#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_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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
ATG16L1	55054	genome.wustl.edu	37	2	234201936	234201936	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0C1-01B-11D-A12B-09	TCGA-BH-A0C1-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	adebc709-8059-43c3-ad0e-a102fa1536ff	5298995d-f21e-48f8-8696-0fb2e192693a	g.chr2:234201936G>A	ENST00000392017.4	+	17	1920	c.1663G>A	c.(1663-1665)Gag>Aag	p.E555K	ATG16L1_ENST00000392020.4_Missense_Mutation_p.E536K|ATG16L1_ENST00000373525.5_Missense_Mutation_p.E376K|ATG16L1_ENST00000347464.5_Missense_Mutation_p.E392K|ATG16L1_ENST00000392018.1_Missense_Mutation_p.E572K	NM_001190266.1|NM_001190267.1|NM_030803.6	NP_001177195.1|NP_001177196.1|NP_110430.5	Q676U5	A16L1_HUMAN	autophagy related 16-like 1 (S. cerevisiae)	555					autophagic vacuole assembly (GO:0000045)|negative stranded viral RNA replication (GO:0039689)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)	autophagic vacuole (GO:0005776)|autophagic vacuole membrane (GO:0000421)|axoneme (GO:0005930)	identical protein binding (GO:0042802)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(7)|prostate(3)|skin(1)	25		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539)		Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11)		AGGCTCTGCTGAGGGCTCTCT	0.527																																						dbGAP											0													130.0	123.0	125.0					2																	234201936		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK000897	CCDS2502.2, CCDS2503.2, CCDS54438.1	2q37.1	2014-02-12	2012-06-06	2005-09-13	ENSG00000085978	ENSG00000085978		"""WD repeat domain containing"""	21498	protein-coding gene	gene with protein product		610767	"""APG16 autophagy 16-like (S. cerevisiae)"", ""ATG16 autophagy related 16-like (S. cerevisiae)"", ""ATG16 autophagy related 16-like 1 (S. cerevisiae)"""	APG16L, ATG16L			Standard	NM_017974		Approved	WDR30, FLJ10035, ATG16A	uc002vty.3	Q676U5	OTTHUMG00000133619	ENST00000392017.4:c.1663G>A	2.37:g.234201936G>A	ENSP00000375872:p.Glu555Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A3EXK9|A3EXL0|B6ZDH0|Q6IPN1|Q6UXW4|Q6ZVZ5|Q8NCY2|Q96JV5|Q9H619	Missense_Mutation	SNP	pfam_Autophagy-rel_prot_16,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Prefoldin,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E555K	ENST00000392017.4	37	c.1663	CCDS2503.2	2	.	.	.	.	.	.	.	.	.	.	G	28.7	4.943519	0.92593	.	.	ENSG00000085978	ENST00000392017;ENST00000347464;ENST00000373525;ENST00000392020;ENST00000392018;ENST00000334050	T;T;T;T;T	0.59772	0.24;0.24;0.24;0.24;0.24	5.5	5.5	0.81552	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.245106	0.46758	D	0.000267	T	0.59972	0.2233	N	0.21508	0.67	0.80722	D	1	B;B;P;P;P	0.43024	0.101;0.386;0.76;0.74;0.798	B;B;P;P;P	0.51657	0.278;0.304;0.547;0.559;0.676	T	0.64271	-0.6447	10	0.87932	D	0	.	19.3983	0.94617	0.0:0.0:1.0:0.0	.	509;536;376;555;392	B7ZLM5;Q676U5-2;Q676U5-4;Q676U5;A3EXL0	.;.;.;A16L1_HUMAN;.	K	555;392;376;536;572;214	ENSP00000375872:E555K;ENSP00000318259:E392K;ENSP00000362625:E376K;ENSP00000375875:E536K;ENSP00000375873:E572K	ENSP00000334016:E214K	E	+	1	0	ATG16L1	233866675	1.000000	0.71417	0.362000	0.25862	0.698000	0.40448	9.177000	0.94849	2.578000	0.87016	0.591000	0.81541	GAG	ATG16L1	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000085978		0.527	ATG16L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATG16L1	HGNC	protein_coding	OTTHUMT00000257069.2	211	0.47	1	G	NM_017974		234201936	234201936	+1	no_errors	ENST00000392017	ensembl	human	known	69_37n	missense	124	51.75	133	SNP	0.994	A
CASZ1	54897	genome.wustl.edu	37	1	10714168	10714168	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A0C1-01B-11D-A12B-09	TCGA-BH-A0C1-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	adebc709-8059-43c3-ad0e-a102fa1536ff	5298995d-f21e-48f8-8696-0fb2e192693a	g.chr1:10714168T>C	ENST00000377022.3	-	11	2263	c.1946A>G	c.(1945-1947)tAc>tGc	p.Y649C	CASZ1_ENST00000344008.5_Missense_Mutation_p.Y649C|RP4-734G22.3_ENST00000606802.1_RNA	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	649					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		CTCGTACTTGTAGAACTTCTT	0.547																																						dbGAP											0													137.0	128.0	131.0					1																	10714168		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"""Zinc fingers, C2H2-type"""	26002	protein-coding gene	gene with protein product	"""zinc finger protein 693"", ""survival related gene"""	609895	"""castor homolog 1, zinc finger (Drosophila)"""			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.1946A>G	1.37:g.10714168T>C	ENSP00000366221:p.Tyr649Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Y649C	ENST00000377022.3	37	c.1946	CCDS41246.1	1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.257628	0.80246	.	.	ENSG00000130940	ENST00000377022;ENST00000344008	.	.	.	4.84	4.84	0.62591	.	0.232684	0.45867	D	0.000330	T	0.73992	0.3658	L	0.51422	1.61	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.995;0.997;0.999	T	0.75731	-0.3215	9	0.54805	T	0.06	-38.0654	15.1343	0.72552	0.0:0.0:0.0:1.0	.	673;649;649	B7Z1S3;Q86V15-2;Q86V15	.;.;CASZ1_HUMAN	C	649	.	ENSP00000339445:Y649C	Y	-	2	0	CASZ1	10636755	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.860000	0.69546	2.117000	0.64856	0.459000	0.35465	TAC	CASZ1	-	NULL	ENSG00000130940		0.547	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CASZ1	HGNC	protein_coding	OTTHUMT00000005673.2	191	0.52	1	T	NM_017766		10714168	10714168	-1	no_errors	ENST00000377022	ensembl	human	known	69_37n	missense	89	44.72	72	SNP	1.000	C
CACHD1	57685	genome.wustl.edu	37	1	65120486	65120486	+	Splice_Site	SNP	G	G	A			TCGA-BH-A0C1-01B-11D-A12B-09	TCGA-BH-A0C1-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	adebc709-8059-43c3-ad0e-a102fa1536ff	5298995d-f21e-48f8-8696-0fb2e192693a	g.chr1:65120486G>A	ENST00000371073.2	+	12	1782	c.1782G>A	c.(1780-1782)atG>atA	p.M594I	CACHD1_ENST00000290039.5_Splice_Site_p.M543I|CACHD1_ENST00000495994.1_3'UTR			Q5VU97	CAHD1_HUMAN	cache domain containing 1	594					calcium ion transport (GO:0006816)	integral component of membrane (GO:0016021)				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						CCTGGAAGATGGTGAGTGAGA	0.473																																						dbGAP											0													202.0	184.0	190.0					1																	65120486		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AB046793	CCDS628.2	1p31.3	2008-02-05	2005-10-11	2005-10-11	ENSG00000158966	ENSG00000158966			29314	protein-coding gene	gene with protein product			"""von Willebrand factor type A and cache domain containing 1"""	VWCD1		10997877	Standard	NM_020925		Approved	KIAA1573	uc001dbo.1	Q5VU97	OTTHUMG00000009030	ENST00000371073.2:c.1782+1G>A	1.37:g.65120486G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q49AE9|Q658T4|Q7Z3P2|Q9H7W4|Q9H9W3|Q9HCJ9	Missense_Mutation	SNP	pfam_VWA_N,pfam_Cache_domain,pfscan_VWF_A	p.M594I	ENST00000371073.2	37	c.1782		1	.	.	.	.	.	.	.	.	.	.	G	17.45	3.391530	0.62066	.	.	ENSG00000158966	ENST00000371073;ENST00000290039	T;T	0.21191	2.02;2.03	5.58	5.58	0.84498	.	0.081281	0.85682	D	0.000000	T	0.06050	0.0157	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.27536	-1.0071	10	0.21014	T	0.42	-26.0196	19.5796	0.95461	0.0:0.0:1.0:0.0	.	594	Q5VU97	CAHD1_HUMAN	I	594;543	ENSP00000360113:M594I;ENSP00000290039:M543I	ENSP00000290039:M543I	M	+	3	0	CACHD1	64893074	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.264000	0.95635	2.624000	0.88883	0.655000	0.94253	ATG	CACHD1	-	NULL	ENSG00000158966		0.473	CACHD1-201	KNOWN	basic	protein_coding	CACHD1	HGNC	protein_coding		284	0.00	0	G	NM_020925	Missense_Mutation	65120486	65120486	+1	no_errors	ENST00000371073	ensembl	human	known	69_37n	missense	126	46.41	110	SNP	1.000	A
CBLB	868	genome.wustl.edu	37	3	105397361	105397361	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0C1-01B-11D-A12B-09	TCGA-BH-A0C1-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	adebc709-8059-43c3-ad0e-a102fa1536ff	5298995d-f21e-48f8-8696-0fb2e192693a	g.chr3:105397361G>A	ENST00000264122.4	-	17	2804	c.2483C>T	c.(2482-2484)gCa>gTa	p.A828V	CBLB_ENST00000407712.1_Missense_Mutation_p.A43V|CBLB_ENST00000394027.3_Missense_Mutation_p.A806V	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	828	Pro-rich.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|negative regulation of T cell receptor signaling pathway (GO:0050860)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of T cell anergy (GO:0002669)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						ACTATGCCTTGCAGGAGGTGG	0.488			Mis S		AML																																GBM(93;588 1337 9788 29341 43499)	dbGAP		Rec	yes		3	3q13.11	868	Cas-Br-M (murine) ecotropic retroviral transforming sequence b		L	0													69.0	67.0	68.0					3																	105397361		2203	4300	6503	-	-	-	SO:0001583	missense	0			U26710	CCDS2948.1	3q	2013-07-09	2013-07-09		ENSG00000114423	ENSG00000114423		"""RING-type (C3HC4) zinc fingers"""	1542	protein-coding gene	gene with protein product		604491	"""Cas-Br-M (murine) ectropic retroviral transforming sequence b"", ""Cas-Br-M (murine) ecotropic retroviral transforming sequence b"""			7784085	Standard	XM_005247853		Approved	RNF56, Cbl-b	uc003dwc.3	Q13191	OTTHUMG00000150654	ENST00000264122.4:c.2483C>T	3.37:g.105397361G>A	ENSP00000264122:p.Ala828Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9S7|B7WNM4|Q13192|Q13193|Q3LIC0|Q63Z43|Q8IVC5	Missense_Mutation	SNP	pfam_Adaptor_Cbl_N_hlx,pfam_Adaptor_Cbl_SH2-like,pfam_Adaptor_Cbl_EF_hand-like,pfam_Znf_C3HC4_RING-type,pfam_UBA/transl_elong_EF1B_N,superfamily_Adaptor_Cbl_N_hlx,superfamily_UBA-like,smart_Znf_RING,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_RING	p.A828V	ENST00000264122.4	37	c.2483	CCDS2948.1	3	.	.	.	.	.	.	.	.	.	.	G	20.8	4.056812	0.76074	.	.	ENSG00000114423	ENST00000394030;ENST00000264122;ENST00000407712;ENST00000394027	T;D;T;D	0.83914	-1.2;-1.72;-1.13;-1.78	5.85	5.85	0.93711	.	0.172000	0.56097	D	0.000026	D	0.86053	0.5841	N	0.24115	0.695	0.80722	D	1	D;P;B	0.63880	0.993;0.702;0.325	D;B;B	0.65443	0.935;0.116;0.055	D	0.87462	0.2408	10	0.87932	D	0	-17.0783	20.1576	0.98120	0.0:0.0:1.0:0.0	.	806;828;806	E7ENW2;Q13191;B4DYP3	.;CBLB_HUMAN;.	V	167;828;43;806	ENSP00000377598:A167V;ENSP00000264122:A828V;ENSP00000384170:A43V;ENSP00000377595:A806V	ENSP00000264122:A828V	A	-	2	0	CBLB	106880051	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.081000	0.64444	2.773000	0.95371	0.650000	0.86243	GCA	CBLB	-	NULL	ENSG00000114423		0.488	CBLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBLB	HGNC	protein_coding	OTTHUMT00000319417.2	330	0.00	0	G	NM_170662		105397361	105397361	-1	no_errors	ENST00000264122	ensembl	human	known	69_37n	missense	229	14.39	39	SNP	1.000	A
CDH1	999	genome.wustl.edu	37	16	68842414	68842414	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BH-A0C1-01B-11D-A12B-09	TCGA-BH-A0C1-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	adebc709-8059-43c3-ad0e-a102fa1536ff	5298995d-f21e-48f8-8696-0fb2e192693a	g.chr16:68842414delC	ENST00000261769.5	+	4	666	c.475delC	c.(475-477)cctfs	p.P160fs	CDH1_ENST00000422392.2_Frame_Shift_Del_p.P160fs|CDH1_ENST00000562836.1_3'UTR	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	160	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to amino acid stimulus (GO:0071230)|cellular response to indole-3-methanol (GO:0071681)|cellular response to lithium ion (GO:0071285)|cochlea development (GO:0090102)|epithelial cell morphogenesis (GO:0003382)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|homophilic cell adhesion (GO:0007156)|intestinal epithelial cell development (GO:0060576)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of epithelial cell proliferation (GO:0050680)|neuron projection development (GO:0031175)|pituitary gland development (GO:0021983)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|protein metabolic process (GO:0019538)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of immune response (GO:0050776)|regulation of neuron migration (GO:2001222)|regulation of protein localization to cell surface (GO:2000008)|regulation of water loss via skin (GO:0033561)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)|salivary gland cavitation (GO:0060662)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|tight junction assembly (GO:0070830)|trophectodermal cell differentiation (GO:0001829)	actin cytoskeleton (GO:0015629)|aggresome (GO:0016235)|apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|axon terminus (GO:0043679)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell junction (GO:0030054)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|node of Ranvier (GO:0033268)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|trans-Golgi network (GO:0005802)	ankyrin binding (GO:0030506)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|gamma-catenin binding (GO:0045295)|glycoprotein binding (GO:0001948)|GTPase activating protein binding (GO:0032794)	p.?(2)|p.V157_Q177del(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		CTGGGTTATTCCTCCCATCAG	0.468			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer																													dbGAP	yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	"""cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"""		E	3	Unknown(2)|Deletion - In frame(1)	breast(2)|stomach(1)											73.0	72.0	72.0					16																	68842414		2198	4300	6498	-	-	-	SO:0001589	frameshift_variant	0	Familial Cancer Database	HDGC	L08599	CCDS10869.1	16q22.1	2014-09-17			ENSG00000039068	ENSG00000039068		"""CD molecules"", ""Cadherins / Major cadherins"""	1748	protein-coding gene	gene with protein product	"""E-Cadherin"""	192090		UVO		9925936	Standard	NM_004360		Approved	uvomorulin, CD324	uc002ewg.1	P12830	OTTHUMG00000137561	ENST00000261769.5:c.475delC	16.37:g.68842414delC	ENSP00000261769:p.Pro160fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	Frame_Shift_Del	DEL	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P159fs	ENST00000261769.5	37	c.475	CCDS10869.1	16																																																																																			CDH1	-	superfamily_Cadherin-like	ENSG00000039068		0.468	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH1	HGNC	protein_coding	OTTHUMT00000268897.2	190	0.00	0	C	NM_004360		68842414	68842414	+1	no_errors	ENST00000261769	ensembl	human	known	69_37n	frame_shift_del	137	31.88	66	DEL	1.000	-
COL17A1	1308	genome.wustl.edu	37	10	105801282	105801282	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BH-A0C1-01B-11D-A12B-09	TCGA-BH-A0C1-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	adebc709-8059-43c3-ad0e-a102fa1536ff	5298995d-f21e-48f8-8696-0fb2e192693a	g.chr10:105801282G>A	ENST00000353479.5	-	37	2856	c.2566C>T	c.(2566-2568)Caa>Taa	p.Q856*	COL17A1_ENST00000369733.3_Nonsense_Mutation_p.Q856*	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	856	Triple-helical region.			Q -> P (in Ref. 5; AAA51839). {ECO:0000305}.	cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|hemidesmosome (GO:0030056)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GGGGGACCTTGTAAATTAAGA	0.522																																						dbGAP											0													22.0	25.0	24.0					10																	105801282		2201	4299	6500	-	-	-	SO:0001587	stop_gained	0			M91669	CCDS7554.1	10q24.3	2013-01-16			ENSG00000065618	ENSG00000065618		"""Collagens"""	2194	protein-coding gene	gene with protein product		113811		BPAG2		7916703	Standard	NM_000494		Approved	BP180	uc001kxr.3	Q9UMD9	OTTHUMG00000018998	ENST00000353479.5:c.2566C>T	10.37:g.105801282G>A	ENSP00000340937:p.Gln856*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	Nonsense_Mutation	SNP	pfam_Collagen	p.Q856*	ENST00000353479.5	37	c.2566	CCDS7554.1	10	.	.	.	.	.	.	.	.	.	.	G	41	9.093820	0.99064	.	.	ENSG00000065618	ENST00000353479;ENST00000369733	.	.	.	4.66	4.66	0.58398	.	0.201193	0.24436	N	0.038558	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	-4.4314	13.4278	0.61037	0.0:0.0:1.0:0.0	.	.	.	.	X	856	.	ENSP00000340937:Q856X	Q	-	1	0	COL17A1	105791272	1.000000	0.71417	1.000000	0.80357	0.816000	0.46133	3.649000	0.54417	2.638000	0.89438	0.491000	0.48974	CAA	COL17A1	-	NULL	ENSG00000065618		0.522	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL17A1	HGNC	protein_coding	OTTHUMT00000050181.1	82	0.00	0	G	NM_130778, NM_000494		105801282	105801282	-1	no_errors	ENST00000353479	ensembl	human	known	69_37n	nonsense	70	15.66	13	SNP	1.000	A
DNM1P46	196968	genome.wustl.edu	37	15	100340097	100340097	+	RNA	SNP	C	C	T	rs200645530	byFrequency	TCGA-BH-A0C1-01B-11D-A12B-09	TCGA-BH-A0C1-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	adebc709-8059-43c3-ad0e-a102fa1536ff	5298995d-f21e-48f8-8696-0fb2e192693a	g.chr15:100340097C>T	ENST00000341853.1	-	0	829					NR_003260.1		Q6ZS02	DMP46_HUMAN	DNM1 pseudogene 46							microtubule (GO:0005874)	GTPase activity (GO:0003924)										TGTCCCTACGCGAGTGCAGGT	0.592																																						dbGAP											0													22.0	21.0	21.0					15																	100340097		1555	3581	5136	-	-	-			0			AJ576275		15q26.3	2013-04-25			ENSG00000182397	ENSG00000182397			35199	pseudogene	pseudogene			"""chromosome 15 open reading frame 51"""	DNM1DN14@, C15orf51			Standard	NR_003260		Approved	DNM1DN14.2, FLJ45937, DKFZp434I1020	uc021sxl.1	Q6ZS02	OTTHUMG00000149852		15.37:g.100340097C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q3ZCN3	RNA	SNP	-	NULL	ENST00000341853.1	37	NULL		15																																																																																			DNM1P46	-	-	ENSG00000182397		0.592	DNM1P46-002	KNOWN	basic	processed_transcript	DNM1P46	HGNC	pseudogene	OTTHUMT00000313543.1	12	0.00	0	C	NR_003260		100340097	100340097	-1	no_errors	ENST00000341853	ensembl	human	known	69_37n	rna	8	46.67	7	SNP	0.994	T
DNM1P46	196968	genome.wustl.edu	37	15	100340123	100340125	+	RNA	DEL	AGA	AGA	-	rs368425453		TCGA-BH-A0C1-01B-11D-A12B-09	TCGA-BH-A0C1-10A-01D-A12B-09	AGA	AGA					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	adebc709-8059-43c3-ad0e-a102fa1536ff	5298995d-f21e-48f8-8696-0fb2e192693a	g.chr15:100340123_100340125delAGA	ENST00000341853.1	-	0	801_803					NR_003260.1		Q6ZS02	DMP46_HUMAN	DNM1 pseudogene 46							microtubule (GO:0005874)	GTPase activity (GO:0003924)										AGCAGCTCCGAGAAGATGAACTC	0.611																																						dbGAP											0																																										-	-	-			0			AJ576275		15q26.3	2013-04-25			ENSG00000182397	ENSG00000182397			35199	pseudogene	pseudogene			"""chromosome 15 open reading frame 51"""	DNM1DN14@, C15orf51			Standard	NR_003260		Approved	DNM1DN14.2, FLJ45937, DKFZp434I1020	uc021sxl.1	Q6ZS02	OTTHUMG00000149852		15.37:g.100340126_100340128delAGA		Somatic		WXS	Illumina GAIIx	Phase_IV	Q3ZCN3	RNA	DEL	-	NULL	ENST00000341853.1	37	NULL		15																																																																																			DNM1P46	-	-	ENSG00000182397		0.611	DNM1P46-002	KNOWN	basic	processed_transcript	DNM1P46	HGNC	pseudogene	OTTHUMT00000313543.1	9	0.00	0	AGA	NR_003260		100340123	100340125	-1	no_errors	ENST00000341853	ensembl	human	known	69_37n	rna	11	35.29	6	DEL	0.899:0.883:0.880	-
EEF1D	1936	genome.wustl.edu	37	8	144662795	144662795	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0C1-01B-11D-A12B-09	TCGA-BH-A0C1-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	adebc709-8059-43c3-ad0e-a102fa1536ff	5298995d-f21e-48f8-8696-0fb2e192693a	g.chr8:144662795C>T	ENST00000529272.1	-	6	893	c.493G>A	c.(493-495)Gag>Aag	p.E165K	EEF1D_ENST00000532400.1_Intron|EEF1D_ENST00000526838.1_Missense_Mutation_p.E146K|EEF1D_ENST00000317198.6_Missense_Mutation_p.E165K|EEF1D_ENST00000528610.1_Missense_Mutation_p.E141K|NAPRT1_ENST00000426292.3_5'Flank|EEF1D_ENST00000423316.2_Missense_Mutation_p.E531K|EEF1D_ENST00000524624.1_Missense_Mutation_p.E141K|RP11-661A12.7_ENST00000529247.1_RNA|EEF1D_ENST00000395119.3_Missense_Mutation_p.E165K|EEF1D_ENST00000532741.1_Missense_Mutation_p.E581K|NAPRT1_ENST00000276844.7_5'Flank|EEF1D_ENST00000419152.2_Missense_Mutation_p.E165K|EEF1D_ENST00000442189.2_Missense_Mutation_p.E531K|NAPRT1_ENST00000435154.3_5'Flank|EEF1D_ENST00000531621.1_Missense_Mutation_p.E122K|NAPRT1_ENST00000449291.2_5'Flank			P29692	EF1D_HUMAN	eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)	165					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)|translation elongation factor activity (GO:0003746)|translation factor activity, nucleic acid binding (GO:0008135)			breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			TCCTCCTCCTCATTGTCACTG	0.602																																						dbGAP											0													126.0	109.0	115.0					8																	144662795		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK024550	CCDS6404.1, CCDS6405.1, CCDS47930.1, CCDS56559.1	8q24	2011-09-15			ENSG00000104529	ENSG00000104529			3211	protein-coding gene	gene with protein product		130592				8334168	Standard	NM_001960		Approved	EF-1D, FLJ20897	uc003yyt.3	P29692	OTTHUMG00000165191	ENST00000529272.1:c.493G>A	8.37:g.144662795C>T	ENSP00000434872:p.Glu165Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DDU4|D3DWK3|E9PBQ9|Q4VBZ6|Q969J1|Q96I38	Missense_Mutation	SNP	pfam_Transl_elong_fac_EF1B_bsu/dsu,pfam_EF-1_beta_acid_region_euk,superfamily_Transl_elong_fac_EF1B_bsu/dsu,smart_Transl_elong_fac_EF1B_bsu/dsu	p.E531K	ENST00000529272.1	37	c.1591	CCDS6405.1	8	.	.	.	.	.	.	.	.	.	.	C	34	5.336249	0.95758	.	.	ENSG00000104529	ENST00000419152;ENST00000529576;ENST00000532741;ENST00000526838;ENST00000442189;ENST00000528610;ENST00000395119;ENST00000529272;ENST00000423316;ENST00000356793;ENST00000317198;ENST00000337369;ENST00000531621;ENST00000524624;ENST00000534380;ENST00000534377;ENST00000533204;ENST00000530191;ENST00000531218;ENST00000533494;ENST00000530445	.	.	.	4.62	4.62	0.57501	Elongation factor 1 beta central acidic region, eukaryote (1);	0.126543	0.50627	D	0.000107	D	0.86058	0.5842	H	0.94925	3.6	0.58432	D	0.999998	B;P;D;B;D;P	0.60575	0.35;0.752;0.985;0.04;0.988;0.811	B;P;P;B;D;B	0.67900	0.443;0.56;0.828;0.075;0.954;0.425	D	0.90232	0.4280	9	0.66056	D	0.02	.	16.8093	0.85715	0.0:1.0:0.0:0.0	.	146;531;459;165;581;531	E9PBQ9;D3DWK1;F8W934;P29692;E9PRY8;P29692-2	.;.;.;EF1D_HUMAN;.;.	K	165;5;581;146;531;141;165;165;531;459;165;531;122;141;165;141;165;165;165;165;165	.	ENSP00000317399:E165K	E	-	1	0	EEF1D	144733938	1.000000	0.71417	0.954000	0.39281	0.938000	0.57974	7.683000	0.84093	2.291000	0.77112	0.313000	0.20887	GAG	EEF1D	-	pfam_EF-1_beta_acid_region_euk	ENSG00000104529		0.602	EEF1D-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	EEF1D	HGNC	protein_coding	OTTHUMT00000382592.2	138	0.00	0	C	NM_032378		144662795	144662795	-1	no_errors	ENST00000423316	ensembl	human	known	69_37n	missense	86	35.77	49	SNP	1.000	T
ERBB2	2064	genome.wustl.edu	37	17	37881000	37881000	+	Missense_Mutation	SNP	G	G	C	rs121913471		TCGA-BH-A0C1-01B-11D-A12B-09	TCGA-BH-A0C1-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	adebc709-8059-43c3-ad0e-a102fa1536ff	5298995d-f21e-48f8-8696-0fb2e192693a	g.chr17:37881000G>C	ENST00000269571.5	+	20	2488	c.2329G>C	c.(2329-2331)Gtg>Ctg	p.V777L	ERBB2_ENST00000445658.2_Missense_Mutation_p.V501L|ERBB2_ENST00000584601.1_Missense_Mutation_p.V747L|ERBB2_ENST00000584450.1_Missense_Mutation_p.V777L|MIR4728_ENST00000580969.1_RNA|ERBB2_ENST00000541774.1_Missense_Mutation_p.V762L|ERBB2_ENST00000406381.2_Missense_Mutation_p.V747L|ERBB2_ENST00000540147.1_Missense_Mutation_p.V747L			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	777	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)	p.V777L(6)|p.V777M(1)		NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	GATGGCTGGTGTGGGCTCCCC	0.577		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)																												dbGAP		Dom	yes		17	17q21.1	2064	"""v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"""		E	7	Substitution - Missense(7)	large_intestine(3)|stomach(2)|lung(1)|breast(1)											91.0	90.0	90.0					17																	37881000		2203	4300	6503	-	-	-	SO:0001583	missense	0			X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"""CD molecules"""	3430	protein-coding gene	gene with protein product	"""neuro/glioblastoma derived oncogene homolog"""	164870	"""v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"""	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.2329G>C	17.37:g.37881000G>C	ENSP00000269571:p.Val777Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.V777L	ENST00000269571.5	37	c.2329	CCDS32642.1	17	.	.	.	.	.	.	.	.	.	.	G	16.45	3.126044	0.56721	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000445658;ENST00000269571;ENST00000540147	T;T;T;T;T	0.56611	0.45;0.45;0.45;0.45;0.45	5.3	5.3	0.74995	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.19485	0.0468	N	0.00165	-1.945	0.80722	D	1	B;B;B	0.13594	0.003;0.001;0.008	B;B;B	0.15484	0.013;0.002;0.013	T	0.30475	-0.9977	9	0.18710	T	0.47	.	18.5686	0.91126	0.0:0.0:1.0:0.0	.	501;762;777	B4DTR1;P04626-4;P04626	.;.;ERBB2_HUMAN	L	747;762;501;777;747	ENSP00000385185:V747L;ENSP00000446466:V762L;ENSP00000404047:V501L;ENSP00000269571:V777L;ENSP00000443562:V747L	ENSP00000269571:V777L	V	+	1	0	ERBB2	35134526	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.847000	0.99503	2.478000	0.83669	0.563000	0.77884	GTG	ERBB2	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000141736		0.577	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	ERBB2	HGNC	protein_coding	OTTHUMT00000445621.2	118	0.00	0	G			37881000	37881000	+1	no_errors	ENST00000269571	ensembl	human	known	69_37n	missense	77	37.40	46	SNP	1.000	C
FBXO18	84893	genome.wustl.edu	37	10	5945053	5945053	+	Silent	SNP	G	G	A			TCGA-BH-A0C1-01B-11D-A12B-09	TCGA-BH-A0C1-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	adebc709-8059-43c3-ad0e-a102fa1536ff	5298995d-f21e-48f8-8696-0fb2e192693a	g.chr10:5945053G>A	ENST00000362091.4	+	2	187	c.72G>A	c.(70-72)gtG>gtA	p.V24V	FBXO18_ENST00000379999.5_Silent_p.V75V|FBXO18_ENST00000397269.3_5'UTR|FBXO18_ENST00000470089.1_Intron	NM_001258453.1|NM_178150.2	NP_001245382.1|NP_835363.1	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	24					DNA catabolic process, endonucleolytic (GO:0000737)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of protein phosphorylation (GO:0001934)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						ACTTGGCTGTGACCCAGCCCT	0.493																																						dbGAP											0													99.0	88.0	92.0					10																	5945053		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK095343	CCDS7072.1, CCDS7073.1, CCDS73064.1	10p15.1	2004-08-24	2004-06-15		ENSG00000134452	ENSG00000134452		"""F-boxes /  ""other"""""	13620	protein-coding gene	gene with protein product		607222	"""F-box only protein 18"""			10531037, 11956208	Standard	NM_032807		Approved	FBH1, FLJ14590, Fbx18	uc001iit.4	Q8NFZ0	OTTHUMG00000017609	ENST00000362091.4:c.72G>A	10.37:g.5945053G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JVB0|Q5JVB1|Q7Z4Q6|Q7Z4R0|Q8N1P5|Q8N586|Q96E82|Q96K67|Q96SW7|Q9UFB2	Silent	SNP	pfam_UvrD-like_ATP-bd,pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like	p.V75	ENST00000362091.4	37	c.225	CCDS7072.1	10																																																																																			FBXO18	-	NULL	ENSG00000134452		0.493	FBXO18-009	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO18	HGNC	protein_coding	OTTHUMT00000046596.1	107	0.00	0	G	NM_032807		5945053	5945053	+1	no_errors	ENST00000379999	ensembl	human	known	69_37n	silent	108	17.42	23	SNP	0.989	A
GRID2IP	392862	genome.wustl.edu	37	7	6541690	6541690	+	Silent	SNP	C	C	T			TCGA-BH-A0C1-01B-11D-A12B-09	TCGA-BH-A0C1-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	adebc709-8059-43c3-ad0e-a102fa1536ff	5298995d-f21e-48f8-8696-0fb2e192693a	g.chr7:6541690C>T	ENST00000457091.2	-	19	3209	c.3210G>A	c.(3208-3210)tcG>tcA	p.S1070S	GRID2IP_ENST00000435185.1_Silent_p.S886S|GRID2IP_ENST00000452113.1_Silent_p.S879S	NM_001145118.1	NP_001138590.1	A4D2P6	GRD2I_HUMAN	glutamate receptor, ionotropic, delta 2 (Grid2) interacting protein	1070	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				long term synaptic depression (GO:0060292)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)				endometrium(4)	4						GCTGGCTCAGCGATTTGGCAA	0.587																																						dbGAP											0													96.0	95.0	95.0					7																	6541690		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0				CCDS47537.1	7p22	2007-10-05	2006-03-01		ENSG00000215045	ENSG00000215045			18464	protein-coding gene	gene with protein product		610639	"""glutamate receptor, ionotropic, delta 2 (Grid2) interacting protein 1"""			14612983	Standard	NM_001145118		Approved		uc011jwx.2	A4D2P6	OTTHUMG00000155531	ENST00000457091.2:c.3210G>A	7.37:g.6541690C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_FH2_actin-bd,pfam_PDZ,superfamily_FH2_actin-bd,superfamily_PDZ,smart_PDZ,smart_Actin-bd_FH2/DRF_autoreg,pfscan_PDZ	p.S1070	ENST00000457091.2	37	c.3210	CCDS47537.1	7																																																																																			GRID2IP	-	pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg	ENSG00000215045		0.587	GRID2IP-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	GRID2IP	HGNC	protein_coding	OTTHUMT00000340534.1	93	0.00	0	C	XM_294249		6541690	6541690	-1	no_errors	ENST00000457091	ensembl	human	putative	69_37n	silent	99	12.28	14	SNP	0.786	T
HECW1	23072	genome.wustl.edu	37	7	43484146	43484146	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A0C1-01B-11D-A12B-09	TCGA-BH-A0C1-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	adebc709-8059-43c3-ad0e-a102fa1536ff	5298995d-f21e-48f8-8696-0fb2e192693a	g.chr7:43484146G>T	ENST00000395891.2	+	11	1980	c.1375G>T	c.(1375-1377)Gcc>Tcc	p.A459S	HECW1_ENST00000453890.1_Missense_Mutation_p.A459S	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	459	Glu-rich.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						AGAAGAGCTGGCCGAGCAGCT	0.642																																						dbGAP											0													15.0	18.0	17.0					7																	43484146		2091	4226	6317	-	-	-	SO:0001583	missense	0			AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.1375G>T	7.37:g.43484146G>T	ENSP00000379228:p.Ala459Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Missense_Mutation	SNP	pfam_HECT,pfam_WW_Rsp5_WWP,pfam_C2_Ca-dep,superfamily_HECT,superfamily_WW_Rsp5_WWP,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_C2_membr_targeting,pfscan_WW_Rsp5_WWP	p.A459S	ENST00000395891.2	37	c.1375	CCDS5469.2	7	.	.	.	.	.	.	.	.	.	.	G	16.49	3.139169	0.56936	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	T;T	0.32988	1.43;1.43	5.27	5.27	0.74061	.	4.148950	0.00531	N	0.000202	T	0.34861	0.0912	L	0.46157	1.445	0.09310	N	1	B;B	0.27229	0.172;0.172	B;B	0.22386	0.039;0.039	T	0.32666	-0.9898	10	0.34782	T	0.22	.	13.5813	0.61905	0.0773:0.0:0.9227:0.0	.	459;459	B4DH42;Q76N89	.;HECW1_HUMAN	S	459	ENSP00000379228:A459S;ENSP00000407774:A459S	ENSP00000265522:A459S	A	+	1	0	HECW1	43450671	0.006000	0.16342	0.187000	0.23214	0.923000	0.55619	1.360000	0.34125	2.610000	0.88304	0.561000	0.74099	GCC	HECW1	-	NULL	ENSG00000002746		0.642	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HECW1	HGNC	protein_coding	OTTHUMT00000250893.2	38	0.00	0	G	NM_015052		43484146	43484146	+1	no_errors	ENST00000395891	ensembl	human	known	69_37n	missense	35	30.00	15	SNP	0.073	T
HIST2H2BE	8349	genome.wustl.edu	37	1	149858180	149858180	+	Missense_Mutation	SNP	G	G	A	rs141403958	byFrequency	TCGA-BH-A0C1-01B-11D-A12B-09	TCGA-BH-A0C1-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	adebc709-8059-43c3-ad0e-a102fa1536ff	5298995d-f21e-48f8-8696-0fb2e192693a	g.chr1:149858180G>A	ENST00000369155.2	-	1	52	c.11C>T	c.(10-12)cCg>cTg	p.P4L	HIST2H2AC_ENST00000331380.2_5'Flank|BOLA1_ENST00000369153.2_5'Flank	NM_003528.2	NP_003519.1	Q16778	H2B2E_HUMAN	histone cluster 2, H2be	4					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.P4L(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	14	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			GGATTTTGCCGGTTCAGGCAT	0.507																																						dbGAP											1	Substitution - Missense(1)	lung(1)											55.0	57.0	56.0					1																	149858180		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY131979	CCDS936.1	1q21.2	2011-01-27	2006-10-11	2003-03-07	ENSG00000184678	ENSG00000184678		"""Histones / Replication-dependent"""	4760	protein-coding gene	gene with protein product		601831	"""H2B histone family, member Q"", ""histone 2, H2be"""	H2B, H2BFQ		1469070, 12408966	Standard	NM_003528		Approved	H2B/q, H2B.1	uc001etc.3	Q16778	OTTHUMG00000012095	ENST00000369155.2:c.11C>T	1.37:g.149858180G>A	ENSP00000358151:p.Pro4Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A3KMC7|A8K110|Q4KMY1|Q5QNX0|Q9UE88	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	p.P4L	ENST00000369155.2	37	c.11	CCDS936.1	1	.	.	.	.	.	.	.	.	.	.	G	15.41	2.826004	0.50739	.	.	ENSG00000184678	ENST00000369155	T	0.18960	2.18	5.99	5.07	0.68467	Histone-fold (1);	0.000000	0.85682	D	0.000000	T	0.09730	0.0239	L	0.47078	1.49	0.42436	D	0.992691	B	0.19583	0.037	B	0.04013	0.001	T	0.03993	-1.0986	10	0.38643	T	0.18	.	13.1685	0.59585	0.078:0.0:0.922:0.0	.	4	Q16778	H2B2E_HUMAN	L	4	ENSP00000358151:P4L	ENSP00000358151:P4L	P	-	2	0	HIST2H2BE	148124804	1.000000	0.71417	0.957000	0.39632	0.957000	0.61999	6.451000	0.73481	1.525000	0.49052	0.650000	0.86243	CCG	HIST2H2BE	-	NULL	ENSG00000184678		0.507	HIST2H2BE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST2H2BE	HGNC	protein_coding	OTTHUMT00000033455.1	287	0.00	0	G	NM_003528		149858180	149858180	-1	no_errors	ENST00000369155	ensembl	human	known	69_37n	missense	231	60.00	348	SNP	0.997	A
IARS	3376	genome.wustl.edu	37	9	95027830	95027830	+	Silent	SNP	T	T	A			TCGA-BH-A0C1-01B-11D-A12B-09	TCGA-BH-A0C1-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	adebc709-8059-43c3-ad0e-a102fa1536ff	5298995d-f21e-48f8-8696-0fb2e192693a	g.chr9:95027830T>A	ENST00000375643.3	-	15	1703	c.1437A>T	c.(1435-1437)gtA>gtT	p.V479V	IARS_ENST00000443024.2_Silent_p.V479V|IARS_ENST00000375629.3_5'UTR|IARS_ENST00000447699.2_Silent_p.V369V	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	479					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|osteoblast differentiation (GO:0001649)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	ACCCAATGCATACCACCTGTC	0.413																																						dbGAP											0													130.0	125.0	127.0					9																	95027830		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB209234	CCDS6694.1	9q21	2011-07-01	2007-02-26		ENSG00000196305	ENSG00000196305	6.1.1.5	"""Aminoacyl tRNA synthetases / Class I"""	5330	protein-coding gene	gene with protein product	"""isoleucine tRNA ligase 1, cytoplasmic"""	600709				8812440	Standard	NM_002161		Approved	ILRS, IARS1	uc004aru.4	P41252	OTTHUMG00000020219	ENST00000375643.3:c.1437A>T	9.37:g.95027830T>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8KAE9|Q5TCD0|Q7Z3T4|Q9H588	Silent	SNP	pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Methionyl/Leucyl_tRNA_Synth,superfamily_Val/Leu/Ile-tRNA-synth_edit,superfamily_tRNAsynth_1a_anticodon-bd,prints_Ile-tRNA-synt,tigrfam_Ile-tRNA-synt	p.V479	ENST00000375643.3	37	c.1437	CCDS6694.1	9																																																																																			IARS	-	pfam_aa-tRNA-synth_Ia,tigrfam_Ile-tRNA-synt	ENSG00000196305		0.413	IARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IARS	HGNC	protein_coding	OTTHUMT00000053059.2	224	0.00	0	T	NM_002161		95027830	95027830	-1	no_errors	ENST00000375643	ensembl	human	known	69_37n	silent	267	19.82	66	SNP	0.628	A
MAGEA12	4111	genome.wustl.edu	37	X	151899975	151899975	+	Silent	SNP	T	T	G			TCGA-BH-A0C1-01B-11D-A12B-09	TCGA-BH-A0C1-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	adebc709-8059-43c3-ad0e-a102fa1536ff	5298995d-f21e-48f8-8696-0fb2e192693a	g.chrX:151899975T>G	ENST00000357916.4	-	2	981	c.826A>C	c.(826-828)Agg>Cgg	p.R276R	MAGEA12_ENST00000393900.3_Silent_p.R276R|CSAG4_ENST00000361201.4_RNA|MAGEA12_ENST00000393869.3_Silent_p.R276R	NM_005367.5	NP_005358.2	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	276	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					ACGAGGGCCCTTGGACCCCAC	0.542																																						dbGAP											0													165.0	157.0	160.0					X																	151899975		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS76048.1	Xq28	2009-03-13			ENSG00000213401	ENSG00000213401			6799	protein-coding gene	gene with protein product	"""cancer/testis antigen family 1, member 12"""	300177		MAGE12		8575766	Standard	NM_001166386		Approved	CT1.12	uc004fgc.3	P43365	OTTHUMG00000022650	ENST00000357916.4:c.826A>C	X.37:g.151899975T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9NSD3	Silent	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.R276	ENST00000357916.4	37	c.826	CCDS14710.1	X																																																																																			MAGEA12	-	pfam_MAGE,pfscan_MAGE	ENSG00000213401		0.542	MAGEA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEA12	HGNC	protein_coding	OTTHUMT00000058764.1	386	0.00	0	T	NM_005367		151899975	151899975	-1	no_errors	ENST00000357916	ensembl	human	known	69_37n	silent	366	15.21	66	SNP	0.401	G
MAN2A1	4124	genome.wustl.edu	37	5	109183450	109183450	+	Silent	SNP	C	C	T			TCGA-BH-A0C1-01B-11D-A12B-09	TCGA-BH-A0C1-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	adebc709-8059-43c3-ad0e-a102fa1536ff	5298995d-f21e-48f8-8696-0fb2e192693a	g.chr5:109183450C>T	ENST00000261483.4	+	19	3987	c.2935C>T	c.(2935-2937)Cta>Tta	p.L979L		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	979					cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|lung alveolus development (GO:0048286)|mannose metabolic process (GO:0006013)|mitochondrion organization (GO:0007005)|N-glycan processing (GO:0006491)|positive regulation of neurogenesis (GO:0050769)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|respiratory gaseous exchange (GO:0007585)|retina morphogenesis in camera-type eye (GO:0060042)|vacuole organization (GO:0007033)	cis-Golgi network (GO:0005801)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		TACAGCTAATCTATTTCGAAT	0.353																																						dbGAP											0													107.0	100.0	102.0					5																	109183450		2199	4299	6498	-	-	-	SO:0001819	synonymous_variant	0				CCDS34209.1	5q21.3	2013-09-20			ENSG00000112893	ENSG00000112893	3.2.1.114		6824	protein-coding gene	gene with protein product	"""golgi integral membrane protein 7"""	154582		MANA2		1757461, 15004235	Standard	NM_002372		Approved	GOLIM7	uc003kou.1	Q16706	OTTHUMG00000162834	ENST00000261483.4:c.2935C>T	5.37:g.109183450C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q16767	Silent	SNP	pfam_Glyco_hydro_38_core,pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_cen_dom,superfamily_Glyco_hydro-type_carb-bd,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom	p.L979	ENST00000261483.4	37	c.2935	CCDS34209.1	5																																																																																			MAN2A1	-	pfam_Glyco_hydro_38_C,superfamily_Glyco_hydro-type_carb-bd	ENSG00000112893		0.353	MAN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAN2A1	HGNC	protein_coding	OTTHUMT00000370680.1	276	0.00	0	C			109183450	109183450	+1	no_errors	ENST00000261483	ensembl	human	known	69_37n	silent	260	28.76	107	SNP	1.000	T
MID1	4281	genome.wustl.edu	37	X	10534972	10534972	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0C1-01B-11D-A12B-09	TCGA-BH-A0C1-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	adebc709-8059-43c3-ad0e-a102fa1536ff	5298995d-f21e-48f8-8696-0fb2e192693a	g.chrX:10534972C>T	ENST00000317552.4	-	2	1016	c.616G>A	c.(616-618)Gat>Aat	p.D206N	MID1_ENST00000380780.1_Missense_Mutation_p.D206N|MID1_ENST00000380782.2_Missense_Mutation_p.D206N|MID1_ENST00000453318.2_Missense_Mutation_p.D206N|MID1_ENST00000380785.1_Missense_Mutation_p.D206N|MID1_ENST00000380787.1_Missense_Mutation_p.D206N|MID1_ENST00000380779.1_Missense_Mutation_p.D206N	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN	midline 1	206					microtubule cytoskeleton organization (GO:0000226)|negative regulation of microtubule depolymerization (GO:0007026)|pattern specification process (GO:0007389)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein localization to microtubule (GO:0035372)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	ligase activity (GO:0016874)|microtubule binding (GO:0008017)|phosphoprotein binding (GO:0051219)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						ACCTGATGATCGCGGTGCCGC	0.488																																						dbGAP											0													104.0	83.0	90.0					X																	10534972		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y13667	CCDS14138.1, CCDS75952.1, CCDS75953.1	Xp22	2014-06-18	2014-06-18		ENSG00000101871	ENSG00000101871		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	7095	protein-coding gene	gene with protein product	"""Opitz/BBB syndrome"""	300552				9354791, 9425238	Standard	NM_001098624		Approved	OS, FXY, TRIM18, RNF59	uc004cti.4	O15344	OTTHUMG00000021127	ENST00000317552.4:c.616G>A	X.37:g.10534972C>T	ENSP00000312678:p.Asp206Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RCG2|O75361|Q9BZX5	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.D206N	ENST00000317552.4	37	c.616	CCDS14138.1	X	.	.	.	.	.	.	.	.	.	.	C	20.3	3.975322	0.74360	.	.	ENSG00000101871	ENST00000453318;ENST00000317552;ENST00000380785;ENST00000380779;ENST00000380787;ENST00000380780;ENST00000380782;ENST00000413894	T;T;T;T;T;T;T;T	0.56941	0.43;0.43;0.43;0.43;0.43;0.43;0.43;0.43	5.64	5.64	0.86602	Zinc finger, B-box (3);	0.043334	0.85682	D	0.000000	T	0.38161	0.1030	N	0.24115	0.695	0.80722	D	1	P;B;B	0.38195	0.622;0.369;0.096	B;B;B	0.33750	0.169;0.093;0.046	T	0.21484	-1.0244	10	0.12430	T	0.62	.	18.7983	0.92005	0.0:1.0:0.0:0.0	.	206;206;206	C9J453;O15344-2;O15344	.;.;TRI18_HUMAN	N	206	ENSP00000414521:D206N;ENSP00000312678:D206N;ENSP00000370162:D206N;ENSP00000370156:D206N;ENSP00000370164:D206N;ENSP00000370157:D206N;ENSP00000370159:D206N;ENSP00000391154:D206N	ENSP00000312678:D206N	D	-	1	0	MID1	10494972	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.663000	0.83820	2.386000	0.81285	0.600000	0.82982	GAT	MID1	-	pfam_Znf_B-box,smart_Znf_B-box,pfscan_Znf_B-box	ENSG00000101871		0.488	MID1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	MID1	HGNC	protein_coding	OTTHUMT00000055738.1	151	0.00	0	C			10534972	10534972	-1	no_errors	ENST00000317552	ensembl	human	known	69_37n	missense	144	20.88	38	SNP	1.000	T
OR4S2	219431	genome.wustl.edu	37	11	55418854	55418854	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0C1-01B-11D-A12B-09	TCGA-BH-A0C1-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	adebc709-8059-43c3-ad0e-a102fa1536ff	5298995d-f21e-48f8-8696-0fb2e192693a	g.chr11:55418854G>A	ENST00000312422.2	+	1	475	c.475G>A	c.(475-477)Gct>Act	p.A159T		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	159						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				TATCCAAGTGGCTCTGGTAGT	0.428																																						dbGAP											0													224.0	176.0	192.0					11																	55418854		2181	4037	6218	-	-	-	SO:0001583	missense	0			BK004390	CCDS31505.1	11q11	2012-08-09	2002-11-13	2002-11-15	ENSG00000174982	ENSG00000174982		"""GPCR / Class A : Olfactory receptors"""	15183	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily S, member 2 pseudogene"""	OR4S2P			Standard	NM_001004059		Approved	OST725	uc001nhs.1	Q8NH73	OTTHUMG00000166799	ENST00000312422.2:c.475G>A	11.37:g.55418854G>A	ENSP00000310337:p.Ala159Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IF72	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.A159T	ENST00000312422.2	37	c.475	CCDS31505.1	11	.	.	.	.	.	.	.	.	.	.	G	13.35	2.212188	0.39102	.	.	ENSG00000174982	ENST00000312422	T	0.37584	1.19	5.35	1.28	0.21552	GPCR, rhodopsin-like superfamily (1);	0.118865	0.37623	N	0.002007	T	0.20007	0.0481	N	0.20401	0.57	0.09310	N	1	B	0.22800	0.075	B	0.23150	0.044	T	0.16276	-1.0408	10	0.87932	D	0	.	5.0832	0.14668	0.2473:0.281:0.4716:0.0	.	159	Q8NH73	OR4S2_HUMAN	T	159	ENSP00000310337:A159T	ENSP00000310337:A159T	A	+	1	0	OR4S2	55175430	0.000000	0.05858	0.668000	0.29813	0.996000	0.88848	-2.845000	0.00735	0.239000	0.21243	0.542000	0.68232	GCT	OR4S2	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam	ENSG00000174982		0.428	OR4S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4S2	HGNC	protein_coding	OTTHUMT00000391503.1	254	0.00	0	G	NM_001004059		55418854	55418854	+1	no_errors	ENST00000312422	ensembl	human	known	69_37n	missense	159	37.65	96	SNP	0.000	A
PCNT	5116	genome.wustl.edu	37	21	47836277	47836277	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0C1-01B-11D-A12B-09	TCGA-BH-A0C1-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	adebc709-8059-43c3-ad0e-a102fa1536ff	5298995d-f21e-48f8-8696-0fb2e192693a	g.chr21:47836277G>A	ENST00000359568.5	+	30	6552	c.6445G>A	c.(6445-6447)Gcg>Acg	p.A2149T	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2149					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GGCCATAGACGCGTGTGATGC	0.453																																						dbGAP											0													90.0	96.0	94.0					21																	47836277		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.6445G>A	21.37:g.47836277G>A	ENSP00000352572:p.Ala2149Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	O43152|Q7Z7C9	Missense_Mutation	SNP	pfam_PACT_domain	p.A2149T	ENST00000359568.5	37	c.6445	CCDS33592.1	21	.	.	.	.	.	.	.	.	.	.	G	6.716	0.500799	0.12822	.	.	ENSG00000160299	ENST00000359568	T	0.01516	4.81	0.919	-1.05	0.10036	.	.	.	.	.	T	0.00845	0.0028	N	0.08118	0	0.09310	N	1	B;B	0.26935	0.164;0.102	B;B	0.13407	0.009;0.004	T	0.48127	-0.9062	9	0.13108	T	0.6	.	3.753	0.08573	0.3438:0.0:0.6562:0.0	.	2031;2149	O95613-2;O95613	.;PCNT_HUMAN	T	2149	ENSP00000352572:A2149T	ENSP00000352572:A2149T	A	+	1	0	PCNT	46660705	0.084000	0.21492	0.006000	0.13384	0.060000	0.15804	0.031000	0.13710	-0.463000	0.06973	0.121000	0.15741	GCG	PCNT	-	NULL	ENSG00000160299		0.453	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNT	HGNC	protein_coding	OTTHUMT00000207336.1	130	0.00	0	G	NM_006031		47836277	47836277	+1	no_errors	ENST00000359568	ensembl	human	known	69_37n	missense	131	14.84	23	SNP	0.002	A
PLEKHA8P1	51054	genome.wustl.edu	37	12	45567613	45567613	+	RNA	SNP	C	C	A	rs375108703		TCGA-BH-A0C1-01B-11D-A12B-09	TCGA-BH-A0C1-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	adebc709-8059-43c3-ad0e-a102fa1536ff	5298995d-f21e-48f8-8696-0fb2e192693a	g.chr12:45567613C>A	ENST00000256692.5	-	0	1072					NR_037144.1		O95397	PKHA9_HUMAN	pleckstrin homology domain containing, family A member 8 pseudogene 1							cytoplasm (GO:0005737)	glycolipid binding (GO:0051861)|glycolipid transporter activity (GO:0017089)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TTCTGGAGAGCAACTTGAGTC	0.393																																						dbGAP											0													189.0	178.0	182.0					12																	45567613		2203	4300	6503	-	-	-			0			AF103731		12q12	2010-11-24	2010-11-24	2010-11-24	ENSG00000134297	ENSG00000134297			30222	pseudogene	pseudogene	"""putative glycolipid transfer protein"""		"""pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 9"""	PLEKHA9		12477932	Standard	NR_037144		Approved	FLJ14156	uc001rom.2	O95397			12.37:g.45567613C>A		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000256692.5	37	NULL		12																																																																																			PLEKHA8P1	-	-	ENSG00000134297		0.393	PLEKHA8P1-002	KNOWN	basic	processed_transcript	PLEKHA8P1	HGNC	pseudogene	OTTHUMT00000404814.1	385	0.00	0	C	NR_037144		45567613	45567613	-1	no_errors	ENST00000256692	ensembl	human	known	69_37n	rna	439	11.95	60	SNP	0.313	A
PODN	127435	genome.wustl.edu	37	1	53537273	53537273	+	Silent	SNP	C	C	T			TCGA-BH-A0C1-01B-11D-A12B-09	TCGA-BH-A0C1-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	adebc709-8059-43c3-ad0e-a102fa1536ff	5298995d-f21e-48f8-8696-0fb2e192693a	g.chr1:53537273C>T	ENST00000312553.5	+	3	530	c.523C>T	c.(523-525)Ctg>Ttg	p.L175L	PODN_ENST00000471210.1_3'UTR|PODN_ENST00000371500.3_Silent_p.L156L|RP11-334A14.5_ENST00000447867.1_RNA|PODN_ENST00000395871.2_Intron	NM_001199081.1|NM_153703.4	NP_001186010.1|NP_714914.2	Q7Z5L7	PODN_HUMAN	podocan	127					negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GACGCTGAACCTGCAAAACAA	0.642																																						dbGAP											0													42.0	41.0	41.0					1																	53537273		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY313607	CCDS573.1, CCDS55601.1, CCDS55602.1	1p32.3	2008-02-05			ENSG00000174348	ENSG00000174348		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	23174	protein-coding gene	gene with protein product	"""podocan proteoglycan"""	608661					Standard	NM_153703		Approved	PCAN, PODOCAN, MGC24995, SLRR5A	uc010onr.2	Q7Z5L7	OTTHUMG00000008934	ENST00000312553.5:c.523C>T	1.37:g.53537273C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DKN5|B4E373|Q5VVZ2|Q5VVZ3|Q6PIR3|Q6UXL8|Q8N641	Silent	SNP	pfam_Leu-rich_rpt,smart_LRR-contain_N,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_typical-subtyp	p.L175	ENST00000312553.5	37	c.523	CCDS573.1	1																																																																																			PODN	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_typical-subtyp	ENSG00000174348		0.642	PODN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PODN	HGNC	protein_coding	OTTHUMT00000024735.1	70	0.00	0	C	NM_153703		53537273	53537273	+1	no_errors	ENST00000312553	ensembl	human	known	69_37n	silent	56	21.13	15	SNP	1.000	T
PRMT9	90826	genome.wustl.edu	37	4	148575485	148575485	+	Silent	SNP	T	T	C			TCGA-BH-A0C1-01B-11D-A12B-09	TCGA-BH-A0C1-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	adebc709-8059-43c3-ad0e-a102fa1536ff	5298995d-f21e-48f8-8696-0fb2e192693a	g.chr4:148575485T>C	ENST00000322396.6	-	9	1805	c.1563A>G	c.(1561-1563)gaA>gaG	p.E521E	TMEM184C_ENST00000508208.1_Intron|PRMT10_ENST00000541232.1_Silent_p.E408E	NM_138364.2	NP_612373.2	Q6P2P2	ANM9_HUMAN		521						cytoplasm (GO:0005737)	protein methyltransferase activity (GO:0008276)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						TTTCTGTAGATTCCAATATAC	0.398																																						dbGAP											0													165.0	157.0	160.0					4																	148575485		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0																														ENST00000322396.6:c.1563A>G	4.37:g.148575485T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8KA39|B3KU92|Q6ZR58|Q8N383|Q9BT55|Q9NT98	Silent	SNP	pfam_Ribosomal-L11_MeTrfase_PrmA,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E521	ENST00000322396.6	37	c.1563	CCDS3771.1	4																																																																																			PRMT10	-	NULL	ENSG00000164169		0.398	PRMT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRMT10	HGNC	protein_coding	OTTHUMT00000364650.1	303	0.00	0	T			148575485	148575485	-1	no_errors	ENST00000322396	ensembl	human	known	69_37n	silent	213	34.56	113	SNP	0.899	C
RUNX1	861	genome.wustl.edu	37	21	36252958	36252958	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0C1-01B-11D-A12B-09	TCGA-BH-A0C1-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	adebc709-8059-43c3-ad0e-a102fa1536ff	5298995d-f21e-48f8-8696-0fb2e192693a	g.chr21:36252958C>T	ENST00000344691.4	-	2	1900	c.323G>A	c.(322-324)gGc>gAc	p.G108D	RUNX1_ENST00000486278.2_Missense_Mutation_p.G111D|RUNX1_ENST00000437180.1_Missense_Mutation_p.G135D|RUNX1_ENST00000358356.5_Missense_Mutation_p.G108D|RUNX1_ENST00000325074.5_Missense_Mutation_p.G123D|RUNX1_ENST00000300305.3_Missense_Mutation_p.G135D|RUNX1_ENST00000399240.1_Missense_Mutation_p.G108D	NM_001001890.2	NP_001001890.1	Q01196	RUNX1_HUMAN	runt-related transcription factor 1	108	Runt. {ECO:0000255|PROSITE- ProRule:PRU00399}.				behavioral response to pain (GO:0048266)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system development (GO:0007417)|definitive hemopoiesis (GO:0060216)|embryonic hemopoiesis (GO:0035162)|hair follicle morphogenesis (GO:0031069)|hematopoietic stem cell proliferation (GO:0071425)|hemopoiesis (GO:0030097)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|myeloid cell differentiation (GO:0030099)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of granulocyte differentiation (GO:0030853)|peripheral nervous system neuron development (GO:0048935)|positive regulation of angiogenesis (GO:0045766)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of progesterone secretion (GO:2000872)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hair follicle cell proliferation (GO:0071336)|regulation of signal transduction (GO:0009966)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	452						TTCATCATTGCCAGCCATCAC	0.488			T	"""RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4"""	"""AML, preB- ALL, T-ALL"""																																	dbGAP		Dom	yes		21	21q22.3	861	runt-related transcription factor 1  (AML1)		L	0													126.0	107.0	113.0					21																	36252958		2203	4300	6503	-	-	-	SO:0001583	missense	0			X79549	CCDS13639.1, CCDS42922.1, CCDS46646.1	21q22.3	2014-09-17	2008-07-29		ENSG00000159216	ENSG00000159216			10471	protein-coding gene	gene with protein product	"""aml1 oncogene"""	151385	"""acute myeloid leukemia 1"""	AML1, CBFA2		1427868, 7835892	Standard	NM_001001890		Approved	PEBP2A2, AMLCR1	uc010gmv.3	Q01196	OTTHUMG00000086299	ENST00000344691.4:c.323G>A	21.37:g.36252958C>T	ENSP00000340690:p.Gly108Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MV94|B2RMS4|D3DSG1|O60472|O60473|O76047|O76089|Q13081|Q13755|Q13756|Q13757|Q13758|Q13759|Q15341|Q15343|Q16122|Q16284|Q16285|Q16286|Q16346|Q16347|Q92479	Missense_Mutation	SNP	pfam_AML1/Runt_N,pfam_RunxI,superfamily_p53-like_TF_DNA-bd,pirsf_TF_Runt-rel_RUNX,pfscan_AML1/Runt_N,prints_AML1_Runt	p.G135D	ENST00000344691.4	37	c.404	CCDS42922.1	21	.	.	.	.	.	.	.	.	.	.	C	33	5.203797	0.95033	.	.	ENSG00000159216	ENST00000344691;ENST00000300305;ENST00000437180;ENST00000325074;ENST00000399240;ENST00000399245;ENST00000358356;ENST00000399237;ENST00000486278;ENST00000455571	D;D;D;D;D;D;D;D;D	0.99793	-6.77;-6.77;-6.77;-6.77;-6.77;-6.77;-6.77;-6.77;-6.77	5.31	5.31	0.75309	Acute myeloid leukemia 1 (AML 1)/Runt (2);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99832	0.9924	M	0.91196	3.185	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.97019	0.9742	10	0.87932	D	0	-29.9772	19.3355	0.94316	0.0:1.0:0.0:0.0	.	135;108;108;111;135;123;108	Q2TAM6;Q01196-5;Q01196-3;C9JK12;Q01196-8;Q01196-10;Q01196	.;.;.;.;.;.;RUNX1_HUMAN	D	108;135;135;123;108;111;108;123;111;122	ENSP00000340690:G108D;ENSP00000300305:G135D;ENSP00000409227:G135D;ENSP00000319459:G123D;ENSP00000382184:G108D;ENSP00000351123:G108D;ENSP00000382182:G123D;ENSP00000438019:G111D;ENSP00000388189:G122D	ENSP00000300305:G135D	G	-	2	0	RUNX1	35174828	1.000000	0.71417	0.998000	0.56505	0.908000	0.53690	7.445000	0.80570	2.652000	0.90054	0.655000	0.94253	GGC	RUNX1	-	pfam_AML1/Runt_N,superfamily_p53-like_TF_DNA-bd,pirsf_TF_Runt-rel_RUNX,pfscan_AML1/Runt_N,prints_AML1_Runt	ENSG00000159216		0.488	RUNX1-001	KNOWN	basic|CCDS	protein_coding	RUNX1	HGNC	protein_coding	OTTHUMT00000194230.1	197	0.00	0	C			36252958	36252958	-1	no_errors	ENST00000300305	ensembl	human	known	69_37n	missense	168	33.33	85	SNP	1.000	T
SCAP	22937	genome.wustl.edu	37	3	47467065	47467065	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0C1-01B-11D-A12B-09	TCGA-BH-A0C1-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	adebc709-8059-43c3-ad0e-a102fa1536ff	5298995d-f21e-48f8-8696-0fb2e192693a	g.chr3:47467065G>A	ENST00000265565.5	-	8	1359	c.947C>T	c.(946-948)gCc>gTc	p.A316V	SCAP_ENST00000441517.2_Missense_Mutation_p.A61V|SCAP_ENST00000545718.1_Intron	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	316	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				aging (GO:0007568)|cholesterol metabolic process (GO:0008203)|negative regulation of cholesterol biosynthetic process (GO:0045541)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|regulation of fatty acid biosynthetic process (GO:0042304)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)	unfolded protein binding (GO:0051082)			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		GGCAGCCAGGGCCAGCCCCCA	0.677																																					Pancreas(149;978 1908 29304 37806 46700)	dbGAP											0													76.0	75.0	75.0					3																	47467065		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC020987	CCDS2755.2	3p21.31	2013-01-10			ENSG00000114650	ENSG00000114650		"""WD repeat domain containing"""	30634	protein-coding gene	gene with protein product	"""SREBP cleavage activating protein"""	601510				8898195, 8724849, 10570913	Standard	XM_005264967		Approved	KIAA0199	uc003crh.1	Q12770	OTTHUMG00000125539	ENST00000265565.5:c.947C>T	3.37:g.47467065G>A	ENSP00000265565:p.Ala316Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N2E0|Q8WUA1	Missense_Mutation	SNP	pfam_Patched,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_SSD,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.A316V	ENST00000265565.5	37	c.947	CCDS2755.2	3	.	.	.	.	.	.	.	.	.	.	G	36	5.965534	0.97151	.	.	ENSG00000114650	ENST00000339815;ENST00000265565;ENST00000441517;ENST00000383739	D;D	0.92595	-3.07;-3.07	5.42	5.42	0.78866	Sterol-sensing domain (1);	0.000000	0.85682	D	0.000000	D	0.96682	0.8917	M	0.87827	2.91	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.994;0.999	D	0.96905	0.9663	10	0.87932	D	0	-23.0396	18.9933	0.92803	0.0:0.0:1.0:0.0	.	61;316	F8W921;Q12770	.;SCAP_HUMAN	V	316;316;61;9	ENSP00000265565:A316V;ENSP00000416847:A61V	ENSP00000265565:A316V	A	-	2	0	SCAP	47442069	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.346000	0.97056	2.820000	0.97059	0.650000	0.86243	GCC	SCAP	-	pfam_Patched,pfscan_SSD	ENSG00000114650		0.677	SCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAP	HGNC	protein_coding	OTTHUMT00000246872.2	53	0.00	0	G	NM_012235		47467065	47467065	-1	no_errors	ENST00000265565	ensembl	human	known	69_37n	missense	58	15.71	11	SNP	1.000	A
SLC52A2	79581	genome.wustl.edu	37	8	145584130	145584130	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BH-A0C1-01B-11D-A12B-09	TCGA-BH-A0C1-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	adebc709-8059-43c3-ad0e-a102fa1536ff	5298995d-f21e-48f8-8696-0fb2e192693a	g.chr8:145584130delC	ENST00000532887.1	+	3	1561	c.978delC	c.(976-978)ttcfs	p.F326fs	SLC52A2_ENST00000329994.2_Frame_Shift_Del_p.F326fs|SLC52A2_ENST00000530047.1_Frame_Shift_Del_p.F326fs|SLC52A2_ENST00000526752.1_Intron|SLC52A2_ENST00000540505.1_Frame_Shift_Del_p.F238fs|SLC52A2_ENST00000527078.1_Frame_Shift_Del_p.F326fs|SLC52A2_ENST00000402965.1_Frame_Shift_Del_p.F326fs|FBXL6_ENST00000331890.5_5'Flank|FBXL6_ENST00000455319.2_5'Flank			Q9HAB3	S52A2_HUMAN	solute carrier family 52 (riboflavin transporter), member 2	326					riboflavin transport (GO:0032218)	integral component of plasma membrane (GO:0005887)	riboflavin transporter activity (GO:0032217)|virus receptor activity (GO:0001618)									Gamma Hydroxybutyric Acid(DB01440)	TGGCCTGCTTCCTGGCCATGG	0.657																																						dbGAP											0													72.0	70.0	71.0					8																	145584130		2200	4296	6496	-	-	-	SO:0001589	frameshift_variant	0			AY070774	CCDS6423.1	8q24.3	2013-07-17	2013-07-17	2012-02-29		ENSG00000185803		"""Solute carriers"""	30224	protein-coding gene	gene with protein product		607882	"""G protein-coupled receptor 172A"""	GPR172A		12740431	Standard	NM_024531		Approved	FLJ11856, PAR1, GPCR41, D15Ertd747e, RFVT2, hRFT3	uc003zcd.2	Q9HAB3		ENST00000532887.1:c.978delC	8.37:g.145584130delC	ENSP00000436768:p.Phe326fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6B6|D3DWL8|G1UCY1|Q86UT1	Frame_Shift_Del	DEL	pfam_Endogenous_retrovirus_rcpt	p.L327fs	ENST00000532887.1	37	c.978	CCDS6423.1	8																																																																																			SLC52A2	-	pfam_Endogenous_retrovirus_rcpt	ENSG00000185803		0.657	SLC52A2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC52A2	HGNC	protein_coding	OTTHUMT00000382405.1	46	0.00	0	C	NM_024531		145584130	145584130	+1	no_errors	ENST00000329994	ensembl	human	known	69_37n	frame_shift_del	35	26.53	13	DEL	0.994	-
STARD8	9754	genome.wustl.edu	37	X	67940160	67940160	+	Silent	SNP	C	C	T			TCGA-BH-A0C1-01B-11D-A12B-09	TCGA-BH-A0C1-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	adebc709-8059-43c3-ad0e-a102fa1536ff	5298995d-f21e-48f8-8696-0fb2e192693a	g.chrX:67940160C>T	ENST00000252336.6	+	7	2076	c.1704C>T	c.(1702-1704)caC>caT	p.H568H	STARD8_ENST00000374597.3_Silent_p.H568H|STARD8_ENST00000374599.3_Silent_p.H648H	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	568					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						GGGGACAGCACGTATTTGGGG	0.572																																						dbGAP											0													74.0	51.0	59.0					X																	67940160		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0			D80011	CCDS14390.1, CCDS48134.1	Xq13.1	2011-09-13	2007-08-16		ENSG00000130052	ENSG00000130052		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	19161	protein-coding gene	gene with protein product		300689	"""START domain containing 8"""			8724849	Standard	NM_001142504		Approved	KIAA0189, ARHGAP38	uc004dxb.3	Q92502	OTTHUMG00000021748	ENST00000252336.6:c.1704C>T	X.37:g.67940160C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6T2|D3DVT9|Q5JST0|Q68DG7	Silent	SNP	pfam_START_lipid-bd,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd,pfscan_START_lipid-bd,pfscan_RhoGAP_dom	p.H648	ENST00000252336.6	37	c.1944	CCDS14390.1	X																																																																																			STARD8	-	NULL	ENSG00000130052		0.572	STARD8-201	KNOWN	basic|CCDS	protein_coding	STARD8	HGNC	protein_coding	OTTHUMT00000057026.2	66	0.00	0	C	NM_014725		67940160	67940160	+1	no_errors	ENST00000374599	ensembl	human	known	69_37n	silent	62	16.22	12	SNP	0.914	T
VPS35	55737	genome.wustl.edu	37	16	46695632	46695632	+	Missense_Mutation	SNP	C	C	T	rs557875371		TCGA-BH-A0C1-01B-11D-A12B-09	TCGA-BH-A0C1-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	adebc709-8059-43c3-ad0e-a102fa1536ff	5298995d-f21e-48f8-8696-0fb2e192693a	g.chr16:46695632C>T	ENST00000299138.7	-	16	2267	c.2209G>A	c.(2209-2211)Gcg>Acg	p.A737T	RP11-93O14.2_ENST00000569353.1_RNA	NM_018206.4	NP_060676.2	Q96QK1	VPS35_HUMAN	vacuolar protein sorting 35 homolog (S. cerevisiae)	737			A -> V. {ECO:0000269|PubMed:21763482}.		cell death (GO:0008219)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|retromer complex (GO:0030904)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|pancreas(1)|prostate(1)|urinary_tract(1)	23		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				TCACTTACCGCATCATTTTCC	0.299																																						dbGAP											0													59.0	64.0	62.0					16																	46695632		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF175265	CCDS10721.1	16q12	2012-06-27	2006-12-19		ENSG00000069329	ENSG00000069329		"""Parkinson disease"""	13487	protein-coding gene	gene with protein product		601501	"""vacuolar protein sorting 35 (yeast homolog)"", ""vacuolar protein sorting 35 (yeast)"""			11112353, 21763482	Standard	NM_018206		Approved	FLJ10752, MEM3, PARK17	uc002eef.4	Q96QK1	OTTHUMG00000132542	ENST00000299138.7:c.2209G>A	16.37:g.46695632C>T	ENSP00000299138:p.Ala737Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q561W2|Q9H016|Q9H096|Q9H4P3|Q9H8J0|Q9NRS7|Q9NVG2|Q9NX80|Q9NZK2	Missense_Mutation	SNP	pfam_VPS35,superfamily_ARM-type_fold	p.A737T	ENST00000299138.7	37	c.2209	CCDS10721.1	16	.	.	.	.	.	.	.	.	.	.	.	15.57	2.873332	0.51695	.	.	ENSG00000069329	ENST00000299138;ENST00000541330	T	0.44083	0.93	5.51	5.51	0.81932	.	0.050301	0.85682	D	0.000000	T	0.32285	0.0824	N	0.22421	0.69	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.08269	-1.0730	10	0.18710	T	0.47	-11.2383	19.427	0.94746	0.0:1.0:0.0:0.0	.	737	Q96QK1	VPS35_HUMAN	T	737;602	ENSP00000299138:A737T	ENSP00000299138:A737T	A	-	1	0	VPS35	45253133	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.775000	0.85489	2.577000	0.86979	0.561000	0.74099	GCG	VPS35	-	pfam_VPS35,superfamily_ARM-type_fold	ENSG00000069329		0.299	VPS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS35	HGNC	protein_coding	OTTHUMT00000255742.3	122	0.00	0	C			46695632	46695632	-1	no_errors	ENST00000299138	ensembl	human	known	69_37n	missense	99	26.12	35	SNP	1.000	T
TRADD	8717	genome.wustl.edu	37	16	67190466	67190466	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0C1-01B-11D-A12B-09	TCGA-BH-A0C1-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	adebc709-8059-43c3-ad0e-a102fa1536ff	5298995d-f21e-48f8-8696-0fb2e192693a	g.chr16:67190466G>A	ENST00000345057.4	-	2	566	c.98C>T	c.(97-99)gCg>gTg	p.A33V	TRADD_ENST00000486556.1_5'Flank|TRADD_ENST00000566104.1_5'UTR	NM_003789.3	NP_003780.1	Q15628	TRADD_HUMAN	TNFRSF1A-associated via death domain	33					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|positive regulation of apoptotic process (GO:0043065)|positive regulation of hair follicle development (GO:0051798)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein heterooligomerization (GO:0051291)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|signal transduction (GO:0007165)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|nucleus (GO:0005634)|receptor complex (GO:0043235)	binding, bridging (GO:0060090)|death domain binding (GO:0070513)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|signal transducer activity (GO:0004871)			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		CTGGGGGTGCGCGTAGGCATC	0.637											OREG0023872	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													129.0	103.0	112.0					16																	67190466		2198	4300	6498	-	-	-	SO:0001583	missense	0			L41690	CCDS10829.1	16q22	2008-07-28			ENSG00000102871	ENSG00000102871			12030	protein-coding gene	gene with protein product		603500				7758105	Standard	NM_003789		Approved	Hs.89862	uc002eri.1	Q15628	OTTHUMG00000137519	ENST00000345057.4:c.98C>T	16.37:g.67190466G>A	ENSP00000341268:p.Ala33Val	Somatic	1097	WXS	Illumina GAIIx	Phase_IV	B2RDS3|B3KQZ9|Q52NZ1	Missense_Mutation	SNP	pfam_TRADD_N,pfam_Death,superfamily_TRADD_N,superfamily_DEATH-like,smart_Death,pfscan_Death	p.A33V	ENST00000345057.4	37	c.98	CCDS10829.1	16	.	.	.	.	.	.	.	.	.	.	G	13.13	2.144523	0.37825	.	.	ENSG00000102871	ENST00000345057	.	.	.	4.63	1.11	0.20524	TRADD, N-terminal (3);	0.411476	0.25845	N	0.027931	T	0.26738	0.0654	L	0.44542	1.39	0.09310	N	1	B;B	0.18968	0.032;0.004	B;B	0.11329	0.006;0.0	T	0.09818	-1.0657	9	0.33940	T	0.23	-0.1566	2.2524	0.04047	0.11:0.235:0.4626:0.1924	.	33;33	B4DWM0;Q15628	.;TRADD_HUMAN	V	33	.	ENSP00000341268:A33V	A	-	2	0	TRADD	65747967	0.049000	0.20398	0.336000	0.25522	0.929000	0.56500	0.741000	0.26202	0.496000	0.27904	-0.448000	0.05591	GCG	TRADD	-	superfamily_TRADD_N	ENSG00000102871		0.637	TRADD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRADD	HGNC	protein_coding	OTTHUMT00000268841.2	79	0.00	0	G			67190466	67190466	-1	no_errors	ENST00000345057	ensembl	human	known	69_37n	missense	47	17.24	10	SNP	0.032	A
VWA7	80737	genome.wustl.edu	37	6	31741200	31741200	+	Missense_Mutation	SNP	C	C	T	rs200775618		TCGA-BH-A0C1-01B-11D-A12B-09	TCGA-BH-A0C1-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	adebc709-8059-43c3-ad0e-a102fa1536ff	5298995d-f21e-48f8-8696-0fb2e192693a	g.chr6:31741200C>T	ENST00000375688.4	-	6	936	c.736G>A	c.(736-738)Ggg>Agg	p.G246R	VWA7_ENST00000447450.1_Missense_Mutation_p.G246R|VWA7_ENST00000375686.3_Missense_Mutation_p.G246R|VWA7_ENST00000467576.1_Intron			Q9Y334	VWA7_HUMAN	von Willebrand factor A domain containing 7	246						extracellular region (GO:0005576)											AAATGGCCCCCGTGGCTACAT	0.592													C|||	1	0.000199681	0.0	0.0	5008	,	,		18411	0.0		0.001	False		,,,				2504	0.0					dbGAP											0													39.0	40.0	39.0					6																	31741200		2203	4299	6502	-	-	-	SO:0001583	missense	0				CCDS4721.2	6p21	2011-12-13	2011-12-13	2011-12-13	ENSG00000204396	ENSG00000204396			13939	protein-coding gene	gene with protein product		609693	"""chromosome 6 open reading frame 27"""	C6orf27			Standard	NM_025258		Approved	G7c, NG37	uc011dog.2	Q9Y334	OTTHUMG00000031132	ENST00000375688.4:c.736G>A	6.37:g.31741200C>T	ENSP00000364840:p.Gly246Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	A2BEX8|A6NHR6|B0V041|Q5SSR5|Q96QC8|Q9UMP9	Missense_Mutation	SNP	NULL	p.G246R	ENST00000375688.4	37	c.736	CCDS4721.2	6	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	28.6	4.935053	0.92458	.	.	ENSG00000204396	ENST00000375688;ENST00000375686;ENST00000447450	T;T;T	0.60171	1.39;1.16;0.21	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.72095	0.3418	M	0.71036	2.16	0.58432	D	0.999991	D	0.89917	1.0	D	0.97110	1.0	T	0.73842	-0.3855	10	0.87932	D	0	-21.502	17.7697	0.88487	0.0:1.0:0.0:0.0	.	246	Q9Y334	G7C_HUMAN	R	246	ENSP00000364840:G246R;ENSP00000364838:G246R;ENSP00000390554:G246R	ENSP00000364838:G246R	G	-	1	0	C6orf27	31849179	1.000000	0.71417	0.983000	0.44433	0.967000	0.64934	6.600000	0.74132	2.800000	0.96347	0.544000	0.68410	GGG	VWA7	-	NULL	ENSG00000204396		0.592	VWA7-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	VWA7	HGNC	protein_coding	OTTHUMT00000076233.2	164	0.00	0	C	NM_025258		31741200	31741200	-1	no_errors	ENST00000375686	ensembl	human	known	69_37n	missense	101	37.42	61	SNP	1.000	T
YAP1	10413	genome.wustl.edu	37	11	102100570	102100570	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0C1-01B-11D-A12B-09	TCGA-BH-A0C1-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	adebc709-8059-43c3-ad0e-a102fa1536ff	5298995d-f21e-48f8-8696-0fb2e192693a	g.chr11:102100570C>T	ENST00000282441.5	+	9	1802	c.1414C>T	c.(1414-1416)Cca>Tca	p.P472S	RP11-864G5.3_ENST00000526310.1_RNA|YAP1_ENST00000524575.1_Missense_Mutation_p.P294S|YAP1_ENST00000537274.1_Missense_Mutation_p.P460S|YAP1_ENST00000531439.1_Missense_Mutation_p.P456S|YAP1_ENST00000345877.2_Missense_Mutation_p.P422S|YAP1_ENST00000526343.1_Missense_Mutation_p.P418S|YAP1_ENST00000528834.1_3'UTR	NM_001130145.2|NM_001282101.1	NP_001123617.1|NP_001269030.1	P46937	YAP1_HUMAN	Yes-associated protein 1	472	Transactivation domain.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|contact inhibition (GO:0060242)|embryonic heart tube morphogenesis (GO:0003143)|gene expression (GO:0010467)|hippo signaling (GO:0035329)|keratinocyte differentiation (GO:0030216)|lateral mesoderm development (GO:0048368)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|notochord development (GO:0030903)|paraxial mesoderm development (GO:0048339)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|positive regulation of organ growth (GO:0046622)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of keratinocyte proliferation (GO:0010837)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of stem cell proliferation (GO:0072091)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4	all_cancers(8;0.000575)|all_epithelial(12;0.00564)	Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.00936)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0189)		GGAGCTGATGCCAAGTCTGCA	0.453																																					Colon(50;247 1103 7861 28956)	dbGAP											0													134.0	128.0	130.0					11																	102100570		2203	4299	6502	-	-	-	SO:0001583	missense	0				CCDS8314.1, CCDS44716.1, CCDS8314.2, CCDS53699.1, CCDS53700.1, CCDS60944.1, CCDS73373.1, CCDS73374.1	11q13	2010-03-19	2010-03-19		ENSG00000137693	ENSG00000137693			16262	protein-coding gene	gene with protein product		606608	"""Yes-associated protein 1, 65kDa"""			7782338	Standard	NM_001130145		Approved	YAP65	uc001pgt.3	P46937	OTTHUMG00000167322	ENST00000282441.5:c.1414C>T	11.37:g.102100570C>T	ENSP00000282441:p.Pro472Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DTY1|B7ZA01|E3WEB5|E3WEB6|E9PRV2|F5H202|K0KQ18|K0KYZ8|K0L195|K0L1G3|Q7Z574|Q8IUY9	Missense_Mutation	SNP	pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP	p.P472S	ENST00000282441.5	37	c.1414	CCDS44716.1	11	.	.	.	.	.	.	.	.	.	.	C	27.3	4.822014	0.90873	.	.	ENSG00000137693	ENST00000526343;ENST00000282441;ENST00000537274;ENST00000345877;ENST00000445250;ENST00000531439;ENST00000524575	T;T;T	0.62105	0.05;0.08;0.27	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.70988	0.3287	N	0.24115	0.695	0.80722	D	1	D;D;D;D;D;D	0.89917	0.993;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.979;0.999;0.996;0.999;0.997;0.998	T	0.70464	-0.4864	10	0.49607	T	0.09	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	294;389;418;456;472;422	B4DTY1;F5GWC5;E9PRV2;P46937-2;P46937;P46937-3	.;.;.;.;YAP1_HUMAN;.	S	418;472;460;422;389;456;294	ENSP00000434134:P418S;ENSP00000331023:P422S;ENSP00000435602:P294S	ENSP00000282441:P472S	P	+	1	0	YAP1	101605780	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	5.675000	0.68123	2.941000	0.99782	0.655000	0.94253	CCA	YAP1	-	NULL	ENSG00000137693		0.453	YAP1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	YAP1	HGNC	protein_coding	OTTHUMT00000394151.1	284	0.00	0	C	NM_006106		102100570	102100570	+1	no_errors	ENST00000282441	ensembl	human	known	69_37n	missense	236	17.07	49	SNP	1.000	T
YME1L1	10730	genome.wustl.edu	37	10	27436575	27436575	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0C1-01B-11D-A12B-09	TCGA-BH-A0C1-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	adebc709-8059-43c3-ad0e-a102fa1536ff	5298995d-f21e-48f8-8696-0fb2e192693a	g.chr10:27436575G>A	ENST00000326799.3	-	3	339	c.191C>T	c.(190-192)aCg>aTg	p.T64M	YME1L1_ENST00000375972.3_Intron|YME1L1_ENST00000376016.3_Intron|YME1L1_ENST00000477432.1_Missense_Mutation_p.T64M	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	64					cell proliferation (GO:0008283)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|mitochondrion organization (GO:0007005)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						gttaagcttcgtcaggaagtc	0.423																																						dbGAP											0													103.0	89.0	94.0					10																	27436575		2124	4115	6239	-	-	-	SO:0001583	missense	0			AJ132637	CCDS7151.1, CCDS7152.1, CCDS58072.1	10p14	2013-06-10	2013-06-10		ENSG00000136758	ENSG00000136758		"""ATPases / AAA-type"""	12843	protein-coding gene	gene with protein product		607472	"""YME1 (S.cerevisiae)-like 1"", ""YME1-like 1 (S. cerevisiae)"""			22262461	Standard	NM_139312		Approved		uc001itj.3	Q96TA2	OTTHUMG00000017853	ENST00000326799.3:c.191C>T	10.37:g.27436575G>A	ENSP00000318480:p.Thr64Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DNM1|D3DRV8|D3DRV9|Q5T8D9|Q9H1Q0|Q9UMR9	Missense_Mutation	SNP	pfam_Peptidase_M41,pfam_ATPase_AAA_core,smart_AAA+_ATPase,tigrfam_FtsH	p.T64M	ENST00000326799.3	37	c.191	CCDS7152.1	10	.	.	.	.	.	.	.	.	.	.	G	7.311	0.614904	0.14129	.	.	ENSG00000136758	ENST00000326799;ENST00000375969	D	0.92911	-3.13	1.96	1.96	0.26148	Peptidase M41, FtsH (1);	3.932870	0.01965	U	0.043632	D	0.90703	0.7083	N	0.08118	0	0.20307	N	0.999913	D;D	0.89917	1.0;0.999	P;D	0.64877	0.889;0.93	D	0.83635	0.0147	10	0.87932	D	0	.	7.454	0.27255	0.0:0.0:1.0:0.0	.	64;64	Q6PJ89;Q96TA2	.;YMEL1_HUMAN	M	64	ENSP00000318480:T64M	ENSP00000318480:T64M	T	-	2	0	YME1L1	27476581	0.446000	0.25665	0.030000	0.17652	0.010000	0.07245	2.104000	0.41815	1.413000	0.46997	0.460000	0.39030	ACG	YME1L1	-	NULL	ENSG00000136758		0.423	YME1L1-005	KNOWN	basic|CCDS	protein_coding	YME1L1	HGNC	protein_coding	OTTHUMT00000047306.1	277	0.00	0	G	NM_139312		27436575	27436575	-1	no_errors	ENST00000326799	ensembl	human	known	69_37n	missense	172	40.00	116	SNP	0.039	A
ZNF841	284371	genome.wustl.edu	37	19	52569331	52569331	+	Missense_Mutation	SNP	A	A	C			TCGA-BH-A0C1-01B-11D-A12B-09	TCGA-BH-A0C1-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	adebc709-8059-43c3-ad0e-a102fa1536ff	5298995d-f21e-48f8-8696-0fb2e192693a	g.chr19:52569331A>C	ENST00000426391.2	-	5	2007	c.1456T>G	c.(1456-1458)Tgt>Ggt	p.C486G	ZNF841_ENST00000359973.2_Intron|ZNF432_ENST00000598446.1_Intron|ZNF841_ENST00000594295.1_Missense_Mutation_p.C602G|ZNF841_ENST00000389534.4_Missense_Mutation_p.C602G|CTC-471J1.2_ENST00000569091.1_RNA			Q6ZN19	ZN841_HUMAN	zinc finger protein 841	486					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(3)|lung(3)	11						ACCTTGCCACACACATTACAT	0.428																																						dbGAP											0													100.0	84.0	89.0					19																	52569331		692	1591	2283	-	-	-	SO:0001583	missense	0			AK131409	CCDS46161.1	19q13.41	2013-01-08			ENSG00000197608	ENSG00000197608		"""Zinc fingers, C2H2-type"", ""-"""	27611	protein-coding gene	gene with protein product							Standard	NM_001136499		Approved	LOC284371	uc010ydh.1	Q6ZN19		ENST00000426391.2:c.1456T>G	19.37:g.52569331A>C	ENSP00000415453:p.Cys486Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EG58|Q6ZN82|Q6ZP71|Q8N9U7	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.C602G	ENST00000426391.2	37	c.1804		19	.	.	.	.	.	.	.	.	.	.	A	18.84	3.709991	0.68730	.	.	ENSG00000197608	ENST00000389534;ENST00000426391	D;D	0.85861	-2.04;-2.04	1.89	-0.537	0.11872	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94771	0.8312	H	0.99842	4.835	0.80722	D	1	D;D	0.69078	0.993;0.997	D;D	0.76575	0.988;0.958	D	0.89943	0.4074	9	0.87932	D	0	.	5.8379	0.18617	0.7204:0.0:0.2796:0.0	.	602;486	Q6ZN19-3;Q6ZN19	.;ZN841_HUMAN	G	602;486	ENSP00000374185:C602G;ENSP00000415453:C486G	ENSP00000374185:C602G	C	-	1	0	ZNF841	57261143	0.967000	0.33354	0.001000	0.08648	0.956000	0.61745	3.942000	0.56614	-0.376000	0.07943	0.260000	0.18958	TGT	ZNF841	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197608		0.428	ZNF841-001	PUTATIVE	basic	protein_coding	ZNF841	HGNC	protein_coding	OTTHUMT00000462435.1	230	0.00	0	A	XM_209155		52569331	52569331	-1	no_errors	ENST00000389534	ensembl	human	known	69_37n	missense	273	14.86	48	SNP	0.835	C
