#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ANK1	286	genome.wustl.edu	37	8	41551422	41551422	+	Missense_Mutation	SNP	C	C	T			TCGA-A1-A0SQ-01A-21D-A142-09	TCGA-A1-A0SQ-10B-01W-A187-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9055ddce-a0ff-4980-af86-c07f949acbc3	88e47f34-a818-4ad9-ab74-66a1fe307ad4	g.chr8:41551422C>T	ENST00000347528.4	-	29	3609	c.3526G>A	c.(3526-3528)Gtc>Atc	p.V1176I	ANK1_ENST00000352337.4_Missense_Mutation_p.V1176I|ANK1_ENST00000396945.1_Missense_Mutation_p.V1176I|ANK1_ENST00000396942.1_Missense_Mutation_p.V1176I|ANK1_ENST00000265709.8_Missense_Mutation_p.V1217I|ANK1_ENST00000379758.2_Missense_Mutation_p.V1176I|ANK1_ENST00000289734.7_Missense_Mutation_p.V1176I	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1176	ZU5 2. {ECO:0000255|PROSITE- ProRule:PRU00485}.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.V1176I(1)|p.V1217I(1)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TCACCAATGACGCTGCAAAGC	0.647																																						dbGAP											2	Substitution - Missense(2)	endometrium(2)											27.0	25.0	26.0					8																	41551422		2203	4300	6503	-	-	-	SO:0001583	missense	0			M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.3526G>A	8.37:g.41551422C>T	ENSP00000339620:p.Val1176Ile		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt	p.V1176I	ENST00000347528.4	37	c.3526	CCDS6119.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.77|12.77	2.037257|2.037257	0.35893|0.35893	.|.	.|.	ENSG00000029534|ENSG00000029534	ENST00000520299|ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709;ENST00000358820	.|T;T;T;T;T;T;T	.|0.74737	.|-0.87;-0.87;-0.87;-0.87;-0.87;-0.87;-0.87	5.03|5.03	5.03|5.03	0.67393|0.67393	.|.	.|0.063718	.|0.64402	.|D	.|0.000008	T|T	0.55273|0.55273	0.1910|0.1910	N|N	0.02011|0.02011	-0.69|-0.69	0.80722|0.80722	D|D	1|1	.|D;D;B;B;D;B	.|0.54601	.|0.967;0.957;0.423;0.129;0.967;0.416	.|P;P;B;B;P;B	.|0.49799	.|0.622;0.454;0.029;0.014;0.622;0.008	T|T	0.60801|0.60801	-0.7191|-0.7191	5|10	.|0.02654	.|T	.|1	.|.	18.7318|18.7318	0.91738|0.91738	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1217;1176;1176;1176;1176;492	.|P16157-21;P16157-4;P16157;P16157-5;P16157-3;B3KX39	.|.;.;ANK1_HUMAN;.;.;.	H|I	497|1176;1176;1176;1176;1176;1176;1217;1176	.|ENSP00000339620:V1176I;ENSP00000289734:V1176I;ENSP00000369082:V1176I;ENSP00000380149:V1176I;ENSP00000380147:V1176I;ENSP00000309131:V1176I;ENSP00000265709:V1217I	.|ENSP00000265709:V1217I	R|V	-|-	2|1	0|0	ANK1|ANK1	41670579|41670579	0.999000|0.999000	0.42202|0.42202	0.998000|0.998000	0.56505|0.56505	0.943000|0.943000	0.58893|0.58893	4.075000|4.075000	0.57584|0.57584	2.493000|2.493000	0.84123|0.84123	0.313000|0.313000	0.20887|0.20887	CGT|GTC	ANK1	-	NULL	ENSG00000029534		0.647	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANK1	HGNC	protein_coding	OTTHUMT00000317297.1	14	0.00	0	C	NM_020475		41551422	41551422	-1	no_errors	ENST00000396942	ensembl	human	known	69_37n	missense	20	23.08	6	SNP	1.000	T
BCKDHA	593	genome.wustl.edu	37	19	41903744	41903744	+	Silent	SNP	G	G	A			TCGA-A1-A0SQ-01A-21D-A142-09	TCGA-A1-A0SQ-10B-01W-A187-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9055ddce-a0ff-4980-af86-c07f949acbc3	88e47f34-a818-4ad9-ab74-66a1fe307ad4	g.chr19:41903744G>A	ENST00000269980.2	+	1	380	c.12G>A	c.(10-12)gcG>gcA	p.A4A	BCKDHA_ENST00000457836.2_Silent_p.A4A|CTC-435M10.10_ENST00000598988.1_RNA|CTC-435M10.3_ENST00000604424.1_Intron|BCKDHA_ENST00000595085.1_Intron|CTC-435M10.3_ENST00000540732.1_Intron|EXOSC5_ENST00000221233.4_5'Flank|EXOSC5_ENST00000596905.1_5'Flank	NM_000709.3|NM_001164783.1	NP_000700.1|NP_001158255.1	P12694	ODBA_HUMAN	branched chain keto acid dehydrogenase E1, alpha polypeptide	4					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity (GO:0003863)|alpha-ketoacid dehydrogenase activity (GO:0003826)|carboxy-lyase activity (GO:0016831)|metal ion binding (GO:0046872)	p.A4A(1)		central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						TGGCGGTAGCGATCGCTGCAG	0.622																																						dbGAP											1	Substitution - coding silent(1)	lung(1)											41.0	38.0	39.0					19																	41903744		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			J04474	CCDS12581.1	19q13.1-q13.2	2008-07-09	2005-11-29		ENSG00000248098	ENSG00000248098			986	protein-coding gene	gene with protein product	"""maple syrup urine disease"""	608348	"""branched chain keto acid dehydrogenase E1, alpha polypeptide (maple syrup urine disease)"", ""2-oxoisovalerate dehydrogenase (lipoamide)"""	OVD1A			Standard	NM_000709		Approved	MSU	uc002oqq.3	P12694	OTTHUMG00000168128	ENST00000269980.2:c.12G>A	19.37:g.41903744G>A			B4DP47|E7EW46|Q16034|Q16472	Silent	SNP	pfam_DH_E1,pfam_Transketolase_N	p.A4	ENST00000269980.2	37	c.12	CCDS12581.1	19																																																																																			BCKDHA	-	NULL	ENSG00000248098		0.622	BCKDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCKDHA	HGNC	protein_coding	OTTHUMT00000398313.3	16	0.00	0	G	NM_000709		41903744	41903744	+1	no_errors	ENST00000269980	ensembl	human	known	69_37n	silent	13	77.05	47	SNP	0.101	A
BMX	660	genome.wustl.edu	37	X	15554529	15554529	+	Missense_Mutation	SNP	G	G	A			TCGA-A1-A0SQ-01A-21D-A142-09	TCGA-A1-A0SQ-10B-01W-A187-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9055ddce-a0ff-4980-af86-c07f949acbc3	88e47f34-a818-4ad9-ab74-66a1fe307ad4	g.chrX:15554529G>A	ENST00000357607.2	+	13	1389	c.1201G>A	c.(1201-1203)Gac>Aac	p.D401N	BMX_ENST00000348343.6_Missense_Mutation_p.D401N|BMX_ENST00000342014.6_Missense_Mutation_p.D401N			P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	401					apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)|signal transduction (GO:0007165)	cytosol (GO:0005829)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|signal transducer activity (GO:0004871)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					CAAGGTCCCCGACTCTGTGTC	0.408																																						dbGAP											0													151.0	123.0	132.0					X																	15554529		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF045459	CCDS14168.1	Xp22.2	2013-05-14			ENSG00000102010	ENSG00000102010		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	1079	protein-coding gene	gene with protein product	"""BTK-like on X chromosome"""	300101				7970727	Standard	NM_203281		Approved	ETK, PSCTK3	uc004cwx.4	P51813	OTTHUMG00000021180	ENST00000357607.2:c.1201G>A	X.37:g.15554529G>A	ENSP00000350224:p.Asp401Asn		A6NIH9|O60564|Q12871	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_Pleckstrin_homology,pfam_Znf_Btk_motif,superfamily_Kinase-like_dom,smart_Pleckstrin_homology,smart_Znf_Btk_motif,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_Znf_Btk_motif,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_Znf_Btk_motif,pfscan_Prot_kinase_cat_dom	p.D401N	ENST00000357607.2	37	c.1201	CCDS14168.1	X	.	.	.	.	.	.	.	.	.	.	g	5.048	0.194624	0.09599	.	.	ENSG00000102010	ENST00000357607;ENST00000348343;ENST00000342014	D;D;D	0.88975	-2.45;-2.45;-2.45	4.94	-0.125	0.13519	Protein kinase-like domain (1);	1.355510	0.04879	N	0.447326	T	0.73497	0.3594	N	0.08118	0	0.09310	N	1	B	0.12013	0.005	B	0.01281	0.0	T	0.60250	-0.7300	10	0.21014	T	0.42	.	1.3363	0.02145	0.2017:0.1429:0.4229:0.2324	.	401	P51813	BMX_HUMAN	N	401	ENSP00000350224:D401N;ENSP00000308774:D401N;ENSP00000340082:D401N	ENSP00000340082:D401N	D	+	1	0	BMX	15464450	0.000000	0.05858	0.000000	0.03702	0.143000	0.21401	-0.656000	0.05342	0.242000	0.21303	0.519000	0.50382	GAC	BMX	-	superfamily_Kinase-like_dom	ENSG00000102010		0.408	BMX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	BMX	HGNC	protein_coding	OTTHUMT00000055877.1	51	0.00	0	G	NM_001721		15554529	15554529	+1	no_errors	ENST00000342014	ensembl	human	known	69_37n	missense	19	38.71	12	SNP	0.000	A
CCDC106	29903	genome.wustl.edu	37	19	56160842	56160842	+	Silent	SNP	C	C	T			TCGA-A1-A0SQ-01A-21D-A142-09	TCGA-A1-A0SQ-10B-01W-A187-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9055ddce-a0ff-4980-af86-c07f949acbc3	88e47f34-a818-4ad9-ab74-66a1fe307ad4	g.chr19:56160842C>T	ENST00000586790.1	+	3	1109	c.205C>T	c.(205-207)Ctg>Ttg	p.L69L	CCDC106_ENST00000308964.3_Silent_p.L69L|CCDC106_ENST00000591241.1_Silent_p.L34L|CCDC106_ENST00000588740.1_Silent_p.L69L|CCDC106_ENST00000591578.1_Silent_p.L69L			Q9BWC9	CC106_HUMAN	coiled-coil domain containing 106	69						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				endometrium(2)|large_intestine(3)|lung(5)|skin(1)	11		Colorectal(82;0.00403)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		GCACATGGCTCTGGAGAGGAA	0.617																																						dbGAP											0													66.0	59.0	62.0					19																	56160842		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF054984	CCDS33118.1	19q13.42	2013-09-20			ENSG00000173581	ENSG00000173581			30181	protein-coding gene	gene with protein product		613478				8619474, 9110174	Standard	XM_005258827		Approved	HSU79303	uc002qlr.3	Q9BWC9	OTTHUMG00000180907	ENST00000586790.1:c.205C>T	19.37:g.56160842C>T			B3KUF9|D3K183|Q99786	Silent	SNP	NULL	p.L69	ENST00000586790.1	37	c.205	CCDS33118.1	19																																																																																			CCDC106	-	NULL	ENSG00000173581		0.617	CCDC106-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CCDC106	HGNC	protein_coding	OTTHUMT00000453593.1	76	0.00	0	C	NM_013301		56160842	56160842	+1	no_errors	ENST00000308964	ensembl	human	known	69_37n	silent	18	84.55	104	SNP	1.000	T
CGNL1	84952	genome.wustl.edu	37	15	57754042	57754042	+	Silent	SNP	T	T	C			TCGA-A1-A0SQ-01A-21D-A142-09	TCGA-A1-A0SQ-10B-01W-A187-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9055ddce-a0ff-4980-af86-c07f949acbc3	88e47f34-a818-4ad9-ab74-66a1fe307ad4	g.chr15:57754042T>C	ENST00000281282.5	+	8	2433	c.2355T>C	c.(2353-2355)taT>taC	p.Y785Y		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	785						myosin complex (GO:0016459)|tight junction (GO:0005923)	motor activity (GO:0003774)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		AGGAGCAATATGATGCTGAGT	0.527																																						dbGAP											0													102.0	97.0	99.0					15																	57754042		2192	4292	6484	-	-	-	SO:0001819	synonymous_variant	0			AY274808	CCDS10161.1	15q21.3	2011-06-10			ENSG00000128849	ENSG00000128849			25931	protein-coding gene	gene with protein product		607856				11214970	Standard	NM_001252335		Approved	FLJ14957, JACOP, KIAA1749, paracingulin	uc002aeg.3	Q0VF96	OTTHUMG00000166485	ENST00000281282.5:c.2355T>C	15.37:g.57754042T>C			Q05BZ4|Q52LR0|Q695C7|Q7Z2L3|Q96JV2|Q96MN6|Q9C0B4	Silent	SNP	pfam_Myosin_tail,prints_Tropomyosin	p.Y785	ENST00000281282.5	37	c.2355	CCDS10161.1	15																																																																																			CGNL1	-	NULL	ENSG00000128849		0.527	CGNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CGNL1	HGNC	protein_coding	OTTHUMT00000255482.2	140	0.00	0	T	NM_032866		57754042	57754042	+1	no_errors	ENST00000281282	ensembl	human	known	69_37n	silent	45	13.21	7	SNP	0.362	C
CROCCP2	84809	genome.wustl.edu	37	1	16945452	16945452	+	lincRNA	SNP	C	C	T	rs11260834	byFrequency	TCGA-A1-A0SQ-01A-21D-A142-09	TCGA-A1-A0SQ-10B-01W-A187-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9055ddce-a0ff-4980-af86-c07f949acbc3	88e47f34-a818-4ad9-ab74-66a1fe307ad4	g.chr1:16945452C>T	ENST00000412962.1	-	0	2067				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											CTCCCTACGACGGCAGGCCTA	0.647																																						dbGAP											0																																										-	-	-			0			AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16945452C>T			Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	-	NULL	ENST00000412962.1	37	NULL		1																																																																																			CROCCP2	-	-	ENSG00000215908		0.647	CROCCP2-003	KNOWN	basic	lincRNA	CROCCP2	HGNC	lincRNA	OTTHUMT00000092784.1	53	0.00	0	C	NR_026752.1		16945452	16945452	-1	no_errors	ENST00000412962	ensembl	human	known	69_37n	rna	58	14.71	10	SNP	0.000	T
DCAF8L1	139425	genome.wustl.edu	37	X	27998516	27998516	+	Missense_Mutation	SNP	G	G	C			TCGA-A1-A0SQ-01A-21D-A142-09	TCGA-A1-A0SQ-10B-01W-A187-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9055ddce-a0ff-4980-af86-c07f949acbc3	88e47f34-a818-4ad9-ab74-66a1fe307ad4	g.chrX:27998516G>C	ENST00000441525.1	-	1	1050	c.936C>G	c.(934-936)ttC>ttG	p.F312L		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	312										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						GGTCAATGGTGAACACAACGG	0.493																																						dbGAP											0													86.0	75.0	79.0					X																	27998516		2202	4300	6502	-	-	-	SO:0001583	missense	0				CCDS35222.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17	ENSG00000226372	ENSG00000226372		"""WD repeat domain containing"""	31810	protein-coding gene	gene with protein product			"""WD repeat domain 42B"""	WDR42B			Standard	NM_001017930		Approved		uc004dbx.1	A6NGE4	OTTHUMG00000021312	ENST00000441525.1:c.936C>G	X.37:g.27998516G>C	ENSP00000405222:p.Phe312Leu		B3KXX1	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.F312L	ENST00000441525.1	37	c.936	CCDS35222.1	X	.	.	.	.	.	.	.	.	.	.	G	11.37	1.618892	0.28801	.	.	ENSG00000226372	ENST00000441525	T	0.80393	-1.37	0.842	-0.269	0.12930	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.66137	0.2759	L	0.52364	1.645	0.42899	D	0.994228	B	0.33212	0.402	B	0.32393	0.145	T	0.52749	-0.8534	10	0.10902	T	0.67	-8.5888	5.0986	0.14747	0.2599:0.0:0.7401:0.0	.	312	A6NGE4	DC8L1_HUMAN	L	312	ENSP00000405222:F312L	ENSP00000405222:F312L	F	-	3	2	DCAF8L1	27908437	1.000000	0.71417	0.492000	0.27490	0.400000	0.30750	1.957000	0.40392	-0.168000	0.10853	0.284000	0.19432	TTC	DCAF8L1	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000226372		0.493	DCAF8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF8L1	HGNC	protein_coding	OTTHUMT00000056150.2	126	0.00	0	G	XM_066690		27998516	27998516	-1	no_errors	ENST00000441525	ensembl	human	known	69_37n	missense	47	40.51	32	SNP	1.000	C
ENAM	10117	genome.wustl.edu	37	4	71508638	71508638	+	Frame_Shift_Del	DEL	G	G	-	rs373241735		TCGA-A1-A0SQ-01A-21D-A142-09	TCGA-A1-A0SQ-10B-01W-A187-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9055ddce-a0ff-4980-af86-c07f949acbc3	88e47f34-a818-4ad9-ab74-66a1fe307ad4	g.chr4:71508638delG	ENST00000396073.3	+	9	1776	c.1495delG	c.(1495-1497)ggafs	p.G499fs	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	499					amelogenesis (GO:0097186)|biomineral tissue development (GO:0031214)	proteinaceous extracellular matrix (GO:0005578)				haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			TTACCCAAGAGGAGATTCCAG	0.378																																						dbGAP											0													41.0	42.0	41.0					4																	71508638		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF125373	CCDS3544.2	4q13.3	2008-02-05			ENSG00000132464	ENSG00000132464			3344	protein-coding gene	gene with protein product		606585	"""amelogenesis imperfecta 2, hypocalcification (autosomal dominant)"""	AIH2		11978766	Standard	NM_031889		Approved		uc011caw.1	Q9NRM1	OTTHUMG00000129914	ENST00000396073.3:c.1495delG	4.37:g.71508638delG	ENSP00000379383:p.Gly499fs		Q17RI5|Q9H3D1	Frame_Shift_Del	DEL	NULL	p.G499fs	ENST00000396073.3	37	c.1495	CCDS3544.2	4																																																																																			ENAM	-	NULL	ENSG00000132464		0.378	ENAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENAM	HGNC	protein_coding	OTTHUMT00000252166.3	43	0.00	0	G	NM_031889		71508638	71508638	+1	no_errors	ENST00000396073	ensembl	human	known	69_37n	frame_shift_del	11	15.38	2	DEL	1.000	-
ESF1	51575	genome.wustl.edu	37	20	13750669	13750669	+	Splice_Site	DEL	T	T	-			TCGA-A1-A0SQ-01A-21D-A142-09	TCGA-A1-A0SQ-10B-01W-A187-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9055ddce-a0ff-4980-af86-c07f949acbc3	88e47f34-a818-4ad9-ab74-66a1fe307ad4	g.chr20:13750669delT	ENST00000202816.1	-	7	1511		c.e7-2			NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						GGTATAAACCTAAGAAGTAAA	0.303																																						dbGAP											0													47.0	48.0	48.0					20																	13750669		2203	4297	6500	-	-	-	SO:0001630	splice_region_variant	0				CCDS13117.1	20p12.1	2007-02-12	2006-11-13	2006-11-13	ENSG00000089048	ENSG00000089048			15898	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 6"""	C20orf6			Standard	NM_016649		Approved	bA526K24.1	uc002wok.2	Q9H501	OTTHUMG00000031906	ENST00000202816.1:c.1404-2A>-	20.37:g.13750669delT			Q86X92|Q9H9Q5|Q9HA35|Q9NX93|Q9P1S6	Splice_Site	DEL	-	e6-2	ENST00000202816.1	37	c.1404-2	CCDS13117.1	20																																																																																			ESF1	-	-	ENSG00000089048		0.303	ESF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ESF1	HGNC	protein_coding	OTTHUMT00000078049.1	72	0.00	0	T	NM_016649	Intron	13750669	13750669	-1	no_errors	ENST00000202816	ensembl	human	known	69_37n	splice_site_del	14	12.50	2	DEL	0.998	-
FAM71A	149647	genome.wustl.edu	37	1	212799630	212799630	+	Missense_Mutation	SNP	G	G	A			TCGA-A1-A0SQ-01A-21D-A142-09	TCGA-A1-A0SQ-10B-01W-A187-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9055ddce-a0ff-4980-af86-c07f949acbc3	88e47f34-a818-4ad9-ab74-66a1fe307ad4	g.chr1:212799630G>A	ENST00000294829.3	+	1	1842	c.1411G>A	c.(1411-1413)Gat>Aat	p.D471N	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	471						nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		AGCCAATAGAGATGACAAAAA	0.562																																						dbGAP											0													64.0	72.0	70.0					1																	212799630		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS1507.1	1q32.3	2008-02-05			ENSG00000162771	ENSG00000162771			26541	protein-coding gene	gene with protein product						12477932	Standard	NM_153606		Approved	FLJ32796	uc010pth.1	Q8IYT1	OTTHUMG00000041084	ENST00000294829.3:c.1411G>A	1.37:g.212799630G>A	ENSP00000294829:p.Asp471Asn		Q5VTZ1	Missense_Mutation	SNP	pfam_DUF3699	p.D471N	ENST00000294829.3	37	c.1411	CCDS1507.1	1	.	.	.	.	.	.	.	.	.	.	G	10.26	1.300135	0.23650	.	.	ENSG00000162771	ENST00000294829;ENST00000545975	T	0.03717	3.83	4.19	0.141	0.14811	.	.	.	.	.	T	0.04092	0.0114	L	0.54323	1.7	0.09310	N	1	B	0.15141	0.012	B	0.09377	0.004	T	0.39375	-0.9617	9	0.45353	T	0.12	-0.0106	3.9902	0.09533	0.3119:0.194:0.494:0.0	.	471	Q8IYT1	FA71A_HUMAN	N	471;246	ENSP00000294829:D471N	ENSP00000294829:D471N	D	+	1	0	FAM71A	210866253	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.353000	0.20130	0.041000	0.15688	0.561000	0.74099	GAT	FAM71A	-	NULL	ENSG00000162771		0.562	FAM71A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM71A	HGNC	protein_coding	OTTHUMT00000098529.1	44	0.00	0	G	NM_153606		212799630	212799630	+1	no_errors	ENST00000294829	ensembl	human	known	69_37n	missense	39	37.10	23	SNP	0.000	A
GANC	2595	genome.wustl.edu	37	15	42619578	42619578	+	Missense_Mutation	SNP	G	G	A			TCGA-A1-A0SQ-01A-21D-A142-09	TCGA-A1-A0SQ-10B-01W-A187-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9055ddce-a0ff-4980-af86-c07f949acbc3	88e47f34-a818-4ad9-ab74-66a1fe307ad4	g.chr15:42619578G>A	ENST00000318010.8	+	13	1678	c.1438G>A	c.(1438-1440)Gat>Aat	p.D480N		NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	480					carbohydrate metabolic process (GO:0005975)		alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)	Miglitol(DB00491)	CTCTTACCTGGATTTCACCAA	0.423																																						dbGAP											0													274.0	244.0	254.0					15																	42619578		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF545045	CCDS10084.1	15q15.2	2012-10-02			ENSG00000214013	ENSG00000214013	3.2.1.20		4139	protein-coding gene	gene with protein product		104180				6995030, 12370436	Standard	NM_198141		Approved		uc001zpi.3	Q8TET4	OTTHUMG00000130487	ENST00000318010.8:c.1438G>A	15.37:g.42619578G>A	ENSP00000326227:p.Asp480Asn		Q52LQ4|Q8IWZ0|Q8IZM4|Q8IZM5	Missense_Mutation	SNP	pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd	p.D480N	ENST00000318010.8	37	c.1438	CCDS10084.1	15	.	.	.	.	.	.	.	.	.	.	G	35	5.413244	0.96072	.	.	ENSG00000214013	ENST00000318010	D	0.97731	-4.51	5.32	5.32	0.75619	Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.99102	0.9691	H	0.95004	3.61	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99410	1.0930	10	0.87932	D	0	-21.3211	17.2103	0.86929	0.0:0.0:1.0:0.0	.	480	Q8TET4	GANC_HUMAN	N	480	ENSP00000326227:D480N	ENSP00000326227:D480N	D	+	1	0	GANC	40406870	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.044000	0.93805	2.486000	0.83907	0.650000	0.86243	GAT	GANC	-	pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF	ENSG00000214013		0.423	GANC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GANC	HGNC	protein_coding	OTTHUMT00000252887.2	193	0.00	0	G	NM_198141		42619578	42619578	+1	no_errors	ENST00000318010	ensembl	human	known	69_37n	missense	69	41.03	48	SNP	1.000	A
GATA3	2625	genome.wustl.edu	37	10	8115955	8115956	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A1-A0SQ-01A-21D-A142-09	TCGA-A1-A0SQ-10B-01W-A187-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9055ddce-a0ff-4980-af86-c07f949acbc3	88e47f34-a818-4ad9-ab74-66a1fe307ad4	g.chr10:8115955_8115956insC	ENST00000346208.3	+	6	1756_1757	c.1301_1302insC	c.(1300-1305)caccccfs	p.HP434fs	GATA3_ENST00000379328.3_Frame_Shift_Ins_p.HP435fs|GATA3_ENST00000461472.1_3'UTR			P23771	GATA3_HUMAN	GATA binding protein 3	434					anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cardiac right ventricle morphogenesis (GO:0003215)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|cellular response to interferon-alpha (GO:0035457)|cellular response to interleukin-4 (GO:0071353)|cellular response to tumor necrosis factor (GO:0071356)|defense response (GO:0006952)|developmental growth (GO:0048589)|ear development (GO:0043583)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|interferon-gamma secretion (GO:0072643)|interleukin-4 secretion (GO:0072602)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lymphocyte migration (GO:0072676)|male gonad development (GO:0008584)|mast cell differentiation (GO:0060374)|mesenchymal to epithelial transition (GO:0060231)|mesonephros development (GO:0001823)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell motility (GO:2000146)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in mesonephros development (GO:2000607)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation (GO:2000703)|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation (GO:2000734)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|nephric duct morphogenesis (GO:0072178)|neuron migration (GO:0001764)|norepinephrine biosynthetic process (GO:0042421)|otic vesicle development (GO:0071599)|parathyroid gland development (GO:0060017)|parathyroid hormone secretion (GO:0035898)|pharyngeal system development (GO:0060037)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|post-embryonic development (GO:0009791)|pro-T cell differentiation (GO:0002572)|regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)|regulation of cellular response to X-ray (GO:2000683)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of establishment of cell polarity (GO:2000114)|regulation of histone H3-K27 methylation (GO:0061085)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to virus (GO:0009615)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|T cell receptor signaling pathway (GO:0050852)|T-helper 2 cell differentiation (GO:0045064)|thymic T cell selection (GO:0045061)|thymus development (GO:0048538)|TOR signaling (GO:0031929)|transcription from RNA polymerase II promoter (GO:0006366)|type IV hypersensitivity (GO:0001806)|ureter maturation (GO:0035799)|ureteric bud formation (GO:0060676)|uterus development (GO:0060065)|ventricular septum development (GO:0003281)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer sequence-specific DNA binding (GO:0001158)|HMG box domain binding (GO:0071837)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						GGACCACACCACCCCTCCAGCA	0.629			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""																															dbGAP		Rec	yes		10	10p15	2625	GATA binding protein 3	yes	E	0																																										-	-	-	SO:0001589	frameshift_variant	0			X55122	CCDS7083.1, CCDS31143.1	10p15	2013-01-25	2001-11-28		ENSG00000107485	ENSG00000107485		"""GATA zinc finger domain containing"""	4172	protein-coding gene	gene with protein product		131320	"""GATA-binding protein 3"""			2050118, 15087456	Standard	NM_002051		Approved	HDR	uc001ijz.3	P23771	OTTHUMG00000017640	ENST00000346208.3:c.1305dupC	10.37:g.8115959_8115959dupC	ENSP00000341619:p.His434fs		Q5VWG7|Q5VWG8|Q96J16	Frame_Shift_Ins	INS	pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA	p.S437fs	ENST00000346208.3	37	c.1304_1305	CCDS7083.1	10																																																																																			GATA3	-	pirsf_TF_GATA-1/2/3	ENSG00000107485		0.629	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	GATA3	HGNC	protein_coding	OTTHUMT00000046719.1	34	0.00	0	-	NM_001002295		8115955	8115956	+1	no_errors	ENST00000379328	ensembl	human	known	69_37n	frame_shift_ins	26	44.68	21	INS	1.000:0.921	C
HYOU1	10525	genome.wustl.edu	37	11	118917361	118917361	+	Missense_Mutation	SNP	G	G	A	rs200784367		TCGA-A1-A0SQ-01A-21D-A142-09	TCGA-A1-A0SQ-10B-01W-A187-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9055ddce-a0ff-4980-af86-c07f949acbc3	88e47f34-a818-4ad9-ab74-66a1fe307ad4	g.chr11:118917361G>A	ENST00000404233.3	-	23	2873	c.2749C>T	c.(2749-2751)Cgg>Tgg	p.R917W	RP11-110I1.6_ENST00000531886.1_RNA|HYOU1_ENST00000529972.1_Missense_Mutation_p.R855W|HYOU1_ENST00000525859.1_Missense_Mutation_p.R855W	NM_001130991.1|NM_006389.3	NP_001124463.1|NP_006380.1	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1	917					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|response to ischemia (GO:0002931)|response to stress (GO:0006950)	endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		TCCTTAGGCCGGGGCCGGGGC	0.577													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18856	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													105.0	106.0	106.0					11																	118917361		2200	4295	6495	-	-	-	SO:0001583	missense	0			U65785	CCDS8408.1	11q23.1-q23.3	2011-09-02			ENSG00000149428	ENSG00000149428		"""Heat shock proteins / HSP70"""	16931	protein-coding gene	gene with protein product	"""glucose-regulated protein 170"""	601746				9020069, 10037731	Standard	XM_005271390		Approved	ORP150, HSP12A, Grp170	uc001pux.3	Q9Y4L1	OTTHUMG00000166354	ENST00000404233.3:c.2749C>T	11.37:g.118917361G>A	ENSP00000384144:p.Arg917Trp		A8C1Z0|B7Z909|Q2I204|Q53H25	Missense_Mutation	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.R917W	ENST00000404233.3	37	c.2749	CCDS8408.1	11	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	14.05	2.419222	0.42918	.	.	ENSG00000149428	ENST00000404233;ENST00000353883;ENST00000529972;ENST00000535579;ENST00000525859;ENST00000544701	T;T;T	0.01406	4.95;4.93;4.93	6.04	3.04	0.35103	.	0.200699	0.45867	D	0.000328	T	0.03695	0.0105	L	0.43152	1.355	0.58432	D	0.999999	D;D;D;D	0.69078	0.997;0.996;0.997;0.997	P;P;P;P	0.53490	0.698;0.727;0.698;0.698	T	0.45308	-0.9270	10	0.72032	D	0.01	-15.1767	16.112	0.81271	0.0:0.0:0.3855:0.6145	.	908;899;917;917	B3KXH0;B7Z2N4;Q9Y4L1;A8C1Z0	.;.;HYOU1_HUMAN;.	W	917;908;855;766;855;898	ENSP00000384144:R917W;ENSP00000437313:R855W;ENSP00000433397:R855W	ENSP00000278752:R908W	R	-	1	2	HYOU1	118422571	1.000000	0.71417	0.975000	0.42487	0.043000	0.13939	1.941000	0.40233	0.368000	0.24481	-0.397000	0.06425	CGG	HYOU1	-	NULL	ENSG00000149428		0.577	HYOU1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	HYOU1	HGNC	protein_coding	OTTHUMT00000389353.1	78	0.00	0	G	NM_006389		118917361	118917361	-1	no_errors	ENST00000404233	ensembl	human	known	69_37n	missense	20	62.50	35	SNP	0.796	A
KIF1A	547	genome.wustl.edu	37	2	241684897	241684897	+	Missense_Mutation	SNP	G	G	A			TCGA-A1-A0SQ-01A-21D-A142-09	TCGA-A1-A0SQ-10B-01W-A187-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9055ddce-a0ff-4980-af86-c07f949acbc3	88e47f34-a818-4ad9-ab74-66a1fe307ad4	g.chr2:241684897G>A	ENST00000320389.7	-	30	3267	c.3109C>T	c.(3109-3111)Ccc>Tcc	p.P1037S	KIF1A_ENST00000498729.2_Missense_Mutation_p.P1138S	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	1037					anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		TTCTTCAGGGGCTCTGTGGAG	0.602																																						dbGAP											0													78.0	94.0	89.0					2																	241684897		2040	4188	6228	-	-	-	SO:0001583	missense	0			AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	888	protein-coding gene	gene with protein product		601255	"""axonal transport of synaptic vesicles"", ""chromosome 2 open reading frame 20"", ""spastic paraplegia 30 (autosomal recessive)"""	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.3109C>T	2.37:g.241684897G>A	ENSP00000322791:p.Pro1037Ser		B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,prints_Kinesin_motor_dom,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom	p.P1138S	ENST00000320389.7	37	c.3412	CCDS46561.1	2	.	.	.	.	.	.	.	.	.	.	G	29.0	4.967680	0.92855	.	.	ENSG00000130294	ENST00000320389;ENST00000498729;ENST00000373308;ENST00000404283	D;D;D	0.84944	-1.92;-1.92;-1.92	4.56	4.56	0.56223	.	0.000000	0.85682	U	0.000000	D	0.92694	0.7678	M	0.84326	2.69	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.998;0.998	D	0.93514	0.6855	10	0.54805	T	0.06	.	17.3361	0.87281	0.0:0.0:1.0:0.0	.	1138;1138;1037	F5H045;Q12756-2;Q12756	.;.;KIF1A_HUMAN	S	1037;1138;1138;1138	ENSP00000322791:P1037S;ENSP00000438388:P1138S;ENSP00000384231:P1138S	ENSP00000322791:P1037S	P	-	1	0	KIF1A	241333570	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.556000	0.98127	2.079000	0.62486	0.467000	0.42956	CCC	KIF1A	-	NULL	ENSG00000130294		0.602	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF1A	HGNC	protein_coding	OTTHUMT00000324536.3	22	0.00	0	G	NM_138483		241684897	241684897	-1	no_errors	ENST00000498729	ensembl	human	known	69_37n	missense	59	35.16	32	SNP	1.000	A
MAP4K1	11184	genome.wustl.edu	37	19	39092118	39092118	+	Silent	SNP	G	G	A			TCGA-A1-A0SQ-01A-21D-A142-09	TCGA-A1-A0SQ-10B-01W-A187-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9055ddce-a0ff-4980-af86-c07f949acbc3	88e47f34-a818-4ad9-ab74-66a1fe307ad4	g.chr19:39092118G>A	ENST00000591517.1	-	20	1522	c.1494C>T	c.(1492-1494)atC>atT	p.I498I	MAP4K1_ENST00000589130.1_Silent_p.I494I|MAP4K1_ENST00000586296.1_Intron|CTB-186G2.1_ENST00000589557.1_RNA|MAP4K1_ENST00000423454.2_Silent_p.I160I|MAP4K1_ENST00000396857.2_Silent_p.I498I	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	498	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|cell proliferation (GO:0008283)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)	membrane (GO:0016020)	ATP binding (GO:0005524)|MAP kinase kinase kinase kinase activity (GO:0008349)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CCGTGCTGTGGATCCGGAGGG	0.622																																						dbGAP											0													29.0	33.0	31.0					19																	39092118		1994	4158	6152	-	-	-	SO:0001819	synonymous_variant	0			U66464	CCDS42564.1, CCDS59385.1	19q13.1-q13.4	2011-06-09				ENSG00000104814	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6863	protein-coding gene	gene with protein product	"""hematopoietic progenitor kinase 1"""	601983				8824585	Standard	NM_001042600		Approved	HPK1	uc002oix.1	Q92918		ENST00000591517.1:c.1494C>T	19.37:g.39092118G>A				Missense_Mutation	SNP	pfam_Citron,smart_Citron	p.S202F	ENST00000591517.1	37	c.605	CCDS59385.1	19																																																																																			MAP4K1	-	NULL	ENSG00000104814		0.622	MAP4K1-002	KNOWN	basic|CCDS	protein_coding	MAP4K1	HGNC	protein_coding	OTTHUMT00000453390.1	31	0.00	0	G	NM_001042600		39092118	39092118	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000591921	ensembl	human	novel	69_37n	missense	118	15.11	21	SNP	1.000	A
MCCC1	56922	genome.wustl.edu	37	3	182812366	182812367	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A1-A0SQ-01A-21D-A142-09	TCGA-A1-A0SQ-10B-01W-A187-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9055ddce-a0ff-4980-af86-c07f949acbc3	88e47f34-a818-4ad9-ab74-66a1fe307ad4	g.chr3:182812366_182812367insA	ENST00000265594.4	-	2	262_263	c.116_117insT	c.(115-117)atgfs	p.M39fs	MCCC1_ENST00000539926.1_5'UTR|MCCC1_ENST00000492597.1_5'UTR	NM_020166.3	NP_064551.3	Q96RQ3	MCCA_HUMAN	methylcrotonoyl-CoA carboxylase 1 (alpha)	39					biotin metabolic process (GO:0006768)|branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|leucine catabolic process (GO:0006552)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)|methylcrotonoyl-CoA carboxylase activity (GO:0004485)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	TTGTGTACTTCATGGTTCTTTG	0.351																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF310972	CCDS3241.1	3q27.1	2010-04-30	2010-04-30		ENSG00000078070	ENSG00000078070	6.4.1.4		6936	protein-coding gene	gene with protein product		609010	"""methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)"""			11170888	Standard	XR_241502		Approved	MCCA	uc003fle.3	Q96RQ3	OTTHUMG00000158355	ENST00000265594.4:c.117dupT	3.37:g.182812367_182812367dupA	ENSP00000265594:p.Met39fs		Q59ES4|Q9H959|Q9NS97	Frame_Shift_Ins	INS	pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_carboxylate-amine,pfam_ATP-grasp_RimK-type,pfam_ATP-grasp_DUF201-type,superfamily_PreATP-grasp_fold,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_Biotin_lipoyl	p.M39fs	ENST00000265594.4	37	c.117_116	CCDS3241.1	3																																																																																			MCCC1	-	superfamily_PreATP-grasp_fold	ENSG00000078070		0.351	MCCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCCC1	HGNC	protein_coding	OTTHUMT00000350775.1	126	0.00	0	-	NM_020166		182812366	182812367	-1	no_errors	ENST00000265594	ensembl	human	known	69_37n	frame_shift_ins	61	32.97	30	INS	0.969:0.660	A
MTOR	2475	genome.wustl.edu	37	1	11300583	11300583	+	Silent	SNP	G	G	C			TCGA-A1-A0SQ-01A-21D-A142-09	TCGA-A1-A0SQ-10B-01W-A187-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9055ddce-a0ff-4980-af86-c07f949acbc3	88e47f34-a818-4ad9-ab74-66a1fe307ad4	g.chr1:11300583G>C	ENST00000361445.4	-	11	1639	c.1563C>G	c.(1561-1563)ctC>ctG	p.L521L		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	521	Interaction with NBN.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|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(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	TCAGGTCGTAGAGCACTGCAG	0.522																																						dbGAP											0													137.0	119.0	125.0					1																	11300583		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"""FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin"""	601231	"""FK506 binding protein 12-rapamycin associated protein 1"""	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.1563C>G	1.37:g.11300583G>C			Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Silent	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_FKBP_rapamycin-assoc_FKBP12-bd,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_FKBP_rapamycin-assoc_FKBP12-bd,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.L521	ENST00000361445.4	37	c.1563	CCDS127.1	1																																																																																			MTOR	-	superfamily_ARM-type_fold	ENSG00000198793		0.522	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTOR	HGNC	protein_coding	OTTHUMT00000005558.1	46	0.00	0	G	NM_004958		11300583	11300583	-1	no_errors	ENST00000361445	ensembl	human	known	69_37n	silent	46	47.13	41	SNP	1.000	C
NTRK2	4915	genome.wustl.edu	37	9	87635261	87635261	+	Silent	SNP	C	C	T			TCGA-A1-A0SQ-01A-21D-A142-09	TCGA-A1-A0SQ-10B-01W-A187-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9055ddce-a0ff-4980-af86-c07f949acbc3	88e47f34-a818-4ad9-ab74-66a1fe307ad4	g.chr9:87635261C>T	ENST00000323115.4	+	16	2618	c.2265C>T	c.(2263-2265)taC>taT	p.Y755Y	NTRK2_ENST00000376214.1_Silent_p.Y771Y|NTRK2_ENST00000376213.1_Silent_p.Y755Y|NTRK2_ENST00000277120.3_Silent_p.Y771Y			Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	755	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of adenylate cyclase activity (GO:0007190)|aging (GO:0007568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|central nervous system neuron development (GO:0021954)|cerebral cortex development (GO:0021987)|circadian rhythm (GO:0007623)|feeding behavior (GO:0007631)|glutamate secretion (GO:0014047)|learning (GO:0007612)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mechanoreceptor differentiation (GO:0042490)|negative regulation of anoikis (GO:2000811)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular junction development (GO:0007528)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peripheral nervous system neuron development (GO:0048935)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|regulation of dendrite development (GO:0050773)|regulation of neurotransmitter secretion (GO:0046928)|regulation of protein kinase B signaling (GO:0051896)|regulation of Rac GTPase activity (GO:0032314)|response to auditory stimulus (GO:0010996)|retinal rod cell development (GO:0046548)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vasculogenesis (GO:0001570)	cell surface (GO:0009986)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endosome (GO:0005768)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|receptor complex (GO:0043235)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|brain-derived neurotrophic factor binding (GO:0048403)|brain-derived neurotrophic factor-activated receptor activity (GO:0060175)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46					Amitriptyline(DB00321)	AGCCCTGGTACCAGCTGTCAA	0.552										TSP Lung(25;0.17)																												dbGAP											0													112.0	102.0	105.0					9																	87635261		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF410902	CCDS6671.1, CCDS35050.1, CCDS35051.1, CCDS35052.1, CCDS35053.1	9q22.1	2013-01-11			ENSG00000148053	ENSG00000148053	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8032	protein-coding gene	gene with protein product		600456				7789988	Standard	NM_001018065		Approved	TRKB	uc004anz.1	Q16620	OTTHUMG00000020120	ENST00000323115.4:c.2265C>T	9.37:g.87635261C>T			B1ANZ4|B4DFV9|Q16675|Q59GJ1|Q8WXJ5|Q8WXJ6|Q8WXJ7	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_LRR-contain_N,superfamily_Kinase-like_dom,smart_LRR-contain_N,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_NGF_rcpt,prints_Tyr_kin_neurotrophic_rcpt_2	p.Y771	ENST00000323115.4	37	c.2313	CCDS35050.1	9																																																																																			NTRK2	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	ENSG00000148053		0.552	NTRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NTRK2	HGNC	protein_coding	OTTHUMT00000052882.1	36	0.00	0	C			87635261	87635261	+1	no_errors	ENST00000277120	ensembl	human	known	69_37n	silent	17	34.62	9	SNP	1.000	T
PLCE1	51196	genome.wustl.edu	37	10	96076406	96076406	+	Missense_Mutation	SNP	C	C	A			TCGA-A1-A0SQ-01A-21D-A142-09	TCGA-A1-A0SQ-10B-01W-A187-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9055ddce-a0ff-4980-af86-c07f949acbc3	88e47f34-a818-4ad9-ab74-66a1fe307ad4	g.chr10:96076406C>A	ENST00000371380.3	+	28	6470	c.6235C>A	c.(6235-6237)Cca>Aca	p.P2079T	PLCE1_ENST00000260766.3_Missense_Mutation_p.P2079T|PLCE1_ENST00000371385.3_Missense_Mutation_p.P1771T|NOC3L_ENST00000543788.1_Intron|RP11-76P2.4_ENST00000609123.1_RNA|PLCE1_ENST00000371375.1_Missense_Mutation_p.P1771T			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	2079	Ras-associating 1. {ECO:0000255|PROSITE- ProRule:PRU00166}.				activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TAGGAAACAACCATTCCAGAG	0.368																																						dbGAP											0													84.0	81.0	82.0					10																	96076406		1829	4083	5912	-	-	-	SO:0001583	missense	0				CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.6235C>A	10.37:g.96076406C>A	ENSP00000360431:p.Pro2079Thr		A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_Ras-assoc,pfam_RasGRF_CDC25,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,smart_Ras-assoc,pfscan_C2_membr_targeting,pfscan_Ras-assoc,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,pfscan_RasGRF_CDC25,prints_Pinositol_PLipase_C	p.P2079T	ENST00000371380.3	37	c.6235	CCDS41552.1	10	.	.	.	.	.	.	.	.	.	.	C	20.5	4.006072	0.74932	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	T;T;T;T	0.25912	1.77;1.77;1.79;1.79	5.57	5.57	0.84162	.	0.283230	0.35291	N	0.003319	T	0.32285	0.0824	L	0.32530	0.975	0.80722	D	1	P;P;P	0.42556	0.783;0.463;0.669	P;B;B	0.47402	0.546;0.361;0.335	T	0.04053	-1.0981	10	0.87932	D	0	.	19.1607	0.93529	0.0:1.0:0.0:0.0	.	2063;1771;2079	B7ZM61;Q9P212-2;Q9P212	.;.;PLCE1_HUMAN	T	2079;2079;1771;1771	ENSP00000260766:P2079T;ENSP00000360431:P2079T;ENSP00000360438:P1771T;ENSP00000360426:P1771T	ENSP00000260766:P2079T	P	+	1	0	PLCE1	96066396	0.945000	0.32115	0.991000	0.47740	0.995000	0.86356	2.088000	0.41663	2.619000	0.88677	0.561000	0.74099	CCA	PLCE1	-	NULL	ENSG00000138193		0.368	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCE1	HGNC	protein_coding	OTTHUMT00000049469.3	35	0.00	0	C	NM_016341		96076406	96076406	+1	no_errors	ENST00000371380	ensembl	human	known	69_37n	missense	27	18.18	6	SNP	0.995	A
RASGRP4	115727	genome.wustl.edu	37	19	38910824	38910824	+	Silent	SNP	G	G	A			TCGA-A1-A0SQ-01A-21D-A142-09	TCGA-A1-A0SQ-10B-01W-A187-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9055ddce-a0ff-4980-af86-c07f949acbc3	88e47f34-a818-4ad9-ab74-66a1fe307ad4	g.chr19:38910824G>A	ENST00000587738.1	-	5	526	c.456C>T	c.(454-456)acC>acT	p.T152T	RASGRP4_ENST00000586305.1_Silent_p.T152T|RASGRP4_ENST00000293062.9_Silent_p.T152T|RASGRP4_ENST00000587753.1_Silent_p.T152T|RASGRP4_ENST00000433821.2_Silent_p.T152T|RASGRP4_ENST00000426920.2_Silent_p.T152T|RASGRP4_ENST00000454404.2_Silent_p.T152T			Q8TDF6	GRP4_HUMAN	RAS guanyl releasing protein 4	152	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				activation of phospholipase C activity (GO:0007202)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|myeloid cell differentiation (GO:0030099)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|response to extracellular stimulus (GO:0009991)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|GTP-dependent protein binding (GO:0030742)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1)	23	all_cancers(60;4.21e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CCCGGGCCACGGTGGCCCAGA	0.592																																						dbGAP											0													31.0	38.0	36.0					19																	38910824		1996	4167	6163	-	-	-	SO:0001819	synonymous_variant	0			AY048119	CCDS46068.1, CCDS54262.1, CCDS54263.1, CCDS54264.1	19q13.1	2013-01-10						"""EF-hand domain containing"""	18958	protein-coding gene	gene with protein product		607320				11956218	Standard	NM_170604		Approved		uc021uub.1	Q8TDF6		ENST00000587738.1:c.456C>T	19.37:g.38910824G>A			A6H8M4|C0LTP2|C0LTP3|C0LTP4|C0LTP5|C0LTP7|C9J416|C9JHZ1|Q8N858|Q96QN5|Q96QN6|Q96QN7	Silent	SNP	pfam_RasGRF_CDC25,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_EF_HAND_2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_DAG/PE-bd	p.T152	ENST00000587738.1	37	c.456	CCDS46068.1	19																																																																																			RASGRP4	-	superfamily_Ras_GEF_dom,pfscan_Ras-like_Gua-exchang_fac_N	ENSG00000171777		0.592	RASGRP4-013	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	RASGRP4	HGNC	protein_coding	OTTHUMT00000460540.1	52	0.00	0	G	NM_170604		38910824	38910824	-1	no_errors	ENST00000587738	ensembl	human	known	69_37n	silent	98	13.91	16	SNP	0.045	A
PTPRH	5794	genome.wustl.edu	37	19	55707989	55707989	+	Missense_Mutation	SNP	C	C	G			TCGA-A1-A0SQ-01A-21D-A142-09	TCGA-A1-A0SQ-10B-01W-A187-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9055ddce-a0ff-4980-af86-c07f949acbc3	88e47f34-a818-4ad9-ab74-66a1fe307ad4	g.chr19:55707989C>G	ENST00000376350.3	-	10	2180	c.2158G>C	c.(2158-2160)Ggt>Cgt	p.G720R	PTPRH_ENST00000588559.1_5'UTR|PTPRH_ENST00000263434.5_Missense_Mutation_p.G542R	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	720	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic process (GO:0006915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		GGCCCGAGACCCAACACAGAC	0.632																																						dbGAP											0													72.0	62.0	65.0					19																	55707989		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS33110.1, CCDS54321.1	19q13.4	2013-02-11				ENSG00000080031		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9672	protein-coding gene	gene with protein product		602510				8294459	Standard	XM_006723312		Approved	SAP-1	uc002qjq.3	Q9HD43		ENST00000376350.3:c.2158G>C	19.37:g.55707989C>G	ENSP00000365528:p.Gly720Arg		C9JCH2|Q15426|Q2NKN9|Q2NKP0	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.G720R	ENST00000376350.3	37	c.2158	CCDS33110.1	19	.	.	.	.	.	.	.	.	.	.	C	12.48	1.950936	0.34471	.	.	ENSG00000080031	ENST00000376350;ENST00000263434	T;T	0.06218	3.33;4.32	5.16	2.98	0.34508	Fibronectin, type III (1);	1.588210	0.04144	N	0.320052	T	0.10680	0.0261	N	0.14661	0.345	0.09310	N	1	D;D;P	0.64830	0.99;0.994;0.753	P;D;B	0.63597	0.827;0.916;0.268	T	0.39921	-0.9590	10	0.25106	T	0.35	.	6.6832	0.23131	0.1761:0.7319:0.0:0.092	.	542;542;720	C9JCH2;Q9HD43-2;Q9HD43	.;.;PTPRH_HUMAN	R	720;542	ENSP00000365528:G720R;ENSP00000263434:G542R	ENSP00000263434:G542R	G	-	1	0	PTPRH	60399801	0.004000	0.15560	0.000000	0.03702	0.002000	0.02628	1.989000	0.40707	0.655000	0.30866	0.650000	0.86243	GGT	PTPRH	-	NULL	ENSG00000080031		0.632	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRH	HGNC	protein_coding	OTTHUMT00000452649.1	12	0.00	0	C			55707989	55707989	-1	no_errors	ENST00000376350	ensembl	human	known	69_37n	missense	20	62.96	34	SNP	0.001	G
RFNG	5986	genome.wustl.edu	37	17	80008605	80008605	+	Missense_Mutation	SNP	G	G	A			TCGA-A1-A0SQ-01A-21D-A142-09	TCGA-A1-A0SQ-10B-01W-A187-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9055ddce-a0ff-4980-af86-c07f949acbc3	88e47f34-a818-4ad9-ab74-66a1fe307ad4	g.chr17:80008605G>A	ENST00000310496.4	-	3	359	c.352C>T	c.(352-354)Cgc>Tgc	p.R118C	RFNG_ENST00000429557.3_5'UTR|GPS1_ENST00000392358.2_5'Flank|GPS1_ENST00000355130.2_5'Flank|GPS1_ENST00000306823.6_5'Flank|GPS1_ENST00000320548.4_5'Flank|GPS1_ENST00000583983.1_3'UTR|GPS1_ENST00000578552.1_5'Flank|RFNG_ENST00000584838.1_5'UTR	NM_002917.1	NP_002908.1	Q9Y644	RFNG_HUMAN	RFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	118					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|pattern specification process (GO:0007389)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of protein binding (GO:0032092)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of Golgi membrane (GO:0030173)	metal ion binding (GO:0046872)|O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity (GO:0033829)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	3	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			TGACGAGTGCGCACCGCCGAG	0.622																																						dbGAP											0													103.0	93.0	97.0					17																	80008605		2202	4300	6502	-	-	-	SO:0001583	missense	0			BC069034	CCDS32773.1	17q25.3	2013-02-19	2006-11-13		ENSG00000169733	ENSG00000169733	2.4.1.222	"""Beta 3-glycosyltransferases"""	9974	protein-coding gene	gene with protein product		602578	"""radical fringe (Drosophila) homolog"", ""radical fringe homolog (Drosophila)"""			9187150	Standard	NM_002917		Approved		uc002kdj.3	Q9Y644	OTTHUMG00000178512	ENST00000310496.4:c.352C>T	17.37:g.80008605G>A	ENSP00000307971:p.Arg118Cys		O00588	Missense_Mutation	SNP	pfam_Fringe-like,pirsf_Fringe	p.R118C	ENST00000310496.4	37	c.352	CCDS32773.1	17	.	.	.	.	.	.	.	.	.	.	G	17.97	3.519333	0.64634	.	.	ENSG00000169733	ENST00000310496;ENST00000429557	T	0.64803	-0.12	3.78	3.78	0.43462	.	0.058216	0.64402	U	0.000002	T	0.65606	0.2707	N	0.22421	0.69	0.80722	D	1	D	0.76494	0.999	D	0.63597	0.916	T	0.71820	-0.4477	10	0.72032	D	0.01	-12.7722	15.6268	0.76867	0.0:0.0:1.0:0.0	.	118	Q9Y644	RFNG_HUMAN	C	118;77	ENSP00000307971:R118C	ENSP00000307971:R118C	R	-	1	0	RFNG	77601894	1.000000	0.71417	0.811000	0.32455	0.045000	0.14185	9.044000	0.93805	1.651000	0.50673	0.561000	0.74099	CGC	RFNG	-	pfam_Fringe-like,pirsf_Fringe	ENSG00000169733		0.622	RFNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RFNG	HGNC	protein_coding	OTTHUMT00000442263.1	11	0.00	0	G	NM_002917		80008605	80008605	-1	no_errors	ENST00000310496	ensembl	human	known	69_37n	missense	36	38.33	23	SNP	1.000	A
RP1L1	94137	genome.wustl.edu	37	8	10466300	10466300	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A1-A0SQ-01A-21D-A142-09	TCGA-A1-A0SQ-10B-01W-A187-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9055ddce-a0ff-4980-af86-c07f949acbc3	88e47f34-a818-4ad9-ab74-66a1fe307ad4	g.chr8:10466300G>A	ENST00000382483.3	-	4	5531	c.5308C>T	c.(5308-5310)Cag>Tag	p.Q1770*		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1850					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TCTCTCTCCTGAGCCATTGCA	0.582																																						dbGAP											0													178.0	186.0	184.0					8																	10466300		2038	4193	6231	-	-	-	SO:0001587	stop_gained	0			AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.5308C>T	8.37:g.10466300G>A	ENSP00000371923:p.Gln1770*		Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Nonsense_Mutation	SNP	pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	p.Q1770*	ENST00000382483.3	37	c.5308	CCDS43708.1	8	.	.	.	.	.	.	.	.	.	.	G	43	10.327769	0.99384	.	.	ENSG00000183638	ENST00000382483	.	.	.	4.35	1.41	0.22369	.	2.473690	0.02099	U	0.053747	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	-0.9659	14.0957	0.65019	0.0:0.4333:0.5667:0.0	.	.	.	.	X	1770	.	ENSP00000371923:Q1770X	Q	-	1	0	RP1L1	10503710	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	0.281000	0.18810	0.089000	0.17243	-0.519000	0.04390	CAG	RP1L1	-	NULL	ENSG00000183638		0.582	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP1L1	HGNC	protein_coding	OTTHUMT00000375673.1	90	0.00	0	G			10466300	10466300	-1	no_errors	ENST00000382483	ensembl	human	known	69_37n	nonsense	61	41.35	43	SNP	0.000	A
THUMPD2	80745	genome.wustl.edu	37	2	39997226	39997226	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A1-A0SQ-01A-21D-A142-09	TCGA-A1-A0SQ-10B-01W-A187-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9055ddce-a0ff-4980-af86-c07f949acbc3	88e47f34-a818-4ad9-ab74-66a1fe307ad4	g.chr2:39997226delT	ENST00000505747.1	-	3	323	c.296delA	c.(295-297)aatfs	p.N99fs	THUMPD2_ENST00000260619.6_Frame_Shift_Del_p.N69fs|THUMPD2_ENST00000454352.2_Frame_Shift_Del_p.N69fs|THUMPD2_ENST00000403537.3_5'UTR	NM_025264.4	NP_079540.2	Q9BTF0	THUM2_HUMAN	THUMP domain containing 2	99							methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	17		all_hematologic(82;0.248)				TGGATCTTCATTTATAAGTCT	0.303																																						dbGAP											0													40.0	41.0	41.0					2																	39997226		2183	4276	6459	-	-	-	SO:0001589	frameshift_variant	0			AF380576	CCDS1805.1, CCDS1805.2	2p22.2	2004-06-04	2004-06-04	2004-06-04	ENSG00000138050	ENSG00000138050			14890	protein-coding gene	gene with protein product		611751	"""chromosome 2 open reading frame 8"""	C2orf8		12063391	Standard	NM_025264		Approved	MGC2454	uc002rru.2	Q9BTF0	OTTHUMG00000102149	ENST00000505747.1:c.296delA	2.37:g.39997226delT	ENSP00000423933:p.Asn99fs		A8K7I7|Q53TT8|Q53TV0	Frame_Shift_Del	DEL	pfam_RNA_methylase_dom,pfam_Methyltransf_11,pfam_THUMP,pfam_Small_mtfrase_dom,pfam_UbiE/COQ5_MeTrFase,smart_THUMP,pfscan_THUMP	p.N99fs	ENST00000505747.1	37	c.296	CCDS1805.2	2																																																																																			THUMPD2	-	NULL	ENSG00000138050		0.303	THUMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THUMPD2	HGNC	protein_coding	OTTHUMT00000219991.2	58	0.00	0	T	NM_025264		39997226	39997226	-1	no_errors	ENST00000505747	ensembl	human	known	69_37n	frame_shift_del	15	11.76	2	DEL	0.984	-
TTC7B	145567	genome.wustl.edu	37	14	91156023	91156023	+	Missense_Mutation	SNP	G	G	A			TCGA-A1-A0SQ-01A-21D-A142-09	TCGA-A1-A0SQ-10B-01W-A187-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9055ddce-a0ff-4980-af86-c07f949acbc3	88e47f34-a818-4ad9-ab74-66a1fe307ad4	g.chr14:91156023G>A	ENST00000328459.6	-	7	932	c.811C>T	c.(811-813)Cgg>Tgg	p.R271W	TTC7B_ENST00000357056.2_Missense_Mutation_p.R271W	NM_001010854.1	NP_001010854.1	Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	271								p.R271W(1)		NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				CACATACCCCGCAACAAGATC	0.488																																						dbGAP											1	Substitution - Missense(1)	NS(1)											88.0	74.0	79.0					14																	91156023		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC035865	CCDS32140.1	14q32.12	2013-01-11	2004-06-02	2004-06-04		ENSG00000165914		"""Tetratricopeptide (TTC) repeat domain containing"""	19858	protein-coding gene	gene with protein product			"""tetratricopeptide repeat domain 7 like 1"""	TTC7L1			Standard	XM_005267367		Approved		uc001xyp.3	Q86TV6		ENST00000328459.6:c.811C>T	14.37:g.91156023G>A	ENSP00000336127:p.Arg271Trp		Q86U24|Q86VT3	Missense_Mutation	SNP	pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.R271W	ENST00000328459.6	37	c.811	CCDS32140.1	14	.	.	.	.	.	.	.	.	.	.	G	21.8	4.196546	0.79015	.	.	ENSG00000165914	ENST00000555768;ENST00000357056;ENST00000328459;ENST00000540938;ENST00000557766	T;T	0.46063	1.55;0.88	5.81	3.81	0.43845	.	0.000000	0.85682	D	0.000000	T	0.44456	0.1294	M	0.78456	2.415	0.80722	D	1	B	0.11235	0.004	B	0.04013	0.001	T	0.47598	-0.9105	10	0.51188	T	0.08	-22.4548	12.1701	0.54152	0.0697:0.0:0.8019:0.1284	.	271	Q86TV6	TTC7B_HUMAN	W	169;271;271;13;191	ENSP00000349564:R271W;ENSP00000336127:R271W	ENSP00000336127:R271W	R	-	1	2	TTC7B	90225776	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	3.935000	0.56560	1.452000	0.47756	0.655000	0.94253	CGG	TTC7B	-	NULL	ENSG00000165914		0.488	TTC7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC7B	HGNC	protein_coding	OTTHUMT00000411364.2	104	0.00	0	G			91156023	91156023	-1	no_errors	ENST00000357056	ensembl	human	known	69_37n	missense	56	22.22	16	SNP	1.000	A
WNT4	54361	genome.wustl.edu	37	1	22446727	22446727	+	Missense_Mutation	SNP	G	G	A			TCGA-A1-A0SQ-01A-21D-A142-09	TCGA-A1-A0SQ-10B-01W-A187-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9055ddce-a0ff-4980-af86-c07f949acbc3	88e47f34-a818-4ad9-ab74-66a1fe307ad4	g.chr1:22446727G>A	ENST00000290167.6	-	5	915	c.872C>T	c.(871-873)aCg>aTg	p.T291M	WNT4_ENST00000542383.1_Missense_Mutation_p.T236M	NM_030761.4	NP_110388.2	P56705	WNT4_HUMAN	wingless-type MMTV integration site family, member 4	291					adrenal gland development (GO:0030325)|androgen biosynthetic process (GO:0006702)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cellular response to starvation (GO:0009267)|cellular response to transforming growth factor beta stimulus (GO:0071560)|embryonic epithelial tube formation (GO:0001838)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization to plasma membrane (GO:0090002)|female gonad development (GO:0008585)|female sex determination (GO:0030237)|immature T cell proliferation in thymus (GO:0033080)|kidney development (GO:0001822)|liver development (GO:0001889)|male gonad development (GO:0008584)|mammary gland epithelium development (GO:0061180)|mesenchymal to epithelial transition (GO:0060231)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric nephron morphogenesis (GO:0072273)|metanephric tubule formation (GO:0072174)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell migration (GO:0030336)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of gene expression (GO:0010629)|negative regulation of male gonad development (GO:2000019)|negative regulation of steroid biosynthetic process (GO:0010894)|negative regulation of testicular blood vessel morphogenesis (GO:0061369)|negative regulation of testosterone biosynthetic process (GO:2000225)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of wound healing (GO:0061045)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via MAPK cascade (GO:0038030)|oocyte development (GO:0048599)|paramesonephric duct development (GO:0061205)|positive regulation of aldosterone biosynthetic process (GO:0032349)|positive regulation of bone mineralization (GO:0030501)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of cortisol biosynthetic process (GO:2000066)|positive regulation of dermatome development (GO:0061184)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of meiosis (GO:0045836)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription, DNA-templated (GO:0045893)|protein palmitoylation (GO:0018345)|regulation of cell-cell adhesion (GO:0022407)|renal vesicle formation (GO:0072033)|renal vesicle induction (GO:0072034)|smooth muscle cell differentiation (GO:0051145)|somatotropin secreting cell differentiation (GO:0060126)|tertiary branching involved in mammary gland duct morphogenesis (GO:0060748)|thyroid-stimulating hormone-secreting cell differentiation (GO:0060129)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	8		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;9.02e-26)|Colorectal(126;1.71e-07)|COAD - Colon adenocarcinoma(152;1.17e-05)|GBM - Glioblastoma multiforme(114;2.01e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000568)|KIRC - Kidney renal clear cell carcinoma(1967;0.00277)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		GCGGCCCCTCGTGCCCAGCAC	0.642																																						dbGAP											0													83.0	69.0	74.0					1																	22446727		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL031281	CCDS223.1	1p36.23-p35.1	2013-02-28			ENSG00000162552	ENSG00000162552		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	12783	protein-coding gene	gene with protein product		603490				8168088	Standard	NM_030761		Approved	WNT-4	uc001bfs.4	P56705	OTTHUMG00000002894	ENST00000290167.6:c.872C>T	1.37:g.22446727G>A	ENSP00000290167:p.Thr291Met		B4DJF9|Q5TZQ0|Q96T81|Q9BXF5|Q9H1J8|Q9UJM2	Missense_Mutation	SNP	pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt4	p.T291M	ENST00000290167.6	37	c.872	CCDS223.1	1	.	.	.	.	.	.	.	.	.	.	g	23.3	4.404367	0.83230	.	.	ENSG00000162552	ENST00000290167;ENST00000542383	D;D	0.83506	-1.73;-1.73	4.61	4.61	0.57282	.	0.000000	0.85682	D	0.000000	D	0.93841	0.8030	H	0.95850	3.73	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.95837	0.8863	10	0.87932	D	0	.	16.3793	0.83439	0.0:0.0:1.0:0.0	.	291	P56705	WNT4_HUMAN	M	291;236	ENSP00000290167:T291M;ENSP00000441033:T236M	ENSP00000290167:T291M	T	-	2	0	WNT4	22319314	1.000000	0.71417	0.995000	0.50966	0.969000	0.65631	9.794000	0.99096	2.282000	0.76494	0.450000	0.29827	ACG	WNT4	-	pfam_Wnt,smart_Wnt	ENSG00000162552		0.642	WNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNT4	HGNC	protein_coding	OTTHUMT00000008088.2	21	0.00	0	G			22446727	22446727	-1	no_errors	ENST00000290167	ensembl	human	known	69_37n	missense	24	36.84	14	SNP	1.000	A
XRCC2	7516	genome.wustl.edu	37	7	152345989	152345989	+	Missense_Mutation	SNP	G	G	A			TCGA-A1-A0SQ-01A-21D-A142-09	TCGA-A1-A0SQ-10B-01W-A187-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9055ddce-a0ff-4980-af86-c07f949acbc3	88e47f34-a818-4ad9-ab74-66a1fe307ad4	g.chr7:152345989G>A	ENST00000359321.1	-	3	666	c.581C>T	c.(580-582)aCg>aTg	p.T194M	XRCC2_ENST00000495707.1_5'UTR	NM_005431.1	NP_005422.1	O43543	XRCC2_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 2	194					centrosome organization (GO:0051297)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|in utero embryonic development (GO:0001701)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of neurogenesis (GO:0050769)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|strand invasion (GO:0042148)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Rad51B-Rad51C-Rad51D-XRCC2 complex (GO:0033063)|replication fork (GO:0005657)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)			NS(1)|breast(1)|large_intestine(5)|liver(1)|lung(1)|prostate(2)	11		all_hematologic(28;0.0592)|Prostate(32;0.081)	OV - Ovarian serous cystadenocarcinoma(82;0.0423)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0429)		AGTTTGTGTCGTTGCAAAAAG	0.438								Homologous recombination																														dbGAP											0													146.0	149.0	148.0					7																	152345989		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y08837	CCDS5933.1	7q36	2006-05-04			ENSG00000196584	ENSG00000196584			12829	protein-coding gene	gene with protein product	"""RAD51-like"""	600375				7607692, 10422536	Standard	NM_005431		Approved		uc003wld.3	O43543	OTTHUMG00000151470	ENST00000359321.1:c.581C>T	7.37:g.152345989G>A	ENSP00000352271:p.Thr194Met		B2R925	Missense_Mutation	SNP	pfam_DNA_recomb/repair_Rad51_C,pfscan_DNA_recomb_RecA/RadB_ATP-bd	p.T194M	ENST00000359321.1	37	c.581	CCDS5933.1	7	.	.	.	.	.	.	.	.	.	.	G	18.22	3.575521	0.65878	.	.	ENSG00000196584	ENST00000359321	T	0.56611	0.45	5.06	5.06	0.68205	DNA recombination/repair protein RecA/RadB, ATP-binding domain (1);DNA recombination and repair protein Rad51, C-terminal (1);	0.108051	0.64402	D	0.000006	T	0.76681	0.4021	M	0.87038	2.855	0.58432	D	0.999998	D	0.89917	1.0	D	0.77004	0.989	T	0.81771	-0.0780	10	0.87932	D	0	-17.3499	17.4343	0.87547	0.0:0.0:1.0:0.0	.	194	O43543	XRCC2_HUMAN	M	194	ENSP00000352271:T194M	ENSP00000352271:T194M	T	-	2	0	XRCC2	151976922	1.000000	0.71417	0.985000	0.45067	0.447000	0.32167	7.368000	0.79567	2.353000	0.79882	0.467000	0.42956	ACG	XRCC2	-	pfam_DNA_recomb/repair_Rad51_C,pfscan_DNA_recomb_RecA/RadB_ATP-bd	ENSG00000196584		0.438	XRCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XRCC2	HGNC	protein_coding	OTTHUMT00000322783.1	36	0.00	0	G	NM_005431		152345989	152345989	-1	no_errors	ENST00000359321	ensembl	human	known	69_37n	missense	28	34.88	15	SNP	0.999	A
