGGT	0.597																																																	0													35.0	47.0	43.0					13																	51922369		2039	4195	6234	SO:0001583	missense	0			AX772926	CCDS53870.1	13q14.3	2014-02-18			ENSG00000253309	ENSG00000253309		"""Serine (or cysteine) peptidase inhibitors"""	24774	protein-coding gene	gene with protein product						24172014	Standard	NM_001101320		Approved		uc001vfh.2	A8MV23	OTTHUMG00000016943	ENST00000521255.1:c.721G>T	13.37:g.51922369G>T	ENSP00000428316:p.Gly241Cys		B1V8P3	Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.G241C	ENST00000521255.1	37	c.721	CCDS53870.1	13	.	.	.	.	.	.	.	.	.	.	G	13.80	2.343750	0.41498	.	.	ENSG00000253309	ENST00000524365;ENST00000521255;ENST00000400389	T;T;T	0.23348	1.91;1.91;1.91	5.04	4.11	0.48088	Serpin domain (3);	0.443707	0.17607	U	0.168222	T	0.37919	0.1021	L	0.42245	1.32	0.09310	N	1	D;D	0.89917	1.0;0.999	D;D	0.70487	0.969;0.961	T	0.08146	-1.0736	10	0.87932	D	0	.	7.9374	0.29937	0.0965:0.1677:0.7358:0.0	.	241;241	A8MV23-2;A8MV23	.;SERP3_HUMAN	C	241	ENSP00000430755:G241C;ENSP00000428316:G241C;ENSP00000441468:G241C	ENSP00000441468:G241C	G	+	1	0	SERPINE3	50820370	0.998000	0.40836	0.066000	0.19879	0.531000	0.34715	4.330000	0.59266	2.640000	0.89533	0.655000	0.94253	GGC	SERPINE3	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	ENSG00000253309		0.597	SERPINE3-001	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	SERPINE3	HGNC	protein_coding	OTTHUMT00000045021.2		0.00	20	0	G	NM_001101320		51922369	+1			no_errors	ENST00000521255	ensembl	human	known	74_37	missense	6.67	56	4	SNP	0.008	T
SERPINF1	5176	genome.wustl.edu	37	17	1680027	1680027	+	Nonsense_Mutation	SNP	C	C	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr17:1680027C>T	ENST00000254722.4	+	7	1151	c.988C>T	c.(988-990)Cag>Tag	p.Q330*		NM_002615.5	NP_002606.3	P36955	PEDF_HUMAN	serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1	330					aging (GO:0007568)|cell proliferation (GO:0008283)|kidney development (GO:0001822)|multicellular organismal development (GO:0007275)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of inflammatory response (GO:0050728)|positive regulation of neurogenesis (GO:0050769)|regulation of proteolysis (GO:0030162)|response to glucocorticoid (GO:0051384)|response to retinoic acid (GO:0032526)|short-term memory (GO:0007614)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	16						CAAGTCCCTGCAGGAGATGAG	0.552																																																	0													95.0	85.0	88.0					17																	1680027		2203	4300	6503	SO:0001587	stop_gained	0			M76979	CCDS11012.1	17p13.3	2014-02-18	2005-08-18		ENSG00000132386	ENSG00000132386		"""Serine (or cysteine) peptidase inhibitors"""	8824	protein-coding gene	gene with protein product	"""pigment epithelium-derived factor"", ""proliferation-inducing protein 35"""	172860	"""serine (or cysteine) proteinase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1"""	PEDF		8434014, 24172014	Standard	NM_002615		Approved	EPC-1, PIG35	uc002ftl.3	P36955	OTTHUMG00000090571	ENST00000254722.4:c.988C>T	17.37:g.1680027C>T	ENSP00000254722:p.Gln330*		F1T092|Q13236|Q2TU83|Q96CT1|Q96R01|Q9BWA4	Nonsense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.Q330*	ENST00000254722.4	37	c.988	CCDS11012.1	17	.	.	.	.	.	.	.	.	.	.	C	21.2	4.113172	0.77210	.	.	ENSG00000132386	ENST00000254722	.	.	.	5.58	4.53	0.55603	.	0.361974	0.33572	N	0.004771	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.3273	0.87252	0.1612:0.8388:0.0:0.0	.	.	.	.	X	330	.	ENSP00000254722:Q330X	Q	+	1	0	SERPINF1	1626777	1.000000	0.71417	1.000000	0.80357	0.219000	0.24729	1.077000	0.30741	2.629000	0.89072	0.561000	0.74099	CAG	SERPINF1	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	ENSG00000132386		0.552	SERPINF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINF1	HGNC	protein_coding	OTTHUMT00000207109.4		0.00	11	0	C	NM_002615		1680027	+1			no_errors	ENST00000254722	ensembl	human	known	74_37	nonsense	12.90	27	4	SNP	0.969	T
SH3KBP1	30011	genome.wustl.edu	37	X	19713766	19713766	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chrX:19713766G>T	ENST00000397821.3	-	5	774	c.484C>A	c.(484-486)Ctt>Att	p.L162I	SH3KBP1_ENST00000379698.4_Missense_Mutation_p.L125I|SH3KBP1_ENST00000379697.3_Missense_Mutation_p.L162I	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	162					apoptotic process (GO:0006915)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|cytoskeleton organization (GO:0007010)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|regulation of cell shape (GO:0008360)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						GAAATGCCAAGCTCATCCGAC	0.557																																																	0													160.0	132.0	142.0					X																	19713766		2203	4300	6503	SO:0001583	missense	0			AF230904	CCDS14193.1, CCDS35213.1, CCDS55383.1	Xp22.1-p21.3	2008-02-05			ENSG00000147010	ENSG00000147010			13867	protein-coding gene	gene with protein product		300374				8889549, 7566098	Standard	NM_031892		Approved	CIN85	uc004czm.3	Q96B97	OTTHUMG00000021227	ENST00000397821.3:c.484C>A	X.37:g.19713766G>T	ENSP00000380921:p.Leu162Ile		B7Z1D5|Q5JPT4|Q5JPT5|Q8IWX6|Q8IX98|Q96RN4|Q9NYR0	Missense_Mutation	SNP	pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_p67phox,prints_SH3_domain,prints_Spectrin_alpha_SH3	p.L162I	ENST00000397821.3	37	c.484	CCDS14193.1	X	.	.	.	.	.	.	.	.	.	.	G	11.93	1.786693	0.31593	.	.	ENSG00000147010	ENST00000379702;ENST00000397821;ENST00000397804;ENST00000379698;ENST00000379726;ENST00000379697;ENST00000432234;ENST00000431164	T;T;T;T;T;T	0.52526	1.37;1.41;1.24;1.08;0.66;0.8	5.94	5.94	0.96194	.	1.689670	0.03158	N	0.168861	T	0.41511	0.1162	L	0.46157	1.445	0.35778	D	0.821435	P;B	0.36086	0.536;0.278	B;B	0.21360	0.033;0.034	T	0.43343	-0.9397	10	0.37606	T	0.19	-9.739	9.3599	0.38190	0.0:0.1616:0.6888:0.1497	.	162;125	Q96B97;Q5JPT5	SH3K1_HUMAN;.	I	103;162;70;125;98;162;109;70	ENSP00000380921:L162I;ENSP00000369020:L125I;ENSP00000369049:L98I;ENSP00000369019:L162I;ENSP00000388766:L109I;ENSP00000409292:L70I	ENSP00000369019:L162I	L	-	1	0	SH3KBP1	19623687	0.999000	0.42202	0.983000	0.44433	0.938000	0.57974	2.821000	0.48065	2.509000	0.84616	0.529000	0.55759	CTT	SH3KBP1	-	NULL	ENSG00000147010		0.557	SH3KBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3KBP1	HGNC	protein_coding	OTTHUMT00000055992.1		0.00	9	0	G	NM_031892		19713766	-1			no_errors	ENST00000397821	ensembl	human	known	74_37	missense	9.09	40	4	SNP	0.504	T
SHC4	399694	genome.wustl.edu	37	15	49127098	49127098	+	Silent	SNP	C	C	T	rs141070519	byFrequency	TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr15:49127098C>T	ENST00000332408.4	-	11	2033	c.1605G>A	c.(1603-1605)gcG>gcA	p.A535A	SHC4_ENST00000537958.1_Silent_p.A249A|SHC4_ENST00000396535.3_Silent_p.A292A	NM_203349.3	NP_976224.3	Q6S5L8	SHC4_HUMAN	SHC (Src homology 2 domain containing) family, member 4	535	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|positive regulation of cell proliferation (GO:0008284)|regulation of gene expression (GO:0010468)|stem cell differentiation (GO:0048863)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	29		all_lung(180;0.00466)		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)		GGCTCTCTGCCGCCTTCCTGC	0.552																																																	0								C		2,4392	4.2+/-10.8	0,2,2195	112.0	93.0	99.0		1605	-9.9	0.1	15	dbSNP_134	99	2,8588	2.2+/-6.3	0,2,4293	no	coding-synonymous	SHC4	NM_203349.3		0,4,6488	TT,TC,CC		0.0233,0.0455,0.0308		535/631	49127098	4,12980	2197	4295	6492	SO:0001819	synonymous_variant	0			AY358250	CCDS10130.1	15q21.1-q21.2	2013-02-14			ENSG00000185634	ENSG00000185634		"""SH2 domain containing"""	16743	protein-coding gene	gene with protein product	"""rai-like protein"""						Standard	NM_203349		Approved	RaLP	uc001zxb.1	Q6S5L8	OTTHUMG00000131513	ENST00000332408.4:c.1605G>A	15.37:g.49127098C>T			Q6UXQ3|Q8IYW3	Silent	SNP	pfam_PTB/PI_dom,pfam_SH2,smart_PTB/PI_dom,smart_SH2,pfscan_PTB/PI_dom,pfscan_SH2,prints_PID_Shc-like,prints_SH2	p.A535	ENST00000332408.4	37	c.1605	CCDS10130.1	15																																																																																			SHC4	-	pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2	ENSG00000185634		0.552	SHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHC4	HGNC	protein_coding	OTTHUMT00000254371.1	-	0.00	16	0	C	NM_203349		49127098	-1	tier1	rs141070519	no_errors	ENST00000332408	ensembl	human	known	74_37	silent	36.59	26	15	SNP	0.008	T
SIPA1L2	57568	genome.wustl.edu	37	1	232561444	232561444	+	Silent	SNP	G	G	A			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr1:232561444G>A	ENST00000366630.1	-	17	4879	c.4521C>T	c.(4519-4521)tcC>tcT	p.S1507S	SIPA1L2_ENST00000262861.4_Silent_p.S1507S|SIPA1L2_ENST00000308942.4_Silent_p.S581S			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1507					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				GGTCAAGCACGGAACTCCGGG	0.637																																																	0													60.0	76.0	70.0					1																	232561444		2195	4295	6490	SO:0001819	synonymous_variant	0			AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.4521C>T	1.37:g.232561444G>A			Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Silent	SNP	pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom	p.S1507	ENST00000366630.1	37	c.4521	CCDS41474.1	1																																																																																			SIPA1L2	-	pfam_DUF3401	ENSG00000116991		0.637	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIPA1L2	HGNC	protein_coding	OTTHUMT00000092318.1	-	0.00	26	0	G	XM_045839		232561444	-1	tier1	-	no_errors	ENST00000262861	ensembl	human	known	74_37	silent	12.31	57	8	SNP	0.895	A
SIRPB1	10326	genome.wustl.edu	37	20	1592048	1592048	+	Intron	DEL	G	G	-	rs372728073|rs45545343	byFrequency	TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr20:1592048delG	ENST00000381605.4	-	1	141				SIRPB1_ENST00000279477.7_Frame_Shift_Del_p.H130fs|RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000568365.1_Frame_Shift_Del_p.H130fs|SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000381596.1_5'UTR	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1						cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						AACTCCACGTGGTCGGGGCTC	0.517																																																	0									,,	293,1373		143,7,683	110.0	108.0	108.0		,,	1.4	0.0	20		91	398,4888		193,12,2438	no	intron,frameshift,intron	SIRPB1	NM_006065.3,NM_001135844.2,NM_001083910.2	,,	336,19,3121	A1A1,A1R,RR		7.5293,17.587,9.9396	,,	,,	1592048	691,6261	242	939	1181	SO:0001627	intron_variant	0			Y10376	CCDS13019.1, CCDS42850.1, CCDS46571.1	20p13	2013-01-11			ENSG00000101307	ENSG00000101307		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	15928	protein-coding gene	gene with protein product		603889				9062191, 16339511	Standard	NM_001083910		Approved	SIRP-BETA-1, CD172b	uc010gai.3	O00241	OTTHUMG00000031676	ENST00000381605.4:c.76+8466C>-	20.37:g.1592048delG			A6NLM2|B2R8V0|Q5TFQ9|Q5TFR0|Q8TB12|Q9H1U5|Q9Y4V0	Frame_Shift_Del	DEL	pfam_Ig_C1-set,pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_C1-set,pfscan_Ig-like_dom	p.H130fs	ENST00000381605.4	37	c.388	CCDS13019.1	20																																																																																			SIRPB1	-	pfam_Ig_V-set,smart_Ig_sub	ENSG00000101307		0.517	SIRPB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SIRPB1	HGNC	protein_coding	OTTHUMT00000077555.2		0.00	17	0	G	NM_006065		1592048	-1			no_errors	ENST00000279477	ensembl	human	known	74_37	frame_shift_del	8.75	73	7	DEL	0.000	0
SLC28A1	9154	genome.wustl.edu	37	15	85486698	85486698	+	Missense_Mutation	SNP	C	C	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr15:85486698C>T	ENST00000286749.3	+	15	1694	c.1604C>T	c.(1603-1605)aCg>aTg	p.T535M	SLC28A1_ENST00000537216.1_Intron|SLC28A1_ENST00000538177.1_Missense_Mutation_p.T369M|SLC28A1_ENST00000394573.1_Missense_Mutation_p.T535M|SLC28A1_ENST00000537624.1_Missense_Mutation_p.T535M			O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	535					nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|nucleoside transmembrane transporter activity (GO:0005337)|nucleoside:sodium symporter activity (GO:0005415)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)		Gemcitabine(DB00441)|Stavudine(DB00649)|Zidovudine(DB00495)	GTCCTCACGACGTTTGCCCTC	0.552																																																	0													122.0	97.0	105.0					15																	85486698		2203	4299	6502	SO:0001583	missense	0			U62967	CCDS10334.1, CCDS10335.1, CCDS73777.1	15q25.3	2013-07-17	2013-07-17		ENSG00000156222	ENSG00000156222		"""Solute carriers"""	11001	protein-coding gene	gene with protein product		606207	"""solute carrier family 28 (sodium-coupled nucleoside transporter), member 1"""			9124315	Standard	NM_004213		Approved	CNT1	uc002blg.3	O00337	OTTHUMG00000148668	ENST00000286749.3:c.1604C>T	15.37:g.85486698C>T	ENSP00000286749:p.Thr535Met		A0AV42|A8K7I2|O00335|O00336|Q5U5S6|Q5U648|Q9UEZ9	Missense_Mutation	SNP	pfam_Nucleos_tra2_C,pfam_Nuclsd_transpt2,pfam_Nucleoside_recog_Gate,tigrfam_C_nuclsd_transpt_met_bac	p.T535M	ENST00000286749.3	37	c.1604	CCDS10334.1	15	.	.	.	.	.	.	.	.	.	.	C	15.58	2.876629	0.51801	.	.	ENSG00000156222	ENST00000538177;ENST00000537624;ENST00000286749;ENST00000394573	T;T;T;T	0.10477	2.87;2.87;2.87;2.87	4.2	3.29	0.37713	Na dependent nucleoside transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.44932	0.1317	H	0.97732	4.065	0.80722	D	1	D;D;D	0.89917	1.0;0.99;1.0	D;P;D	0.91635	0.997;0.671;0.999	T	0.58567	-0.7614	10	0.87932	D	0	-12.4959	10.0909	0.42447	0.0:0.9006:0.0:0.0994	.	535;369;535	F5H560;B7Z3L6;O00337	.;.;S28A1_HUMAN	M	369;535;535;535	ENSP00000443752:T369M;ENSP00000444700:T535M;ENSP00000286749:T535M;ENSP00000378074:T535M	ENSP00000286749:T535M	T	+	2	0	SLC28A1	83287702	1.000000	0.71417	0.009000	0.14445	0.455000	0.32408	7.453000	0.80700	1.105000	0.41606	0.563000	0.77884	ACG	SLC28A1	-	pfam_Nucleos_tra2_C,tigrfam_C_nuclsd_transpt_met_bac	ENSG00000156222		0.552	SLC28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC28A1	HGNC	protein_coding	OTTHUMT00000308998.2	-	0.00	27	0	C			85486698	+1	tier1	-	no_errors	ENST00000286749	ensembl	human	known	74_37	missense	23.68	29	9	SNP	0.958	T
SLC2A7	155184	genome.wustl.edu	37	1	9070276	9070276	+	Missense_Mutation	SNP	G	G	A	rs370854911		TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr1:9070276G>A	ENST00000400906.1	-	9	1041	c.1042C>T	c.(1042-1044)Cgg>Tgg	p.R348W		NM_207420.2	NP_997303.2	Q6PXP3	GTR7_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 7	348					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|lung(4)|prostate(2)|skin(2)	24	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		AGGAGGTGCCGCCGTCCCAGC	0.677																																																	0								G	TRP/ARG	0,3886		0,0,1943	13.0	11.0	12.0		1042	1.1	0.0	1		12	1,7723		0,1,3861	no	missense	SLC2A7	NM_207420.2	101	0,1,5804	AA,AG,GG		0.0129,0.0,0.0086	probably-damaging	348/513	9070276	1,11609	1943	3862	5805	SO:0001583	missense	0			AL356306	CCDS98.2	1p36.2	2013-05-22			ENSG00000197241	ENSG00000197241		"""Solute carriers"""	13445	protein-coding gene	gene with protein product	"""intestinal facilitative glucose transporter 7"""	610371				11780753	Standard	NM_207420		Approved	GLUT7	uc009vmo.1	Q6PXP3	OTTHUMG00000057499	ENST00000400906.1:c.1042C>T	1.37:g.9070276G>A	ENSP00000383698:p.Arg348Trp		A2A333	Missense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,prints_Sugar/inositol_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt	p.R348W	ENST00000400906.1	37	c.1042	CCDS98.2	1	.	.	.	.	.	.	.	.	.	.	G	13.30	2.196418	0.38806	0.0	1.29E-4	ENSG00000197241	ENST00000400906	D	0.84873	-1.91	4.14	1.07	0.20283	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);Sugar transporter, conserved site (1);	0.073712	0.56097	D	0.000038	D	0.92123	0.7503	H	0.94620	3.56	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.82721	-0.0317	10	0.87932	D	0	.	3.6925	0.08351	0.1956:0.0:0.4708:0.3336	.	348	Q6PXP3	GTR7_HUMAN	W	348	ENSP00000383698:R348W	ENSP00000383698:R348W	R	-	1	2	SLC2A7	8992863	0.003000	0.15002	0.006000	0.13384	0.307000	0.27823	0.338000	0.19858	0.378000	0.24764	0.491000	0.48974	CGG	SLC2A7	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt	ENSG00000197241		0.677	SLC2A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC2A7	HGNC	protein_coding	OTTHUMT00000127768.3	-	0.00	23	0	G	NM_207420		9070276	-1	tier1	-	no_errors	ENST00000400906	ensembl	human	known	74_37	missense	37.62	60	38	SNP	0.003	A
SLC32A1	140679	genome.wustl.edu	37	20	37357187	37357187	+	Missense_Mutation	SNP	G	G	A			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr20:37357187G>A	ENST00000217420.1	+	2	1746	c.1483G>A	c.(1483-1485)Gcc>Acc	p.A495T		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	495					aging (GO:0007568)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell tip (GO:0051286)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cone cell pedicle (GO:0044316)|dendrite (GO:0030425)|dendrite terminus (GO:0044292)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	gamma-aminobutyric acid:proton symporter activity (GO:0015495)|glycine transmembrane transporter activity (GO:0015187)	p.A495T(1)		breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	CTTCGACGTCGCCATCTTCGT	0.647																																																	1	Substitution - Missense(1)	lung(1)											24.0	23.0	23.0					20																	37357187		2202	4300	6502	SO:0001583	missense	0			AL133519	CCDS13307.1	20q11	2013-05-22			ENSG00000101438	ENSG00000101438		"""Solute carriers"""	11018	protein-coding gene	gene with protein product			"""vesicular inhibitory amino acid transporter"""	VIAAT		19843525	Standard	NM_080552		Approved	VGAT, bA122O1.1	uc002xjc.3	Q9H598	OTTHUMG00000032457	ENST00000217420.1:c.1483G>A	20.37:g.37357187G>A	ENSP00000217420:p.Ala495Thr		Q8N489	Missense_Mutation	SNP	pfam_AA_transpt_TM	p.A495T	ENST00000217420.1	37	c.1483	CCDS13307.1	20	.	.	.	.	.	.	.	.	.	.	G	11.40	1.626666	0.28978	.	.	ENSG00000101438	ENST00000217420	T	0.02197	4.4	4.95	4.95	0.65309	.	0.112837	0.64402	D	0.000012	T	0.03220	0.0094	L	0.48642	1.525	0.58432	D	0.999996	P	0.35107	0.484	B	0.37601	0.254	T	0.57728	-0.7761	10	0.29301	T	0.29	-18.9514	11.1747	0.48593	0.0:0.0:0.8161:0.1839	.	495	Q9H598	VIAAT_HUMAN	T	495	ENSP00000217420:A495T	ENSP00000217420:A495T	A	+	1	0	SLC32A1	36790601	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.508000	0.53378	2.455000	0.83008	0.655000	0.94253	GCC	SLC32A1	-	pfam_AA_transpt_TM	ENSG00000101438		0.647	SLC32A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC32A1	HGNC	protein_coding	OTTHUMT00000079206.1		0.00	16	0	G	NM_080552		37357187	+1			no_errors	ENST00000217420	ensembl	human	known	74_37	missense	5.63	67	4	SNP	0.997	A
SLC38A2	54407	genome.wustl.edu	37	12	46758906	46758906	+	Silent	SNP	C	C	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr12:46758906C>T	ENST00000256689.5	-	8	1074	c.630G>A	c.(628-630)tcG>tcA	p.S210S	SLC38A2_ENST00000551374.1_Silent_p.S48S|SLC38A2_ENST00000547252.1_5'UTR	NM_018976.4	NP_061849.2	Q96QD8	S38A2_HUMAN	solute carrier family 38, member 2	210					amino acid transport (GO:0006865)|glutamate secretion (GO:0014047)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|sodium ion transport (GO:0006814)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|symporter activity (GO:0015293)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	18	Lung SC(27;0.192)|Renal(347;0.236)		OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)		TTCTAAACAGCGACAAAGGAA	0.378																																					Ovarian(9;448 492 8335 28722 40361)												0													119.0	121.0	120.0					12																	46758906		2203	4300	6503	SO:0001819	synonymous_variant	0			AB037803	CCDS8749.1	12q13.11	2014-08-12			ENSG00000134294	ENSG00000134294		"""Solute carriers"""	13448	protein-coding gene	gene with protein product		605180				10747860, 17237199	Standard	NM_018976		Approved	SAT2, ATA2, KIAA1382, SNAT2	uc001rpg.3	Q96QD8	OTTHUMG00000169471	ENST00000256689.5:c.630G>A	12.37:g.46758906C>T			Q6IA88|Q6ZMG2|Q9HAV3|Q9NVA8|Q9P2G5	Silent	SNP	pfam_AA_transpt_TM	p.S210	ENST00000256689.5	37	c.630	CCDS8749.1	12																																																																																			SLC38A2	-	pfam_AA_transpt_TM	ENSG00000134294		0.378	SLC38A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC38A2	HGNC	protein_coding	OTTHUMT00000404226.1		0.00	11	0	C			46758906	-1			no_errors	ENST00000256689	ensembl	human	known	74_37	silent	10.26	35	4	SNP	0.053	T
SLC6A14	11254	genome.wustl.edu	37	X	115569091	115569091	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chrX:115569091G>T	ENST00000371900.4	+	2	270	c.182G>T	c.(181-183)aGa>aTa	p.R61I		NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid transporter), member 14	61					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)|transport (GO:0006810)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	amino acid transmembrane transporter activity (GO:0015171)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	AATGTGTGGAGATTTCCATAT	0.453																																																	0													112.0	102.0	105.0					X																	115569091		2203	4300	6503	SO:0001583	missense	0			AF151978	CCDS14570.1	Xq23	2013-05-22			ENSG00000087916	ENSG00000268104		"""Solute carriers"""	11047	protein-coding gene	gene with protein product		300444	"""solute carrier family 6 (neurotransmitter transporter), member 14"""			10446133	Standard	NM_007231		Approved		uc004eqi.3	Q9UN76	OTTHUMG00000022245	ENST00000371900.4:c.182G>T	X.37:g.115569091G>T	ENSP00000360967:p.Arg61Ile		Q5H942	Missense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport	p.R61I	ENST00000371900.4	37	c.182	CCDS14570.1	X	.	.	.	.	.	.	.	.	.	.	G	25.5	4.648633	0.87958	.	.	ENSG00000087916	ENST00000371900	D	0.84298	-1.83	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	D	0.94072	0.8100	H	0.95079	3.62	0.80722	D	1	D	0.62365	0.991	D	0.63793	0.918	D	0.95565	0.8633	10	0.87932	D	0	.	15.0443	0.71816	0.0:0.0:1.0:0.0	.	61	Q9UN76	S6A14_HUMAN	I	61	ENSP00000360967:R61I	ENSP00000360967:R61I	R	+	2	0	SLC6A14	115483119	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	8.953000	0.93041	2.435000	0.82474	0.600000	0.82982	AGA	SLC6A14	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport	ENSG00000087916		0.453	SLC6A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A14	HGNC	protein_coding	OTTHUMT00000057986.1		0.00	17	0	G			115569091	+1			no_errors	ENST00000371900	ensembl	human	known	74_37	missense	6.15	61	4	SNP	1.000	T
SLC6A3	6531	genome.wustl.edu	37	5	1409228	1409228	+	Missense_Mutation	SNP	C	C	T	rs75916702		TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr5:1409228C>T	ENST00000270349.9	-	11	1538	c.1411G>A	c.(1411-1413)Gtc>Atc	p.V471I	SLC6A3_ENST00000453492.2_Missense_Mutation_p.V471I	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	471			V -> I (in dbSNP:rs75916702). {ECO:0000269|PubMed:21179162}.		adenohypophysis development (GO:0021984)|aging (GO:0007568)|cation transmembrane transport (GO:0098655)|cell death (GO:0008219)|dopamine biosynthetic process (GO:0042416)|dopamine catabolic process (GO:0042420)|dopamine transport (GO:0015872)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|neurotransmitter biosynthetic process (GO:0042136)|positive regulation of multicellular organism growth (GO:0040018)|prepulse inhibition (GO:0060134)|regulation of dopamine metabolic process (GO:0042053)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|sensory perception of smell (GO:0007608)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine transmembrane transporter activity (GO:0005329)|dopamine:sodium symporter activity (GO:0005330)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Benzatropine(DB00245)|Benzphetamine(DB00865)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Cocaine(DB00907)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Diphenylpyraline(DB01146)|Dopamine(DB00988)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fencamfamine(DB01463)|Imipramine(DB00458)|Ioflupane I 123(DB08824)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Pethidine(DB00454)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Trimipramine(DB00726)|Venlafaxine(DB00285)	AGCGTGAAGACGTAGATGCCA	0.572																																																	0													55.0	48.0	51.0					5																	1409228		2201	4295	6496	SO:0001583	missense	0				CCDS3863.1	5p15.3	2013-07-19	2013-07-19		ENSG00000142319	ENSG00000142319		"""Solute carriers"""	11049	protein-coding gene	gene with protein product	"""dopamine transporter"""	126455	"""solute carrier family 6 (neurotransmitter transporter, dopamine), member 3"", ""dopamine transporter 1"""	DAT1		1406597	Standard	NM_001044		Approved	DAT	uc003jck.3	Q01959	OTTHUMG00000131016	ENST00000270349.9:c.1411G>A	5.37:g.1409228C>T	ENSP00000270349:p.Val471Ile		A2RUN4|Q14996	Missense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_dopamine	p.V471I	ENST00000270349.9	37	c.1411	CCDS3863.1	5	.	.	.	.	.	.	.	.	.	.	C	15.49	2.850331	0.51270	.	.	ENSG00000142319	ENST00000270349;ENST00000453492	T;T	0.74315	-0.83;-0.83	3.65	3.65	0.41850	.	0.132318	0.49916	N	0.000126	T	0.75332	0.3835	L	0.46157	1.445	0.47547	D	0.999454	D	0.56287	0.975	P	0.52424	0.698	T	0.78740	-0.2086	10	0.66056	D	0.02	.	13.2113	0.59825	0.0:1.0:0.0:0.0	.	471	Q01959	SC6A3_HUMAN	I	471	ENSP00000270349:V471I;ENSP00000399806:V471I	ENSP00000270349:V471I	V	-	1	0	SLC6A3	1462228	0.998000	0.40836	0.989000	0.46669	0.664000	0.39144	3.355000	0.52262	2.042000	0.60477	0.555000	0.69702	GTC	SLC6A3	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport	ENSG00000142319		0.572	SLC6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A3	HGNC	protein_coding	OTTHUMT00000253650.3		0.00	14	0	C	NM_001044		1409228	-1			no_errors	ENST00000270349	ensembl	human	known	74_37	missense	12.16	65	9	SNP	0.999	T
SLIT2	9353	genome.wustl.edu	37	4	20618585	20618585	+	Silent	SNP	C	C	T	rs141395818		TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr4:20618585C>T	ENST00000504154.1	+	35	4152	c.3900C>T	c.(3898-3900)aaC>aaT	p.N1300N	SLIT2_ENST00000503823.1_Silent_p.N1292N|SLIT2_ENST00000503837.1_Silent_p.N1296N|SLIT2_ENST00000273739.5_Silent_p.N1313N	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1300	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						CTGGGCAGAACGGAACCAGCT	0.582													C|||	1	0.000199681	0.0	0.0	5008	,	,		17412	0.0		0.001	False		,,,				2504	0.0																0								C		0,4406		0,0,2203	52.0	50.0	51.0		3900	-10.0	0.3	4	dbSNP_134	51	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	SLIT2	NM_004787.1		0,3,6500	TT,TC,CC		0.0349,0.0,0.0231		1300/1530	20618585	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	0			AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.3900C>T	4.37:g.20618585C>T			B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Silent	SNP	pfam_EG-like_dom,pfam_Laminin_G,pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G	p.N1300	ENST00000504154.1	37	c.3900	CCDS3426.1	4																																																																																			SLIT2	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	ENSG00000145147		0.582	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLIT2	HGNC	protein_coding	OTTHUMT00000250396.2		0.00	15	0	C			20618585	+1			no_errors	ENST00000504154	ensembl	human	known	74_37	silent	12.82	34	5	SNP	0.348	T
SMIM11	54065	genome.wustl.edu	37	21	35774491	35774492	+	3'UTR	INS	-	-	T	rs534668511|rs371965936	byFrequency	TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr21:35774491_35774492insT	ENST00000399299.1	+	0	449_450				SMIM11_ENST00000481710.1_3'UTR|AP000322.54_ENST00000410005.1_5'Flank			P58511	SIM11_HUMAN	small integral membrane protein 11							integral component of membrane (GO:0016021)											ATGGAGGAGGATTTTTTTTTTT	0.376																																																	0																																										SO:0001624	3_prime_UTR_variant	0			BC015596	CCDS33550.1	21q22.12	2012-12-03	2012-12-03	2012-12-03	ENSG00000205670	ENSG00000205670			1293	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 51"", ""family with sequence similarity 165, member B"""	C21orf51, FAM165B			Standard	NM_058182		Approved		uc002ytu.4	P58511	OTTHUMG00000086193	ENST00000399299.1:c.*98->T	21.37:g.35774502_35774502dupT				RNA	INS	-	NULL	ENST00000399299.1	37	NULL		21																																																																																			SMIM11	-	-	ENSG00000205670		0.376	SMIM11-002	PUTATIVE	basic|exp_conf	protein_coding	SMIM11	HGNC	protein_coding	OTTHUMT00000194076.1		0.00	11	0	-	NM_058182		35774492	+1	tier1		no_errors	ENST00000481710	ensembl	human	known	74_37	rna	11.36	39	5	INS	0.000:0.002	T
SNHG23	100507242	genome.wustl.edu	37	14	101423544	101423544	+	lincRNA	SNP	G	G	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr14:101423544G>T	ENST00000556637.1	+	0	464				SNORD114-5_ENST00000362928.1_RNA|SNORD113_ENST00000363280.1_RNA|SNORD114-4_ENST00000363962.1_RNA|SNORD114-6_ENST00000364393.1_RNA																							ATCATATTTGGTGAATATATG	0.318																																																	0													67.0	64.0	64.0					14																	101423544		876	1991	2867			0																															14.37:g.101423544G>T				RNA	SNP	-	NULL	ENST00000556637.1	37	NULL		14																																																																																			SNORD114-6	-	-	ENSG00000201263		0.318	AL132709.5-004	KNOWN	basic	lincRNA	SNORD114-6	HGNC	lincRNA	OTTHUMT00000414510.1	-	0.00	10	0	G			101423544	+1	tier1	-	no_errors	ENST00000364393	ensembl	human	known	74_37	rna	15.00	34	6	SNP	0.012	T
SPACA1	81833	genome.wustl.edu	37	6	88757798	88757798	+	Missense_Mutation	SNP	G	G	A	rs145474393		TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr6:88757798G>A	ENST00000237201.1	+	1	292	c.175G>A	c.(175-177)Gcg>Acg	p.A59T		NM_030960.2	NP_112222.1	Q9HBV2	SACA1_HUMAN	sperm acrosome associated 1	59					acrosome assembly (GO:0001675)	acrosomal membrane (GO:0002080)|integral component of membrane (GO:0016021)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	20		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.11)		CAGCGAGACCGCGGAGAACTA	0.682																																																	0								G	THR/ALA	1,4393		0,1,2196	57.0	38.0	44.0		175	-0.5	0.0	6	dbSNP_134	44	0,8584		0,0,4292	no	missense	SPACA1	NM_030960.2	58	0,1,6488	AA,AG,GG		0.0,0.0228,0.0077	benign	59/295	88757798	1,12977	2197	4292	6489	SO:0001583	missense	0			AF203447	CCDS5014.1	6q15	2012-09-20			ENSG00000118434	ENSG00000118434			14967	protein-coding gene	gene with protein product		612739					Standard	NM_030960		Approved	SAMP32	uc003pmn.3	Q9HBV2	OTTHUMG00000015183	ENST00000237201.1:c.175G>A	6.37:g.88757798G>A	ENSP00000237201:p.Ala59Thr			Missense_Mutation	SNP	NULL	p.A59T	ENST00000237201.1	37	c.175	CCDS5014.1	6	.	.	.	.	.	.	.	.	.	.	G	4.738	0.137152	0.09032	2.28E-4	0.0	ENSG00000118434	ENST00000237201	T	0.23147	1.92	1.74	-0.464	0.12160	.	2.884380	0.01460	N	0.015851	T	0.02533	0.0077	N	0.03608	-0.345	0.09310	N	1	B	0.16396	0.017	B	0.08055	0.003	T	0.23619	-1.0183	10	0.12430	T	0.62	5.1214	3.8251	0.08851	0.0:0.2696:0.4566:0.2738	.	59	Q9HBV2	SACA1_HUMAN	T	59	ENSP00000237201:A59T	ENSP00000237201:A59T	A	+	1	0	SPACA1	88814517	0.000000	0.05858	0.000000	0.03702	0.104000	0.19210	-1.292000	0.02772	-0.144000	0.11314	0.462000	0.41574	GCG	SPACA1	-	NULL	ENSG00000118434		0.682	SPACA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SPACA1	HGNC	protein_coding	OTTHUMT00000041459.1	-	0.00	8	0	G			88757798	+1	tier1	rs145474393	no_errors	ENST00000237201	ensembl	human	known	74_37	missense	22.86	27	8	SNP	0.000	A
SPATS2	65244	genome.wustl.edu	37	12	49884473	49884473	+	Missense_Mutation	SNP	A	A	T	rs142230440	byFrequency	TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr12:49884473A>T	ENST00000553127.1	+	7	736	c.223A>T	c.(223-225)Agt>Tgt	p.S75C	SPATS2_ENST00000552918.1_Missense_Mutation_p.S75C|SPATS2_ENST00000552557.1_3'UTR|SPATS2_ENST00000321898.6_Missense_Mutation_p.S75C			Q86XZ4	SPAS2_HUMAN	spermatogenesis associated, serine-rich 2	75						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|prostate(1)|urinary_tract(4)	21						AGGTAGTGCCAGTGAAGTACT	0.363																																																	0													126.0	117.0	120.0					12																	49884473		2203	4300	6503	SO:0001583	missense	0			AK023179	CCDS31794.1	12q13.12	2009-06-12							18650	protein-coding gene	gene with protein product		611667				11944913, 17989879	Standard	NM_023071		Approved	SPATA10, SCR59, FLJ13117	uc001rud.2	Q86XZ4		ENST00000553127.1:c.223A>T	12.37:g.49884473A>T	ENSP00000448228:p.Ser75Cys		A8K8G9|Q9H7D4|Q9H8Y7|Q9H8Z8	Missense_Mutation	SNP	pfam_DUF1387,superfamily_UBA-like	p.S75C	ENST00000553127.1	37	c.223	CCDS31794.1	12	.	.	.	.	.	.	.	.	.	.	A	19.62	3.861623	0.71949	.	.	ENSG00000123352	ENST00000550997;ENST00000553127;ENST00000321898;ENST00000552918;ENST00000395063	.	.	.	5.24	5.24	0.73138	UBA-like (1);	0.364000	0.29987	N	0.010698	T	0.45756	0.1358	L	0.29908	0.895	0.80722	D	1	D	0.57257	0.979	P	0.46975	0.533	T	0.46219	-0.9207	9	0.51188	T	0.08	-8.1089	11.5475	0.50702	1.0:0.0:0.0:0.0	.	75	Q86XZ4	SPAS2_HUMAN	C	75	.	ENSP00000326841:S75C	S	+	1	0	SPATS2	48170740	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.668000	0.61568	1.974000	0.57490	0.472000	0.43445	AGT	SPATS2	-	superfamily_UBA-like	ENSG00000123352		0.363	SPATS2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SPATS2	HGNC	protein_coding	OTTHUMT00000404023.1		0.00	23	0	A	NM_023071		49884473	+1			no_errors	ENST00000321898	ensembl	human	known	74_37	missense	8.33	44	4	SNP	1.000	T
SPEG	10290	genome.wustl.edu	37	2	220343878	220343878	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr2:220343878G>T	ENST00000312358.7	+	23	5172	c.5040G>T	c.(5038-5040)gaG>gaT	p.E1680D	AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1680	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GCACAGAGGAGCTGCTGGAGC	0.652																																																	0													61.0	71.0	68.0					2																	220343878		2085	4216	6301	SO:0001583	missense	0			BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.5040G>T	2.37:g.220343878G>T	ENSP00000311684:p.Glu1680Asp		A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.E1680D	ENST00000312358.7	37	c.5040	CCDS42824.1	2	.	.	.	.	.	.	.	.	.	.	G	14.87	2.665810	0.47677	.	.	ENSG00000072195	ENST00000312358;ENST00000265327	T	0.36157	1.27	4.42	3.53	0.40419	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.40640	N	0.001057	T	0.27629	0.0679	N	0.00894	-1.105	0.80722	D	1	D	0.67145	0.996	D	0.67548	0.952	T	0.51834	-0.8655	10	0.52906	T	0.07	.	12.5885	0.56430	0.0:0.0:0.833:0.1669	.	1680	Q15772	SPEG_HUMAN	D	1680	ENSP00000311684:E1680D	ENSP00000265327:E1680D	E	+	3	2	SPEG	220052122	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.658000	0.61497	1.060000	0.40578	0.561000	0.74099	GAG	SPEG	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom	ENSG00000072195		0.652	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SPEG	HGNC	protein_coding	OTTHUMT00000130252.2		0.00	21	0	G	NM_005876		220343878	+1			no_errors	ENST00000312358	ensembl	human	novel	74_37	missense	12.50	35	5	SNP	1.000	T
SPOCD1	90853	genome.wustl.edu	37	1	32256313	32256313	+	Missense_Mutation	SNP	C	C	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr1:32256313C>T	ENST00000360482.2	-	16	3671	c.3542G>A	c.(3541-3543)cGt>cAt	p.R1181H	SPOCD1_ENST00000373648.2_3'UTR|SPOCD1_ENST00000257100.3_Missense_Mutation_p.R661H|SPOCD1_ENST00000533231.1_Missense_Mutation_p.R1168H|RP11-84A19.3_ENST00000527035.1_RNA	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	1181					negative regulation of phosphatase activity (GO:0010923)|transcription, DNA-templated (GO:0006351)					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		GCTAGACAAACGCTGCAGAGG	0.637																																																	0																																										SO:0001583	missense	0			AK058077	CCDS347.1, CCDS60066.1, CCDS72748.1	1p35.1	2014-06-13			ENSG00000134668	ENSG00000134668			26338	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 146"""					12477932	Standard	NM_144569		Approved	FLJ25348, PPP1R146	uc001bts.1	Q6ZMY3	OTTHUMG00000003879	ENST00000360482.2:c.3542G>A	1.37:g.32256313C>T	ENSP00000353670:p.Arg1181His		Q24JU3|Q6PI90|Q8N869|Q8N8U0|Q8NBC6|Q96LN6	Missense_Mutation	SNP	pfam_TFIIS_cen_dom,pfam_SPOC_C,superfamily_TFIIS_cen_dom,smart_TFS2M	p.R1181H	ENST00000360482.2	37	c.3542	CCDS347.1	1	.	.	.	.	.	.	.	.	.	.	C	2.041	-0.419982	0.04734	.	.	ENSG00000134668	ENST00000257100;ENST00000360482;ENST00000452755;ENST00000533231	T;T;T;T	0.45276	0.91;1.9;0.9;1.9	3.01	-1.32	0.09201	.	.	.	.	.	T	0.17408	0.0418	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.23261	-1.0193	9	0.19590	T	0.45	10.5699	4.0528	0.09803	0.1831:0.1207:0.0:0.6962	.	1168;604;1181	Q6ZMY3-2;E9PPM7;Q6ZMY3	.;.;SPOC1_HUMAN	H	661;1181;604;1168	ENSP00000257100:R661H;ENSP00000353670:R1181H;ENSP00000399778:R604H;ENSP00000435851:R1168H	ENSP00000257100:R661H	R	-	2	0	SPOCD1	32028900	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.625000	0.05534	-0.197000	0.10350	-1.384000	0.01168	CGT	SPOCD1	-	NULL	ENSG00000134668		0.637	SPOCD1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPOCD1	HGNC	protein_coding	OTTHUMT00000381912.1	-	0.00	24	0	C	NM_144569		32256313	-1	tier1	-	no_errors	ENST00000360482	ensembl	human	known	74_37	missense	17.78	37	8	SNP	0.001	T
SRSF11	9295	genome.wustl.edu	37	1	70694241	70694241	+	Intron	SNP	T	T	A			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr1:70694241T>A	ENST00000370950.3	+	3	419				SRSF11_ENST00000370949.1_5'Flank|SRSF11_ENST00000405432.1_Intron|SRSF11_ENST00000370951.1_Intron|SRSF11_ENST00000454435.2_Intron|SRSF11_ENST00000436161.2_Intron			Q05519	SRS11_HUMAN	serine/arginine-rich splicing factor 11						gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			large_intestine(3)|ovary(2)|skin(1)	6						TGCAGAAGGTTTGTGCTTTGT	0.408																																																	0													258.0	222.0	234.0					1																	70694241		2203	4300	6503	SO:0001627	intron_variant	0			M74002	CCDS647.1, CCDS53332.1	1p31.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000116754	ENSG00000116754		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10782	protein-coding gene	gene with protein product	"""SR splicing factor 11"""	602010	"""splicing factor, arginine/serine-rich 11"""	SFRS11		1896467, 20516191	Standard	NM_004768		Approved	p54, NET2	uc001des.3	Q05519	OTTHUMG00000009342	ENST00000370950.3:c.337+3T>A	1.37:g.70694241T>A			Q5T758|Q8IWE6	RNA	SNP	-	NULL	ENST00000370950.3	37	NULL	CCDS647.1	1																																																																																			SRSF11	-	-	ENSG00000116754		0.408	SRSF11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SRSF11	HGNC	protein_coding	OTTHUMT00000025889.1	-	0.00	8	0	T	NM_004768		70694241	+1	tier1	-	no_errors	ENST00000463877	ensembl	human	known	74_37	rna	16.67	45	9	SNP	1.000	A
ST8SIA6	338596	genome.wustl.edu	37	10	17450200	17450200	+	Intron	SNP	C	C	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr10:17450200C>T	ENST00000377602.4	-	3	275				ST8SIA6-AS1_ENST00000377597.2_RNA|ST8SIA6-AS1_ENST00000457649.2_RNA|ST8SIA6-AS1_ENST00000511755.2_RNA|ST8SIA6-AS1_ENST00000451190.2_RNA|ST8SIA6-AS1_ENST00000451225.2_RNA	NM_001004470.1	NP_001004470.1	P61647	SIA8F_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6						carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|ganglioside biosynthetic process (GO:0001574)|glycolipid biosynthetic process (GO:0009247)|glycoprotein metabolic process (GO:0009100)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked glycosylation (GO:0006493)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	sialyltransferase activity (GO:0008373)			endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1)	37						GGATGACGACCGAAGAAACCC	0.468																																																	0																																										SO:0001627	intron_variant	0				CCDS31158.1	10p13	2013-03-01	2005-02-07	2005-02-07	ENSG00000148488	ENSG00000148488		"""Sialyltransferases"""	23317	protein-coding gene	gene with protein product	"""ST8Sia VI"""	610139	"""sialyltransferase 8F (alpha-2, 8-sialyltransferase)"""	SIAT8F		11980897	Standard	XR_242697		Approved		uc001ipd.3	P61647	OTTHUMG00000017748	ENST00000377602.4:c.201-17581G>A	10.37:g.17450200C>T			B0YJ97|B9EH72|Q5VZH4	RNA	SNP	-	NULL	ENST00000377602.4	37	NULL	CCDS31158.1	10																																																																																			ST8SIA6-AS1	-	-	ENSG00000204832		0.468	ST8SIA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST8SIA6-AS1	HGNC	protein_coding	OTTHUMT00000047036.1	-	0.00	9	0	C	NM_001004470		17450200	+1	tier1	-	no_errors	ENST00000377597	ensembl	human	known	74_37	rna	13.33	52	8	SNP	0.000	T
STAG3L4	64940	genome.wustl.edu	37	7	66773930	66773930	+	RNA	SNP	G	G	A			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr7:66773930G>A	ENST00000416602.2	+	0	371					NR_040586.1		Q8TBR4	ST3L4_HUMAN	stromal antigen 3-like 4 (pseudogene)											endometrium(2)|lung(5)	7		Lung NSC(55;0.0839)|all_lung(88;0.181)				AGGACTCGGGGGACTATCCTC	0.483																																																	0													90.0	91.0	91.0					7																	66773930		2203	4300	6503			0					7q11.21	2013-06-26	2013-06-26		ENSG00000106610	ENSG00000106610			33887	pseudogene	pseudogene			"""stromal antigen 3-like 4"""				Standard	NR_040585		Approved	FLJ13195, STAG3L4P	uc010laj.3	Q8TBR4	OTTHUMG00000156920		7.37:g.66773930G>A			Q9H8W0	RNA	SNP	-	NULL	ENST00000416602.2	37	NULL		7																																																																																			STAG3L4	-	-	ENSG00000106610		0.483	STAG3L4-001	KNOWN	basic	processed_transcript	STAG3L4	HGNC	pseudogene	OTTHUMT00000346611.1	-	0.00	16	0	G	NM_022906		66773930	+1	tier1	-	no_errors	ENST00000416602	ensembl	human	known	74_37	rna	19.23	42	10	SNP	0.996	A
STAU1	6780	genome.wustl.edu	37	20	47734363	47734363	+	Missense_Mutation	SNP	G	G	A			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr20:47734363G>A	ENST00000371856.2	-	11	1870	c.1460C>T	c.(1459-1461)aCg>aTg	p.T487M	STAU1_ENST00000360426.4_Missense_Mutation_p.T406M|STAU1_ENST00000371828.3_Missense_Mutation_p.T412M|STAU1_ENST00000340954.7_Missense_Mutation_p.T406M|STAU1_ENST00000371792.1_Missense_Mutation_p.T404M|STAU1_ENST00000347458.5_Missense_Mutation_p.T406M|STAU1_ENST00000371802.1_Missense_Mutation_p.T412M	NM_017453.2	NP_059347.2	O95793	STAU1_HUMAN	staufen double-stranded RNA binding protein 1	487					intracellular mRNA localization (GO:0008298)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|rough endoplasmic reticulum (GO:0005791)	double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			AGAGGGTCTCGTGAGAGGTCC	0.527																																																	0													88.0	83.0	85.0					20																	47734363		2203	4300	6503	SO:0001583	missense	0				CCDS13414.1, CCDS13415.1, CCDS33481.1	20q13.1	2014-06-13	2013-06-05	2005-11-04	ENSG00000124214	ENSG00000124214			11370	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 150"""	601716	"""staufen (Drosophila, RNA-binding protein)"", ""staufen, RNA binding protein (Drosophila)"", ""staufen, RNA binding protein, homolog 1 (Drosophila)"""	STAU		8884277, 15680326	Standard	XM_005260524		Approved	PPP1R150	uc002xud.3	O95793	OTTHUMG00000032691	ENST00000371856.2:c.1460C>T	20.37:g.47734363G>A	ENSP00000360922:p.Thr487Met		A8K9Z4|E1P5Y1|E1P608|Q5JW29|Q6GTM4|Q9H5B4|Q9H5B5|Q9Y3Q2	Missense_Mutation	SNP	pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom	p.T487M	ENST00000371856.2	37	c.1460	CCDS13414.1	20	.	.	.	.	.	.	.	.	.	.	G	14.82	2.650926	0.47362	.	.	ENSG00000124214	ENST00000371828;ENST00000340954;ENST00000371856;ENST00000360426;ENST00000347458;ENST00000371805;ENST00000371802;ENST00000371792	D;D;D;D;D;D;D	0.82433	-1.61;-1.61;-1.61;-1.61;-1.61;-1.61;-1.61	5.62	3.7	0.42460	.	0.144614	0.64402	N	0.000006	T	0.72890	0.3517	L	0.41710	1.295	0.80722	D	1	P;B	0.39071	0.658;0.403	B;B	0.30316	0.114;0.068	T	0.71991	-0.4425	10	0.54805	T	0.06	-8.0263	12.2062	0.54353	0.1373:0.0:0.8627:0.0	.	487;412	O95793;Q5JW29	STAU1_HUMAN;.	M	412;406;487;406;406;406;412;404	ENSP00000360893:T412M;ENSP00000345425:T406M;ENSP00000360922:T487M;ENSP00000353604:T406M;ENSP00000323443:T406M;ENSP00000360867:T412M;ENSP00000360857:T404M	ENSP00000345425:T406M	T	-	2	0	STAU1	47167770	1.000000	0.71417	0.747000	0.31113	0.971000	0.66376	6.183000	0.72002	0.749000	0.32854	-0.133000	0.14855	ACG	STAU1	-	NULL	ENSG00000124214		0.527	STAU1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	STAU1	HGNC	protein_coding	OTTHUMT00000079633.1	-	0.00	24	0	G	NM_017453		47734363	-1	tier1	-	no_errors	ENST00000371856	ensembl	human	known	74_37	missense	12.62	90	13	SNP	0.998	A
STMN2	11075	genome.wustl.edu	37	8	80567209	80567209	+	Missense_Mutation	SNP	C	C	A			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr8:80567209C>A	ENST00000220876.7	+	4	774	c.392C>A	c.(391-393)gCg>gAg	p.A131E	STMN2_ENST00000518491.1_Missense_Mutation_p.A120E|STMN2_ENST00000518111.1_Missense_Mutation_p.A131E	NM_001199214.1|NM_007029.3	NP_001186143.1|NP_008960.2	Q93045	STMN2_HUMAN	stathmin 2	131	SLD. {ECO:0000255|PROSITE- ProRule:PRU00998}.				cellular response to nerve growth factor stimulus (GO:1990090)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of microtubule polymerization (GO:0031115)|negative regulation of neuron projection development (GO:0010977)|positive regulation of microtubule depolymerization (GO:0031117)|positive regulation of neuron projection development (GO:0010976)	cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|vesicle (GO:0031982)	calcium-dependent protein binding (GO:0048306)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11	all_lung(9;8.34e-05)		Epithelial(68;0.0229)|all cancers(69;0.0874)			AGCAAGATGGCGGAGGAAAAG	0.468																																																	0													82.0	79.0	80.0					8																	80567209		1936	4131	6067	SO:0001583	missense	0				CCDS43748.1, CCDS56542.1	8q21.13	2014-04-01	2014-04-01	2001-07-13	ENSG00000104435	ENSG00000104435			10577	protein-coding gene	gene with protein product		600621	"""stathmin-like 2"""	SCGN10		8622778, 12140291	Standard	NM_007029		Approved	SCG10	uc022awk.1	Q93045	OTTHUMG00000164610	ENST00000220876.7:c.392C>A	8.37:g.80567209C>A	ENSP00000220876:p.Ala131Glu		A8K9M2|G3V110|O14952|Q6PK68	Missense_Mutation	SNP	pfam_Stathmin_fam,superfamily_Stathmin_fam,pirsf_Stathmin_fam,prints_Stathmin_fam	p.A131E	ENST00000220876.7	37	c.392	CCDS43748.1	8	.	.	.	.	.	.	.	.	.	.	C	33	5.290377	0.95546	.	.	ENSG00000104435	ENST00000220876;ENST00000414622;ENST00000518111;ENST00000518491	.	.	.	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	D	0.85128	0.5626	M	0.86502	2.82	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.86773	0.1974	9	0.87932	D	0	-4.2887	19.9928	0.97374	0.0:1.0:0.0:0.0	.	131	Q93045	STMN2_HUMAN	E	131;120;131;120	.	ENSP00000220876:A131E	A	+	2	0	STMN2	80729764	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.745000	0.94114	0.650000	0.86243	GCG	STMN2	-	pfam_Stathmin_fam,superfamily_Stathmin_fam,pirsf_Stathmin_fam,prints_Stathmin_fam	ENSG00000104435		0.468	STMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STMN2	HGNC	protein_coding	OTTHUMT00000379261.2		0.00	12	0	C	NM_007029		80567209	+1			no_errors	ENST00000220876	ensembl	human	known	74_37	missense	8.00	46	4	SNP	1.000	A
STXBP5	134957	genome.wustl.edu	37	6	147525742	147525742	+	Missense_Mutation	SNP	A	A	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr6:147525742A>T	ENST00000321680.6	+	1	74	c.74A>T	c.(73-75)cAg>cTg	p.Q25L	STXBP5_ENST00000546097.1_Missense_Mutation_p.Q25L|STXBP5_ENST00000367481.3_Missense_Mutation_p.Q25L|STXBP5-AS1_ENST00000367477.3_RNA|STXBP5-AS1_ENST00000427394.1_RNA|STXBP5_ENST00000367480.3_Missense_Mutation_p.Q25L|STXBP5-AS1_ENST00000417502.1_RNA|STXBP5_ENST00000179882.6_5'Flank	NM_001127715.2	NP_001121187.1	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	25	Poly-Gln.				exocytosis (GO:0006887)|negative regulation of exocytosis (GO:0045920)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|synapse (GO:0045202)	syntaxin-1 binding (GO:0017075)			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		CAGCAGCAACAGCAGCAGCAT	0.667																																																	0													28.0	33.0	31.0					6																	147525742		2202	4297	6499	SO:0001583	missense	0			AK055484	CCDS5211.1, CCDS47499.1	6q24.3	2013-01-10			ENSG00000164506	ENSG00000164506		"""WD repeat domain containing"""	19665	protein-coding gene	gene with protein product		604586				9620695, 14767561	Standard	NM_139244		Approved	tomosyn, LLGL3	uc010khz.2	Q5T5C0	OTTHUMG00000015766	ENST00000321680.6:c.74A>T	6.37:g.147525742A>T	ENSP00000321826:p.Gln25Leu		Q14DF3|Q5T5C1|Q5T5C2|Q8NBG8|Q96NG9	Missense_Mutation	SNP	pfam_LLGL2,pfam_WD40_repeat,pfam_Lgl_C_dom,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,pfscan_Synaptobrevin,prints_Lethal2_giant	p.Q25L	ENST00000321680.6	37	c.74	CCDS47499.1	6	.	.	.	.	.	.	.	.	.	.	A	16.97	3.268997	0.59540	.	.	ENSG00000164506	ENST00000367481;ENST00000546097;ENST00000321680;ENST00000367480	T;D;T;T	0.85484	2.65;-1.99;2.65;2.76	4.24	1.74	0.24563	.	0.789683	0.11568	N	0.551105	T	0.69278	0.3093	M	0.67953	2.075	0.80722	D	1	B;B	0.09022	0.002;0.002	B;B	0.08055	0.003;0.002	T	0.60707	-0.7210	10	0.30078	T	0.28	.	6.6664	0.23042	0.5753:0.2863:0.0:0.1384	.	25;25	Q5T5C0-2;Q5T5C0	.;STXB5_HUMAN	L	25	ENSP00000356451:Q25L;ENSP00000441479:Q25L;ENSP00000321826:Q25L;ENSP00000356450:Q25L	ENSP00000321826:Q25L	Q	+	2	0	STXBP5	147567435	1.000000	0.71417	0.997000	0.53966	0.920000	0.55202	0.899000	0.28417	0.063000	0.16370	0.482000	0.46254	CAG	STXBP5	-	NULL	ENSG00000164506		0.667	STXBP5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	STXBP5	HGNC	protein_coding	OTTHUMT00000042606.1	-	0.00	43	0	A			147525742	+1	tier1	-	no_errors	ENST00000321680	ensembl	human	known	74_37	missense	43.52	60	47	SNP	1.000	T
STYK1	55359	genome.wustl.edu	37	12	10783828	10783829	+	Missense_Mutation	DNP	CT	CT	GC			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C|T	C|T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr12:10783828_10783829CT>GC	ENST00000075503.3	-	5	786_787	c.266_267AG>GC	c.(265-267)gAG>gGC	p.E89G		NM_018423.2	NP_060893.2	Q6J9G0	STYK1_HUMAN	serine/threonine/tyrosine kinase 1	89						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						CCACGGATGTCTCCTTAAGTGG	0.54										HNSCC(73;0.22)																																							0																																										SO:0001583	missense	0			AF251059	CCDS8629.1	12p13.2	2005-01-21							18889	protein-coding gene	gene with protein product		611433				12841579	Standard	NM_018423		Approved	SuRTK106, DKFZp761P1010, NOK	uc001qys.2	Q6J9G0		ENST00000075503.3:c.266_267delinsGC	12.37:g.10783828_10783829delinsGC	ENSP00000075503:p.Glu89Gly		B2R9T2|Q52LR3|Q9BXY2|Q9NSH1	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E89D|p.E89G	ENST00000075503.3	37	c.267|c.266	CCDS8629.1	12																																																																																			STYK1	-	NULL	ENSG00000060140		0.540	STYK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STYK1	HGNC	protein_coding	OTTHUMT00000399622.1		0.00	19	0	C|T	NM_018423		10783828|10783829	-1			no_errors	ENST00000075503	ensembl	human	known	74_37	missense	11.90	37	5	SNP	0.945|0.953	G|C
SUPT4H1	6827	genome.wustl.edu	37	17	56423631	56423631	+	Silent	SNP	G	G	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr17:56423631G>T	ENST00000225504.3	-	5	396	c.330C>A	c.(328-330)tcC>tcA	p.S110S	BZRAP1-AS1_ENST00000583841.1_RNA|SUPT4H1_ENST00000580947.1_Silent_p.S110S|BZRAP1-AS1_ENST00000580515.1_RNA|BZRAP1-AS1_ENST00000578025.1_RNA|SUPT4H1_ENST00000581540.1_Silent_p.S101S|BZRAP1-AS1_ENST00000585236.1_RNA|BZRAP1-AS1_ENST00000583826.1_RNA|BZRAP1-AS1_ENST00000579527.1_RNA|BZRAP1-AS1_ENST00000580633.1_RNA|BZRAP1-AS1_ENST00000580022.1_RNA|BZRAP1-AS1_ENST00000578334.1_RNA|BZRAP1-AS1_ENST00000579859.1_RNA|BZRAP1-AS1_ENST00000582348.1_RNA|SUPT4H1_ENST00000577396.1_Silent_p.S69S	NM_003168.1	NP_003159.1	P63272	SPT4H_HUMAN	suppressor of Ty 4 homolog 1 (S. cerevisiae)	110				QGIVRELKSRGVAYKSRDTAIKT -> HAKDSRSNVNKYEP RESSEGHDTCLASLFHSLRHSNSLFAL (in Ref. 3; BAC85230). {ECO:0000305}.	chromatin remodeling (GO:0006338)|gene expression (GO:0010467)|negative regulation of DNA-templated transcription, elongation (GO:0032785)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	DSIF complex (GO:0032044)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			large_intestine(2)|skin(2)	4	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTGTGTCTCTGGATTTGTAGG	0.473																																					NSCLC(25;723 896 19867 29219 40028)												0													155.0	136.0	142.0					17																	56423631		2203	4300	6503	SO:0001819	synonymous_variant	0			U38817	CCDS11606.1	17q22	2014-06-23	2001-11-28		ENSG00000213246	ENSG00000213246			11467	protein-coding gene	gene with protein product		603555	"""suppressor of Ty (S.cerevisiae) 4 homolog 1"""	SUPT4H		8786137	Standard	NM_003168		Approved	SPT4H	uc002iwe.2	P63272	OTTHUMG00000178926	ENST00000225504.3:c.330C>A	17.37:g.56423631G>T			B2R4X8|D3DTZ4|Q16550|Q62387|Q6ZP89	Silent	SNP	pfam_Spt4/RpoE2_Znf,pirsf_Spt4	p.S110	ENST00000225504.3	37	c.330	CCDS11606.1	17																																																																																			SUPT4H1	-	pirsf_Spt4	ENSG00000213246		0.473	SUPT4H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUPT4H1	HGNC	protein_coding	OTTHUMT00000444000.1		0.00	16	0	G	NM_003168		56423631	-1			no_errors	ENST00000225504	ensembl	human	known	74_37	silent	9.09	50	5	SNP	1.000	T
SYNE1	23345	genome.wustl.edu	37	6	152765617	152765617	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr6:152765617G>T	ENST00000367255.5	-	30	4367	c.3766C>A	c.(3766-3768)Cag>Aag	p.Q1256K	SYNE1_ENST00000413186.2_Missense_Mutation_p.Q1256K|SYNE1_ENST00000341594.5_Missense_Mutation_p.Q1322K|SYNE1_ENST00000423061.1_Missense_Mutation_p.Q1263K|SYNE1_ENST00000367248.3_Missense_Mutation_p.Q1246K|SYNE1_ENST00000367253.4_Missense_Mutation_p.Q1256K|SYNE1_ENST00000448038.1_Missense_Mutation_p.Q1263K|SYNE1_ENST00000265368.4_Missense_Mutation_p.Q1256K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1256					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GCTTGTTCCTGGACTTCTTTA	0.373										HNSCC(10;0.0054)																																							0													114.0	113.0	113.0					6																	152765617		2203	4300	6503	SO:0001583	missense	0			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.3766C>A	6.37:g.152765617G>T	ENSP00000356224:p.Gln1256Lys		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.Q1256K	ENST00000367255.5	37	c.3766	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	G	14.89	2.670702	0.47781	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186	T;T;T;T;T;D;D;D	0.87491	0.75;0.74;0.66;0.74;0.82;-2.1;-2.26;-2.25	5.96	4.1	0.47936	.	0.104115	0.42821	N	0.000655	T	0.63757	0.2538	N	0.24115	0.695	0.80722	D	1	B;B;B;B;B;B	0.18863	0.002;0.003;0.005;0.031;0.003;0.005	B;B;B;B;B;B	0.24974	0.003;0.006;0.008;0.057;0.006;0.014	T	0.60073	-0.7334	10	0.06494	T	0.89	.	15.1405	0.72607	0.0:0.0:0.7508:0.2492	.	1239;1256;1246;1256;1256;1263	B3W695;Q8NF91;F5GXQ8;Q8NF91-6;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.;.	K	1256;1263;1256;1263;1322;1256;1246;1256	ENSP00000356224:Q1256K;ENSP00000396024:Q1263K;ENSP00000265368:Q1256K;ENSP00000390975:Q1263K;ENSP00000341887:Q1322K;ENSP00000356222:Q1256K;ENSP00000356217:Q1246K;ENSP00000414510:Q1256K	ENSP00000265368:Q1256K	Q	-	1	0	SYNE1	152807310	1.000000	0.71417	0.977000	0.42913	0.984000	0.73092	4.151000	0.58105	0.772000	0.33382	0.655000	0.94253	CAG	SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom	ENSG00000131018		0.373	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2		0.00	14	0	G	NM_182961		152765617	-1			no_errors	ENST00000265368	ensembl	human	known	74_37	missense	5.88	64	4	SNP	0.993	T
SYT3	84258	genome.wustl.edu	37	19	51135688	51135688	+	Missense_Mutation	SNP	C	C	T	rs141570463	byFrequency	TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr19:51135688C>T	ENST00000338916.4	-	2	1162	c.529G>A	c.(529-531)Gct>Act	p.A177T	SYT3_ENST00000600079.1_Missense_Mutation_p.A177T|SYT3_ENST00000593901.1_Missense_Mutation_p.A177T|SYT3_ENST00000544769.1_Missense_Mutation_p.A177T	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	177					calcium ion-dependent exocytosis (GO:0017156)|positive regulation of vesicle fusion (GO:0031340)|response to calcium ion (GO:0051592)	cell junction (GO:0030054)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|metal ion binding (GO:0046872)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		TTGACCCCAGCGGCCACTGCT	0.662																																																	0								C	THR/ALA,THR/ALA,THR/ALA	1,4403		0,1,2201	29.0	30.0	29.0		529,529,529	2.2	0.3	19	dbSNP_134	29	10,8590		0,10,4290	yes	missense,missense,missense	SYT3	NM_001160328.1,NM_001160329.1,NM_032298.2	58,58,58	0,11,6491	TT,TC,CC		0.1163,0.0227,0.0846	benign,benign,benign	177/591,177/591,177/591	51135688	11,12993	2202	4300	6502	SO:0001583	missense	0			AL136594	CCDS12798.1	19q13.33	2014-07-02			ENSG00000213023	ENSG00000213023		"""Synaptotagmins"""	11511	protein-coding gene	gene with protein product		600327				7749232	Standard	NM_032298		Approved		uc002psv.3	Q9BQG1	OTTHUMG00000183064	ENST00000338916.4:c.529G>A	19.37:g.51135688C>T	ENSP00000340914:p.Ala177Thr		Q8N5Z1|Q8N640	Missense_Mutation	SNP	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,prints_Synaptotagmin,prints_C2_dom,pfscan_C2_dom	p.A177T	ENST00000338916.4	37	c.529	CCDS12798.1	19	.	.	.	.	.	.	.	.	.	.	C	11.50	1.657292	0.29425	2.27E-4	0.001163	ENSG00000213023	ENST00000338916;ENST00000544769	T;T	0.61859	0.07;0.07	4.71	2.19	0.27852	.	0.414870	0.18698	U	0.133666	T	0.35799	0.0944	N	0.14661	0.345	0.29323	N	0.867193	B	0.06786	0.001	B	0.01281	0.0	T	0.21484	-1.0244	10	0.38643	T	0.18	.	7.7098	0.28671	0.0:0.6851:0.0:0.3149	.	177	Q9BQG1	SYT3_HUMAN	T	177	ENSP00000340914:A177T;ENSP00000438883:A177T	ENSP00000340914:A177T	A	-	1	0	SYT3	55827500	0.097000	0.21791	0.347000	0.25668	0.989000	0.77384	0.623000	0.24447	0.509000	0.28195	-0.345000	0.07892	GCT	SYT3	-	NULL	ENSG00000213023		0.662	SYT3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SYT3	HGNC	protein_coding	OTTHUMT00000464910.1		0.00	23	0	C	NM_032298		51135688	-1			no_errors	ENST00000338916	ensembl	human	known	74_37	missense	5.36	53	3	SNP	0.609	T
TAAR5	9038	genome.wustl.edu	37	6	132910410	132910410	+	Missense_Mutation	SNP	G	G	A			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr6:132910410G>A	ENST00000258034.2	-	1	467	c.416C>T	c.(415-417)cCc>cTc	p.P139L		NM_003967.2	NP_003958.2	O14804	TAAR5_HUMAN	trace amine associated receptor 5	139					G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|trimethylamine receptor activity (GO:1990081)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	32	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)		ATAGAGCAGGGGGTCACAGAT	0.562																																																	0													97.0	103.0	101.0					6																	132910410		2203	4300	6503	SO:0001583	missense	0			AF021818	CCDS5156.1	6q23.2	2012-08-08			ENSG00000135569	ENSG00000135569		"""GPCR / Class A : Trace amine associated receptors"""	30236	protein-coding gene	gene with protein product		607405				9464258, 15718104	Standard	NM_003967		Approved	PNR	uc003qdk.2	O14804	OTTHUMG00000015581	ENST00000258034.2:c.416C>T	6.37:g.132910410G>A	ENSP00000258034:p.Pro139Leu		D8KZS1|Q2M1V1|Q4VBL1|Q5VUQ3|Q6NTA8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_TAAR_fam	p.P139L	ENST00000258034.2	37	c.416	CCDS5156.1	6	.	.	.	.	.	.	.	.	.	.	G	23.1	4.379364	0.82682	.	.	ENSG00000135569	ENST00000258034	T	0.61274	0.12	5.58	5.58	0.84498	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000006	D	0.86239	0.5885	H	0.99347	4.525	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91045	0.4874	10	0.72032	D	0.01	-19.3237	19.769	0.96353	0.0:0.0:1.0:0.0	.	139	O14804	TAAR5_HUMAN	L	139	ENSP00000258034:P139L	ENSP00000258034:P139L	P	-	2	0	TAAR5	132952103	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.665000	0.83852	2.906000	0.99361	0.655000	0.94253	CCC	TAAR5	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000135569		0.562	TAAR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAAR5	HGNC	protein_coding	OTTHUMT00000042257.1	-	0.00	13	0	G	NM_003967		132910410	-1	tier1	-	no_errors	ENST00000258034	ensembl	human	known	74_37	missense	20.00	24	6	SNP	1.000	A
TACC2	10579	genome.wustl.edu	37	10	123843281	123843281	+	Silent	SNP	C	C	T	rs551434293	byFrequency	TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr10:123843281C>T	ENST00000369005.1	+	4	1606	c.1266C>T	c.(1264-1266)ctC>ctT	p.L422L	TACC2_ENST00000358010.1_Intron|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515273.1_Silent_p.L422L|TACC2_ENST00000334433.3_Silent_p.L422L|TACC2_ENST00000515603.1_Silent_p.L422L|TACC2_ENST00000453444.2_Silent_p.L422L	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	422					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)	p.L422L(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CTTCAAGCCTCGCTTCATTCC	0.557													C|||	3	0.000599042	0.0	0.0	5008	,	,		20250	0.0		0.0	False		,,,				2504	0.0031																1	Substitution - coding silent(1)	urinary_tract(1)											73.0	75.0	74.0					10																	123843281		2203	4300	6503	SO:0001819	synonymous_variant	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.1266C>T	10.37:g.123843281C>T			Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Silent	SNP	pfam_TACC	p.L422	ENST00000369005.1	37	c.1266	CCDS7626.1	10																																																																																			TACC2	-	NULL	ENSG00000138162		0.557	TACC2-001	KNOWN	basic|CCDS	protein_coding	TACC2	HGNC	protein_coding	OTTHUMT00000090004.1		0.00	13	0	C			123843281	+1			no_errors	ENST00000334433	ensembl	human	known	74_37	silent	6.45	29	2	SNP	0.000	T
TACR3	6870	genome.wustl.edu	37	4	104640303	104640303	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr4:104640303G>T	ENST00000304883.2	-	1	670	c.530C>A	c.(529-531)aCg>aAg	p.T177K		NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	177					aging (GO:0007568)|hyperosmotic salinity response (GO:0042538)|positive regulation of blood pressure (GO:0045777)|positive regulation of heart rate (GO:0010460)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of dopamine metabolic process (GO:0042053)|regulation of feeding behavior (GO:0060259)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to morphine (GO:0043278)|tachykinin receptor signaling pathway (GO:0007217)	cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	tachykinin receptor activity (GO:0004995)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		CGCAATGGCCGTCATGGAGTA	0.507																																																	0													52.0	50.0	50.0					4																	104640303		2203	4300	6503	SO:0001583	missense	0			M89473	CCDS3664.1	4q25	2012-08-08			ENSG00000169836	ENSG00000169836		"""GPCR / Class A : Tachykinin receptors"""	11528	protein-coding gene	gene with protein product	"""neurokinin beta receptor"""	162332				1374246	Standard	NM_001059		Approved	NK3R	uc003hxe.1	P29371	OTTHUMG00000131124	ENST00000304883.2:c.530C>A	4.37:g.104640303G>T	ENSP00000303325:p.Thr177Lys		Q0P510	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NK3_rcpt,prints_Neurokn_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_NK1_rcpt	p.T177K	ENST00000304883.2	37	c.530	CCDS3664.1	4	.	.	.	.	.	.	.	.	.	.	G	19.49	3.836679	0.71373	.	.	ENSG00000169836	ENST00000304883	T	0.74315	-0.83	5.14	5.14	0.70334	GPCR, rhodopsin-like superfamily (1);	0.212960	0.48767	D	0.000179	D	0.90830	0.7120	H	0.96996	3.92	0.58432	D	0.999997	D	0.89917	1.0	D	0.70227	0.968	D	0.93973	0.7251	10	0.87932	D	0	.	17.6101	0.88050	0.0:0.0:1.0:0.0	.	177	P29371	NK3R_HUMAN	K	177	ENSP00000303325:T177K	ENSP00000303325:T177K	T	-	2	0	TACR3	104859752	1.000000	0.71417	0.963000	0.40424	0.431000	0.31685	9.319000	0.96338	2.386000	0.81285	0.591000	0.81541	ACG	TACR3	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt	ENSG00000169836		0.507	TACR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TACR3	HGNC	protein_coding	OTTHUMT00000253804.1		0.00	8	0	G	NM_001059		104640303	-1			no_errors	ENST00000304883	ensembl	human	known	74_37	missense	14.29	18	3	SNP	1.000	T
TBC1D22B	55633	genome.wustl.edu	37	6	37247304	37247304	+	Missense_Mutation	SNP	G	G	A			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr6:37247304G>A	ENST00000373491.3	+	3	484	c.338G>A	c.(337-339)cGg>cAg	p.R113Q		NM_017772.2	NP_060242.2	Q9NU19	TB22B_HUMAN	TBC1 domain family, member 22B	113							Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)	15			OV - Ovarian serous cystadenocarcinoma(102;0.241)			AAACCAGAACGGTCCCAGTCA	0.483																																																	0													110.0	106.0	107.0					6																	37247304		2203	4300	6503	SO:0001583	missense	0			AK096340	CCDS4832.1	6p21.2	2005-01-05	2005-01-05	2005-01-05	ENSG00000065491	ENSG00000065491			21602	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 197"""	C6orf197			Standard	NM_017772		Approved	FLJ20337, dJ744I24.2	uc003onn.3	Q9NU19	OTTHUMG00000014619	ENST00000373491.3:c.338G>A	6.37:g.37247304G>A	ENSP00000362590:p.Arg113Gln		A8KA28|Q32MQ8|Q5VUK9|Q6P4C3|Q7Z6P7|Q9BPV6|Q9BUT5|Q9NXB6	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.R113Q	ENST00000373491.3	37	c.338	CCDS4832.1	6	.	.	.	.	.	.	.	.	.	.	G	12.66	2.005768	0.35415	.	.	ENSG00000065491	ENST00000373491	T	0.14516	2.5	5.56	5.56	0.83823	.	0.250062	0.39475	N	0.001359	T	0.02848	0.0085	N	0.05124	-0.11	0.51482	D	0.999921	B	0.02656	0.0	B	0.04013	0.001	T	0.41875	-0.9484	10	0.12430	T	0.62	.	16.7943	0.85597	0.0:0.0:1.0:0.0	.	113	Q9NU19	TB22B_HUMAN	Q	113	ENSP00000362590:R113Q	ENSP00000362590:R113Q	R	+	2	0	TBC1D22B	37355282	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	4.976000	0.63785	2.766000	0.95052	0.655000	0.94253	CGG	TBC1D22B	-	NULL	ENSG00000065491		0.483	TBC1D22B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D22B	HGNC	protein_coding	OTTHUMT00000040402.1	-	0.00	11	0	G	NM_017772		37247304	+1	tier1	-	no_errors	ENST00000373491	ensembl	human	known	74_37	missense	24.00	19	6	SNP	1.000	A
TBC1D2B	23102	genome.wustl.edu	37	15	78290609	78290609	+	Missense_Mutation	SNP	G	G	A			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr15:78290609G>A	ENST00000300584.3	-	13	2784	c.2785C>T	c.(2785-2787)Cgg>Tgg	p.R929W	RP11-114H24.6_ENST00000562716.1_RNA|TBC1D2B_ENST00000409931.3_Silent_p.S911S|TBC1D2B_ENST00000492078.1_5'UTR	NM_015079.5|NM_144572.1	NP_055894.6|NP_653173.1	Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B	929							Rab GTPase activator activity (GO:0005097)			breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						AGCTCCAGCCGGACTTTCTCC	0.622																																																	0													37.0	31.0	33.0					15																	78290609		2196	4291	6487	SO:0001583	missense	0			AB028978	CCDS32301.2, CCDS45314.1	15q24.3-q25.1	2005-11-29			ENSG00000167202	ENSG00000167202			29183	protein-coding gene	gene with protein product						10470851	Standard	NM_015079		Approved	KIAA1055	uc002bcy.4	Q9UPU7	OTTHUMG00000152885	ENST00000300584.3:c.2785C>T	15.37:g.78290609G>A	ENSP00000300584:p.Arg929Trp		A7MD42|Q8N1F9|Q9NXM0	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,superfamily_Prefoldin,smart_Pleckstrin_homology,smart_Rab-GTPase-TBC_dom,pfscan_Pleckstrin_homology,pfscan_Rab-GTPase-TBC_dom	p.R929W	ENST00000300584.3	37	c.2785	CCDS45314.1	15	.	.	.	.	.	.	.	.	.	.	g	14.03	2.413819	0.42817	.	.	ENSG00000167202	ENST00000300584	T	0.10668	2.85	4.48	3.54	0.40534	.	.	.	.	.	T	0.08044	0.0201	.	.	.	0.80722	D	1	P	0.38992	0.653	B	0.29353	0.101	T	0.27872	-1.0061	8	0.34782	T	0.22	.	12.5788	0.56380	0.0:0.0:0.8324:0.1676	.	929	Q9UPU7	TBD2B_HUMAN	W	929	ENSP00000300584:R929W	ENSP00000300584:R929W	R	-	1	2	TBC1D2B	76077664	1.000000	0.71417	0.997000	0.53966	0.262000	0.26303	4.683000	0.61679	0.823000	0.34589	0.479000	0.44913	CGG	TBC1D2B	-	NULL	ENSG00000167202		0.622	TBC1D2B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBC1D2B	HGNC	protein_coding	OTTHUMT00000328369.3	-	0.00	19	0	G	NM_015079		78290609	-1	tier1	-	no_errors	ENST00000300584	ensembl	human	known	74_37	missense	15.25	50	9	SNP	1.000	A
TBX2	6909	genome.wustl.edu	37	17	59479069	59479069	+	Silent	SNP	G	G	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr17:59479069G>T	ENST00000240328.3	+	2	701	c.420G>T	c.(418-420)gtG>gtT	p.V140V	RP11-332H18.4_ENST00000591313.1_RNA|RP11-332H18.5_ENST00000585765.1_RNA|RP11-332H18.4_ENST00000590421.1_RNA|RP11-332H18.4_ENST00000589814.1_RNA|RP11-332H18.4_ENST00000592009.1_RNA	NM_005994.3	NP_005985.3	Q13207	TBX2_HUMAN	T-box 2	140					aorta morphogenesis (GO:0035909)|atrioventricular canal development (GO:0036302)|cardiac muscle tissue development (GO:0048738)|cell aging (GO:0007569)|cellular senescence (GO:0090398)|developmental growth involved in morphogenesis (GO:0060560)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|endocardial cushion morphogenesis (GO:0003203)|mammary placode formation (GO:0060596)|muscle cell fate determination (GO:0007521)|negative regulation of cardiac chamber formation (GO:1901211)|negative regulation of heart looping (GO:1901208)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|outflow tract septum morphogenesis (GO:0003148)|palate development (GO:0060021)|pharynx development (GO:0060465)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|lung(7)|ovary(1)	9						CCTTCAAGGTGCGAGTCAGCG	0.567																																					GBM(3;187 253 11467 14965 23079)												0													46.0	43.0	44.0					17																	59479069		2203	4300	6503	SO:0001819	synonymous_variant	0			AB209378	CCDS11627.2	17q23.2	2012-01-23			ENSG00000121068	ENSG00000121068		"""T-boxes"""	11597	protein-coding gene	gene with protein product		600747				8530034	Standard	NM_005994		Approved		uc010wox.2	Q13207	OTTHUMG00000156986	ENST00000240328.3:c.420G>T	17.37:g.59479069G>T			Q16424|Q7Z647	Missense_Mutation	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,pfscan_TF_T-box	p.C133F	ENST00000240328.3	37	c.398	CCDS11627.2	17																																																																																			TBX2	-	NULL	ENSG00000121068		0.567	TBX2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	TBX2	HGNC	protein_coding	OTTHUMT00000346977.2		0.00	16	0	G	NM_005994		59479069	+1			no_errors	ENST00000419047	ensembl	human	known	74_37	missense	6.56	57	4	SNP	0.999	T
TBX2	6909	genome.wustl.edu	37	17	59482957	59482957	+	Silent	SNP	G	G	A			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr17:59482957G>A	ENST00000240328.3	+	6	1727	c.1446G>A	c.(1444-1446)ccG>ccA	p.P482P	RP11-332H18.4_ENST00000592009.1_RNA	NM_005994.3	NP_005985.3	Q13207	TBX2_HUMAN	T-box 2	482	Gly-rich.				aorta morphogenesis (GO:0035909)|atrioventricular canal development (GO:0036302)|cardiac muscle tissue development (GO:0048738)|cell aging (GO:0007569)|cellular senescence (GO:0090398)|developmental growth involved in morphogenesis (GO:0060560)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|endocardial cushion morphogenesis (GO:0003203)|mammary placode formation (GO:0060596)|muscle cell fate determination (GO:0007521)|negative regulation of cardiac chamber formation (GO:1901211)|negative regulation of heart looping (GO:1901208)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|outflow tract septum morphogenesis (GO:0003148)|palate development (GO:0060021)|pharynx development (GO:0060465)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|lung(7)|ovary(1)	9						TCTTTGGGCCGCTGGGAGCCG	0.692																																					GBM(3;187 253 11467 14965 23079)												0													7.0	10.0	9.0					17																	59482957		2141	4199	6340	SO:0001819	synonymous_variant	0			AB209378	CCDS11627.2	17q23.2	2012-01-23			ENSG00000121068	ENSG00000121068		"""T-boxes"""	11597	protein-coding gene	gene with protein product		600747				8530034	Standard	NM_005994		Approved		uc010wox.2	Q13207	OTTHUMG00000156986	ENST00000240328.3:c.1446G>A	17.37:g.59482957G>A			Q16424|Q7Z647	Silent	SNP	pfam_TF_T-box,pfam_TBX,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box,prints_TF_Brachyury	p.P482	ENST00000240328.3	37	c.1446	CCDS11627.2	17																																																																																			TBX2	-	NULL	ENSG00000121068		0.692	TBX2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	TBX2	HGNC	protein_coding	OTTHUMT00000346977.2		0.00	8	0	G	NM_005994		59482957	+1			no_errors	ENST00000240328	ensembl	human	novel	74_37	silent	8.06	57	5	SNP	0.001	A
TCEB3B	51224	genome.wustl.edu	37	18	44560118	44560118	+	Silent	SNP	G	G	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr18:44560118G>T	ENST00000332567.4	-	1	1870	c.1518C>A	c.(1516-1518)cgC>cgA	p.R506R	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	506	Activation domain. {ECO:0000250}.				regulation of DNA-templated transcription, elongation (GO:0032784)|transcription from RNA polymerase II promoter (GO:0006366)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CATTCACTCTGCGTCCAGGGA	0.587																																																	0													72.0	81.0	78.0					18																	44560118		2203	4300	6503	SO:0001819	synonymous_variant	0			BC036022	CCDS11932.1	18q21.1	2009-08-04			ENSG00000206181	ENSG00000206181			30771	protein-coding gene	gene with protein product	"""transcription elongation factor (SIII) elongin A2"", ""elongin A2"""	609522				7660129, 8244996	Standard	NM_016427		Approved	HsT832, TCEB3L	uc002lcr.1	Q8IYF1	OTTHUMG00000132649	ENST00000332567.4:c.1518C>A	18.37:g.44560118G>T			Q9P2V9	Silent	SNP	pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub	p.R506	ENST00000332567.4	37	c.1518	CCDS11932.1	18																																																																																			TCEB3B	-	NULL	ENSG00000206181		0.587	TCEB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCEB3B	HGNC	protein_coding	OTTHUMT00000255900.1		0.00	17	0	G	NM_016427		44560118	-1			no_errors	ENST00000332567	ensembl	human	known	74_37	silent	9.30	39	4	SNP	0.001	T
TCHH	7062	genome.wustl.edu	37	1	152082656	152082656	+	Missense_Mutation	SNP	G	G	A			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr1:152082656G>A	ENST00000368804.1	-	2	3036	c.3037C>T	c.(3037-3039)Cgc>Tgc	p.R1013C		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1013	10 X 30 AA tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			cactcctggcgccttctcttc	0.572																																																	0													98.0	99.0	99.0					1																	152082656		1965	4140	6105	SO:0001583	missense	0			L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.3037C>T	1.37:g.152082656G>A	ENSP00000357794:p.Arg1013Cys		Q5VUI3	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom	p.R1013C	ENST00000368804.1	37	c.3037	CCDS41396.1	1	.	.	.	.	.	.	.	.	.	.	G	4.809	0.150378	0.09185	.	.	ENSG00000159450	ENST00000368804	T	0.06068	3.35	2.58	1.64	0.23874	.	.	.	.	.	T	0.01320	0.0043	L	0.29908	0.895	0.09310	N	1	P	0.35155	0.487	B	0.24541	0.054	T	0.46665	-0.9175	9	0.56958	D	0.05	.	6.5376	0.22363	0.1586:0.0:0.8414:0.0	.	1013	Q07283	TRHY_HUMAN	C	1013	ENSP00000357794:R1013C	ENSP00000357794:R1013C	R	-	1	0	TCHH	150349280	0.000000	0.05858	0.001000	0.08648	0.047000	0.14425	0.202000	0.17295	0.264000	0.21851	0.462000	0.41574	CGC	TCHH	-	NULL	ENSG00000159450		0.572	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCHH	HGNC	protein_coding	OTTHUMT00000036671.2	-	0.00	25	0	G	NM_007113		152082656	-1	tier1	-	no_errors	ENST00000368804	ensembl	human	known	74_37	missense	31.58	64	30	SNP	0.000	A
TCP11	6954	genome.wustl.edu	37	6	35108644	35108644	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr6:35108644G>T	ENST00000512012.1	-	1	160	c.4C>A	c.(4-6)Cca>Aca	p.P2T	TCP11_ENST00000244645.3_5'UTR|TCP11_ENST00000412155.2_Intron|TCP11_ENST00000373979.2_5'UTR|TCP11_ENST00000373974.4_Intron|TCP11_ENST00000510465.1_5'UTR|TCP11_ENST00000418521.2_Intron|TCP11_ENST00000311875.5_Missense_Mutation_p.P15T|TCP11_ENST00000444780.2_Missense_Mutation_p.P15T			Q8WWU5	TCP11_HUMAN	t-complex 11, testis-specific	2					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)				breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4)	27						TTGACGTCTGGCATTTTGCTG	0.622																																																	0													40.0	42.0	42.0					6																	35108644		2049	4192	6241	SO:0001583	missense	0				CCDS4799.1, CCDS47413.1, CCDS59015.1, CCDS59016.1, CCDS59017.1, CCDS59018.1	6p21.31	2012-09-20	2012-09-20		ENSG00000124678	ENSG00000124678			11658	protein-coding gene	gene with protein product	"""fertilization-promoting peptide receptor"""	186982	"""t-complex 11 (a murine tcp homolog)"", ""t-complex 11 homolog (mouse)"""	D6S230E		1427894, 11756566, 21597245	Standard	NM_001093728		Approved	KIAA0229, FPPR	uc003okd.2	Q8WWU5	OTTHUMG00000014560	ENST00000512012.1:c.4C>A	6.37:g.35108644G>T	ENSP00000425995:p.Pro2Thr		B2RCE9|B3KQ27|B7Z7B5|B7Z7G1|B7Z7H4|B7Z7S8|E7EP29|J3KNG1|Q8NF85|Q9NQZ9|Q9NR39	Missense_Mutation	SNP	pfam_Tcp11	p.P15T	ENST00000512012.1	37	c.43		6	.	.	.	.	.	.	.	.	.	.	G	13.46	2.244185	0.39697	.	.	ENSG00000124678	ENST00000311875;ENST00000444780;ENST00000512012	T;T;T	0.14766	2.65;2.82;2.48	3.36	2.45	0.29901	.	0.723471	0.12462	N	0.466783	T	0.03095	0.0091	N	0.19112	0.55	0.39412	D	0.966779	B;B	0.31680	0.246;0.335	B;B	0.27170	0.077;0.071	T	0.36601	-0.9741	10	0.45353	T	0.12	.	7.9908	0.30239	0.0:0.0:0.7343:0.2657	.	15;75	B7Z7B5;Q5TB88	.;.	T	15;15;2	ENSP00000308708:P15T;ENSP00000404479:P15T;ENSP00000425995:P2T	ENSP00000308708:P15T	P	-	1	0	TCP11	35216622	0.868000	0.29978	0.384000	0.26145	0.224000	0.24922	0.801000	0.27055	0.939000	0.37446	0.650000	0.86243	CCA	TCP11	-	NULL	ENSG00000124678		0.622	TCP11-014	PUTATIVE	basic	protein_coding	TCP11	HGNC	protein_coding	OTTHUMT00000370354.1		0.00	11	0	G	NM_001093728		35108644	-1			no_errors	ENST00000311875	ensembl	human	known	74_37	missense	7.14	25	2	SNP	0.414	T
TEAD4	7004	genome.wustl.edu	37	12	3120205	3120205	+	Missense_Mutation	SNP	C	C	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr12:3120205C>T	ENST00000359864.2	+	4	452	c.262C>T	c.(262-264)Cgg>Tgg	p.R88W	TEAD4_ENST00000358409.2_Missense_Mutation_p.R88W|TEAD4_ENST00000397122.2_5'UTR	NM_003213.3	NP_003204	Q15561	TEAD4_HUMAN	TEA domain family member 4	88					gene expression (GO:0010467)|hippo signaling (GO:0035329)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	Ovarian(42;0.211)		OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)			CATCAAGCTCCGGACAGGGAA	0.632																																																	0													70.0	68.0	69.0					12																	3120205		2203	4300	6503	SO:0001583	missense	0			X94438	CCDS31729.1, CCDS31730.1, CCDS41737.1	12p13.3-p13.2	2008-05-14				ENSG00000197905			11717	protein-coding gene	gene with protein product		601714		TCF13L1		9889009, 8921372	Standard	NM_003213		Approved	TEF-3, TEFR-1, EFTR-2, RTEF-1	uc010sej.2	Q15561		ENST00000359864.2:c.262C>T	12.37:g.3120205C>T	ENSP00000352926:p.Arg88Trp		H0Y308|Q6MZR9|Q8NEV5|Q92883|Q96BK2	Missense_Mutation	SNP	pfam_TEA/ATTS,smart_TEA/ATTS,pirsf_TEF,pfscan_TEA/ATTS,prints_TEA/ATTS	p.R88W	ENST00000359864.2	37	c.262	CCDS31729.1	12	.	.	.	.	.	.	.	.	.	.	C	18.85	3.711644	0.68730	.	.	ENSG00000197905	ENST00000358409;ENST00000359864;ENST00000543035	T;T;T	0.35421	1.31;1.31;1.31	5.14	3.19	0.36642	.	0.000000	0.85682	D	0.000000	T	0.67562	0.2906	H	0.94183	3.505	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.73726	-0.3892	10	0.87932	D	0	-25.6998	11.1499	0.48453	0.5001:0.4998:0.0:0.0	.	88	Q15561	TEAD4_HUMAN	W	88	ENSP00000351184:R88W;ENSP00000352926:R88W;ENSP00000444528:R88W	ENSP00000351184:R88W	R	+	1	2	TEAD4	2990466	0.869000	0.29996	0.992000	0.48379	0.998000	0.95712	1.548000	0.36201	0.570000	0.29347	0.561000	0.74099	CGG	TEAD4	-	pfam_TEA/ATTS,smart_TEA/ATTS,pirsf_TEF,pfscan_TEA/ATTS,prints_TEA/ATTS	ENSG00000197905		0.632	TEAD4-001	KNOWN	non_ATG_start|basic|CCDS	protein_coding	TEAD4	HGNC	protein_coding	OTTHUMT00000398475.1	-	0.00	13	0	C	NM_003213		3120205	+1	tier1	-	no_errors	ENST00000359864	ensembl	human	known	74_37	missense	25.00	27	9	SNP	0.881	T
TEKT1	83659	genome.wustl.edu	37	17	6704115	6704115	+	Nonsense_Mutation	SNP	G	G	A			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr17:6704115G>A	ENST00000338694.2	-	7	1129	c.1000C>T	c.(1000-1002)Caa>Taa	p.Q334*	TEKT1_ENST00000535086.1_Nonsense_Mutation_p.Q188*	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN	tektin 1	334						cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				AGCCTATATTGTGCGACATCA	0.567											OREG0024124	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													227.0	203.0	211.0					17																	6704115		2203	4300	6503	SO:0001587	stop_gained	0				CCDS11083.1	17p13.2	2011-05-23			ENSG00000167858	ENSG00000167858			15534	protein-coding gene	gene with protein product		609002				11606253	Standard	NM_053285		Approved		uc002gdt.3	Q969V4	OTTHUMG00000102063	ENST00000338694.2:c.1000C>T	17.37:g.6704115G>A	ENSP00000341346:p.Gln334*	636	D3DTM7	Nonsense_Mutation	SNP	pfam_Tektin,prints_Tektin	p.Q334*	ENST00000338694.2	37	c.1000	CCDS11083.1	17	.	.	.	.	.	.	.	.	.	.	G	21.4	4.138014	0.77775	.	.	ENSG00000167858	ENST00000338694;ENST00000535086	.	.	.	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	18.0364	0.89305	0.0:0.0:1.0:0.0	.	.	.	.	X	334;188	.	ENSP00000341346:Q334X	Q	-	1	0	TEKT1	6644839	1.000000	0.71417	0.788000	0.31933	0.005000	0.04900	6.955000	0.76007	2.941000	0.99782	0.655000	0.94253	CAA	TEKT1	-	pfam_Tektin,prints_Tektin	ENSG00000167858		0.567	TEKT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEKT1	HGNC	protein_coding	OTTHUMT00000219867.2	-	0.00	31	0	G	NM_053285		6704115	-1	tier1	-	no_errors	ENST00000338694	ensembl	human	known	74_37	nonsense	45.28	29	24	SNP	0.992	A
TLN1	7094	genome.wustl.edu	37	9	35711288	35711288	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr9:35711288G>T	ENST00000314888.9	-	30	4336	c.3983C>A	c.(3982-3984)gCc>gAc	p.A1328D	TLN1_ENST00000540444.1_Missense_Mutation_p.A1328D	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	1328	Interaction with SYNM.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GAGGTTAGGGGCAGCAGGGTC	0.577																																																	0													57.0	53.0	54.0					9																	35711288		2203	4300	6503	SO:0001583	missense	0			AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.3983C>A	9.37:g.35711288G>T	ENSP00000316029:p.Ala1328Asp		A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Missense_Mutation	SNP	pfam_Talin_cent,pfam_Vinculin-bd_dom,pfam_ILWEQ_dom,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ_dom,pfscan_FERM_domain,pfscan_ILWEQ_dom	p.A1328D	ENST00000314888.9	37	c.3983	CCDS35009.1	9	.	.	.	.	.	.	.	.	.	.	G	19.55	3.848594	0.71603	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.14266	2.52;2.52	5.82	5.82	0.92795	Vinculin-binding site-containing domain (1);	0.404030	0.29830	N	0.011084	T	0.19087	0.0458	M	0.64567	1.98	0.47511	D	0.999445	B	0.14438	0.01	B	0.24974	0.057	T	0.14783	-1.0460	10	0.09843	T	0.71	-0.6176	20.093	0.97828	0.0:0.0:1.0:0.0	.	1328	Q9Y490	TLN1_HUMAN	D	1328	ENSP00000316029:A1328D;ENSP00000442981:A1328D	ENSP00000316029:A1328D	A	-	2	0	TLN1	35701288	1.000000	0.71417	0.992000	0.48379	0.968000	0.65278	9.842000	0.99487	2.756000	0.94617	0.561000	0.74099	GCC	TLN1	-	pfam_Vinculin-bd_dom,superfamily_Vinculin/catenin	ENSG00000137076		0.577	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLN1	HGNC	protein_coding	OTTHUMT00000052353.2		0.00	13	0	G	NM_006289		35711288	-1			no_errors	ENST00000314888	ensembl	human	known	74_37	missense	11.54	23	3	SNP	1.000	T
TLN2	83660	genome.wustl.edu	37	15	63004130	63004130	+	Missense_Mutation	SNP	C	C	T	rs568266946		TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr15:63004130C>T	ENST00000561311.1	+	21	2718	c.2488C>T	c.(2488-2490)Cgg>Tgg	p.R830W	TLN2_ENST00000306829.6_Missense_Mutation_p.R830W			Q9Y4G6	TLN2_HUMAN	talin 2	830					cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						GCGCCAGGCGCGGGTTCTGGC	0.512																																																	0													47.0	46.0	47.0					15																	63004130		2203	4300	6503	SO:0001583	missense	0			AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.2488C>T	15.37:g.63004130C>T	ENSP00000453508:p.Arg830Trp		A6NLB8	Missense_Mutation	SNP	pfam_Talin_cent,pfam_ILWEQ_dom,pfam_Vinculin-bd_dom,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ_dom,pfscan_FERM_domain,pfscan_ILWEQ_dom	p.R830W	ENST00000561311.1	37	c.2488	CCDS32261.1	15	.	.	.	.	.	.	.	.	.	.	C	18.46	3.629714	0.67015	.	.	ENSG00000171914	ENST00000306829	T	0.71934	-0.61	5.73	4.7	0.59300	.	0.000000	0.85682	D	0.000000	D	0.84306	0.5443	M	0.80746	2.51	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.86075	0.1540	10	0.87932	D	0	-27.1325	16.2128	0.82178	0.1746:0.8253:0.0:0.0	.	830	Q9Y4G6	TLN2_HUMAN	W	830	ENSP00000303476:R830W	ENSP00000303476:R830W	R	+	1	2	TLN2	60791422	0.010000	0.17322	1.000000	0.80357	0.803000	0.45373	0.195000	0.17155	2.861000	0.98227	0.655000	0.94253	CGG	TLN2	-	NULL	ENSG00000171914		0.512	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLN2	HGNC	protein_coding	OTTHUMT00000257878.2	-	0.00	12	0	C			63004130	+1	tier1	-	no_errors	ENST00000306829	ensembl	human	known	74_37	missense	25.58	32	11	SNP	0.995	T
TMCO3	55002	genome.wustl.edu	37	13	114188437	114188437	+	Missense_Mutation	SNP	G	G	T	rs200365797		TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr13:114188437G>T	ENST00000434316.2	+	9	1780	c.1421G>T	c.(1420-1422)tGt>tTt	p.C474F	TMCO3_ENST00000474393.1_3'UTR|TMCO3_ENST00000375391.1_Intron	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3	474						integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)			NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			TTTCTTTTATGTCTTGTTATA	0.408																																																	0													152.0	153.0	152.0					13																	114188437		2203	4300	6503	SO:0001583	missense	0			BC012564	CCDS9537.1	13q34	2008-02-05	2005-07-22	2005-07-22	ENSG00000150403	ENSG00000150403			20329	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 11"""	C13orf11			Standard	NM_017905		Approved	FLJ20623	uc001vtu.4	Q6UWJ1	OTTHUMG00000017389	ENST00000434316.2:c.1421G>T	13.37:g.114188437G>T	ENSP00000389399:p.Cys474Phe		Q5JSB1|Q6NUN1|Q8NG29|Q8TCI6|Q96EA6|Q9NWT2	Missense_Mutation	SNP	pfam_Cation/H_exchanger	p.C474F	ENST00000434316.2	37	c.1421	CCDS9537.1	13	.	.	.	.	.	.	.	.	.	.	G	10.56	1.385562	0.25031	.	.	ENSG00000150403	ENST00000434316	T	0.14022	2.54	4.75	4.75	0.60458	Cation/H+ exchanger (1);	0.000000	0.85682	D	0.000000	T	0.15522	0.0374	L	0.47078	1.49	0.80722	D	1	B;P	0.48350	0.328;0.909	B;B	0.40506	0.194;0.331	T	0.03184	-1.1063	10	0.39692	T	0.17	-0.1465	17.8175	0.88639	0.0:0.0:1.0:0.0	.	474;474	Q6UWJ1;Q6UWJ1-2	TMCO3_HUMAN;.	F	474	ENSP00000389399:C474F	ENSP00000389399:C474F	C	+	2	0	TMCO3	113236438	1.000000	0.71417	0.939000	0.37840	0.019000	0.09904	8.392000	0.90180	2.195000	0.70347	0.555000	0.69702	TGT	TMCO3	-	pfam_Cation/H_exchanger	ENSG00000150403		0.408	TMCO3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	TMCO3	HGNC	protein_coding	OTTHUMT00000045931.3		0.00	20	0	G	NM_017905		114188437	+1			no_errors	ENST00000434316	ensembl	human	known	74_37	missense	6.49	72	5	SNP	1.000	T
TMEM14B	81853	genome.wustl.edu	37	6	10749996	10749996	+	Intron	SNP	T	T	C			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr6:10749996T>C	ENST00000379542.5	+	3	267				SYCP2L_ENST00000543878.1_Intron|TMEM14B_ENST00000461342.1_Intron|RP11-421M1.8_ENST00000606522.1_lincRNA|RP11-637O19.3_ENST00000480294.1_Intron|TMEM14B_ENST00000481240.1_Intron|TMEM14B_ENST00000473276.1_Intron|TMEM14B_ENST00000491103.1_Intron|TMEM14B_ENST00000475942.1_Intron|TMEM14B_ENST00000467317.1_Intron|TMEM14B_ENST00000379530.3_Intron	NM_030969.3	NP_112231.3	Q9NUH8	TM14B_HUMAN	transmembrane protein 14B							integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(2)|skin(2)	11	Ovarian(93;0.107)|Breast(50;0.137)	all_hematologic(90;0.135)				TGTGAGTGCCTGTGTCCCTGA	0.483																																																	0																																										SO:0001627	intron_variant	0			AL024498	CCDS4515.1, CCDS47372.1, CCDS75395.1, CCDS75396.1, CCDS75397.1	6p25.1-p23	2008-08-12			ENSG00000137210	ENSG00000137210			21384	protein-coding gene	gene with protein product							Standard	NM_030969		Approved	MGC1223	uc003mzk.4	Q9NUH8	OTTHUMG00000014246	ENST00000379542.5:c.100+65T>C	6.37:g.10749996T>C			Q5THN7|Q5THN8|Q96IX7|Q9BVN8	RNA	SNP	-	NULL	ENST00000379542.5	37	NULL	CCDS4515.1	6																																																																																			TMEM14B	-	-	ENSG00000137210		0.483	TMEM14B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM14B	HGNC	protein_coding	OTTHUMT00000039836.1	-	0.00	14	0	T	NM_030969		10749996	+1	tier1	-	no_errors	ENST00000492297	ensembl	human	known	74_37	rna	23.46	62	19	SNP	0.000	C
TMEM223	79064	genome.wustl.edu	37	11	62558224	62558224	+	Silent	SNP	C	C	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr11:62558224C>T	ENST00000307366.7	-	2	506	c.480G>A	c.(478-480)cgG>cgA	p.R160R	TMEM223_ENST00000527073.1_Intron|TMEM223_ENST00000525631.1_Intron|NXF1_ENST00000533048.1_5'Flank	NM_001080501.2	NP_001073970.1	A0PJW6	TM223_HUMAN	transmembrane protein 223	160						integral component of membrane (GO:0016021)											GGACTTCACCCCGGTGGGCCA	0.537																																																	0													32.0	32.0	32.0					11																	62558224		1919	4132	6051	SO:0001819	synonymous_variant	0				CCDS44628.1	11q12.3	2008-12-08				ENSG00000168569			28464	protein-coding gene	gene with protein product							Standard	NM_001080501		Approved	MGC3196	uc001nve.2	A0PJW6		ENST00000307366.7:c.480G>A	11.37:g.62558224C>T			Q504S0|Q86YD4|Q8WUC5|Q96HG0	Silent	SNP	NULL	p.R160	ENST00000307366.7	37	c.480	CCDS44628.1	11																																																																																			TMEM223	-	NULL	ENSG00000168569		0.537	TMEM223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM223	HGNC	protein_coding	OTTHUMT00000395674.1		0.00	9	0	C			62558224	-1			no_errors	ENST00000307366	ensembl	human	known	74_37	silent	12.50	42	6	SNP	0.003	T
TMEM253	643382	genome.wustl.edu	37	14	21571353	21571353	+	Missense_Mutation	SNP	G	G	A			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr14:21571353G>A	ENST00000556585.2	+	7	708	c.590G>A	c.(589-591)aGc>aAc	p.S197N	ZNF219_ENST00000451119.2_Intron|TMEM253_ENST00000418511.2_Missense_Mutation_p.S197N			P0C7T8	TM253_HUMAN	transmembrane protein 253	197						integral component of membrane (GO:0016021)											ACGGTGGCCAGCACAGGAGCA	0.547											OREG0022566	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													130.0	125.0	127.0					14																	21571353		692	1591	2283	SO:0001583	missense	0				CCDS53884.1	14q11.2	2012-10-24	2012-10-24	2012-10-24	ENSG00000232070	ENSG00000232070			32545	protein-coding gene	gene with protein product			"""non-protein coding RNA 220"", ""chromosome 14 open reading frame 95"", ""chromosome 14 open reading frame 176"""	NCRNA00220, C14orf95, C14orf176			Standard	NM_001146683		Approved		uc010tlo.2	P0C7T8	OTTHUMG00000171361	ENST00000556585.2:c.590G>A	14.37:g.21571353G>A	ENSP00000451229:p.Ser197Asn	749		Missense_Mutation	SNP	NULL	p.S197N	ENST00000556585.2	37	c.590	CCDS53884.1	14	.	.	.	.	.	.	.	.	.	.	G	14.79	2.641867	0.47153	.	.	ENSG00000258495	ENST00000556585	.	.	.	5.0	3.15	0.36227	.	.	.	.	.	T	0.28699	0.0711	L	0.29908	0.895	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.13845	-1.0494	8	0.28530	T	0.3	-37.4405	7.9545	0.30033	0.19:0.0:0.81:0.0	.	197	P0C7T8	CN176_HUMAN	N	197	.	ENSP00000395470:S197N	S	+	2	0	C14orf176	20641193	0.023000	0.18921	0.745000	0.31077	0.971000	0.66376	0.835000	0.27531	1.338000	0.45544	-0.254000	0.11334	AGC	TMEM253	-	NULL	ENSG00000232070		0.547	TMEM253-003	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM253	HGNC	protein_coding	OTTHUMT00000413146.2		0.00	10	0	G	XM_926711		21571353	+1			no_errors	ENST00000418511	ensembl	human	known	74_37	missense	10.53	34	4	SNP	0.045	A
TMEM39A	55254	genome.wustl.edu	37	3	119155655	119155655	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr3:119155655G>T	ENST00000319172.5	-	7	1515	c.1095C>A	c.(1093-1095)agC>agA	p.S365R	TMEM39A_ENST00000486159.1_5'Flank	NM_018266.1	NP_060736.1	Q9NV64	TM39A_HUMAN	transmembrane protein 39A	365						integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	13				GBM - Glioblastoma multiforme(114;0.244)		GTGGAGCATTGCTGTAGGACC	0.438																																																	0													304.0	288.0	293.0					3																	119155655		2203	4300	6503	SO:0001583	missense	0			BC021277	CCDS2987.1	3q13.33	2005-01-10			ENSG00000176142	ENSG00000176142			25600	protein-coding gene	gene with protein product						12477932	Standard	NM_018266		Approved	FLJ10902	uc003eck.2	Q9NV64	OTTHUMG00000159361	ENST00000319172.5:c.1095C>A	3.37:g.119155655G>T	ENSP00000326063:p.Ser365Arg		D3DN80|Q53FN4|Q53GI1|Q6PKB5	Missense_Mutation	SNP	pfam_Uncharacterised_TMEM39	p.S365R	ENST00000319172.5	37	c.1095	CCDS2987.1	3	.	.	.	.	.	.	.	.	.	.	G	12.13	1.845690	0.32606	.	.	ENSG00000176142	ENST00000319172	T	0.49432	0.78	5.31	2.57	0.30868	.	0.000000	0.85682	D	0.000000	T	0.60958	0.2309	L	0.61218	1.895	0.80722	D	1	D	0.69078	0.997	D	0.79108	0.992	T	0.57142	-0.7862	10	0.44086	T	0.13	-12.5617	9.8501	0.41051	0.2215:0.0:0.7785:0.0	.	365	Q9NV64	TM39A_HUMAN	R	365	ENSP00000326063:S365R	ENSP00000326063:S365R	S	-	3	2	TMEM39A	120638345	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.895000	0.48648	0.388000	0.25054	-0.143000	0.13931	AGC	TMEM39A	-	pfam_Uncharacterised_TMEM39	ENSG00000176142		0.438	TMEM39A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM39A	HGNC	protein_coding	OTTHUMT00000354941.3		0.00	15	0	G	NM_018266		119155655	-1			no_errors	ENST00000319172	ensembl	human	known	74_37	missense	6.90	54	4	SNP	1.000	T
TNRC6B	23112	genome.wustl.edu	37	22	40661099	40661099	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr22:40661099G>T	ENST00000454349.2	+	5	1076	c.865G>T	c.(865-867)Ggt>Tgt	p.G289C	TNRC6B_ENST00000402203.1_Intron|TNRC6B_ENST00000301923.9_Intron|TNRC6B_ENST00000335727.9_Missense_Mutation_p.G289C	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	289	Interaction with argonaute proteins.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)	1						GAATGTGAGTGGTCAGGATAG	0.463																																																	0													99.0	96.0	97.0					22																	40661099		1911	4130	6041	SO:0001583	missense	0			AB029016	CCDS46712.1, CCDS46713.1, CCDS54533.1	22q13	2006-08-22			ENSG00000100354	ENSG00000100354		"""Trinucleotide (CAG) repeat containing"""	29190	protein-coding gene	gene with protein product		610740					Standard	NM_015088		Approved	KIAA1093	uc011aor.2	Q9UPQ9	OTTHUMG00000151114	ENST00000454349.2:c.865G>T	22.37:g.40661099G>T	ENSP00000401946:p.Gly289Cys		B0QY73|B0QY78|B4DGC0|Q5TH52|Q8TBX2	Missense_Mutation	SNP	pfam_Argonaute_hook_dom,superfamily_UBA-like	p.G289C	ENST00000454349.2	37	c.865	CCDS54533.1	22	.	.	.	.	.	.	.	.	.	.	G	10.94	1.492296	0.26774	.	.	ENSG00000100354	ENST00000454349;ENST00000400140;ENST00000335727	T;T	0.55588	0.51;0.51	5.07	3.0	0.34707	.	0.325380	0.34777	N	0.003687	T	0.56934	0.2019	L	0.29908	0.895	0.35631	D	0.810246	P;D;D	0.89917	0.927;0.999;1.0	P;P;D	0.68353	0.554;0.907;0.957	T	0.65664	-0.6113	10	0.72032	D	0.01	-1.4203	10.5052	0.44830	0.157:0.0:0.843:0.0	.	289;289;289	Q9UPQ9;A8MYY3;Q9UPQ9-1	TNR6B_HUMAN;.;.	C	289	ENSP00000401946:G289C;ENSP00000338371:G289C	ENSP00000338371:G289C	G	+	1	0	TNRC6B	38991045	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.929000	0.56514	0.559000	0.29153	-0.143000	0.13931	GGT	TNRC6B	-	NULL	ENSG00000100354		0.463	TNRC6B-202	KNOWN	basic|CCDS	protein_coding	TNRC6B	HGNC	protein_coding			0.00	11	0	G			40661099	+1			no_errors	ENST00000454349	ensembl	human	known	74_37	missense	10.81	33	4	SNP	1.000	T
TP53	7157	genome.wustl.edu	37	17	7577022	7577022	+	Nonsense_Mutation	SNP	G	G	A	rs121913344		TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr17:7577022G>A	ENST00000269305.4	-	8	1105	c.916C>T	c.(916-918)Cga>Tga	p.R306*	TP53_ENST00000420246.2_Nonsense_Mutation_p.R306*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R306*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R306*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R306*|TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	306	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.		R -> P (in LFS; germline mutation and in a sporadic cancer; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R306*(133)|p.0?(8)|p.?(3)|p.R306fs*39(2)|p.K305fs*1(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)	TGCTTACCTCGCTTAGTGCTC	0.562	R306*(HCC1937_BREAST)|R306*(JURLMK1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(MFE296_ENDOMETRIUM)|R306*(MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(RCM1_LARGE_INTESTINE)	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"""	147	Substitution - Nonsense(133)|Whole gene deletion(8)|Unknown(3)|Deletion - Frameshift(2)|Insertion - Frameshift(1)	large_intestine(39)|breast(21)|upper_aerodigestive_tract(15)|ovary(11)|central_nervous_system(10)|oesophagus(10)|stomach(8)|lung(8)|endometrium(6)|bone(4)|pancreas(3)|haematopoietic_and_lymphoid_tissue(3)|biliary_tract(3)|kidney(2)|NS(2)|urinary_tract(1)|liver(1)	GRCh37	CM971506	TP53	M	rs121913344						120.0	106.0	110.0					17																	7577022		2203	4300	6503	SO:0001587	stop_gained	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.916C>T	17.37:g.7577022G>A	ENSP00000269305:p.Arg306*		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R306*	ENST00000269305.4	37	c.916	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	26.9	4.782988	0.90282	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	.	.	.	5.26	3.21	0.36854	.	1.348720	0.05032	N	0.474808	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.4785	0.44678	0.0:0.0:0.6334:0.3666	.	.	.	.	X	306;306;306;306;306;295;174	.	ENSP00000269305:R306X	R	-	1	2	TP53	7517747	1.000000	0.71417	0.970000	0.41538	0.345000	0.29048	2.280000	0.43443	0.735000	0.32537	0.561000	0.74099	CGA	TP53	-	NULL	ENSG00000141510		0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0.00	30	0	G	NM_000546		7577022	-1	tier1	rs121913344	no_errors	ENST00000269305	ensembl	human	known	74_37	nonsense	46.67	24	21	SNP	1.000	A
TRAIP	10293	genome.wustl.edu	37	3	49869368	49869368	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr3:49869368G>T	ENST00000331456.2	-	11	1131	c.1018C>A	c.(1018-1020)Ctt>Att	p.L340I	TRAIP_ENST00000469027.1_Missense_Mutation_p.L185I	NM_005879.2	NP_005870.2	Q9BWF2	TRAIP_HUMAN	TRAF interacting protein	340	Interaction with CYLD.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|receptor signaling protein activity (GO:0005057)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TCTAGGCAAAGTTTTTCGTAG	0.542																																																	0													114.0	115.0	115.0					3																	49869368		2203	4300	6503	SO:0001583	missense	0			BC019283	CCDS2806.1	3p21.31	2013-01-09			ENSG00000183763	ENSG00000183763		"""RING-type (C3HC4) zinc fingers"""	30764	protein-coding gene	gene with protein product	"""ring finger protein 206"""	605958				9104814	Standard	NM_005879		Approved	TRIP, RNF206	uc003cxs.1	Q9BWF2	OTTHUMG00000158269	ENST00000331456.2:c.1018C>A	3.37:g.49869368G>T	ENSP00000328203:p.Leu340Ile		B5BU84|B5BUL3|O00467	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,superfamily_Prefoldin,smart_Znf_RING,pfscan_Znf_RING	p.L340I	ENST00000331456.2	37	c.1018	CCDS2806.1	3	.	.	.	.	.	.	.	.	.	.	G	7.779	0.709187	0.15239	.	.	ENSG00000183763	ENST00000331456;ENST00000469027	T	0.50813	0.73	5.83	3.94	0.45596	.	0.370667	0.29165	N	0.012947	T	0.30978	0.0782	L	0.34521	1.04	0.21553	N	0.999645	B;B	0.13594	0.008;0.004	B;B	0.09377	0.003;0.004	T	0.14699	-1.0463	10	0.13108	T	0.6	-27.0783	7.9669	0.30104	0.0768:0.0:0.6739:0.2493	.	340;340	A8K807;Q9BWF2	.;TRAIP_HUMAN	I	340;185	ENSP00000420085:L185I	ENSP00000328203:L340I	L	-	1	0	TRAIP	49844372	0.900000	0.30661	0.758000	0.31321	0.042000	0.13812	1.547000	0.36190	1.479000	0.48272	0.655000	0.94253	CTT	TRAIP	-	NULL	ENSG00000183763		0.542	TRAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAIP	HGNC	protein_coding	OTTHUMT00000350518.1		0.00	17	0	G	NM_005879		49869368	-1			no_errors	ENST00000331456	ensembl	human	known	74_37	missense	9.80	46	5	SNP	0.686	T
TRAK2	66008	genome.wustl.edu	37	2	202251000	202251000	+	Missense_Mutation	SNP	G	G	A			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr2:202251000G>A	ENST00000332624.3	-	14	2332	c.1904C>T	c.(1903-1905)tCc>tTc	p.S635F		NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	635					protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|endosome (GO:0005768)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GABA receptor binding (GO:0050811)|receptor binding (GO:0005102)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						TACTGGCTTGGATGTTGAAAG	0.423																																																	0													94.0	87.0	89.0					2																	202251000		2203	4300	6503	SO:0001583	missense	0			AB038951	CCDS2347.1	2q33.1	2012-03-05	2005-12-13	2005-12-13	ENSG00000115993	ENSG00000115993			13206	protein-coding gene	gene with protein product	"""gamma-aminobutyric acid(A) receptor-interacting factor"", ""milton homolog 2 (Drosophila)"", ""O-linked N-acetylglucosamine transferase interacting protein 98"""	607334	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 3"""	ALS2CR3		11161814, 16380713, 20230862	Standard	NM_015049		Approved	CALS-C, KIAA0549, GRIF-1, OIP98, MILT2	uc002uyb.4	O60296	OTTHUMG00000132822	ENST00000332624.3:c.1904C>T	2.37:g.202251000G>A	ENSP00000328875:p.Ser635Phe		E7EV21|Q8WVH7|Q96NS2|Q9C0K5|Q9C0K6	Missense_Mutation	SNP	pfam_HAP1_N,pfam_Traffickng_kinesin-bd_prot_dom	p.S635F	ENST00000332624.3	37	c.1904	CCDS2347.1	2	.	.	.	.	.	.	.	.	.	.	G	7.546	0.661732	0.14645	.	.	ENSG00000115993	ENST00000332624;ENST00000542292	T	0.08008	3.14	4.53	3.66	0.41972	.	0.608394	0.12757	U	0.441668	T	0.07908	0.0198	L	0.40543	1.245	0.27754	N	0.94407	B	0.33448	0.412	B	0.31614	0.133	T	0.19031	-1.0318	10	0.49607	T	0.09	.	8.2941	0.31976	0.0833:0.1566:0.7601:0.0	.	635	O60296	TRAK2_HUMAN	F	635;541	ENSP00000328875:S635F	ENSP00000328875:S635F	S	-	2	0	TRAK2	201959245	0.999000	0.42202	0.227000	0.23927	0.172000	0.22775	5.258000	0.65479	1.140000	0.42260	0.655000	0.94253	TCC	TRAK2	-	NULL	ENSG00000115993		0.423	TRAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAK2	HGNC	protein_coding	OTTHUMT00000256284.3		0.00	9	0	G	NM_015049		202251000	-1			no_errors	ENST00000332624	ensembl	human	known	74_37	missense	6.90	27	2	SNP	0.203	A
TRIML2	205860	genome.wustl.edu	37	4	189013060	189013060	+	Missense_Mutation	SNP	A	A	G			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr4:189013060A>G	ENST00000512729.1	-	7	1005	c.631T>C	c.(631-633)Tgc>Cgc	p.C211R	TRIML2_ENST00000326754.3_Missense_Mutation_p.C236R	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	211	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein ubiquitination (GO:0016567)|response to retinoic acid (GO:0032526)		ligase activity (GO:0016874)			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		AGTGCCAGGCAGGGATGAGCT	0.483																																																	0													79.0	79.0	79.0					4																	189013060		2203	4300	6503	SO:0001583	missense	0			AK098667	CCDS3850.1	4q35.2	2014-02-12	2007-12-14		ENSG00000179046	ENSG00000179046			26378	protein-coding gene	gene with protein product	"""SPRY domain containing 6"""						Standard	NM_173553		Approved	FLJ25801, SPRYD6	uc003izl.2	Q8N7C3	OTTHUMG00000160225	ENST00000512729.1:c.631T>C	4.37:g.189013060A>G	ENSP00000422581:p.Cys211Arg		B7Z6J6	Missense_Mutation	SNP	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin	p.C211R	ENST00000512729.1	37	c.631	CCDS3850.1	4	.	.	.	.	.	.	.	.	.	.	A	10.60	1.394898	0.25205	.	.	ENSG00000179046	ENST00000512729;ENST00000326754	T;T	0.09163	3.6;3.01	5.64	3.25	0.37280	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	0.914965	0.09332	N	0.816709	T	0.10637	0.0260	N	0.19112	0.55	0.09310	N	1	D;D	0.55800	0.973;0.973	P;P	0.53224	0.721;0.721	T	0.25117	-1.0141	10	0.26408	T	0.33	.	3.497	0.07658	0.6619:0.0:0.1727:0.1655	.	236;211	B7ZLC3;Q8N7C3	.;TRIMM_HUMAN	R	211;236	ENSP00000422581:C211R;ENSP00000317498:C236R	ENSP00000317498:C236R	C	-	1	0	TRIML2	189250054	0.000000	0.05858	0.121000	0.21740	0.616000	0.37450	-0.238000	0.08977	1.094000	0.41399	0.533000	0.62120	TGC	TRIML2	-	superfamily_ConA-like_lec_gl_sf,smart_PRY,pfscan_B30.2/SPRY,prints_Butyrophylin	ENSG00000179046		0.483	TRIML2-001	KNOWN	basic|CCDS	protein_coding	TRIML2	HGNC	protein_coding	OTTHUMT00000359733.1	-	0.00	15	0	A	NM_173553		189013060	-1	tier1	-	no_errors	ENST00000512729	ensembl	human	known	74_37	missense	15.79	32	6	SNP	0.006	G
TRPM3	80036	genome.wustl.edu	37	9	73399063	73399063	+	Missense_Mutation	SNP	G	G	A			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr9:73399063G>A	ENST00000377111.2	-	7	1349	c.1106C>T	c.(1105-1107)tCg>tTg	p.S369L	TRPM3_ENST00000377110.3_Missense_Mutation_p.S369L|TRPM3_ENST00000377106.1_Missense_Mutation_p.S241L|TRPM3_ENST00000408909.2_Missense_Mutation_p.S216L|TRPM3_ENST00000423814.3_Missense_Mutation_p.S396L|TRPM3_ENST00000396280.5_Missense_Mutation_p.S216L|TRPM3_ENST00000357533.2_Missense_Mutation_p.S371L|TRPM3_ENST00000361823.5_Missense_Mutation_p.S216L|TRPM3_ENST00000396285.1_Missense_Mutation_p.S216L|TRPM3_ENST00000396283.1_Missense_Mutation_p.S241L|TRPM3_ENST00000360823.2_Missense_Mutation_p.S241L|TRPM3_ENST00000396292.4_Missense_Mutation_p.S241L|TRPM3_ENST00000377105.1_Missense_Mutation_p.S216L|TRPM3_ENST00000358082.3_Missense_Mutation_p.S241L|TRPM3_ENST00000377101.1_Missense_Mutation_p.S216L	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	394					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						CAGGATGTCCGATGCCCGTCC	0.527																																																	0													112.0	98.0	103.0					9																	73399063		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.1106C>T	9.37:g.73399063G>A	ENSP00000366315:p.Ser369Leu		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.S396L	ENST00000377111.2	37	c.1187		9	.	.	.	.	.	.	.	.	.	.	G	27.3	4.819837	0.90873	.	.	ENSG00000083067	ENST00000377111;ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814;ENST00000377101;ENST00000396283;ENST00000361823	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.69806	4.08;4.08;0.48;0.48;4.08;4.08;4.08;4.08;0.48;0.48;0.52;4.08;-0.43;1.64	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.71333	0.3327	L	0.55834	1.745	0.58432	D	0.999999	P;P;P;P;P;P;P;P;P;P	0.51351	0.944;0.469;0.933;0.76;0.938;0.943;0.943;0.938;0.719;0.782	B;B;P;B;B;B;B;B;B;B	0.47603	0.349;0.131;0.551;0.091;0.285;0.349;0.349;0.285;0.203;0.145	T	0.73418	-0.3989	10	0.66056	D	0.02	-24.0923	20.2985	0.98592	0.0:0.0:1.0:0.0	.	394;216;369;369;369;371;241;216;369;216	Q9HCF6;Q504Y1;Q9HCF6-2;Q9HCF6-10;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1;Q9HCF6-8;A2A3F3	TRPM3_HUMAN;.;.;.;.;.;.;.;.;.	L	369;369;241;241;216;371;216;216;241;241;396;216;241;216	ENSP00000366315:S369L;ENSP00000366314:S369L;ENSP00000366310:S241L;ENSP00000354066:S241L;ENSP00000366309:S216L;ENSP00000350140:S371L;ENSP00000386127:S216L;ENSP00000379581:S216L;ENSP00000379587:S241L;ENSP00000350791:S241L;ENSP00000389542:S396L;ENSP00000366305:S216L;ENSP00000379579:S241L;ENSP00000355395:S216L	ENSP00000350140:S371L	S	-	2	0	TRPM3	72588883	1.000000	0.71417	0.944000	0.38274	0.858000	0.48976	9.860000	0.99555	2.793000	0.96121	0.655000	0.94253	TCG	TRPM3	-	NULL	ENSG00000083067		0.527	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	TRPM3	HGNC	protein_coding	OTTHUMT00000214157.5	-	0.00	24	0	G	NM_206945		73399063	-1	tier1	-	no_errors	ENST00000423814	ensembl	human	known	74_37	missense	22.22	35	10	SNP	1.000	A
TTN	7273	genome.wustl.edu	37	2	179585679	179585679	+	Silent	SNP	G	G	A	rs191854953		TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr2:179585679G>A	ENST00000591111.1	-	77	22340	c.22116C>T	c.(22114-22116)gaC>gaT	p.D7372D	TTN_ENST00000460472.2_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Silent_p.D7689D|TTN_ENST00000342992.6_Silent_p.D6445D|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12932	Ig-like 55.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.D6445D(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGCAGCTGGCGTCACCAACAC	0.433													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18623	0.0		0.0	False		,,,				2504	0.0																1	Substitution - coding silent(1)	prostate(1)						G	,,,	0,4110		0,0,2055	70.0	71.0	71.0		,19335,,	-12.3	0.0	2		71	1,8415		0,1,4207	no	intron,coding-synonymous,intron,intron	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	,,,	0,1,6262	AA,AG,GG		0.0119,0.0,0.0080	,,,	,6445/33424,,	179585679	1,12525	2055	4208	6263	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.22116C>T	2.37:g.179585679G>A			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_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.D6445	ENST00000591111.1	37	c.19335		2																																																																																			TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000155657		0.433	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1		0.00	8	0	G	NM_133378		179585679	-1			no_errors	ENST00000342992	ensembl	human	known	74_37	silent	7.32	38	3	SNP	0.120	A
UBE2O	63893	genome.wustl.edu	37	17	74395954	74395954	+	Missense_Mutation	SNP	G	G	A			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr17:74395954G>A	ENST00000319380.7	-	9	1268	c.1204C>T	c.(1204-1206)Cca>Tca	p.P402S	UBE2O_ENST00000587581.1_5'Flank	NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	402					positive regulation of BMP signaling pathway (GO:0030513)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						TGGGTGTCTGGGGAGCATGAC	0.602																																																	0													106.0	108.0	108.0					17																	74395954		2203	4300	6503	SO:0001583	missense	0			AB051521	CCDS32742.1	17q25.1	2013-10-09			ENSG00000175931	ENSG00000175931			29554	protein-coding gene	gene with protein product						11311559, 11214970	Standard	NM_022066		Approved	E2-230K	uc002jrm.4	Q9C0C9	OTTHUMG00000180178	ENST00000319380.7:c.1204C>T	17.37:g.74395954G>A	ENSP00000323687:p.Pro402Ser		A6NDU5|Q69YP4|Q6PIZ2|Q86UA4|Q8N425|Q8TBN1|Q9BSW1|Q9H6E6|Q9H7E4|Q9H9B2	Missense_Mutation	SNP	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.P402S	ENST00000319380.7	37	c.1204	CCDS32742.1	17	.	.	.	.	.	.	.	.	.	.	G	20.4	3.985790	0.74589	.	.	ENSG00000175931	ENST00000319380	T	0.72282	-0.64	5.19	5.19	0.71726	.	0.312468	0.31347	N	0.007808	T	0.58380	0.2118	L	0.40543	1.245	0.36067	D	0.841838	P	0.35011	0.48	B	0.27887	0.084	T	0.62900	-0.6756	10	0.07644	T	0.81	-20.5217	18.7144	0.91670	0.0:0.0:1.0:0.0	.	402	Q9C0C9	UBE2O_HUMAN	S	402	ENSP00000323687:P402S	ENSP00000323687:P402S	P	-	1	0	UBE2O	71907549	1.000000	0.71417	0.998000	0.56505	0.976000	0.68499	3.527000	0.53517	2.423000	0.82170	0.563000	0.77884	CCA	UBE2O	-	NULL	ENSG00000175931		0.602	UBE2O-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE2O	HGNC	protein_coding	OTTHUMT00000450123.1	-	0.00	15	0	G	NM_022066		74395954	-1	tier1	-	no_errors	ENST00000319380	ensembl	human	known	74_37	missense	17.78	37	8	SNP	1.000	A
ULK1	8408	genome.wustl.edu	37	12	132396489	132396489	+	Silent	SNP	C	C	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr12:132396489C>T	ENST00000321867.4	+	13	1302	c.951C>T	c.(949-951)tcC>tcT	p.S317S		NM_003565.2	NP_003556	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	317	Interaction with GABARAP and GABARAPL2.				autophagic vacuole assembly (GO:0000045)|axon extension (GO:0048675)|cellular response to nutrient levels (GO:0031669)|cerebellar granule cell differentiation (GO:0021707)|negative regulation of collateral sprouting (GO:0048671)|neuron projection development (GO:0031175)|neuron projection regeneration (GO:0031102)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|protein autophosphorylation (GO:0046777)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|radial glia guided migration of cerebellar granule cell (GO:0021933)|Ras protein signal transduction (GO:0007265)|receptor internalization (GO:0031623)|regulation of autophagy (GO:0010506)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|response to starvation (GO:0042594)	ATG1/UKL1 signaling complex (GO:0034273)|autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extrinsic component of autophagic vacuole membrane (GO:0097635)|extrinsic component of omegasome membrane (GO:0097629)|extrinsic component of pre-autophagosomal structure membrane (GO:0097632)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)	ATP binding (GO:0005524)|protein complex binding (GO:0032403)|protein serine/threonine kinase activity (GO:0004674)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		ACTCTCAGTCCCTGGGCGAGA	0.637																																																	0													48.0	46.0	47.0					12																	132396489		2203	4297	6500	SO:0001819	synonymous_variant	0			AF045458	CCDS9274.1	12q24.3	2014-02-12	2013-07-02		ENSG00000177169	ENSG00000177169			12558	protein-coding gene	gene with protein product	"""ATG1 autophagy related 1 homolog (S. cerevisiae)"""	603168	"""unc-51 (C. elegans)-like kinase 1"", ""unc-51-like kinase 1 (C. elegans)"""			9693035	Standard	NM_003565		Approved	ATG1, ATG1A	uc001uje.3	O75385	OTTHUMG00000168052	ENST00000321867.4:c.951C>T	12.37:g.132396489C>T			Q9UQ28	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ser/Thr_kinase_C,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kin_STPK_Ulk-1/2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.S317	ENST00000321867.4	37	c.951	CCDS9274.1	12																																																																																			ULK1	-	superfamily_Kinase-like_dom,pirsf_Ser/Thr_kin_STPK_Ulk-1/2	ENSG00000177169		0.637	ULK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ULK1	HGNC	protein_coding	OTTHUMT00000397769.3	-	0.00	19	0	C			132396489	+1	tier1	-	no_errors	ENST00000321867	ensembl	human	known	74_37	silent	24.24	25	8	SNP	1.000	T
UNC13A	23025	genome.wustl.edu	37	19	17720882	17720882	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr19:17720882G>T	ENST00000519716.2	-	43	4677	c.4678C>A	c.(4678-4680)Cag>Aag	p.Q1560K	UNC13A_ENST00000252773.7_Missense_Mutation_p.Q1560K|UNC13A_ENST00000552293.1_Missense_Mutation_p.Q1554K|UNC13A_ENST00000428389.2_Missense_Mutation_p.Q1648K|UNC13A_ENST00000551649.1_Missense_Mutation_p.Q1579K|UNC13A_ENST00000550896.1_Missense_Mutation_p.Q1533K	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	1560	C2 3. {ECO:0000255|PROSITE- ProRule:PRU00041}.				beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						CCAGAAGTCTGCCACTTGAGG	0.502																																																	0													108.0	117.0	114.0					19																	17720882		2160	4288	6448	SO:0001583	missense	0			AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.4678C>A	19.37:g.17720882G>T	ENSP00000429562:p.Gln1560Lys		E5RHY9	Missense_Mutation	SNP	pfam_Munc13_subgr_dom-2,pfam_C2_dom,pfam_Ca-dep_secretion_activator,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.Q1648K	ENST00000519716.2	37	c.4942	CCDS46013.2	19	.	.	.	.	.	.	.	.	.	.	G	15.44	2.834353	0.50951	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	T;T;T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31;-0.31;-0.31	4.13	4.13	0.48395	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.137856	0.49916	U	0.000135	T	0.56093	0.1962	L	0.28649	0.875	0.43787	D	0.996326	B	0.20988	0.05	B	0.25140	0.058	T	0.57154	-0.7860	10	0.51188	T	0.08	-19.4361	13.9527	0.64129	0.0:0.0:1.0:0.0	.	1560	Q9UPW8	UN13A_HUMAN	K	1560;1648;1560;1579;1554;1533	ENSP00000429562:Q1560K;ENSP00000400409:Q1648K;ENSP00000252773:Q1560K;ENSP00000447236:Q1579K;ENSP00000447572:Q1554K;ENSP00000446831:Q1533K	ENSP00000252773:Q1560K	Q	-	1	0	UNC13A	17581882	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.572000	0.67411	1.869000	0.54173	0.478000	0.44815	CAG	UNC13A	-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	ENSG00000130477		0.502	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	UNC13A	HGNC	protein_coding	OTTHUMT00000376169.2	-	0.00	32	0	G	XM_038604		17720882	-1	tier1	-	no_errors	ENST00000428389	ensembl	human	known	74_37	missense	8.00	46	4	SNP	1.000	T
UNC13C	440279	genome.wustl.edu	37	15	54305910	54305910	+	Silent	SNP	C	C	G			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr15:54305910C>G	ENST00000260323.11	+	1	810	c.810C>G	c.(808-810)ctC>ctG	p.L270L	UNC13C_ENST00000545554.1_Silent_p.L270L|UNC13C_ENST00000537900.1_Silent_p.L270L	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	270					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)	p.L270L(2)		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)		TCAATGCTCTCAAGCACTCCA	0.458																																																	2	Substitution - coding silent(2)	breast(2)											98.0	96.0	96.0					15																	54305910		1982	4164	6146	SO:0001819	synonymous_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.810C>G	15.37:g.54305910C>G			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.L270	ENST00000260323.11	37	c.810	CCDS45264.1	15																																																																																			UNC13C	-	NULL	ENSG00000137766		0.458	UNC13C-001	KNOWN	basic|CCDS	protein_coding	UNC13C	HGNC	protein_coding	OTTHUMT00000419028.3	-	0.00	13	0	C	NM_173166		54305910	+1	tier1	-	no_errors	ENST00000260323	ensembl	human	known	74_37	silent	27.27	32	12	SNP	0.992	G
UNC5D	137970	genome.wustl.edu	37	8	35608203	35608203	+	Missense_Mutation	SNP	G	G	A			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr8:35608203G>A	ENST00000404895.2	+	13	2367	c.2039G>A	c.(2038-2040)gGa>gAa	p.G680E	UNC5D_ENST00000416672.1_Missense_Mutation_p.G685E|UNC5D_ENST00000449677.1_Missense_Mutation_p.G256E|UNC5D_ENST00000420357.1_Missense_Mutation_p.G613E|UNC5D_ENST00000453357.2_Missense_Mutation_p.G675E|UNC5D_ENST00000287272.2_Missense_Mutation_p.G611E	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	680					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		GCGCTCACTGGAGAGCCAATC	0.502																																																	0													253.0	210.0	225.0					8																	35608203		2203	4300	6503	SO:0001583	missense	0			AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"""Immunoglobulin superfamily / I-set domain containing"""	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.2039G>A	8.37:g.35608203G>A	ENSP00000385143:p.Gly680Glu		Q8WYP7	Missense_Mutation	SNP	pfam_ZU5,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Death_domain,pfam_Immunoglobulin,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom	p.G680E	ENST00000404895.2	37	c.2039	CCDS6093.2	8	.	.	.	.	.	.	.	.	.	.	G	32	5.171098	0.94807	.	.	ENSG00000156687	ENST00000404895;ENST00000420357;ENST00000287272;ENST00000416672;ENST00000453357;ENST00000449677	T;T;T;T;T;T	0.61980	0.08;0.47;0.44;0.09;0.06;1.9	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	D	0.82300	0.5007	M	0.84219	2.685	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	D	0.83565	0.0109	10	0.87932	D	0	-16.7184	20.2822	0.98520	0.0:0.0:1.0:0.0	.	256;675;680	E9PDS8;Q6UXZ4-2;Q6UXZ4	.;.;UNC5D_HUMAN	E	680;613;611;685;675;256	ENSP00000385143:G680E;ENSP00000392739:G613E;ENSP00000287272:G611E;ENSP00000412652:G685E;ENSP00000394303:G675E;ENSP00000397211:G256E	ENSP00000287272:G611E	G	+	2	0	UNC5D	35727745	1.000000	0.71417	0.990000	0.47175	0.977000	0.68977	9.476000	0.97823	2.806000	0.96561	0.655000	0.94253	GGA	UNC5D	-	NULL	ENSG00000156687		0.502	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	UNC5D	HGNC	protein_coding	OTTHUMT00000347586.2	-	0.00	32	0	G			35608203	+1	tier1	-	no_errors	ENST00000404895	ensembl	human	known	74_37	missense	25.37	50	17	SNP	1.000	A
USP17L10	100287144	genome.wustl.edu	37	4	9213897	9213897	+	Silent	SNP	C	C	G			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr4:9213897C>G	ENST00000417945.1	+	1	1515	c.1515C>G	c.(1513-1515)ctC>ctG	p.L505L	USP17L13_ENST00000421288.2_Intron	NM_001256852.1	NP_001243781.1	C9JJH3	U17LA_HUMAN	ubiquitin specific peptidase 17-like family member 10	505					ubiquitin-dependent protein catabolic process (GO:0006511)	endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)										CTGGCACACTCGCTTCCCTAC	0.537																																																	0																																										SO:0001819	synonymous_variant	0				CCDS59454.1	4p16.1	2014-02-12	2012-10-09		ENSG00000231396	ENSG00000231396			44438	protein-coding gene	gene with protein product							Standard	NM_001256852		Approved		uc031sdg.1	C9JJH3	OTTHUMG00000160160	ENST00000417945.1:c.1515C>G	4.37:g.9213897C>G				Silent	SNP	pfam_Peptidase_C19/C67,pfam_HABP4_PAIRBP1-bd,pfscan_Peptidase_C19/C67	p.L505	ENST00000417945.1	37	c.1515	CCDS59454.1	4																																																																																			USP17L10	-	NULL	ENSG00000231396		0.537	USP17L10-001	NOVEL	basic|appris_principal|CCDS	protein_coding	USP17L10	HGNC	protein_coding	OTTHUMT00000359428.1	-	0.00	20	0	C	NM_001256852		9213897	+1	tier1	-	no_errors	ENST00000417945	ensembl	human	novel	74_37	silent	29.93	96	41	SNP	0.004	G
UXS1	80146	genome.wustl.edu	37	2	106774546	106774546	+	Missense_Mutation	SNP	A	A	C			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr2:106774546A>C	ENST00000409501.3	-	5	301	c.244T>G	c.(244-246)Ttt>Gtt	p.F82V	UXS1_ENST00000479621.1_5'UTR|UXS1_ENST00000283148.7_Missense_Mutation_p.F87V|UXS1_ENST00000428048.2_Intron|UXS1_ENST00000540130.1_Missense_Mutation_p.F25V			Q8NBZ7	UXS1_HUMAN	UDP-glucuronate decarboxylase 1	82					protein tetramerization (GO:0051262)|UDP-D-xylose biosynthetic process (GO:0033320)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	NAD+ binding (GO:0070403)|protein homodimerization activity (GO:0042803)|UDP-glucuronate decarboxylase activity (GO:0048040)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	17						TCTGATAAAAACTTTACTGGT	0.299																																																	0													76.0	68.0	71.0					2																	106774546		1773	4041	5814	SO:0001583	missense	0			AK027244	CCDS46378.1, CCDS58720.1, CCDS58721.1	2q12.2	2012-02-22			ENSG00000115652	ENSG00000115652	4.1.1.35	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	17729	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 6E, member 12"""	609749				19027726	Standard	NM_001253875		Approved	FLJ23591, UGD, SDR6E1	uc002tdn.3	Q8NBZ7	OTTHUMG00000153150	ENST00000409501.3:c.244T>G	2.37:g.106774546A>C	ENSP00000387019:p.Phe82Val		Q8NBX3|Q9H5C2	Missense_Mutation	SNP	pfam_Epimerase_deHydtase,pfam_UXS1_N,pfam_dTDP_dehydrorham_reduct,pfam_Male_sterile_NAD-bd,pfam_3Beta_OHSteriod_DH/Estase	p.F87V	ENST00000409501.3	37	c.259	CCDS46378.1	2	.	.	.	.	.	.	.	.	.	.	A	17.12	3.309472	0.60414	.	.	ENSG00000115652	ENST00000283148;ENST00000540130;ENST00000409501;ENST00000457835	D;D;D;D	0.96011	-3.82;-3.78;-3.83;-3.88	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	D	0.90304	0.6967	N	0.14661	0.345	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.13407	0.009;0.004	D	0.86178	0.1604	10	0.38643	T	0.18	-6.8168	14.6535	0.68814	1.0:0.0:0.0:0.0	.	87;82	Q8NBZ7-2;Q8NBZ7	.;UXS1_HUMAN	V	87;25;82;25	ENSP00000283148:F87V;ENSP00000438265:F25V;ENSP00000387019:F82V;ENSP00000399316:F25V	ENSP00000283148:F87V	F	-	1	0	UXS1	106140978	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.164000	0.77533	2.279000	0.76181	0.533000	0.62120	TTT	UXS1	-	NULL	ENSG00000115652		0.299	UXS1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	UXS1	HGNC	protein_coding	OTTHUMT00000329778.1	-	0.00	12	0	A	NM_025076.3		106774546	-1	tier1	-	no_errors	ENST00000283148	ensembl	human	known	74_37	missense	20.91	87	23	SNP	1.000	C
WASH3P	374666	genome.wustl.edu	37	15	102506230	102506230	+	RNA	SNP	A	A	C			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr15:102506230A>C	ENST00000557932.1	+	0	0							C4AMC7	WASH3_HUMAN	WAS protein family homolog 3 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)			central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						GGGTGGGTGCAGGTGGTCGTG	0.612																																																	0																																												0					15q26.3	2014-03-20	2008-01-16	2008-01-16	ENSG00000185596	ENSG00000185596		"""WAS protein homologs"""	24362	pseudogene	pseudogene			"""family with sequence similarity 39, member D pseudogene"""	FAM39DP		11701968, 18159949	Standard	NR_003659		Approved	FLJ25222	uc002cdi.3	C4AMC7	OTTHUMG00000172275		15.37:g.102506230A>C				RNA	SNP	-	NULL	ENST00000557932.1	37	NULL		15																																																																																			WASH3P	-	-	ENSG00000185596		0.612	WASH3P-001	KNOWN	basic	processed_transcript	WASH3P	HGNC	pseudogene	OTTHUMT00000417608.1	-	0.00	38	0	A	NM_199163		102506230	+1	tier1	-	no_errors	ENST00000558686	ensembl	human	known	74_37	rna	17.89	77	17	SNP	0.001	C
WHAMMP2	440253	genome.wustl.edu	37	15	28991270	28991270	+	RNA	SNP	G	G	A			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr15:28991270G>A	ENST00000512149.2	+	0	0					NR_026589.1				WAS protein homolog associated with actin, golgi membranes and microtubules pseudogene 2																		TATTTAAATTGCAAAAGAGCT	0.323																																																	0																																												0			BC035099		15q13.1	2014-03-20	2011-06-24	2011-06-24	ENSG00000248334	ENSG00000248334			32360	pseudogene	pseudogene			"""WAS protein homology region 2 domain containing 1-like 2 (pseudogene)"", ""WAS protein homolog associated with actin, golgi membranes and microtubules-like 2 (pseudogene)"""	WHDC1L2, WHAMML2			Standard	NR_026589		Approved		uc010uap.2		OTTHUMG00000176340		15.37:g.28991270G>A				RNA	SNP	-	NULL	ENST00000512149.2	37	NULL		15																																																																																			WHAMMP2	-	-	ENSG00000248334		0.323	WHAMMP2-003	PUTATIVE	basic	processed_transcript	WHAMMP2	HGNC	pseudogene	OTTHUMT00000431783.1	-	0.00	30	0	G	NR_026589		28991270	+1	tier1	-	no_errors	ENST00000508764	ensembl	human	putative	74_37	rna	7.75	119	10	SNP	1.000	A
WASH3P	374666	genome.wustl.edu	37	15	102506248	102506248	+	RNA	SNP	G	G	C			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr15:102506248G>C	ENST00000557932.1	+	0	0							C4AMC7	WASH3_HUMAN	WAS protein family homolog 3 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)			central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						GTGGGTGGCTGTGATGCTCCG	0.617																																																	0																																												0					15q26.3	2014-03-20	2008-01-16	2008-01-16	ENSG00000185596	ENSG00000185596		"""WAS protein homologs"""	24362	pseudogene	pseudogene			"""family with sequence similarity 39, member D pseudogene"""	FAM39DP		11701968, 18159949	Standard	NR_003659		Approved	FLJ25222	uc002cdi.3	C4AMC7	OTTHUMG00000172275		15.37:g.102506248G>C				RNA	SNP	-	NULL	ENST00000557932.1	37	NULL		15																																																																																			WASH3P	-	-	ENSG00000185596		0.617	WASH3P-001	KNOWN	basic	processed_transcript	WASH3P	HGNC	pseudogene	OTTHUMT00000417608.1	-	0.00	44	0	G	NM_199163		102506248	+1	tier1	-	no_errors	ENST00000558686	ensembl	human	known	74_37	rna	13.79	100	16	SNP	0.005	C
WNT16	51384	genome.wustl.edu	37	7	120971879	120971879	+	Frame_Shift_Del	DEL	G	G	-			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr7:120971879delG	ENST00000222462.2	+	3	784	c.494delG	c.(493-495)tggfs	p.W165fs	WNT16_ENST00000361301.2_Frame_Shift_Del_p.W155fs	NM_057168.1	NP_476509.1	Q9UBV4	WNT16_HUMAN	wingless-type MMTV integration site family, member 16	165					bone remodeling (GO:0046849)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell fate commitment (GO:0045165)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|negative regulation of cell death (GO:0060548)|neuron differentiation (GO:0030182)|optic cup formation involved in camera-type eye development (GO:0003408)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of gene expression (GO:0010628)|positive regulation of JNK cascade (GO:0046330)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|replicative senescence (GO:0090399)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)	p.C168fs*4(2)|p.G167fs*17(1)		breast(1)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)	18	all_neural(327;0.117)					GGCTGGCACTGGGGGGGCTGC	0.532																																																	3	Insertion - Frameshift(2)|Deletion - Frameshift(1)	ovary(1)|lung(1)|large_intestine(1)											57.0	58.0	58.0					7																	120971879		2203	4300	6503	SO:0001589	frameshift_variant	0			AF152584	CCDS5780.1, CCDS5781.1	7q31	2008-07-18			ENSG00000002745	ENSG00000002745		"""Wingless-type MMTV integration sites"""	16267	protein-coding gene	gene with protein product		606267				10500199	Standard	NM_016087		Approved		uc003vjw.3	Q9UBV4	OTTHUMG00000156963	ENST00000222462.2:c.494delG	7.37:g.120971879delG	ENSP00000222462:p.Trp165fs		Q2M3G1|Q9Y5C0	Frame_Shift_Del	DEL	pfam_Wnt,smart_Wnt,prints_Wnt16,prints_Wnt	p.G167fs	ENST00000222462.2	37	c.494	CCDS5781.1	7																																																																																			WNT16	-	pfam_Wnt,smart_Wnt,prints_Wnt	ENSG00000002745		0.532	WNT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNT16	HGNC	protein_coding	OTTHUMT00000346843.1		0.00	23	0	G	NM_057168		120971879	+1	tier1		no_errors	ENST00000222462	ensembl	human	known	74_37	frame_shift_del	8.57	32	3	DEL	1.000	-
WNT2B	7482	genome.wustl.edu	37	1	113062921	113062921	+	Silent	SNP	C	C	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr1:113062921C>T	ENST00000369684.4	+	5	1451	c.966C>T	c.(964-966)ggC>ggT	p.G322G	WNT2B_ENST00000256640.5_Silent_p.G230G|RP4-671G15.2_ENST00000608357.1_RNA|WNT2B_ENST00000369686.5_Silent_p.G303G	NM_024494.2	NP_078613.1	Q93097	WNT2B_HUMAN	wingless-type MMTV integration site family, member 2B	322					canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cellular response to starvation (GO:0009267)|chondrocyte differentiation (GO:0002062)|cornea development in camera-type eye (GO:0061303)|forebrain regionalization (GO:0021871)|hematopoietic stem cell proliferation (GO:0071425)|iris morphogenesis (GO:0061072)|lens development in camera-type eye (GO:0002088)|lung induction (GO:0060492)|male gonad development (GO:0008584)|mesenchymal-epithelial cell signaling (GO:0060638)|neuron differentiation (GO:0030182)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|stomach(1)	18	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCACTGCAGGCCGTGTCTGCA	0.527																																																	0													97.0	76.0	83.0					1																	113062921		2203	4300	6503	SO:0001819	synonymous_variant	0			AB045116	CCDS847.1, CCDS846.1	1p13	2008-07-18			ENSG00000134245	ENSG00000134245		"""Wingless-type MMTV integration sites"""	12781	protein-coding gene	gene with protein product	"""XWNT2, Xenopus, homolog of"", ""wingless-type MMTV integration site family, member 13"""	601968		WNT13		8761309, 10944466	Standard	NM_024494		Approved	XWNT2	uc001ecb.3	Q93097	OTTHUMG00000011157	ENST00000369684.4:c.966C>T	1.37:g.113062921C>T			O14903|Q5TEH9|Q5TEI2|Q9HDC1|Q9HDC2	Silent	SNP	pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt2	p.G322	ENST00000369684.4	37	c.966	CCDS847.1	1																																																																																			WNT2B	-	pfam_Wnt,smart_Wnt	ENSG00000134245		0.527	WNT2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	WNT2B	HGNC	protein_coding	OTTHUMT00000030692.1		0.00	9	0	C	NM_004185		113062921	+1			no_errors	ENST00000369684	ensembl	human	known	74_37	silent	11.11	32	4	SNP	0.995	T
WWC3	55841	genome.wustl.edu	37	X	10046905	10046905	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chrX:10046905G>T	ENST00000380861.4	+	4	678	c.287G>T	c.(286-288)cGt>cTt	p.R96L	WWC3_ENST00000454666.1_Missense_Mutation_p.R96L	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	96					negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)			NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						ATAGCAAGTCGTCGGGATAGG	0.413																																																	0													113.0	104.0	107.0					X																	10046905		2203	4300	6503	SO:0001583	missense	0			AK091936	CCDS14136.1	Xp22.32	2008-02-05			ENSG00000047644	ENSG00000047644		"""WW, C2 and coiled-coil domain containing"""	29237	protein-coding gene	gene with protein product						10574462	Standard	NM_015691		Approved	KIAA1280, BM042	uc004csx.4	Q9ULE0	OTTHUMG00000021123	ENST00000380861.4:c.287G>T	X.37:g.10046905G>T	ENSP00000370242:p.Arg96Leu		A8KA96|Q659C1|Q9BTQ1	Missense_Mutation	SNP	superfamily_C2_dom	p.R96L	ENST00000380861.4	37	c.287	CCDS14136.1	X	.	.	.	.	.	.	.	.	.	.	G	22.1	4.239150	0.79800	.	.	ENSG00000047644	ENST00000380861;ENST00000454666;ENST00000398613	T;T	0.04917	3.53;3.53	5.35	4.49	0.54785	.	0.000000	0.85682	D	0.000000	T	0.20495	0.0493	M	0.63428	1.95	0.58432	D	0.999995	D	0.76494	0.999	D	0.75020	0.985	T	0.00353	-1.1795	10	0.45353	T	0.12	-13.2111	13.1469	0.59467	0.0809:0.0:0.9191:0.0	.	96	Q9ULE0	WWC3_HUMAN	L	96	ENSP00000370242:R96L;ENSP00000399584:R96L	ENSP00000370242:R96L	R	+	2	0	WWC3	10006905	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.279000	0.89901	1.159000	0.42565	0.600000	0.82982	CGT	WWC3	-	NULL	ENSG00000047644		0.413	WWC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WWC3	HGNC	protein_coding	OTTHUMT00000055725.1		0.00	17	0	G	NM_015691		10046905	+1			no_errors	ENST00000380861	ensembl	human	known	74_37	missense	6.06	62	4	SNP	1.000	T
ZBTB25	7597	genome.wustl.edu	37	14	64957115	64957115	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr14:64957115G>T	ENST00000608382.1	-	2	328	c.137C>A	c.(136-138)tCt>tAt	p.S46Y	ZBTB25_ENST00000555220.1_Missense_Mutation_p.S46Y|ZBTB25_ENST00000555424.1_Missense_Mutation_p.S46Y|ZBTB25_ENST00000394715.1_Missense_Mutation_p.S46Y	NM_006977.2	NP_008908.2	P24278	ZBT25_HUMAN	zinc finger and BTB domain containing 25	46	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				gene expression (GO:0010467)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(2)|skin(2)	10				all cancers(60;0.00865)|OV - Ovarian serous cystadenocarcinoma(108;0.0102)|BRCA - Breast invasive adenocarcinoma(234;0.0469)		GAAATAGTTAGAAAAAGCAGC	0.328																																																	0													66.0	68.0	67.0					14																	64957115		2203	4300	6503	SO:0001583	missense	0			X16576	CCDS9765.1	14q23-q24	2013-01-08	2005-05-22	2005-05-22	ENSG00000089775	ENSG00000089775		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	13112	protein-coding gene	gene with protein product		194541	"""zinc finger protein 46 (KUP)"", ""chromosome 14 open reading frame 51"""	ZNF46, C14orf51			Standard	NM_006977		Approved	KUP	uc001xhf.3	P24278	OTTHUMG00000141310	ENST00000608382.1:c.137C>A	14.37:g.64957115G>T	ENSP00000476746:p.Ser46Tyr		B3KUX6|Q8IYH9	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.S46Y	ENST00000608382.1	37	c.137	CCDS9765.1	14	.	.	.	.	.	.	.	.	.	.	G	25.9	4.685831	0.88639	.	.	ENSG00000089775	ENST00000555220;ENST00000555424;ENST00000261683;ENST00000394715	D;D;D;D	0.85955	-2.05;-2.05;-2.05;-2.05	5.39	5.39	0.77823	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.95765	0.8622	H	0.97940	4.11	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.996	D	0.97145	0.9827	10	0.87932	D	0	-18.4104	19.5016	0.95097	0.0:0.0:1.0:0.0	.	46;46	P24278;G3V2K3	ZBT25_HUMAN;.	Y	46	ENSP00000450718:S46Y;ENSP00000451046:S46Y;ENSP00000261683:S46Y;ENSP00000378204:S46Y	ENSP00000261683:S46Y	S	-	2	0	ZBTB25	64026868	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	9.717000	0.98755	2.693000	0.91896	0.313000	0.20887	TCT	ZBTB25	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	ENSG00000089775		0.328	ZBTB25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB25	HGNC	protein_coding	OTTHUMT00000280649.2		0.00	11	0	G	NM_006977		64957115	-1			no_errors	ENST00000394715	ensembl	human	known	74_37	missense	5.71	33	2	SNP	1.000	T
ZBTB49	166793	genome.wustl.edu	37	4	4303750	4303750	+	Missense_Mutation	SNP	G	G	A			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr4:4303750G>A	ENST00000337872.4	+	3	308	c.187G>A	c.(187-189)Gat>Aat	p.D63N	ZBTB49_ENST00000538529.1_De_novo_Start_OutOfFrame|ZBTB49_ENST00000355834.3_Missense_Mutation_p.D63N	NM_145291.3	NP_660334.3	Q6ZSB9	ZBT49_HUMAN	zinc finger and BTB domain containing 49	63	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						CCAGAAGAATGATGTTTTTCA	0.358																																																	0													82.0	79.0	80.0					4																	4303750		2203	4300	6503	SO:0001583	missense	0			AK095878	CCDS3375.1	4p16.2	2013-01-08	2010-01-26	2010-01-26	ENSG00000168826	ENSG00000168826		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	19883	protein-coding gene	gene with protein product			"""zinc finger protein 509"""	ZNF509		12477932	Standard	NM_145291		Approved	FLJ38559	uc003ghu.3	Q6ZSB9	OTTHUMG00000090325	ENST00000337872.4:c.187G>A	4.37:g.4303750G>A	ENSP00000338807:p.Asp63Asn		Q59FJ4|Q5EBN0|Q8TB80	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.D63N	ENST00000337872.4	37	c.187	CCDS3375.1	4	.	.	.	.	.	.	.	.	.	.	G	33	5.267207	0.95399	.	.	ENSG00000168826	ENST00000355834;ENST00000337872;ENST00000502918	T;T;T	0.66460	-0.21;-0.21;-0.21	5.38	5.38	0.77491	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.64402	D	0.000014	T	0.79375	0.4435	L	0.49126	1.545	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.80238	-0.1465	10	0.72032	D	0.01	.	19.4888	0.95042	0.0:0.0:1.0:0.0	.	63	Q6ZSB9	ZBT49_HUMAN	N	63	ENSP00000348091:D63N;ENSP00000338807:D63N;ENSP00000425747:D63N	ENSP00000338807:D63N	D	+	1	0	ZBTB49	4354651	1.000000	0.71417	0.921000	0.36526	0.794000	0.44872	9.574000	0.98184	2.698000	0.92095	0.585000	0.79938	GAT	ZBTB49	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	ENSG00000168826		0.358	ZBTB49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB49	HGNC	protein_coding	OTTHUMT00000206688.3	-	0.00	12	0	G	NM_145291		4303750	+1	tier1	-	no_errors	ENST00000337872	ensembl	human	known	74_37	missense	26.98	46	17	SNP	1.000	A
ZCRB1	85437	genome.wustl.edu	37	12	42711657	42711657	+	Missense_Mutation	SNP	C	C	A			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr12:42711657C>A	ENST00000266529.3	-	4	340	c.157G>T	c.(157-159)Gtt>Ttt	p.V53F	PPHLN1_ENST00000549190.1_Intron|ZCRB1_ENST00000552673.1_Missense_Mutation_p.V12F	NM_033114.3	NP_149105.3	Q8TBF4	ZCRB1_HUMAN	zinc finger CCHC-type and RNA binding motif 1	53	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	U12-type spliceosomal complex (GO:0005689)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|skin(2)	8	all_cancers(12;0.000348)|Breast(8;0.221)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0689)		ATAAATGCAACCCCTTTACTC	0.333																																																	0													105.0	110.0	108.0					12																	42711657		2203	4299	6502	SO:0001583	missense	0			BC022543	CCDS8740.1	12q12	2013-02-12				ENSG00000139168		"""Zinc fingers, CCHC domain containing"", ""RNA binding motif (RRM) containing"""	29620	protein-coding gene	gene with protein product	"""U11/U12 snRNP 31K"""	610750				15146077, 16959469	Standard	NM_033114		Approved	MADP-1, MADP1, RBM36, ZCCHC19, SNRNP31	uc001rmz.3	Q8TBF4	OTTHUMG00000169382	ENST00000266529.3:c.157G>T	12.37:g.42711657C>A	ENSP00000266529:p.Val53Phe		Q6PJX0|Q96TA6	Missense_Mutation	SNP	pfam_RRM_dom,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_RRM_dom_euk,smart_RRM_dom,smart_Znf_CCHC,pfscan_Znf_CCHC,pfscan_RRM_dom	p.V53F	ENST00000266529.3	37	c.157	CCDS8740.1	12	.	.	.	.	.	.	.	.	.	.	C	19.47	3.834593	0.71373	.	.	ENSG00000139168	ENST00000266529;ENST00000552673;ENST00000552235	T;T;T	0.69685	-0.42;-0.42;-0.42	5.57	5.57	0.84162	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.31389	0.0795	N	0.00202	-1.86	0.80722	D	1	B	0.25441	0.126	B	0.30316	0.114	T	0.54970	-0.8213	10	0.02654	T	1	-13.8382	19.557	0.95354	0.0:1.0:0.0:0.0	.	53	Q8TBF4	ZCRB1_HUMAN	F	53;12;12	ENSP00000266529:V53F;ENSP00000446732:V12F;ENSP00000448780:V12F	ENSP00000266529:V53F	V	-	1	0	ZCRB1	40997924	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.277000	0.78572	2.630000	0.89119	0.655000	0.94253	GTT	ZCRB1	-	pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom	ENSG00000139168		0.333	ZCRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZCRB1	HGNC	protein_coding	OTTHUMT00000403813.1	-	0.00	11	0	C	NM_033114		42711657	-1	tier1	-	no_errors	ENST00000266529	ensembl	human	known	74_37	missense	19.51	33	8	SNP	1.000	A
ZDHHC11	79844	genome.wustl.edu	37	5	712139	712139	+	Intron	SNP	T	T	A	rs111351502	byFrequency	TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr5:712139T>A	ENST00000424784.2	-	14	1931				ZDHHC11B_ENST00000522356.1_5'UTR|ZDHHC11B_ENST00000508859.2_3'UTR			Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11							endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			GCAGCCCATCTTCCTGGAGAT	0.562													t|||	2442	0.48762	0.5522	0.4683	5008	,	,		24038	0.5248		0.4911	False		,,,				2504	0.3722																0																																										SO:0001627	intron_variant	0			AK023215	CCDS3857.1	5p15.2	2011-02-09			ENSG00000188818	ENSG00000188818		"""Zinc fingers, DHHC-type"""	19158	protein-coding gene	gene with protein product							Standard	NM_024786		Approved	ZNF399, FLJ13153	uc011cma.1	Q9H8X9	OTTHUMG00000090319	ENST00000424784.2:c.1237-1140A>T	5.37:g.712139T>A			Q6UWR9	RNA	SNP	-	NULL	ENST00000424784.2	37	NULL	CCDS3857.1	5																																																																																			ZDHHC11B	-	-	ENSG00000206077		0.562	ZDHHC11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDHHC11B	HGNC	protein_coding		-	0.00	14	0	T	NM_024786		712139	-1	tier1	rs111351502	no_errors	ENST00000522356	ensembl	human	known	74_37	rna	25.00	21	7	SNP	0.000	A
ZDHHC19	131540	genome.wustl.edu	37	3	195936290	195936290	+	Missense_Mutation	SNP	G	G	A	rs200834357	byFrequency	TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr3:195936290G>A	ENST00000296326.3	-	3	444	c.365C>T	c.(364-366)cCg>cTg	p.P122L	ZDHHC19_ENST00000488508.1_5'UTR	NM_001039617.1	NP_001034706.1	Q8WVZ1	ZDH19_HUMAN	zinc finger, DHHC-type containing 19	122						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(7)|ovary(3)	14	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.89e-25)|all cancers(36;1.46e-23)|OV - Ovarian serous cystadenocarcinoma(49;2.1e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0022)		AGTCCGGGGCGGGCGGTGGAA	0.657													G|||	8	0.00159744	0.0061	0.0	5008	,	,		6926	0.0		0.0	False		,,,				2504	0.0																0								G	LEU/PRO	7,4129		0,7,2061	40.0	52.0	48.0		365	5.8	1.0	3		48	0,8396		0,0,4198	yes	missense	ZDHHC19	NM_001039617.1	98	0,7,6259	AA,AG,GG		0.0,0.1692,0.0559	probably-damaging	122/310	195936290	7,12525	2068	4198	6266	SO:0001583	missense	0			BC022078	CCDS43190.1	3q29	2008-05-02			ENSG00000163958	ENSG00000163958		"""Zinc fingers, DHHC-type"""	20713	protein-coding gene	gene with protein product							Standard	XR_246038		Approved	MGC33345	uc003fwc.3	Q8WVZ1	OTTHUMG00000133642	ENST00000296326.3:c.365C>T	3.37:g.195936290G>A	ENSP00000296326:p.Pro122Leu		A8MSY6|B3KVI1	Missense_Mutation	SNP	pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase	p.P122L	ENST00000296326.3	37	c.365	CCDS43190.1	3	.	.	.	.	.	.	.	.	.	.	G	28.0	4.878327	0.91740	0.001692	0.0	ENSG00000163958	ENST00000296326	T	0.32753	1.44	5.81	5.81	0.92471	Zinc finger, DHHC-type, palmitoyltransferase (2);	0.121784	0.37761	N	0.001947	T	0.59335	0.2186	M	0.84683	2.71	0.80722	D	1	D	0.76494	0.999	D	0.67103	0.949	T	0.64462	-0.6402	10	0.87932	D	0	-17.4579	15.5735	0.76356	0.0:0.0:1.0:0.0	.	122	Q8WVZ1	ZDH19_HUMAN	L	122	ENSP00000296326:P122L	ENSP00000296326:P122L	P	-	2	0	ZDHHC19	197420687	1.000000	0.71417	0.984000	0.44739	0.985000	0.73830	4.380000	0.59581	2.751000	0.94390	0.555000	0.69702	CCG	ZDHHC19	-	pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase	ENSG00000163958		0.657	ZDHHC19-007	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	ZDHHC19	HGNC	protein_coding	OTTHUMT00000341533.1	-	0.00	44	0	G	NM_144637		195936290	-1	tier1	rs200834357	no_errors	ENST00000296326	ensembl	human	known	74_37	missense	22.77	77	23	SNP	0.997	A
ZFP30	22835	genome.wustl.edu	37	19	38127108	38127108	+	Missense_Mutation	SNP	A	A	C			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr19:38127108A>C	ENST00000351218.2	-	6	891	c.334T>G	c.(334-336)Tgt>Ggt	p.C112G	ZFP30_ENST00000392144.1_Missense_Mutation_p.C112G|ZFP30_ENST00000589018.1_Intron|ZFP30_ENST00000514101.2_Missense_Mutation_p.C112G	NM_014898.2	NP_055713.1	Q9Y2G7	ZFP30_HUMAN	ZFP30 zinc finger protein	112					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	21			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCAAGTCCACAGCTTTTAATT	0.353																																																	0													63.0	62.0	63.0					19																	38127108		2203	4300	6503	SO:0001583	missense	0			AB023178	CCDS33005.1	19q13.13	2013-01-08	2012-11-27		ENSG00000120784	ENSG00000120784		"""Zinc fingers, C2H2-type"", ""-"""	29555	protein-coding gene	gene with protein product			"""zinc finger protein 30 homolog (mouse)"""			10231032	Standard	NM_014898		Approved	ZNF745, KIAA0961	uc002ogx.1	Q9Y2G7	OTTHUMG00000048177	ENST00000351218.2:c.334T>G	19.37:g.38127108A>C	ENSP00000343581:p.Cys112Gly		Q58EY8	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.C112G	ENST00000351218.2	37	c.334	CCDS33005.1	19	.	.	.	.	.	.	.	.	.	.	A	1.780	-0.482245	0.04383	.	.	ENSG00000120784	ENST00000351218;ENST00000514101;ENST00000392144;ENST00000440715	T;T;T	0.05717	3.4;3.4;3.4	3.82	-2.68	0.06041	.	1.515130	0.04481	N	0.377832	T	0.04998	0.0134	L	0.29908	0.895	0.09310	N	1	B;B	0.15141	0.012;0.012	B;B	0.11329	0.006;0.006	T	0.44345	-0.9334	10	0.24483	T	0.36	.	6.0279	0.19665	0.6525:0.1458:0.2017:0.0	.	112;112	D3Y2A0;Q9Y2G7	.;ZFP30_HUMAN	G	112;112;112;111	ENSP00000343581:C112G;ENSP00000422930:C112G;ENSP00000375988:C112G	ENSP00000343581:C112G	C	-	1	0	ZFP30	42818948	0.000000	0.05858	0.000000	0.03702	0.708000	0.40852	0.058000	0.14301	-0.139000	0.11414	0.459000	0.35465	TGT	ZFP30	-	NULL	ENSG00000120784		0.353	ZFP30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP30	HGNC	protein_coding	OTTHUMT00000109601.2	-	0.00	13	0	A	NM_014898		38127108	-1	tier1	-	no_errors	ENST00000351218	ensembl	human	known	74_37	missense	16.28	72	14	SNP	0.000	C
ZNF107	51427	genome.wustl.edu	37	7	64167088	64167088	+	Missense_Mutation	SNP	G	G	A			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr7:64167088G>A	ENST00000395391.1	+	4	1781	c.406G>A	c.(406-408)Gaa>Aaa	p.E136K	ZNF107_ENST00000423627.1_Missense_Mutation_p.E136K|ZNF107_ENST00000344930.3_Missense_Mutation_p.E136K			Q9UII5	ZN107_HUMAN	zinc finger protein 107	136					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				CAAATGTGAAGAATGTGGAAA	0.353																																																	0													27.0	27.0	27.0					7																	64167088		2197	4296	6493	SO:0001583	missense	0			AB027251	CCDS5527.1, CCDS75605.1, CCDS75606.1	7q11.2	2013-01-08	2007-06-26			ENSG00000196247		"""Zinc fingers, C2H2-type"""	12887	protein-coding gene	gene with protein product		603989	"""zinc finger protein 588"", ""zinc finger protein 107 (Y8)"""	ZNF588		8467795	Standard	NM_016220		Approved	ZFD25, smap-7	uc003tte.3	Q9UII5		ENST00000395391.1:c.406G>A	7.37:g.64167088G>A	ENSP00000378789:p.Glu136Lys			Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E136K	ENST00000395391.1	37	c.406	CCDS5527.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	16.87|16.87	3.242315|3.242315	0.58995|0.58995	.|.	.|.	ENSG00000196247|ENSG00000196247	ENST00000541526|ENST00000344930;ENST00000423627;ENST00000395391	.|T;T;T	.|0.07327	.|3.2;3.2;3.2	1.18|1.18	1.18|1.18	0.20946|0.20946	.|Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.|.	.|.	.|.	.|.	.|T	.|0.05731	.|0.0150	N|N	0.17800|0.17800	0.525|0.525	0.09310|0.09310	N|N	1|1	.|P	.|0.35107	.|0.484	.|B	.|0.37267	.|0.245	.|T	.|0.43376	.|-0.9395	.|8	.|.	.|.	.|.	.|.	7.7422|7.7422	0.28848|0.28848	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|136	.|Q9UII5	.|ZN107_HUMAN	.|K	-1|136	.|ENSP00000343443:E136K;ENSP00000400037:E136K;ENSP00000378789:E136K	.|.	.|E	+|+	.|1	.|0	ZNF107|ZNF107	63804523|63804523	0.000000|0.000000	0.05858|0.05858	0.549000|0.549000	0.28204|0.28204	0.811000|0.811000	0.45836|0.45836	-0.083000|-0.083000	0.11286|0.11286	0.567000|0.567000	0.29293|0.29293	0.174000|0.174000	0.16983|0.16983	.|GAA	ZNF107	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196247		0.353	ZNF107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF107	HGNC	protein_coding	OTTHUMT00000251593.1		0.00	11	0	G	NM_016220		64167088	+1			no_errors	ENST00000344930	ensembl	human	known	74_37	missense	8.06	57	5	SNP	0.017	A
ZNF229	7772	genome.wustl.edu	37	19	44932920	44932920	+	Missense_Mutation	SNP	G	G	C			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr19:44932920G>C	ENST00000588931.1	-	6	2469	c.2036C>G	c.(2035-2037)aCg>aGg	p.T679R	ZNF229_ENST00000291187.4_Missense_Mutation_p.T673R|ZNF229_ENST00000591289.1_Intron|CTC-512J12.4_ENST00000588655.1_RNA	NM_014518.2	NP_055333.2	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	679					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				CTTTTTTCCCGTGTGGACTCG	0.512																																																	0													130.0	131.0	131.0					19																	44932920		2116	4257	6373	SO:0001583	missense	0			AF192979	CCDS42574.1, CCDS62706.1	19q13.2	2013-01-08				ENSG00000278318		"""Zinc fingers, C2H2-type"", ""-"""	13022	protein-coding gene	gene with protein product							Standard	XM_006723372		Approved		uc002oze.1	Q9UJW7		ENST00000588931.1:c.2036C>G	19.37:g.44932920G>C	ENSP00000466519:p.Thr679Arg		B2RWN3|Q59FV2|Q86WL9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.T679R	ENST00000588931.1	37	c.2036	CCDS42574.1	19	.	.	.	.	.	.	.	.	.	.	G	28.6	4.937622	0.92458	.	.	ENSG00000167383	ENST00000291187	T	0.19105	2.17	3.82	2.75	0.32379	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42268	0.1195	M	0.68593	2.085	0.35555	D	0.804195	D	0.89917	1.0	D	0.75484	0.986	T	0.54957	-0.8215	9	0.87932	D	0	.	12.0118	0.53291	0.0:0.1767:0.8233:0.0	.	679	Q9UJW7	ZN229_HUMAN	R	679	ENSP00000291187:T679R	ENSP00000291187:T679R	T	-	2	0	ZNF229	49624760	0.713000	0.27926	0.226000	0.23910	0.928000	0.56348	0.916000	0.28651	0.564000	0.29238	0.609000	0.83330	ACG	ZNF229	-	pfscan_Znf_C2H2	ENSG00000167383		0.512	ZNF229-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF229	HGNC	protein_coding	OTTHUMT00000460833.1		0.00	11	0	G	NM_014518		44932920	-1			no_errors	ENST00000588931	ensembl	human	known	74_37	missense	5.88	48	3	SNP	0.997	C
ZNF263	10127	genome.wustl.edu	37	16	3336109	3336109	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr16:3336109G>T	ENST00000219069.5	+	4	1605	c.729G>T	c.(727-729)agG>agT	p.R243S	ZNF263_ENST00000574253.1_Intron|ZNF263_ENST00000573578.1_3'UTR|ZNF263_ENST00000538765.1_Intron	NM_005741.4	NP_005732.2	O14978	ZN263_HUMAN	zinc finger protein 263	243	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(4)|urinary_tract(3)	20						CCCTCTCCAGGGACACGGTGC	0.542																																																	0													169.0	163.0	165.0					16																	3336109		2197	4300	6497	SO:0001583	missense	0			AC004232	CCDS10499.1	16p13.3	2013-01-09			ENSG00000006194	ENSG00000006194		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13056	protein-coding gene	gene with protein product		604191				9256059	Standard	NM_005741		Approved	FPM315, ZKSCAN12, ZSCAN44	uc002cuq.3	O14978	OTTHUMG00000129323	ENST00000219069.5:c.729G>T	16.37:g.3336109G>T	ENSP00000219069:p.Arg243Ser		B2R634|O43387|Q96H95	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.R243S	ENST00000219069.5	37	c.729	CCDS10499.1	16	.	.	.	.	.	.	.	.	.	.	G	15.66	2.899039	0.52227	.	.	ENSG00000006194	ENST00000219069	T	0.02656	4.21	6.07	5.1	0.69264	Krueppel-associated box (4);	0.092424	0.47455	N	0.000221	T	0.07593	0.0191	M	0.86740	2.835	0.80722	D	1	B	0.06786	0.001	B	0.15484	0.013	T	0.02371	-1.1169	10	0.42905	T	0.14	.	12.9012	0.58126	0.0:0.0:0.8382:0.1618	.	243	O14978	ZN263_HUMAN	S	243	ENSP00000219069:R243S	ENSP00000219069:R243S	R	+	3	2	ZNF263	3276110	0.999000	0.42202	1.000000	0.80357	0.999000	0.98932	0.708000	0.25719	1.546000	0.49388	0.655000	0.94253	AGG	ZNF263	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000006194		0.542	ZNF263-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF263	HGNC	protein_coding	OTTHUMT00000251463.2		0.00	14	0	G			3336109	+1			no_errors	ENST00000219069	ensembl	human	known	74_37	missense	6.78	55	4	SNP	1.000	T
ZNF675	171392	genome.wustl.edu	37	19	23836454	23836454	+	Silent	SNP	T	T	C			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr19:23836454T>C	ENST00000359788.4	-	4	1449	c.1281A>G	c.(1279-1281)gaA>gaG	p.E427E	ZNF675_ENST00000601935.1_Intron|ZNF675_ENST00000596211.1_Intron|ZNF675_ENST00000600313.1_Intron	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675	427					bone resorption (GO:0045453)|cytokine-mediated signaling pathway (GO:0019221)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of interleukin-1-mediated signaling pathway (GO:2000660)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	DNA binding (GO:0003677)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				TGCCACATTCTTCACATTTGT	0.378																																																	0													52.0	56.0	55.0					19																	23836454		2202	4298	6500	SO:0001819	synonymous_variant	0				CCDS32981.1	19p12	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	30768	protein-coding gene	gene with protein product	"""TRAF6 inhibitory zinc finger"""					11751921	Standard	NM_138330		Approved	TIZ, TBZF	uc002nri.3	Q8TD23		ENST00000359788.4:c.1281A>G	19.37:g.23836454T>C			Q8N211	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.E427	ENST00000359788.4	37	c.1281	CCDS32981.1	19																																																																																			ZNF675	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197372		0.378	ZNF675-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF675	HGNC	protein_coding	OTTHUMT00000466433.1	-	0.00	11	0	T	NM_138330		23836454	-1	tier1	-	no_errors	ENST00000359788	ensembl	human	known	74_37	silent	18.67	61	14	SNP	0.028	C
ZNF446	55663	genome.wustl.edu	37	19	58991386	58991386	+	Splice_Site	SNP	G	G	A			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr19:58991386G>A	ENST00000594369.1	+	6	1183	c.802G>A	c.(802-804)Gga>Aga	p.G268R	ZNF446_ENST00000335841.4_Splice_Site_p.R239R|ZNF446_ENST00000596341.1_Splice_Site_p.E268K	NM_017908.2	NP_060378.1	Q9NWS9	ZN446_HUMAN	zinc finger protein 446	268					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular space (GO:0005615)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		CCTGCGCTCGGGTGAGTGCCC	0.672																																																	0													9.0	11.0	10.0					19																	58991386		2175	4275	6450	SO:0001630	splice_region_variant	0				CCDS12982.1	19q13.43	2013-01-09				ENSG00000083838		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	21036	protein-coding gene	gene with protein product							Standard	NM_017908		Approved	ZKSCAN20, FLJ20626, ZSCAN52	uc002qsz.3	Q9NWS9		ENST00000594369.1:c.802+1G>A	19.37:g.58991386G>A				Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.G268R	ENST00000594369.1	37	c.802	CCDS12982.1	19	.	.	.	.	.	.	.	.	.	.	G	16.03	3.006409	0.54361	.	.	ENSG00000083838	ENST00000335841;ENST00000540481;ENST00000391694	T	0.06068	3.35	2.93	2.93	0.34026	.	0.877773	0.09301	N	0.821003	T	0.04770	0.0129	N	0.08118	0	0.23030	N	0.998409	D	0.54047	0.964	P	0.47941	0.562	T	0.33599	-0.9862	10	0.14252	T	0.57	-3.7545	9.5654	0.39396	0.0:0.0:1.0:0.0	.	268	Q9NWS9	ZN446_HUMAN	R	268;268;165	ENSP00000336565:G268R	ENSP00000336565:G268R	G	+	1	0	ZNF446	63683198	0.427000	0.25514	0.877000	0.34402	0.160000	0.22226	0.389000	0.20751	1.946000	0.56461	0.655000	0.94253	GGA	ZNF446	-	NULL	ENSG00000083838		0.672	ZNF446-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF446	HGNC	protein_coding	OTTHUMT00000467052.1	-	0.00	35	0	G	NM_017908	Missense_Mutation	58991386	+1	tier1	-	no_errors	ENST00000594369	ensembl	human	known	74_37	missense	17.72	65	14	SNP	0.530	A
ZNF711	7552	genome.wustl.edu	37	X	84502618	84502618	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chrX:84502618G>T	ENST00000373165.3	+	3	346	c.40G>T	c.(40-42)Gac>Tac	p.D14Y	ZNF711_ENST00000395402.1_5'UTR|ZNF711_ENST00000276123.3_Missense_Mutation_p.D14Y|ZNF711_ENST00000360700.4_Missense_Mutation_p.D14Y	NM_021998.4	NP_068838.3	Q9Y462	ZN711_HUMAN	zinc finger protein 711	14					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						GCACACGCCAGACTCTAGAAT	0.333																																																	0													144.0	131.0	135.0					X																	84502618		2203	4300	6503	SO:0001583	missense	0			BC006349	CCDS35344.1	Xq21.1	2014-02-19	2006-06-29	2006-06-29	ENSG00000147180	ENSG00000147180		"""Zinc fingers, C2H2-type"""	13128	protein-coding gene	gene with protein product		314990	"""zinc finger protein 6 (CMPX1)"", ""zinc finger protein 6"""	ZNF6		19377476	Standard	XM_005262186		Approved	CMPX1, ZNF4, ZNF5, dJ75N13.1, Zfp711, MRX97	uc004eeo.3	Q9Y462	OTTHUMG00000021933	ENST00000373165.3:c.40G>T	X.37:g.84502618G>T	ENSP00000362260:p.Asp14Tyr		B4DSV4|Q6NX42|Q9Y4J6	Missense_Mutation	SNP	pfam_Transcrp_activ_Zfx/Zfy-dom,pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D14Y	ENST00000373165.3	37	c.40	CCDS35344.1	X	.	.	.	.	.	.	.	.	.	.	g	14.67	2.605579	0.46527	.	.	ENSG00000147180	ENST00000373165;ENST00000276123;ENST00000360700	T;T;T	0.08282	3.11;3.11;3.16	4.64	3.78	0.43462	.	0.460130	0.15273	U	0.271098	T	0.07638	0.0192	N	0.22421	0.69	0.80722	D	1	P;P	0.41848	0.763;0.454	B;B	0.40228	0.323;0.133	T	0.27571	-1.0070	10	0.72032	D	0.01	-0.9315	12.0307	0.53396	0.0868:0.0:0.9132:0.0	.	14;14	Q9Y462-3;Q9Y462	.;ZN711_HUMAN	Y	14	ENSP00000362260:D14Y;ENSP00000276123:D14Y;ENSP00000353922:D14Y	ENSP00000276123:D14Y	D	+	1	0	ZNF711	84389274	1.000000	0.71417	0.999000	0.59377	0.961000	0.63080	7.251000	0.78297	0.872000	0.35775	0.509000	0.49947	GAC	ZNF711	-	NULL	ENSG00000147180		0.333	ZNF711-001	KNOWN	basic|CCDS	protein_coding	ZNF711	HGNC	protein_coding	OTTHUMT00000057388.2		0.00	16	0	G	NM_021998		84502618	+1			no_errors	ENST00000276123	ensembl	human	known	74_37	missense	5.33	71	4	SNP	1.000	T
ZNF853	54753	genome.wustl.edu	37	7	6662290	6662290	+	Silent	SNP	C	C	T	rs531562975	byFrequency	TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr7:6662290C>T	ENST00000457543.3	+	3	2226	c.1668C>T	c.(1666-1668)ctC>ctT	p.L556L		NM_017560.1	NP_060030.1	P0CG23	ZN853_HUMAN	zinc finger protein 853	556							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(1)|kidney(1)	2						GCTCGGCGCTCGTGCAGCACC	0.677													C|||	7	0.00139776	0.0053	0.0	5008	,	,		7357	0.0		0.0	False		,,,				2504	0.0																0													12.0	17.0	16.0					7																	6662290		690	1587	2277	SO:0001819	synonymous_variant	0			AL133055	CCDS59048.1	7p22.1	2013-01-08				ENSG00000236609		"""Zinc fingers, C2H2-type"""	21767	protein-coding gene	gene with protein product							Standard	NM_017560		Approved	DKFZp434J1015	uc011jwz.2	P0CG23		ENST00000457543.3:c.1668C>T	7.37:g.6662290C>T				Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L556	ENST00000457543.3	37	c.1668	CCDS59048.1	7																																																																																			ZNF853	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000236609		0.677	ZNF853-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF853	HGNC	protein_coding	OTTHUMT00000324169.2	-	0.00	10	0	C	NM_017560		6662290	+1	tier1	-	no_errors	ENST00000457543	ensembl	human	known	74_37	silent	15.22	39	7	SNP	0.215	T
ZXDA	7789	genome.wustl.edu	37	X	57935854	57935854	+	Missense_Mutation	SNP	G	G	A			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chrX:57935854G>A	ENST00000358697.4	-	1	1213	c.1001C>T	c.(1000-1002)gCg>gTg	p.A334V		NM_007156.4	NP_009087.1	P98168	ZXDA_HUMAN	zinc finger, X-linked, duplicated A	334	Required for interaction with ZXDC.				positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A334V(1)		breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1)	37						ACAGCCCTCCGCAGGGCAGCC	0.597																																																	1	Substitution - Missense(1)	endometrium(1)											38.0	37.0	37.0					X																	57935854		2203	4300	6503	SO:0001583	missense	0			L14787	CCDS14376.1	Xp11.21	2013-01-08			ENSG00000198205	ENSG00000198205		"""Zinc fingers, C2H2-type"""	13198	protein-coding gene	gene with protein product	"""zinc finger protein 896"""	300235				8268913	Standard	NM_007156		Approved	ZNF896	uc004dve.3	P98168	OTTHUMG00000021688	ENST00000358697.4:c.1001C>T	X.37:g.57935854G>A	ENSP00000351530:p.Ala334Val		Q9UJP7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A334V	ENST00000358697.4	37	c.1001	CCDS14376.1	X	.	.	.	.	.	.	.	.	.	.	.	0.003	-2.428522	0.00184	.	.	ENSG00000198205	ENST00000358697	T	0.32753	1.44	3.34	-0.608	0.11611	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.398244	0.27345	N	0.019784	T	0.09598	0.0236	N	0.02391	-0.57	0.09310	N	1	B	0.12630	0.006	B	0.11329	0.006	T	0.33497	-0.9866	9	.	.	.	.	7.5226	0.27637	0.6488:0.0:0.3512:0.0	.	334	P98168	ZXDA_HUMAN	V	334	ENSP00000351530:A334V	.	A	-	2	0	ZXDA	57952579	0.000000	0.05858	0.000000	0.03702	0.368000	0.29767	-0.389000	0.07342	-0.293000	0.08986	0.415000	0.27848	GCG	ZXDA	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198205		0.597	ZXDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZXDA	HGNC	protein_coding	OTTHUMT00000056925.1	-	0.00	12	0	G	NM_007156		57935854	-1	tier1	-	no_errors	ENST00000358697	ensembl	human	known	74_37	missense	56.00	22	28	SNP	0.000	A
