#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
PTGES3L	100885848	genome.wustl.edu	37	17	41123700	41123700	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XA-01A-11D-A14G-09	TCGA-D8-A1XA-10A-01D-A14G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a362780b-8917-4438-9693-ec9fa84c352a	81ee32ae-fc65-4e2c-bbac-2e22214f817b	g.chr17:41123700G>A	ENST00000453594.1	-	4	677	c.332C>T	c.(331-333)tCt>tTt	p.S111F	PTGES3L-AARSD1_ENST00000409399.1_Missense_Mutation_p.S144F|PTGES3L_ENST00000409446.3_Missense_Mutation_p.S106F|PTGES3L-AARSD1_ENST00000360221.4_Missense_Mutation_p.S83F|PTGES3L-AARSD1_ENST00000409103.1_Intron|PTGES3L-AARSD1_ENST00000421990.2_Missense_Mutation_p.S144F	NM_001142653.1|NM_001261430.1	NP_001136125.1|NP_001248359.1	E9PB15	PTG3L_HUMAN	prostaglandin E synthase 3 (cytosolic)-like	111	CS. {ECO:0000255|PROSITE- ProRule:PRU00547}.																AAAGTCCACAGACAGCCACAC	0.547																																						dbGAP											0													123.0	102.0	109.0					17																	41123700		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS45692.1	17q21.31	2012-10-05				ENSG00000267060			43943	protein-coding gene	gene with protein product							Standard	NM_001142653		Approved			E9PB15	OTTHUMG00000180906	ENST00000453594.1:c.332C>T	17.37:g.41123700G>A	ENSP00000394415:p.Ser111Phe			Missense_Mutation	SNP	pfam_tRNA_SAD,pfam_CS_domain,pfam_Ala-tRNA-synth_IIc_N,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_HSP20-like_chaperone,smart_tRNA_SAD,pfscan_CS-like_domain,pfscan_Ala-tRNA-synth_IIc_core	p.S144F	ENST00000453594.1	37	c.431		17	.	.	.	.	.	.	.	.	.	.	G	18.37	3.608712	0.66558	.	.	ENSG00000108825	ENST00000360221;ENST00000409399;ENST00000421990;ENST00000454303;ENST00000453594;ENST00000409446	T;T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47;1.47	4.96	3.97	0.46021	.	0.000000	0.85682	D	0.000000	T	0.41926	0.1180	L	0.42245	1.32	0.38049	D	0.935700	B;B;P;D	0.89917	0.238;0.2;0.889;1.0	B;B;B;D	0.66084	0.223;0.142;0.337;0.941	T	0.55970	-0.8056	9	0.62326	D	0.03	-12.9266	8.9151	0.35576	0.0779:0.151:0.7711:0.0	.	111;106;144;101	E9PB15;B9A003;B4DI73;B3KSP9	.;.;.;.	F	83;144;144;83;111;106	ENSP00000353355:S83F;ENSP00000386621:S144F;ENSP00000409924:S144F;ENSP00000407951:S83F;ENSP00000394415:S111F;ENSP00000386902:S106F	ENSP00000353355:S83F	S	-	2	0	AARSD1	38377226	1.000000	0.71417	0.995000	0.50966	0.995000	0.86356	3.115000	0.50391	1.281000	0.44480	0.542000	0.68232	TCT	AARSD1	-	superfamily_HSP20-like_chaperone	ENSG00000108825		0.547	PTGES3L-201	KNOWN	basic|appris_candidate_longest	protein_coding	AARSD1	HGNC	protein_coding		92	0.00	0	G	NM_001142653		41123700	41123700	-1	no_errors	ENST00000409399	ensembl	human	known	69_37n	missense	51	40.70	35	SNP	1.000	A
AKR1C2	1646	genome.wustl.edu	37	10	5042749	5042749	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XA-01A-11D-A14G-09	TCGA-D8-A1XA-10A-01D-A14G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a362780b-8917-4438-9693-ec9fa84c352a	81ee32ae-fc65-4e2c-bbac-2e22214f817b	g.chr10:5042749G>A	ENST00000380753.4	-	3	549	c.362C>T	c.(361-363)tCt>tTt	p.S121F	AKR1C2_ENST00000407674.1_Missense_Mutation_p.S121F|AKR1C2_ENST00000455190.1_Missense_Mutation_p.S121F|AKR1C2_ENST00000421196.3_Missense_Mutation_p.S121F	NM_205845.2	NP_995317.1	P52895	AK1C2_HUMAN	aldo-keto reductase family 1, member C2	121					cellular response to jasmonic acid stimulus (GO:0071395)|daunorubicin metabolic process (GO:0044597)|digestion (GO:0007586)|doxorubicin metabolic process (GO:0044598)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway (GO:0007186)|oxidation-reduction process (GO:0055114)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein kinase B signaling (GO:0051897)|progesterone metabolic process (GO:0042448)|prostaglandin metabolic process (GO:0006693)|response to prostaglandin (GO:0034694)|steroid metabolic process (GO:0008202)	cytoplasm (GO:0005737)	alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|bile acid binding (GO:0032052)|carboxylic acid binding (GO:0031406)|ketosteroid monooxygenase activity (GO:0047086)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|phenanthrene 9,10-monooxygenase activity (GO:0018636)|prostaglandin F receptor activity (GO:0004958)|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity (GO:0047115)			breast(1)|large_intestine(5)|lung(3)|skin(1)	10					Ursodeoxycholic acid(DB01586)	TACCTTTACAGACACTGGAAA	0.378																																						dbGAP											0													108.0	100.0	103.0					10																	5042749		2203	4300	6503	-	-	-	SO:0001583	missense	0			L32592	CCDS7062.1, CCDS44350.1	10p15-p14	2014-01-29	2012-12-04		ENSG00000151632	ENSG00000151632	1.3.1.20, 1.1.1.213	"""Aldo-keto reductases"""	385	protein-coding gene	gene with protein product	"""dihydrodiol dehydrogenase 2; bile acid binding protein; 3-alpha hydroxysteroid dehydrogenase, type III"""	600450	"""aldo-keto reductase family 1, member C2 (dihydrodiol dehydrogenase 2; bile acid binding protein; 3-alpha hydroxysteroid dehydrogenase, type III)"", ""testicular 17,20-desmolase deficiency"""	DDH2, TDD		9716498, 21802064	Standard	NM_001354		Approved	DD, BABP, DD2, HAKRD, MCDR2	uc001iht.3	P52895	OTTHUMG00000017584	ENST00000380753.4:c.362C>T	10.37:g.5042749G>A	ENSP00000370129:p.Ser121Phe		A8K2N9|B4DKR9|Q14133|Q5SR16|Q7M4N1|Q96A71	Missense_Mutation	SNP	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr	p.S121F	ENST00000380753.4	37	c.362	CCDS7062.1	10	.	.	.	.	.	.	.	.	.	.	G	12.23	1.875947	0.33162	.	.	ENSG00000151632	ENST00000380753;ENST00000421196;ENST00000407674;ENST00000455190	T;T;T;T	0.24350	1.86;1.86;1.86;1.86	3.0	3.0	0.34707	NADP-dependent oxidoreductase domain (3);	1.267120	0.05488	N	0.556124	T	0.38692	0.1050	L	0.41573	1.285	0.09310	N	1	P;B;P	0.44478	0.836;0.093;0.606	P;B;P	0.54026	0.74;0.083;0.658	T	0.40813	-0.9543	10	0.87932	D	0	.	11.7899	0.52063	0.0:0.0:1.0:0.0	.	121;121;121	B4DKR9;B4DK69;P52895	.;.;AK1C2_HUMAN	F	121	ENSP00000370129:S121F;ENSP00000392694:S121F;ENSP00000385221:S121F;ENSP00000408440:S121F	ENSP00000370129:S121F	S	-	2	0	AKR1C2	5032749	0.160000	0.22878	0.002000	0.10522	0.004000	0.04260	2.949000	0.49074	1.657000	0.50732	0.514000	0.50259	TCT	AKR1C2	-	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom	ENSG00000151632		0.378	AKR1C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKR1C2	HGNC	protein_coding	OTTHUMT00000046531.1	122	0.00	0	G	NM_001354		5042749	5042749	-1	no_errors	ENST00000380753	ensembl	human	known	69_37n	missense	62	39.22	40	SNP	0.003	A
ATF1	466	genome.wustl.edu	37	12	51203349	51203349	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XA-01A-11D-A14G-09	TCGA-D8-A1XA-10A-01D-A14G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a362780b-8917-4438-9693-ec9fa84c352a	81ee32ae-fc65-4e2c-bbac-2e22214f817b	g.chr12:51203349A>G	ENST00000262053.3	+	4	327	c.305A>G	c.(304-306)tAt>tGt	p.Y102C	ATF1_ENST00000539132.1_Intron	NM_005171.4	NP_005162.1	P18846	ATF1_HUMAN	activating transcription factor 1	102					cellular protein complex assembly (GO:0043623)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of DNA replication (GO:0045740)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to cobalt ion (GO:0032025)|response to organic cyclic compound (GO:0014070)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/ATF1(347)|FUS/ATF1(4)	breast(1)|large_intestine(1)|ovary(2)	4					Pseudoephedrine(DB00852)	ACTCCCATCTATCAGACTAGC	0.403			T	"""EWSR1, FUS"""	"""malignant melanoma of soft parts , angiomatoid fibrous histiocytoma """																																	dbGAP		Dom	yes		12	12q13	466	activating transcription factor 1		"""E, M"""	0													71.0	73.0	73.0					12																	51203349		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC029619	CCDS8803.1	12q13	2014-05-13			ENSG00000123268	ENSG00000123268		"""basic leucine zipper proteins"""	783	protein-coding gene	gene with protein product		123803				8401579	Standard	NM_005171		Approved	TREB36	uc001rww.4	P18846		ENST00000262053.3:c.305A>G	12.37:g.51203349A>G	ENSP00000262053:p.Tyr102Cys		B4DRF9|P25168|Q9H4A8	Missense_Mutation	SNP	pfam_bZIP_1,pfam_Coactivator_CBP_pKID,pfam_bZIP_2,smart_bZIP,pfscan_Coactivator_CBP_pKID,pfscan_bZIP,prints_Leuzip_CREB	p.Y102C	ENST00000262053.3	37	c.305	CCDS8803.1	12	.	.	.	.	.	.	.	.	.	.	A	18.94	3.729861	0.69074	.	.	ENSG00000123268	ENST00000552510;ENST00000262053;ENST00000552487	D;T;T	0.82167	-1.58;0.25;0.15	4.48	3.32	0.38043	.	0.000000	0.85682	D	0.000000	D	0.89918	0.6854	M	0.81341	2.54	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.89801	0.3975	10	0.87932	D	0	-16.0462	10.4085	0.44278	0.921:0.0:0.079:0.0	.	102	P18846	ATF1_HUMAN	C	102	ENSP00000448592:Y102C;ENSP00000262053:Y102C;ENSP00000448921:Y102C	ENSP00000262053:Y102C	Y	+	2	0	ATF1	49489616	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	8.634000	0.91002	0.836000	0.34901	-0.263000	0.10527	TAT	ATF1	-	prints_Leuzip_CREB	ENSG00000123268		0.403	ATF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATF1	HGNC	protein_coding	OTTHUMT00000404285.1	78	0.00	0	A	NM_005171		51203349	51203349	+1	no_errors	ENST00000262053	ensembl	human	known	69_37n	missense	52	45.83	44	SNP	1.000	G
ATF4	468	genome.wustl.edu	37	22	39918079	39918082	+	Frame_Shift_Del	DEL	TTCC	TTCC	-	rs575170457		TCGA-D8-A1XA-01A-11D-A14G-09	TCGA-D8-A1XA-10A-01D-A14G-09	TTCC	TTCC					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a362780b-8917-4438-9693-ec9fa84c352a	81ee32ae-fc65-4e2c-bbac-2e22214f817b	g.chr22:39918079_39918082delTTCC	ENST00000337304.2	+	2	1410_1413	c.528_531delTTCC	c.(526-531)cattccfs	p.HS176fs	ATF4_ENST00000404241.2_Frame_Shift_Del_p.HS176fs|ATF4_ENST00000396680.1_Frame_Shift_Del_p.HS176fs	NM_001675.2	NP_001666.2	P18848	ATF4_HUMAN	activating transcription factor 4	176					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular amino acid metabolic process (GO:0006520)|cellular protein metabolic process (GO:0044267)|circadian regulation of gene expression (GO:0032922)|endoplasmic reticulum unfolded protein response (GO:0030968)|gamma-aminobutyric acid signaling pathway (GO:0007214)|gluconeogenesis (GO:0006094)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of oxidative stress-induced neuron death (GO:1903204)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of apoptotic process (GO:0043065)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress (GO:1990440)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to endoplasmic reticulum stress (GO:0034976)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite membrane (GO:0032590)|Lewy body core (GO:1990037)|neuron projection (GO:0043005)|nuclear periphery (GO:0034399)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	Melanoma(58;0.04)				Pseudoephedrine(DB00852)	CTCCAGATCATTCCTTTAGTTTAG	0.5																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			D90209	CCDS13996.1	22q13.1	2013-05-23	2013-05-23		ENSG00000128272	ENSG00000128272		"""basic leucine zipper proteins"""	786	protein-coding gene	gene with protein product	"""tax-responsive enhancer element B67"""	604064	"""activating transcription factor 4 (tax-responsive enhancer element B67)"""	TXREB		1847461, 1534408	Standard	NM_182810		Approved	TAXREB67, CREB-2	uc003axz.3	P18848	OTTHUMG00000151099	ENST00000337304.2:c.528_531delTTCC	22.37:g.39918079_39918082delTTCC	ENSP00000336790:p.His176fs		Q9UH31	Frame_Shift_Del	DEL	pfam_bZIP_1,pfam_bZIP_2,smart_bZIP,pfscan_bZIP	p.S177fs	ENST00000337304.2	37	c.528_531	CCDS13996.1	22																																																																																			ATF4	-	NULL	ENSG00000128272		0.500	ATF4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ATF4	HGNC	protein_coding	OTTHUMT00000321305.1	87	0.00	0	TTCC	NM_001675		39918079	39918082	+1	no_errors	ENST00000337304	ensembl	human	known	69_37n	frame_shift_del	14	54.29	19	DEL	1.000:1.000:1.000:0.954	-
ATP2A1	487	genome.wustl.edu	37	16	28898983	28898983	+	Missense_Mutation	SNP	C	C	A	rs374313207		TCGA-D8-A1XA-01A-11D-A14G-09	TCGA-D8-A1XA-10A-01D-A14G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a362780b-8917-4438-9693-ec9fa84c352a	81ee32ae-fc65-4e2c-bbac-2e22214f817b	g.chr16:28898983C>A	ENST00000357084.3	+	8	1135	c.868C>A	c.(868-870)Cgc>Agc	p.R290S	ATP2A1_ENST00000395503.4_Missense_Mutation_p.R290S|ATP2A1_ENST00000536376.1_Missense_Mutation_p.R165S	NM_173201.3	NP_775293.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	290					apoptotic mitochondrial changes (GO:0008637)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|ion transmembrane transport (GO:0034220)|maintenance of mitochondrion location (GO:0051659)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of striated muscle contraction (GO:0045988)|positive regulation of endoplasmic reticulum calcium ion concentration (GO:0032470)|positive regulation of fast-twitch skeletal muscle fiber contraction (GO:0031448)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|regulation of striated muscle contraction (GO:0006942)|relaxation of skeletal muscle (GO:0090076)|response to endoplasmic reticulum stress (GO:0034976)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|H zone (GO:0031673)|I band (GO:0031674)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						CTCCTGGTTCCGCGGGGCCAT	0.557																																						dbGAP											0													87.0	84.0	85.0					16																	28898983		2197	4300	6497	-	-	-	SO:0001583	missense	0				CCDS10643.1, CCDS42139.1, CCDS66997.1	16p12.1	2012-10-22			ENSG00000196296	ENSG00000196296	3.6.3.8	"""ATPases / P-type"""	811	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 1"", ""calcium pump 1"""	108730		ATP2A			Standard	NM_004320		Approved	SERCA1	uc002dro.1	O14983	OTTHUMG00000131760	ENST00000357084.3:c.868C>A	16.37:g.28898983C>A	ENSP00000349595:p.Arg290Ser		A8K5J9|B3KY17|O14984	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,tigrfam_ATPase_P-typ_Ca-transp,tigrfam_ATPase_P-typ_ion-transptr	p.R290S	ENST00000357084.3	37	c.868	CCDS10643.1	16	.	.	.	.	.	.	.	.	.	.	C	16.86	3.238845	0.58995	.	.	ENSG00000196296	ENST00000357084;ENST00000395503;ENST00000395498;ENST00000536376	D;D;D	0.88277	-2.36;-2.36;-2.34	5.27	4.32	0.51571	ATPase, P-type, ATPase-associated domain (1);	0.054625	0.64402	D	0.000001	D	0.85588	0.5731	N	0.20445	0.575	0.47245	D	0.999363	P;B;B	0.34615	0.459;0.293;0.249	P;B;B	0.45610	0.487;0.311;0.207	D	0.85106	0.0960	10	0.54805	T	0.06	.	12.1563	0.54079	0.3104:0.6896:0.0:0.0	.	165;290;290	B3KY17;O14983;O14983-2	.;AT2A1_HUMAN;.	S	290;290;327;165	ENSP00000349595:R290S;ENSP00000378879:R290S;ENSP00000443101:R165S	ENSP00000349595:R290S	R	+	1	0	ATP2A1	28806484	1.000000	0.71417	0.417000	0.26559	0.555000	0.35460	5.907000	0.69908	1.203000	0.43233	0.467000	0.42956	CGC	ATP2A1	-	pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_Ca-transp,tigrfam_ATPase_P-typ_ion-transptr	ENSG00000196296		0.557	ATP2A1-001	KNOWN	basic|CCDS	protein_coding	ATP2A1	HGNC	protein_coding	OTTHUMT00000254686.2	34	0.00	0	C	NM_004320		28898983	28898983	+1	no_errors	ENST00000357084	ensembl	human	known	69_37n	missense	37	33.93	19	SNP	1.000	A
C10orf53	282966	genome.wustl.edu	37	10	50916662	50916662	+	Nonstop_Mutation	SNP	G	G	T			TCGA-D8-A1XA-01A-11D-A14G-09	TCGA-D8-A1XA-10A-01D-A14G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a362780b-8917-4438-9693-ec9fa84c352a	81ee32ae-fc65-4e2c-bbac-2e22214f817b	g.chr10:50916662G>T	ENST00000374112.3	+	3	485	c.473G>T	c.(472-474)tGa>tTa	p.*158L	C10orf53_ENST00000535836.1_Nonstop_Mutation_p.*158L	NM_182554.2	NP_872360.2	Q8N6V4	CJ053_HUMAN	chromosome 10 open reading frame 53	0										endometrium(1)|lung(6)	7		all_neural(218;0.107)				cagccctactgaaatcgacag	0.468																																						dbGAP											0													81.0	84.0	83.0					10																	50916662		2203	4300	6503	-	-	-	SO:0001578	stop_lost	0			BC028127	CCDS31202.1, CCDS41521.1	10q11.23	2012-05-24			ENSG00000178645	ENSG00000178645			27421	protein-coding gene	gene with protein product						12477932	Standard	NM_182554		Approved	Em:AC069546.1	uc001jid.1	Q8N6V4	OTTHUMG00000018199	ENST00000374112.3:c.473G>T	10.37:g.50916662G>T	ENSP00000363226:p.*158Leuext*24		A6NI81|A6NLE0|B9ZVK6	Nonstop_Mutation	SNP	NULL	p.*158L	ENST00000374112.3	37	c.473	CCDS31202.1	10	.	.	.	.	.	.	.	.	.	.	G	0.009	-1.829550	0.00584	.	.	ENSG00000178645	ENST00000374112;ENST00000535836	.	.	.	1.76	-3.28	0.05033	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.2505	0.20843	0.4602:0.0:0.5398:0.0	.	.	.	.	L	158	.	.	X	+	2	2	C10orf53	50586668	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.506000	0.06359	-0.910000	0.03847	-0.436000	0.05848	TGA	C10orf53	-	NULL	ENSG00000178645		0.468	C10orf53-003	KNOWN	basic|CCDS	protein_coding	C10orf53	HGNC	protein_coding	OTTHUMT00000048006.1	85	0.00	0	G	NM_182554		50916662	50916662	+1	no_errors	ENST00000374112	ensembl	human	known	69_37n	nonstop	43	39.44	28	SNP	0.001	T
CENPC	1060	genome.wustl.edu	37	4	68374632	68374632	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XA-01A-11D-A14G-09	TCGA-D8-A1XA-10A-01D-A14G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a362780b-8917-4438-9693-ec9fa84c352a	81ee32ae-fc65-4e2c-bbac-2e22214f817b	g.chr4:68374632C>T	ENST00000273853.6	-	10	2054	c.1804G>A	c.(1804-1806)Ggt>Agt	p.G602S		NM_001812.2	NP_001803.2	Q03188	CENPC_HUMAN	centromere protein C	602					chromosome segregation (GO:0007059)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	centromeric DNA binding (GO:0019237)|DNA binding (GO:0003677)										CCAACGATACCTCCAGAACCT	0.378																																						dbGAP											0													144.0	135.0	138.0					4																	68374632		1864	4111	5975	-	-	-	SO:0001583	missense	0			M95724	CCDS47063.1	4q13.2	2013-11-05	2013-07-03	2013-07-03	ENSG00000145241	ENSG00000145241			1854	protein-coding gene	gene with protein product		117141	"""centromere protein C 1"""	CENPC1		7959789	Standard	XR_245245		Approved	CENP-C, hcp-4, MIF2	uc003hdd.1	Q03188	OTTHUMG00000160735	ENST00000273853.6:c.1804G>A	4.37:g.68374632C>T	ENSP00000273853:p.Gly602Ser		Q8IW27|Q9P0M5	Missense_Mutation	SNP	pfam_Mif2/CENP-C_cupin,pfam_Cupin_2,superfamily_RmlC_Cupin	p.G602S	ENST00000273853.6	37	c.1804	CCDS47063.1	4	.	.	.	.	.	.	.	.	.	.	C	0.895	-0.724233	0.03158	.	.	ENSG00000145241	ENST00000273853	.	.	.	4.89	2.07	0.26955	.	2.417310	0.01481	N	0.016693	T	0.22166	0.0534	L	0.43152	1.355	0.09310	N	1	P;P	0.43750	0.816;0.608	B;B	0.35550	0.205;0.205	T	0.19031	-1.0318	9	0.12766	T	0.61	0.5242	3.8984	0.09149	0.1865:0.6049:0.0:0.2086	.	602;602	Q8IW27;Q03188	.;CENPC_HUMAN	S	602	.	ENSP00000273853:G602S	G	-	1	0	CENPC1	68057227	0.000000	0.05858	0.052000	0.19188	0.021000	0.10359	-0.970000	0.03810	0.292000	0.22492	0.650000	0.86243	GGT	CENPC1	-	NULL	ENSG00000145241		0.378	CENPC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPC1	HGNC	protein_coding	OTTHUMT00000362001.2	130	0.00	0	C			68374632	68374632	-1	no_errors	ENST00000273853	ensembl	human	known	69_37n	missense	61	37.76	37	SNP	0.047	T
CRISPLD1	83690	genome.wustl.edu	37	8	75932129	75932130	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-D8-A1XA-01A-11D-A14G-09	TCGA-D8-A1XA-10A-01D-A14G-09	CA	CA					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a362780b-8917-4438-9693-ec9fa84c352a	81ee32ae-fc65-4e2c-bbac-2e22214f817b	g.chr8:75932129_75932130delCA	ENST00000262207.4	+	11	1620_1621	c.1152_1153delCA	c.(1150-1155)ttcacafs	p.T385fs	CRISPLD1_ENST00000517786.1_Frame_Shift_Del_p.T199fs|CRISPLD1_ENST00000523524.1_Frame_Shift_Del_p.T197fs	NM_031461.5	NP_113649.1	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain containing 1	385					face morphogenesis (GO:0060325)	extracellular vesicular exosome (GO:0070062)				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)			CTAATTCCTTCACAGTCTCTAA	0.327																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AL834301	CCDS6219.1, CCDS69497.1, CCDS75754.1	8q21.13	2005-09-23	2005-02-16	2005-02-16	ENSG00000121005	ENSG00000121005			18206	protein-coding gene	gene with protein product			"""LCCL domain containing cysteine-rich secretory protein 1"""	LCRISP1			Standard	NM_031461		Approved	Cocoacrisp, DKFZp762F133	uc003yan.3	Q9H336	OTTHUMG00000164529	ENST00000262207.4:c.1152_1153delCA	8.37:g.75932131_75932132delCA	ENSP00000262207:p.Thr385fs		B2RA60|B7Z929	Frame_Shift_Del	DEL	pfam_LCCL,pfam_CAP_domain,superfamily_CAP_domain,superfamily_LCCL,smart_Allrgn_V5/Tpx1,smart_LCCL,pfscan_LCCL,prints_Allrgn_V5/Tpx1	p.T385fs	ENST00000262207.4	37	c.1152_1153	CCDS6219.1	8																																																																																			CRISPLD1	-	superfamily_LCCL	ENSG00000121005		0.327	CRISPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRISPLD1	HGNC	protein_coding	OTTHUMT00000379117.1	137	0.00	0	CA	NM_031461		75932129	75932130	+1	no_errors	ENST00000262207	ensembl	human	known	69_37n	frame_shift_del	83	27.97	33	DEL	1.000:1.000	-
CYP2E1	1571	genome.wustl.edu	37	10	135340911	135340911	+	Silent	SNP	C	C	T			TCGA-D8-A1XA-01A-11D-A14G-09	TCGA-D8-A1XA-10A-01D-A14G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a362780b-8917-4438-9693-ec9fa84c352a	81ee32ae-fc65-4e2c-bbac-2e22214f817b	g.chr10:135340911C>T	ENST00000463117.2	+	3	284	c.12C>T	c.(10-12)ctC>ctT	p.L4L	SPRN_ENST00000541506.1_Intron|CYP2E1_ENST00000252945.3_Silent_p.L4L			P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E, polypeptide 1	4					drug metabolic process (GO:0017144)|heterocycle metabolic process (GO:0046483)|monoterpenoid metabolic process (GO:0016098)|oxidation-reduction process (GO:0055114)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to organonitrogen compound (GO:0010243)|response to ozone (GO:0010193)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|triglyceride metabolic process (GO:0006641)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|mitochondrion (GO:0005739)	enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)			NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Aldesleukin(DB00041)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminophylline(DB01223)|Amitriptyline(DB00321)|Antipyrine(DB01435)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Bromazepam(DB01558)|Brompheniramine(DB00835)|Bupropion(DB01156)|Caffeine(DB00201)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Citalopram(DB00215)|Clevidipine(DB04920)|Clofibrate(DB00636)|Clomifene(DB00882)|Clonazepam(DB01068)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Dacarbazine(DB00851)|Dalfampridine(DB06637)|Dapsone(DB00250)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Disulfiram(DB00822)|Econazole(DB01127)|Enflurane(DB00228)|Enfuvirtide(DB00109)|Estrone(DB00655)|Ethanol(DB00898)|Ethanolamine Oleate(DB06689)|Ethosuximide(DB00593)|Etoposide(DB00773)|Etoricoxib(DB01628)|Felbamate(DB00949)|Fingolimod(DB08868)|Flunitrazepam(DB01544)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluvoxamine(DB00176)|Folic Acid(DB00158)|Fomepizole(DB01213)|Glucosamine(DB01296)|Halothane(DB01159)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imipramine(DB00458)|Isoflurane(DB00753)|Isoniazid(DB00951)|Isosorbide Dinitrate(DB00883)|Itraconazole(DB01167)|Menadione(DB00170)|Meprobamate(DB00371)|Methazolamide(DB00703)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxyflurane(DB01028)|Metyrapone(DB01011)|Mexiletine(DB00379)|Miconazole(DB01110)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nitrazepam(DB01595)|Nortriptyline(DB00540)|Ondansetron(DB00904)|Orphenadrine(DB01173)|Oxaliplatin(DB00526)|Paramethadione(DB00617)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Pilocarpine(DB01085)|Pimozide(DB01100)|Proguanil(DB01131)|Propofol(DB00818)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rufinamide(DB06201)|S-Adenosylmethionine(DB00118)|Selegiline(DB01037)|Sevoflurane(DB01236)|Sildenafil(DB00203)|Streptozocin(DB00428)|Sulfadiazine(DB00359)|Sulfanilamide(DB00259)|Tamoxifen(DB00675)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiopental(DB00599)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Trimethadione(DB00347)|Ursodeoxycholic acid(DB01586)|Zafirlukast(DB00549)|Zopiclone(DB01198)	TGTCTGCCCTCGGAGTCACCG	0.627									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of																													dbGAP											0													60.0	63.0	62.0					10																	135340911		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	incl.: Familial Head and Neck Cancer	J02843	CCDS7686.1	10q26.3	2013-05-03	2003-01-14	2002-09-13	ENSG00000130649	ENSG00000130649		"""Cytochrome P450s"""	2631	protein-coding gene	gene with protein product		124040	"""cytochrome P450, subfamily IIE (ethanol-inducible), polypeptide 1"""	CYP2E			Standard	NM_000773		Approved		uc001lnj.1	P05181	OTTHUMG00000019322	ENST00000463117.2:c.12C>T	10.37:g.135340911C>T			Q5VZD5|Q6NWT9|Q9UK47	Silent	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2E-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.L4	ENST00000463117.2	37	c.12	CCDS7686.1	10																																																																																			CYP2E1	-	NULL	ENSG00000130649		0.627	CYP2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2E1	HGNC	protein_coding	OTTHUMT00000051161.2	18	0.00	0	C	NM_000773		135340911	135340911	+1	no_errors	ENST00000252945	ensembl	human	known	69_37n	silent	4	66.67	8	SNP	0.007	T
DLGAP2	9228	genome.wustl.edu	37	8	1645363	1645363	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D8-A1XA-01A-11D-A14G-09	TCGA-D8-A1XA-10A-01D-A14G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a362780b-8917-4438-9693-ec9fa84c352a	81ee32ae-fc65-4e2c-bbac-2e22214f817b	g.chr8:1645363G>A	ENST00000421627.2	+	11	2741	c.2607G>A	c.(2605-2607)tgG>tgA	p.W869*		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	948					neuron-neuron synaptic transmission (GO:0007270)	cell junction (GO:0030054)|neurofilament (GO:0005883)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		CCGGCTACTGGGACATGCTGC	0.632																																						dbGAP											0													35.0	40.0	38.0					8																	1645363		2005	4158	6163	-	-	-	SO:0001587	stop_gained	0			AB000275	CCDS47760.1, CCDS75689.1	8p23	2007-12-06	2001-11-28		ENSG00000198010	ENSG00000198010			2906	protein-coding gene	gene with protein product		605438	"""discs, large (Drosophila) homolog-associated protein 2"""			9286858, 10854099	Standard	NM_004745		Approved	DAP-2	uc003wpl.4	Q9P1A6	OTTHUMG00000163599	ENST00000421627.2:c.2607G>A	8.37:g.1645363G>A	ENSP00000400258:p.Trp869*		A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Nonsense_Mutation	SNP	pfam_GKAP	p.W869*	ENST00000421627.2	37	c.2607	CCDS47760.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	40|40	8.112755|8.112755	0.98659|0.98659	.|.	.|.	ENSG00000198010|ENSG00000198010	ENST00000520901|ENST00000356067;ENST00000421627	.|.	.|.	.|.	4.91|4.91	4.91|4.91	0.64330|0.64330	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.45716|.	0.1356|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.41360|.	-0.9513|.	3|.	.|0.02654	.|T	.|1	-9.0324|-9.0324	18.0887|18.0887	0.89466|0.89466	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	E|X	872|900;869	.|.	.|ENSP00000348366:W900X	G|W	+|+	2|3	0|0	DLGAP2|DLGAP2	1632770|1632770	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	9.330000|9.330000	0.96422|0.96422	2.270000|2.270000	0.75569|0.75569	0.561000|0.561000	0.74099|0.74099	GGG|TGG	DLGAP2	-	pfam_GKAP	ENSG00000198010		0.632	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLGAP2	HGNC	protein_coding	OTTHUMT00000374478.1	10	0.00	0	G	NM_004745		1645363	1645363	+1	no_errors	ENST00000421627	ensembl	human	known	69_37n	nonsense	6	50.00	6	SNP	1.000	A
HNRNPKP3	399881	genome.wustl.edu	37	11	43283606	43283606	+	RNA	DEL	A	A	-	rs377012965		TCGA-D8-A1XA-01A-11D-A14G-09	TCGA-D8-A1XA-10A-01D-A14G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a362780b-8917-4438-9693-ec9fa84c352a	81ee32ae-fc65-4e2c-bbac-2e22214f817b	g.chr11:43283606delA	ENST00000511537.1	-	0	1329					NR_033868.1				heterogeneous nuclear ribonucleoprotein K pseudogene 3																		AAGCAAATGTAAAAAAAAAAA	0.388																																						dbGAP											0																																										-	-	-			0					11p12	2011-07-05				ENSG00000251557			42376	pseudogene	pseudogene							Standard	NR_033868		Approved		uc001mxe.2				11.37:g.43283606delA				RNA	DEL	-	NULL	ENST00000511537.1	37	NULL		11																																																																																			HNRNPKP3	-	-	ENSG00000251557		0.388	HNRNPKP3-003	KNOWN	basic	processed_transcript	HNRNPKP3	HGNC	pseudogene	OTTHUMT00000390385.1	15	0.00	0	A	NR_033868		43283606	43283606	-1	no_errors	ENST00000511537	ensembl	human	known	69_37n	rna	11	15.38	2	DEL	0.986	-
IFITM2	10581	genome.wustl.edu	37	11	308323	308323	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XA-01A-11D-A14G-09	TCGA-D8-A1XA-10A-01D-A14G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a362780b-8917-4438-9693-ec9fa84c352a	81ee32ae-fc65-4e2c-bbac-2e22214f817b	g.chr11:308323T>C	ENST00000399817.4	+	1	161	c.131T>C	c.(130-132)gTg>gCg	p.V44A	RP11-326C3.7_ENST00000526612.1_RNA|IFITM2_ENST00000533141.1_Missense_Mutation_p.V24A|IFITM2_ENST00000602569.1_Missense_Mutation_p.V24A	NM_006435.2	NP_006426.2	Q01629	IFM2_HUMAN	interferon induced transmembrane protein 2	44					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|immune response (GO:0006955)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral genome replication (GO:0045071)|response to interferon-alpha (GO:0035455)|response to interferon-beta (GO:0035456)|response to interferon-gamma (GO:0034341)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;5.73e-28)|Epithelial(43;3.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.14e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0328)|LUSC - Lung squamous cell carcinoma(625;0.122)		ATGTCCACCGTGATCCACATC	0.602																																						dbGAP											0													63.0	87.0	79.0					11																	308323		1960	4148	6108	-	-	-	SO:0001583	missense	0			X57351	CCDS41583.1	11p15.5	2012-03-13	2012-03-13		ENSG00000185201	ENSG00000185201			5413	protein-coding gene	gene with protein product		605578	"""interferon induced transmembrane protein 2 (1-8D)"""			1906403	Standard	NM_006435		Approved	1-8D	uc001lox.4	Q01629		ENST00000399817.4:c.131T>C	11.37:g.308323T>C	ENSP00000382714:p.Val44Ala		Q6FH82|Q96DA8	Missense_Mutation	SNP	pfam_Interferon-induced_TM_protein	p.V44A	ENST00000399817.4	37	c.131	CCDS41583.1	11	.	.	.	.	.	.	.	.	.	.	T	19.18	3.778352	0.70107	.	.	ENSG00000185201	ENST00000533141;ENST00000399817;ENST00000327366	D;D	0.86366	-2.11;-2.11	2.59	1.42	0.22433	.	0.397342	0.18709	U	0.133354	D	0.89220	0.6653	M	0.77406	2.37	0.28901	N	0.893263	D	0.55800	0.973	P	0.57244	0.816	T	0.82165	-0.0592	10	0.62326	D	0.03	-21.282	3.9408	0.09326	0.0:0.1999:0.0:0.8001	.	44	Q01629	IFM2_HUMAN	A	24;44;44	ENSP00000434443:V24A;ENSP00000382714:V44A	ENSP00000327996:V44A	V	+	2	0	IFITM2	298323	0.999000	0.42202	0.761000	0.31378	0.256000	0.26092	1.667000	0.37471	0.253000	0.21552	0.254000	0.18369	GTG	IFITM2	-	pfam_Interferon-induced_TM_protein	ENSG00000185201		0.602	IFITM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IFITM2	HGNC	protein_coding	OTTHUMT00000383591.1	83	0.00	0	T	NM_006435		308323	308323	+1	no_errors	ENST00000399817	ensembl	human	known	69_37n	missense	29	43.14	22	SNP	1.000	C
IFRD2	7866	genome.wustl.edu	37	3	50327172	50327172	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A1XA-01A-11D-A14G-09	TCGA-D8-A1XA-10A-01D-A14G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a362780b-8917-4438-9693-ec9fa84c352a	81ee32ae-fc65-4e2c-bbac-2e22214f817b	g.chr3:50327172C>A	ENST00000429673.2	-	6	759	c.760G>T	c.(760-762)Ggc>Tgc	p.G254C	IFRD2_ENST00000436390.1_Missense_Mutation_p.G190C|IFRD2_ENST00000484043.1_5'Flank|IFRD2_ENST00000336089.4_Missense_Mutation_p.G356C|IFRD2_ENST00000417626.2_Missense_Mutation_p.G190C			Q12894	IFRD2_HUMAN	interferon-related developmental regulator 2	254						nucleus (GO:0005634)				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		ACGTAGCAGCCCAGGCCAAGG	0.617																																						dbGAP											0													36.0	45.0	42.0					3																	50327172		2202	4297	6499	-	-	-	SO:0001583	missense	0			U09585		3p21.3	2008-07-18			ENSG00000214706	ENSG00000214706			5457	protein-coding gene	gene with protein product	"""interferon-related protein"""	602725				9050919	Standard	NM_006764		Approved	SKMc15, SM15, IFNRP	uc011bdp.2	Q12894	OTTHUMG00000156935	ENST00000429673.2:c.760G>T	3.37:g.50327172C>A	ENSP00000398971:p.Gly254Cys		Q9BVB4|Q9UJ88	Missense_Mutation	SNP	pfam_Interferon-rel_develop_reg_N,pfam_Interferon-rel_develop_reg_C,superfamily_ARM-type_fold	p.G356C	ENST00000429673.2	37	c.1066	CCDS46831.1	3	.	.	.	.	.	.	.	.	.	.	C	2.043	-0.419557	0.04734	.	.	ENSG00000214706	ENST00000417626;ENST00000436390;ENST00000336089;ENST00000429673	T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07	5.72	1.54	0.23209	Interferon-related developmental regulator, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.091151	0.85682	D	0.000000	T	0.23410	0.0566	N	0.00493	-1.44	0.41835	D	0.990092	B;B	0.14438	0.01;0.01	B;B	0.18871	0.023;0.023	T	0.03221	-1.1059	10	0.38643	T	0.18	-22.5803	4.4933	0.11824	0.4261:0.4001:0.0:0.1738	.	254;356	Q12894;Q9UJ88	IFRD2_HUMAN;.	C	190;190;356;254	ENSP00000402849:G190C;ENSP00000392316:G190C;ENSP00000336936:G356C;ENSP00000398971:G254C	ENSP00000336936:G356C	G	-	1	0	IFRD2	50302176	1.000000	0.71417	1.000000	0.80357	0.053000	0.15095	1.002000	0.29796	0.764000	0.33197	-0.140000	0.14226	GGC	IFRD2	-	pfam_Interferon-rel_develop_reg_N,superfamily_ARM-type_fold	ENSG00000214706		0.617	IFRD2-202	KNOWN	basic|CCDS	protein_coding	IFRD2	HGNC	protein_coding		33	0.00	0	C	NM_006764		50327172	50327172	-1	no_errors	ENST00000336089	ensembl	human	known	69_37n	missense	17	51.35	19	SNP	1.000	A
INTS1	26173	genome.wustl.edu	37	7	1511259	1511260	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-D8-A1XA-01A-11D-A14G-09	TCGA-D8-A1XA-10A-01D-A14G-09	CT	CT					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a362780b-8917-4438-9693-ec9fa84c352a	81ee32ae-fc65-4e2c-bbac-2e22214f817b	g.chr7:1511259_1511260delCT	ENST00000404767.3	-	45	6287_6288	c.6202_6203delAG	c.(6202-6204)agtfs	p.S2068fs	INTS1_ENST00000389470.4_Frame_Shift_Del_p.S2272fs	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	2068					inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		GTCTATGTCACTCAGAACCTCC	0.634																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.6202_6203delAG	7.37:g.1511259_1511260delCT	ENSP00000385722:p.Ser2068fs		A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Frame_Shift_Del	DEL	pfam_DUF3677,superfamily_ARM-type_fold	p.S2272fs	ENST00000404767.3	37	c.6815_6814	CCDS47526.1	7																																																																																			INTS1	-	superfamily_ARM-type_fold	ENSG00000164880		0.634	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS1	HGNC	protein_coding	OTTHUMT00000323683.1	43	0.00	0	CT			1511259	1511260	-1	no_errors	ENST00000389470	ensembl	human	known	69_37n	frame_shift_del	17	10.53	2	DEL	0.982:0.994	-
KIAA2022	340533	genome.wustl.edu	37	X	73960664	73960664	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XA-01A-11D-A14G-09	TCGA-D8-A1XA-10A-01D-A14G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a362780b-8917-4438-9693-ec9fa84c352a	81ee32ae-fc65-4e2c-bbac-2e22214f817b	g.chrX:73960664C>T	ENST00000055682.6	-	3	4339	c.3728G>A	c.(3727-3729)cGt>cAt	p.R1243H		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	1243					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)	p.R1243H(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						GCTTCCCCCACGGCCAATGCC	0.493																																						dbGAP											1	Substitution - Missense(1)	kidney(1)											113.0	76.0	88.0					X																	73960664		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"""XLMR-related protein, neurite extension"""	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.3728G>A	X.37:g.73960664C>T	ENSP00000055682:p.Arg1243His		A7YY87|Q5JUX9|Q8IVE9	Missense_Mutation	SNP	NULL	p.R1243H	ENST00000055682.6	37	c.3728	CCDS35337.1	X	.	.	.	.	.	.	.	.	.	.	C	5.058	0.196384	0.09599	.	.	ENSG00000050030	ENST00000373468;ENST00000055682	T;T	0.33216	1.42;1.42	4.72	2.93	0.34026	.	0.499042	0.23369	N	0.048922	T	0.17109	0.0411	N	0.14661	0.345	0.24767	N	0.99289	B	0.13145	0.007	B	0.12156	0.007	T	0.17837	-1.0356	10	0.31617	T	0.26	-0.2586	9.8046	0.40786	0.0:0.8267:0.0:0.1733	.	1243	Q5QGS0	K2022_HUMAN	H	1243	ENSP00000362567:R1243H;ENSP00000055682:R1243H	ENSP00000055682:R1243H	R	-	2	0	KIAA2022	73877389	0.037000	0.19845	0.397000	0.26308	0.590000	0.36582	1.306000	0.33505	0.422000	0.26005	0.600000	0.82982	CGT	KIAA2022	-	NULL	ENSG00000050030		0.493	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA2022	HGNC	protein_coding	OTTHUMT00000057270.2	99	0.00	0	C	NM_001008537		73960664	73960664	-1	no_errors	ENST00000055682	ensembl	human	known	69_37n	missense	17	67.92	36	SNP	0.806	T
MAP3K1	4214	genome.wustl.edu	37	5	56183240	56183241	+	Frame_Shift_Ins	INS	-	-	T			TCGA-D8-A1XA-01A-11D-A14G-09	TCGA-D8-A1XA-10A-01D-A14G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a362780b-8917-4438-9693-ec9fa84c352a	81ee32ae-fc65-4e2c-bbac-2e22214f817b	g.chr5:56183240_56183241insT	ENST00000399503.3	+	18	4150_4151	c.4150_4151insT	c.(4150-4152)ctafs	p.L1384fs		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	1384	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		TGGTCAGAGACTAAGAATTGCA	0.421																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6848	protein-coding gene	gene with protein product		600982	"""mitogen-activated protein kinase kinase kinase 1"""	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.4151dupT	5.37:g.56183241_56183241dupT	ENSP00000382423:p.Leu1384fs			Frame_Shift_Ins	INS	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_cat_dom	p.R1385fs	ENST00000399503.3	37	c.4150_4151	CCDS43318.1	5																																																																																			MAP3K1	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000095015		0.421	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MAP3K1	HGNC	protein_coding	OTTHUMT00000132309.2	125	0.00	0	-	XM_042066		56183240	56183241	+1	no_errors	ENST00000399503	ensembl	human	novel	69_37n	frame_shift_ins	18	70.00	42	INS	1.000:1.000	T
MAP4K3	8491	genome.wustl.edu	37	2	39519955	39519955	+	Silent	SNP	T	T	C			TCGA-D8-A1XA-01A-11D-A14G-09	TCGA-D8-A1XA-10A-01D-A14G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a362780b-8917-4438-9693-ec9fa84c352a	81ee32ae-fc65-4e2c-bbac-2e22214f817b	g.chr2:39519955T>C	ENST00000263881.3	-	18	1554	c.1230A>G	c.(1228-1230)gcA>gcG	p.A410A	MAP4K3_ENST00000536018.1_5'UTR|MAP4K3_ENST00000474502.1_5'UTR|MAP4K3_ENST00000437545.1_Silent_p.A326A|MAP4K3_ENST00000341681.5_Silent_p.A389A	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	410					intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|protein phosphorylation (GO:0006468)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)		ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				CTTCTAAATGTGCGACGTGTC	0.318																																						dbGAP											0													147.0	153.0	151.0					2																	39519955		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF000145	CCDS1803.1, CCDS58707.1	2p22.3	2011-06-09			ENSG00000011566	ENSG00000011566		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6865	protein-coding gene	gene with protein product		604921		RAB8IPL1		9275185	Standard	NM_003618		Approved	GLK, MAPKKKK3	uc002rro.4	Q8IVH8	OTTHUMG00000102127	ENST00000263881.3:c.1230A>G	2.37:g.39519955T>C			Q6IQ39|Q8IVH7|Q9UDM5|Q9Y6R5	Silent	SNP	pfam_Citron,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom	p.A410	ENST00000263881.3	37	c.1230	CCDS1803.1	2																																																																																			MAP4K3	-	superfamily_Kinase-like_dom	ENSG00000011566		0.318	MAP4K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP4K3	HGNC	protein_coding	OTTHUMT00000219966.2	114	0.00	0	T	NM_003618		39519955	39519955	-1	no_errors	ENST00000263881	ensembl	human	known	69_37n	silent	16	73.33	44	SNP	1.000	C
MATN4	8785	genome.wustl.edu	37	20	43927067	43927067	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XA-01A-11D-A14G-09	TCGA-D8-A1XA-10A-01D-A14G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a362780b-8917-4438-9693-ec9fa84c352a	81ee32ae-fc65-4e2c-bbac-2e22214f817b	g.chr20:43927067G>A	ENST00000372754.1	-	7	1300	c.1292C>T	c.(1291-1293)tCg>tTg	p.S431L	MATN4_ENST00000353917.5_Missense_Mutation_p.S308L|MATN4_ENST00000537548.1_Missense_Mutation_p.S390L|MATN4_ENST00000372756.1_Missense_Mutation_p.S390L|MATN4_ENST00000342716.4_Missense_Mutation_p.S390L|MATN4_ENST00000360607.6_Missense_Mutation_p.S349L|MATN4_ENST00000372751.4_Missense_Mutation_p.S241L			O95460	MATN4_HUMAN	matrilin 4	431	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|response to axon injury (GO:0048678)	extracellular region (GO:0005576)		p.S390L(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				CACGCGGCTCGAGAACTGCAC	0.637																																						dbGAP											1	Substitution - Missense(1)	urinary_tract(1)											54.0	47.0	49.0					20																	43927067		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ007581	CCDS13348.1, CCDS46607.1	20q13.1-q13.2	2008-07-07			ENSG00000124159	ENSG00000124159			6910	protein-coding gene	gene with protein product		603897				9827539, 9027493	Standard	NM_003833		Approved		uc002xnn.2	O95460	OTTHUMG00000033043	ENST00000372754.1:c.1292C>T	20.37:g.43927067G>A	ENSP00000361840:p.Ser431Leu		A6NH94|A6NKN5|Q5QPU2|Q5QPU3|Q5QPU4|Q8N2M5|Q8N2M7|Q9H1F8|Q9H1F9	Missense_Mutation	SNP	pfam_VWF_A,pfam_EGF-like_Ca-bd,pfam_Matrilin_coiled-coil_trimer,smart_VWF_A,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_VWF_A	p.S431L	ENST00000372754.1	37	c.1292		20	.	.	.	.	.	.	.	.	.	.	G	34	5.384342	0.95967	.	.	ENSG00000124159	ENST00000372753;ENST00000372754;ENST00000372756;ENST00000353917;ENST00000360607;ENST00000342716;ENST00000537548;ENST00000255132;ENST00000372751	D;D;D;D;D;D;D;D	0.82619	-1.63;-1.63;-1.63;-1.63;-1.63;-1.63;-1.63;-1.63	5.45	5.45	0.79879	.	0.000000	0.42172	D	0.000752	D	0.95230	0.8453	H	0.99026	4.405	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	D	0.97007	0.9733	10	0.66056	D	0.02	.	18.3404	0.90303	0.0:0.0:1.0:0.0	.	308;349;390	A6NNA4;O95460-4;O95460-2	.;.;.	L	241;431;390;308;349;390;390;431;241	ENSP00000361839:S241L;ENSP00000361840:S431L;ENSP00000361842:S390L;ENSP00000243983:S308L;ENSP00000353819:S349L;ENSP00000343164:S390L;ENSP00000440328:S390L;ENSP00000361837:S241L	ENSP00000255132:S431L	S	-	2	0	MATN4	43360481	1.000000	0.71417	0.989000	0.46669	0.989000	0.77384	9.797000	0.99108	2.562000	0.86427	0.650000	0.86243	TCG	MATN4	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000124159		0.637	MATN4-002	KNOWN	non_canonical_conserved|non_canonical_U12|not_organism_supported|basic|appris_candidate_longest	protein_coding	MATN4	HGNC	protein_coding	OTTHUMT00000080335.1	8	0.00	0	G			43927067	43927067	-1	no_errors	ENST00000372754	ensembl	human	known	69_37n	missense	12	25.00	4	SNP	1.000	A
OR51I1	390063	genome.wustl.edu	37	11	5462323	5462323	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XA-01A-11D-A14G-09	TCGA-D8-A1XA-10A-01D-A14G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a362780b-8917-4438-9693-ec9fa84c352a	81ee32ae-fc65-4e2c-bbac-2e22214f817b	g.chr11:5462323T>C	ENST00000380211.1	-	1	421	c.422A>G	c.(421-423)aAc>aGc	p.N141S	HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron	NM_001005288.2	NP_001005288.1	Q9H343	O51I1_HUMAN	olfactory receptor, family 51, subfamily I, member 1	141					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAATATACGGTTGTGAGTGAG	0.478																																						dbGAP											0													140.0	108.0	119.0					11																	5462323		2201	4297	6498	-	-	-	SO:0001583	missense	0			BK004429	CCDS31382.1	11p15.4	2012-08-09			ENSG00000167359	ENSG00000167359		"""GPCR / Class A : Olfactory receptors"""	15200	protein-coding gene	gene with protein product							Standard	NM_001005288		Approved		uc010qze.2	Q9H343	OTTHUMG00000066908	ENST00000380211.1:c.422A>G	11.37:g.5462323T>C	ENSP00000369559:p.Asn141Ser		B9EKW2|Q6IF33	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.N141S	ENST00000380211.1	37	c.422	CCDS31382.1	11	.	.	.	.	.	.	.	.	.	.	T	0.004	-2.327249	0.00229	.	.	ENSG00000167359	ENST00000317283;ENST00000321307;ENST00000380211	T	0.36340	1.26	5.74	-3.52	0.04682	GPCR, rhodopsin-like superfamily (1);	0.517985	0.18932	N	0.127182	T	0.05686	0.0149	N	0.00471	-1.455	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.36890	-0.9729	10	0.02654	T	1	.	1.8405	0.03149	0.1147:0.2018:0.2983:0.3852	.	141	Q9H343	O51I1_HUMAN	S	126;138;141	ENSP00000369559:N141S	ENSP00000348350:N126S	N	-	2	0	OR51I1	5418899	0.000000	0.05858	0.153000	0.22517	0.097000	0.18754	-0.065000	0.11617	-0.052000	0.13311	-0.403000	0.06358	AAC	OR51I1	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt	ENSG00000167359		0.478	OR51I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51I1	HGNC	protein_coding	OTTHUMT00000143399.1	55	0.00	0	T	NM_001005288		5462323	5462323	-1	no_errors	ENST00000380211	ensembl	human	known	69_37n	missense	17	59.52	25	SNP	0.000	C
OR5D13	390142	genome.wustl.edu	37	11	55541596	55541596	+	Missense_Mutation	SNP	T	T	G			TCGA-D8-A1XA-01A-11D-A14G-09	TCGA-D8-A1XA-10A-01D-A14G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a362780b-8917-4438-9693-ec9fa84c352a	81ee32ae-fc65-4e2c-bbac-2e22214f817b	g.chr11:55541596T>G	ENST00000361760.1	+	1	683	c.683T>G	c.(682-684)aTg>aGg	p.M228R		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	228						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				ACTACCATTATGAAGATGCGA	0.418																																						dbGAP											0													131.0	121.0	124.0					11																	55541596		2200	4296	6496	-	-	-	SO:0001583	missense	0			BK004394	CCDS31507.1	11q11	2012-08-09			ENSG00000198877	ENSG00000198877		"""GPCR / Class A : Olfactory receptors"""	15280	protein-coding gene	gene with protein product							Standard	NM_001001967		Approved		uc010ril.2	Q8NGL4	OTTHUMG00000166807	ENST00000361760.1:c.683T>G	11.37:g.55541596T>G	ENSP00000354800:p.Met228Arg		Q6IF68|Q6IFC9	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.M228R	ENST00000361760.1	37	c.683	CCDS31507.1	11	.	.	.	.	.	.	.	.	.	.	T	8.616	0.890361	0.17613	.	.	ENSG00000198877	ENST00000361760	T	0.00107	8.72	3.82	3.82	0.43975	GPCR, rhodopsin-like superfamily (1);	0.446120	0.16323	U	0.219456	T	0.00178	0.0005	L	0.53561	1.675	0.09310	N	1	B	0.02656	0.0	B	0.11329	0.006	T	0.32322	-0.9911	10	0.72032	D	0.01	-4.5301	10.8752	0.46906	0.0:0.0:0.0:1.0	.	228	Q8NGL4	OR5DD_HUMAN	R	228	ENSP00000354800:M228R	ENSP00000354800:M228R	M	+	2	0	OR5D13	55298172	0.001000	0.12720	0.004000	0.12327	0.002000	0.02628	1.078000	0.30754	1.535000	0.49220	0.398000	0.26397	ATG	OR5D13	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000198877		0.418	OR5D13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5D13	HGNC	protein_coding	OTTHUMT00000391511.1	97	0.00	0	T	NM_001001967		55541596	55541596	+1	no_errors	ENST00000361760	ensembl	human	known	69_37n	missense	40	44.44	32	SNP	0.001	G
PRDM10	56980	genome.wustl.edu	37	11	129827675	129827675	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XA-01A-11D-A14G-09	TCGA-D8-A1XA-10A-01D-A14G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a362780b-8917-4438-9693-ec9fa84c352a	81ee32ae-fc65-4e2c-bbac-2e22214f817b	g.chr11:129827675G>A	ENST00000360871.3	-	3	431	c.200C>T	c.(199-201)aCg>aTg	p.T67M	PRDM10_ENST00000358825.5_Missense_Mutation_p.T67M|PRDM10_ENST00000528746.1_Missense_Mutation_p.T67M	NM_199437.1	NP_955469.1	Q9NQV6	PRD10_HUMAN	PR domain containing 10	67					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		GTACACCAGCGTGTGCTCTGG	0.488																																						dbGAP											0													171.0	150.0	157.0					11																	129827675		2201	4297	6498	-	-	-	SO:0001583	missense	0			AF275817	CCDS8484.1, CCDS8485.1, CCDS44771.1, CCDS44772.1	11q24.3	2013-01-08			ENSG00000170325	ENSG00000170325		"""Zinc fingers, C2H2-type"""	13995	protein-coding gene	gene with protein product	"""PRDM zinc finger transcription factor"", ""PR-domain family member 7"", ""tristanin"""					12175877	Standard	NM_020228		Approved	KIAA1231, PFM7, MGC131802	uc001qfm.3	Q9NQV6	OTTHUMG00000165762	ENST00000360871.3:c.200C>T	11.37:g.129827675G>A	ENSP00000354118:p.Thr67Met		B7ZL71|G3XAE5|J3KP23|Q17R90|Q2KHR4|Q863Z2|Q9NXI4|Q9ULI9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T67M	ENST00000360871.3	37	c.200	CCDS8484.1	11	.	.	.	.	.	.	.	.	.	.	G	24.4	4.528170	0.85706	.	.	ENSG00000170325	ENST00000358825;ENST00000360871;ENST00000528746;ENST00000527581;ENST00000531431	T;T;T;T;T	0.58060	0.88;0.88;2.3;0.47;0.36	5.75	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.62804	0.2458	L	0.32530	0.975	0.80722	D	1	D;P;D	0.89917	0.975;0.77;1.0	B;B;D	0.83275	0.356;0.124;0.996	T	0.66913	-0.5803	10	0.87932	D	0	-17.3711	14.7624	0.69614	0.0693:0.0:0.9307:0.0	.	67;67;67	Q9NQV6-4;G3XAE5;Q9NQV6	.;.;PRD10_HUMAN	M	67	ENSP00000351686:T67M;ENSP00000354118:T67M;ENSP00000431262:T67M;ENSP00000432093:T67M;ENSP00000436681:T67M	ENSP00000351686:T67M	T	-	2	0	PRDM10	129332885	1.000000	0.71417	0.870000	0.34147	0.966000	0.64601	9.476000	0.97823	1.447000	0.47661	0.650000	0.86243	ACG	PRDM10	-	NULL	ENSG00000170325		0.488	PRDM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDM10	HGNC	protein_coding	OTTHUMT00000386076.1	48	0.00	0	G	NM_199437		129827675	129827675	-1	no_errors	ENST00000358825	ensembl	human	known	69_37n	missense	18	45.45	15	SNP	0.999	A
RPL5	6125	genome.wustl.edu	37	1	93299194	93299197	+	Frame_Shift_Del	DEL	ACAA	ACAA	-			TCGA-D8-A1XA-01A-11D-A14G-09	TCGA-D8-A1XA-10A-01D-A14G-09	ACAA	ACAA					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a362780b-8917-4438-9693-ec9fa84c352a	81ee32ae-fc65-4e2c-bbac-2e22214f817b	g.chr1:93299194_93299197delACAA	ENST00000370321.3	+	3	256_259	c.166_169delACAA	c.(166-171)acaaacfs	p.TN56fs		NM_000969.3	NP_000960.2	P46777	RL5_HUMAN	ribosomal protein L5	56					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	5S rRNA binding (GO:0008097)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)		AGTTCGTGTGACAAACAGAGATAT	0.373																																						dbGAP											0			GRCh37	CD086184	RPL5	D																																				-	-	-	SO:0001589	frameshift_variant	0			U14966	CCDS741.1	1p22.1	2014-06-13			ENSG00000122406	ENSG00000122406		"""L ribosomal proteins"""	10360	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 135"""	603634				7937132, 7772601	Standard	NM_000969		Approved	L5, PPP1R135	uc001doz.3	P46777	OTTHUMG00000010899	ENST00000370321.3:c.166_169delACAA	1.37:g.93299194_93299197delACAA	ENSP00000359345:p.Thr56fs		Q32LZ3|Q53HH6|Q9H3F4	Frame_Shift_Del	DEL	pfam_Ribosomal_L18/L5,prints_Rbsml_L5_euk/L18_arc	p.N57fs	ENST00000370321.3	37	c.166_169	CCDS741.1	1																																																																																			RPL5	-	pfam_Ribosomal_L18/L5,prints_Rbsml_L5_euk/L18_arc	ENSG00000122406		0.373	RPL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL5	HGNC	protein_coding	OTTHUMT00000030058.2	91	0.00	0	ACAA	NM_000969		93299194	93299197	+1	no_errors	ENST00000370321	ensembl	human	known	69_37n	frame_shift_del	49	26.87	18	DEL	1.000:1.000:0.997:1.000	-
SHROOM2	357	genome.wustl.edu	37	X	9841726	9841726	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XA-01A-11D-A14G-09	TCGA-D8-A1XA-10A-01D-A14G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a362780b-8917-4438-9693-ec9fa84c352a	81ee32ae-fc65-4e2c-bbac-2e22214f817b	g.chrX:9841726A>G	ENST00000380913.3	+	2	290	c.200A>G	c.(199-201)aAg>aGg	p.K67R	Y_RNA_ENST00000384117.1_RNA	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	67	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apical protein localization (GO:0045176)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell migration (GO:0016477)|cell-cell junction maintenance (GO:0045217)|cellular pigment accumulation (GO:0043482)|ear development (GO:0043583)|establishment of melanosome localization (GO:0032401)|eye pigment granule organization (GO:0008057)|lens morphogenesis in camera-type eye (GO:0002089)|melanosome organization (GO:0032438)|negative regulation of actin filament depolymerization (GO:0030835)|sodium ion transmembrane transport (GO:0035725)	apical plasma membrane (GO:0016324)|cell cortex (GO:0005938)|cell-cell adherens junction (GO:0005913)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|beta-catenin binding (GO:0008013)|ligand-gated sodium channel activity (GO:0015280)			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				GCGGTCGACAAGTTACTGGCT	0.532											OREG0019659	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													100.0	88.0	92.0					X																	9841726		2203	4300	6503	-	-	-	SO:0001583	missense	0			X83543	CCDS14135.1	Xp22.3	2008-02-05	2006-07-20	2006-07-20	ENSG00000146950	ENSG00000146950			630	protein-coding gene	gene with protein product		300103	"""apical protein, Xenopus laevis-like"", ""apical protein-like (Xenopus laevis)"""	APXL		7795590, 16615870	Standard	NM_001649		Approved		uc004csu.1	Q13796	OTTHUMG00000021121	ENST00000380913.3:c.200A>G	X.37:g.9841726A>G	ENSP00000370299:p.Lys67Arg	660	B9EIQ7	Missense_Mutation	SNP	pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.K67R	ENST00000380913.3	37	c.200	CCDS14135.1	X	.	.	.	.	.	.	.	.	.	.	A	10.81	1.456691	0.26161	.	.	ENSG00000146950	ENST00000380913	T	0.28895	1.59	5.23	1.4	0.22301	PDZ/DHR/GLGF (4);	0.639128	0.15655	N	0.251167	T	0.23766	0.0575	L	0.33293	1	0.80722	D	1	P	0.40515	0.719	P	0.46144	0.505	T	0.11616	-1.0580	10	0.39692	T	0.17	-32.2482	1.6162	0.02704	0.5672:0.1413:0.1528:0.1387	.	67	Q13796	SHRM2_HUMAN	R	67	ENSP00000370299:K67R	ENSP00000370299:K67R	K	+	2	0	SHROOM2	9801726	1.000000	0.71417	0.063000	0.19743	0.003000	0.03518	3.245000	0.51407	-0.081000	0.12662	-0.314000	0.08810	AAG	SHROOM2	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000146950		0.532	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHROOM2	HGNC	protein_coding	OTTHUMT00000055721.1	51	0.00	0	A	NM_001649		9841726	9841726	+1	no_errors	ENST00000380913	ensembl	human	known	69_37n	missense	10	64.29	18	SNP	0.947	G
SLC51A	200931	genome.wustl.edu	37	3	195956806	195956806	+	Silent	SNP	T	T	G			TCGA-D8-A1XA-01A-11D-A14G-09	TCGA-D8-A1XA-10A-01D-A14G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a362780b-8917-4438-9693-ec9fa84c352a	81ee32ae-fc65-4e2c-bbac-2e22214f817b	g.chr3:195956806T>G	ENST00000296327.5	+	7	863	c.654T>G	c.(652-654)gcT>gcG	p.A218A	PCYT1A_ENST00000419333.1_3'UTR	NM_152672.5	NP_689885.4	Q86UW1	OSTA_HUMAN	solute carrier family 51, alpha subunit	218					bile acid and bile salt transport (GO:0015721)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)									Conjugated Estrogens(DB00286)|Digoxin(DB00390)|Dinoprostone(DB00917)	GGAGCACAGCTCTATGGATCA	0.532																																						dbGAP											0													119.0	107.0	111.0					3																	195956806		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS3314.1	3q29	2013-05-22			ENSG00000163959	ENSG00000163959		"""Solute carriers"""	29955	protein-coding gene	gene with protein product	"""organic solute transporter, alpha subunit"""	612084				12719432, 20538072	Standard	NM_152672		Approved	OSTalpha	uc003fwd.3	Q86UW1	OTTHUMG00000155684	ENST00000296327.5:c.654T>G	3.37:g.195956806T>G			Q6ZMC7	Silent	SNP	pfam_Ost-alpha	p.A218	ENST00000296327.5	37	c.654	CCDS3314.1	3																																																																																			SLC51A	-	pfam_Ost-alpha	ENSG00000163959		0.532	SLC51A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC51A	HGNC	protein_coding	OTTHUMT00000341253.1	84	0.00	0	T	NM_152672		195956806	195956806	+1	no_errors	ENST00000296327	ensembl	human	known	69_37n	silent	38	42.42	28	SNP	0.986	G
TMEM138	51524	genome.wustl.edu	37	11	61135442	61135442	+	Silent	SNP	T	T	C			TCGA-D8-A1XA-01A-11D-A14G-09	TCGA-D8-A1XA-10A-01D-A14G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a362780b-8917-4438-9693-ec9fa84c352a	81ee32ae-fc65-4e2c-bbac-2e22214f817b	g.chr11:61135442T>C	ENST00000278826.6	+	4	907	c.348T>C	c.(346-348)ctT>ctC	p.L116L	TMEM138_ENST00000542946.1_3'UTR|TMEM138_ENST00000381787.2_Silent_p.L58L	NM_016464.4	NP_057548.1	Q9NPI0	TM138_HUMAN	transmembrane protein 138	116					cilium assembly (GO:0042384)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|vacuole (GO:0005773)				central_nervous_system(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5						CAGATGGACTTCAAATGCTGT	0.463																																						dbGAP											0													220.0	221.0	221.0					11																	61135442		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			AF151030	CCDS8005.1	11q12.2	2014-01-28			ENSG00000149483	ENSG00000149483			26944	protein-coding gene	gene with protein product		614459					Standard	NM_016464		Approved	HSPC196, JBTS16	uc001nrl.2	Q9NPI0	OTTHUMG00000168145	ENST00000278826.6:c.348T>C	11.37:g.61135442T>C			A6NGA7|B4E044|Q5JPE1	Silent	SNP	NULL	p.L116	ENST00000278826.6	37	c.348	CCDS8005.1	11																																																																																			TMEM138	-	NULL	ENSG00000149483		0.463	TMEM138-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM138	HGNC	protein_coding	OTTHUMT00000398399.2	98	0.00	0	T	NM_016464		61135442	61135442	+1	no_errors	ENST00000278826	ensembl	human	known	69_37n	silent	39	48.68	37	SNP	0.157	C
TP53	7157	genome.wustl.edu	37	17	7577022	7577022	+	Nonsense_Mutation	SNP	G	G	A	rs121913344		TCGA-D8-A1XA-01A-11D-A14G-09	TCGA-D8-A1XA-10A-01D-A14G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a362780b-8917-4438-9693-ec9fa84c352a	81ee32ae-fc65-4e2c-bbac-2e22214f817b	g.chr17:7577022G>A	ENST00000269305.4	-	8	1105	c.916C>T	c.(916-918)Cga>Tga	p.R306*	TP53_ENST00000445888.2_Nonsense_Mutation_p.R306*|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Nonsense_Mutation_p.R306*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R306*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R306*|TP53_ENST00000574684.1_5'Flank	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	306	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.		R -> P (in LFS; germline mutation and in a sporadic cancer; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R306*(133)|p.0?(8)|p.?(3)|p.R306fs*39(2)|p.K305fs*1(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TGCTTACCTCGCTTAGTGCTC	0.562	R306*(HCC1937_BREAST)|R306*(JURLMK1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(MFE296_ENDOMETRIUM)|R306*(MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(RCM1_LARGE_INTESTINE)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	147	Substitution - Nonsense(133)|Whole gene deletion(8)|Unknown(3)|Deletion - Frameshift(2)|Insertion - Frameshift(1)	large_intestine(39)|breast(21)|upper_aerodigestive_tract(15)|ovary(11)|central_nervous_system(10)|oesophagus(10)|stomach(8)|lung(8)|endometrium(6)|bone(4)|pancreas(3)|haematopoietic_and_lymphoid_tissue(3)|biliary_tract(3)|kidney(2)|NS(2)|urinary_tract(1)|liver(1)	GRCh37	CM971506	TP53	M	rs121913344						120.0	106.0	110.0					17																	7577022		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.916C>T	17.37:g.7577022G>A	ENSP00000269305:p.Arg306*		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R306*	ENST00000269305.4	37	c.916	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	26.9	4.782988	0.90282	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	.	.	.	5.26	3.21	0.36854	.	1.348720	0.05032	N	0.474808	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.4785	0.44678	0.0:0.0:0.6334:0.3666	.	.	.	.	X	306;306;306;306;306;295;174	.	ENSP00000269305:R306X	R	-	1	2	TP53	7517747	1.000000	0.71417	0.970000	0.41538	0.345000	0.29048	2.280000	0.43443	0.735000	0.32537	0.561000	0.74099	CGA	TP53	-	NULL	ENSG00000141510		0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	84	0.00	0	G	NM_000546		7577022	7577022	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	nonsense	8	82.61	38	SNP	1.000	A
ZFP36L1	677	genome.wustl.edu	37	14	69256738	69256739	+	In_Frame_Ins	INS	-	-	GAT			TCGA-D8-A1XA-01A-11D-A14G-09	TCGA-D8-A1XA-10A-01D-A14G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a362780b-8917-4438-9693-ec9fa84c352a	81ee32ae-fc65-4e2c-bbac-2e22214f817b	g.chr14:69256738_69256739insGAT	ENST00000439696.2	-	2	829_830	c.528_529insATC	c.(526-531)atccac>atcATCcac	p.176_177insI	ZFP36L1_ENST00000555997.1_3'UTR|ZFP36L1_ENST00000336440.3_In_Frame_Ins_p.176_177insI	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	176					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|T cell differentiation in thymus (GO:0033077)|vasculogenesis (GO:0001570)	cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.I176delI(1)		breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		TCAGCGTTGTGGATGAAGTGGC	0.663											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											1	Deletion - In frame(1)	breast(1)																																								-	-	-	SO:0001652	inframe_insertion	0			X79066	CCDS9791.1	14q22-q24	2012-11-27	2012-11-27	2001-11-23		ENSG00000185650		"""RING-type (C3HC4) zinc fingers"""	1107	protein-coding gene	gene with protein product		601064	"""zinc finger protein, C3H type, 36-like 1"", ""zinc finger protein 36, C3H type-like 1"""	BRF1		8024689	Standard	NM_004926		Approved	RNF162B, Berg36, ERF1, TIS11B, cMG1	uc021rve.1	Q07352		ENST00000439696.2:c.526_528dupATC	14.37:g.69256739_69256741dupGAT	ENSP00000388402:p.Ile176_Ile176dup	1113	Q13851	In_Frame_Ins	INS	pfam_Tis11B_N,pfam_Znf_CCCH,smart_Znf_CCCH	p.176in_frame_insI	ENST00000439696.2	37	c.529_528	CCDS9791.1	14																																																																																			ZFP36L1	-	pfam_Znf_CCCH,smart_Znf_CCCH	ENSG00000185650		0.663	ZFP36L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP36L1	HGNC	protein_coding	OTTHUMT00000413227.1	23	0.00	0	-			69256738	69256739	-1	no_errors	ENST00000336440	ensembl	human	known	69_37n	in_frame_ins	4	42.86	3	INS	1.000:1.000	GAT
