#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ALPK2	115701	genome.wustl.edu	37	18	56203486	56203486	+	Missense_Mutation	SNP	T	T	A			TCGA-AO-A12A-01A-21D-A10Y-09	TCGA-AO-A12A-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	77e7b41a-d4c8-42ee-ae6e-da15ea3634d9	b6e9d2a3-6c63-406b-b101-c4ee350b90df	g.chr18:56203486T>A	ENST00000361673.3	-	5	4146	c.3933A>T	c.(3931-3933)agA>agT	p.R1311S	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1311						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TATGGCTTTCTCTGCTATCAG	0.532																																						dbGAP											0													104.0	99.0	101.0					18																	56203486		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.3933A>T	18.37:g.56203486T>A	ENSP00000354991:p.Arg1311Ser		Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like	p.R1311S	ENST00000361673.3	37	c.3933	CCDS11966.2	18	.	.	.	.	.	.	.	.	.	.	t	16.85	3.237538	0.58886	.	.	ENSG00000198796	ENST00000361673	T	0.56611	0.45	5.39	4.28	0.50868	.	1.050190	0.07430	N	0.895578	T	0.57373	0.2049	L	0.54323	1.7	0.09310	N	1	D;P	0.57571	0.98;0.689	P;B	0.52217	0.693;0.286	T	0.42207	-0.9465	10	0.52906	T	0.07	0.0622	5.2817	0.15678	0.0:0.149:0.0:0.851	.	1306;1311	Q86TB3-2;Q86TB3	.;ALPK2_HUMAN	S	1311	ENSP00000354991:R1311S	ENSP00000354991:R1311S	R	-	3	2	ALPK2	54354466	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	0.429000	0.21412	0.960000	0.38005	0.375000	0.23000	AGA	ALPK2	-	NULL	ENSG00000198796		0.532	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALPK2	HGNC	protein_coding	OTTHUMT00000256126.1	75	0.00	0	T	NM_052947		56203486	56203486	-1	no_errors	ENST00000361673	ensembl	human	known	69_37n	missense	75	16.67	15	SNP	0.002	A
CFHR3	10878	genome.wustl.edu	37	1	196759282	196759282	+	Missense_Mutation	SNP	C	C	T	rs138675433		TCGA-AO-A12A-01A-21D-A10Y-09	TCGA-AO-A12A-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	77e7b41a-d4c8-42ee-ae6e-da15ea3634d9	b6e9d2a3-6c63-406b-b101-c4ee350b90df	g.chr1:196759282C>T	ENST00000367425.4	+	5	813	c.721C>T	c.(721-723)Ccc>Tcc	p.P241S	CFHR3_ENST00000391985.3_Missense_Mutation_p.P180S	NM_021023.5	NP_066303.2	Q02985	FHR3_HUMAN	complement factor H-related 3	241	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.			P -> S (in Ref. 1; CAA48639). {ECO:0000305}.		blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.P241S(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18						CCAATGCCAGCCCTACTATGA	0.428																																						dbGAP											1	Substitution - Missense(1)	prostate(1)											101.0	148.0	134.0					1																	196759282		1754	4010	5764	-	-	-	SO:0001583	missense	0			X68679	CCDS30958.1, CCDS53453.1	1q32	2014-09-17		2006-02-28	ENSG00000116785	ENSG00000116785		"""Complement system"""	16980	protein-coding gene	gene with protein product	"""complement factor H related 3"""	605336		CFHL3		8428964, 10380701	Standard	NM_021023		Approved	FHR-3, HLF4, FHR3, DOWN16	uc001gtl.3	Q02985	OTTHUMG00000035929	ENST00000367425.4:c.721C>T	1.37:g.196759282C>T	ENSP00000356395:p.Pro241Ser		B4DPR0|Q9UJ16	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.P241S	ENST00000367425.4	37	c.721	CCDS30958.1	1	487	0.222985347985348	102	0.2073170731707317	61	0.1685082872928177	231	0.40384615384615385	93	0.12269129287598944	T	0.008	-1.884513	0.00532	.	.	ENSG00000116785	ENST00000367425;ENST00000391985	T;T	0.65178	-0.14;-0.14	3.27	-6.54	0.01860	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.00012	0.0000	N	0.01668	-0.77	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.09377	0.002;0.004	T	0.02398	-1.1165	8	0.06757	T	0.87	.	1.7706	0.03011	0.5551:0.1977:0.1048:0.1423	.	180;241	B4DPR0;Q02985	.;FHR3_HUMAN	S	241;180	ENSP00000356395:P241S;ENSP00000375845:P180S	ENSP00000356395:P241S	P	+	1	0	CFHR3	195025905	0.000000	0.05858	0.001000	0.08648	0.042000	0.13812	-3.343000	0.00504	-3.939000	0.00089	-1.461000	0.01025	CCC	CFHR3	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000116785		0.428	CFHR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFHR3	HGNC	protein_coding	OTTHUMT00000087505.2	178	0.56	1	C	NM_021023		196759282	196759282	+1	no_errors	ENST00000367425	ensembl	human	known	69_37n	missense	81	22.86	24	SNP	0.000	T
CWF19L2	143884	genome.wustl.edu	37	11	107300004	107300005	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AO-A12A-01A-21D-A10Y-09	TCGA-AO-A12A-10A-01D-A110-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	77e7b41a-d4c8-42ee-ae6e-da15ea3634d9	b6e9d2a3-6c63-406b-b101-c4ee350b90df	g.chr11:107300004_107300005insT	ENST00000282251.5	-	8	980_981	c.953_954insA	c.(952-954)tatfs	p.Y318fs	CWF19L2_ENST00000433523.1_Frame_Shift_Ins_p.Y318fs	NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)	318							catalytic activity (GO:0003824)			endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		CTGTTGTAGCATATCTATCCCT	0.337																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK056905	CCDS8336.2	11q23.1	2005-09-22			ENSG00000152404	ENSG00000152404			26508	protein-coding gene	gene with protein product						14702039	Standard	NM_152434		Approved	FLJ32343	uc010rvp.2	Q2TBE0	OTTHUMG00000152975	ENST00000282251.5:c.954dupA	11.37:g.107300005_107300005dupT	ENSP00000282251:p.Tyr318fs		A4FU66|A4FU67|A4FU68|Q6PHW1|Q96MI1	Frame_Shift_Ins	INS	pfam_Cwf19-like_C_dom-1,pfam_Cwf19-like_C_dom-2,superfamily_HIT-like	p.Y318fs	ENST00000282251.5	37	c.954_953	CCDS8336.2	11																																																																																			CWF19L2	-	NULL	ENSG00000152404		0.337	CWF19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CWF19L2	HGNC	protein_coding	OTTHUMT00000328825.2	350	0.00	0	-	NM_152434		107300004	107300005	-1	no_errors	ENST00000282251	ensembl	human	known	69_37n	frame_shift_ins	268	14.92	47	INS	0.000:0.057	T
ERBB3	2065	genome.wustl.edu	37	12	56479001	56479001	+	Intron	SNP	C	C	T			TCGA-AO-A12A-01A-21D-A10Y-09	TCGA-AO-A12A-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	77e7b41a-d4c8-42ee-ae6e-da15ea3634d9	b6e9d2a3-6c63-406b-b101-c4ee350b90df	g.chr12:56479001C>T	ENST00000267101.3	+	3	861				ERBB3_ENST00000415288.2_Intron|ERBB3_ENST00000411731.2_Nonsense_Mutation_p.Q153*|ERBB3_ENST00000450146.2_Intron	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3						cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CCTCACCCCTCAGCCAGCCCA	0.567																																						dbGAP											0													85.0	84.0	85.0					12																	56479001		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"""lethal congenital contracture syndrome 2"""	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.421+36C>T	12.37:g.56479001C>T			A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Nonsense_Mutation	SNP	pfam_EGF_rcpt_L	p.Q153*	ENST00000267101.3	37	c.457	CCDS31833.1	12	.	.	.	.	.	.	.	.	.	.	C	11.60	1.688031	0.29962	.	.	ENSG00000065361	ENST00000411731	.	.	.	3.59	-0.858	0.10689	.	.	.	.	.	.	.	.	.	.	.	0.28211	N	0.926922	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.026	0.01528	0.1592:0.3867:0.2169:0.2371	.	.	.	.	X	153	.	.	Q	+	1	0	ERBB3	54765268	0.004000	0.15560	0.060000	0.19600	0.040000	0.13550	0.302000	0.19192	-0.313000	0.08728	-0.258000	0.10820	CAG	ERBB3	-	NULL	ENSG00000065361		0.567	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERBB3	HGNC	protein_coding	OTTHUMT00000407619.3	51	0.00	0	C			56479001	56479001	+1	no_errors	ENST00000411731	ensembl	human	known	69_37n	nonsense	48	11.11	6	SNP	0.299	T
FLRT2	23768	genome.wustl.edu	37	14	86089046	86089046	+	Silent	SNP	G	G	A	rs200412416		TCGA-AO-A12A-01A-21D-A10Y-09	TCGA-AO-A12A-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	77e7b41a-d4c8-42ee-ae6e-da15ea3634d9	b6e9d2a3-6c63-406b-b101-c4ee350b90df	g.chr14:86089046G>A	ENST00000330753.4	+	2	1955	c.1188G>A	c.(1186-1188)acG>acA	p.T396T	FLRT2_ENST00000554746.1_Silent_p.T396T	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	396					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		GAAGCTACACGCCTCCAACTC	0.567													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16626	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													77.0	78.0	78.0					14																	86089046		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"""Fibronectin type III domain containing"""	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.1188G>A	14.37:g.86089046G>A			A0AV84|B7ZLP3	Silent	SNP	pfam_Leu-rich_rpt,pfam_Fibronectin_type3,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Fibronectin_type3	p.T396	ENST00000330753.4	37	c.1188	CCDS9877.1	14																																																																																			FLRT2	-	NULL	ENSG00000185070		0.567	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLRT2	HGNC	protein_coding	OTTHUMT00000413193.1	89	0.00	0	G			86089046	86089046	+1	no_errors	ENST00000330753	ensembl	human	known	69_37n	silent	92	10.68	11	SNP	0.000	A
GATA3	2625	genome.wustl.edu	37	10	8111433	8111434	+	Splice_Site	DEL	CA	CA	-	rs111853237		TCGA-AO-A12A-01A-21D-A10Y-09	TCGA-AO-A12A-10A-01D-A110-09	CA	CA					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	77e7b41a-d4c8-42ee-ae6e-da15ea3634d9	b6e9d2a3-6c63-406b-b101-c4ee350b90df	g.chr10:8111433_8111434delCA	ENST00000346208.3	+	5	1376		c.e5-1		GATA3_ENST00000379328.3_Splice_Site|GATA3_ENST00000461472.1_Splice_Site			P23771	GATA3_HUMAN	GATA binding protein 3						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.?(7)		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						TCCCCACTCTCAGTCTGCAGCC	0.48			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""																															dbGAP		Rec	yes		10	10p15	2625	GATA binding protein 3	yes	E	7	Unknown(7)	breast(7)																																								-	-	-	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.922-1CA>-	10.37:g.8111433_8111434delCA			Q5VWG7|Q5VWG8|Q96J16	Splice_Site	DEL	-	e4-2	ENST00000346208.3	37	c.925-3_925-2	CCDS7083.1	10																																																																																			GATA3	-	-	ENSG00000107485		0.480	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	GATA3	HGNC	protein_coding	OTTHUMT00000046719.1	84	0	0	CA	NM_001002295	Intron	8111433	8111434	+1	no_errors	ENST00000379328	ensembl	human	known	69_37n	splice_site_del	59	28.92	24	DEL	1.000:1.000	-
GRIA1	2890	genome.wustl.edu	37	5	153056565	153056565	+	Silent	SNP	G	G	A			TCGA-AO-A12A-01A-21D-A10Y-09	TCGA-AO-A12A-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	77e7b41a-d4c8-42ee-ae6e-da15ea3634d9	b6e9d2a3-6c63-406b-b101-c4ee350b90df	g.chr5:153056565G>A	ENST00000285900.5	+	7	1216	c.873G>A	c.(871-873)gcG>gcA	p.A291A	GRIA1_ENST00000340592.5_Silent_p.A291A|GRIA1_ENST00000521843.2_Silent_p.A222A|GRIA1_ENST00000518783.1_Silent_p.A301A|GRIA1_ENST00000518142.1_Silent_p.A211A|GRIA1_ENST00000448073.4_Silent_p.A301A	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	291					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	ACACCTCTGCGCTCACCTACG	0.527																																						dbGAP											0													85.0	83.0	83.0					5																	153056565		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.873G>A	5.37:g.153056565G>A			B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Silent	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.A301	ENST00000285900.5	37	c.903	CCDS4322.1	5																																																																																			GRIA1	-	pfam_ANF_lig-bd_rcpt	ENSG00000155511		0.527	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIA1	HGNC	protein_coding	OTTHUMT00000252456.3	55	0.00	0	G			153056565	153056565	+1	no_errors	ENST00000448073	ensembl	human	known	69_37n	silent	56	13.85	9	SNP	0.889	A
KDM6A	7403	genome.wustl.edu	37	X	44942776	44942776	+	Missense_Mutation	SNP	T	T	C			TCGA-AO-A12A-01A-21D-A10Y-09	TCGA-AO-A12A-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	77e7b41a-d4c8-42ee-ae6e-da15ea3634d9	b6e9d2a3-6c63-406b-b101-c4ee350b90df	g.chrX:44942776T>C	ENST00000377967.4	+	23	3397	c.3356T>C	c.(3355-3357)cTa>cCa	p.L1119P	KDM6A_ENST00000382899.4_Missense_Mutation_p.L1126P|KDM6A_ENST00000543216.1_Missense_Mutation_p.L1040P|KDM6A_ENST00000536777.1_Missense_Mutation_p.L1074P	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	1119	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						GGAAATCTTCTAAGCCATGTT	0.398			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""																																Colon(129;1273 1667 15230 27352 52914)	dbGAP		Rec	yes		X	Xp11.2	7403	"""lysine (K)-specific demethylase 6A, UTX"""		"""E, L"""	6	Whole gene deletion(6)	oesophagus(2)|breast(2)|pancreas(2)											150.0	108.0	123.0					X																	44942776		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"""Chromatin-modifying enzymes / K-demethylases"", ""Tetratricopeptide (TTC) repeat domain containing"""	12637	protein-coding gene	gene with protein product		300128	"""ubiquitously transcribed tetratricopeptide repeat, X chromosome"""	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.3356T>C	X.37:g.44942776T>C	ENSP00000367203:p.Leu1119Pro		Q52LL9|Q5JVQ7	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_TPR-1,smart_TPR_repeat,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.L1126P	ENST00000377967.4	37	c.3377	CCDS14265.1	X	.	.	.	.	.	.	.	.	.	.	T	22.7	4.325500	0.81580	.	.	ENSG00000147050	ENST00000334516;ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216	T;T;T;T	0.74737	-0.87;-0.87;-0.87;-0.87	5.24	5.24	0.73138	Transcription factor jumonji/aspartyl beta-hydroxylase (2);	0.072326	0.64402	D	0.000020	D	0.89223	0.6654	M	0.93763	3.455	0.80722	D	1	D;P;P;D;D	0.71674	0.998;0.873;0.886;0.967;0.975	D;P;P;P;P	0.79784	0.993;0.628;0.732;0.886;0.905	D	0.91926	0.5551	10	0.87932	D	0	-2.7918	14.2463	0.65990	0.0:0.0:0.0:1.0	.	758;1126;1074;1171;1119	B4E0L8;F8W8R6;F5H6S1;B7ZKN5;O15550	.;.;.;.;KDM6A_HUMAN	P	816;1119;1074;1126;1040	ENSP00000367203:L1119P;ENSP00000437405:L1074P;ENSP00000372355:L1126P;ENSP00000443078:L1040P	ENSP00000334340:L816P	L	+	2	0	KDM6A	44827720	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.604000	0.82830	1.742000	0.51746	0.472000	0.43445	CTA	KDM6A	-	smart_JmjC_dom,pfscan_JmjC_dom	ENSG00000147050		0.398	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM6A	HGNC	protein_coding	OTTHUMT00000056324.1	192	0.00	0	T	NM_021140		44942776	44942776	+1	no_errors	ENST00000382899	ensembl	human	known	69_37n	missense	134	27.17	50	SNP	1.000	C
KRTAP10-4	386672	genome.wustl.edu	37	21	45993851	45993851	+	Silent	SNP	C	C	T	rs201895065		TCGA-AO-A12A-01A-21D-A10Y-09	TCGA-AO-A12A-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	77e7b41a-d4c8-42ee-ae6e-da15ea3634d9	b6e9d2a3-6c63-406b-b101-c4ee350b90df	g.chr21:45993851C>T	ENST00000400374.3	+	1	246	c.216C>T	c.(214-216)tgC>tgT	p.C72C	TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_5'Flank	NM_198687.1	NP_941960.1	P60372	KR104_HUMAN	keratin associated protein 10-4	72	36 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1)	18						CAGTGACCTGCGAGCCCAGCC	0.721																																						dbGAP											0													20.0	38.0	32.0					21																	45993851		1993	4191	6184	-	-	-	SO:0001819	synonymous_variant	0			AB076351	CCDS42957.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000215454	ENSG00000215454		"""Keratin associated proteins"""	20521	protein-coding gene	gene with protein product			"""keratin associated protein 18-4"""	KRTAP18-4			Standard	NM_198687		Approved	KRTAP18.4, KAP10.4	uc002zfk.1	P60372	OTTHUMG00000057641	ENST00000400374.3:c.216C>T	21.37:g.45993851C>T			Q08AS0	Silent	SNP	NULL	p.C72	ENST00000400374.3	37	c.216	CCDS42957.1	21																																																																																			KRTAP10-4	-	NULL	ENSG00000215454		0.721	KRTAP10-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP10-4	HGNC	protein_coding	OTTHUMT00000128045.1	14	0.00	0	C	NM_198687		45993851	45993851	+1	no_errors	ENST00000400374	ensembl	human	known	69_37n	silent	31	24.39	10	SNP	0.141	T
MUC12	10071	genome.wustl.edu	37	7	100647276	100647276	+	Missense_Mutation	SNP	C	C	A	rs202226352	byFrequency	TCGA-AO-A12A-01A-21D-A10Y-09	TCGA-AO-A12A-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	77e7b41a-d4c8-42ee-ae6e-da15ea3634d9	b6e9d2a3-6c63-406b-b101-c4ee350b90df	g.chr7:100647276C>A	ENST00000379442.3	+	5	13861	c.13861C>A	c.(13861-13863)Cct>Act	p.P4621T	MUC12_ENST00000536621.1_Missense_Mutation_p.P4478T			Q9UKN1	MUC12_HUMAN	mucin 12, cell surface associated	4621	28 X 19 AA approximate tandem repeats of E-E-S-X-X-X-H-X-X-P-X-X-T-X-T-X-X-X-P.|Ser-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|regulation of cell growth (GO:0001558)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)				breast(6)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)|stomach(13)	25						AACACACTTCCCTGACAGCTC	0.542																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			AF147790, AF147791	CCDS55139.1	7q22	2007-01-17	2006-03-14		ENSG00000205277	ENSG00000205277		"""Mucins"""	7510	protein-coding gene	gene with protein product		604609	"""mucin 11"""	MUC11		10463611	Standard	NM_001164462		Approved		uc003uxo.3	Q9UKN1	OTTHUMG00000157042	ENST00000379442.3:c.13861C>A	7.37:g.100647276C>A	ENSP00000368755:p.Pro4621Thr		A6ND38|F5GWV9|Q9UKN0	Missense_Mutation	SNP	pfam_SEA	p.P4621T	ENST00000379442.3	37	c.13861		7	.	.	.	.	.	.	.	.	.	.	C	0.646	-0.811242	0.02798	.	.	ENSG00000205277	ENST00000379442;ENST00000536621	T;T	0.14893	2.48;2.47	0.917	-0.282	0.12878	.	.	.	.	.	T	0.06325	0.0163	N	0.08118	0	0.80722	P	0.0	.	.	.	.	.	.	T	0.35871	-0.9771	6	0.25751	T	0.34	.	1.6623	0.02794	0.3368:0.4106:0.0:0.2526	.	.	.	.	T	4621;4478	ENSP00000368755:P4621T;ENSP00000441929:P4478T	ENSP00000368755:P4621T	P	+	1	0	MUC12	100433996	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.639000	0.05446	-0.109000	0.12044	0.430000	0.28490	CCT	MUC12	-	NULL	ENSG00000205277		0.542	MUC12-001	NOVEL	basic|appris_candidate_longest	protein_coding	MUC12	HGNC	protein_coding	OTTHUMT00000347234.1	112	0.00	0	C	XM_379904		100647276	100647276	+1	no_errors	ENST00000379442	ensembl	human	known	69_37n	missense	118	11.28	15	SNP	0.001	A
OR2T2	401992	genome.wustl.edu	37	1	248616883	248616883	+	Missense_Mutation	SNP	T	T	A	rs143551105	byFrequency	TCGA-AO-A12A-01A-21D-A10Y-09	TCGA-AO-A12A-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	77e7b41a-d4c8-42ee-ae6e-da15ea3634d9	b6e9d2a3-6c63-406b-b101-c4ee350b90df	g.chr1:248616883T>A	ENST00000342927.3	+	1	807	c.785T>A	c.(784-786)cTg>cAg	p.L262Q		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	262						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ACCAACGTGCTGCCCCACTCC	0.537																																						dbGAP											0													21.0	19.0	20.0					1																	248616883		2179	4264	6443	-	-	-	SO:0001583	missense	0			BK004462	CCDS31116.1	1q44	2012-08-09	2002-11-13	2002-11-15	ENSG00000196240	ENSG00000196240		"""GPCR / Class A : Olfactory receptors"""	14725	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily T, member 2 pseudogene"""	OR2T2P		14983052	Standard	NM_001004136		Approved		uc001iek.1	Q6IF00	OTTHUMG00000040480	ENST00000342927.3:c.785T>A	1.37:g.248616883T>A	ENSP00000343062:p.Leu262Gln		B2RNM1|B9EH01	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.L262Q	ENST00000342927.3	37	c.785	CCDS31116.1	1	.	.	.	.	.	.	.	.	.	.	t	9.878	1.200859	0.22121	.	.	ENSG00000196240	ENST00000342927	T	0.37584	1.19	3.5	2.26	0.28386	GPCR, rhodopsin-like superfamily (1);	0.000000	0.35291	N	0.003307	T	0.28962	0.0719	N	0.04260	-0.245	0.19300	N	0.999975	D	0.89917	1.0	D	0.97110	1.0	T	0.06092	-1.0846	10	0.30078	T	0.28	.	5.2576	0.15555	0.1723:0.0:0.1769:0.6508	.	262	Q6IF00	OR2T2_HUMAN	Q	262	ENSP00000343062:L262Q	ENSP00000343062:L262Q	L	+	2	0	OR2T2	246683506	0.000000	0.05858	0.864000	0.33941	0.263000	0.26337	0.284000	0.18864	1.431000	0.47355	0.374000	0.22700	CTG	OR2T2	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam	ENSG00000196240		0.537	OR2T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T2	HGNC	protein_coding	OTTHUMT00000097421.1	34	0.00	0	T	NM_001004136		248616883	248616883	+1	no_errors	ENST00000342927	ensembl	human	known	69_37n	missense	122	12.86	18	SNP	0.339	A
OTOGL	283310	genome.wustl.edu	37	12	80750196	80750196	+	Splice_Site	SNP	G	G	T			TCGA-AO-A12A-01A-21D-A10Y-09	TCGA-AO-A12A-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	77e7b41a-d4c8-42ee-ae6e-da15ea3634d9	b6e9d2a3-6c63-406b-b101-c4ee350b90df	g.chr12:80750196G>T	ENST00000547103.1	+	47	5750	c.5744G>T	c.(5743-5745)gGa>gTa	p.G1915V	OTOGL_ENST00000458043.2_Splice_Site_p.G1927V|OTOGL_ENST00000546620.1_5'UTR			Q3ZCN5	OTOGL_HUMAN	otogelin-like	1915	Cys-rich.				L-arabinose metabolic process (GO:0046373)	extracellular region (GO:0005576)	alpha-L-arabinofuranosidase activity (GO:0046556)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TTATTTATAGGATGTGACACG	0.368																																						dbGAP											0													90.0	84.0	86.0					12																	80750196		1827	4084	5911	-	-	-	SO:0001630	splice_region_variant	0			AK096852		12q21.31	2011-02-11	2011-02-11	2011-02-11	ENSG00000165899	ENSG00000165899			26901	protein-coding gene	gene with protein product		614925	"""chromosome 12 open reading frame 64"""	C12orf64			Standard	NM_173591		Approved	FLJ90579	uc001szd.3	Q3ZCN5	OTTHUMG00000150509	ENST00000547103.1:c.5744-1G>T	12.37:g.80750196G>T			F8W0C3|Q495U8|Q8N8G5|Q8NC28	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_AbfB,superfamily_AbfB,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C	p.G1927V	ENST00000547103.1	37	c.5780		12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.35|14.35	2.509479|2.509479	0.44660|0.44660	.|.	.|.	ENSG00000165899|ENSG00000165899	ENST00000298820|ENST00000547103;ENST00000458043	.|T;T	.|0.12465	.|2.68;2.68	5.17|5.17	2.82|2.82	0.32997|0.32997	.|.	.|.	.|.	.|.	.|.	T|T	0.06050|0.06050	0.0157|0.0157	N|N	0.04880|0.04880	-0.145|-0.145	0.58432|0.58432	D|D	0.999999|0.999999	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.34750|0.34750	-0.9816|-0.9816	5|7	.|0.27082	.|T	.|0.32	.|.	2.4806|2.4806	0.04587|0.04587	0.2859:0.2985:0.4156:0.0|0.2859:0.2985:0.4156:0.0	.|.	.|.	.|.	.|.	Y|V	370|1915;1927	.|ENSP00000447211:G1915V;ENSP00000400895:G1927V	.|ENSP00000400895:G1927V	D|G	+|+	1|2	0|0	OTOGL|OTOGL	79274327|79274327	1.000000|1.000000	0.71417|0.71417	0.669000|0.669000	0.29828|0.29828	0.708000|0.708000	0.40852|0.40852	5.947000|5.947000	0.70242|0.70242	2.409000|2.409000	0.81822|0.81822	0.557000|0.557000	0.71058|0.71058	GAT|GGA	OTOGL	-	NULL	ENSG00000165899		0.368	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	OTOGL	HGNC	protein_coding	OTTHUMT00000407438.1	129	0.00	0	G	NM_173591	Missense_Mutation	80750196	80750196	+1	no_errors	ENST00000458043	ensembl	human	known	69_37n	missense	54	19.40	13	SNP	0.982	T
PIK3CA	5290	genome.wustl.edu	37	3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	rs121913273		TCGA-AO-A12A-01A-21D-A10Y-09	TCGA-AO-A12A-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	77e7b41a-d4c8-42ee-ae6e-da15ea3634d9	b6e9d2a3-6c63-406b-b101-c4ee350b90df	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> K (in CLOVE, KERSEB, CRC and BC; also found in glioblastoma multiforme and endometrial carcinoma; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N- terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|E -> Q (found in an endometrial carcinoma sample; unknown pathological significance). {ECO:0000269|PubMed:16322209}.|E -> V (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.E542K(545)|p.E542Q(10)		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)	TCCTCTCTCTGAAATCACTGA	0.333	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	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"""	555	Substitution - Missense(555)	breast(176)|large_intestine(166)|urinary_tract(45)|endometrium(37)|skin(19)|lung(18)|stomach(16)|ovary(16)|thyroid(14)|upper_aerodigestive_tract(9)|central_nervous_system(7)|cervix(6)|liver(6)|oesophagus(5)|penis(4)|kidney(3)|soft_tissue(2)|haematopoietic_and_lymphoid_tissue(2)|prostate(2)|biliary_tract(1)|pituitary(1)											56.0	56.0	56.0					3																	178936082		1809	4069	5878	-	-	-	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.1624G>A	3.37:g.178936082G>A	ENSP00000263967:p.Glu542Lys		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.E542K	ENST00000263967.3	37	c.1624	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	34	5.360420	0.95877	.	.	ENSG00000121879	ENST00000263967	T	0.62105	0.05	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	0.69287	0.3094	L	0.41356	1.27	0.80722	D	1	D	0.65815	0.995	D	0.63192	0.912	T	0.60296	-0.7291	10	0.09843	T	0.71	-23.9623	20.0024	0.97423	0.0:0.0:1.0:0.0	.	542	P42336	PK3CA_HUMAN	K	542	ENSP00000263967:E542K	ENSP00000263967:E542K	E	+	1	0	PIK3CA	180418776	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAA	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom	ENSG00000121879		0.333	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	162	0.00	0	G			178936082	178936082	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	69	36.94	41	SNP	1.000	A
POLH	5429	genome.wustl.edu	37	6	43571740	43571740	+	Silent	SNP	G	G	A			TCGA-AO-A12A-01A-21D-A10Y-09	TCGA-AO-A12A-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	77e7b41a-d4c8-42ee-ae6e-da15ea3634d9	b6e9d2a3-6c63-406b-b101-c4ee350b90df	g.chr6:43571740G>A	ENST00000372236.4	+	7	1171	c.876G>A	c.(874-876)gaG>gaA	p.E292E	POLH_ENST00000372226.1_Silent_p.E292E|POLH_ENST00000535400.1_Silent_p.E230E	NM_006502.2	NP_006493.1	O75417	DPOLQ_HUMAN	polymerase (DNA directed), eta	0					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			breast(4)|endometrium(5)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_cancers(18;1.89e-05)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000753)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			ATTTTGGGGAGAAGAATGGGT	0.393								DNA polymerases (catalytic subunits)	Xeroderma Pigmentosum																													dbGAP											0													93.0	92.0	93.0					6																	43571740		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	AB024313	CCDS4902.1	6p21	2014-09-17			ENSG00000170734	ENSG00000170734			9181	protein-coding gene	gene with protein product		603968				10385124, 10398605	Standard	NM_006502		Approved	RAD30A, XP-V	uc003ovq.4	Q9Y253	OTTHUMG00000014743	ENST00000372236.4:c.876G>A	6.37:g.43571740G>A			O95160|Q6VMB5	Silent	SNP	pfam_DNA_repair_prot_UmuC-like,pfam_DNA_pol_Y-fam_little_finger,superfamily_DNA_pol_Y-fam_little_finger,pirsf_DNA_pol_eta,pfscan_DNA_repair_prot_UmuC-like_N	p.E292	ENST00000372236.4	37	c.876	CCDS4902.1	6																																																																																			POLH	-	pfam_DNA_pol_Y-fam_little_finger,pirsf_DNA_pol_eta	ENSG00000170734		0.393	POLH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLH	HGNC	protein_coding	OTTHUMT00000040666.1	209	0.00	0	G	NM_006502		43571740	43571740	+1	no_errors	ENST00000372236	ensembl	human	known	69_37n	silent	144	11.11	18	SNP	0.884	A
ZNF93	81931	genome.wustl.edu	37	19	20026206	20026206	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A12A-01A-21D-A10Y-09	TCGA-AO-A12A-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	77e7b41a-d4c8-42ee-ae6e-da15ea3634d9	b6e9d2a3-6c63-406b-b101-c4ee350b90df	g.chr19:20026206G>A	ENST00000343769.5	+	2	149	c.121G>A	c.(121-123)Gtc>Atc	p.V41I	ZNF93_ENST00000591366.1_Missense_Mutation_p.V41I|ZNF93_ENST00000592160.1_Missense_Mutation_p.V41I|AC007204.2_ENST00000592245.1_lincRNA	NM_031218.3	NP_112495.2	P35789	ZNF93_HUMAN	zinc finger protein 93	41	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	24						CAGTAACCTGGTCTTCCTTGG	0.363																																						dbGAP											0													119.0	121.0	120.0					19																	20026206		2203	4300	6503	-	-	-	SO:0001583	missense	0			M61873	CCDS32973.1	19p12	2014-02-12	2006-05-12		ENSG00000184635	ENSG00000184635		"""Zinc fingers, C2H2-type"", ""-"""	13169	protein-coding gene	gene with protein product		603975	"""zinc finger protein 505"", ""zinc finger protein 93 (HTF34)"""	ZNF505		8467795, 2023909	Standard	NM_031218		Approved	HPF34, TF34, FLJ12488	uc002non.3	P35789	OTTHUMG00000182371	ENST00000343769.5:c.121G>A	19.37:g.20026206G>A	ENSP00000342002:p.Val41Ile		A6NMY2|B9EGT2|Q8N8Q4|Q9H9X5|Q9Y2N8	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.V41I	ENST00000343769.5	37	c.121	CCDS32973.1	19	.	.	.	.	.	.	.	.	.	.	g	14.28	2.487635	0.44249	.	.	ENSG00000184635	ENST00000343769;ENST00000427325	T	0.02197	4.4	0.832	0.832	0.18867	Krueppel-associated box (4);	.	.	.	.	T	0.06917	0.0176	M	0.63428	1.95	0.19575	N	0.999963	P;P	0.45902	0.868;0.724	P;B	0.59546	0.859;0.292	T	0.26503	-1.0101	9	0.72032	D	0.01	.	4.7551	0.13080	0.0:0.0:1.0:0.0	.	41;41	P35789;P35789-2	ZNF93_HUMAN;.	I	41	ENSP00000342002:V41I	ENSP00000342002:V41I	V	+	1	0	ZNF93	19887206	0.069000	0.21087	0.483000	0.27378	0.485000	0.33311	0.367000	0.20382	0.171000	0.19730	0.174000	0.16983	GTC	ZNF93	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000184635		0.363	ZNF93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF93	HGNC	protein_coding	OTTHUMT00000460808.2	403	0.00	0	G	NM_031218		20026206	20026206	+1	no_errors	ENST00000343769	ensembl	human	known	69_37n	missense	211	11.34	27	SNP	0.898	A
SRRM5	100170229	genome.wustl.edu	37	19	44117260	44117260	+	Missense_Mutation	SNP	C	C	A			TCGA-AO-A12A-01A-21D-A10Y-09	TCGA-AO-A12A-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	77e7b41a-d4c8-42ee-ae6e-da15ea3634d9	b6e9d2a3-6c63-406b-b101-c4ee350b90df	g.chr19:44117260C>A	ENST00000607544.1	+	3	1309	c.987C>A	c.(985-987)caC>caA	p.H329Q	ZNF428_ENST00000300811.3_Intron|SRRM5_ENST00000526798.1_Missense_Mutation_p.H344Q|SRRM5_ENST00000417606.1_Missense_Mutation_p.H329Q			B3KS81	SRRM5_HUMAN	serine/arginine repetitive matrix 5	329	Ser-rich.									endometrium(11)|kidney(2)|skin(1)|stomach(1)	15						TGGGAAGACACAGCCAGTCTA	0.507																																						dbGAP											0													37.0	39.0	38.0					19																	44117260		692	1591	2283	-	-	-	SO:0001583	missense	0			AK297891	CCDS46095.1	19q13.31	2013-09-20			ENSG00000226763	ENSG00000226763			37248	protein-coding gene	gene with protein product							Standard	NM_001145641		Approved		uc010xwr.2	B3KS81	OTTHUMG00000165480	ENST00000607544.1:c.987C>A	19.37:g.44117260C>A	ENSP00000476253:p.His329Gln		B4DNF0	Missense_Mutation	SNP	NULL	p.H344Q	ENST00000607544.1	37	c.1032	CCDS46095.1	19	.	.	.	.	.	.	.	.	.	.	C	2.404	-0.336989	0.05278	.	.	ENSG00000226763	ENST00000526798;ENST00000417606	.	.	.	4.13	-8.09	0.01090	.	.	.	.	.	T	0.20941	0.0504	L	0.32530	0.975	0.26195	N	0.979531	B	0.25312	0.123	B	0.18871	0.023	T	0.21759	-1.0236	8	0.10111	T	0.7	.	6.4974	0.22150	0.2152:0.387:0.0:0.3978	.	329	B3KS81	SRRM5_HUMAN	Q	344;329	.	ENSP00000414512:H329Q	H	+	3	2	SRRM5	48809100	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-4.100000	0.00295	-2.056000	0.00898	-1.934000	0.00508	CAC	SRRM5	-	NULL	ENSG00000226763		0.507	SRRM5-001	KNOWN	alternative_5_UTR|upstream_ATG|basic|appris_candidate|readthrough_transcript|CCDS	protein_coding	SRRM5	HGNC	protein_coding	OTTHUMT00000384398.2	58	0.00	0	C	NM_001145641		44117260	44117260	+1	no_errors	ENST00000526798	ensembl	human	known	69_37n	missense	63	10.00	7	SNP	0.001	A
