#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ACSM5	54988	genome.wustl.edu	37	16	20442562	20442562	+	Silent	SNP	C	C	T	rs78006992	byFrequency	TCGA-BH-A42T-01A-11D-A243-09	TCGA-BH-A42T-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d13900dd-7b11-4eda-80be-39432a8ef6fd	183475fd-fef3-42f3-aeb4-594394187c24	g.chr16:20442562C>T	ENST00000331849.4	+	10	1374	c.1227C>T	c.(1225-1227)aaC>aaT	p.N409N		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	409					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)	p.N409N(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						ATGAGGGCAACGTCCTGCCTC	0.557																																						dbGAP											1	Substitution - coding silent(1)	kidney(1)											157.0	135.0	142.0					16																	20442562		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS10585.1	16p12.3	2007-10-17			ENSG00000183549	ENSG00000183549		"""Acyl-CoA synthetase family"""	26060	protein-coding gene	gene with protein product		614361				17762044	Standard	NM_017888		Approved	FLJ20581	uc002dhe.3	Q6NUN0	OTTHUMG00000131551	ENST00000331849.4:c.1227C>T	16.37:g.20442562C>T			Q96AV1|Q96CX8|Q9NWV3	Silent	SNP	pfam_AMP-dep_Synth/Lig	p.N409	ENST00000331849.4	37	c.1227	CCDS10585.1	16																																																																																			ACSM5	-	pfam_AMP-dep_Synth/Lig	ENSG00000183549		0.557	ACSM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSM5	HGNC	protein_coding	OTTHUMT00000254413.1	30	0.00	0	C	NM_017888		20442562	20442562	+1	no_errors	ENST00000331849	ensembl	human	known	69_37n	silent	63	10.00	7	SNP	0.043	T
CCDC18	343099	genome.wustl.edu	37	1	93698055	93698055	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A42T-01A-11D-A243-09	TCGA-BH-A42T-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d13900dd-7b11-4eda-80be-39432a8ef6fd	183475fd-fef3-42f3-aeb4-594394187c24	g.chr1:93698055C>A	ENST00000343253.7	+	18	2864	c.2362C>A	c.(2362-2364)Cta>Ata	p.L788I	CCDC18_ENST00000401026.3_Missense_Mutation_p.L789I|CCDC18_ENST00000338949.4_Missense_Mutation_p.L544I|CCDC18_ENST00000334652.5_Missense_Mutation_p.L84I|CCDC18_ENST00000421014.2_3'UTR|CCDC18_ENST00000557479.1_Missense_Mutation_p.L907I			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	788										breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		AAACGTTATTCTACAGCATAC	0.323																																						dbGAP											0													106.0	101.0	103.0					1																	93698055		1840	4098	5938	-	-	-	SO:0001583	missense	0					1p22.1	2008-02-05			ENSG00000122483	ENSG00000122483			30370	protein-coding gene	gene with protein product						12601173	Standard	XM_006710609		Approved	NY-SAR-41	uc021opx.1	Q5T9S5	OTTHUMG00000010598	ENST00000343253.7:c.2362C>A	1.37:g.93698055C>A	ENSP00000343377:p.Leu788Ile		Q6ZU17	Missense_Mutation	SNP	superfamily_Prefoldin,superfamily_tRNA-bd_arm	p.L907I	ENST00000343253.7	37	c.2719		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.08|15.08	2.728395|2.728395	0.48833|0.48833	.|.	.|.	ENSG00000122483|ENSG00000122483	ENST00000370276|ENST00000343253;ENST00000401026;ENST00000557479;ENST00000338949;ENST00000334652;ENST00000455267	.|.	.|.	.|.	5.71|5.71	3.57|3.57	0.40892|0.40892	.|.	.|0.089556	.|0.47455	.|D	.|0.000231	T|T	0.39489|0.39489	0.1080|0.1080	L|L	0.53249|0.53249	1.67|1.67	0.40865|0.40865	D|D	0.983869|0.983869	.|P;P	.|0.51351	.|0.944;0.944	.|P;P	.|0.50617	.|0.646;0.646	T|T	0.36648|0.36648	-0.9739|-0.9739	5|9	.|0.42905	.|T	.|0.14	.|.	6.3854|6.3854	0.21558|0.21558	0.1631:0.6717:0.0:0.1652|0.1631:0.6717:0.0:0.1652	.|.	.|788;907	.|Q5T9S5;G3V388	.|CCD18_HUMAN;.	L|I	841|788;789;907;544;84;464	.|.	.|ENSP00000334084:L84I	F|L	+|+	3|1	2|2	CCDC18|CCDC18	93470643|93470643	0.825000|0.825000	0.29262|0.29262	0.476000|0.476000	0.27291|0.27291	0.242000|0.242000	0.25591|0.25591	1.474000|1.474000	0.35398|0.35398	1.378000|1.378000	0.46305|0.46305	0.563000|0.563000	0.77884|0.77884	TTC|CTA	CCDC18	-	NULL	ENSG00000122483		0.323	CCDC18-008	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	CCDC18	HGNC	protein_coding	OTTHUMT00000382327.1	23	0.00	0	C	NM_206886		93698055	93698055	+1	no_errors	ENST00000557479	ensembl	human	known	69_37n	missense	26	13.33	4	SNP	0.554	A
ARID4B	51742	genome.wustl.edu	37	1	235345310	235345310	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A42T-01A-11D-A243-09	TCGA-BH-A42T-10A-01D-A243-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d13900dd-7b11-4eda-80be-39432a8ef6fd	183475fd-fef3-42f3-aeb4-594394187c24	g.chr1:235345310T>C	ENST00000264183.3	-	20	3421	c.2924A>G	c.(2923-2925)gAg>gGg	p.E975G	ARID4B_ENST00000494543.1_5'Flank|ARID4B_ENST00000349213.3_Missense_Mutation_p.E889G|ARID4B_ENST00000366603.2_Missense_Mutation_p.E975G	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	975					histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			ACAACTCTCCTCTTCAGCCAC	0.493																																						dbGAP											0													107.0	111.0	109.0					1																	235345310		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF214114	CCDS31060.1, CCDS31061.1	1q42.1-q43	2013-02-07	2006-11-08	2004-01-30	ENSG00000054267	ENSG00000054267		"""-"""	15550	protein-coding gene	gene with protein product		609696	"""retinoblastoma binding protein 1-like 1"", ""AT rich interactive domain 4B (RBP1- like)"""	RBP1L1		11481388	Standard	NM_016374		Approved	BCAA, BRCAA1, SAP180	uc001hwq.3	Q4LE39	OTTHUMG00000039621	ENST00000264183.3:c.2924A>G	1.37:g.235345310T>C	ENSP00000264183:p.Glu975Gly		A1L465|Q3MHV4|Q5HY99|Q5T2C2|Q5T2C3|Q5T2C4|Q5T2C5|Q5T2C6|Q6P600|Q86UX1|Q86WR4|Q9H915|Q9NYU3|Q9NZB6|Q9NZG4|Q9P2W4|Q9UF62|Q9Y6E1	Missense_Mutation	SNP	pfam_RBB1NT,pfam_ARID/BRIGHT_DNA-bd,pfam_Tudor-knot,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Chromodomain-like,smart_Tudor,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.E975G	ENST00000264183.3	37	c.2924	CCDS31061.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.36|10.36	1.329515|1.329515	0.24167|0.24167	.|.	.|.	ENSG00000054267|ENSG00000054267	ENST00000391856;ENST00000349213;ENST00000366603;ENST00000264183|ENST00000444620	T;T;T|.	0.27104|.	1.69;1.71;1.71|.	5.1|5.1	3.98|3.98	0.46160|0.46160	.|.	0.125209|.	0.52532|.	N|.	0.000072|.	T|T	0.32526|0.32526	0.0832|0.0832	N|N	0.14661|0.14661	0.345|0.345	0.34181|0.34181	D|D	0.67094|0.67094	D;D;D;D|.	0.89917|.	1.0;0.996;0.996;0.993|.	D;D;D;D|.	0.80764|.	0.994;0.986;0.974;0.968|.	T|T	0.41910|0.41910	-0.9482|-0.9482	10|5	0.66056|.	D|.	0.02|.	-14.5396|-14.5396	9.4314|9.4314	0.38612|0.38612	0.0:0.0802:0.0:0.9198|0.0:0.0802:0.0:0.9198	.|.	656;975;889;975|.	Q4LE39-4;Q4LE39-3;Q4LE39-2;Q4LE39|.	.;.;.;ARI4B_HUMAN|.	G|G	975;889;975;975|375	ENSP00000264184:E889G;ENSP00000355562:E975G;ENSP00000264183:E975G|.	ENSP00000264183:E975G|.	E|R	-|-	2|1	0|2	ARID4B|ARID4B	233411933|233411933	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.015000|0.015000	0.08874|0.08874	5.286000|5.286000	0.65639|0.65639	0.977000|0.977000	0.38444|0.38444	-0.334000|-0.334000	0.08254|0.08254	GAG|AGG	ARID4B	-	NULL	ENSG00000054267		0.493	ARID4B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID4B	HGNC	protein_coding	OTTHUMT00000095566.3	75	0.00	0	T	NM_016374		235345310	235345310	-1	no_errors	ENST00000264183	ensembl	human	known	69_37n	missense	74	43.94	58	SNP	1.000	C
CCDC97	90324	genome.wustl.edu	37	19	41822503	41822503	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A42T-01A-11D-A243-09	TCGA-BH-A42T-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d13900dd-7b11-4eda-80be-39432a8ef6fd	183475fd-fef3-42f3-aeb4-594394187c24	g.chr19:41822503G>T	ENST00000269967.3	+	2	383	c.261G>T	c.(259-261)ttG>ttT	p.L87F		NM_052848.1	NP_443080.1	Q96F63	CCD97_HUMAN	coiled-coil domain containing 97	87										biliary_tract(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	17						AACCCGACTTGACAGAGCATG	0.617																																						dbGAP											0													67.0	59.0	61.0					19																	41822503		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC011577	CCDS12578.1	19q13.2	2008-02-05							28289	protein-coding gene	gene with protein product						12477932	Standard	NM_052848		Approved	FLJ40267, MGC20255	uc002oqg.3	Q96F63		ENST00000269967.3:c.261G>T	19.37:g.41822503G>T	ENSP00000269967:p.Leu87Phe		Q658N6|Q96IF3	Missense_Mutation	SNP	pfam_DUF2052_coiled-coil	p.L87F	ENST00000269967.3	37	c.261	CCDS12578.1	19	.	.	.	.	.	.	.	.	.	.	G	6.259	0.415951	0.11870	.	.	ENSG00000142039	ENST00000269967	.	.	.	4.66	2.14	0.27477	.	0.097775	0.42548	D	0.000693	T	0.41166	0.1147	L	0.28556	0.865	0.46927	D	0.999255	B	0.17852	0.024	B	0.15052	0.012	T	0.24404	-1.0161	9	0.36615	T	0.2	-13.2247	9.0655	0.36460	0.0:0.3654:0.5059:0.1287	.	87	Q96F63	CCD97_HUMAN	F	87	.	ENSP00000269967:L87F	L	+	3	2	CCDC97	46514343	0.999000	0.42202	0.971000	0.41717	0.014000	0.08584	0.380000	0.20602	0.906000	0.36621	0.557000	0.71058	TTG	CCDC97	-	NULL	ENSG00000142039		0.617	CCDC97-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC97	HGNC	protein_coding	OTTHUMT00000463293.1	10	0.00	0	G	NM_052848		41822503	41822503	+1	no_errors	ENST00000269967	ensembl	human	known	69_37n	missense	19	32.14	9	SNP	0.998	T
CDYL	9425	genome.wustl.edu	37	6	4943862	4943862	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A42T-01A-11D-A243-09	TCGA-BH-A42T-10A-01D-A243-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d13900dd-7b11-4eda-80be-39432a8ef6fd	183475fd-fef3-42f3-aeb4-594394187c24	g.chr6:4943862A>G	ENST00000328908.5	+	7	1497	c.1366A>G	c.(1366-1368)Ata>Gta	p.I456V	CDYL_ENST00000472453.1_3'UTR|CDYL_ENST00000397588.3_Missense_Mutation_p.I402V|CDYL_ENST00000449732.2_Missense_Mutation_p.I270V|CDYL_ENST00000343762.5_Missense_Mutation_p.I270V			Q9Y232	CDYL1_HUMAN	chromodomain protein, Y-like	456					regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|methylated histone binding (GO:0035064)|transcription corepressor activity (GO:0003714)			breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1)	30	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		AGGAGCATCTATATTGCCTCT	0.403																																						dbGAP											0													139.0	137.0	138.0					6																	4943862		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF081258	CCDS4491.2, CCDS47364.1	6p25.1	2010-05-04	2003-09-12		ENSG00000153046	ENSG00000153046			1811	protein-coding gene	gene with protein product	"""CDY-like, autosomal"", ""testis-specific chromodomain Y-like protein"""	603778	"""chromodomain protein, Y chromosome-like"""			10192397	Standard	NM_001143970		Approved	DKFZP586C1622, CDYL1	uc003mwj.3	Q9Y232	OTTHUMG00000014170	ENST00000328908.5:c.1366A>G	6.37:g.4943862A>G	ENSP00000330512:p.Ile456Val		A8K6D6|B4DLG4|Q0VDG7|Q32NC5|Q5VX99|Q6P7T5|Q9BWZ2|Q9Y424	Missense_Mutation	SNP	pfam_Crotonase_core,pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow	p.I456V	ENST00000328908.5	37	c.1366		6	.	.	.	.	.	.	.	.	.	.	A	14.18	2.458206	0.43634	.	.	ENSG00000153046	ENST00000328908;ENST00000397588;ENST00000449732;ENST00000343762	T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11	5.63	5.63	0.86233	Crotonase, core (1);	0.046813	0.85682	D	0.000000	T	0.44664	0.1304	L	0.41124	1.26	0.58432	D	0.999994	B;B	0.27700	0.154;0.186	B;B	0.32583	0.091;0.148	T	0.51252	-0.8729	10	0.52906	T	0.07	.	15.0231	0.71647	1.0:0.0:0.0:0.0	.	402;456	Q9Y232-2;Q9Y232	.;CDYL1_HUMAN	V	456;402;270;270	ENSP00000330512:I456V;ENSP00000380718:I402V;ENSP00000394076:I270V;ENSP00000340908:I270V	ENSP00000330512:I456V	I	+	1	0	CDYL	4888861	1.000000	0.71417	0.945000	0.38365	0.876000	0.50452	4.600000	0.61083	2.137000	0.66172	0.533000	0.62120	ATA	CDYL	-	pfam_Crotonase_core	ENSG00000153046		0.403	CDYL-001	KNOWN	basic	protein_coding	CDYL	HGNC	protein_coding	OTTHUMT00000039736.1	37	0.00	0	A	NM_004824		4943862	4943862	+1	no_errors	ENST00000328908	ensembl	human	known	69_37n	missense	32	34.69	17	SNP	1.000	G
FER	2241	genome.wustl.edu	37	5	108294990	108294990	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A42T-01A-11D-A243-09	TCGA-BH-A42T-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d13900dd-7b11-4eda-80be-39432a8ef6fd	183475fd-fef3-42f3-aeb4-594394187c24	g.chr5:108294990C>A	ENST00000281092.4	+	13	1982	c.1598C>A	c.(1597-1599)aCa>aAa	p.T533K	FER_ENST00000438717.2_Missense_Mutation_p.T358K|FER_ENST00000536402.1_3'UTR	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	533	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				actin cytoskeleton reorganization (GO:0031532)|cell proliferation (GO:0008283)|cell-cell adhesion mediated by cadherin (GO:0044331)|cellular response to insulin stimulus (GO:0032869)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to reactive oxygen species (GO:0034614)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|diapedesis (GO:0050904)|extracellular matrix-cell signaling (GO:0035426)|Fc-epsilon receptor signaling pathway (GO:0038095)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular signal transduction (GO:0035556)|Kit signaling pathway (GO:0038109)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of mast cell activation involved in immune response (GO:0033007)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of fibroblast migration (GO:0010762)|regulation of lamellipodium assembly (GO:0010591)|regulation of protein phosphorylation (GO:0001932)|response to lipopolysaccharide (GO:0032496)|response to platelet-derived growth factor (GO:0036119)|substrate adhesion-dependent cell spreading (GO:0034446)|tyrosine phosphorylation of Stat3 protein (GO:0042503)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|nucleus (GO:0005634)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|lipid binding (GO:0008289)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		CATCACTATACAACAAAACAG	0.353																																					Colon(146;1051 1799 9836 27344 47401)	dbGAP											0													137.0	131.0	133.0					5																	108294990		2202	4298	6500	-	-	-	SO:0001583	missense	0			J03358	CCDS4098.1	5q21	2013-02-14	2008-02-07		ENSG00000151422	ENSG00000151422	2.7.10.1	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""SH2 domain containing"""	3655	protein-coding gene	gene with protein product	"""phosphoprotein NCP94"", ""protein phosphatase 1, regulatory subunit 74"""	176942					Standard	NM_005246		Approved	TYK3, PPP1R74	uc003kop.1	P16591	OTTHUMG00000128751	ENST00000281092.4:c.1598C>A	5.37:g.108294990C>A	ENSP00000281092:p.Thr533Lys		B2RCR4|B4DSQ2|H2FLB8	Missense_Mutation	SNP	pirsf_Tyr_kinase_non-rcpt_Fes_subgr,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_FCH,superfamily_Kinase-like_dom,smart_FCH,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_FCH,pfscan_SH2,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.T533K	ENST00000281092.4	37	c.1598	CCDS4098.1	5	.	.	.	.	.	.	.	.	.	.	C	8.913	0.959218	0.18507	.	.	ENSG00000151422	ENST00000281092;ENST00000438717	T;T	0.62232	0.04;0.04	6.07	5.19	0.71726	SH2 motif (4);	0.141833	0.64402	D	0.000005	T	0.39200	0.1069	N	0.04787	-0.16	0.47819	D	0.999524	B	0.21821	0.061	B	0.23275	0.045	T	0.37033	-0.9723	10	0.05833	T	0.94	-7.4435	16.3571	0.83239	0.1367:0.8633:0.0:0.0	.	533	P16591	FER_HUMAN	K	533;358	ENSP00000281092:T533K;ENSP00000394297:T358K	ENSP00000281092:T533K	T	+	2	0	FER	108322889	1.000000	0.71417	0.997000	0.53966	0.938000	0.57974	4.622000	0.61240	1.515000	0.48885	0.655000	0.94253	ACA	FER	-	pirsf_Tyr_kinase_non-rcpt_Fes_subgr,smart_SH2,pfscan_SH2,prints_SH2	ENSG00000151422		0.353	FER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FER	HGNC	protein_coding	OTTHUMT00000250664.1	20	0.00	0	C	NM_005246		108294990	108294990	+1	no_errors	ENST00000281092	ensembl	human	known	69_37n	missense	27	27.03	10	SNP	1.000	A
HECW2	57520	genome.wustl.edu	37	2	197298078	197298078	+	Missense_Mutation	SNP	T	T	A			TCGA-BH-A42T-01A-11D-A243-09	TCGA-BH-A42T-10A-01D-A243-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d13900dd-7b11-4eda-80be-39432a8ef6fd	183475fd-fef3-42f3-aeb4-594394187c24	g.chr2:197298078T>A	ENST00000260983.3	-	2	252	c.70A>T	c.(70-72)Agc>Tgc	p.S24C		NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	24					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						TTCTCTGGGCTCAATGTGTAC	0.597																																						dbGAP											0													82.0	72.0	76.0					2																	197298078		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.70A>T	2.37:g.197298078T>A	ENSP00000260983:p.Ser24Cys		B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP	pfam_HECT,pfam_WW_Rsp5_WWP,pfam_C2_Ca-dep,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_C2_membr_targeting,pfscan_WW_Rsp5_WWP	p.S24C	ENST00000260983.3	37	c.70	CCDS33354.1	2	.	.	.	.	.	.	.	.	.	.	T	23.1	4.374409	0.82573	.	.	ENSG00000138411	ENST00000260983;ENST00000452031;ENST00000427457	T;T;T	0.36157	1.27;1.27;1.27	5.27	5.27	0.74061	.	0.154816	0.64402	D	0.000018	T	0.51449	0.1675	L	0.57536	1.79	0.48135	D	0.999599	D	0.71674	0.998	P	0.57324	0.818	T	0.55347	-0.8155	10	0.87932	D	0	.	15.3484	0.74363	0.0:0.0:0.0:1.0	.	24	Q9P2P5	HECW2_HUMAN	C	24	ENSP00000260983:S24C;ENSP00000409918:S24C;ENSP00000395770:S24C	ENSP00000260983:S24C	S	-	1	0	HECW2	197006323	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	3.082000	0.50128	2.209000	0.71365	0.459000	0.35465	AGC	HECW2	-	NULL	ENSG00000138411		0.597	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HECW2	HGNC	protein_coding	OTTHUMT00000335199.3	39	0.00	0	T	NM_020760		197298078	197298078	-1	no_errors	ENST00000260983	ensembl	human	known	69_37n	missense	35	33.96	18	SNP	1.000	A
HELB	92797	genome.wustl.edu	37	12	66698653	66698653	+	Silent	SNP	G	G	A	rs531762590		TCGA-BH-A42T-01A-11D-A243-09	TCGA-BH-A42T-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d13900dd-7b11-4eda-80be-39432a8ef6fd	183475fd-fef3-42f3-aeb4-594394187c24	g.chr12:66698653G>A	ENST00000247815.4	+	2	389	c.330G>A	c.(328-330)ccG>ccA	p.P110P		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	110					DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication, synthesis of RNA primer (GO:0006269)		ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|single-stranded DNA-dependent ATP-dependent DNA helicase activity (GO:0017116)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		AAGGATTTCCGTCTTACTTTT	0.403																																						dbGAP											0													172.0	162.0	165.0					12																	66698653		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF319995	CCDS8976.1	12q14.2	2009-01-15			ENSG00000127311	ENSG00000127311			17196	protein-coding gene	gene with protein product		614539				12181327	Standard	NM_033647		Approved		uc001sti.3	Q8NG08	OTTHUMG00000169006	ENST00000247815.4:c.330G>A	12.37:g.66698653G>A			A8K4C9|Q4G0T2|Q9H7L5	Silent	SNP	NULL	p.P110	ENST00000247815.4	37	c.330	CCDS8976.1	12																																																																																			HELB	-	NULL	ENSG00000127311		0.403	HELB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HELB	HGNC	protein_coding	OTTHUMT00000401919.1	46	0.00	0	G			66698653	66698653	+1	no_errors	ENST00000247815	ensembl	human	known	69_37n	silent	41	24.07	13	SNP	0.053	A
IGF1R	3480	genome.wustl.edu	37	15	99500587	99500587	+	Silent	SNP	C	C	T			TCGA-BH-A42T-01A-11D-A243-09	TCGA-BH-A42T-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d13900dd-7b11-4eda-80be-39432a8ef6fd	183475fd-fef3-42f3-aeb4-594394187c24	g.chr15:99500587C>T	ENST00000268035.6	+	21	4631	c.4020C>T	c.(4018-4020)ttC>ttT	p.F1340F	IGF1R_ENST00000558762.1_Silent_p.F1339F|RP11-654A16.3_ENST00000559468.1_RNA	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	1340					axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""""""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	GCGCCAGCTTCGACGAGAGAC	0.667																																						dbGAP											0													34.0	39.0	37.0					15																	99500587		2197	4297	6494	-	-	-	SO:0001819	synonymous_variant	0			M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"""CD molecules"", ""Fibronectin type III domain containing"""	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.4020C>T	15.37:g.99500587C>T			B1B5Y2|Q14CV2|Q9UCC0	Silent	SNP	pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom	p.F1340	ENST00000268035.6	37	c.4020	CCDS10378.1	15																																																																																			IGF1R	-	pirsf_Tyr_kinase_insulin-like_rcpt	ENSG00000140443		0.667	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	IGF1R	HGNC	protein_coding	OTTHUMT00000313537.2	39	0.00	0	C	NM_000875		99500587	99500587	+1	no_errors	ENST00000268035	ensembl	human	known	69_37n	silent	31	40.38	21	SNP	0.990	T
KIAA0226L	80183	genome.wustl.edu	37	13	46946584	46946584	+	Silent	SNP	C	C	T			TCGA-BH-A42T-01A-11D-A243-09	TCGA-BH-A42T-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d13900dd-7b11-4eda-80be-39432a8ef6fd	183475fd-fef3-42f3-aeb4-594394187c24	g.chr13:46946584C>T	ENST00000429979.1	-	3	631	c.27G>A	c.(25-27)caG>caA	p.Q9Q	KIAA0226L_ENST00000480935.1_Intron|KIAA0226L_ENST00000378787.3_Silent_p.Q9Q|KIAA0226L_ENST00000378781.3_Silent_p.Q9Q|KIAA0226L_ENST00000409879.2_Intron|RNU2-6P_ENST00000411404.1_RNA|KIAA0226L_ENST00000322896.6_Intron|KIAA0226L_ENST00000378797.2_Silent_p.Q9Q|KIAA0226L_ENST00000389908.3_Silent_p.Q9Q|KIAA0226L_ENST00000534925.1_Intron|KIAA0226L_ENST00000378784.4_Intron	NM_025113.2	NP_079389.2	Q9H714	K226L_HUMAN	KIAA0226-like	9										NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						CAGGAGAATCCTGCCTGACTG	0.493																																						dbGAP											0													28.0	24.0	25.0					13																	46946584		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK025215	CCDS31970.2, CCDS66543.1, CCDS66544.1, CCDS66545.1, CCDS73569.1	13q14.11	2011-08-09	2011-08-09	2011-08-09	ENSG00000102445	ENSG00000102445			20420	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 18"""	C13orf18			Standard	NM_001286766		Approved	FLJ21562	uc010acl.3	Q9H714	OTTHUMG00000016868	ENST00000429979.1:c.27G>A	13.37:g.46946584C>T			A8KAG9|A8XR19|B3KS87|Q5W051|Q5W053|Q6PJ74|Q6PK94|Q86XH7|Q8N5J6	Silent	SNP	NULL	p.Q9	ENST00000429979.1	37	c.27	CCDS31970.2	13																																																																																			KIAA0226L	-	NULL	ENSG00000102445		0.493	KIAA0226L-204	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0226L	HGNC	protein_coding	OTTHUMT00000044809.2	41	0.00	0	C	NM_025113		46946584	46946584	-1	no_errors	ENST00000389908	ensembl	human	known	69_37n	silent	36	34.55	19	SNP	0.037	T
KIF21B	23046	genome.wustl.edu	37	1	200977992	200977992	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A42T-01A-11D-A243-09	TCGA-BH-A42T-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d13900dd-7b11-4eda-80be-39432a8ef6fd	183475fd-fef3-42f3-aeb4-594394187c24	g.chr1:200977992C>T	ENST00000422435.2	-	3	668	c.352G>A	c.(352-354)Gca>Aca	p.A118T	KIF21B_ENST00000360529.5_Missense_Mutation_p.A118T|KIF21B_ENST00000461742.2_Missense_Mutation_p.A118T|KIF21B_ENST00000332129.2_Missense_Mutation_p.A118T	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	118	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.A118T(2)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						AAGAGGTGTGCGATGGCCCTC	0.627																																						dbGAP											2	Substitution - Missense(2)	large_intestine(1)|prostate(1)											100.0	92.0	95.0					1																	200977992		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"""Kinesins"", ""WD repeat domain containing"""	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.352G>A	1.37:g.200977992C>T	ENSP00000411831:p.Ala118Thr		B2RP62|B7ZMI0|Q5T4J3	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Prefoldin,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom	p.A118T	ENST00000422435.2	37	c.352	CCDS58056.1	1	.	.	.	.	.	.	.	.	.	.	C	11.80	1.747799	0.30955	.	.	ENSG00000116852	ENST00000332129;ENST00000360529;ENST00000461742;ENST00000422435;ENST00000539858	T;T;T;T	0.75050	-0.9;-0.9;-0.9;-0.9	5.57	2.68	0.31781	Kinesin, motor domain (4);	0.257714	0.38663	N	0.001609	T	0.43523	0.1251	N	0.04655	-0.195	0.09310	N	1	B;B;B;B	0.23990	0.095;0.095;0.004;0.077	B;B;B;B	0.16289	0.015;0.015;0.003;0.009	T	0.17837	-1.0356	10	0.26408	T	0.33	.	2.0444	0.03557	0.2446:0.4551:0.119:0.1813	.	118;118;118;118	B7ZMI0;B2RP62;O75037;O75037-2	.;.;KI21B_HUMAN;.	T	118	ENSP00000328494:A118T;ENSP00000353724:A118T;ENSP00000433808:A118T;ENSP00000411831:A118T	ENSP00000328494:A118T	A	-	1	0	KIF21B	199244615	0.002000	0.14202	0.654000	0.29608	0.960000	0.62799	0.884000	0.28214	0.305000	0.22832	-0.175000	0.13238	GCA	KIF21B	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	ENSG00000116852		0.627	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIF21B	HGNC	protein_coding	OTTHUMT00000382635.1	26	0.00	0	C	XM_371332		200977992	200977992	-1	no_errors	ENST00000422435	ensembl	human	known	69_37n	missense	45	34.78	24	SNP	0.013	T
LOXL4	84171	genome.wustl.edu	37	10	100021813	100021813	+	Silent	SNP	G	G	A			TCGA-BH-A42T-01A-11D-A243-09	TCGA-BH-A42T-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d13900dd-7b11-4eda-80be-39432a8ef6fd	183475fd-fef3-42f3-aeb4-594394187c24	g.chr10:100021813G>A	ENST00000260702.3	-	3	585	c.435C>T	c.(433-435)gtC>gtT	p.V145V		NM_032211.6	NP_115587.6	Q96JB6	LOXL4_HUMAN	lysyl oxidase-like 4	145						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|receptor complex (GO:0043235)	copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(8)|ovary(4)|prostate(1)|skin(2)	26		Colorectal(252;0.234)		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)		GGGCATTGGAGACAGTTTCAG	0.602																																						dbGAP											0													35.0	34.0	35.0					10																	100021813		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF338441	CCDS7473.1	10q24	2008-08-01			ENSG00000138131	ENSG00000138131			17171	protein-coding gene	gene with protein product		607318				11292829	Standard	XM_005270216		Approved	FLJ21889, LOXC	uc001kpa.1	Q96JB6	OTTHUMG00000018874	ENST00000260702.3:c.435C>T	10.37:g.100021813G>A			Q5W0B3|Q96DY1|Q96PC0|Q9H6T5	Silent	SNP	pfam_Lysyl_oxidase,pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Lysyl_oxidase,prints_Srcr_rcpt	p.V145	ENST00000260702.3	37	c.435	CCDS7473.1	10																																																																																			LOXL4	-	NULL	ENSG00000138131		0.602	LOXL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOXL4	HGNC	protein_coding	OTTHUMT00000049766.1	15	0.00	0	G	NM_032211		100021813	100021813	-1	no_errors	ENST00000260702	ensembl	human	known	69_37n	silent	14	36.36	8	SNP	0.067	A
LTV1	84946	genome.wustl.edu	37	6	144178937	144178937	+	Silent	SNP	G	G	A			TCGA-BH-A42T-01A-11D-A243-09	TCGA-BH-A42T-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d13900dd-7b11-4eda-80be-39432a8ef6fd	183475fd-fef3-42f3-aeb4-594394187c24	g.chr6:144178937G>A	ENST00000367576.5	+	6	722	c.588G>A	c.(586-588)gaG>gaA	p.E196E		NM_032860.3	NP_116249.2	Q96GA3	LTV1_HUMAN	LTV1 ribosome biogenesis factor	196	Asp-rich.					cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(155;2.72e-06)|GBM - Glioblastoma multiforme(68;0.0372)		TGGATGATGAGAAGGGAGATA	0.403																																						dbGAP											0													140.0	122.0	128.0					6																	144178937		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC009855	CCDS5201.1	6q24.2	2014-02-03	2014-02-03	2006-02-06	ENSG00000135521	ENSG00000135521			21173	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 93"", ""LTV1 homolog (S. cerevisiae)"""	C6orf93			Standard	NM_032860		Approved	FLJ14909, dJ468K18.4	uc003qjs.3	Q96GA3	OTTHUMG00000015733	ENST00000367576.5:c.588G>A	6.37:g.144178937G>A			Q96JX8	Silent	SNP	pfam_LTV	p.E196	ENST00000367576.5	37	c.588	CCDS5201.1	6																																																																																			LTV1	-	pfam_LTV	ENSG00000135521		0.403	LTV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LTV1	HGNC	protein_coding	OTTHUMT00000042532.1	56	0.00	0	G	NM_032860		144178937	144178937	+1	no_errors	ENST00000367576	ensembl	human	known	69_37n	silent	47	25.40	16	SNP	0.002	A
MIR7-3HG	284424	genome.wustl.edu	37	19	4772449	4772449	+	lincRNA	SNP	C	C	T	rs2885717	byFrequency	TCGA-BH-A42T-01A-11D-A243-09	TCGA-BH-A42T-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d13900dd-7b11-4eda-80be-39432a8ef6fd	183475fd-fef3-42f3-aeb4-594394187c24	g.chr19:4772449C>T	ENST00000586721.1	+	0	783				MIR7-3_ENST00000384898.1_RNA			Q8N6C7	PGSF1_HUMAN	MIR7-3 host gene (non-protein coding)																		ctgctgtgtccccagcgcctg	0.423													C|||	2245	0.448283	0.2209	0.5288	5008	,	,		18634	0.6746		0.4314	False		,,,				2504	0.4826					dbGAP											0																																										-	-	-			0			AB058892		19p13.3	2014-03-17	2011-09-01	2011-09-01	ENSG00000176840	ENSG00000176840		"""Long non-coding RNAs"""	30049	non-coding RNA	RNA, long non-coding	"""pituitary gland specific factor 1a"", ""pituitary gland specific factor 1b"""		"""chromosome 19 open reading frame 30"", ""non-protein coding RNA 306"", ""long intergenic non-protein coding RNA 306"""	C19orf30, NCRNA00306, LINC00306		11854097	Standard	NR_027148		Approved	PGSF1, PGSF1a, PGSF1b, Huh7, uc002mbe.2	uc010xii.2	Q8N6C7	OTTHUMG00000150589		19.37:g.4772449C>T			D6W630|Q17RJ9|Q8N6C6	RNA	SNP	-	NULL	ENST00000586721.1	37	NULL		19																																																																																			MIR7-3HG	-	-	ENSG00000176840		0.423	MIR7-3HG-002	KNOWN	basic	lincRNA	MIR7-3HG	HGNC	lincRNA	OTTHUMT00000459345.1	30	0.00	0	C	NR_027148		4772449	4772449	+1	no_errors	ENST00000588711	ensembl	human	known	69_37n	rna	35	10.26	4	SNP	0.001	T
MOCS1	4337	genome.wustl.edu	37	6	39874404	39874404	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A42T-01A-11D-A243-09	TCGA-BH-A42T-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d13900dd-7b11-4eda-80be-39432a8ef6fd	183475fd-fef3-42f3-aeb4-594394187c24	g.chr6:39874404G>A	ENST00000340692.5	-	11	1643	c.1640C>T	c.(1639-1641)aCc>aTc	p.T547I	MOCS1_ENST00000373186.4_3'UTR|MOCS1_ENST00000308559.7_Missense_Mutation_p.T531I|MOCS1_ENST00000373175.4_3'UTR|MOCS1_ENST00000373195.3_Missense_Mutation_p.T444I|MOCS1_ENST00000425303.2_Missense_Mutation_p.T547I|MOCS1_ENST00000373188.2_3'UTR			Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis 1	547	Molybdenum cofactor biosynthesis protein C.				Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|molybdopterin synthase complex (GO:0019008)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|cyclic pyranopterin monophosphate synthase activity (GO:0061597)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21	Ovarian(28;0.0355)|Colorectal(47;0.196)					CAGCTGGCTGGTCACCTTGGC	0.617																																					NSCLC(84;861 1413 23785 24908 42279)|Melanoma(182;611 2047 9114 11847 26639)	dbGAP											0													38.0	40.0	40.0					6																	39874404		2203	4299	6502	-	-	-	SO:0001583	missense	0			AJ224328	CCDS4846.1, CCDS43460.1	6p21.2	2012-05-08			ENSG00000124615	ENSG00000124615			7190	protein-coding gene	gene with protein product		603707				9731530, 10053004	Standard	NM_001075098		Approved	MOCOD	uc003opb.3	Q9NZB8	OTTHUMG00000014656	ENST00000340692.5:c.1640C>T	6.37:g.39874404G>A	ENSP00000344794:p.Thr547Ile		B3KPT7|B4DTP1|O14940|O14941|O75710|Q5J7W0|Q5TCE1|Q5TCE2|Q5TCE6|Q5TCE9|Q5TCF0|Q5TCF1|Q8N418|Q9NZB7|Q9UEM1	Missense_Mutation	SNP	pfam_Mopterin_CF_biosynth-C_dom,pfam_Mob_synth_C,pfam_rSAM,superfamily_Mopterin_CF_biosynth-C_dom,smart_Elp3/MiaB/NifB,tigrfam_MoaA,tigrfam_Mo_CF_biosynth-C	p.T547I	ENST00000340692.5	37	c.1640		6	.	.	.	.	.	.	.	.	.	.	G	26.2	4.716586	0.89205	.	.	ENSG00000124615	ENST00000308559;ENST00000373195;ENST00000340692;ENST00000425303	T;T;T;T	0.60299	0.24;0.35;0.22;0.2	5.41	5.41	0.78517	Molybdopterin cofactor biosynthesis C (MoaC) domain (3);	0.000000	0.85682	D	0.000000	T	0.74839	0.3769	.	.	.	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	T	0.78406	-0.2216	9	0.87932	D	0	-37.6108	18.7885	0.91964	0.0:0.0:1.0:0.0	.	531;547;547	Q9NZB8-2;Q9NZB8;Q9NZB8-8	.;MOCS1_HUMAN;.	I	531;444;547;547	ENSP00000309843:T531I;ENSP00000362291:T444I;ENSP00000344794:T547I;ENSP00000416478:T547I	ENSP00000309843:T531I	T	-	2	0	MOCS1	39982382	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.566000	0.98157	2.527000	0.85204	0.563000	0.77884	ACC	MOCS1	-	pfam_Mopterin_CF_biosynth-C_dom,superfamily_Mopterin_CF_biosynth-C_dom,tigrfam_Mo_CF_biosynth-C	ENSG00000124615		0.617	MOCS1-005	KNOWN	basic|appris_candidate_longest	protein_coding	MOCS1	HGNC	protein_coding	OTTHUMT00000040476.2	33	0.00	0	G	NM_005943		39874404	39874404	-1	no_errors	ENST00000340692	ensembl	human	known	69_37n	missense	26	43.48	20	SNP	1.000	A
MXRA7	439921	genome.wustl.edu	37	17	74684401	74684401	+	Intron	SNP	T	T	C	rs2286587	byFrequency	TCGA-BH-A42T-01A-11D-A243-09	TCGA-BH-A42T-10A-01D-A243-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d13900dd-7b11-4eda-80be-39432a8ef6fd	183475fd-fef3-42f3-aeb4-594394187c24	g.chr17:74684401T>C	ENST00000355797.3	-	2	351				MXRA7_ENST00000592148.1_Missense_Mutation_p.H110R|MXRA7_ENST00000375036.2_Intron|MXRA7_ENST00000585519.1_Intron|MXRA7_ENST00000589082.1_Intron|MXRA7_ENST00000588114.1_Intron|MXRA7_ENST00000449428.2_Intron	NM_001008528.1	NP_001008528.1	P84157	MXRA7_HUMAN	matrix-remodelling associated 7							integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(2)|skin(1)	6						CCTGTGGTCATGGTCAACCAG	0.627													T|||	1286	0.256789	0.1899	0.3646	5008	,	,		18000	0.1498		0.3419	False		,,,				2504	0.2935					dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			BC053983	CCDS32745.1, CCDS32746.1, CCDS45786.1	17q25.1	2007-08-01				ENSG00000182534			7541	protein-coding gene	gene with protein product							Standard	XM_005257382		Approved	FLJ46603, TMAP1, PS1TP1	uc002jsk.1	P84157		ENST00000355797.3:c.343-143A>G	17.37:g.74684401T>C			Q0P5W3	Missense_Mutation	SNP	NULL	p.H110R	ENST00000355797.3	37	c.329	CCDS32745.1	17																																																																																			MXRA7	-	NULL	ENSG00000182534		0.627	MXRA7-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MXRA7	HGNC	protein_coding	OTTHUMT00000450983.1	33	0.00	0	T	NM_001008529		74684401	74684401	-1	no_errors	ENST00000592148	ensembl	human	putative	69_37n	missense	32	11.11	4	SNP	0.000	C
NRXN3	9369	genome.wustl.edu	37	14	80328015	80328015	+	Missense_Mutation	SNP	C	C	T	rs531408967		TCGA-BH-A42T-01A-11D-A243-09	TCGA-BH-A42T-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d13900dd-7b11-4eda-80be-39432a8ef6fd	183475fd-fef3-42f3-aeb4-594394187c24	g.chr14:80328015C>T	ENST00000557594.1	+	6	2575	c.1622C>T	c.(1621-1623)aCg>aTg	p.T541M	NRXN3_ENST00000556003.1_3'UTR|NRXN3_ENST00000554719.1_Missense_Mutation_p.T965M|NRXN3_ENST00000281127.7_Missense_Mutation_p.T336M|NRXN3_ENST00000335750.5_Missense_Mutation_p.T965M|NRXN3_ENST00000428277.2_Missense_Mutation_p.T363M	NM_001272020.1	NP_001258949.1	Q9HDB5	NRX3B_HUMAN	neurexin 3	541					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)		GCAAACCCCACGGAGCCGGGA	0.597																																						dbGAP											0													33.0	37.0	36.0					14																	80328015		2203	4300	6503	-	-	-	SO:0001583	missense	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.1622C>T	14.37:g.80328015C>T	ENSP00000451672:p.Thr541Met		A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Missense_Mutation	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,smart_EGF-like,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G	p.T965M	ENST00000557594.1	37	c.2894		14	.	.	.	.	.	.	.	.	.	.	C	16.09	3.024949	0.54683	.	.	ENSG00000021645	ENST00000330071;ENST00000554719;ENST00000335750;ENST00000557594;ENST00000281127;ENST00000428277	T;T;T;T;T	0.71222	-0.55;-0.55;0.88;1.2;1.01	6.12	6.12	0.99158	.	0.000000	0.85682	D	0.000000	D	0.85053	0.5609	M	0.76574	2.34	0.45634	D	0.998562	D;D;D;P	0.89917	0.988;0.99;1.0;0.921	P;P;D;P	0.87578	0.724;0.621;0.998;0.463	T	0.83031	-0.0162	9	.	.	.	.	20.8403	0.99726	0.0:1.0:0.0:0.0	.	363;336;541;965	Q9HDB5-4;Q9HDB5-2;Q9HDB5;Q9Y4C0-3	.;.;NRX3B_HUMAN;.	M	1547;965;965;541;336;363	ENSP00000451648:T965M;ENSP00000338349:T965M;ENSP00000451672:T541M;ENSP00000281127:T336M;ENSP00000394426:T363M	.	T	+	2	0	NRXN3	79397768	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.815000	0.86186	2.932000	0.99384	0.644000	0.83932	ACG	NRXN3	-	NULL	ENSG00000021645		0.597	NRXN3-004	NOVEL	basic	protein_coding	NRXN3	HGNC	protein_coding	OTTHUMT00000413790.1	14	0.00	0	C	NM_001105250		80328015	80328015	+1	no_errors	ENST00000335750	ensembl	human	known	69_37n	missense	8	55.56	10	SNP	1.000	T
PABPC4L	132430	genome.wustl.edu	37	4	135121318	135121318	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A42T-01A-11D-A243-09	TCGA-BH-A42T-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d13900dd-7b11-4eda-80be-39432a8ef6fd	183475fd-fef3-42f3-aeb4-594394187c24	g.chr4:135121318C>T	ENST00000421491.3	-	2	1113	c.857G>A	c.(856-858)cGa>cAa	p.R286Q	PABPC4L_ENST00000529122.2_Missense_Mutation_p.R344Q			P0CB38	PAB4L_HUMAN	poly(A) binding protein, cytoplasmic 4-like	286							nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|endometrium(2)	3						CCCACGAATTCGTTCCCTTTT	0.423																																						dbGAP											0													134.0	117.0	123.0					4																	135121318		692	1591	2283	-	-	-	SO:0001583	missense	0			AY672099		4q28.3	2013-02-12				ENSG00000254535		"""RNA binding motif (RRM) containing"""	31955	protein-coding gene	gene with protein product							Standard	NM_001114734		Approved		uc010ioe.3	P0CB38		ENST00000421491.3:c.857G>A	4.37:g.135121318C>T	ENSP00000463233:p.Arg286Gln			Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom,tigrfam_PABP_1234	p.R344Q	ENST00000421491.3	37	c.1031		4																																																																																			PABPC4L	-	tigrfam_PABP_1234	ENSG00000254535		0.423	PABPC4L-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	PABPC4L	HGNC	protein_coding	OTTHUMT00000364399.2	33	0.00	0	C	NM_001114734		135121318	135121318	-1	no_errors	ENST00000529122	ensembl	human	known	69_37n	missense	41	31.67	19	SNP	0.721	T
PIK3CA	5290	genome.wustl.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-BH-A42T-01A-11D-A243-09	TCGA-BH-A42T-10A-01D-A243-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d13900dd-7b11-4eda-80be-39432a8ef6fd	183475fd-fef3-42f3-aeb4-594394187c24	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	1582	Substitution - Missense(1582)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)											99.0	89.0	92.0					3																	178952085		1912	4130	6042	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3140A>G	3.37:g.178952085A>G	ENSP00000263967:p.His1047Arg		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.H1047R	ENST00000263967.3	37	c.3140	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	A	14.34	2.506328	0.44558	.	.	ENSG00000121879	ENST00000263967	T	0.80214	-1.35	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.62466	0.2430	N	0.08118	0	0.80722	D	1	P	0.38597	0.639	B	0.28011	0.085	T	0.67526	-0.5648	10	0.40728	T	0.16	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	R	1047	ENSP00000263967:H1047R	ENSP00000263967:H1047R	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT	PIK3CA	-	superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000121879		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	18	0.00	0	A			178952085	178952085	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	10	56.52	13	SNP	1.000	G
PLEC	5339	genome.wustl.edu	37	8	145001204	145001204	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A42T-01A-11D-A243-09	TCGA-BH-A42T-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d13900dd-7b11-4eda-80be-39432a8ef6fd	183475fd-fef3-42f3-aeb4-594394187c24	g.chr8:145001204C>A	ENST00000322810.4	-	29	4466	c.4297G>T	c.(4297-4299)Gtg>Ttg	p.V1433L	PLEC_ENST00000398774.2_Missense_Mutation_p.V1264L|PLEC_ENST00000436759.2_Missense_Mutation_p.V1323L|PLEC_ENST00000354589.3_Missense_Mutation_p.V1296L|PLEC_ENST00000354958.2_Missense_Mutation_p.V1274L|PLEC_ENST00000357649.2_Missense_Mutation_p.V1300L|PLEC_ENST00000345136.3_Missense_Mutation_p.V1296L|PLEC_ENST00000527096.1_Missense_Mutation_p.V1319L|PLEC_ENST00000356346.3_Missense_Mutation_p.V1282L	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1433	Globular 1.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GGGGAGGCCACCGGCTCAAGC	0.647																																						dbGAP											0													60.0	66.0	64.0					8																	145001204		2087	4222	6309	-	-	-	SO:0001583	missense	0			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.4297G>T	8.37:g.145001204C>A	ENSP00000323856:p.Val1433Leu		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain	p.V1433L	ENST00000322810.4	37	c.4297	CCDS43772.1	8	.	.	.	.	.	.	.	.	.	.	C	13.48	2.249888	0.39797	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.29397	1.57;1.57;1.57;1.57;1.57;1.57;1.57;1.57;1.57	4.97	4.97	0.65823	.	0.473178	0.17439	U	0.174190	T	0.19725	0.0474	N	0.16307	0.4	0.31002	N	0.72024	B;B;B;B;B;B;B;B	0.09022	0.002;0.002;0.002;0.001;0.002;0.002;0.002;0.002	B;B;B;B;B;B;B;B	0.08055	0.003;0.003;0.003;0.001;0.003;0.003;0.003;0.003	T	0.05209	-1.0899	10	0.06757	T	0.87	.	17.8073	0.88605	0.0:1.0:0.0:0.0	.	1323;1282;1274;1433;1264;1296;1300;1296	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	L	1296;1300;1296;1264;1433;1274;1282;1323;1319	ENSP00000344848:V1296L;ENSP00000350277:V1300L;ENSP00000346602:V1296L;ENSP00000381756:V1264L;ENSP00000323856:V1433L;ENSP00000347044:V1274L;ENSP00000348702:V1282L;ENSP00000388180:V1323L;ENSP00000434583:V1319L	ENSP00000323856:V1433L	V	-	1	0	PLEC	145073192	0.002000	0.14202	0.930000	0.37139	0.957000	0.61999	0.251000	0.18257	2.300000	0.77407	0.448000	0.29417	GTG	PLEC	-	smart_Spectrin/alpha-actinin	ENSG00000178209		0.647	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEC	HGNC	protein_coding	OTTHUMT00000383281.1	16	0.00	0	C	NM_000445		145001204	145001204	-1	no_errors	ENST00000322810	ensembl	human	known	69_37n	missense	24	40.00	16	SNP	0.957	A
PLTP	5360	genome.wustl.edu	37	20	44534909	44534909	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A42T-01A-11D-A243-09	TCGA-BH-A42T-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d13900dd-7b11-4eda-80be-39432a8ef6fd	183475fd-fef3-42f3-aeb4-594394187c24	g.chr20:44534909G>A	ENST00000477313.1	-	7	1297	c.703C>T	c.(703-705)Cgg>Tgg	p.R235W	PLTP_ENST00000372431.3_Missense_Mutation_p.R235W|PLTP_ENST00000354050.4_Missense_Mutation_p.R183W|PLTP_ENST00000420868.2_Missense_Mutation_p.R140W|PLTP_ENST00000372420.1_Missense_Mutation_p.R147W|PLTP_ENST00000542937.1_Missense_Mutation_p.R255W			P55058	PLTP_HUMAN	phospholipid transfer protein	235					lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|sperm motility (GO:0030317)|vitamin E biosynthetic process (GO:0010189)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	lipid binding (GO:0008289)			endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)	21		Myeloproliferative disorder(115;0.0122)				CAGCTCACCCGGAAGTCCATG	0.502																																						dbGAP											0			GRCh37	CM066590	PLTP	M							98.0	79.0	85.0					20																	44534909		2203	4300	6503	-	-	-	SO:0001583	missense	0			L26232	CCDS13386.1, CCDS13387.1, CCDS56196.1, CCDS56197.1	20q13.12	2011-08-16			ENSG00000100979	ENSG00000100979		"""BPI fold containing"""	9093	protein-coding gene	gene with protein product	"""BPI fold containing family E"""	172425					Standard	NM_006227		Approved	BPIFE	uc002xqn.2	P55058	OTTHUMG00000033047	ENST00000477313.1:c.703C>T	20.37:g.44534909G>A	ENSP00000417138:p.Arg235Trp		A8K006|B4DDD5|B4DRB4|E1P5N8|E7EV16|Q8WTT1|Q9BR07|Q9BSH8	Missense_Mutation	SNP	pfam_Lipid-bd_serum_glycop_C,pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C	p.R255W	ENST00000477313.1	37	c.763	CCDS13386.1	20	.	.	.	.	.	.	.	.	.	.	G	21.9	4.214952	0.79352	.	.	ENSG00000100979	ENST00000372420;ENST00000372431;ENST00000354050;ENST00000477313;ENST00000542937;ENST00000420868	T;T;T;T;T;T	0.10477	2.87;2.87;2.87;2.87;2.87;2.87	5.4	5.4	0.78164	Lipid-binding serum glycoprotein, N-terminal (1);Lipid-binding serum glycoprotein, C-terminal (1);Bactericidal permeability-increasing protein, alpha/beta domain (1);	0.106857	0.64402	D	0.000013	T	0.25938	0.0632	L	0.51422	1.61	0.49299	D	0.999777	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.79784	0.993;0.993;0.991;0.991;0.985;0.991;0.991	T	0.00104	-1.2058	10	0.87932	D	0	-35.8045	11.872	0.52525	0.0:0.0:0.7169:0.2831	.	140;140;147;235;183;235;255	E7EV16;B4DRB4;B4DDD5;Q53H91;P55058-2;P55058;B3KUE5	.;.;.;.;.;PLTP_HUMAN;.	W	147;235;183;235;255;140	ENSP00000361497:R147W;ENSP00000361508:R235W;ENSP00000335290:R183W;ENSP00000417138:R235W;ENSP00000440296:R255W;ENSP00000411671:R140W	ENSP00000335290:R183W	R	-	1	2	PLTP	43968316	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.733000	0.55029	2.811000	0.96726	0.555000	0.69702	CGG	PLTP	-	pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N	ENSG00000100979		0.502	PLTP-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PLTP	HGNC	protein_coding	OTTHUMT00000354633.1	16	0.00	0	G	NM_006227		44534909	44534909	-1	no_errors	ENST00000542937	ensembl	human	known	69_37n	missense	25	37.50	15	SNP	1.000	A
RAB19	401409	genome.wustl.edu	37	7	140111798	140111798	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A42T-01A-11D-A243-09	TCGA-BH-A42T-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d13900dd-7b11-4eda-80be-39432a8ef6fd	183475fd-fef3-42f3-aeb4-594394187c24	g.chr7:140111798C>G	ENST00000356407.3	+	2	394	c.326C>G	c.(325-327)cCt>cGt	p.P109R	RAB19_ENST00000275874.5_Missense_Mutation_p.P156R|RAB19_ENST00000537763.1_Missense_Mutation_p.P109R			A4D1S5	RAB19_HUMAN	RAB19, member RAS oncogene family	109					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			breast(3)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9	Melanoma(164;0.0142)					GAGTCCATCCCTCACTGGATT	0.493																																						dbGAP											0													175.0	151.0	159.0					7																	140111798		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS34762.1, CCDS34762.2	7q34	2014-05-09			ENSG00000146955	ENSG00000146955		"""RAB, member RAS oncogene"""	19982	protein-coding gene	gene with protein product							Standard	NM_001008749		Approved	RAB19B	uc010lni.2	A4D1S5	OTTHUMG00000157410	ENST00000356407.3:c.326C>G	7.37:g.140111798C>G	ENSP00000348778:p.Pro109Arg		A4D1S6|B2RTS6|B5MDR2|Q9UL27	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.P156R	ENST00000356407.3	37	c.467	CCDS34762.2	7	.	.	.	.	.	.	.	.	.	.	C	15.32	2.799240	0.50208	.	.	ENSG00000146955	ENST00000495590;ENST00000275874;ENST00000537763;ENST00000356407	T;T;T;T	0.75589	-0.95;-0.95;-0.95;-0.95	5.66	5.66	0.87406	Small GTP-binding protein domain (1);	0.146747	0.64402	D	0.000007	T	0.76716	0.4026	N	0.12663	0.25	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	T	0.80096	-0.1525	10	0.52906	T	0.07	.	18.7315	0.91736	0.0:1.0:0.0:0.0	.	109	A4D1S5	RAB19_HUMAN	R	109;156;109;109	ENSP00000420782:P109R;ENSP00000275874:P156R;ENSP00000440167:P109R;ENSP00000348778:P109R	ENSP00000275874:P156R	P	+	2	0	RAB19	139758267	1.000000	0.71417	0.333000	0.25482	0.186000	0.23388	7.726000	0.84824	2.670000	0.90874	0.543000	0.68304	CCT	RAB19	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000146955		0.493	RAB19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB19	HGNC	protein_coding	OTTHUMT00000348740.1	68	0.00	0	C			140111798	140111798	+1	no_errors	ENST00000275874	ensembl	human	known	69_37n	missense	11	69.44	25	SNP	1.000	G
RMND1	55005	genome.wustl.edu	37	6	151738413	151738413	+	Splice_Site	SNP	C	C	A			TCGA-BH-A42T-01A-11D-A243-09	TCGA-BH-A42T-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d13900dd-7b11-4eda-80be-39432a8ef6fd	183475fd-fef3-42f3-aeb4-594394187c24	g.chr6:151738413C>A	ENST00000367303.4	-	10	1323		c.e10+1		RMND1_ENST00000336451.3_Splice_Site	NM_017909.2	NP_060379.2	Q9NWS8	RMND1_HUMAN	required for meiotic nuclear division 1 homolog (S. cerevisiae)						translation (GO:0006412)	mitochondrion (GO:0005739)				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.146)	OV - Ovarian serous cystadenocarcinoma(155;6.8e-11)		AAAATACGTACCTTAACTCTT	0.383																																						dbGAP											0													121.0	115.0	117.0					6																	151738413		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AK000634	CCDS5232.1, CCDS75539.1	6q25.1	2008-02-05	2006-11-24	2006-11-24	ENSG00000155906	ENSG00000155906			21176	protein-coding gene	gene with protein product		614917	"""chromosome 6 open reading frame 96"""	C6orf96			Standard	NM_001271937		Approved	bA351K16.3, FLJ20627, RMD1	uc003qoi.3	Q9NWS8	OTTHUMG00000015837	ENST00000367303.4:c.1200+1G>T	6.37:g.151738413C>A			A8K8H4|Q0VDG6|Q5SZ48|Q5SZ83|Q6NSC5|Q96EN7	Splice_Site	SNP	-	e9+1	ENST00000367303.4	37	c.1200+1	CCDS5232.1	6	.	.	.	.	.	.	.	.	.	.	C	17.57	3.423644	0.62733	.	.	ENSG00000155906	ENST00000336451;ENST00000367303;ENST00000367299	.	.	.	5.85	5.85	0.93711	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.9121	0.88937	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RMND1	151780106	1.000000	0.71417	1.000000	0.80357	0.443000	0.32047	6.926000	0.75835	2.762000	0.94881	0.555000	0.69702	.	RMND1	-	-	ENSG00000155906		0.383	RMND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RMND1	HGNC	protein_coding	OTTHUMT00000042718.2	26	0.00	0	C	NM_017909	Intron	151738413	151738413	-1	no_errors	ENST00000367303	ensembl	human	known	69_37n	splice_site	28	34.88	15	SNP	1.000	A
SERPINC1	462	genome.wustl.edu	37	1	173878836	173878836	+	Missense_Mutation	SNP	A	A	C			TCGA-BH-A42T-01A-11D-A243-09	TCGA-BH-A42T-10A-01D-A243-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d13900dd-7b11-4eda-80be-39432a8ef6fd	183475fd-fef3-42f3-aeb4-594394187c24	g.chr1:173878836A>C	ENST00000367698.3	-	5	1125	c.1007T>G	c.(1006-1008)cTg>cGg	p.L336R	SERPINC1_ENST00000494024.1_5'Flank	NM_000488.3	NP_000479.1	P01008	ANT3_HUMAN	serpin peptidase inhibitor, clade C (antithrombin), member 1	336					blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of inflammatory response (GO:0050728)|regulation of blood coagulation, intrinsic pathway (GO:2000266)|regulation of proteolysis (GO:0030162)|response to nutrient (GO:0007584)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1)	25					Ardeparin(DB00407)|Dalteparin(DB06779)|Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)|Nadroparin(DB08813)|Sulodexide(DB06271)|Tinzaparin(DB06822)	CCACTCTTGCAGCACCTCTGG	0.552																																						dbGAP											0													158.0	155.0	156.0					1																	173878836		2203	4300	6503	-	-	-	SO:0001583	missense	0			X68793	CCDS1313.1	1q25.1	2014-02-18	2005-08-18		ENSG00000117601	ENSG00000117601		"""Serine (or cysteine) peptidase inhibitors"""	775	protein-coding gene	gene with protein product	"""antithrombin III"", ""signal peptide antithrombin part 1"", ""coding sequence signal peptide antithrombin part 1"", ""antithrombin (aa 375-432)"""	107300	"""serine (or cysteine) proteinase inhibitor, clade C (antithrombin), member 1"""	AT3		3979120, 24172014	Standard	NM_000488		Approved	ATIII, MGC22579	uc001gjt.3	P01008	OTTHUMG00000037276	ENST00000367698.3:c.1007T>G	1.37:g.173878836A>C	ENSP00000356671:p.Leu336Arg		B2R6P0|P78439|P78447|Q13815|Q5TC78|Q7KZ43|Q7KZ97|Q9UC78	Missense_Mutation	SNP	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom	p.L336R	ENST00000367698.3	37	c.1007	CCDS1313.1	1	.	.	.	.	.	.	.	.	.	.	A	23.0	4.357887	0.82243	.	.	ENSG00000117601	ENST00000367698	D	0.86030	-2.06	5.64	5.64	0.86602	Serpin domain (3);	0.136632	0.50627	D	0.000103	D	0.94515	0.8234	H	0.96604	3.85	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96282	0.9207	10	0.87932	D	0	.	15.5193	0.75854	1.0:0.0:0.0:0.0	.	336	P01008	ANT3_HUMAN	R	336	ENSP00000356671:L336R	ENSP00000356671:L336R	L	-	2	0	SERPINC1	172145459	1.000000	0.71417	1.000000	0.80357	0.806000	0.45545	4.680000	0.61656	2.147000	0.66899	0.533000	0.62120	CTG	SERPINC1	-	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom	ENSG00000117601		0.552	SERPINC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINC1	HGNC	protein_coding	OTTHUMT00000090734.1	43	0.00	0	A	NM_000488		173878836	173878836	-1	no_errors	ENST00000367698	ensembl	human	known	69_37n	missense	80	15.79	15	SNP	0.997	C
SH2D3C	10044	genome.wustl.edu	37	9	130511725	130511725	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A42T-01A-11D-A243-09	TCGA-BH-A42T-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d13900dd-7b11-4eda-80be-39432a8ef6fd	183475fd-fef3-42f3-aeb4-594394187c24	g.chr9:130511725C>T	ENST00000314830.8	-	5	1017	c.904G>A	c.(904-906)Ggc>Agc	p.G302S	SH2D3C_ENST00000471939.1_Intron|SH2D3C_ENST00000429553.1_5'UTR|SH2D3C_ENST00000373276.3_Missense_Mutation_p.G234S|SH2D3C_ENST00000373277.4_Missense_Mutation_p.G145S|SH2D3C_ENST00000420366.1_Missense_Mutation_p.G144S|SH2D3C_ENST00000373274.3_Missense_Mutation_p.G142S	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	302	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				JNK cascade (GO:0007254)|positive regulation of signal transduction (GO:0009967)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TTGCGGCTGCCCACATGATAG	0.612																																						dbGAP											0													85.0	73.0	77.0					9																	130511725		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF124251	CCDS6877.1, CCDS6878.1, CCDS48026.1, CCDS48028.1, CCDS59145.1	9q33.1-q33.3	2013-02-14	2002-01-14		ENSG00000095370	ENSG00000095370		"""SH2 domain containing"""	16884	protein-coding gene	gene with protein product		604722	"""SH2 domain-containing 3C"""			10187783	Standard	NM_170600		Approved	NSP3	uc004bsc.3	Q8N5H7	OTTHUMG00000020717	ENST00000314830.8:c.904G>A	9.37:g.130511725C>T	ENSP00000317817:p.Gly302Ser		A8K5S8|E9PG48|Q5HYE5|Q5JU31|Q6UY42|Q8N6X3|Q9Y2X5	Nonsense_Mutation	SNP	pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2	p.W138*	ENST00000314830.8	37	c.414	CCDS6877.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.512334|5.512334	0.96402|0.96402	.|.	.|.	ENSG00000095370|ENSG00000095370	ENST00000373277;ENST00000420366;ENST00000373276;ENST00000373274;ENST00000314830;ENST00000414380|ENST00000440630	T;T;T;T;T;T|.	0.62498|.	0.02;0.02;0.02;0.02;0.02;0.02|.	5.67|5.67	5.67|5.67	0.87782|0.87782	SH2 motif (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.69061|.	0.3069|.	L|L	0.46741|0.46741	1.465|1.465	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.89917|.	0.986;0.998;1.0;1.0;1.0|.	D;D;D;D;D|.	0.97110|.	0.94;0.983;0.999;1.0;0.996|.	T|.	0.64162|.	-0.6472|.	10|.	0.46703|.	T|.	0.11|.	-28.2706|-28.2706	18.7489|18.7489	0.91806|0.91806	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	142;302;234;145;144|.	E9PG48;Q8N5H7;E7EUN5;Q8N5H7-2;Q8N5H7-5|.	.;SH2D3_HUMAN;.;.;.|.	S|X	145;144;234;142;302;119|138	ENSP00000362374:G145S;ENSP00000388536:G144S;ENSP00000362373:G234S;ENSP00000362371:G142S;ENSP00000317817:G302S;ENSP00000413760:G119S|.	ENSP00000317817:G302S|.	G|W	-|-	1|3	0|0	SH2D3C|SH2D3C	129551546|129551546	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.951000|0.951000	0.60555|0.60555	7.294000|7.294000	0.78760|0.78760	2.686000|2.686000	0.91538|0.91538	0.561000|0.561000	0.74099|0.74099	GGC|TGG	SH2D3C	-	smart_SH2,pfscan_SH2,prints_SH2	ENSG00000095370		0.612	SH2D3C-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SH2D3C	HGNC	protein_coding	OTTHUMT00000054264.1	38	0.00	0	C	NM_005489		130511725	130511725	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000440630	ensembl	human	known	69_37n	nonsense	17	57.50	23	SNP	1.000	T
SLC39A11	201266	genome.wustl.edu	37	17	70643714	70643714	+	3'UTR	SNP	G	G	A	rs193153239	byFrequency	TCGA-BH-A42T-01A-11D-A243-09	TCGA-BH-A42T-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d13900dd-7b11-4eda-80be-39432a8ef6fd	183475fd-fef3-42f3-aeb4-594394187c24	g.chr17:70643714G>A	ENST00000542342.2	-	0	1126				SLC39A11_ENST00000255559.3_3'UTR|SLC39A11_ENST00000579988.1_5'UTR	NM_001159770.1	NP_001153242.1	Q8N1S5	S39AB_HUMAN	solute carrier family 39, member 11						zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)			endometrium(1)|large_intestine(4)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						GGTCCGAAGCGTCTCAGCCCT	0.507																																					NSCLC(95;736 1527 12296 39625 41839)	dbGAP											0													80.0	69.0	73.0					17																	70643714		2203	4300	6503	-	-	-	SO:0001624	3_prime_UTR_variant	0			AF331643	CCDS11690.1, CCDS54160.1	17q24.3-q25.1	2014-08-12	2013-07-17	2003-10-24	ENSG00000133195	ENSG00000133195		"""Solute carriers"""	14463	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 26"""	C17orf26		11707075	Standard	NM_139177		Approved		uc002jjb.3	Q8N1S5	OTTHUMG00000178306	ENST00000542342.2:c.*9C>T	17.37:g.70643714G>A			B2R8H7|Q8WZ81	RNA	SNP	-	NULL	ENST00000542342.2	37	NULL	CCDS54160.1	17																																																																																			SLC39A11	-	-	ENSG00000133195		0.507	SLC39A11-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC39A11	HGNC	protein_coding	OTTHUMT00000441442.1	27	0.00	0	G			70643714	70643714	-1	no_errors	ENST00000579988	ensembl	human	known	69_37n	rna	25	44.44	20	SNP	0.000	A
SMG9	56006	genome.wustl.edu	37	19	44249017	44249017	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A42T-01A-11D-A243-09	TCGA-BH-A42T-10A-01D-A243-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d13900dd-7b11-4eda-80be-39432a8ef6fd	183475fd-fef3-42f3-aeb4-594394187c24	g.chr19:44249017T>C	ENST00000270066.6	-	6	950	c.608A>G	c.(607-609)gAt>gGt	p.D203G	SMG9_ENST00000601170.1_Missense_Mutation_p.D203G	NM_019108.2	NP_061981.2	Q9H0W8	SMG9_HUMAN	SMG9 nonsense mediated mRNA decay factor	203					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)|intracellular (GO:0005622)	identical protein binding (GO:0042802)			kidney(1)|large_intestine(5)|liver(1)|lung(7)|pancreas(1)|prostate(2)|urinary_tract(2)	19						CACCAACACATCAGTCTGATC	0.542											OREG0025533	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													169.0	123.0	139.0					19																	44249017		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC008869	CCDS33043.2	19q13.31	2013-07-02	2013-07-02	2011-06-21	ENSG00000105771	ENSG00000105771			25763	protein-coding gene	gene with protein product		613176	"""chromosome 19 open reading frame 61"", ""smg-9 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C19orf61		11230166, 19417104	Standard	NM_019108		Approved	FLJ12886	uc002oxj.2	Q9H0W8	OTTHUMG00000150337	ENST00000270066.6:c.608A>G	19.37:g.44249017T>C	ENSP00000270066:p.Asp203Gly	922	O60429|Q9H9A9	Missense_Mutation	SNP	pfam_Smg8/Smg9	p.D203G	ENST00000270066.6	37	c.608	CCDS33043.2	19	.	.	.	.	.	.	.	.	.	.	T	21.9	4.217738	0.79352	.	.	ENSG00000105771	ENST00000270066	T	0.62232	0.04	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.74959	0.3785	M	0.64997	1.995	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.68483	0.929;0.958	T	0.77040	-0.2735	10	0.59425	D	0.04	-1.3258	13.3931	0.60834	0.0:0.0:0.0:1.0	.	203;203	Q9H0W8-2;Q9H0W8	.;SMG9_HUMAN	G	203	ENSP00000270066:D203G	ENSP00000270066:D203G	D	-	2	0	SMG9	48940857	1.000000	0.71417	0.990000	0.47175	0.985000	0.73830	5.290000	0.65661	2.059000	0.61396	0.374000	0.22700	GAT	SMG9	-	pfam_Smg8/Smg9	ENSG00000105771		0.542	SMG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMG9	HGNC	protein_coding	OTTHUMT00000317668.1	41	0.00	0	T	NM_019108		44249017	44249017	-1	no_errors	ENST00000270066	ensembl	human	known	69_37n	missense	31	27.91	12	SNP	1.000	C
SOCS4	122809	genome.wustl.edu	37	14	55510648	55510648	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BH-A42T-01A-11D-A243-09	TCGA-BH-A42T-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d13900dd-7b11-4eda-80be-39432a8ef6fd	183475fd-fef3-42f3-aeb4-594394187c24	g.chr14:55510648G>T	ENST00000395472.2	+	2	1221	c.889G>T	c.(889-891)Gaa>Taa	p.E297*	SOCS4_ENST00000339298.2_Nonsense_Mutation_p.E297*|SOCS4_ENST00000555846.1_Nonsense_Mutation_p.E297*	NM_080867.2|NM_199421.1	NP_543143.1|NP_955453.1	Q8WXH5	SOCS4_HUMAN	suppressor of cytokine signaling 4	297	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				intracellular signal transduction (GO:0035556)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)					central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	14						ATACGCAGCCGAAGCACTACT	0.433																																						dbGAP											0													118.0	114.0	115.0					14																	55510648		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF424815	CCDS9722.1	14q22.1	2013-02-14	2004-02-25	2004-02-27	ENSG00000180008	ENSG00000180008		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	19392	protein-coding gene	gene with protein product			"""suppressor of cytokine signaling 7"""	SOCS7		12076535, 10500304	Standard	NM_080867		Approved		uc001xbp.3	Q8WXH5	OTTHUMG00000140311	ENST00000395472.2:c.889G>T	14.37:g.55510648G>T	ENSP00000378855:p.Glu297*			Nonsense_Mutation	SNP	pfam_SOCS,pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2	p.E297*	ENST00000395472.2	37	c.889	CCDS9722.1	14	.	.	.	.	.	.	.	.	.	.	G	28.7	4.942898	0.92526	.	.	ENSG00000180008	ENST00000395472;ENST00000555846;ENST00000339298	.	.	.	5.77	5.77	0.91146	.	0.126097	0.50627	D	0.000116	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-22.4779	19.9869	0.97352	0.0:0.0:1.0:0.0	.	.	.	.	X	297	.	ENSP00000341327:E297X	E	+	1	0	SOCS4	54580401	1.000000	0.71417	0.998000	0.56505	0.319000	0.28217	9.864000	0.99589	2.708000	0.92522	0.650000	0.86243	GAA	SOCS4	-	pfam_SH2,smart_SH2,pfscan_SH2	ENSG00000180008		0.433	SOCS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOCS4	HGNC	protein_coding	OTTHUMT00000276910.1	34	0.00	0	G			55510648	55510648	+1	no_errors	ENST00000339298	ensembl	human	known	69_37n	nonsense	20	13.04	3	SNP	1.000	T
SPG20	23111	genome.wustl.edu	37	13	36900603	36900603	+	Intron	SNP	C	C	G			TCGA-BH-A42T-01A-11D-A243-09	TCGA-BH-A42T-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d13900dd-7b11-4eda-80be-39432a8ef6fd	183475fd-fef3-42f3-aeb4-594394187c24	g.chr13:36900603C>G	ENST00000451493.1	-	5	1506				SPG20_ENST00000355182.4_Intron|SPG20_ENST00000495510.1_5'UTR|SPG20_ENST00000494062.2_Intron|SPG20_ENST00000438666.2_Intron	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	spastic paraplegia 20 (Troyer syndrome)						abscission (GO:0009838)|adipose tissue development (GO:0060612)|cell death (GO:0008219)|cell division (GO:0051301)|lipid particle organization (GO:0034389)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of collateral sprouting in absence of injury (GO:0048698)|neuromuscular process (GO:0050905)|regulation of mitochondrial membrane potential (GO:0051881)	cytoplasm (GO:0005737)|lipid particle (GO:0005811)|midbody (GO:0030496)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		TCATTTAAAACCAAAATACAA	0.264																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AB011182	CCDS9356.1	13q13.1	2008-07-04	2007-04-23		ENSG00000133104	ENSG00000133104			18514	protein-coding gene	gene with protein product	"""spartin"""	607111				6022528, 12134148	Standard	NM_001142294		Approved	KIAA0610, TAHCCP1	uc001uvm.3	Q8N0X7	OTTHUMG00000016730	ENST00000451493.1:c.1288+108G>C	13.37:g.36900603C>G			O60349|Q86Y67|Q9H1T2|Q9H1T3	RNA	SNP	-	NULL	ENST00000451493.1	37	NULL	CCDS9356.1	13																																																																																			SPG20	-	-	ENSG00000133104		0.264	SPG20-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SPG20	HGNC	protein_coding	OTTHUMT00000044494.2	22	0.00	0	C			36900603	36900603	-1	no_errors	ENST00000495510	ensembl	human	known	69_37n	rna	11	42.11	8	SNP	0.009	G
TBP	6908	genome.wustl.edu	37	6	170871058	170871058	+	Silent	SNP	G	G	A	rs113440919		TCGA-BH-A42T-01A-11D-A243-09	TCGA-BH-A42T-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d13900dd-7b11-4eda-80be-39432a8ef6fd	183475fd-fef3-42f3-aeb4-594394187c24	g.chr6:170871058G>A	ENST00000392092.2	+	3	513	c.234G>A	c.(232-234)caG>caA	p.Q78Q	TBP_ENST00000230354.6_Silent_p.Q78Q|TBP_ENST00000540980.1_Silent_p.Q58Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	78	Poly-Gln.				cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcagcagcagcagcagcagc	0.577																																						dbGAP											0													13.0	18.0	16.0					6																	170871058		1927	3786	5713	-	-	-	SO:0001819	synonymous_variant	0			M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"""General transcription factors"""	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.234G>A	6.37:g.170871058G>A			B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	pfam_TBP,prints_TBP	p.Q78	ENST00000392092.2	37	c.234	CCDS5315.1	6																																																																																			TBP	-	NULL	ENSG00000112592		0.577	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBP	HGNC	protein_coding	OTTHUMT00000043271.2	33	0.00	0	G	NM_003194		170871058	170871058	+1	no_errors	ENST00000230354	ensembl	human	known	69_37n	silent	40	17.65	9	SNP	0.998	A
TBRG4	9238	genome.wustl.edu	37	7	45145242	45145242	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A42T-01A-11D-A243-09	TCGA-BH-A42T-10A-01D-A243-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d13900dd-7b11-4eda-80be-39432a8ef6fd	183475fd-fef3-42f3-aeb4-594394187c24	g.chr7:45145242T>C	ENST00000258770.3	-	3	654	c.533A>G	c.(532-534)aAg>aGg	p.K178R	TBRG4_ENST00000494076.1_Missense_Mutation_p.K178R|TBRG4_ENST00000361278.3_Missense_Mutation_p.K178R|SNORA5A_ENST00000384111.1_RNA|TBRG4_ENST00000471142.1_5'Flank|SNORA5B_ENST00000363786.1_RNA|TBRG4_ENST00000395655.4_Missense_Mutation_p.K178R|SNORA5C_ENST00000364902.1_RNA	NM_004749.3	NP_004740.2	Q969Z0	TBRG4_HUMAN	transforming growth factor beta regulator 4	178					cell cycle arrest (GO:0007050)|cellular respiration (GO:0045333)|positive regulation of cell proliferation (GO:0008284)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			cervix(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(2)	17						GTACTTGAGCTTCCGCATGCG	0.632																																						dbGAP											0													84.0	82.0	83.0					7																	45145242		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB023165	CCDS5501.1, CCDS5502.1	7p13	2006-07-07			ENSG00000136270	ENSG00000136270			17443	protein-coding gene	gene with protein product	"""FAST kinase domains 4"", ""cell cycle progression 2 protein"""	611325				9383053	Standard	NM_004749		Approved	Cpr2, KIAA0948, H_TD2522F11.8, FASTKD4	uc011kcd.3	Q969Z0	OTTHUMG00000129247	ENST00000258770.3:c.533A>G	7.37:g.45145242T>C	ENSP00000258770:p.Lys178Arg		A4D2L2|A4D2L3|D3DVL5|D3DVL6|O14710|Q53GI8|Q8NDM4|Q9BUC6|Q9Y2F6	Missense_Mutation	SNP	pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP	p.K178R	ENST00000258770.3	37	c.533	CCDS5501.1	7	.	.	.	.	.	.	.	.	.	.	T	5.873	0.345145	0.11126	.	.	ENSG00000136270	ENST00000258770;ENST00000361278;ENST00000395655;ENST00000494076;ENST00000478532;ENST00000461363	T;T;T;T;T;T	0.33865	1.39;1.39;1.39;1.39;1.39;1.39	5.76	4.85	0.62838	.	0.104089	0.64402	N	0.000005	T	0.06826	0.0174	N	0.00061	-2.33	0.27316	N	0.95718	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.0;0.0;0.002	T	0.26360	-1.0105	10	0.02654	T	1	.	11.745	0.51815	0.0:0.9171:0.0:0.0829	.	189;178;178	B4DU42;Q969Z0-2;Q969Z0	.;.;TBRG4_HUMAN	R	178;178;178;178;143;124	ENSP00000258770:K178R;ENSP00000354992:K178R;ENSP00000379016:K178R;ENSP00000420597:K178R;ENSP00000418631:K143R;ENSP00000417743:K124R	ENSP00000258770:K178R	K	-	2	0	TBRG4	45111767	0.997000	0.39634	1.000000	0.80357	0.677000	0.39632	4.061000	0.57485	1.423000	0.47198	-0.177000	0.13119	AAG	TBRG4	-	NULL	ENSG00000136270		0.632	TBRG4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	TBRG4	HGNC	protein_coding	OTTHUMT00000251351.1	20	0.00	0	T	NM_030900		45145242	45145242	-1	no_errors	ENST00000258770	ensembl	human	known	69_37n	missense	32	23.81	10	SNP	1.000	C
TOX	9760	genome.wustl.edu	37	8	59750755	59750755	+	Nonsense_Mutation	SNP	A	A	T			TCGA-BH-A42T-01A-11D-A243-09	TCGA-BH-A42T-10A-01D-A243-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d13900dd-7b11-4eda-80be-39432a8ef6fd	183475fd-fef3-42f3-aeb4-594394187c24	g.chr8:59750755A>T	ENST00000361421.1	-	5	1029	c.809T>A	c.(808-810)tTa>tAa	p.L270*		NM_014729.2	NP_055544.1	O94900	TOX_HUMAN	thymocyte selection-associated high mobility group box	270						nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				ACGAAAGAATAACGCATAGGC	0.478																																					Pancreas(161;610 1969 17913 21374 22725)	dbGAP											0													116.0	115.0	116.0					8																	59750755		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS34897.1	8q12.2-q12.3	2009-04-17			ENSG00000198846	ENSG00000198846			18988	protein-coding gene	gene with protein product		606863				9872452, 11850626	Standard	NM_014729		Approved	KIAA0808, TOX1	uc003xtw.1	O94900	OTTHUMG00000164331	ENST00000361421.1:c.809T>A	8.37:g.59750755A>T	ENSP00000354842:p.Leu270*		Q96AV5	Nonsense_Mutation	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.L270*	ENST00000361421.1	37	c.809	CCDS34897.1	8	.	.	.	.	.	.	.	.	.	.	A	39	7.453287	0.98292	.	.	ENSG00000198846	ENST00000361421;ENST00000456290	.	.	.	5.59	5.59	0.84812	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.769	0.78149	1.0:0.0:0.0:0.0	.	.	.	.	X	270;28	.	.	L	-	2	0	TOX	59913309	0.997000	0.39634	0.205000	0.23548	0.974000	0.67602	9.339000	0.96797	2.118000	0.64928	0.482000	0.46254	TTA	TOX	-	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	ENSG00000198846		0.478	TOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOX	HGNC	protein_coding	OTTHUMT00000378307.1	48	0.00	0	A	NM_014729		59750755	59750755	-1	no_errors	ENST00000361421	ensembl	human	known	69_37n	nonsense	46	28.12	18	SNP	0.919	T
VPS13B	157680	genome.wustl.edu	37	8	100880677	100880677	+	Silent	SNP	G	G	A			TCGA-BH-A42T-01A-11D-A243-09	TCGA-BH-A42T-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d13900dd-7b11-4eda-80be-39432a8ef6fd	183475fd-fef3-42f3-aeb4-594394187c24	g.chr8:100880677G>A	ENST00000358544.2	+	59	11562	c.11451G>A	c.(11449-11451)gtG>gtA	p.V3817V	VPS13B_ENST00000357162.2_Silent_p.V3792V|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3817					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CTGAGCTGGTGTCACAGACTG	0.527																																					Colon(161;2205 2542 7338 31318)	dbGAP											0													64.0	57.0	59.0					8																	100880677		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.11451G>A	8.37:g.100880677G>A			C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Silent	SNP	pfam_Autophagy-rel_C	p.V3817	ENST00000358544.2	37	c.11451	CCDS6280.1	8																																																																																			VPS13B	-	pfam_Autophagy-rel_C	ENSG00000132549		0.527	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13B	HGNC	protein_coding	OTTHUMT00000277138.1	37	0.00	0	G	NM_184042		100880677	100880677	+1	no_errors	ENST00000358544	ensembl	human	known	69_37n	silent	28	48.15	26	SNP	1.000	A
WASH6P	653440	genome.wustl.edu	37	X	155252116	155252116	+	RNA	SNP	C	C	T			TCGA-BH-A42T-01A-11D-A243-09	TCGA-BH-A42T-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d13900dd-7b11-4eda-80be-39432a8ef6fd	183475fd-fef3-42f3-aeb4-594394187c24	g.chrX:155252116C>T	ENST00000461007.1	+	0	1124				AJ271736.10_ENST00000285718.7_RNA			Q9NQA3	WASH6_HUMAN	WAS protein family homolog 6 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)										TCAACACCACCGAGAACCTGT	0.617																																						dbGAP											0																																										-	-	-			0			AI042587		Xq28 and Yq12	2014-08-28	2008-01-16	2008-01-16	ENSG00000182484	ENSG00000182484		"""Pseudoautosomal regions / PAR2"", ""WAS protein homologs"""	31685	pseudogene	pseudogene			"""family with sequence similarity 39, member A"", ""chromosomes X and Y open reading frame 1"""	FAM39A, CXYorf1		10655549, 12566406, 18159949	Standard	NG_008380		Approved			Q9NQA3	OTTHUMG00000022677		X.37:g.155252116C>T			A6NGF1|Q8N305	Silent	SNP	pfam_WASH_WASD	p.T192	ENST00000461007.1	37	c.576		X																																																																																			WASH6P	-	NULL	ENSG00000182484		0.617	WASH6P-016	KNOWN	basic	processed_transcript	WASH6P	HGNC	pseudogene	OTTHUMT00000058840.1	42	0.00	0	C	NG_008380		155252116	155252116	+1	no_errors	ENST00000359512	ensembl	human	known	69_37n	silent	46	22.03	13	SNP	0.997	T
ZAN	7455	genome.wustl.edu	37	7	100349919	100349919	+	RNA	SNP	T	T	C	rs200193075	byFrequency	TCGA-BH-A42T-01A-11D-A243-09	TCGA-BH-A42T-10A-01D-A243-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d13900dd-7b11-4eda-80be-39432a8ef6fd	183475fd-fef3-42f3-aeb4-594394187c24	g.chr7:100349919T>C	ENST00000348028.3	+	0	2356				ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000538115.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S731P(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CACAGAAAAATCCACCATCTC	0.517													N|||	80	0.0159744	0.0091	0.0144	5008	,	,		14946	0.0377		0.0159	False		,,,				2504	0.0041					dbGAP											1	Substitution - Missense(1)	skin(1)											141.0	157.0	152.0					7																	100349919		1822	4070	5892	-	-	-			0			U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100349919T>C			A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EGF-like,pfscan_EG-like_dom,pfscan_MAM_dom	p.S731P	ENST00000348028.3	37	c.2191		7	.	.	.	.	.	.	.	.	.	.	N	4.049	0.006856	0.07866	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.64085	-0.08;-0.02;-0.08	3.93	-7.86	0.01187	.	.	.	.	.	T	0.34337	0.0894	N	0.02539	-0.55	0.19300	N	0.999976	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.61530	-0.7044	9	0.30078	T	0.28	.	16.8785	0.86058	0.1313:0.7109:0.0:0.1578	.	731;731	F5H0T8;Q9Y493	.;ZAN_HUMAN	P	731	ENSP00000445943:S731P;ENSP00000445091:S731P;ENSP00000444427:S731P	ENSP00000423579:S731P	S	+	1	0	ZAN	100187855	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-10.783000	0.00005	-6.293000	0.00005	-3.776000	0.00021	TCC	ZAN	-	NULL	ENSG00000146839		0.517	ZAN-006	KNOWN	basic	polymorphic_pseudogene	ZAN	HGNC	polymorphic_pseudogene	OTTHUMT00000347214.1	18	0.00	0	T	NM_003386		100349919	100349919	+1	no_errors	ENST00000546292	ensembl	human	known	69_37n	missense	19	24.00	6	SNP	0.000	C
ZBTB38	253461	genome.wustl.edu	37	3	141164738	141164738	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A42T-01A-11D-A243-09	TCGA-BH-A42T-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d13900dd-7b11-4eda-80be-39432a8ef6fd	183475fd-fef3-42f3-aeb4-594394187c24	g.chr3:141164738G>A	ENST00000514251.1	+	4	3787	c.3508G>A	c.(3508-3510)Gag>Aag	p.E1170K	ZBTB38_ENST00000441582.2_Missense_Mutation_p.E1170K|ZBTB38_ENST00000321464.5_Missense_Mutation_p.E1171K					zinc finger and BTB domain containing 38											breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						AAATCCCTTGGAGAATCAACA	0.408																																						dbGAP											0													139.0	144.0	142.0					3																	141164738		1892	4107	5999	-	-	-	SO:0001583	missense	0			BC015444	CCDS43157.1	3q23	2014-06-13			ENSG00000177311	ENSG00000177311		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	26636	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 171"""	612218				12477932	Standard	NM_001080412		Approved	FLJ35036, CIBZ, ZNF921, PPP1R171	uc003etw.3	Q8NAP3	OTTHUMG00000160128	ENST00000514251.1:c.3508G>A	3.37:g.141164738G>A	ENSP00000426387:p.Glu1170Lys			Missense_Mutation	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.E1171K	ENST00000514251.1	37	c.3511	CCDS43157.1	3	.	.	.	.	.	.	.	.	.	.	G	18.83	3.707019	0.68615	.	.	ENSG00000177311	ENST00000514251;ENST00000441582;ENST00000321464	T;T;T	0.09073	3.02;3.02;3.02	5.6	5.6	0.85130	.	0.166475	0.41605	D	0.000844	T	0.05502	0.0145	N	0.11560	0.145	0.41306	D	0.987071	P;P	0.42692	0.787;0.787	B;B	0.37091	0.241;0.241	T	0.53823	-0.8384	9	.	.	.	-21.4643	17.8057	0.88600	0.0:0.0:1.0:0.0	.	1171;1170	B4DYR8;Q8NAP3	.;ZBT38_HUMAN	K	1170;1170;1171	ENSP00000426387:E1170K;ENSP00000406955:E1170K;ENSP00000372635:E1171K	.	E	+	1	0	ZBTB38	142647428	1.000000	0.71417	0.983000	0.44433	0.717000	0.41224	5.506000	0.66993	2.636000	0.89361	0.655000	0.94253	GAG	ZBTB38	-	NULL	ENSG00000177311		0.408	ZBTB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB38	HGNC	protein_coding	OTTHUMT00000359329.2	17	0.00	0	G			141164738	141164738	+1	no_errors	ENST00000321464	ensembl	human	known	69_37n	missense	16	50.00	16	SNP	0.999	A
ZNF324	25799	genome.wustl.edu	37	19	58983309	58983309	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A42T-01A-11D-A243-09	TCGA-BH-A42T-10A-01D-A243-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d13900dd-7b11-4eda-80be-39432a8ef6fd	183475fd-fef3-42f3-aeb4-594394187c24	g.chr19:58983309A>G	ENST00000536459.2	+	4	2159	c.1450A>G	c.(1450-1452)Acg>Gcg	p.T484A	ZNF446_ENST00000596341.1_5'Flank|ZNF324_ENST00000196482.3_Missense_Mutation_p.T484A|ZNF324_ENST00000535298.1_Missense_Mutation_p.T261A			O75467	Z324A_HUMAN	zinc finger protein 324	484					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		CTTCGTGTGTACGCAGTGTGG	0.692																																						dbGAP											0													33.0	35.0	34.0					19																	58983309		2201	4299	6500	-	-	-	SO:0001583	missense	0			AF060503	CCDS12981.1	19q13.43	2013-01-08				ENSG00000083812		"""Zinc fingers, C2H2-type"", ""-"""	14096	protein-coding gene	gene with protein product							Standard	NM_014347		Approved	ZF5128, ZNF324A	uc002qsw.2	O75467		ENST00000536459.2:c.1450A>G	19.37:g.58983309A>G	ENSP00000444812:p.Thr484Ala		B3KRX1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.T484A	ENST00000536459.2	37	c.1450	CCDS12981.1	19	.	.	.	.	.	.	.	.	.	.	A	3.467	-0.108746	0.06924	.	.	ENSG00000083812	ENST00000196482;ENST00000536459;ENST00000539101;ENST00000535298	T;T;T	0.18338	2.22;2.22;2.22	3.84	-5.35	0.02697	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.560215	0.15070	N	0.282270	T	0.09202	0.0227	L	0.47078	1.49	0.09310	N	1	B	0.11235	0.004	B	0.16289	0.015	T	0.31916	-0.9926	10	0.23302	T	0.38	.	0.9758	0.01426	0.4675:0.1308:0.1411:0.2606	.	484	O75467	Z324A_HUMAN	A	484;484;474;261	ENSP00000196482:T484A;ENSP00000444812:T484A;ENSP00000439588:T261A	ENSP00000196482:T484A	T	+	1	0	ZNF324	63675121	0.000000	0.05858	0.004000	0.12327	0.063000	0.16089	-5.251000	0.00137	-0.816000	0.04340	-0.548000	0.04221	ACG	ZNF324	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000083812		0.692	ZNF324-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF324	HGNC	protein_coding	OTTHUMT00000467044.1	61	0.00	0	A	NM_014347		58983309	58983309	+1	no_errors	ENST00000196482	ensembl	human	known	69_37n	missense	35	40.68	24	SNP	0.000	G
ZNF879	345462	genome.wustl.edu	37	5	178459827	178459827	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A42T-01A-11D-A243-09	TCGA-BH-A42T-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d13900dd-7b11-4eda-80be-39432a8ef6fd	183475fd-fef3-42f3-aeb4-594394187c24	g.chr5:178459827G>A	ENST00000444149.2	+	5	1066	c.878G>A	c.(877-879)tGt>tAt	p.C293Y		NM_001136116.1	NP_001129588.1	B4DU55	ZN879_HUMAN	zinc finger protein 879	293					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|pancreas(1)|stomach(1)	7						TGCAAGGAATGTGGAAAAACA	0.393																																						dbGAP											0													40.0	36.0	37.0					5																	178459827		692	1591	2283	-	-	-	SO:0001583	missense	0			AK300504	CCDS47352.1	5q35.3	2013-01-08			ENSG00000234284	ENSG00000234284		"""Zinc fingers, C2H2-type"", ""-"""	37273	protein-coding gene	gene with protein product							Standard	NM_001136116		Approved	DKFZp686E2433	uc003mjt.4	B4DU55	OTTHUMG00000163596	ENST00000444149.2:c.878G>A	5.37:g.178459827G>A	ENSP00000414887:p.Cys293Tyr			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.C293Y	ENST00000444149.2	37	c.878	CCDS47352.1	5	.	.	.	.	.	.	.	.	.	.	G	18.84	3.709132	0.68615	.	.	ENSG00000234284	ENST00000444149	D	0.85861	-2.04	4.59	4.59	0.56863	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94866	0.8341	H	0.96748	3.875	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96298	0.9219	9	0.87932	D	0	-8.389	15.2822	0.73794	0.0:0.0:1.0:0.0	.	293	B4DU55	ZN879_HUMAN	Y	293	ENSP00000414887:C293Y	ENSP00000414887:C293Y	C	+	2	0	ZNF879	178392433	1.000000	0.71417	0.973000	0.42090	0.898000	0.52572	9.428000	0.97476	2.520000	0.84964	0.591000	0.81541	TGT	ZNF879	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000234284		0.393	ZNF879-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF879	HGNC	protein_coding	OTTHUMT00000374447.1	25	0.00	0	G	NM_001136116		178459827	178459827	+1	no_errors	ENST00000444149	ensembl	human	known	69_37n	missense	26	25.71	9	SNP	1.000	A
