#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
ABCC8	6833	genome.wustl.edu	37	11	17434293	17434293	+	Splice_Site	SNP	C	C	T			TCGA-B6-A0I5-01A-11W-A100-09	TCGA-B6-A0I5-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f1139266-fade-4d27-ac67-60870e666295	2a5bbcf0-d39c-4f1b-a200-f778e586d42e	g.chr11:17434293C>T	ENST00000389817.3	-	21	2544	c.2476G>A	c.(2476-2478)Ggc>Agc	p.G826S	ABCC8_ENST00000302539.4_Splice_Site_p.G827S			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	826	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)	p.G826S(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	AGGTTGATGCCCTGTCACCAA	0.562																																						dbGAP											1	Substitution - Missense(1)	breast(1)											145.0	92.0	110.0					11																	17434293		2200	4292	6492	-	-	-	SO:0001630	splice_region_variant	0			L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"""ATP binding cassette transporters / subfamily C"""	59	protein-coding gene	gene with protein product	"""sulfonylurea receptor (hyperinsulinemia)"""	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.2476-1G>A	11.37:g.17434293C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NMX8|E3UYX6|O75948|Q16583	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,prints_Sulphorea_rcpt,prints_Surea_rcpt-1,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.G827S	ENST00000389817.3	37	c.2479	CCDS31437.1	11	.	.	.	.	.	.	.	.	.	.	C	36	5.878750	0.97055	.	.	ENSG00000006071	ENST00000389817;ENST00000302539;ENST00000379493	D;D	0.95853	-3.83;-3.83	5.82	5.82	0.92795	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.98356	0.9454	M	0.91406	3.205	0.80722	D	1	P	0.47910	0.902	D	0.70487	0.969	D	0.98667	1.0686	10	0.87932	D	0	.	20.1008	0.97874	0.0:1.0:0.0:0.0	.	826	Q09428	ABCC8_HUMAN	S	826;827;830	ENSP00000374467:G826S;ENSP00000303960:G827S	ENSP00000303960:G827S	G	-	1	0	ABCC8	17390869	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.763000	0.85283	2.756000	0.94617	0.563000	0.77884	GGC	ABCC8	-	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	ENSG00000006071		0.562	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ABCC8	HGNC	protein_coding	OTTHUMT00000389093.1	164	0.00	0	C	NM_000352	Missense_Mutation	17434293	17434293	-1	no_errors	ENST00000302539	ensembl	human	known	69_37n	missense	140	35.62	78	SNP	1.000	T
ABCD2	225	genome.wustl.edu	37	12	39947886	39947886	+	Missense_Mutation	SNP	C	C	T			TCGA-B6-A0I5-01A-11W-A100-09	TCGA-B6-A0I5-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f1139266-fade-4d27-ac67-60870e666295	2a5bbcf0-d39c-4f1b-a200-f778e586d42e	g.chr12:39947886C>T	ENST00000308666.3	-	10	2186	c.2051G>A	c.(2050-2052)cGc>cAc	p.R684H		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	684	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				fatty acid beta-oxidation (GO:0006635)|positive regulation of fatty acid beta-oxidation (GO:0032000)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)|very long-chain fatty acid metabolic process (GO:0000038)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)	p.R684H(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						TTGTTCAAAGCGCCAACCTCC	0.348																																						dbGAP											2	Substitution - Missense(2)	lung(1)|breast(1)											101.0	99.0	99.0					12																	39947886		2203	4300	6503	-	-	-	SO:0001583	missense	0			U28150	CCDS8734.1	12q12	2012-05-16			ENSG00000173208	ENSG00000173208		"""ATP binding cassette transporters / subfamily D"""	66	protein-coding gene	gene with protein product		601081		ALDL1		8577752	Standard	NM_005164		Approved	ALDR, ALDRP	uc001rmb.2	Q9UBJ2	OTTHUMG00000169337	ENST00000308666.3:c.2051G>A	12.37:g.39947886C>T	ENSP00000310688:p.Arg684His	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAM3|Q13210|Q2M3H9	Missense_Mutation	SNP	pfam_ABC_Ald_N,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.R684H	ENST00000308666.3	37	c.2051	CCDS8734.1	12	.	.	.	.	.	.	.	.	.	.	C	11.48	1.651274	0.29336	.	.	ENSG00000173208	ENST00000308666	D	0.94650	-3.48	5.1	5.1	0.69264	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.059794	0.64402	D	0.000002	D	0.91240	0.7239	L	0.46157	1.445	0.47374	D	0.999407	B	0.16166	0.016	B	0.13407	0.009	D	0.87211	0.2247	9	.	.	.	1.7877	14.2213	0.65828	0.0:0.925:0.0:0.075	.	684	Q9UBJ2	ABCD2_HUMAN	H	684	ENSP00000310688:R684H	.	R	-	2	0	ABCD2	38234153	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.855000	0.55957	2.535000	0.85469	0.655000	0.94253	CGC	ABCD2	-	smart_AAA+_ATPase,pfscan_ABC_transporter-like	ENSG00000173208		0.348	ABCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCD2	HGNC	protein_coding	OTTHUMT00000403591.1	177	0.00	0	C	NM_005164		39947886	39947886	-1	no_errors	ENST00000308666	ensembl	human	known	69_37n	missense	183	27.38	69	SNP	1.000	T
BCOR	54880	genome.wustl.edu	37	X	39923606	39923606	+	Missense_Mutation	SNP	C	C	T			TCGA-B6-A0I5-01A-11W-A100-09	TCGA-B6-A0I5-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f1139266-fade-4d27-ac67-60870e666295	2a5bbcf0-d39c-4f1b-a200-f778e586d42e	g.chrX:39923606C>T	ENST00000378444.4	-	7	3713	c.3485G>A	c.(3484-3486)cGc>cAc	p.R1162H	BCOR_ENST00000397354.3_Missense_Mutation_p.R1162H|BCOR_ENST00000378455.4_Missense_Mutation_p.R1144H|BCOR_ENST00000342274.4_Missense_Mutation_p.R1162H|BCOR_ENST00000378463.1_Missense_Mutation_p.R39H	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1162					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.R1162H(1)		breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						GACTCGTCGGCGTTTGGCTTT	0.622			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic																															dbGAP		Rec	yes		X	Xp11.4	54880	BCL6 corepressor	yes		1	Substitution - Missense(1)	breast(1)											55.0	47.0	50.0					X																	39923606		2202	4300	6502	-	-	-	SO:0001583	missense	0			AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"""Ankyrin repeat domain containing"""	20893	protein-coding gene	gene with protein product		300485	"""BCL6 co-repressor"""			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.3485G>A	X.37:g.39923606C>T	ENSP00000367705:p.Arg1162His	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.R1162H	ENST00000378444.4	37	c.3485	CCDS48093.1	X	.	.	.	.	.	.	.	.	.	.	C	18.83	3.706917	0.68615	.	.	ENSG00000183337	ENST00000413905;ENST00000378463;ENST00000378455;ENST00000397354;ENST00000378444;ENST00000342274;ENST00000406200	T;T;T;T;T;T;T	0.11821	2.74;2.74;2.74;2.74;2.74;2.74;2.74	5.48	5.48	0.80851	.	.	.	.	.	T	0.19248	0.0462	L	0.29908	0.895	0.31922	N	0.613291	D;D;D	0.65815	0.995;0.995;0.995	P;P;P	0.57283	0.817;0.748;0.817	T	0.06826	-1.0805	9	0.46703	T	0.11	-12.8033	9.4642	0.38802	0.0:0.9014:0.0:0.0986	.	1144;1162;1162	Q6W2J9-4;Q6W2J9;Q6W2J9-2	.;BCOR_HUMAN;.	H	66;39;1144;1162;1162;1162;1162	ENSP00000408006:R66H;ENSP00000367724:R39H;ENSP00000367716:R1144H;ENSP00000380512:R1162H;ENSP00000367705:R1162H;ENSP00000345923:R1162H;ENSP00000384485:R1162H	ENSP00000345923:R1162H	R	-	2	0	BCOR	39808550	0.991000	0.36638	0.932000	0.37286	0.598000	0.36846	3.034000	0.49751	2.302000	0.77476	0.529000	0.55759	CGC	BCOR	-	NULL	ENSG00000183337		0.622	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCOR	HGNC	protein_coding	OTTHUMT00000060666.2	39	0.00	0	C	NM_017745		39923606	39923606	-1	no_errors	ENST00000378444	ensembl	human	known	69_37n	missense	36	17.78	8	SNP	0.934	T
CNP	1267	genome.wustl.edu	37	17	40123967	40123967	+	Missense_Mutation	SNP	G	G	A			TCGA-B6-A0I5-01A-11W-A100-09	TCGA-B6-A0I5-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f1139266-fade-4d27-ac67-60870e666295	2a5bbcf0-d39c-4f1b-a200-f778e586d42e	g.chr17:40123967G>A	ENST00000393892.3	+	3	878	c.734G>A	c.(733-735)aGa>aAa	p.R245K	CNP_ENST00000472031.1_Missense_Mutation_p.D21N|CNP_ENST00000393888.1_Missense_Mutation_p.R225K|CNP_ENST00000591072.1_Missense_Mutation_p.R10K	NM_033133.4	NP_149124.3	P09543	CN37_HUMAN	2',3'-cyclic nucleotide 3' phosphodiesterase	245					adult locomotory behavior (GO:0008344)|aging (GO:0007568)|axonogenesis (GO:0007409)|cyclic nucleotide catabolic process (GO:0009214)|microtubule cytoskeleton organization (GO:0000226)|oligodendrocyte differentiation (GO:0048709)|regulation of mitochondrial membrane permeability (GO:0046902)|response to lipopolysaccharide (GO:0032496)|response to toxic substance (GO:0009636)|substantia nigra development (GO:0021762)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule (GO:0005874)|microvillus (GO:0005902)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|myelin sheath abaxonal region (GO:0035748)|myelin sheath adaxonal region (GO:0035749)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	2',3'-cyclic-nucleotide 3'-phosphodiesterase activity (GO:0004113)|cyclic nucleotide binding (GO:0030551)|RNA binding (GO:0003723)	p.R245K(1)|p.R225K(1)		breast(1)|kidney(2)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	9		all_cancers(22;2.38e-06)|all_epithelial(22;6.79e-05)|Breast(137;0.000143)		UCEC - Uterine corpus endometrioid carcinoma (308;0.171)		TTTGGAAAGAGACCCCCAGGC	0.597																																						dbGAP											2	Substitution - Missense(2)	breast(2)											57.0	59.0	58.0					17																	40123967		1984	4153	6137	-	-	-	SO:0001583	missense	0				CCDS11414.2	17q21	2008-02-05			ENSG00000173786	ENSG00000173786	3.1.4.37		2158	protein-coding gene	gene with protein product		123830				1322358	Standard	XM_006721701		Approved		uc002hyl.1	P09543	OTTHUMG00000133502	ENST00000393892.3:c.734G>A	17.37:g.40123967G>A	ENSP00000377470:p.Arg245Lys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_CNPase,pfam_Zeta_toxin_domain,superfamily_RNA_ligase/cNuc_Pdiesterase,pirsf_CNPase	p.R245K	ENST00000393892.3	37	c.734	CCDS11414.2	17	.	.	.	.	.	.	.	.	.	.	G	14.82	2.648904	0.47362	.	.	ENSG00000173786	ENST00000393892;ENST00000310262;ENST00000393888	T;T	0.41758	0.99;0.99	4.98	4.01	0.46588	RNA ligase/cyclic nucleotide phosphodiesterase (1);	0.184945	0.26627	N	0.023330	T	0.33089	0.0851	L	0.41236	1.265	0.32655	N	0.518813	B;B	0.06786	0.0;0.001	B;B	0.06405	0.002;0.002	T	0.38329	-0.9666	10	0.34782	T	0.22	-13.0656	11.3513	0.49589	0.0852:0.0:0.9148:0.0	.	122;245	B4DI06;P09543	.;CN37_HUMAN	K	245;121;225	ENSP00000377470:R245K;ENSP00000377466:R225K	ENSP00000309643:R121K	R	+	2	0	CNP	37377493	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	4.093000	0.57714	1.329000	0.45376	0.455000	0.32223	AGA	CNP	-	pfam_CNPase,superfamily_RNA_ligase/cNuc_Pdiesterase,pirsf_CNPase	ENSG00000173786		0.597	CNP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNP	HGNC	protein_coding	OTTHUMT00000257443.2	72	0.00	0	G			40123967	40123967	+1	no_errors	ENST00000393892	ensembl	human	known	69_37n	missense	33	35.29	18	SNP	1.000	A
CRYGD	1421	genome.wustl.edu	37	2	208988842	208988842	+	Silent	SNP	G	G	A			TCGA-B6-A0I5-01A-11W-A100-09	TCGA-B6-A0I5-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f1139266-fade-4d27-ac67-60870e666295	2a5bbcf0-d39c-4f1b-a200-f778e586d42e	g.chr2:208988842G>A	ENST00000264376.4	-	2	273	c.246C>T	c.(244-246)atC>atT	p.I82I		NM_006891.3	NP_008822.2	P07320	CRGD_HUMAN	crystallin, gamma D	82	Beta/gamma crystallin 'Greek key' 2. {ECO:0000255|PROSITE-ProRule:PRU00028}.				cellular response to reactive oxygen species (GO:0034614)|lens development in camera-type eye (GO:0002088)|lens fiber cell differentiation (GO:0070306)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	structural constituent of eye lens (GO:0005212)	p.I82I(1)		breast(1)|endometrium(1)|lung(3)	5				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		TCACGTGGGGGATGAGGCGGC	0.577																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											24.0	27.0	26.0					2																	208988842		2199	4294	6493	-	-	-	SO:0001819	synonymous_variant	0				CCDS2378.1	2q33.3	2013-02-14			ENSG00000118231	ENSG00000118231			2411	protein-coding gene	gene with protein product		123690		CRYG4			Standard	NM_006891		Approved		uc002vcn.4	P07320	OTTHUMG00000132944	ENST00000264376.4:c.246C>T	2.37:g.208988842G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q17RF7|Q53R51|Q99681	Silent	SNP	pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,prints_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin	p.I82	ENST00000264376.4	37	c.246	CCDS2378.1	2																																																																																			CRYGD	-	pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin	ENSG00000118231		0.577	CRYGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRYGD	HGNC	protein_coding	OTTHUMT00000256476.2	19	0.00	0	G	NM_006891		208988842	208988842	-1	no_errors	ENST00000264376	ensembl	human	known	69_37n	silent	16	44.83	13	SNP	1.000	A
CSMD1	64478	genome.wustl.edu	37	8	2823394	2823394	+	Silent	SNP	A	A	G			TCGA-B6-A0I5-01A-11W-A100-09	TCGA-B6-A0I5-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f1139266-fade-4d27-ac67-60870e666295	2a5bbcf0-d39c-4f1b-a200-f778e586d42e	g.chr8:2823394A>G	ENST00000520002.1	-	60	9741	c.9186T>C	c.(9184-9186)taT>taC	p.Y3062Y	CSMD1_ENST00000537824.1_Silent_p.Y3061Y|CSMD1_ENST00000602723.1_Intron|CSMD1_ENST00000400186.3_Intron|CSMD1_ENST00000542608.1_Intron|CSMD1_ENST00000602557.1_Silent_p.Y3062Y			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3062	Sushi 24. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)		p.Y2790Y(1)|p.Y3061Y(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GGTTACACTGATAGCTCACAG	0.488																																						dbGAP											2	Substitution - coding silent(2)	breast(2)											120.0	119.0	119.0					8																	2823394		2075	4212	6287	-	-	-	SO:0001819	synonymous_variant	0					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.9186T>C	8.37:g.2823394A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,smart_CUB,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.S2479P	ENST00000520002.1	37	c.7435		8	.	.	.	.	.	.	.	.	.	.	A	0.529	-0.858522	0.02610	.	.	ENSG00000183117	ENST00000335551	.	.	.	5.42	-7.65	0.01281	.	.	.	.	.	T	0.63153	0.2487	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.68420	-0.5413	4	.	.	.	.	16.7241	0.85417	0.8018:0.0:0.1982:0.0	.	.	.	.	P	2479	.	.	S	-	1	0	CSMD1	2810801	0.995000	0.38212	0.668000	0.29813	0.007000	0.05969	0.447000	0.21710	-1.639000	0.01527	-0.993000	0.02533	TCA	CSMD1	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000183117		0.488	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	HGNC	protein_coding	OTTHUMT00000374500.2	120	0.00	0	A	NM_033225		2823394	2823394	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000335551	ensembl	human	novel	69_37n	missense	220	18.52	50	SNP	0.925	G
CYP21A2	1589	genome.wustl.edu	37	6	32006244	32006244	+	Frame_Shift_Del	DEL	C	C	-	rs549949982	byFrequency	TCGA-B6-A0I5-01A-11W-A100-09	TCGA-B6-A0I5-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f1139266-fade-4d27-ac67-60870e666295	2a5bbcf0-d39c-4f1b-a200-f778e586d42e	g.chr6:32006244delC	ENST00000418967.2	+	1	203	c.45delC	c.(43-45)ggcfs	p.G15fs	CYP21A2_ENST00000435122.2_Frame_Shift_Del_p.G15fs|C4B-AS1_ENST00000415626.1_RNA	NM_000500.7	NP_000491.4	P08686	CP21A_HUMAN	cytochrome P450, family 21, subfamily A, polypeptide 2	0			A -> T (in AH3; salt wasting form; no significant difference in activity compared with the wild-type; dbSNP:rs63749090). {ECO:0000269|PubMed:12887291, ECO:0000269|PubMed:15126570}.		glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 21-monooxygenase activity (GO:0004509)|steroid binding (GO:0005496)|steroid hydroxylase activity (GO:0008395)			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	11					Ketoconazole(DB01026)	tgctgGCTGGCGCCCGCCTGC	0.682																																					Melanoma(174;1669 1998 3915 34700 46447)	dbGAP											0													4.0	4.0	4.0					6																	32006244		1387	2507	3894	-	-	-	SO:0001589	frameshift_variant	0			X58906	CCDS4735.1, CCDS47406.1	6p21.3	2014-09-17	2003-01-14		ENSG00000231852	ENSG00000231852	1.14.99.10	"""Cytochrome P450s"""	2600	protein-coding gene	gene with protein product	"""Steroid 21-monooxygenase"""	613815	"""cytochrome P450, subfamily XXIA (steroid 21-hydroxylase, congenital adrenal hyperplasia), polypeptide 2"""	CYP21, CYP21B			Standard	NM_000500		Approved	P450c21B, CA21H, CPS1, CAH1	uc021yvd.1	P08686	OTTHUMG00000031069	ENST00000418967.2:c.45delC	6.37:g.32006244delC	ENSP00000408860:p.Gly15fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A2BHY6|P04033|Q01204|Q08AG8|Q16749|Q16806|Q5ST44|Q96NU8	Frame_Shift_Del	DEL	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.A16fs	ENST00000418967.2	37	c.45	CCDS4735.1	6																																																																																			CYP21A2	-	NULL	ENSG00000231852		0.682	CYP21A2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP21A2	HGNC	protein_coding	OTTHUMT00000268768.2	12	0.00	0	C	NM_000500		32006244	32006244	+1	no_errors	ENST00000418967	ensembl	human	known	69_37n	frame_shift_del	3	50.00	4	DEL	0.000	-
FADS2	9415	genome.wustl.edu	37	11	61607902	61607902	+	Missense_Mutation	SNP	C	C	T			TCGA-B6-A0I5-01A-11W-A100-09	TCGA-B6-A0I5-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f1139266-fade-4d27-ac67-60870e666295	2a5bbcf0-d39c-4f1b-a200-f778e586d42e	g.chr11:61607902C>T	ENST00000278840.4	+	3	1045	c.415C>T	c.(415-417)Cac>Tac	p.H139Y	FADS2_ENST00000257261.6_Missense_Mutation_p.H117Y|FADS2_ENST00000522056.1_Missense_Mutation_p.H108Y|FADS2_ENST00000521849.1_Missense_Mutation_p.H139Y	NM_004265.2	NP_004256.1	O95864	FADS2_HUMAN	fatty acid desaturase 2	139					alpha-linolenic acid metabolic process (GO:0036109)|linoleic acid metabolic process (GO:0043651)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|stearoyl-CoA 9-desaturase activity (GO:0004768)	p.H117Y(1)|p.H139Y(1)		breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20					Alpha-Linolenic Acid(DB00132)	CCTCCTGGCCCACATCATCGC	0.532																																						dbGAP											2	Substitution - Missense(2)	breast(2)											232.0	211.0	218.0					11																	61607902		2202	4299	6501	-	-	-	SO:0001583	missense	0			AF084559	CCDS8012.1, CCDS60807.1, CCDS60808.1	11q12.2	2013-01-25			ENSG00000134824	ENSG00000134824	1.14.19.3	"""Fatty acid desaturases"""	3575	protein-coding gene	gene with protein product	"""delta-6-desaturase"""	606149		LLCDL2			Standard	NM_004265		Approved	FADSD6, D6D, TU13, DES6, SLL0262	uc001nsl.1	O95864	OTTHUMG00000163794	ENST00000278840.4:c.415C>T	11.37:g.61607902C>T	ENSP00000278840:p.His139Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2M6|B7Z634|Q6MZQ7|Q96H07|Q96SV8|Q9H3G3|Q9Y3X4	Missense_Mutation	SNP	pfam_Fatty_acid_desaturase-1,pfam_Cyt_B5,superfamily_Cyt_B5,pirsf_Fatty_acid/sphinglp_desaturase,pfscan_Cyt_B5	p.H139Y	ENST00000278840.4	37	c.415	CCDS8012.1	11	.	.	.	.	.	.	.	.	.	.	C	21.3	4.125838	0.77436	.	.	ENSG00000134824	ENST00000257261;ENST00000522056;ENST00000518606;ENST00000278840;ENST00000517312;ENST00000521849	T;T;T;T;T;T	0.35421	1.97;1.97;1.48;2.0;1.31;1.98	4.65	4.65	0.58169	.	0.000000	0.56097	D	0.000028	T	0.51958	0.1705	M	0.87456	2.885	0.80722	D	1	P;P;B;P	0.48998	0.918;0.772;0.328;0.9	P;P;B;P	0.51657	0.558;0.461;0.338;0.676	T	0.59873	-0.7372	10	0.05525	T	0.97	-13.0841	17.3087	0.87202	0.0:1.0:0.0:0.0	.	108;139;139;117	B7Z634;O95864;O95864-3;O95864-2	.;FADS2_HUMAN;.;.	Y	117;108;17;139;17;139	ENSP00000257261:H117Y;ENSP00000429500:H108Y;ENSP00000430054:H17Y;ENSP00000278840:H139Y;ENSP00000430225:H17Y;ENSP00000431091:H139Y	ENSP00000257261:H117Y	H	+	1	0	FADS2	61364478	1.000000	0.71417	0.417000	0.26559	0.875000	0.50365	6.865000	0.75500	2.414000	0.81942	0.436000	0.28706	CAC	FADS2	-	pirsf_Fatty_acid/sphinglp_desaturase	ENSG00000134824		0.532	FADS2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FADS2	HGNC	protein_coding	OTTHUMT00000375586.2	112	0.00	0	C	NM_004265		61607902	61607902	+1	no_errors	ENST00000278840	ensembl	human	known	69_37n	missense	84	18.45	19	SNP	1.000	T
FAM182A	284800	genome.wustl.edu	37	20	26062002	26062002	+	RNA	SNP	G	G	C	rs74725001		TCGA-B6-A0I5-01A-11W-A100-09	TCGA-B6-A0I5-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f1139266-fade-4d27-ac67-60870e666295	2a5bbcf0-d39c-4f1b-a200-f778e586d42e	g.chr20:26062002G>C	ENST00000376398.2	+	0	1022					NR_026713.1		Q5T1J6	F182A_HUMAN	family with sequence similarity 182, member A											breast(1)|endometrium(2)|kidney(1)	4						TGGTGTGGCAGAAGAGTGTCC	0.587																																						dbGAP											0													18.0	14.0	16.0					20																	26062002		692	1564	2256	-	-	-			0			AL391119		20p11	2013-03-18	2008-08-05	2008-08-05	ENSG00000125804	ENSG00000125804			16222	other	unknown			"""chromosome 20 open reading frame 91"""	C20orf91			Standard	NR_026713		Approved	bB329D4.1, C20orf91A	uc010gdq.3	Q5T1J6	OTTHUMG00000032144		20.37:g.26062002G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A2RRD0|Q8N947	Missense_Mutation	SNP	NULL	p.Q118H	ENST00000376398.2	37	c.354		20	.	.	.	.	.	.	.	.	.	.	N	2.605	-0.292019	0.05568	.	.	ENSG00000125804	ENST00000376398;ENST00000246000;ENST00000415411	.	.	.	.	.	.	.	.	.	.	.	T	0.39172	0.1068	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.38779	-0.9645	3	0.87932	D	0	.	.	.	.	.	.	.	.	H	118;118;59	.	ENSP00000246000:Q118H	Q	+	3	2	FAM182A	26010002	0.000000	0.05858	0.148000	0.22405	0.149000	0.21700	-1.058000	0.03482	0.121000	0.18284	0.123000	0.15791	CAG	FAM182A	-	NULL	ENSG00000125804		0.587	FAM182A-001	KNOWN	basic	lincRNA	FAM182A	HGNC	processed_transcript	OTTHUMT00000078473.2	33	0.00	0	G			26062002	26062002	+1	no_errors	ENST00000246000	ensembl	human	known	69_37n	missense	11	26.67	4	SNP	0.160	C
FLG	2312	genome.wustl.edu	37	1	152281273	152281273	+	Missense_Mutation	SNP	G	G	T			TCGA-B6-A0I5-01A-11W-A100-09	TCGA-B6-A0I5-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f1139266-fade-4d27-ac67-60870e666295	2a5bbcf0-d39c-4f1b-a200-f778e586d42e	g.chr1:152281273G>T	ENST00000368799.1	-	3	6124	c.6089C>A	c.(6088-6090)gCa>gAa	p.A2030E	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2030	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.A2030E(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTCTCTGACTGCAGATGAAGC	0.542									Ichthyosis																													dbGAP											1	Substitution - Missense(1)	breast(1)											590.0	500.0	530.0					1																	152281273		2203	4298	6501	-	-	-	SO:0001583	missense	0	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.6089C>A	1.37:g.152281273G>T	ENSP00000357789:p.Ala2030Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin	p.A2030E	ENST00000368799.1	37	c.6089	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	g	3.731	-0.055555	0.07362	.	.	ENSG00000143631	ENST00000368799	T	0.04809	3.55	1.62	-0.706	0.11249	.	.	.	.	.	T	0.01092	0.0036	L	0.56769	1.78	0.09310	N	1	B	0.24618	0.107	B	0.26614	0.071	T	0.49163	-0.8968	9	0.06236	T	0.91	-0.1669	3.1991	0.06644	0.0:0.313:0.4165:0.2704	.	2030	P20930	FILA_HUMAN	E	2030	ENSP00000357789:A2030E	ENSP00000357789:A2030E	A	-	2	0	FLG	150547897	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-3.253000	0.00539	-0.181000	0.10619	0.485000	0.47835	GCA	FLG	-	pfam_Filaggrin	ENSG00000143631		0.542	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1	83	0.00	0	G	NM_002016		152281273	152281273	-1	no_errors	ENST00000368799	ensembl	human	known	69_37n	missense	260	19.44	63	SNP	0.000	T
GATA3	2625	genome.wustl.edu	37	10	8115701	8115704	+	Splice_Site	DEL	GATT	GATT	-	rs112417755		TCGA-B6-A0I5-01A-11W-A100-09	TCGA-B6-A0I5-10A-01W-A055-09	GATT	GATT					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f1139266-fade-4d27-ac67-60870e666295	2a5bbcf0-d39c-4f1b-a200-f778e586d42e	g.chr10:8115701_8115704delGATT	ENST00000346208.3	+	6	1502_1505	c.1047_1050delGATT	c.(1045-1050)aagatt>aa	p.KI349fs	GATA3_ENST00000461472.1_3'UTR|GATA3_ENST00000379328.3_Splice_Site_p.KI350fs			P23771	GATA3_HUMAN	GATA binding protein 3	349					anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cardiac right ventricle morphogenesis (GO:0003215)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|cellular response to interferon-alpha (GO:0035457)|cellular response to interleukin-4 (GO:0071353)|cellular response to tumor necrosis factor (GO:0071356)|defense response (GO:0006952)|developmental growth (GO:0048589)|ear development (GO:0043583)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|interferon-gamma secretion (GO:0072643)|interleukin-4 secretion (GO:0072602)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lymphocyte migration (GO:0072676)|male gonad development (GO:0008584)|mast cell differentiation (GO:0060374)|mesenchymal to epithelial transition (GO:0060231)|mesonephros development (GO:0001823)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell motility (GO:2000146)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in mesonephros development (GO:2000607)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation (GO:2000703)|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation (GO:2000734)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|nephric duct morphogenesis (GO:0072178)|neuron migration (GO:0001764)|norepinephrine biosynthetic process (GO:0042421)|otic vesicle development (GO:0071599)|parathyroid gland development (GO:0060017)|parathyroid hormone secretion (GO:0035898)|pharyngeal system development (GO:0060037)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|post-embryonic development (GO:0009791)|pro-T cell differentiation (GO:0002572)|regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)|regulation of cellular response to X-ray (GO:2000683)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of establishment of cell polarity (GO:2000114)|regulation of histone H3-K27 methylation (GO:0061085)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to virus (GO:0009615)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|T cell receptor signaling pathway (GO:0050852)|T-helper 2 cell differentiation (GO:0045064)|thymic T cell selection (GO:0045061)|thymus development (GO:0048538)|TOR signaling (GO:0031929)|transcription from RNA polymerase II promoter (GO:0006366)|type IV hypersensitivity (GO:0001806)|ureter maturation (GO:0035799)|ureteric bud formation (GO:0060676)|uterus development (GO:0060065)|ventricular septum development (GO:0003281)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer sequence-specific DNA binding (GO:0001158)|HMG box domain binding (GO:0071837)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)	p.?(3)		NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						TCTTTGTTTAGATTAACAGACCCC	0.422			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""																															dbGAP		Rec	yes		10	10p15	2625	GATA binding protein 3	yes	E	3	Unknown(3)	breast(3)	GRCh37	CS043935	GATA3	S	rs112417755																																			-	-	-	SO:0001630	splice_region_variant	0			X55122	CCDS7083.1, CCDS31143.1	10p15	2013-01-25	2001-11-28		ENSG00000107485	ENSG00000107485		"""GATA zinc finger domain containing"""	4172	protein-coding gene	gene with protein product		131320	"""GATA-binding protein 3"""			2050118, 15087456	Standard	NM_002051		Approved	HDR	uc001ijz.3	P23771	OTTHUMG00000017640	ENST00000346208.3:c.1048-1GATT>-	10.37:g.8115701_8115704delGATT		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VWG7|Q5VWG8|Q96J16	Frame_Shift_Del	DEL	pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA	p.N351fs	ENST00000346208.3	37	c.1052_1053	CCDS7083.1	10																																																																																			GATA3	-	smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA	ENSG00000107485		0.422	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	GATA3	HGNC	protein_coding	OTTHUMT00000046719.1	48	0.00	0	GATT	NM_001002295	Frame_Shift_Del	8115701	8115704	+1	no_errors	ENST00000379328	ensembl	human	known	69_37n	frame_shift_del	36	16.28	7	DEL	1.000:1.000:1.000:1.000	-
INTS4L1	285905	genome.wustl.edu	37	7	64639826	64639826	+	RNA	SNP	A	A	T			TCGA-B6-A0I5-01A-11W-A100-09	TCGA-B6-A0I5-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f1139266-fade-4d27-ac67-60870e666295	2a5bbcf0-d39c-4f1b-a200-f778e586d42e	g.chr7:64639826A>T	ENST00000587624.1	+	0	709							Q96LV5	IN4L1_HUMAN	integrator complex subunit 4-like 1																		ATCTCTAACAACATCACCCTC	0.458																																						dbGAP											0																																										-	-	-			0					7q11.21	2013-03-26			ENSG00000164669	ENSG00000164669			21925	other	unknown							Standard	XR_426205		Approved	FLJ25037		Q96LV5	OTTHUMG00000156510		7.37:g.64639826A>T		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000587624.1	37	NULL		7																																																																																			INTS4L1	-	-	ENSG00000164669		0.458	INTS4L1-002	KNOWN	non_canonical_conserved|basic	processed_transcript	INTS4L1	HGNC	pseudogene	OTTHUMT00000460821.1	320	0.00	0	A	XR_041315		64639826	64639826	+1	no_errors	ENST00000587624	ensembl	human	known	69_37n	rna	251	33.77	128	SNP	1.000	T
KIAA1755	85449	genome.wustl.edu	37	20	36856567	36856567	+	Silent	SNP	G	G	A			TCGA-B6-A0I5-01A-11W-A100-09	TCGA-B6-A0I5-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f1139266-fade-4d27-ac67-60870e666295	2a5bbcf0-d39c-4f1b-a200-f778e586d42e	g.chr20:36856567G>A	ENST00000279024.4	-	6	2218	c.1947C>T	c.(1945-1947)agC>agT	p.S649S		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	649								p.S649S(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				CCTGCAGGGCGCTGACCAGAC	0.617																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											35.0	36.0	35.0					20																	36856567		2201	4300	6501	-	-	-	SO:0001819	synonymous_variant	0			AB051542	CCDS33467.1	20q11.23	2007-12-07			ENSG00000149633	ENSG00000149633			29372	protein-coding gene	gene with protein product						11214970	Standard	NM_001029864		Approved	RP5-1054A22.3	uc002xhy.1	Q5JYT7	OTTHUMG00000032436	ENST00000279024.4:c.1947C>T	20.37:g.36856567G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9C0A8	Silent	SNP	superfamily_CRAL-TRIO_dom	p.S649	ENST00000279024.4	37	c.1947	CCDS33467.1	20																																																																																			KIAA1755	-	superfamily_CRAL-TRIO_dom	ENSG00000149633		0.617	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1755	HGNC	protein_coding	OTTHUMT00000079144.3	87	0.00	0	G	NM_001029864		36856567	36856567	-1	no_errors	ENST00000279024	ensembl	human	known	69_37n	silent	49	40.96	34	SNP	0.761	A
L3MBTL4	91133	genome.wustl.edu	37	18	6171939	6171939	+	Silent	SNP	A	A	G			TCGA-B6-A0I5-01A-11W-A100-09	TCGA-B6-A0I5-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f1139266-fade-4d27-ac67-60870e666295	2a5bbcf0-d39c-4f1b-a200-f778e586d42e	g.chr18:6171939A>G	ENST00000284898.6	-	13	1184	c.984T>C	c.(982-984)gtT>gtC	p.V328V	L3MBTL4_ENST00000400105.2_Silent_p.V328V|L3MBTL4_ENST00000317931.7_Silent_p.V328V|L3MBTL4_ENST00000535782.1_Silent_p.V141V|L3MBTL4_ENST00000400104.3_Silent_p.V328V	NM_173464.3	NP_775735.2	Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)	328					chromatin modification (GO:0016568)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.V328V(1)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				CATCAAAATGAACCTGTTAAA	0.413																																					Esophageal Squamous(41;748 902 17366 28959 43175)	dbGAP											1	Substitution - coding silent(1)	breast(1)											67.0	56.0	60.0					18																	6171939		2196	4278	6474	-	-	-	SO:0001819	synonymous_variant	0			BC039316	CCDS11839.2	18p11.31-p11.23	2013-01-10			ENSG00000154655	ENSG00000154655		"""Sterile alpha motif (SAM) domain containing"""	26677	protein-coding gene	gene with protein product						14702039	Standard	NM_173464		Approved	FLJ35936, HsT1031	uc010dkt.3	Q8NA19	OTTHUMG00000131573	ENST00000284898.6:c.984T>C	18.37:g.6171939A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MTL8|Q8IXS3	Silent	SNP	pfam_Mbt,pfam_SAM_type1,pfam_Znf_C2HC,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt,pfscan_SAM	p.V328	ENST00000284898.6	37	c.984	CCDS11839.2	18																																																																																			L3MBTL4	-	pfam_Mbt,smart_Mbt,pfscan_Mbt	ENSG00000154655		0.413	L3MBTL4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	L3MBTL4	HGNC	protein_coding	OTTHUMT00000254448.2	237	0.00	0	A	NM_173464		6171939	6171939	-1	no_errors	ENST00000284898	ensembl	human	known	69_37n	silent	322	33.06	159	SNP	0.998	G
MEGF6	1953	genome.wustl.edu	37	1	3427421	3427422	+	Frame_Shift_Ins	INS	-	-	T			TCGA-B6-A0I5-01A-11W-A100-09	TCGA-B6-A0I5-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f1139266-fade-4d27-ac67-60870e666295	2a5bbcf0-d39c-4f1b-a200-f778e586d42e	g.chr1:3427421_3427422insT	ENST00000356575.4	-	10	1385_1386	c.1159_1160insA	c.(1159-1161)accfs	p.T387fs	MEGF6_ENST00000294599.4_Frame_Shift_Ins_p.T282fs	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	387	EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		AGGGTTGTTGGTGCACACCTGC	0.678																																					Ovarian(73;978 3658)	dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB011539	CCDS41237.1	1p36.3	2008-02-05	2006-03-31	2006-03-31	ENSG00000162591	ENSG00000162591			3232	protein-coding gene	gene with protein product		604266	"""EGF-like-domain, multiple 3"""	EGFL3		9693030	Standard	NM_001409		Approved		uc001akl.3	O75095	OTTHUMG00000000611	ENST00000356575.4:c.1160dupA	1.37:g.3427422_3427422dupT	ENSP00000348982:p.Thr387fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4AC86|Q5VV39	Frame_Shift_Ins	INS	pfam_EGF_laminin,pfam_EGF-like_Ca-bd,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EGF-like,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EMI_domain	p.T387fs	ENST00000356575.4	37	c.1160_1159	CCDS41237.1	1																																																																																			MEGF6	-	smart_EGF-like_Ca-bd,smart_EGF-like	ENSG00000162591		0.678	MEGF6-007	KNOWN	basic|appris_principal|CCDS	protein_coding	MEGF6	HGNC	protein_coding	OTTHUMT00000354866.1	11	0.00	0	-	NM_001409		3427421	3427422	-1	no_errors	ENST00000356575	ensembl	human	known	69_37n	frame_shift_ins	4	33.33	2	INS	0.975:0.990	T
MPP7	143098	genome.wustl.edu	37	10	28436429	28436429	+	Missense_Mutation	SNP	A	A	G			TCGA-B6-A0I5-01A-11W-A100-09	TCGA-B6-A0I5-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f1139266-fade-4d27-ac67-60870e666295	2a5bbcf0-d39c-4f1b-a200-f778e586d42e	g.chr10:28436429A>G	ENST00000375732.1	-	5	557	c.298T>C	c.(298-300)Tca>Cca	p.S100P	MPP7_ENST00000375719.3_Missense_Mutation_p.S100P|MPP7_ENST00000481244.1_5'UTR|MPP7_ENST00000540098.1_Missense_Mutation_p.S100P|MPP7_ENST00000337532.5_Missense_Mutation_p.S100P|MPP7_ENST00000445954.2_5'UTR			Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	100	L27 2. {ECO:0000255|PROSITE- ProRule:PRU00365}.				establishment of cell polarity (GO:0030010)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of signal transduction (GO:0009967)|protein localization to adherens junction (GO:0071896)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cell junction (GO:0030054)|mitochondrion (GO:0005739)|MPP7-DLG1-LIN7 complex (GO:0097025)|tight junction (GO:0005923)	protein complex scaffold (GO:0032947)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|signaling adaptor activity (GO:0035591)	p.S100P(1)		autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						TTGGGTTTTGACAGTAGTTTC	0.423																																						dbGAP											1	Substitution - Missense(1)	breast(1)											211.0	174.0	187.0					10																	28436429		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC038105	CCDS7158.1	10p12.1	2004-01-15			ENSG00000150054	ENSG00000150054			26542	protein-coding gene	gene with protein product		610973				14719143	Standard	NM_173496		Approved	FLJ32798	uc001iua.1	Q5T2T1	OTTHUMG00000017868	ENST00000375732.1:c.298T>C	10.37:g.28436429A>G	ENSP00000364884:p.Ser100Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RCC9|B4DWL9|B5MDZ3|D3DRW3|Q5T2T0|Q8IY28	Missense_Mutation	SNP	pfam_Guanylate_kin,pfam_L27_C,pfam_PDZ,pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,prints_SH3_domain,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin	p.S100P	ENST00000375732.1	37	c.298	CCDS7158.1	10	.	.	.	.	.	.	.	.	.	.	A	20.5	3.996649	0.74818	.	.	ENSG00000150054	ENST00000375732;ENST00000337532;ENST00000540098;ENST00000375719	T;T;T;T	0.12984	2.63;2.63;2.63;2.63	6.17	6.17	0.99709	L27, C-terminal (1);L27 (2);	0.401514	0.28130	N	0.016498	T	0.33498	0.0865	M	0.77616	2.38	0.80722	D	1	P	0.45078	0.85	P	0.54706	0.759	T	0.02909	-1.1095	10	0.62326	D	0.03	.	13.7672	0.63002	0.8725:0.1275:0.0:0.0	.	100	Q5T2T1	MPP7_HUMAN	P	100	ENSP00000364884:S100P;ENSP00000337907:S100P;ENSP00000438693:S100P;ENSP00000364871:S100P	ENSP00000337907:S100P	S	-	1	0	MPP7	28476435	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	3.721000	0.54941	2.371000	0.80710	0.533000	0.62120	TCA	MPP7	-	pfam_L27_C,smart_L27,pfscan_L27	ENSG00000150054		0.423	MPP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPP7	HGNC	protein_coding	OTTHUMT00000047345.1	344	0.00	0	A	NM_173496		28436429	28436429	-1	no_errors	ENST00000337532	ensembl	human	known	69_37n	missense	374	31.07	169	SNP	1.000	G
PDAP1	11333	genome.wustl.edu	37	7	98997926	98997926	+	Splice_Site	SNP	C	C	T			TCGA-B6-A0I5-01A-11W-A100-09	TCGA-B6-A0I5-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f1139266-fade-4d27-ac67-60870e666295	2a5bbcf0-d39c-4f1b-a200-f778e586d42e	g.chr7:98997926C>T	ENST00000350498.3	-	4	615	c.335G>A	c.(334-336)cGa>cAa	p.R112Q	PDAP1_ENST00000496335.1_5'Flank	NM_014891.6	NP_055706.1	Q13442	HAP28_HUMAN	PDGFA associated protein 1	112					cell proliferation (GO:0008283)|signal transduction (GO:0007165)		poly(A) RNA binding (GO:0044822)	p.R112Q(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2)|prostate(1)|skin(1)	9	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			GTGATGTTACCGTTCTCTCCT	0.577																																						dbGAP											1	Substitution - Missense(1)	breast(1)											155.0	112.0	126.0					7																	98997926		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			U41745	CCDS5662.1	7q	2008-07-18			ENSG00000106244	ENSG00000106244			14634	protein-coding gene	gene with protein product	"""PDGF associated protein"""	607075				8780057	Standard	NM_014891		Approved	PAP1, PAP, HASPP28	uc003uqe.3	Q13442	OTTHUMG00000154629	ENST00000350498.3:c.335+1G>A	7.37:g.98997926C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	D6W5S5|Q92906	Missense_Mutation	SNP	pfam_Casein_kinase_sb_PP28	p.R112Q	ENST00000350498.3	37	c.335	CCDS5662.1	7	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930491	0.92389	.	.	ENSG00000106244	ENST00000350498	.	.	.	5.14	5.14	0.70334	Casein kinase substrate, phosphoprotein PP28 (1);	0.000000	0.85682	D	0.000000	D	0.83746	0.5321	M	0.87328	2.875	0.80722	D	1	D	0.76494	0.999	D	0.65573	0.936	D	0.85860	0.1409	8	.	.	.	-1.5968	18.9656	0.92695	0.0:1.0:0.0:0.0	.	112	Q13442	HAP28_HUMAN	Q	112	.	.	R	-	2	0	PDAP1	98835862	1.000000	0.71417	1.000000	0.80357	0.706000	0.40770	7.516000	0.81772	2.550000	0.86006	0.462000	0.41574	CGA	PDAP1	-	pfam_Casein_kinase_sb_PP28	ENSG00000106244		0.577	PDAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDAP1	HGNC	protein_coding	OTTHUMT00000336388.2	417	0.24	1	C	NM_014891	Missense_Mutation	98997926	98997926	-1	no_errors	ENST00000350498	ensembl	human	known	69_37n	missense	197	45.88	167	SNP	1.000	T
PIK3CA	5290	genome.wustl.edu	37	3	178936095	178936095	+	Missense_Mutation	SNP	A	A	G	rs397517201		TCGA-B6-A0I5-01A-11W-A100-09	TCGA-B6-A0I5-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f1139266-fade-4d27-ac67-60870e666295	2a5bbcf0-d39c-4f1b-a200-f778e586d42e	g.chr3:178936095A>G	ENST00000263967.3	+	10	1794	c.1637A>G	c.(1636-1638)cAg>cGg	p.Q546R		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	546	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		Q -> E (in BC; unknown pathological significance). {ECO:0000269|PubMed:15520168}.|Q -> K (in OC; unknown pathological significance). {ECO:0000269|PubMed:15520168}.|Q -> P (found in an anaplastic astrocytoma sample; unknown pathological significance). {ECO:0000269|PubMed:15289301}.|Q -> R (in BC; unknown pathological significance). {ECO:0000269|PubMed:16353168}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.Q546R(30)|p.Q546P(18)|p.Q546L(5)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	ATCACTGAGCAGGAGAAAGAT	0.363		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	53	Substitution - Missense(53)	endometrium(18)|breast(17)|large_intestine(10)|central_nervous_system(3)|prostate(2)|upper_aerodigestive_tract(1)|stomach(1)|ovary(1)											61.0	61.0	61.0					3																	178936095		1813	4072	5885	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1637A>G	3.37:g.178936095A>G	ENSP00000263967:p.Gln546Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.Q546R	ENST00000263967.3	37	c.1637	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	A	22.8	4.332178	0.81801	.	.	ENSG00000121879	ENST00000263967	T	0.63417	-0.04	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.75657	0.3879	M	0.64404	1.975	0.80722	D	1	D	0.63046	0.992	D	0.65323	0.934	T	0.76782	-0.2832	10	0.52906	T	0.07	-14.2064	16.1026	0.81194	1.0:0.0:0.0:0.0	.	546	P42336	PK3CA_HUMAN	R	546	ENSP00000263967:Q546R	ENSP00000263967:Q546R	Q	+	2	0	PIK3CA	180418789	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	8.962000	0.93254	2.198000	0.70561	0.383000	0.25322	CAG	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom	ENSG00000121879		0.363	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	95	0.00	0	A			178936095	178936095	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	78	32.76	38	SNP	1.000	G
PKD1L2	114780	genome.wustl.edu	37	16	81193367	81193367	+	RNA	SNP	G	G	T			TCGA-B6-A0I5-01A-11W-A100-09	TCGA-B6-A0I5-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f1139266-fade-4d27-ac67-60870e666295	2a5bbcf0-d39c-4f1b-a200-f778e586d42e	g.chr16:81193367G>T	ENST00000525539.1	-	0	3755				PKD1L2_ENST00000533478.1_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)	p.V1252V(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TCAAATAGTAGACCCCTTCTC	0.587																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											47.0	49.0	48.0					16																	81193367		1999	4180	6179	-	-	-			0			AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81193367G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Silent	SNP	NULL	p.V1252	ENST00000525539.1	37	c.3756		16																																																																																			PKD1L2	-	NULL	ENSG00000166473		0.587	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	PKD1L2	HGNC	polymorphic_pseudogene	OTTHUMT00000387972.2	113	0.00	0	G			81193367	81193367	-1	pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000525539	ensembl	human	known	69_37n	silent	200	18.03	44	SNP	0.025	T
PKHD1L1	93035	genome.wustl.edu	37	8	110442249	110442249	+	Missense_Mutation	SNP	C	C	T	rs200017885		TCGA-B6-A0I5-01A-11W-A100-09	TCGA-B6-A0I5-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f1139266-fade-4d27-ac67-60870e666295	2a5bbcf0-d39c-4f1b-a200-f778e586d42e	g.chr8:110442249C>T	ENST00000378402.5	+	27	3316	c.3212C>T	c.(3211-3213)gCg>gTg	p.A1071V		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1071	IPT/TIG 4.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.A1073V(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CTAGTCTTGGCGATAAGCCCT	0.373										HNSCC(38;0.096)			C|||	1	0.000199681	0.0	0.0	5008	,	,		16995	0.001		0.0	False		,,,				2504	0.0					dbGAP											1	Substitution - Missense(1)	breast(1)											120.0	106.0	110.0					8																	110442249		1869	4112	5981	-	-	-	SO:0001583	missense	0			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.3212C>T	8.37:g.110442249C>T	ENSP00000367655:p.Ala1071Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q567P2|Q9UF27	Missense_Mutation	SNP	pfam_IPT_TIG_rcpt,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT_TIG_rcpt,smart_PA14,smart_PbH1	p.A1071V	ENST00000378402.5	37	c.3212	CCDS47911.1	8	.	.	.	.	.	.	.	.	.	.	C	11.76	1.734196	0.30684	.	.	ENSG00000205038	ENST00000378402	T	0.78707	-1.2	5.44	2.52	0.30459	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.842433	0.10435	N	0.674990	T	0.72930	0.3522	M	0.68593	2.085	0.09310	N	1	P	0.44776	0.843	B	0.37601	0.254	T	0.60306	-0.7289	10	0.54805	T	0.06	.	9.0128	0.36150	0.1581:0.5362:0.3057:0.0	.	1071	Q86WI1	PKHL1_HUMAN	V	1071	ENSP00000367655:A1071V	ENSP00000367655:A1071V	A	+	2	0	PKHD1L1	110511425	0.000000	0.05858	0.001000	0.08648	0.085000	0.17905	0.164000	0.16542	0.289000	0.22422	-0.156000	0.13503	GCG	PKHD1L1	-	pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt	ENSG00000205038		0.373	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKHD1L1	HGNC	protein_coding	OTTHUMT00000381017.1	138	0.00	0	C	NM_177531		110442249	110442249	+1	no_errors	ENST00000378402	ensembl	human	known	69_37n	missense	196	55.73	248	SNP	0.003	T
SFMBT1	51460	genome.wustl.edu	37	3	52954632	52954632	+	Missense_Mutation	SNP	A	A	C			TCGA-B6-A0I5-01A-11W-A100-09	TCGA-B6-A0I5-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f1139266-fade-4d27-ac67-60870e666295	2a5bbcf0-d39c-4f1b-a200-f778e586d42e	g.chr3:52954632A>C	ENST00000394752.3	-	12	1675	c.1293T>G	c.(1291-1293)agT>agG	p.S431R	SFMBT1_ENST00000394750.1_Missense_Mutation_p.S431R|SFMBT1_ENST00000358080.2_Missense_Mutation_p.S431R|SFMBT1_ENST00000296295.6_Missense_Mutation_p.S431R	NM_016329.3	NP_057413.2	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	431					cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|negative regulation of muscle organ development (GO:0048635)|negative regulation of transcription, DNA-templated (GO:0045892)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)	p.S431R(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		TGGATTCCACACTCACAATAC	0.408																																						dbGAP											1	Substitution - Missense(1)	breast(1)											76.0	75.0	76.0					3																	52954632		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF168132	CCDS2867.1	3p21.31	2013-01-10			ENSG00000163935	ENSG00000163935		"""Sterile alpha motif (SAM) domain containing"""	20255	protein-coding gene	gene with protein product		607319				10661410	Standard	NM_016329		Approved	RU1, DKFZp434L243, SFMBT	uc003dgh.3	Q9UHJ3	OTTHUMG00000159052	ENST00000394752.3:c.1293T>G	3.37:g.52954632A>C	ENSP00000378235:p.Ser431Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q402F7|Q96C73|Q9Y4Q9	Missense_Mutation	SNP	pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt	p.S431R	ENST00000394752.3	37	c.1293	CCDS2867.1	3	.	.	.	.	.	.	.	.	.	.	a	15.60	2.880219	0.51801	.	.	ENSG00000163935	ENST00000394752;ENST00000358080;ENST00000296295;ENST00000394750	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	5.4	3.05	0.35203	.	0.145306	0.64402	D	0.000006	T	0.27663	0.0680	N	0.16656	0.425	0.37575	D	0.919576	B;B	0.23377	0.003;0.084	B;B	0.30179	0.009;0.112	T	0.11743	-1.0575	10	0.39692	T	0.17	.	9.7307	0.40359	0.8616:0.0:0.1384:0.0	.	431;431	Q9UHJ3-2;Q9UHJ3	.;SMBT1_HUMAN	R	431	ENSP00000378235:S431R;ENSP00000350789:S431R;ENSP00000296295:S431R;ENSP00000378233:S431R	ENSP00000296295:S431R	S	-	3	2	SFMBT1	52929672	0.997000	0.39634	1.000000	0.80357	0.982000	0.71751	0.692000	0.25482	0.517000	0.28361	-0.266000	0.10368	AGT	SFMBT1	-	pfam_Mbt,smart_Mbt,pfscan_Mbt	ENSG00000163935		0.408	SFMBT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SFMBT1	HGNC	protein_coding	OTTHUMT00000353040.3	134	0.74	1	A	NM_016329		52954632	52954632	-1	no_errors	ENST00000358080	ensembl	human	known	69_37n	missense	94	31.39	43	SNP	1.000	C
U2AF2	11338	genome.wustl.edu	37	19	56173905	56173906	+	Frame_Shift_Ins	INS	-	-	G	rs149491308		TCGA-B6-A0I5-01A-11W-A100-09	TCGA-B6-A0I5-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f1139266-fade-4d27-ac67-60870e666295	2a5bbcf0-d39c-4f1b-a200-f778e586d42e	g.chr19:56173905_56173906insG	ENST00000308924.4	+	6	564_565	c.524_525insG	c.(523-528)ctggggfs	p.LG175fs	U2AF2_ENST00000590551.1_Frame_Shift_Ins_p.LG11fs|CTD-2537I9.12_ENST00000589456.1_RNA|CTD-2537I9.12_ENST00000585940.1_RNA|U2AF2_ENST00000450554.2_Frame_Shift_Ins_p.LG175fs			P26368	U2AF2_HUMAN	U2 small nuclear RNA auxiliary factor 2	175	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	enzyme binding (GO:0019899)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2)	21		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		CAGATGCGCCTGGGGGGGCTGA	0.604																																						dbGAP											0									,	9,4255		0,9,2123					,	4.1	1.0			43	6,8248		0,6,4121	no	frameshift,frameshift	U2AF2	NM_007279.2,NM_001012478.1	,	0,15,6244	A1A1,A1R,RR		0.0727,0.2111,0.1198	,	,		15,12503				-	-	-	SO:0001589	frameshift_variant	0			BC008740	CCDS12933.1, CCDS46197.1	19q13.43	2014-09-17	2006-04-11			ENSG00000063244		"""RNA binding motif (RRM) containing"""	23156	protein-coding gene	gene with protein product	"""U2 small nuclear ribonucleoprotein auxiliary factor (65kD)"", ""splicing factor U2AF 65 kD subunit"", ""U2 snRNP auxiliary factor large subunit"""	191318	"""U2 (RNU2) small nuclear RNA auxiliary factor 2"""			1538748	Standard	XM_006722994		Approved	U2AF65	uc002qlu.3	P26368		ENST00000308924.4:c.531dupG	19.37:g.56173912_56173912dupG	ENSP00000307863:p.Leu175fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96HC5	Frame_Shift_Ins	INS	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_U2AF_lg	p.L178fs	ENST00000308924.4	37	c.524_525	CCDS12933.1	19																																																																																			U2AF2	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_U2AF_lg	ENSG00000063244		0.604	U2AF2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	U2AF2	HGNC	protein_coding	OTTHUMT00000453599.1	59	0.00	0	-	NM_007279		56173905	56173906	+1	no_errors	ENST00000308924	ensembl	human	known	69_37n	frame_shift_ins	18	10.00	2	INS	0.991:0.923	G
ZMYM3	9203	genome.wustl.edu	37	X	70464311	70464311	+	Missense_Mutation	SNP	G	G	A			TCGA-B6-A0I5-01A-11W-A100-09	TCGA-B6-A0I5-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f1139266-fade-4d27-ac67-60870e666295	2a5bbcf0-d39c-4f1b-a200-f778e586d42e	g.chrX:70464311G>A	ENST00000353904.2	-	20	3308	c.3121C>T	c.(3121-3123)Cgg>Tgg	p.R1041W	ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000314425.5_Missense_Mutation_p.R1041W|ZMYM3_ENST00000373988.1_Missense_Mutation_p.R1043W|ZMYM3_ENST00000373984.3_Missense_Mutation_p.R1043W|ZMYM3_ENST00000373998.1_Missense_Mutation_p.R1029W	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	1041					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.R1041W(1)		breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					AGCACCAGCCGCTTTTGACCC	0.557																																						dbGAP											1	Substitution - Missense(1)	breast(1)											31.0	27.0	28.0					X																	70464311		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"""Zinc fingers, MYM type"""	13054	protein-coding gene	gene with protein product		300061	"""zinc finger protein 261"""	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.3121C>T	X.37:g.70464311G>A	ENSP00000343909:p.Arg1041Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DVV3|O15089|Q96E26	Missense_Mutation	SNP	pfam_Znf_MYM,pfam_DUF3504,smart_TRASH	p.R1043W	ENST00000353904.2	37	c.3127	CCDS14409.1	X	.	.	.	.	.	.	.	.	.	.	g	21.3	4.127786	0.77549	.	.	ENSG00000147130	ENST00000314425;ENST00000373998;ENST00000353904;ENST00000373984;ENST00000373988	T;T;T;T;T	0.55930	1.1;0.49;1.1;1.08;1.1	5.09	4.2	0.49525	.	0.000000	0.64402	D	0.000004	T	0.67258	0.2874	L	0.52905	1.665	0.49051	D	0.999747	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.70163	-0.4947	10	0.87932	D	0	-13.9532	13.8085	0.63248	0.0:0.0:0.8424:0.1576	.	1029;1041	Q14202-2;Q14202	.;ZMYM3_HUMAN	W	1041;1029;1041;1043;1043	ENSP00000322845:R1041W;ENSP00000363110:R1029W;ENSP00000343909:R1041W;ENSP00000363096:R1043W;ENSP00000363100:R1043W	ENSP00000322845:R1041W	R	-	1	2	ZMYM3	70381036	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.519000	0.53458	1.078000	0.41014	0.529000	0.55759	CGG	ZMYM3	-	NULL	ENSG00000147130		0.557	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZMYM3	HGNC	protein_coding	OTTHUMT00000057154.1	173	0.00	0	G	NM_201599		70464311	70464311	-1	no_errors	ENST00000373988	ensembl	human	known	69_37n	missense	129	28.18	51	SNP	1.000	A
ZNF454	285676	genome.wustl.edu	37	5	178392823	178392823	+	Missense_Mutation	SNP	G	G	C			TCGA-B6-A0I5-01A-11W-A100-09	TCGA-B6-A0I5-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f1139266-fade-4d27-ac67-60870e666295	2a5bbcf0-d39c-4f1b-a200-f778e586d42e	g.chr5:178392823G>C	ENST00000320129.3	+	5	1721	c.1418G>C	c.(1417-1419)tGt>tCt	p.C473S	ZNF454_ENST00000519564.1_Missense_Mutation_p.C473S	NM_001178090.1|NM_182594.2	NP_001171561.1|NP_872400.2	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	473					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.C473S(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		TGTAAAATCTGTGAGAAAGCC	0.373																																						dbGAP											1	Substitution - Missense(1)	breast(1)											74.0	80.0	78.0					5																	178392823		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK094763	CCDS4441.1	5q35.3	2013-01-08			ENSG00000178187	ENSG00000178187		"""Zinc fingers, C2H2-type"", ""-"""	21200	protein-coding gene	gene with protein product							Standard	NM_182594		Approved	FLJ37444	uc021yjc.1	Q8N9F8	OTTHUMG00000130891	ENST00000320129.3:c.1418G>C	5.37:g.178392823G>C	ENSP00000326249:p.Cys473Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2M1P2|Q2M323	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.C473S	ENST00000320129.3	37	c.1418	CCDS4441.1	5	.	.	.	.	.	.	.	.	.	.	G	14.05	2.419744	0.42918	.	.	ENSG00000178187	ENST00000320129;ENST00000519564	D;D	0.85861	-2.04;-2.04	4.46	4.46	0.54185	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.44688	D	0.000432	D	0.94417	0.8204	H	0.95611	3.695	0.48632	D	0.999683	D	0.89917	1.0	D	0.91635	0.999	D	0.95758	0.8798	10	0.87932	D	0	-8.1466	14.9797	0.71303	0.0:0.0:1.0:0.0	.	473	Q8N9F8	ZN454_HUMAN	S	473	ENSP00000326249:C473S;ENSP00000430354:C473S	ENSP00000326249:C473S	C	+	2	0	ZNF454	178325429	1.000000	0.71417	0.963000	0.40424	0.014000	0.08584	7.622000	0.83099	2.478000	0.83669	0.650000	0.86243	TGT	ZNF454	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000178187		0.373	ZNF454-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF454	HGNC	protein_coding	OTTHUMT00000253476.2	134	0.00	0	G	XM_209718		178392823	178392823	+1	no_errors	ENST00000320129	ensembl	human	known	69_37n	missense	99	26.12	35	SNP	1.000	C
