#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
AFG3L1P	172	genome.wustl.edu	37	16	90059193	90059193	+	RNA	SNP	G	G	A			TCGA-EW-A1PA-01A-11D-A142-09	TCGA-EW-A1PA-10A-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	56c8aca4-b3bd-4791-b05d-0b2338b6346d	278dc7a3-0378-4bdc-98b7-436bf0a2ab6e	g.chr16:90059193G>A	ENST00000437774.1	+	0	1034					NR_003226.1				AFG3-like AAA ATPase 1, pseudogene																		TCCTGGACCCGGCCCTCATGC	0.582																																						dbGAP											0													34.0	38.0	37.0					16																	90059193		692	1591	2283	-	-	-			0			AJ001495		16q24.3	2013-10-17	2013-10-17	2010-10-28	ENSG00000223959	ENSG00000223959		"""ATPases / AAA-type"""	314	pseudogene	pseudogene		603020	"""AFG3 ATPase family gene 3-like 1 (S. cerevisiae), pseudogene"", ""AFG3 ATPase family member 3-like 1 (S. cerevisiae), pseudogene"""	AFG3, AFG3L1		9545647, 11549317	Standard	NR_003228		Approved		uc002fpz.1		OTTHUMG00000138987		16.37:g.90059193G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000437774.1	37	NULL		16																																																																																			AFG3L1P	-	-	ENSG00000223959		0.582	AFG3L1P-004	KNOWN	basic	processed_transcript	AFG3L1P	HGNC	pseudogene	OTTHUMT00000316791.1	9	0.00	0	G	NR_003226		90059193	90059193	+1	no_errors	ENST00000388970	ensembl	human	known	69_37n	rna	7	61.11	11	SNP	0.661	A
CCNB3	85417	genome.wustl.edu	37	X	50051515	50051515	+	Missense_Mutation	SNP	G	G	A			TCGA-EW-A1PA-01A-11D-A142-09	TCGA-EW-A1PA-10A-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	56c8aca4-b3bd-4791-b05d-0b2338b6346d	278dc7a3-0378-4bdc-98b7-436bf0a2ab6e	g.chrX:50051515G>A	ENST00000376042.1	+	6	644	c.346G>A	c.(346-348)Gaa>Aaa	p.E116K	CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.E116K			Q8WWL7	CCNB3_HUMAN	cyclin B3	116					meiotic nuclear division (GO:0007126)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)	nucleus (GO:0005634)				breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					GCATAAGCTGGAAGTCACACC	0.413																																						dbGAP											0													63.0	49.0	54.0					X																	50051515		2202	4299	6501	-	-	-	SO:0001583	missense	0			AJ314764	CCDS14331.1, CCDS14332.1	Xp11	2008-07-03			ENSG00000147082	ENSG00000147082			18709	protein-coding gene	gene with protein product		300456				11846420, 12185076	Standard	XM_006724610		Approved		uc004doy.3	Q8WWL7	OTTHUMG00000021519	ENST00000376042.1:c.346G>A	X.37:g.50051515G>A	ENSP00000365210:p.Glu116Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AQI5|B1AQI6|Q96SB5|Q96SB6|Q96SB7|Q9NT38	Missense_Mutation	SNP	pfam_Cyclin_N,pfam_Cyclin_C,superfamily_Cyclin-like,smart_Cyclin-like	p.E116K	ENST00000376042.1	37	c.346	CCDS14331.1	X	.	.	.	.	.	.	.	.	.	.	G	13.41	2.229233	0.39399	.	.	ENSG00000147082	ENST00000376042;ENST00000276014	T;T	0.11821	2.74;2.74	4.17	-0.266	0.12942	.	23.117800	0.00531	N	0.000218	T	0.13713	0.0332	L	0.43152	1.355	0.09310	N	1	B	0.20780	0.048	B	0.22386	0.039	T	0.27226	-1.0080	9	.	.	.	.	6.7946	0.23719	0.6047:0.0:0.3953:0.0	.	116	Q8WWL7	CCNB3_HUMAN	K	116	ENSP00000365210:E116K;ENSP00000276014:E116K	.	E	+	1	0	CCNB3	50068255	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.133000	0.10451	-0.188000	0.10499	-0.199000	0.12753	GAA	CCNB3	-	NULL	ENSG00000147082		0.413	CCNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNB3	HGNC	protein_coding	OTTHUMT00000056558.1	53	0.00	0	G			50051515	50051515	+1	no_errors	ENST00000276014	ensembl	human	known	69_37n	missense	36	23.40	11	SNP	0.000	A
CRNKL1	51340	genome.wustl.edu	37	20	20023016	20023016	+	Missense_Mutation	SNP	T	T	A			TCGA-EW-A1PA-01A-11D-A142-09	TCGA-EW-A1PA-10A-01D-A142-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	56c8aca4-b3bd-4791-b05d-0b2338b6346d	278dc7a3-0378-4bdc-98b7-436bf0a2ab6e	g.chr20:20023016T>A	ENST00000377340.2	-	9	1631	c.1600A>T	c.(1600-1602)Att>Ttt	p.I534F	CRNKL1_ENST00000536226.1_Missense_Mutation_p.I373F|CRNKL1_ENST00000377327.4_Missense_Mutation_p.I522F	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	534	Mediates interaction with HSP90. {ECO:0000250|UniProtKB:P63154}.				mRNA splicing, via spliceosome (GO:0000398)|spliceosomal complex assembly (GO:0000245)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						CAAAGATAAATGTAGCGCTTC	0.438																																						dbGAP											0													148.0	138.0	141.0					20																	20023016		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF255443	CCDS33446.1, CCDS63238.1, CCDS63239.1	20p11.2	2013-10-03	2013-10-03		ENSG00000101343	ENSG00000101343			15762	protein-coding gene	gene with protein product	"""SYF3 pre-mRNA-splicing factor"""	610952	"""crooked neck (Drosophila Crn homolog)-like 1"", ""Crn, crooked neck-like 1 (Drosophila)"", ""crooked neck pre-mRNA splicing factor-like 1 (Drosophila)"""				Standard	NM_016652		Approved	CRN, CLF, SYF3, Clf1	uc002wrs.3	Q9BZJ0	OTTHUMG00000032000	ENST00000377340.2:c.1600A>T	20.37:g.20023016T>A	ENSP00000366557:p.Ile534Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9T4|Q5JY64|Q8WYI5|Q9BZI9|Q9BZJ1|Q9BZJ2|Q9GZW7|Q9H8F8|Q9NQH5|Q9NYD8	Missense_Mutation	SNP	pfam_HAT,pfam_Suf,smart_HAT,pfscan_TPR-contain_dom	p.I534F	ENST00000377340.2	37	c.1600	CCDS33446.1	20	.	.	.	.	.	.	.	.	.	.	T	21.9	4.220191	0.79464	.	.	ENSG00000101343	ENST00000377327;ENST00000377340;ENST00000536226	T;T;T	0.34859	1.34;1.34;1.34	5.93	3.69	0.42338	Tetratricopeptide-like helical (1);	0.134936	0.64402	D	0.000003	T	0.67832	0.2935	H	0.96633	3.855	0.80722	D	1	D	0.54601	0.967	D	0.64237	0.923	T	0.75393	-0.3333	10	0.87932	D	0	-12.6639	9.8755	0.41200	0.0:0.1369:0.0:0.8631	.	534	Q9BZJ0	CRNL1_HUMAN	F	522;534;373	ENSP00000366544:I522F;ENSP00000366557:I534F;ENSP00000440733:I373F	ENSP00000366544:I522F	I	-	1	0	CRNKL1	19971016	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	3.521000	0.53472	1.062000	0.40625	-0.256000	0.11100	ATT	CRNKL1	-	smart_HAT	ENSG00000101343		0.438	CRNKL1-002	KNOWN	basic|CCDS	protein_coding	CRNKL1	HGNC	protein_coding	OTTHUMT00000127787.1	77	0.00	0	T			20023016	20023016	-1	no_errors	ENST00000377340	ensembl	human	known	69_37n	missense	34	42.37	25	SNP	1.000	A
CXorf57	55086	genome.wustl.edu	37	X	105921404	105921404	+	Silent	SNP	C	C	T			TCGA-EW-A1PA-01A-11D-A142-09	TCGA-EW-A1PA-10A-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	56c8aca4-b3bd-4791-b05d-0b2338b6346d	278dc7a3-0378-4bdc-98b7-436bf0a2ab6e	g.chrX:105921404C>T	ENST00000372548.4	+	14	2593	c.2484C>T	c.(2482-2484)gtC>gtT	p.V828V	CXorf57_ENST00000372544.2_Silent_p.V731V	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN	chromosome X open reading frame 57	828							poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						TGCATATCGTCGGTATCTTGG	0.303																																						dbGAP											0													96.0	97.0	96.0					X																	105921404		2203	4293	6496	-	-	-	SO:0001819	synonymous_variant	0			AK024253	CCDS14519.1, CCDS55470.1	Xq22.3	2008-02-05			ENSG00000147231	ENSG00000147231			25486	protein-coding gene	gene with protein product							Standard	NM_018015		Approved	FLJ14191, FLJ10178	uc004emi.4	Q6NSI4	OTTHUMG00000022150	ENST00000372548.4:c.2484C>T	X.37:g.105921404C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	H7BY89|Q4G0L7|Q5JQS1|Q5JRF9|Q6PHY5|Q6PII9|Q6PJU8|Q9H7W5|Q9NWA6	Silent	SNP	superfamily_NA-bd_OB-fold-like	p.V828	ENST00000372548.4	37	c.2484	CCDS14519.1	X																																																																																			CXorf57	-	NULL	ENSG00000147231		0.303	CXorf57-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CXorf57	HGNC	protein_coding	OTTHUMT00000057800.2	57	0.00	0	C	NM_018015		105921404	105921404	+1	no_errors	ENST00000372548	ensembl	human	known	69_37n	silent	35	31.37	16	SNP	0.207	T
DCHS2	54798	genome.wustl.edu	37	4	155161799	155161799	+	Missense_Mutation	SNP	C	C	T			TCGA-EW-A1PA-01A-11D-A142-09	TCGA-EW-A1PA-10A-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	56c8aca4-b3bd-4791-b05d-0b2338b6346d	278dc7a3-0378-4bdc-98b7-436bf0a2ab6e	g.chr4:155161799C>T	ENST00000357232.4	-	23	5883	c.5884G>A	c.(5884-5886)Gag>Aag	p.E1962K		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1962	Cadherin 17. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		ATGAGCAGCTCATATTCAGTC	0.423																																						dbGAP											0													129.0	117.0	121.0					4																	155161799		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.5884G>A	4.37:g.155161799C>T	ENSP00000349768:p.Glu1962Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.E1962K	ENST00000357232.4	37	c.5884	CCDS3785.1	4	.	.	.	.	.	.	.	.	.	.	C	0.007	-1.990477	0.00439	.	.	ENSG00000197410	ENST00000357232	T	0.54071	0.59	5.96	-2.14	0.07123	Cadherin (4);Cadherin-like (1);	0.896405	0.09709	N	0.765946	T	0.33933	0.0880	L	0.43598	1.365	0.09310	N	0.999999	B	0.15141	0.012	B	0.15052	0.012	T	0.32719	-0.9896	10	0.06891	T	0.86	.	4.6263	0.12479	0.0895:0.4191:0.0878:0.4036	.	1962	Q6V1P9	PCD23_HUMAN	K	1962	ENSP00000349768:E1962K	ENSP00000349768:E1962K	E	-	1	0	DCHS2	155381249	0.008000	0.16893	0.005000	0.12908	0.014000	0.08584	-0.044000	0.12023	-0.556000	0.06134	-2.100000	0.00362	GAG	DCHS2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000197410		0.423	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS2	HGNC	protein_coding	OTTHUMT00000365281.2	51	0.00	0	C	NM_001142552		155161799	155161799	-1	no_errors	ENST00000357232	ensembl	human	known	69_37n	missense	39	20.41	10	SNP	0.096	T
DNMT1	1786	genome.wustl.edu	37	19	10259657	10259657	+	Missense_Mutation	SNP	C	C	T			TCGA-EW-A1PA-01A-11D-A142-09	TCGA-EW-A1PA-10A-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	56c8aca4-b3bd-4791-b05d-0b2338b6346d	278dc7a3-0378-4bdc-98b7-436bf0a2ab6e	g.chr19:10259657C>T	ENST00000340748.4	-	26	2810	c.2575G>A	c.(2575-2577)Gac>Aac	p.D859N	DNMT1_ENST00000540357.1_Missense_Mutation_p.D859N|DNMT1_ENST00000359526.4_Missense_Mutation_p.D875N			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	859	BAH 1. {ECO:0000255|PROSITE- ProRule:PRU00370}.				cellular response to amino acid stimulus (GO:0071230)|chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|gene silencing (GO:0016458)|maintenance of DNA methylation (GO:0010216)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methyl-CpG binding (GO:0008327)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035)	GTCTTCCCGTCGTCCCCCTCC	0.552																																						dbGAP											0													136.0	102.0	113.0					19																	10259657		2203	4300	6503	-	-	-	SO:0001583	missense	0			X63692	CCDS12228.1, CCDS45958.1	19p13.2	2014-09-17				ENSG00000130816	2.1.1.37		2976	protein-coding gene	gene with protein product		126375		DNMT		1594447	Standard	NM_001379		Approved	MCMT, CXXC9	uc010xlc.2	P26358		ENST00000340748.4:c.2575G>A	19.37:g.10259657C>T	ENSP00000345739:p.Asp859Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Missense_Mutation	SNP	pirsf_DNA_C5-MeTrfase_1_euk,pfam_C5_MeTfrase,pfam_BAH_dom,pfam_Cytosine_MeTrfase1_RFD,pfam_DMAP1-bd,pfam_Znf_CXXC,smart_BAH_dom,prints_C5_MeTfrase,pfscan_BAH_dom,pfscan_Znf_CXXC	p.D875N	ENST00000340748.4	37	c.2623	CCDS12228.1	19	.	.	.	.	.	.	.	.	.	.	C	18.90	3.721247	0.68959	.	.	ENSG00000130816	ENST00000359526;ENST00000540357;ENST00000340748;ENST00000541266	D;D;D	0.85773	-2.03;-2.03;-2.03	5.01	1.79	0.24919	Bromo adjacent homology (BAH) domain (3);	0.297402	0.36893	N	0.002346	T	0.80691	0.4671	L	0.58583	1.82	0.41610	D	0.988908	B;B;B	0.24963	0.094;0.094;0.115	B;B;B	0.28385	0.053;0.043;0.089	T	0.73471	-0.3972	10	0.41790	T	0.15	.	9.2499	0.37549	0.0:0.7617:0.0:0.2383	.	859;875;859	F5GX68;P26358-2;P26358	.;.;DNMT1_HUMAN	N	875;859;859;727	ENSP00000352516:D875N;ENSP00000440457:D859N;ENSP00000345739:D859N	ENSP00000345739:D859N	D	-	1	0	DNMT1	10120657	0.984000	0.35163	0.001000	0.08648	0.461000	0.32589	2.852000	0.48310	0.312000	0.23038	0.650000	0.86243	GAC	DNMT1	-	pirsf_DNA_C5-MeTrfase_1_euk,pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom	ENSG00000130816		0.552	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	DNMT1	HGNC	protein_coding	OTTHUMT00000451166.1	35	0.00	0	C	NM_001379		10259657	10259657	-1	no_errors	ENST00000359526	ensembl	human	known	69_37n	missense	8	42.86	6	SNP	0.538	T
EIF2B2	8892	genome.wustl.edu	37	14	75470300	75470300	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EW-A1PA-01A-11D-A142-09	TCGA-EW-A1PA-10A-01D-A142-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	56c8aca4-b3bd-4791-b05d-0b2338b6346d	278dc7a3-0378-4bdc-98b7-436bf0a2ab6e	g.chr14:75470300A>T	ENST00000266126.5	+	3	411	c.331A>T	c.(331-333)Aaa>Taa	p.K111*	RP11-950C14.3_ENST00000554430.1_RNA	NM_014239.3	NP_055054.1	P49770	EI2BB_HUMAN	eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa	111					cellular protein metabolic process (GO:0044267)|cellular response to stimulus (GO:0051716)|central nervous system development (GO:0007417)|gene expression (GO:0010467)|myelination (GO:0042552)|oligodendrocyte development (GO:0014003)|ovarian follicle development (GO:0001541)|positive regulation of GTPase activity (GO:0043547)|regulation of translational initiation (GO:0006446)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|translation initiation factor activity (GO:0003743)			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(234;0.00661)		GTCCCTGCACAAACTGTTGAC	0.527																																						dbGAP											0													121.0	103.0	109.0					14																	75470300		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS9836.1	14q24.3	2008-08-11	2002-08-29			ENSG00000119718			3258	protein-coding gene	gene with protein product		606454	"""eukaryotic translation initiation factor 2B, subunit 2 (beta, 39kD)"""			8887689	Standard	NM_014239		Approved	EIF2B, EIF-2Bbeta	uc001xrc.2	P49770		ENST00000266126.5:c.331A>T	14.37:g.75470300A>T	ENSP00000266126:p.Lys111*	Somatic		WXS	Illumina GAIIx	Phase_IV	O43201	Nonsense_Mutation	SNP	pfam_IF-2B-related	p.K111*	ENST00000266126.5	37	c.331	CCDS9836.1	14	.	.	.	.	.	.	.	.	.	.	A	29.8	5.037735	0.93630	.	.	ENSG00000119718	ENST00000266126	.	.	.	5.75	5.75	0.90469	.	0.045266	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.6078	16.0555	0.80801	1.0:0.0:0.0:0.0	.	.	.	.	X	111	.	ENSP00000266126:K111X	K	+	1	0	EIF2B2	74540053	1.000000	0.71417	1.000000	0.80357	0.811000	0.45836	9.339000	0.96797	2.185000	0.69588	0.459000	0.35465	AAA	EIF2B2	-	pfam_IF-2B-related	ENSG00000119718		0.527	EIF2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2B2	HGNC	protein_coding	OTTHUMT00000414993.1	42	0.00	0	A	NM_014239		75470300	75470300	+1	no_errors	ENST00000266126	ensembl	human	known	69_37n	nonsense	40	23.08	12	SNP	1.000	T
KCTD16	57528	genome.wustl.edu	37	5	143853531	143853531	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EW-A1PA-01A-11D-A142-09	TCGA-EW-A1PA-10A-01D-A142-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	56c8aca4-b3bd-4791-b05d-0b2338b6346d	278dc7a3-0378-4bdc-98b7-436bf0a2ab6e	g.chr5:143853531delA	ENST00000507359.3	+	3	2232	c.1141delA	c.(1141-1143)aaafs	p.K383fs	KCTD16_ENST00000512467.1_Frame_Shift_Del_p.K383fs	NM_020768.3	NP_065819.1	Q68DU8	KCD16_HUMAN	potassium channel tetramerization domain containing 16	383					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)				large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			CATGAGCAGCAAAAAAAAAGC	0.468																																						dbGAP											0										51,4211		5,41,2085	53.0	63.0	59.0			4.8	1.0	5		61	75,8177		18,39,4069	no	frameshift	KCTD16	NM_020768.3		23,80,6154	A1A1,A1R,RR		0.9089,1.1966,1.0069			143853531	126,12388	2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AB037738	CCDS34260.1	5q32	2013-06-20	2013-06-20		ENSG00000183775	ENSG00000183775			29244	protein-coding gene	gene with protein product		613423	"""potassium channel tetramerisation domain containing 16"""			10718198	Standard	NM_020768		Approved	KIAA1317	uc003lnm.1	Q68DU8	OTTHUMG00000163172	ENST00000507359.3:c.1141delA	5.37:g.143853531delA	ENSP00000426548:p.Lys383fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9P2M9	Frame_Shift_Del	DEL	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like	p.A384fs	ENST00000507359.3	37	c.1141	CCDS34260.1	5																																																																																			KCTD16	-	NULL	ENSG00000183775		0.468	KCTD16-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KCTD16	HGNC	protein_coding	OTTHUMT00000371898.3	26	0.00	0	A	XM_098368		143853531	143853531	+1	no_errors	ENST00000507359	ensembl	human	known	69_37n	frame_shift_del	21	19.23	5	DEL	1.000	-
MRGPRX4	117196	genome.wustl.edu	37	11	18195501	18195501	+	Missense_Mutation	SNP	G	G	T			TCGA-EW-A1PA-01A-11D-A142-09	TCGA-EW-A1PA-10A-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	56c8aca4-b3bd-4791-b05d-0b2338b6346d	278dc7a3-0378-4bdc-98b7-436bf0a2ab6e	g.chr11:18195501G>T	ENST00000314254.3	+	1	1118	c.698G>T	c.(697-699)gGc>gTc	p.G233V	RP11-113D6.6_ENST00000527671.1_Intron	NM_054032.3	NP_473373.2	Q96LA9	MRGX4_HUMAN	MAS-related GPR, member X4	233						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						CTGCCCTTCGGCATTCTGGGG	0.522																																						dbGAP											0													92.0	87.0	88.0					11																	18195501		2199	4293	6492	-	-	-	SO:0001583	missense	0			AY042216	CCDS7831.1	11p15.1	2013-10-10			ENSG00000179817	ENSG00000179817		"""GPCR / Class A : Orphans"""	17617	protein-coding gene	gene with protein product		607230				11551509	Standard	NM_054032		Approved	MRGX4	uc001mnv.1	Q96LA9	OTTHUMG00000166442	ENST00000314254.3:c.698G>T	11.37:g.18195501G>T	ENSP00000314042:p.Gly233Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3KNU3|Q3KNU4|Q502W0|Q8TDD6|Q8TDD7	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	p.G233V	ENST00000314254.3	37	c.698	CCDS7831.1	11	.	.	.	.	.	.	.	.	.	.	G	12.34	1.909183	0.33721	.	.	ENSG00000179817	ENST00000314254	T	0.37915	1.17	2.85	0.842	0.18927	GPCR, rhodopsin-like superfamily (1);	0.194885	0.36338	N	0.002650	T	0.51500	0.1678	M	0.81614	2.55	0.09310	N	1	D	0.89917	1.0	D	0.80764	0.994	T	0.33675	-0.9859	10	0.52906	T	0.07	.	2.8073	0.05431	0.2645:0.2661:0.4694:0.0	.	233	Q96LA9	MRGX4_HUMAN	V	233	ENSP00000314042:G233V	ENSP00000314042:G233V	G	+	2	0	MRGPRX4	18152077	0.001000	0.12720	0.002000	0.10522	0.010000	0.07245	1.020000	0.30027	0.521000	0.28445	0.430000	0.28490	GGC	MRGPRX4	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000179817		0.522	MRGPRX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRGPRX4	HGNC	protein_coding	OTTHUMT00000389788.1	69	0.00	0	G	NM_054032		18195501	18195501	+1	no_errors	ENST00000314254	ensembl	human	known	69_37n	missense	43	25.86	15	SNP	0.002	T
MTM1	4534	genome.wustl.edu	37	X	149826404	149826404	+	Missense_Mutation	SNP	G	G	C			TCGA-EW-A1PA-01A-11D-A142-09	TCGA-EW-A1PA-10A-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	56c8aca4-b3bd-4791-b05d-0b2338b6346d	278dc7a3-0378-4bdc-98b7-436bf0a2ab6e	g.chrX:149826404G>C	ENST00000370396.2	+	11	1218	c.1164G>C	c.(1162-1164)ttG>ttC	p.L388F	MTM1_ENST00000542741.1_Missense_Mutation_p.L293F|MTM1_ENST00000543350.1_Missense_Mutation_p.L273F|MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000413012.2_Missense_Mutation_p.L351F	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN	myotubularin 1	388	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				endosome to lysosome transport (GO:0008333)|intermediate filament organization (GO:0045109)|mitochondrion distribution (GO:0048311)|mitochondrion morphogenesis (GO:0070584)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|protein transport (GO:0015031)|regulation of vacuole organization (GO:0044088)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	intermediate filament binding (GO:0019215)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Acute lymphoblastic leukemia(192;6.56e-05)					TGACATCCTTGGCCATGCTGA	0.443																																						dbGAP											0													160.0	135.0	143.0					X																	149826404		2203	4300	6503	-	-	-	SO:0001583	missense	0			U46024	CCDS14694.1	Xq27.3-q28	2014-09-17			ENSG00000171100	ENSG00000171100		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7448	protein-coding gene	gene with protein product		300415	"""myotubular myopathy 1"""				Standard	NM_000252		Approved		uc004fef.4	Q13496	OTTHUMG00000024158	ENST00000370396.2:c.1164G>C	X.37:g.149826404G>C	ENSP00000359423:p.Leu388Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NDB1|B7Z491|F2Z330|Q8NEL1	Missense_Mutation	SNP	pfam_Myotub-related,pfam_GRAM,smart_GRAM,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase	p.L388F	ENST00000370396.2	37	c.1164	CCDS14694.1	X	.	.	.	.	.	.	.	.	.	.	G	17.60	3.430756	0.62844	.	.	ENSG00000171100	ENST00000370396;ENST00000542741;ENST00000543350;ENST00000413012	D;D;D;D	0.97016	-4.21;-4.21;-4.21;-4.21	5.68	2.38	0.29361	Myotubularin phosphatase domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.98871	0.9618	H	0.99626	4.665	0.47737	D	0.999503	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.97461	1.0034	10	0.87932	D	0	.	9.5108	0.39076	0.1006:0.52:0.3794:0.0	.	351;388	B7Z491;Q13496	.;MTM1_HUMAN	F	388;293;273;351	ENSP00000359423:L388F;ENSP00000444015:L293F;ENSP00000439784:L273F;ENSP00000389157:L351F	ENSP00000359423:L388F	L	+	3	2	MTM1	149577062	1.000000	0.71417	0.999000	0.59377	0.971000	0.66376	1.270000	0.33086	0.519000	0.28406	0.538000	0.68166	TTG	MTM1	-	smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase	ENSG00000171100		0.443	MTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MTM1	HGNC	protein_coding	OTTHUMT00000060847.3	44	0.00	0	G	NM_000252		149826404	149826404	+1	no_errors	ENST00000370396	ensembl	human	known	69_37n	missense	29	23.68	9	SNP	0.998	C
MUC5B	727897	genome.wustl.edu	37	11	1267311	1267311	+	Silent	SNP	A	A	C			TCGA-EW-A1PA-01A-11D-A142-09	TCGA-EW-A1PA-10A-01D-A142-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	56c8aca4-b3bd-4791-b05d-0b2338b6346d	278dc7a3-0378-4bdc-98b7-436bf0a2ab6e	g.chr11:1267311A>C	ENST00000529681.1	+	31	9259	c.9201A>C	c.(9199-9201)acA>acC	p.T3067T	MUC5B_ENST00000447027.1_Silent_p.T3070T|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3067	17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCAGCTTTACACCCATCCCCT	0.597																																						dbGAP											0													173.0	190.0	184.0					11																	1267311		2100	4208	6308	-	-	-	SO:0001819	synonymous_variant	0			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.9201A>C	11.37:g.1267311A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.T3070	ENST00000529681.1	37	c.9210	CCDS44515.2	11																																																																																			MUC5B	-	NULL	ENSG00000117983		0.597	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	HGNC	protein_coding	OTTHUMT00000390041.2	69	0.00	0	A	XM_001126093		1267311	1267311	+1	no_errors	ENST00000447027	ensembl	human	known	69_37n	silent	36	14.29	6	SNP	0.000	C
MYCBP2	23077	genome.wustl.edu	37	13	77656125	77656125	+	Missense_Mutation	SNP	G	G	C			TCGA-EW-A1PA-01A-11D-A142-09	TCGA-EW-A1PA-10A-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	56c8aca4-b3bd-4791-b05d-0b2338b6346d	278dc7a3-0378-4bdc-98b7-436bf0a2ab6e	g.chr13:77656125G>C	ENST00000544440.2	-	64	10943	c.10926C>G	c.(10924-10926)tgC>tgG	p.C3642W	MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2-AS2_ENST00000428716.2_RNA|MYCBP2-AS1_ENST00000422231.2_RNA|MYCBP2-AS1_ENST00000448470.2_RNA|MYCBP2_ENST00000357337.6_Missense_Mutation_p.C3642W|MYCBP2-AS1_ENST00000450627.2_RNA|MYCBP2_ENST00000407578.2_Missense_Mutation_p.C3680W					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TGAGACTCCAGCACCTAAAAA	0.353																																						dbGAP											0													75.0	71.0	72.0					13																	77656125		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.10926C>G	13.37:g.77656125G>C	ENSP00000444596:p.Cys3642Trp	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,prints_Reg_chr_condens,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens	p.C3680W	ENST00000544440.2	37	c.11040		13	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.70|16.70	3.196536|3.196536	0.58126|0.58126	.|.	.|.	ENSG00000005810|ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440|ENST00000429715	T;T;T|.	0.69435|.	-0.4;-0.4;-0.4|.	5.17|5.17	4.32|4.32	0.51571|0.51571	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.60366|0.60366	0.2263|0.2263	L|L	0.55213|0.55213	1.73|1.73	0.80722|0.80722	D|D	1|1	D|.	0.65815|.	0.995|.	D|.	0.73708|.	0.981|.	T|T	0.58036|0.58036	-0.7707|-0.7707	10|5	0.87932|.	D|.	0|.	.|.	10.3272|10.3272	0.43801|0.43801	0.1517:0.0:0.8483:0.0|0.1517:0.0:0.8483:0.0	.|.	3642|.	O75592|.	MYCB2_HUMAN|.	W|V	3642;3680;3642|66	ENSP00000349892:C3642W;ENSP00000384288:C3680W;ENSP00000444596:C3642W|.	ENSP00000349892:C3642W|.	C|L	-|-	3|1	2|2	MYCBP2|MYCBP2	76554126|76554126	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.956000|0.956000	0.61745|0.61745	1.582000|1.582000	0.36568|0.36568	1.297000|1.297000	0.44761|0.44761	0.655000|0.655000	0.94253|0.94253	TGC|CTG	MYCBP2	-	superfamily_ARM-type_fold	ENSG00000005810		0.353	MYCBP2-001	KNOWN	basic	protein_coding	MYCBP2	HGNC	protein_coding	OTTHUMT00000045326.1	25	0.00	0	G	NM_015057		77656125	77656125	-1	no_errors	ENST00000407578	ensembl	human	known	69_37n	missense	13	35.00	7	SNP	1.000	C
NADSYN1	55191	genome.wustl.edu	37	11	71212359	71212359	+	Silent	SNP	C	C	T	rs150859701		TCGA-EW-A1PA-01A-11D-A142-09	TCGA-EW-A1PA-10A-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	56c8aca4-b3bd-4791-b05d-0b2338b6346d	278dc7a3-0378-4bdc-98b7-436bf0a2ab6e	g.chr11:71212359C>T	ENST00000319023.2	+	21	2270	c.2082C>T	c.(2080-2082)ctC>ctT	p.L694L	NADSYN1_ENST00000530055.1_Silent_p.L323L|NADSYN1_ENST00000539574.1_Silent_p.L434L	NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN	NAD synthetase 1	694	Ligase. {ECO:0000250}.				NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds (GO:0016810)|NAD+ synthase (glutamine-hydrolyzing) activity (GO:0003952)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamine(DB00130)	TGCTACAGCTCGAGAGGGCAG	0.617																																					Ovarian(79;763 1781 6490 50276)	dbGAP											0													47.0	36.0	40.0					11																	71212359		2200	4294	6494	-	-	-	SO:0001819	synonymous_variant	0			AB091316	CCDS8201.1	11q13.4	2008-02-05				ENSG00000172890			29832	protein-coding gene	gene with protein product		608285				12547821	Standard	NM_018161		Approved	FLJ10631	uc001oqn.3	Q6IA69		ENST00000319023.2:c.2082C>T	11.37:g.71212359C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KUU4|Q86SN2|Q9HA25|Q9NVM8	Nonsense_Mutation	SNP	NULL	p.R47*	ENST00000319023.2	37	c.139	CCDS8201.1	11																																																																																			NADSYN1	-	NULL	ENSG00000172890		0.617	NADSYN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NADSYN1	HGNC	protein_coding	OTTHUMT00000394356.1	8	0.00	0	C	NM_018161		71212359	71212359	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000527963	ensembl	human	known	69_37n	nonsense	9	55.00	11	SNP	0.028	T
NOL8	55035	genome.wustl.edu	37	9	95077794	95077794	+	Silent	SNP	T	T	C			TCGA-EW-A1PA-01A-11D-A142-09	TCGA-EW-A1PA-10A-01D-A142-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	56c8aca4-b3bd-4791-b05d-0b2338b6346d	278dc7a3-0378-4bdc-98b7-436bf0a2ab6e	g.chr9:95077794T>C	ENST00000535387.1	-	6	1112	c.1113A>G	c.(1111-1113)agA>agG	p.R371R	NOL8_ENST00000542053.1_Silent_p.R303R|NOL8_ENST00000545558.1_Silent_p.R371R|NOL8_ENST00000442668.2_Silent_p.R371R|NOL8_ENST00000358855.4_Silent_p.R303R					nucleolar protein 8											endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						CACGATCATTTCTCATAATAT	0.338																																						dbGAP											0													64.0	55.0	58.0					9																	95077794		1859	4099	5958	-	-	-	SO:0001819	synonymous_variant	0			AB109030	CCDS47993.1, CCDS59135.1	9q22.32	2013-02-12	2004-01-12	2004-01-14	ENSG00000198000	ENSG00000198000		"""RNA binding motif (RRM) containing"""	23387	protein-coding gene	gene with protein product		611534	"""chromosome 9 open reading frame 34"""	C9orf34		12477932	Standard	NM_017948		Approved	FLJ20736, Nop132	uc022bjx.1	Q76FK4	OTTHUMG00000020221	ENST00000535387.1:c.1113A>G	9.37:g.95077794T>C		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.R371	ENST00000535387.1	37	c.1113	CCDS47993.1	9																																																																																			NOL8	-	NULL	ENSG00000198000		0.338	NOL8-010	NOVEL	basic|exp_conf|CCDS	protein_coding	NOL8	HGNC	protein_coding	OTTHUMT00000053082.2	53	0.00	0	T	NM_017948		95077794	95077794	-1	no_errors	ENST00000442668	ensembl	human	known	69_37n	silent	14	48.15	13	SNP	0.000	C
OR2T8	343172	genome.wustl.edu	37	1	248084511	248084511	+	Silent	SNP	T	T	C	rs41315864		TCGA-EW-A1PA-01A-11D-A142-09	TCGA-EW-A1PA-10A-01D-A142-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	56c8aca4-b3bd-4791-b05d-0b2338b6346d	278dc7a3-0378-4bdc-98b7-436bf0a2ab6e	g.chr1:248084511T>C	ENST00000319968.4	+	1	192	c.192T>C	c.(190-192)ctT>ctC	p.L64L		NM_001005522.1	NP_001005522.1	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T, member 8	64						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(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TGAGCCAACTTTCCCTCATGG	0.562																																						dbGAP											0													81.0	73.0	76.0					1																	248084511		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS31100.1	1q44	2012-08-09		2004-03-10	ENSG00000177462	ENSG00000177462		"""GPCR / Class A : Olfactory receptors"""	15020	protein-coding gene	gene with protein product				OR2T8P			Standard	XM_005273117		Approved		uc010pzc.2	A6NH00	OTTHUMG00000040205	ENST00000319968.4:c.192T>C	1.37:g.248084511T>C		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.L64	ENST00000319968.4	37	c.192	CCDS31100.1	1																																																																																			OR2T8	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000177462		0.562	OR2T8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T8	HGNC	protein_coding	OTTHUMT00000096862.1	65	0.00	0	T	NM_001005522		248084511	248084511	+1	no_errors	ENST00000319968	ensembl	human	known	69_37n	silent	42	20.37	11	SNP	0.001	C
OR4S2	219431	genome.wustl.edu	37	11	55419087	55419087	+	Silent	SNP	C	C	G			TCGA-EW-A1PA-01A-11D-A142-09	TCGA-EW-A1PA-10A-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	56c8aca4-b3bd-4791-b05d-0b2338b6346d	278dc7a3-0378-4bdc-98b7-436bf0a2ab6e	g.chr11:55419087C>G	ENST00000312422.2	+	1	708	c.708C>G	c.(706-708)tcC>tcG	p.S236S		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	236						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				AAGCCCTCTCCACCTGTGGCT	0.498																																						dbGAP											0													168.0	136.0	147.0					11																	55419087		2177	4030	6207	-	-	-	SO:0001819	synonymous_variant	0			BK004390	CCDS31505.1	11q11	2012-08-09	2002-11-13	2002-11-15	ENSG00000174982	ENSG00000174982		"""GPCR / Class A : Olfactory receptors"""	15183	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily S, member 2 pseudogene"""	OR4S2P			Standard	NM_001004059		Approved	OST725	uc001nhs.1	Q8NH73	OTTHUMG00000166799	ENST00000312422.2:c.708C>G	11.37:g.55419087C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IF72	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.S236	ENST00000312422.2	37	c.708	CCDS31505.1	11																																																																																			OR4S2	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt	ENSG00000174982		0.498	OR4S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4S2	HGNC	protein_coding	OTTHUMT00000391503.1	32	0.00	0	C	NM_001004059		55419087	55419087	+1	no_errors	ENST00000312422	ensembl	human	known	69_37n	silent	17	37.04	10	SNP	0.998	G
OR5AS1	219447	genome.wustl.edu	37	11	55798211	55798211	+	Missense_Mutation	SNP	C	C	A			TCGA-EW-A1PA-01A-11D-A142-09	TCGA-EW-A1PA-10A-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	56c8aca4-b3bd-4791-b05d-0b2338b6346d	278dc7a3-0378-4bdc-98b7-436bf0a2ab6e	g.chr11:55798211C>A	ENST00000313555.1	+	1	317	c.317C>A	c.(316-318)tCt>tAt	p.S106Y		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	106						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					TTCTTCGCTTCTTTTGCTGAT	0.458																																						dbGAP											0													106.0	91.0	96.0					11																	55798211		2201	4296	6497	-	-	-	SO:0001583	missense	0			AB065543	CCDS31516.1	11q11	2012-08-09			ENSG00000181785	ENSG00000181785		"""GPCR / Class A : Olfactory receptors"""	15261	protein-coding gene	gene with protein product							Standard	NM_001001921		Approved		uc010riw.2	Q8N127	OTTHUMG00000166830	ENST00000313555.1:c.317C>A	11.37:g.55798211C>A	ENSP00000324111:p.Ser106Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IFB8	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.S106Y	ENST00000313555.1	37	c.317	CCDS31516.1	11	.	.	.	.	.	.	.	.	.	.	C	0.416	-0.910855	0.02434	.	.	ENSG00000181785	ENST00000313555	D	0.82711	-1.64	5.46	2.36	0.29203	GPCR, rhodopsin-like superfamily (1);	0.205916	0.24363	U	0.039178	T	0.75243	0.3823	L	0.47078	1.49	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.65713	-0.6101	10	0.51188	T	0.08	.	8.8571	0.35234	0.0:0.403:0.3594:0.2376	.	106	Q8N127	O5AS1_HUMAN	Y	106	ENSP00000324111:S106Y	ENSP00000324111:S106Y	S	+	2	0	OR5AS1	55554787	0.000000	0.05858	0.985000	0.45067	0.938000	0.57974	-0.268000	0.08607	0.658000	0.30925	-0.178000	0.13098	TCT	OR5AS1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000181785		0.458	OR5AS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5AS1	HGNC	protein_coding	OTTHUMT00000391538.1	49	0.00	0	C	NM_001001921		55798211	55798211	+1	no_errors	ENST00000313555	ensembl	human	known	69_37n	missense	31	18.42	7	SNP	0.001	A
OSR2	116039	genome.wustl.edu	37	8	99961319	99961319	+	Missense_Mutation	SNP	C	C	G			TCGA-EW-A1PA-01A-11D-A142-09	TCGA-EW-A1PA-10A-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	56c8aca4-b3bd-4791-b05d-0b2338b6346d	278dc7a3-0378-4bdc-98b7-436bf0a2ab6e	g.chr8:99961319C>G	ENST00000297565.4	+	2	635	c.139C>G	c.(139-141)Cag>Gag	p.Q47E	OSR2_ENST00000522510.1_Missense_Mutation_p.Q47E|OSR2_ENST00000435298.2_Missense_Mutation_p.Q47E|OSR2_ENST00000457907.2_Missense_Mutation_p.Q168E|OSR2_ENST00000523368.1_Missense_Mutation_p.Q47E	NM_001142462.1	NP_001135934.1	Q8N2R0	OSR2_HUMAN	odd-skipped related transciption factor 2	47					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|chondrocyte differentiation (GO:0002062)|embryo development (GO:0009790)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal joint development (GO:0072498)|embryonic skeletal joint morphogenesis (GO:0060272)|embryonic skeletal limb joint morphogenesis (GO:0036023)|embryonic skeletal system morphogenesis (GO:0048704)|eyelid development in camera-type eye (GO:0061029)|head development (GO:0060322)|mesonephros development (GO:0001823)|metanephros development (GO:0001656)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis (GO:0042476)|osteoblast proliferation (GO:0033687)|palate development (GO:0060021)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gastrulation (GO:2000543)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Breast(36;4.14e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.0136)			CAGCGCGGTACAGACCATGCA	0.642																																						dbGAP											0													46.0	52.0	50.0					8																	99961319		2077	4203	6280	-	-	-	SO:0001583	missense	0			AY038072	CCDS47901.1, CCDS47902.1, CCDS69520.1	8q22.2	2013-10-17	2013-10-17			ENSG00000164920		"""Zinc fingers, C2H2-type"""	15830	protein-coding gene	gene with protein product		611297	"""odd-skipped related 2 (Drosophila)"""				Standard	XM_005250779		Approved	FLJ90037	uc003yir.3	Q8N2R0		ENST00000297565.4:c.139C>G	8.37:g.99961319C>G	ENSP00000297565:p.Gln47Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K626|B4E3B7|Q96AM6|Q96LB6|Q96LB7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q168E	ENST00000297565.4	37	c.502	CCDS47901.1	8	.	.	.	.	.	.	.	.	.	.	C	17.67	3.446268	0.63178	.	.	ENSG00000164920	ENST00000523368;ENST00000297565;ENST00000435298;ENST00000522510;ENST00000457907;ENST00000520951;ENST00000518199	T;T;T;T;T;T;T	0.08634	3.23;3.23;3.45;3.23;3.07;3.26;3.46	3.9	3.9	0.45041	.	0.058841	0.64402	D	0.000001	T	0.09158	0.0226	L	0.36672	1.1	0.80722	D	1	P;B;B;P	0.35844	0.524;0.353;0.16;0.484	B;B;B;B	0.37239	0.244;0.103;0.067;0.174	T	0.35500	-0.9786	9	.	.	.	-19.1198	17.1937	0.86887	0.0:1.0:0.0:0.0	.	168;47;47;47	B4E3B7;E5RH04;Q8N2R0;Q8N2R0-2	.;.;OSR2_HUMAN;.	E	47;47;47;47;168;100;47	ENSP00000430041:Q47E;ENSP00000297565:Q47E;ENSP00000402862:Q47E;ENSP00000430780:Q47E;ENSP00000414657:Q168E;ENSP00000430074:Q100E;ENSP00000429910:Q47E	.	Q	+	1	0	OSR2	100030495	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.609000	0.82925	2.470000	0.83445	0.655000	0.94253	CAG	OSR2	-	NULL	ENSG00000164920		0.642	OSR2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	OSR2	HGNC	protein_coding	OTTHUMT00000379505.1	20	0.00	0	C	NM_053001		99961319	99961319	+1	no_errors	ENST00000457907	ensembl	human	known	69_37n	missense	10	41.18	7	SNP	1.000	G
PDIK1L	149420	genome.wustl.edu	37	1	26448989	26448989	+	Missense_Mutation	SNP	C	C	G			TCGA-EW-A1PA-01A-11D-A142-09	TCGA-EW-A1PA-10A-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	56c8aca4-b3bd-4791-b05d-0b2338b6346d	278dc7a3-0378-4bdc-98b7-436bf0a2ab6e	g.chr1:26448989C>G	ENST00000374271.4	+	4	1234	c.947C>G	c.(946-948)cCt>cGt	p.P316R	PDIK1L_ENST00000374269.1_Missense_Mutation_p.P316R	NM_001243532.1|NM_001243533.1|NM_152835.4	NP_001230461.1|NP_001230462.1|NP_690048.1	Q8N165	PDK1L_HUMAN	PDLIM1 interacting kinase 1 like	316	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	7		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00239)|all_lung(284;0.00366)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000735)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.015)|READ - Rectum adenocarcinoma(331;0.0649)		GCTGCAAACCCTCAGGATCGT	0.383																																						dbGAP											0													70.0	71.0	71.0					1																	26448989		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF411102	CCDS274.1	1p35.1	2008-02-05			ENSG00000175087	ENSG00000175087			18981	protein-coding gene	gene with protein product		610785				14631099	Standard	NM_152835		Approved	CLIK1L	uc009vsb.3	Q8N165	OTTHUMG00000007511	ENST00000374271.4:c.947C>G	1.37:g.26448989C>G	ENSP00000363389:p.Pro316Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R777|D3DPK2|Q5T2I0|Q8NDB3	Missense_Mutation	SNP	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	p.P316R	ENST00000374271.4	37	c.947	CCDS274.1	1	.	.	.	.	.	.	.	.	.	.	C	18.45	3.625630	0.66901	.	.	ENSG00000175087	ENST00000374271;ENST00000374269	T;T	0.34859	1.34;1.34	5.62	5.62	0.85841	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.66636	0.2809	M	0.85630	2.765	0.43175	D	0.994986	D	0.89917	1.0	D	0.85130	0.997	T	0.68868	-0.5295	9	.	.	.	-14.018	19.6343	0.95724	0.0:1.0:0.0:0.0	.	316	Q8N165	PDK1L_HUMAN	R	316	ENSP00000363389:P316R;ENSP00000363387:P316R	.	P	+	2	0	PDIK1L	26321576	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.731000	0.68554	2.809000	0.96659	0.655000	0.94253	CCT	PDIK1L	-	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	ENSG00000175087		0.383	PDIK1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDIK1L	HGNC	protein_coding	OTTHUMT00000019752.1	32	0.00	0	C	NM_152835		26448989	26448989	+1	no_errors	ENST00000374269	ensembl	human	known	69_37n	missense	28	28.21	11	SNP	1.000	G
PDS5A	23244	genome.wustl.edu	37	4	39865035	39865035	+	Missense_Mutation	SNP	A	A	T			TCGA-EW-A1PA-01A-11D-A142-09	TCGA-EW-A1PA-10A-01D-A142-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	56c8aca4-b3bd-4791-b05d-0b2338b6346d	278dc7a3-0378-4bdc-98b7-436bf0a2ab6e	g.chr4:39865035A>T	ENST00000303538.8	-	24	3226	c.2687T>A	c.(2686-2688)aTa>aAa	p.I896K		NM_001100399.1	NP_001093869.1			PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)											breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						AAGCTTCATTATGGCACTACC	0.328																																						dbGAP											0													81.0	78.0	79.0					4																	39865035		1872	4111	5983	-	-	-	SO:0001583	missense	0			AF294791	CCDS47045.1, CCDS54759.1	4p14	2007-06-20			ENSG00000121892	ENSG00000121892			29088	protein-coding gene	gene with protein product		613200				11076961, 15855230	Standard	NM_001100399		Approved	KIAA0648, PIG54, SCC-112	uc003guv.4	Q29RF7	OTTHUMG00000160582	ENST00000303538.8:c.2687T>A	4.37:g.39865035A>T	ENSP00000303427:p.Ile896Lys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	superfamily_ARM-type_fold	p.I896K	ENST00000303538.8	37	c.2687	CCDS47045.1	4	.	.	.	.	.	.	.	.	.	.	A	29.9	5.047338	0.93740	.	.	ENSG00000121892	ENST00000303538	T	0.69685	-0.42	5.21	5.21	0.72293	Armadillo-like helical (1);	0.000000	0.85682	D	0.000000	T	0.76990	0.4065	L	0.54323	1.7	0.80722	D	1	D	0.63046	0.992	D	0.69142	0.962	T	0.76572	-0.2910	9	.	.	.	-19.2166	15.074	0.72063	1.0:0.0:0.0:0.0	.	896	Q29RF7	PDS5A_HUMAN	K	896	ENSP00000303427:I896K	.	I	-	2	0	PDS5A	39541430	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.300000	0.96151	1.969000	0.57287	0.533000	0.62120	ATA	PDS5A	-	superfamily_ARM-type_fold	ENSG00000121892		0.328	PDS5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDS5A	HGNC	protein_coding	OTTHUMT00000361287.1	47	0.00	0	A	NM_015200		39865035	39865035	-1	no_errors	ENST00000303538	ensembl	human	known	69_37n	missense	42	17.65	9	SNP	1.000	T
PLEKHG1	57480	genome.wustl.edu	37	6	151151728	151151731	+	Frame_Shift_Del	DEL	AGGA	AGGA	-	rs140433202	byFrequency	TCGA-EW-A1PA-01A-11D-A142-09	TCGA-EW-A1PA-10A-01D-A142-09	AGGA	AGGA					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	56c8aca4-b3bd-4791-b05d-0b2338b6346d	278dc7a3-0378-4bdc-98b7-436bf0a2ab6e	g.chr6:151151728_151151731delAGGA	ENST00000358517.2	+	15	1692_1695	c.1481_1484delAGGA	c.(1480-1485)gaggaafs	p.EE494fs	PLEKHG1_ENST00000367328.1_Frame_Shift_Del_p.EE494fs			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	494							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		GTTTCTAGAGAGGAAGGATCTCCC	0.5																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB033035	CCDS34552.1	6q25.1	2013-01-11			ENSG00000120278	ENSG00000120278		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20884	protein-coding gene	gene with protein product						10574462	Standard	XM_005267064		Approved	KIAA1209, ARHGEF41	uc003qny.1	Q9ULL1	OTTHUMG00000015824	ENST00000358517.2:c.1481_1484delAGGA	6.37:g.151151732_151151735delAGGA	ENSP00000351318:p.Glu494fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T1F2	Frame_Shift_Del	DEL	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.E495fs	ENST00000358517.2	37	c.1481_1484	CCDS34552.1	6																																																																																			PLEKHG1	-	NULL	ENSG00000120278		0.500	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHG1	HGNC	protein_coding	OTTHUMT00000042691.1	34	0.00	0	AGGA			151151728	151151731	+1	no_errors	ENST00000358517	ensembl	human	known	69_37n	frame_shift_del	11	35.29	6	DEL	0.999:0.720:0.870:0.852	-
PRCD	768206	genome.wustl.edu	37	17	74538648	74538648	+	Silent	SNP	C	C	T			TCGA-EW-A1PA-01A-11D-A142-09	TCGA-EW-A1PA-10A-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	56c8aca4-b3bd-4791-b05d-0b2338b6346d	278dc7a3-0378-4bdc-98b7-436bf0a2ab6e	g.chr17:74538648C>T	ENST00000586148.1	+	3	209	c.157C>T	c.(157-159)Ctg>Ttg	p.L53L	PRCD_ENST00000592014.1_Silent_p.L53L|PRCD_ENST00000592432.1_3'UTR|CYGB_ENST00000589145.1_Intron			Q00LT1	PRCD_HUMAN	progressive rod-cone degeneration	53					response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)											GAAAGAACCTCTGAAGTAAGC	0.602																																						dbGAP											0													84.0	85.0	84.0					17																	74538648		1952	4143	6095	-	-	-	SO:0001819	synonymous_variant	0			DQ390338	CCDS42382.1	17q25.1	2008-10-24			ENSG00000214140	ENSG00000214140			32528	protein-coding gene	gene with protein product		610598				16938425	Standard	NM_001077620		Approved	RP36	uc002jrw.1	Q00LT1	OTTHUMG00000132200	ENST00000586148.1:c.157C>T	17.37:g.74538648C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B9EJD4	Silent	SNP	NULL	p.L53	ENST00000586148.1	37	c.157	CCDS42382.1	17																																																																																			PRCD	-	NULL	ENSG00000214140		0.602	PRCD-008	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|CCDS	protein_coding	PRCD	HGNC	protein_coding	OTTHUMT00000450598.1	31	0.00	0	C			74538648	74538648	+1	no_errors	ENST00000586148	ensembl	human	known	69_37n	silent	28	20.00	7	SNP	0.998	T
PRDM9	56979	genome.wustl.edu	37	5	23527272	23527272	+	Missense_Mutation	SNP	A	A	G			TCGA-EW-A1PA-01A-11D-A142-09	TCGA-EW-A1PA-10A-01D-A142-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	56c8aca4-b3bd-4791-b05d-0b2338b6346d	278dc7a3-0378-4bdc-98b7-436bf0a2ab6e	g.chr5:23527272A>G	ENST00000296682.3	+	11	2257	c.2075A>G	c.(2074-2076)tAt>tGt	p.Y692C		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	692					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GAGAAGCCCTATGTCTGCAGG	0.602										HNSCC(3;0.000094)																												dbGAP											0													11.0	8.0	9.0					5																	23527272		1604	3269	4873	-	-	-	SO:0001583	missense	0			AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.2075A>G	5.37:g.23527272A>G	ENSP00000296682:p.Tyr692Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DX22|Q27Q50	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_SSXRD_motif,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel	p.Y692C	ENST00000296682.3	37	c.2075	CCDS43307.1	5	.	.	.	.	.	.	.	.	.	.	A	10.79	1.448502	0.26074	.	.	ENSG00000164256	ENST00000296682	T	0.25414	1.8	2.65	1.42	0.22433	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.33235	N	0.005139	T	0.46249	0.1383	M	0.84156	2.68	0.27057	N	0.963645	D	0.76494	0.999	D	0.81914	0.995	T	0.28839	-1.0031	10	0.87932	D	0	-13.5207	5.3678	0.16123	0.5303:0.0:0.0:0.4696	.	692	Q9NQV7	PRDM9_HUMAN	C	692	ENSP00000296682:Y692C	ENSP00000296682:Y692C	Y	+	2	0	PRDM9	23563029	0.000000	0.05858	0.865000	0.33974	0.514000	0.34195	-1.041000	0.03542	0.394000	0.25230	0.413000	0.27773	TAT	PRDM9	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000164256		0.602	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDM9	HGNC	protein_coding	OTTHUMT00000366375.1	27	0.00	0	A	NM_020227		23527272	23527272	+1	no_errors	ENST00000296682	ensembl	human	known	69_37n	missense	16	36.00	9	SNP	0.522	G
PTPRT	11122	genome.wustl.edu	37	20	41100907	41100907	+	Splice_Site	SNP	G	G	A			TCGA-EW-A1PA-01A-11D-A142-09	TCGA-EW-A1PA-10A-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	56c8aca4-b3bd-4791-b05d-0b2338b6346d	278dc7a3-0378-4bdc-98b7-436bf0a2ab6e	g.chr20:41100907G>A	ENST00000373187.1	-	8	1448	c.1449C>T	c.(1447-1449)gaC>gaT	p.D483D	PTPRT_ENST00000373201.1_Splice_Site_p.D483D|PTPRT_ENST00000356100.2_Splice_Site_p.D483D|PTPRT_ENST00000373184.1_Splice_Site_p.D483D|PTPRT_ENST00000373198.4_Splice_Site_p.D483D|PTPRT_ENST00000373193.3_Splice_Site_p.D483D|PTPRT_ENST00000373190.1_Splice_Site_p.D483D			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	483	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CTTGCTCACCGTCTTCCTCAG	0.532																																						dbGAP											0													54.0	57.0	56.0					20																	41100907		2076	4196	6272	-	-	-	SO:0001630	splice_region_variant	0			AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.1450+1C>T	20.37:g.41100907G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.D483	ENST00000373187.1	37	c.1449	CCDS42874.1	20																																																																																			PTPRT	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000196090		0.532	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRT	HGNC	protein_coding	OTTHUMT00000080315.1	25	0.00	0	G		Silent	41100907	41100907	-1	no_errors	ENST00000373198	ensembl	human	known	69_37n	silent	30	25.00	10	SNP	0.908	A
RBM47	54502	genome.wustl.edu	37	4	40440362	40440362	+	Silent	SNP	G	G	C			TCGA-EW-A1PA-01A-11D-A142-09	TCGA-EW-A1PA-10A-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	56c8aca4-b3bd-4791-b05d-0b2338b6346d	278dc7a3-0378-4bdc-98b7-436bf0a2ab6e	g.chr4:40440362G>C	ENST00000381793.2	-	3	945	c.549C>G	c.(547-549)gtC>gtG	p.V183V	RBM47_ENST00000515809.1_Intron|RBM47_ENST00000381795.6_Silent_p.V183V|RBM47_ENST00000295971.7_Silent_p.V183V|RBM47_ENST00000514014.1_Silent_p.V145V|RBM47_ENST00000319592.4_Silent_p.V183V			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	183	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				hematopoietic progenitor cell differentiation (GO:0002244)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						CGCTGGCGTAGACGATCACGT	0.637																																						dbGAP											0													66.0	59.0	61.0					4																	40440362		2202	4299	6501	-	-	-	SO:0001819	synonymous_variant	0			AK000280	CCDS3460.1, CCDS43223.1	4p14	2013-02-12			ENSG00000163694	ENSG00000163694		"""RNA binding motif (RRM) containing"""	30358	protein-coding gene	gene with protein product							Standard	NM_019027		Approved	FLJ20273, NET18	uc003gvc.2	A0AV96	OTTHUMG00000128598	ENST00000381793.2:c.549C>G	4.37:g.40440362G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJK2|B5MED4|Q8NI52|Q8NI53|Q9NXG3	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac	p.V183	ENST00000381793.2	37	c.549	CCDS43223.1	4																																																																																			RBM47	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac	ENSG00000163694		0.637	RBM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM47	HGNC	protein_coding	OTTHUMT00000250456.2	11	0.00	0	G	NM_019027		40440362	40440362	-1	no_errors	ENST00000295971	ensembl	human	known	69_37n	silent	4	60.00	6	SNP	0.301	C
RPTOR	57521	genome.wustl.edu	37	17	78831617	78831617	+	Missense_Mutation	SNP	G	G	T	rs199793733		TCGA-EW-A1PA-01A-11D-A142-09	TCGA-EW-A1PA-10A-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	56c8aca4-b3bd-4791-b05d-0b2338b6346d	278dc7a3-0378-4bdc-98b7-436bf0a2ab6e	g.chr17:78831617G>T	ENST00000306801.3	+	13	1788	c.1426G>T	c.(1426-1428)Gtg>Ttg	p.V476L	RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000544334.2_Missense_Mutation_p.V476L|RPTOR_ENST00000537330.1_Missense_Mutation_p.V291L	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	476					cell cycle arrest (GO:0007050)|cell growth (GO:0016049)|cellular response to amino acid stimulus (GO:0071230)|cellular response to nutrient levels (GO:0031669)|insulin receptor signaling pathway (GO:0008286)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|regulation of cell size (GO:0008361)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|TORC1 complex (GO:0031931)	14-3-3 protein binding (GO:0071889)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						CTTCCCCTACGTGCTGAAGCT	0.667																																						dbGAP											0													70.0	63.0	65.0					17																	78831617		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS11773.1, CCDS54175.1	17q25.3	2013-01-10				ENSG00000141564		"""WD repeat domain containing"""	30287	protein-coding gene	gene with protein product	"""regulatory associated protein of mTOR"""	607130				10718198, 12150926	Standard	NM_001163034		Approved	KOG1, Mip1, KIAA1303, raptor	uc002jyt.1	Q8N122		ENST00000306801.3:c.1426G>T	17.37:g.78831617G>T	ENSP00000307272:p.Val476Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RN36|C6KEF2|F5H7J5|Q8N4V9|Q8TB32|Q9P2P3	Missense_Mutation	SNP	pfam_HEAT,pfam_WD40_repeat,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom,prints_Raptor	p.V476L	ENST00000306801.3	37	c.1426	CCDS11773.1	17	.	.	.	.	.	.	.	.	.	.	G	34	5.393490	0.96009	.	.	ENSG00000141564	ENST00000537330;ENST00000306801;ENST00000544334	T;T;T	0.16073	2.37;2.37;2.37	5.19	5.19	0.71726	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000004	T	0.42810	0.1219	M	0.75777	2.31	0.80722	D	1	D;P;D	0.76494	0.959;0.947;0.999	D;P;D	0.68621	0.959;0.491;0.947	T	0.20571	-1.0271	10	0.37606	T	0.19	.	18.7278	0.91720	0.0:0.0:1.0:0.0	.	476;291;476	F5H7J5;F5GXV9;Q8N122	.;.;RPTOR_HUMAN	L	291;476;476	ENSP00000440947:V291L;ENSP00000307272:V476L;ENSP00000442479:V476L	ENSP00000307272:V476L	V	+	1	0	RPTOR	76446212	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.119000	0.94362	2.425000	0.82216	0.591000	0.81541	GTG	RPTOR	-	superfamily_ARM-type_fold,prints_Raptor	ENSG00000141564		0.667	RPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPTOR	HGNC	protein_coding	OTTHUMT00000438125.1	31	0.00	0	G	NM_020761		78831617	78831617	+1	no_errors	ENST00000306801	ensembl	human	known	69_37n	missense	20	16.67	4	SNP	1.000	T
RPUSD2	27079	genome.wustl.edu	37	15	40861751	40861751	+	Missense_Mutation	SNP	C	C	T			TCGA-EW-A1PA-01A-11D-A142-09	TCGA-EW-A1PA-10A-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	56c8aca4-b3bd-4791-b05d-0b2338b6346d	278dc7a3-0378-4bdc-98b7-436bf0a2ab6e	g.chr15:40861751C>T	ENST00000315616.7	+	1	253	c.215C>T	c.(214-216)cCg>cTg	p.P72L	RPUSD2_ENST00000559271.1_Missense_Mutation_p.P72L	NM_152260.1	NP_689473.1	Q8IZ73	RUSD2_HUMAN	RNA pseudouridylate synthase domain containing 2	72					pseudouridine synthesis (GO:0001522)		poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)			kidney(4)|lung(4)|skin(3)	11		all_cancers(109;2.74e-14)|all_epithelial(112;1.64e-11)|Lung NSC(122;6.69e-09)|all_lung(180;1.22e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3.1e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0786)		CCCGGGCCCCCGAAGCCGGCT	0.706																																						dbGAP											0													11.0	12.0	12.0					15																	40861751		2201	4286	6487	-	-	-	SO:0001583	missense	0			AK055971	CCDS10061.1, CCDS66737.1	15q13.3	2013-02-11	2005-01-31	2005-02-07	ENSG00000166133	ENSG00000166133		"""RNA pseudouridylate synthase domain containing"""	24180	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 19"""	C15orf19		12477932	Standard	NM_001286407		Approved	C18B11, FLJ31409	uc001zmd.1	Q8IZ73	OTTHUMG00000130031	ENST00000315616.7:c.215C>T	15.37:g.40861751C>T	ENSP00000323288:p.Pro72Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DDD1|Q7L989|Q92939|Q96IA7|Q96N50	Missense_Mutation	SNP	pfam_PsdUridine_synth_RsuA/RluD,superfamily_PsdUridine_synth_cat_dom,tigrfam_PsdUridine_synth_RluC/D	p.P72L	ENST00000315616.7	37	c.215	CCDS10061.1	15	.	.	.	.	.	.	.	.	.	.	C	15.23	2.771525	0.49680	.	.	ENSG00000166133	ENST00000315616;ENST00000417769	T	0.30714	1.52	5.39	-2.85	0.05734	.	1.527420	0.03776	N	0.260629	T	0.20820	0.0501	L	0.29908	0.895	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.30119	-0.9989	10	0.56958	D	0.05	-0.8131	4.1322	0.10154	0.0986:0.2833:0.4182:0.1999	.	72	Q8IZ73	RUSD2_HUMAN	L	72	ENSP00000323288:P72L	ENSP00000323288:P72L	P	+	2	0	RPUSD2	38649043	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.269000	0.08596	-0.387000	0.07809	0.650000	0.86243	CCG	RPUSD2	-	NULL	ENSG00000166133		0.706	RPUSD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RPUSD2	HGNC	protein_coding	OTTHUMT00000252308.2	10	0.00	0	C	NM_152260		40861751	40861751	+1	no_errors	ENST00000315616	ensembl	human	known	69_37n	missense	4	50.00	4	SNP	0.000	T
SEPT1	1731	genome.wustl.edu	37	16	30393112	30393112	+	Missense_Mutation	SNP	C	C	T			TCGA-EW-A1PA-01A-11D-A142-09	TCGA-EW-A1PA-10A-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	56c8aca4-b3bd-4791-b05d-0b2338b6346d	278dc7a3-0378-4bdc-98b7-436bf0a2ab6e	g.chr16:30393112C>T	ENST00000571393.1	-	5	460	c.274G>A	c.(274-276)Ggc>Agc	p.G92S	SEPT1_ENST00000605106.1_Missense_Mutation_p.G97S|SEPT1_ENST00000321367.3_Missense_Mutation_p.G139S|SEPT1_ENST00000570039.1_5'Flank			Q8WYJ6	SEPT1_HUMAN	septin 1	92	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)			breast(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)|urinary_tract(1)	24			Colorectal(24;0.193)			TCCCCAAAGCCAGGTGTGTCC	0.582																																						dbGAP											0													135.0	118.0	123.0					16																	30393112		2197	4300	6497	-	-	-	SO:0001583	missense	0			AF308288	CCDS10678.1, CCDS10678.2, CCDS10678.3	16p11.2	2013-01-21		2001-09-10	ENSG00000180096	ENSG00000180096	3.1.5.1	"""Septins"""	2879	protein-coding gene	gene with protein product		612897		DIFF6		8697812	Standard	NM_052838		Approved	PNUTL3	uc002dxy.4	Q8WYJ6	OTTHUMG00000176984	ENST00000571393.1:c.274G>A	16.37:g.30393112C>T	ENSP00000460441:p.Gly92Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DVE6|Q658T1|Q8NEZ1|Q96EL4|Q9H285	Missense_Mutation	SNP	pfam_Cell_div_GTP-bd,pfam_Ribosome_biogen_GTPase_RsgA,pirsf_Septin	p.G97S	ENST00000571393.1	37	c.289		16	.	.	.	.	.	.	.	.	.	.	C	18.55	3.648939	0.67358	.	.	ENSG00000180096	ENST00000321367	.	.	.	5.06	4.09	0.47781	.	0.000000	0.56097	D	0.000029	D	0.86134	0.5860	H	0.94847	3.59	0.80722	D	1	D;D	0.76494	0.999;0.995	D;D	0.85130	0.997;0.985	D	0.90102	0.4185	9	0.87932	D	0	.	14.6582	0.68850	0.0:0.853:0.147:0.0	.	139;92	B4E0I4;Q8WYJ6	.;SEPT1_HUMAN	S	92	.	ENSP00000324511:G92S	G	-	1	0	SEPT1	30300613	1.000000	0.71417	1.000000	0.80357	0.664000	0.39144	7.773000	0.85462	1.240000	0.43803	0.655000	0.94253	GGC	SEPT1	-	pfam_Cell_div_GTP-bd,pfam_Ribosome_biogen_GTPase_RsgA,pirsf_Septin	ENSG00000180096		0.582	SEPT1-201	KNOWN	basic	protein_coding	SEPT1	HGNC	protein_coding		42	0.00	0	C	NM_052838		30393112	30393112	-1	no_errors	ENST00000321367	ensembl	human	known	69_37n	missense	32	28.89	13	SNP	1.000	T
SLC5A7	60482	genome.wustl.edu	37	2	108604643	108604643	+	Missense_Mutation	SNP	T	T	G			TCGA-EW-A1PA-01A-11D-A142-09	TCGA-EW-A1PA-10A-01D-A142-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	56c8aca4-b3bd-4791-b05d-0b2338b6346d	278dc7a3-0378-4bdc-98b7-436bf0a2ab6e	g.chr2:108604643T>G	ENST00000264047.2	+	2	308	c.32T>G	c.(31-33)aTc>aGc	p.I11S	SLC5A7_ENST00000540517.1_Intron|SLC5A7_ENST00000409059.1_Missense_Mutation_p.I11S	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	11					acetylcholine biosynthetic process (GO:0008292)|cell death (GO:0008219)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	choline binding (GO:0033265)|choline transmembrane transporter activity (GO:0015220)|choline:sodium symporter activity (GO:0005307)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	CTGATAGCTATCATCGTGTTC	0.438																																						dbGAP											0													153.0	143.0	146.0					2																	108604643		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF276871	CCDS2074.1	2q12	2013-07-19	2013-07-19		ENSG00000115665	ENSG00000115665		"""Solute carriers"""	14025	protein-coding gene	gene with protein product		608761	"""solute carrier family 5 (choline transporter), member 7"""			11027560	Standard	NM_021815		Approved	hCHT, CHT1	uc002tdv.3	Q9GZV3	OTTHUMG00000130959	ENST00000264047.2:c.32T>G	2.37:g.108604643T>G	ENSP00000264047:p.Ile11Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53TF2	Missense_Mutation	SNP	pfam_Na/solute_symporter,pfscan_Na/solute_symporter	p.I11S	ENST00000264047.2	37	c.32	CCDS2074.1	2	.	.	.	.	.	.	.	.	.	.	T	24.5	4.538740	0.85917	.	.	ENSG00000115665	ENST00000409059;ENST00000264047	D;D	0.92858	-3.12;-3.12	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.93602	0.7957	M	0.80508	2.5	0.80722	D	1	P	0.51933	0.949	P	0.47162	0.54	D	0.94456	0.7672	10	0.87932	D	0	-2.5308	16.17	0.81801	0.0:0.0:0.0:1.0	.	11	Q9GZV3	SC5A7_HUMAN	S	11	ENSP00000387346:I11S;ENSP00000264047:I11S	ENSP00000264047:I11S	I	+	2	0	SLC5A7	107971075	1.000000	0.71417	0.999000	0.59377	0.975000	0.68041	7.655000	0.83696	2.279000	0.76181	0.533000	0.62120	ATC	SLC5A7	-	pfscan_Na/solute_symporter	ENSG00000115665		0.438	SLC5A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A7	HGNC	protein_coding	OTTHUMT00000253562.1	67	0.00	0	T			108604643	108604643	+1	no_errors	ENST00000264047	ensembl	human	known	69_37n	missense	36	28.00	14	SNP	1.000	G
SLC6A5	9152	genome.wustl.edu	37	11	20676318	20676318	+	Silent	SNP	C	C	G	rs534286800		TCGA-EW-A1PA-01A-11D-A142-09	TCGA-EW-A1PA-10A-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	56c8aca4-b3bd-4791-b05d-0b2338b6346d	278dc7a3-0378-4bdc-98b7-436bf0a2ab6e	g.chr11:20676318C>G	ENST00000525748.1	+	16	2571	c.2298C>G	c.(2296-2298)cgC>cgG	p.R766R	SLC6A5_ENST00000528440.1_3'UTR	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	766					glycine import (GO:0036233)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	CTCAACACCGCGGGGAGCGTT	0.542																																						dbGAP											0													149.0	141.0	143.0					11																	20676318		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF085412	CCDS7854.1	11p15.1	2013-07-19	2013-07-19		ENSG00000165970	ENSG00000165970		"""Solute carriers"""	11051	protein-coding gene	gene with protein product	"""glycine transporter 2"""	604159	"""solute carrier family 6 (neurotransmitter transporter, glycine), member 5"""	NET1		9845349	Standard	NM_004211		Approved	GLYT2	uc001mqd.3	Q9Y345	OTTHUMG00000166024	ENST00000525748.1:c.2298C>G	11.37:g.20676318C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	O95288|Q4VAM7|Q9BX77	Silent	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport	p.R766	ENST00000525748.1	37	c.2298	CCDS7854.1	11																																																																																			SLC6A5	-	NULL	ENSG00000165970		0.542	SLC6A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A5	HGNC	protein_coding	OTTHUMT00000387497.2	29	0.00	0	C	NM_004211		20676318	20676318	+1	no_errors	ENST00000525748	ensembl	human	known	69_37n	silent	17	26.09	6	SNP	0.542	G
TAS2R13	50838	genome.wustl.edu	37	12	11061465	11061465	+	Missense_Mutation	SNP	G	G	C			TCGA-EW-A1PA-01A-11D-A142-09	TCGA-EW-A1PA-10A-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	56c8aca4-b3bd-4791-b05d-0b2338b6346d	278dc7a3-0378-4bdc-98b7-436bf0a2ab6e	g.chr12:11061465G>C	ENST00000390677.2	-	1	696	c.433C>G	c.(433-435)Ctg>Gtg	p.L145V	PRR4_ENST00000536668.1_Intron	NM_023920.2	NP_076409.1	Q9NYV9	T2R13_HUMAN	taste receptor, type 2, member 13	145					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|positive regulation of cytokinesis (GO:0032467)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						ATTTGTATCAGATTTAAAAAT	0.358																																						dbGAP											0													64.0	68.0	67.0					12																	11061465		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF227137	CCDS8635.1	12p13	2012-08-22			ENSG00000212128	ENSG00000212128		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14919	protein-coding gene	gene with protein product		604792				10761934, 10766242	Standard	NM_023920		Approved	T2R13, TRB3	uc001qzg.1	Q9NYV9		ENST00000390677.2:c.433C>G	12.37:g.11061465G>C	ENSP00000375095:p.Leu145Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4G0I5|Q502V8|Q645X2	Missense_Mutation	SNP	pfam_TAS2_rcpt	p.L145V	ENST00000390677.2	37	c.433	CCDS8635.1	12	.	.	.	.	.	.	.	.	.	.	G	6.049	0.377291	0.11466	.	.	ENSG00000212128	ENST00000390677	T	0.00753	5.74	3.3	-6.6	0.01824	.	0.627824	0.12825	U	0.436062	T	0.00906	0.0030	L	0.49640	1.575	0.09310	N	1	P	0.41214	0.742	P	0.45406	0.479	T	0.05305	-1.0893	10	0.48119	T	0.1	.	2.6846	0.05104	0.1031:0.3679:0.1591:0.3699	.	145	Q9NYV9	T2R13_HUMAN	V	145	ENSP00000375095:L145V	ENSP00000375095:L145V	L	-	1	2	TAS2R13	10952732	0.000000	0.05858	0.000000	0.03702	0.061000	0.15899	-1.747000	0.01827	-2.478000	0.00525	-0.175000	0.13238	CTG	TAS2R13	-	pfam_TAS2_rcpt	ENSG00000212128		0.358	TAS2R13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R13	HGNC	protein_coding	OTTHUMT00000400229.1	48	0.00	0	G			11061465	11061465	-1	no_errors	ENST00000390677	ensembl	human	known	69_37n	missense	27	37.21	16	SNP	0.000	C
THEM5	284486	genome.wustl.edu	37	1	151819737	151819738	+	Intron	DEL	GG	GG	-			TCGA-EW-A1PA-01A-11D-A142-09	TCGA-EW-A1PA-10A-01D-A142-09	GG	GG					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	56c8aca4-b3bd-4791-b05d-0b2338b6346d	278dc7a3-0378-4bdc-98b7-436bf0a2ab6e	g.chr1:151819737_151819738delGG	ENST00000368817.5	-	6	984				AL450992.2_ENST00000434182.1_RNA	NM_182578.3	NP_872384	Q8N1Q8	ACO15_HUMAN	thioesterase superfamily member 5						cardiolipin acyl-chain remodeling (GO:0035965)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)	mitochondrial matrix (GO:0005759)	palmitoyl-CoA hydrolase activity (GO:0016290)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			gaggcaggcaggggaggcagga	0.713																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AK095283	CCDS1005.1	1q21.3	2008-02-05			ENSG00000196407	ENSG00000196407			26755	protein-coding gene	gene with protein product		615653					Standard	NM_182578		Approved	FLJ37964	uc021oyw.1	Q8N1Q8	OTTHUMG00000013070	ENST00000368817.5:c.741+1CC>-	1.37:g.151819739_151819740delGG		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T1C3	Frame_Shift_Del	DEL	pfam_Thioestr_supf	p.P214fs	ENST00000368817.5	37	c.642_641	CCDS1005.1	1																																																																																			THEM5	-	NULL	ENSG00000196407		0.713	THEM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THEM5	HGNC	protein_coding	OTTHUMT00000036678.2	9	0.00	0	GG	NM_182578		151819737	151819738	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000453881	ensembl	human	known	69_37n	frame_shift_del	6	33.33	3	DEL	0.878:0.888	-
TP53	7157	genome.wustl.edu	37	17	7578212	7578212	+	Nonsense_Mutation	SNP	G	G	A	rs397516436		TCGA-EW-A1PA-01A-11D-A142-09	TCGA-EW-A1PA-10A-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	56c8aca4-b3bd-4791-b05d-0b2338b6346d	278dc7a3-0378-4bdc-98b7-436bf0a2ab6e	g.chr17:7578212G>A	ENST00000269305.4	-	6	826	c.637C>T	c.(637-639)Cga>Tga	p.R213*	TP53_ENST00000413465.2_Nonsense_Mutation_p.R213*|TP53_ENST00000420246.2_Nonsense_Mutation_p.R213*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R213*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R213*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R213*|TP53_ENST00000574684.1_Intron	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	213	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (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.R213*(250)|p.R81*(21)|p.R120*(21)|p.0?(8)|p.?(5)|p.R213G(5)|p.R213fs*35(3)|p.R213fs*34(3)|p.D208_V216delDRNTFRHSV(1)|p.R120G(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.R120fs*35(1)|p.R81G(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(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)	ACACTATGTCGAAAAGTGTTT	0.532		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"""	333	Substitution - Nonsense(292)|Deletion - Frameshift(8)|Whole gene deletion(8)|Substitution - Missense(8)|Deletion - In frame(5)|Insertion - Frameshift(5)|Unknown(5)|Complex - deletion inframe(1)|Substitution - coding silent(1)	large_intestine(89)|breast(45)|lung(37)|upper_aerodigestive_tract(30)|central_nervous_system(18)|skin(16)|oesophagus(15)|stomach(14)|ovary(14)|haematopoietic_and_lymphoid_tissue(10)|urinary_tract(9)|biliary_tract(8)|liver(8)|soft_tissue(5)|endometrium(5)|bone(4)|prostate(3)|thyroid(1)|pancreas(1)|autonomic_ganglia(1)	GRCh37	CM951226	TP53	M							132.0	118.0	123.0					17																	7578212		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.637C>T	17.37:g.7578212G>A	ENSP00000269305:p.Arg213*	Somatic		WXS	Illumina GAIIx	Phase_IV	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.R213*	ENST00000269305.4	37	c.637	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	37	6.039727	0.97226	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.28	3.25	0.37280	.	0.057335	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.5444	12.7263	0.57173	0.0:0.0:0.701:0.299	.	.	.	.	X	213;213;213;213;213;213;202;120;81;120;81	.	ENSP00000269305:R213X	R	-	1	2	TP53	7518937	0.971000	0.33674	0.123000	0.21794	0.957000	0.61999	1.659000	0.37387	0.702000	0.31825	0.563000	0.77884	CGA	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.532	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	61	0.00	0	G	NM_000546		7578212	7578212	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	nonsense	21	45.00	18	SNP	0.893	A
TSC1	7248	genome.wustl.edu	37	9	135772703	135772703	+	Missense_Mutation	SNP	T	T	A			TCGA-EW-A1PA-01A-11D-A142-09	TCGA-EW-A1PA-10A-01D-A142-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	56c8aca4-b3bd-4791-b05d-0b2338b6346d	278dc7a3-0378-4bdc-98b7-436bf0a2ab6e	g.chr9:135772703T>A	ENST00000298552.3	-	22	3064	c.2843A>T	c.(2842-2844)tAt>tTt	p.Y948F	TSC1_ENST00000440111.2_Missense_Mutation_p.Y948F|TSC1_ENST00000545250.1_Missense_Mutation_p.Y897F	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	948					activation of Rho GTPase activity (GO:0032862)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|insulin receptor signaling pathway (GO:0008286)|kidney development (GO:0001822)|myelination (GO:0042552)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of translation (GO:0017148)|neural tube closure (GO:0001843)|positive regulation of focal adhesion assembly (GO:0051894)|potassium ion transport (GO:0006813)|protein heterooligomerization (GO:0051291)|protein stabilization (GO:0050821)|regulation of cell cycle (GO:0051726)|regulation of cell-matrix adhesion (GO:0001952)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of protein kinase activity (GO:0045859)|regulation of stress fiber assembly (GO:0051492)|regulation of translation (GO:0006417)|response to insulin (GO:0032868)|rRNA export from nucleus (GO:0006407)|synapse organization (GO:0050808)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|lamellipodium (GO:0030027)|membrane (GO:0016020)|protein complex (GO:0043234)|TSC1-TSC2 complex (GO:0033596)	chaperone binding (GO:0051087)|GTPase regulator activity (GO:0030695)|protein N-terminus binding (GO:0047485)	p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		CTGAGCCTCATACCTGCTCTC	0.423			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																													dbGAP	yes	Rec		Tuberous sclerosis 1	9	9q34	7248	tuberous sclerosis 1 gene		"""E, O"""	1	Unknown(1)	bone(1)											106.0	110.0	109.0					9																	135772703		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AF013168	CCDS6956.1, CCDS55350.1	9q34	2014-09-17			ENSG00000165699	ENSG00000165699			12362	protein-coding gene	gene with protein product		605284		TSC		9242607, 10806479	Standard	NM_000368		Approved	KIAA0243, LAM, hamartin	uc004cca.2	Q92574	OTTHUMG00000020844	ENST00000298552.3:c.2843A>T	9.37:g.135772703T>A	ENSP00000298552:p.Tyr948Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z897|Q5VVN5	Missense_Mutation	SNP	pfam_Hamartin,superfamily_ARM-type_fold	p.Y948F	ENST00000298552.3	37	c.2843	CCDS6956.1	9	.	.	.	.	.	.	.	.	.	.	T	23.4	4.411602	0.83340	.	.	ENSG00000165699	ENST00000298552;ENST00000440111;ENST00000545250	D;D;D	0.86562	-2.14;-2.14;-1.97	5.61	5.61	0.85477	.	0.062767	0.64402	D	0.000003	D	0.91908	0.7438	M	0.74881	2.28	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.63033	0.91;0.91	D	0.90925	0.4786	10	0.32370	T	0.25	-13.3069	14.9826	0.71321	0.0:0.0:0.0:1.0	.	897;948	B7Z897;Q92574	.;TSC1_HUMAN	F	948;948;897	ENSP00000298552:Y948F;ENSP00000394524:Y948F;ENSP00000444017:Y897F	ENSP00000298552:Y948F	Y	-	2	0	TSC1	134762524	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.006000	0.63978	2.137000	0.66172	0.528000	0.53228	TAT	TSC1	-	NULL	ENSG00000165699		0.423	TSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSC1	HGNC	protein_coding	OTTHUMT00000054799.1	61	0.00	0	T			135772703	135772703	-1	no_errors	ENST00000298552	ensembl	human	known	69_37n	missense	49	30.99	22	SNP	1.000	A
ZFP36L2	678	genome.wustl.edu	37	2	43452474	43452474	+	Missense_Mutation	SNP	C	C	T			TCGA-EW-A1PA-01A-11D-A142-09	TCGA-EW-A1PA-10A-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	56c8aca4-b3bd-4791-b05d-0b2338b6346d	278dc7a3-0378-4bdc-98b7-436bf0a2ab6e	g.chr2:43452474C>T	ENST00000282388.3	-	2	762	c.469G>A	c.(469-471)Gag>Aag	p.E157K	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	157					cell proliferation (GO:0008283)|definitive hemopoiesis (GO:0060216)|hemopoiesis (GO:0030097)|mRNA catabolic process (GO:0006402)|negative regulation of stem cell differentiation (GO:2000737)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E157Q(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				CGGCACAGCTCGGTCTTGTAG	0.652																																						dbGAP											1	Substitution - Missense(1)	lung(1)											37.0	37.0	37.0					2																	43452474		2202	4300	6502	-	-	-	SO:0001583	missense	0			X78992	CCDS1811.1	2p22.3-p21	2012-11-27	2012-11-27	2001-11-23	ENSG00000152518	ENSG00000152518		"""RING-type (C3HC4) zinc fingers"""	1108	protein-coding gene	gene with protein product		612053	"""zinc finger protein 36, C3H type-like 1"", ""zinc finger protein 36, C3H type-like 2"""	BRF2		7835719, 8545129, 14981510, 17172869	Standard	NM_006887		Approved	ERF2, RNF162C, TIS11D	uc002rsv.4	P47974	OTTHUMG00000128642	ENST00000282388.3:c.469G>A	2.37:g.43452474C>T	ENSP00000282388:p.Glu157Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53TB4|Q9BSJ3	Missense_Mutation	SNP	pfam_Tis11B_N,pfam_Znf_CCCH,smart_Znf_CCCH	p.E157K	ENST00000282388.3	37	c.469	CCDS1811.1	2	.	.	.	.	.	.	.	.	.	.	C	34	5.374707	0.95923	.	.	ENSG00000152518	ENST00000282388	T	0.51325	0.71	4.76	4.76	0.60689	Zinc finger, CCCH-type (3);	0.063998	0.64402	D	0.000010	T	0.64962	0.2646	L	0.55017	1.72	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.68849	-0.5300	10	0.87932	D	0	-28.709	16.6213	0.84931	0.0:1.0:0.0:0.0	.	157	P47974	TISD_HUMAN	K	157	ENSP00000282388:E157K	ENSP00000282388:E157K	E	-	1	0	ZFP36L2	43305978	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.308000	0.78929	2.202000	0.70862	0.555000	0.69702	GAG	ZFP36L2	-	pfam_Znf_CCCH,smart_Znf_CCCH	ENSG00000152518		0.652	ZFP36L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP36L2	HGNC	protein_coding	OTTHUMT00000250513.2	18	0.00	0	C	NM_006887		43452474	43452474	-1	no_errors	ENST00000282388	ensembl	human	known	69_37n	missense	12	29.41	5	SNP	1.000	T
TTN	7273	genome.wustl.edu	37	2	179478997	179478997	+	Missense_Mutation	SNP	C	C	T			TCGA-EW-A1PA-01A-11D-A142-09	TCGA-EW-A1PA-10A-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	56c8aca4-b3bd-4791-b05d-0b2338b6346d	278dc7a3-0378-4bdc-98b7-436bf0a2ab6e	g.chr2:179478997C>T	ENST00000591111.1	-	212	44428	c.44204G>A	c.(44203-44205)cGc>cAc	p.R14735H	TTN_ENST00000342992.6_Missense_Mutation_p.R13808H|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R7503H|TTN-AS1_ENST00000589907.1_RNA|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R7436H|TTN_ENST00000460472.2_Missense_Mutation_p.R7311H|TTN_ENST00000589042.1_Missense_Mutation_p.R16376H|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA			Q8WZ42	TITIN_HUMAN	titin	14735	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACCATCATCGCGTGGTGGGTT	0.468																																						dbGAP											0													103.0	95.0	97.0					2																	179478997		1992	4191	6183	-	-	-	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.44204G>A	2.37:g.179478997C>T	ENSP00000465570:p.Arg14735His	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.R13808H	ENST00000591111.1	37	c.41423		2	.	.	.	.	.	.	.	.	.	.	C	16.67	3.187037	0.57909	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58060	0.36;0.36;0.36;0.36	5.77	5.77	0.91146	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.70185	0.3195	L	0.52266	1.64	0.58432	D	0.999995	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.70204	-0.4936	9	0.87932	D	0	.	20.3627	0.98863	0.0:1.0:0.0:0.0	.	7311;7436;7503;14735	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	13808;7311;7503;7436;7311	ENSP00000343764:R13808H;ENSP00000434586:R7311H;ENSP00000340554:R7503H;ENSP00000352154:R7436H	ENSP00000340554:R7503H	R	-	2	0	TTN	179187242	1.000000	0.71417	0.996000	0.52242	0.989000	0.77384	6.006000	0.70724	2.885000	0.99019	0.655000	0.94253	CGC	TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.468	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	49	0.00	0	C	NM_133378		179478997	179478997	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	20	23.08	6	SNP	1.000	T
