#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
AKT1	207	genome.wustl.edu	37	14	105246445	105246445	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A0XR-01A-11D-A10G-09	TCGA-AN-A0XR-10A-01D-A117-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e7dc7492-3a84-49c7-8dea-8f508b53dc40	974aff12-3ec4-41e2-852a-837a513edd6c	g.chr14:105246445A>C	ENST00000554581.1	-	2	1635	c.155T>G	c.(154-156)cTc>cGc	p.L52R	AKT1_ENST00000402615.2_Missense_Mutation_p.L52R|AKT1_ENST00000554848.1_Missense_Mutation_p.L52R|AKT1_ENST00000555528.1_Missense_Mutation_p.L52R|AKT1_ENST00000349310.3_Missense_Mutation_p.L52R|AKT1_ENST00000407796.2_Missense_Mutation_p.L52R|AKT1_ENST00000544168.1_5'Flank			P31749	AKT1_HUMAN	v-akt murine thymoma viral oncogene homolog 1	52	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation-induced cell death of T cells (GO:0006924)|aging (GO:0007568)|anagen (GO:0042640)|apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell projection organization (GO:0030030)|cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to mechanical stimulus (GO:0071260)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|execution phase of apoptosis (GO:0097194)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|gene expression (GO:0010467)|germ cell development (GO:0007281)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|glycogen cell differentiation involved in embryonic placenta development (GO:0060709)|hyaluronan metabolic process (GO:0030212)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|labyrinthine layer blood vessel development (GO:0060716)|mammary gland epithelial cell differentiation (GO:0060644)|maternal placenta development (GO:0001893)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of JNK cascade (GO:0046329)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of proteolysis (GO:0045861)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide metabolic process (GO:0046209)|osteoblast differentiation (GO:0001649)|peptidyl-serine phosphorylation (GO:0018105)|peripheral nervous system myelin maintenance (GO:0032287)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell growth (GO:0030307)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein import into nucleus, translocation (GO:0000060)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell cycle checkpoint (GO:1901976)|regulation of cell migration (GO:0030334)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of neuron projection development (GO:0010975)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of translation (GO:0006417)|response to fluid shear stress (GO:0034405)|response to food (GO:0032094)|response to heat (GO:0009408)|response to UV-A (GO:0070141)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|striated muscle cell differentiation (GO:0051146)|T cell costimulation (GO:0031295)|translation (GO:0006412)	cell-cell junction (GO:0005911)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|kinase activity (GO:0016301)|nitric-oxide synthase regulator activity (GO:0030235)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)	p.L52R(2)		NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	GAAGTTGTTGAGGGGAGCCTC	0.592		1	Mis		"""breast, colorectal, ovarian, NSCLC"""																																	dbGAP		Dom	yes		14	14q32.32	207	v-akt murine thymoma viral oncogene homolog 1		E	2	Substitution - Missense(2)	NS(1)|breast(1)											123.0	109.0	114.0					14																	105246445		2203	4300	6503	-	-	-	SO:0001583	missense	0			M63167	CCDS9994.1	14q32.33	2014-09-17			ENSG00000142208	ENSG00000142208	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	391	protein-coding gene	gene with protein product		164730					Standard	XM_005267401		Approved	RAC, PKB, PRKBA, AKT	uc001ypn.3	P31749	OTTHUMG00000170795	ENST00000554581.1:c.155T>G	14.37:g.105246445A>C	ENSP00000451828:p.Leu52Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAM5|B7Z5R1|Q9BWB6	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom	p.L52R	ENST00000554581.1	37	c.155	CCDS9994.1	14	.	.	.	.	.	.	.	.	.	.	A	16.76	3.211549	0.58343	.	.	ENSG00000142208	ENST00000554581;ENST00000407796;ENST00000349310;ENST00000402615;ENST00000555528;ENST00000554848;ENST00000555926	T;T;T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83;0.83;0.83	4.77	4.77	0.60923	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.64402	D	0.000003	T	0.64681	0.2620	M	0.63843	1.955	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	T	0.68443	-0.5407	10	0.87932	D	0	.	13.2474	0.60029	1.0:0.0:0.0:0.0	.	52	P31749	AKT1_HUMAN	R	52	ENSP00000451828:L52R;ENSP00000384293:L52R;ENSP00000270202:L52R;ENSP00000385326:L52R;ENSP00000450688:L52R;ENSP00000451166:L52R;ENSP00000451824:L52R	ENSP00000270202:L52R	L	-	2	0	AKT1	104317490	1.000000	0.71417	0.690000	0.30148	0.144000	0.21451	5.545000	0.67237	2.004000	0.58718	0.379000	0.24179	CTC	AKT1	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000142208		0.592	AKT1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	AKT1	HGNC	protein_coding	OTTHUMT00000410418.1	74	0.00	0	A	NM_005163		105246445	105246445	-1	no_errors	ENST00000349310	ensembl	human	known	69_37n	missense	11	89.81	97	SNP	0.998	C
APC	324	genome.wustl.edu	37	5	112179286	112179286	+	Silent	SNP	C	C	G			TCGA-AN-A0XR-01A-11D-A10G-09	TCGA-AN-A0XR-10A-01D-A117-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e7dc7492-3a84-49c7-8dea-8f508b53dc40	974aff12-3ec4-41e2-852a-837a513edd6c	g.chr5:112179286C>G	ENST00000457016.1	+	16	8375	c.7995C>G	c.(7993-7995)ccC>ccG	p.P2665P	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Silent_p.P2665P|APC_ENST00000508376.2_Silent_p.P2665P			P25054	APC_HUMAN	adenomatous polyposis coli	2665	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		AGGACTGTCCCATTAACAATC	0.408		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	dbGAP	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	1	Unknown(1)	skin(1)											98.0	104.0	102.0					5																	112179286		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.7995C>G	5.37:g.112179286C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DT03|Q15162|Q15163|Q93042	Silent	SNP	pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.P2665	ENST00000457016.1	37	c.7995	CCDS4107.1	5																																																																																			APC	-	NULL	ENSG00000134982		0.408	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	APC	HGNC	protein_coding	OTTHUMT00000250738.2	86	0.00	0	C	NM_000038		112179286	112179286	+1	no_errors	ENST00000257430	ensembl	human	known	69_37n	silent	118	37.57	71	SNP	1.000	G
ASB10	136371	genome.wustl.edu	37	7	150884267	150884268	+	5'Flank	DEL	AG	AG	-	rs372716545		TCGA-AN-A0XR-01A-11D-A10G-09	TCGA-AN-A0XR-10A-01D-A117-09	AG	AG					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e7dc7492-3a84-49c7-8dea-8f508b53dc40	974aff12-3ec4-41e2-852a-837a513edd6c	g.chr7:150884267_150884268delAG	ENST00000420175.2	-	0	0				ASB10_ENST00000377867.3_Intron|ASB10_ENST00000434669.1_Frame_Shift_Del_p.L29fs|ASB10_ENST00000275838.1_5'UTR|ASB10_ENST00000422024.1_Frame_Shift_Del_p.L29fs			Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box containing 10						intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGCCAAAGGCagagagagagag	0.594																																						dbGAP											0																																										-	-	-	SO:0001631	upstream_gene_variant	0			AK055536	CCDS5921.2, CCDS47749.1, CCDS47750.1, CCDS47749.2, CCDS47750.2	7q35	2014-02-04	2011-01-25		ENSG00000146926	ENSG00000146926		"""Ankyrin repeat domain containing"""	17185	protein-coding gene	gene with protein product		615054	"""ankyrin repeat and SOCS box-containing 10"", ""glaucoma 1, open angle, F (adult-onset)"""	GLC1F		22156576	Standard	NM_080871		Approved		uc003wjm.1	Q8WXI3	OTTHUMG00000157013		7.37:g.150884277_150884278delAG	Exception_encountered	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVH0|Q6ZUL6	Frame_Shift_Del	DEL	pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C	p.L29fs	ENST00000420175.2	37	c.86_85	CCDS47750.2	7																																																																																			ASB10	-	NULL	ENSG00000146926		0.594	ASB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASB10	HGNC	protein_coding	OTTHUMT00000347096.3	14	0.00	0	AG	NM_080871		150884267	150884268	-1	no_errors	ENST00000422024	ensembl	human	known	69_37n	frame_shift_del	38	11.63	5	DEL	0.003:0.000	-
ASB17	127247	genome.wustl.edu	37	1	76397891	76397891	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0XR-01A-11D-A10G-09	TCGA-AN-A0XR-10A-01D-A117-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e7dc7492-3a84-49c7-8dea-8f508b53dc40	974aff12-3ec4-41e2-852a-837a513edd6c	g.chr1:76397891C>T	ENST00000284142.6	-	1	225	c.86G>A	c.(85-87)aGa>aAa	p.R29K		NM_080868.2	NP_543144.1	Q8WXJ9	ASB17_HUMAN	ankyrin repeat and SOCS box containing 17	29					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	21						TAGGGAGGGTCTTTTAACAAT	0.378																																						dbGAP											0													85.0	88.0	87.0					1																	76397891		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF403035	CCDS671.1	1p22.3	2013-01-11	2011-01-25		ENSG00000154007	ENSG00000154007		"""Ankyrin repeat domain containing"""	19769	protein-coding gene	gene with protein product			"""ankyrin repeat and SOCS box-containing 17"""			12076535	Standard	NM_080868		Approved		uc001dhe.2	Q8WXJ9	OTTHUMG00000009787	ENST00000284142.6:c.86G>A	1.37:g.76397891C>T	ENSP00000284142:p.Arg29Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B1APB8|Q8N0X5	Missense_Mutation	SNP	pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_SOCS_C,pfscan_SOCS_C	p.R29K	ENST00000284142.6	37	c.86	CCDS671.1	1	.	.	.	.	.	.	.	.	.	.	C	16.74	3.206751	0.58343	.	.	ENSG00000154007	ENST00000284142	T	0.39787	1.06	6.08	5.17	0.71159	.	0.091679	0.47455	N	0.000227	T	0.15696	0.0378	L	0.27053	0.805	0.30148	N	0.803333	B	0.12013	0.005	B	0.11329	0.006	T	0.12682	-1.0538	10	0.87932	D	0	.	11.1471	0.48436	0.0:0.9161:0.0:0.0839	.	29	Q8WXJ9	ASB17_HUMAN	K	29	ENSP00000284142:R29K	ENSP00000284142:R29K	R	-	2	0	ASB17	76170479	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	2.372000	0.44257	1.586000	0.49944	0.655000	0.94253	AGA	ASB17	-	NULL	ENSG00000154007		0.378	ASB17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASB17	HGNC	protein_coding	OTTHUMT00000026982.1	97	0.00	0	C	NM_080868		76397891	76397891	-1	no_errors	ENST00000284142	ensembl	human	known	69_37n	missense	118	38.86	75	SNP	1.000	T
BRWD1	54014	genome.wustl.edu	37	21	40587280	40587280	+	Missense_Mutation	SNP	G	G	C			TCGA-AN-A0XR-01A-11D-A10G-09	TCGA-AN-A0XR-10A-01D-A117-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e7dc7492-3a84-49c7-8dea-8f508b53dc40	974aff12-3ec4-41e2-852a-837a513edd6c	g.chr21:40587280G>C	ENST00000333229.2	-	32	3995	c.3668C>G	c.(3667-3669)tCt>tGt	p.S1223C	BRWD1_ENST00000342449.3_Missense_Mutation_p.S1223C|BRWD1-IT1_ENST00000435608.1_RNA|BRWD1_ENST00000380800.3_Missense_Mutation_p.S1223C	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1223	Bromo 1. {ECO:0000255|PROSITE- ProRule:PRU00035}.				cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				AACTAACGCAGACAGCCTCCT	0.348																																					Melanoma(170;988 1986 4794 16843 39731)	dbGAP											0													107.0	98.0	101.0					21																	40587280		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"""WD repeat domain containing"""	12760	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 107"", ""WD repeat domain 9"""	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.3668C>G	21.37:g.40587280G>C	ENSP00000330753:p.Ser1223Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Bromodomain,superfamily_WD40_repeat_dom,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S1223C	ENST00000333229.2	37	c.3668	CCDS13662.1	21	.	.	.	.	.	.	.	.	.	.	G	25.7	4.660042	0.88154	.	.	ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800;ENST00000380783	T;T;T	0.30981	1.51;1.51;1.51	5.73	5.73	0.89815	Bromodomain (5);	0.000000	0.64402	D	0.000002	T	0.66848	0.2831	M	0.91140	3.18	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.997;0.996;1.0	T	0.73867	-0.3847	10	0.87932	D	0	.	19.9133	0.97031	0.0:0.0:1.0:0.0	.	1223;1223;1223	Q9NSI6-3;Q9NSI6-2;Q9NSI6	.;.;BRWD1_HUMAN	C	1223;1223;1223;227	ENSP00000330753:S1223C;ENSP00000344333:S1223C;ENSP00000370178:S1223C	ENSP00000330753:S1223C	S	-	2	0	BRWD1	39509150	1.000000	0.71417	0.992000	0.48379	0.974000	0.67602	9.357000	0.97099	2.721000	0.93114	0.655000	0.94253	TCT	BRWD1	-	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain	ENSG00000185658		0.348	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRWD1	HGNC	protein_coding	OTTHUMT00000141398.3	197	0.00	0	G	NM_033656		40587280	40587280	-1	no_errors	ENST00000333229	ensembl	human	known	69_37n	missense	233	43.45	179	SNP	1.000	C
C11orf63	79864	genome.wustl.edu	37	11	122805197	122805197	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0XR-01A-11D-A10G-09	TCGA-AN-A0XR-10A-01D-A117-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e7dc7492-3a84-49c7-8dea-8f508b53dc40	974aff12-3ec4-41e2-852a-837a513edd6c	g.chr11:122805197G>A	ENST00000531316.1	+	4	1140	c.1048G>A	c.(1048-1050)Gac>Aac	p.D350N	C11orf63_ENST00000227349.2_Missense_Mutation_p.D350N			Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	350					axoneme assembly (GO:0035082)|brain development (GO:0007420)|cerebrospinal fluid secretion (GO:0033326)|ciliary basal body organization (GO:0032053)					breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		GCAACCTTCTGACATGGTGAA	0.403																																						dbGAP											0													68.0	57.0	60.0					11																	122805197		2202	4299	6501	-	-	-	SO:0001583	missense	0			BC068507	CCDS8438.1, CCDS8439.1	11q24.1	2012-05-25			ENSG00000109944	ENSG00000109944			26288	protein-coding gene	gene with protein product						12477932	Standard	NM_024806		Approved	FLJ23554	uc001pym.4	Q6NUN7	OTTHUMG00000166027	ENST00000531316.1:c.1048G>A	11.37:g.122805197G>A	ENSP00000431669:p.Asp350Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6G0|Q96GB5|Q9H5D6	Missense_Mutation	SNP	NULL	p.D350N	ENST00000531316.1	37	c.1048	CCDS8438.1	11	.	.	.	.	.	.	.	.	.	.	G	12.76	2.035445	0.35893	.	.	ENSG00000109944	ENST00000227349;ENST00000531316	T;T	0.24908	1.83;1.83	5.46	3.44	0.39384	.	0.678529	0.13563	N	0.378606	T	0.15998	0.0385	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.16188	-1.0411	10	0.32370	T	0.25	-12.0983	7.5438	0.27755	0.0899:0.2405:0.6696:0.0	.	350	Q6NUN7	CK063_HUMAN	N	350	ENSP00000227349:D350N;ENSP00000431669:D350N	ENSP00000227349:D350N	D	+	1	0	C11orf63	122310407	0.011000	0.17503	0.044000	0.18714	0.022000	0.10575	0.726000	0.25984	1.270000	0.44297	0.585000	0.79938	GAC	C11orf63	-	NULL	ENSG00000109944		0.403	C11orf63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C11orf63	HGNC	protein_coding	OTTHUMT00000387511.1	47	0.00	0	G	NM_024806		122805197	122805197	+1	no_errors	ENST00000227349	ensembl	human	known	69_37n	missense	85	45.86	72	SNP	0.072	A
CDH9	1007	genome.wustl.edu	37	5	26881437	26881437	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A0XR-01A-11D-A10G-09	TCGA-AN-A0XR-10A-01D-A117-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e7dc7492-3a84-49c7-8dea-8f508b53dc40	974aff12-3ec4-41e2-852a-837a513edd6c	g.chr5:26881437G>T	ENST00000231021.4	-	12	2350	c.2178C>A	c.(2176-2178)gaC>gaA	p.D726E		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	726					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						GTGCACTTGGGTCTGCGTCGT	0.418																																					Melanoma(8;187 585 15745 40864 52829)	dbGAP											0													152.0	143.0	146.0					5																	26881437		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.2178C>A	5.37:g.26881437G>T	ENSP00000231021:p.Asp726Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3B7I5	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D726E	ENST00000231021.4	37	c.2178	CCDS3893.1	5	.	.	.	.	.	.	.	.	.	.	G	15.23	2.771054	0.49680	.	.	ENSG00000113100	ENST00000231021	T	0.79653	-1.29	5.36	0.606	0.17559	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	D	0.87920	0.6299	M	0.84585	2.705	0.39897	D	0.97384	D;D	0.69078	0.997;0.997	D;D	0.75484	0.967;0.986	D	0.86002	0.1495	9	.	.	.	.	8.8946	0.35455	0.3841:0.0:0.6159:0.0	.	319;726	B4DFP0;Q9ULB4	.;CADH9_HUMAN	E	726	ENSP00000231021:D726E	.	D	-	3	2	CDH9	26917194	0.953000	0.32496	0.998000	0.56505	0.509000	0.34042	0.096000	0.15147	0.020000	0.15106	-0.252000	0.11476	GAC	CDH9	-	pfam_Cadherin_cytoplasmic-dom	ENSG00000113100		0.418	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH9	HGNC	protein_coding	OTTHUMT00000207352.1	210	0.47	1	G	NM_016279		26881437	26881437	-1	no_errors	ENST00000231021	ensembl	human	known	69_37n	missense	275	41.61	196	SNP	1.000	T
CELP	1057	genome.wustl.edu	37	9	135959979	135959979	+	RNA	SNP	C	C	T	rs200376808	byFrequency	TCGA-AN-A0XR-01A-11D-A10G-09	TCGA-AN-A0XR-10A-01D-A117-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e7dc7492-3a84-49c7-8dea-8f508b53dc40	974aff12-3ec4-41e2-852a-837a513edd6c	g.chr9:135959979C>T	ENST00000411440.2	+	0	225					NR_001275.2				carboxyl ester lipase pseudogene																		GCCACATCTTCGCCAGCATCG	0.602																																						dbGAP											0																																										-	-	-			0			L14813		9q34.2	2014-03-18	2003-02-28	2003-03-07	ENSG00000170827	ENSG00000170827			1849	pseudogene	pseudogene			"""carboxyl ester lipase-like (bile salt-stimulated lipase-like)"""	CELL		1639390	Standard	NR_001275		Approved		uc011mcu.1		OTTHUMG00000020857		9.37:g.135959979C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000411440.2	37	NULL		9																																																																																			CELP	-	-	ENSG00000170827		0.602	CELP-002	KNOWN	basic	processed_transcript	CELP	HGNC	pseudogene	OTTHUMT00000339837.1	12	0.00	0	C	NM_001808		135959979	135959979	+1	no_errors	ENST00000411440	ensembl	human	known	69_37n	rna	19	32.14	9	SNP	0.917	T
CHD5	26038	genome.wustl.edu	37	1	6206325	6206325	+	Silent	SNP	G	G	A			TCGA-AN-A0XR-01A-11D-A10G-09	TCGA-AN-A0XR-10A-01D-A117-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e7dc7492-3a84-49c7-8dea-8f508b53dc40	974aff12-3ec4-41e2-852a-837a513edd6c	g.chr1:6206325G>A	ENST00000262450.3	-	11	1848	c.1749C>T	c.(1747-1749)taC>taT	p.Y583Y	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		TGCCATAGCGGTAGAAGCGCT	0.602																																						dbGAP											0													151.0	151.0	151.0					1																	6206325		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"""Zinc fingers, PHD-type"""	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.1749C>T	1.37:g.6206325G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8KAP8|A8MQ44|D3DSH9|O60740	Silent	SNP	pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.Y583	ENST00000262450.3	37	c.1749	CCDS57.1	1																																																																																			CHD5	-	superfamily_Chromodomain-like	ENSG00000116254		0.602	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD5	HGNC	protein_coding	OTTHUMT00000002823.2	103	0.00	0	G	NM_015557		6206325	6206325	-1	no_errors	ENST00000262450	ensembl	human	known	69_37n	silent	128	41.28	90	SNP	1.000	A
CMTM2	146225	genome.wustl.edu	37	16	66613573	66613573	+	Silent	SNP	G	G	A			TCGA-AN-A0XR-01A-11D-A10G-09	TCGA-AN-A0XR-10A-01D-A117-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e7dc7492-3a84-49c7-8dea-8f508b53dc40	974aff12-3ec4-41e2-852a-837a513edd6c	g.chr16:66613573G>A	ENST00000268595.2	+	1	214	c.63G>A	c.(61-63)ggG>ggA	p.G21G	CMTM2_ENST00000379486.2_Silent_p.G21G|RP11-403P17.2_ENST00000568430.1_RNA	NM_144673.2	NP_653274.1	Q8TAZ6	CKLF2_HUMAN	CKLF-like MARVEL transmembrane domain containing 2	21					chemotaxis (GO:0006935)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.068)|Epithelial(162;0.212)		CTCCACCCGGGGCCAAACCCG	0.597																																						dbGAP											0													71.0	67.0	68.0					16																	66613573		2201	4300	6501	-	-	-	SO:0001819	synonymous_variant	0			BC025354	CCDS10814.1, CCDS56001.1	16q22.1-q22.3	2008-02-05	2005-11-08	2005-11-08	ENSG00000140932	ENSG00000140932			19173	protein-coding gene	gene with protein product		607885	"""chemokine-like factor super family 2"", ""chemokine-like factor superfamily 2"""	CKLFSF2			Standard	NM_001199317		Approved	MGC39436, FLJ25732	uc002ept.3	Q8TAZ6	OTTHUMG00000137501	ENST00000268595.2:c.63G>A	16.37:g.66613573G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5I2A4|Q8N7E5	Silent	SNP	NULL	p.G21	ENST00000268595.2	37	c.63	CCDS10814.1	16																																																																																			CMTM2	-	NULL	ENSG00000140932		0.597	CMTM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CMTM2	HGNC	protein_coding	OTTHUMT00000268808.1	40	0.00	0	G			66613573	66613573	+1	no_errors	ENST00000268595	ensembl	human	known	69_37n	silent	13	75.00	39	SNP	0.001	A
COL6A5	256076	genome.wustl.edu	37	3	130134498	130134498	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0XR-01A-11D-A10G-09	TCGA-AN-A0XR-10A-01D-A117-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e7dc7492-3a84-49c7-8dea-8f508b53dc40	974aff12-3ec4-41e2-852a-837a513edd6c	g.chr3:130134498G>A	ENST00000432398.2	+	23	5265	c.4771G>A	c.(4771-4773)Gga>Aga	p.G1591R	COL6A5_ENST00000265379.6_Missense_Mutation_p.G1591R	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	1591	Triple-helical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						GGGGTCACAGGGAAATCCTGG	0.423																																						dbGAP											0													68.0	65.0	66.0					3																	130134498		692	1591	2283	-	-	-	SO:0001583	missense	0			AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"""Collagens"""	26674	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 4"""	611916	"""collagen, type XXIX, alpha 1"""	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.4771G>A	3.37:g.130134498G>A	ENSP00000390895:p.Gly1591Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.G1591R	ENST00000432398.2	37	c.4771		3	.	.	.	.	.	.	.	.	.	.	G	11.72	1.723281	0.30503	.	.	ENSG00000172752	ENST00000432398;ENST00000265379	D;D	0.99637	-5.53;-6.29	4.17	4.17	0.49024	.	.	.	.	.	D	0.99725	0.9893	H	0.96460	3.825	0.30248	N	0.794378	D	0.89917	1.0	D	0.97110	1.0	D	0.97018	0.9741	9	0.87932	D	0	.	12.1679	0.54141	0.0:0.0:1.0:0.0	.	1591	A8TX70-2	.	R	1591	ENSP00000390895:G1591R;ENSP00000265379:G1591R	ENSP00000265379:G1591R	G	+	1	0	COL6A5	131617188	0.998000	0.40836	0.684000	0.30055	0.410000	0.31052	4.450000	0.60041	2.327000	0.79052	0.555000	0.69702	GGA	COL6A5	-	pfam_Collagen	ENSG00000172752		0.423	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	COL6A5	HGNC	protein_coding		49	0.00	0	G	NM_153264		130134498	130134498	+1	no_errors	ENST00000265379	ensembl	human	known	69_37n	missense	91	48.00	84	SNP	0.842	A
CROCCP2	84809	genome.wustl.edu	37	1	16950687	16950687	+	lincRNA	SNP	G	G	T	rs1762940		TCGA-AN-A0XR-01A-11D-A10G-09	TCGA-AN-A0XR-10A-01D-A117-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e7dc7492-3a84-49c7-8dea-8f508b53dc40	974aff12-3ec4-41e2-852a-837a513edd6c	g.chr1:16950687G>T	ENST00000412962.1	-	0	1000							Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											GCCCCTGGGGGCCCGTGCCTG	0.667																																						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.16950687G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	-	NULL	ENST00000412962.1	37	NULL		1																																																																																			CROCCP2	-	-	ENSG00000215908		0.667	CROCCP2-003	KNOWN	basic	lincRNA	CROCCP2	HGNC	lincRNA	OTTHUMT00000092784.1	12	0.00	0	G	NR_026752.1		16950687	16950687	-1	no_errors	ENST00000421700	ensembl	human	known	69_37n	rna	9	28.57	4	SNP	0.003	T
FAM186A	121006	genome.wustl.edu	37	12	50757068	50757068	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A0XR-01A-11D-A10G-09	TCGA-AN-A0XR-10A-01D-A117-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e7dc7492-3a84-49c7-8dea-8f508b53dc40	974aff12-3ec4-41e2-852a-837a513edd6c	g.chr12:50757068G>T	ENST00000327337.5	-	2	271	c.272C>A	c.(271-273)tCc>tAc	p.S91Y	FAM186A_ENST00000543111.1_Missense_Mutation_p.S91Y	NM_001145475.1	NP_001138947.1	A6NE01	F186A_HUMAN	family with sequence similarity 186, member A	91																	CCTTTCAGAGGACGAGTTAAA	0.373																																					NSCLC(138;1796 1887 12511 19463 37884)	dbGAP											0													242.0	209.0	219.0					12																	50757068		692	1591	2283	-	-	-	SO:0001583	missense	0				CCDS44878.1	12q13.13	2009-04-22			ENSG00000185958	ENSG00000185958			26980	protein-coding gene	gene with protein product							Standard	NM_001145475		Approved	LOC121006	uc001rwl.2	A6NE01	OTTHUMG00000167889	ENST00000327337.5:c.272C>A	12.37:g.50757068G>T	ENSP00000329995:p.Ser91Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.S91Y	ENST00000327337.5	37	c.272	CCDS44878.1	12	.	.	.	.	.	.	.	.	.	.	G	10.25	1.299100	0.23650	.	.	ENSG00000185958	ENST00000543111;ENST00000327337	T;T	0.11169	2.8;2.8	3.5	-4.4	0.03600	.	.	.	.	.	T	0.05090	0.0136	N	0.19112	0.55	0.09310	N	1	B	0.12013	0.005	B	0.09377	0.004	T	0.39057	-0.9632	9	0.52906	T	0.07	.	1.164	0.01811	0.2293:0.1108:0.1871:0.4728	.	91	A6NE01	F186A_HUMAN	Y	91	ENSP00000441337:S91Y;ENSP00000329995:S91Y	ENSP00000329995:S91Y	S	-	2	0	FAM186A	49043335	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.102000	0.10956	-0.996000	0.03455	0.555000	0.69702	TCC	FAM186A	-	NULL	ENSG00000185958		0.373	FAM186A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM186A	HGNC	protein_coding	OTTHUMT00000396838.1	231	0.00	0	G	XM_001718353		50757068	50757068	-1	no_errors	ENST00000327337	ensembl	human	known	69_37n	missense	349	37.90	213	SNP	0.000	T
EEA1	8411	genome.wustl.edu	37	12	93192857	93192857	+	Silent	SNP	A	A	T			TCGA-AN-A0XR-01A-11D-A10G-09	TCGA-AN-A0XR-10A-01D-A117-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e7dc7492-3a84-49c7-8dea-8f508b53dc40	974aff12-3ec4-41e2-852a-837a513edd6c	g.chr12:93192857A>T	ENST00000322349.8	-	21	3042	c.2778T>A	c.(2776-2778)tcT>tcA	p.S926S		NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	926					early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|synaptic vesicle to endosome fusion (GO:0016189)|vesicle fusion (GO:0006906)	axonal spine (GO:0044308)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|recycling endosome (GO:0055037)|serine-pyruvate aminotransferase complex (GO:0005969)	1-phosphatidylinositol binding (GO:0005545)|calmodulin binding (GO:0005516)|GTP-dependent protein binding (GO:0030742)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						TCAACTGATGAGAAGCCTGAA	0.318																																						dbGAP											0													53.0	48.0	50.0					12																	93192857		2203	4297	6500	-	-	-	SO:0001819	synonymous_variant	0			L40157	CCDS31874.1	12q22	2007-02-23	2007-02-23			ENSG00000102189		"""Zinc fingers, FYVE domain containing"""	3185	protein-coding gene	gene with protein product		605070	"""early endosome antigen 1, 162kD"""			7768953, 9697774	Standard	NM_003566		Approved	ZFYVE2	uc001tck.3	Q15075	OTTHUMG00000170110	ENST00000322349.8:c.2778T>A	12.37:g.93192857A>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q14221	Silent	SNP	pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Znf_C2H2	p.S926	ENST00000322349.8	37	c.2778	CCDS31874.1	12																																																																																			EEA1	-	NULL	ENSG00000102189		0.318	EEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EEA1	HGNC	protein_coding	OTTHUMT00000407304.1	94	0.00	0	A	NM_003566		93192857	93192857	-1	no_errors	ENST00000322349	ensembl	human	known	69_37n	silent	107	47.09	97	SNP	0.995	T
GATA3	2625	genome.wustl.edu	37	10	8115874	8115875	+	Frame_Shift_Ins	INS	-	-	G	rs144824106		TCGA-AN-A0XR-01A-11D-A10G-09	TCGA-AN-A0XR-10A-01D-A117-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e7dc7492-3a84-49c7-8dea-8f508b53dc40	974aff12-3ec4-41e2-852a-837a513edd6c	g.chr10:8115874_8115875insG	ENST00000346208.3	+	6	1675_1676	c.1220_1221insG	c.(1219-1224)tcgcccfs	p.P408fs	GATA3_ENST00000379328.3_Frame_Shift_Ins_p.P409fs|GATA3_ENST00000461472.1_3'UTR			P23771	GATA3_HUMAN	GATA binding protein 3	408					anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cardiac right ventricle morphogenesis (GO:0003215)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|cellular response to interferon-alpha (GO:0035457)|cellular response to interleukin-4 (GO:0071353)|cellular response to tumor necrosis factor (GO:0071356)|defense response (GO:0006952)|developmental growth (GO:0048589)|ear development (GO:0043583)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|interferon-gamma secretion (GO:0072643)|interleukin-4 secretion (GO:0072602)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lymphocyte migration (GO:0072676)|male gonad development (GO:0008584)|mast cell differentiation (GO:0060374)|mesenchymal to epithelial transition (GO:0060231)|mesonephros development (GO:0001823)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell motility (GO:2000146)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in mesonephros development (GO:2000607)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation (GO:2000703)|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation (GO:2000734)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|nephric duct morphogenesis (GO:0072178)|neuron migration (GO:0001764)|norepinephrine biosynthetic process (GO:0042421)|otic vesicle development (GO:0071599)|parathyroid gland development (GO:0060017)|parathyroid hormone secretion (GO:0035898)|pharyngeal system development (GO:0060037)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|post-embryonic development (GO:0009791)|pro-T cell differentiation (GO:0002572)|regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)|regulation of cellular response to X-ray (GO:2000683)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of establishment of cell polarity (GO:2000114)|regulation of histone H3-K27 methylation (GO:0061085)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to virus (GO:0009615)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|T cell receptor signaling pathway (GO:0050852)|T-helper 2 cell differentiation (GO:0045064)|thymic T cell selection (GO:0045061)|thymus development (GO:0048538)|TOR signaling (GO:0031929)|transcription from RNA polymerase II promoter (GO:0006366)|type IV hypersensitivity (GO:0001806)|ureter maturation (GO:0035799)|ureteric bud formation (GO:0060676)|uterus development (GO:0060065)|ventricular septum development (GO:0003281)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer sequence-specific DNA binding (GO:0001158)|HMG box domain binding (GO:0071837)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)	p.P409fs*>37(6)		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						AGCCACATCTCGCCCTTCAGCC	0.604			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""																															dbGAP		Rec	yes		10	10p15	2625	GATA binding protein 3	yes	E	6	Insertion - Frameshift(6)	breast(6)																																								-	-	-	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.1221dupG	10.37:g.8115875_8115875dupG	ENSP00000341619:p.Pro408fs	Somatic		WXS	Illumina GAIIx	Phase_IV	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.P409fs	ENST00000346208.3	37	c.1223_1224	CCDS7083.1	10																																																																																			GATA3	-	pirsf_TF_GATA-1/2/3	ENSG00000107485		0.604	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	GATA3	HGNC	protein_coding	OTTHUMT00000046719.1	111	0.00	0	-	NM_001002295		8115874	8115875	+1	no_errors	ENST00000379328	ensembl	human	known	69_37n	frame_shift_ins	116	34.83	62	INS	0.903:0.359	G
GNAT2	2780	genome.wustl.edu	37	1	110151266	110151266	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0XR-01A-11D-A10G-09	TCGA-AN-A0XR-10A-01D-A117-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e7dc7492-3a84-49c7-8dea-8f508b53dc40	974aff12-3ec4-41e2-852a-837a513edd6c	g.chr1:110151266C>T	ENST00000351050.3	-	4	634	c.448G>A	c.(448-450)Gac>Aac	p.D150N		NM_005272.3	NP_005263.1	P19087	GNAT2_HUMAN	guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2	150					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|detection of light stimulus involved in visual perception (GO:0050908)|G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|response to light intensity (GO:0009642)|retinal cone cell development (GO:0046549)|visual perception (GO:0007601)	heterotrimeric G-protein complex (GO:0005834)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled photoreceptor activity (GO:0008020)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	14		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0422)|Colorectal(144;0.108)|Epithelial(280;0.125)|all cancers(265;0.129)|LUSC - Lung squamous cell carcinoma(189;0.227)		GATGCGGAGTCATTAAGCTGG	0.527																																						dbGAP											0													189.0	152.0	165.0					1																	110151266		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC000233	CCDS803.1	1p13	2013-01-08			ENSG00000134183	ENSG00000134183			4394	protein-coding gene	gene with protein product		139340				8406495	Standard	NM_005272		Approved	ACHM4	uc001dya.3	P19087	OTTHUMG00000011639	ENST00000351050.3:c.448G>A	1.37:g.110151266C>T	ENSP00000251337:p.Asp150Asn	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I	p.D150N	ENST00000351050.3	37	c.448	CCDS803.1	1	.	.	.	.	.	.	.	.	.	.	C	32	5.126914	0.94429	.	.	ENSG00000134183	ENST00000351050	D	0.91464	-2.85	4.55	4.55	0.56014	G protein alpha subunit, helical insertion (2);	0.000000	0.85682	D	0.000000	D	0.96938	0.9000	H	0.97131	3.945	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98128	1.0429	10	0.87932	D	0	.	17.461	0.87620	0.0:1.0:0.0:0.0	.	150	P19087	GNAT2_HUMAN	N	150	ENSP00000251337:D150N	ENSP00000251337:D150N	D	-	1	0	GNAT2	109952789	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.562000	0.82300	2.513000	0.84729	0.655000	0.94253	GAC	GNAT2	-	pfam_Gprotein_alpha_su,superfamily_GproteinA_insert,smart_Gprotein_alpha_su	ENSG00000134183		0.527	GNAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNAT2	HGNC	protein_coding	OTTHUMT00000032181.1	155	0.00	0	C	NM_005272		110151266	110151266	-1	no_errors	ENST00000351050	ensembl	human	known	69_37n	missense	184	41.40	130	SNP	1.000	T
GNL3L	54552	genome.wustl.edu	37	X	54574726	54574726	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A0XR-01A-11D-A10G-09	TCGA-AN-A0XR-10A-01D-A117-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e7dc7492-3a84-49c7-8dea-8f508b53dc40	974aff12-3ec4-41e2-852a-837a513edd6c	g.chrX:54574726G>T	ENST00000336470.4	+	9	834	c.695G>T	c.(694-696)gGa>gTa	p.G232V	GNL3L_ENST00000360845.2_Missense_Mutation_p.G232V	NM_019067.5	NP_061940.1	Q9NVN8	GNL3L_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)-like	232	CP-type G. {ECO:0000255|PROSITE- ProRule:PRU01058}.				GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	30						GCCTGCTTTGGAGCTGAAAAC	0.493																																						dbGAP											0													94.0	80.0	84.0					X																	54574726		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK001475	CCDS14360.1	Xp11.22	2010-03-17			ENSG00000130119	ENSG00000130119			25553	protein-coding gene	gene with protein product		300873				12477932	Standard	NM_019067		Approved	FLJ10613	uc004dth.2	Q9NVN8	OTTHUMG00000021629	ENST00000336470.4:c.695G>T	X.37:g.54574726G>T	ENSP00000338573:p.Gly232Val	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,prints_GTP_binding_domain	p.G232V	ENST00000336470.4	37	c.695	CCDS14360.1	X	.	.	.	.	.	.	.	.	.	.	G	18.10	3.548487	0.65311	.	.	ENSG00000130119	ENST00000336470;ENST00000360845	T;T	0.18016	2.24;2.24	3.94	3.94	0.45596	.	0.000000	0.85682	D	0.000000	T	0.52725	0.1752	H	0.94542	3.55	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.68945	-0.5275	10	0.87932	D	0	-11.108	14.7057	0.69189	0.0:0.0:1.0:0.0	.	232	Q9NVN8	GNL3L_HUMAN	V	232	ENSP00000338573:G232V;ENSP00000354091:G232V	ENSP00000338573:G232V	G	+	2	0	GNL3L	54591451	1.000000	0.71417	1.000000	0.80357	0.597000	0.36814	8.556000	0.90697	1.899000	0.54978	0.538000	0.68166	GGA	GNL3L	-	NULL	ENSG00000130119		0.493	GNL3L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	GNL3L	HGNC	protein_coding	OTTHUMT00000056805.1	121	0.00	0	G	NM_019067		54574726	54574726	+1	no_errors	ENST00000336470	ensembl	human	known	69_37n	missense	196	40.84	136	SNP	1.000	T
GPLD1	2822	genome.wustl.edu	37	6	24456781	24456781	+	Missense_Mutation	SNP	C	C	T	rs1062498		TCGA-AN-A0XR-01A-11D-A10G-09	TCGA-AN-A0XR-10A-01D-A117-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e7dc7492-3a84-49c7-8dea-8f508b53dc40	974aff12-3ec4-41e2-852a-837a513edd6c	g.chr6:24456781C>T	ENST00000230036.1	-	13	1203	c.1093G>A	c.(1093-1095)Gtc>Atc	p.V365I		NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	365					cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to calcium ion (GO:0071277)|cellular response to cholesterol (GO:0071397)|cellular response to drug (GO:0035690)|cellular response to insulin stimulus (GO:0032869)|cellular response to pH (GO:0071467)|cellular response to triglyceride (GO:0071401)|chondrocyte differentiation (GO:0002062)|complement receptor mediated signaling pathway (GO:0002430)|GPI anchor release (GO:0006507)|hematopoietic stem cell migration (GO:0035701)|hematopoietic stem cell migration to bone marrow (GO:0097241)|insulin receptor signaling pathway (GO:0008286)|negative regulation of cell proliferation (GO:0008285)|negative regulation of triglyceride catabolic process (GO:0010897)|ossification (GO:0001503)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of high-density lipoprotein particle clearance (GO:0010983)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of secretion (GO:0051047)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cellular response to insulin stimulus (GO:1900076)|response to glucose (GO:0009749)|transepithelial transport (GO:0070633)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|proteinaceous extracellular matrix (GO:0005578)	glycosylphosphatidylinositol phospholipase D activity (GO:0004621)|phospholipase D activity (GO:0004630)|sodium channel regulator activity (GO:0017080)			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						GGGCTGGAGACGTGCTTTTGT	0.393																																						dbGAP											0													204.0	197.0	199.0					6																	24456781		2203	4300	6503	-	-	-	SO:0001583	missense	0			L11701	CCDS4553.1	6p22.1	2008-02-05			ENSG00000112293	ENSG00000112293			4459	protein-coding gene	gene with protein product		602515				11072085	Standard	NM_001503		Approved		uc003ned.2	P80108	OTTHUMG00000016104	ENST00000230036.1:c.1093G>A	6.37:g.24456781C>T	ENSP00000230036:p.Val365Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15127|Q15128|Q2M2F2|Q5T3Y0|Q7Z6T8|Q8TCV0|Q8WW82|Q96ID6|Q9H167|Q9H4M1|Q9UJC9	Missense_Mutation	SNP	pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Gprt_PLipase_D	p.V365I	ENST00000230036.1	37	c.1093	CCDS4553.1	6	.	.	.	.	.	.	.	.	.	.	C	0.113	-1.136146	0.01742	.	.	ENSG00000112293	ENST00000230036	T	0.64085	-0.08	5.35	-0.0293	0.13918	.	0.593009	0.16806	N	0.198796	T	0.20577	0.0495	N	0.25201	0.72	0.24403	N	0.994693	B	0.17038	0.02	B	0.10450	0.005	T	0.33624	-0.9861	10	0.13470	T	0.59	-12.739	11.9399	0.52894	0.0:0.4997:0.0:0.5003	rs1062498;rs1062498	365	P80108	PHLD_HUMAN	I	365	ENSP00000230036:V365I	ENSP00000230036:V365I	V	-	1	0	GPLD1	24564760	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.156000	0.01283	-0.500000	0.06614	-0.797000	0.03246	GTC	GPLD1	-	NULL	ENSG00000112293		0.393	GPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPLD1	HGNC	protein_coding	OTTHUMT00000043315.1	125	0.00	0	C	NM_001503		24456781	24456781	-1	no_errors	ENST00000230036	ensembl	human	known	69_37n	missense	230	41.33	162	SNP	0.001	T
HDDC2	51020	genome.wustl.edu	37	6	125614019	125614019	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0XR-01A-11D-A10G-09	TCGA-AN-A0XR-10A-01D-A117-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e7dc7492-3a84-49c7-8dea-8f508b53dc40	974aff12-3ec4-41e2-852a-837a513edd6c	g.chr6:125614019C>T	ENST00000398153.2	-	4	388	c.346G>A	c.(346-348)Gac>Aac	p.D116N	HDDC2_ENST00000368377.4_Missense_Mutation_p.D82N|HDDC2_ENST00000608295.1_Intron	NM_016063.2	NP_057147.2	Q7Z4H3	HDDC2_HUMAN	HD domain containing 2	116	HD.					extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)				endometrium(1)|large_intestine(1)|lung(4)	6			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0186)		TTTCTGAGGTCCTCTGGTAGG	0.353																																						dbGAP											0													145.0	141.0	142.0					6																	125614019		1833	4092	5925	-	-	-	SO:0001583	missense	0			AF151888	CCDS43503.1	6q13-q24.3	2008-02-05	2005-08-22	2005-08-22	ENSG00000111906	ENSG00000111906			21078	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 74"""	C6orf74		10810093	Standard	NM_016063		Approved	CGI-130, dJ167O5.2	uc003qaa.1	Q7Z4H3	OTTHUMG00000015506	ENST00000398153.2:c.346G>A	6.37:g.125614019C>T	ENSP00000381220:p.Asp116Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TDQ4|Q6NZ49|Q9BTT2|Q9BV31|Q9Y3D1	Missense_Mutation	SNP	pfam_HD_domain,smart_HD/PDEase_dom	p.D116N	ENST00000398153.2	37	c.346	CCDS43503.1	6	.	.	.	.	.	.	.	.	.	.	C	11.04	1.522844	0.27211	.	.	ENSG00000111906	ENST00000318787;ENST00000398153;ENST00000368377	T;T;T	0.44482	0.92;0.92;0.92	5.52	4.66	0.58398	Metal-dependent phosphohydrolase, HD domain (1);Metal-dependent phosphohydrolase, HD subdomain (1);HD domain (1);	0.246659	0.47455	N	0.000232	T	0.20780	0.0500	M	0.62088	1.915	0.40730	D	0.982739	B	0.12013	0.005	B	0.15052	0.012	T	0.10800	-1.0614	10	0.34782	T	0.22	.	6.458	0.21940	0.0:0.6897:0.1502:0.16	.	116	Q7Z4H3	HDDC2_HUMAN	N	82;116;82	ENSP00000316242:D82N;ENSP00000381220:D116N;ENSP00000357361:D82N	ENSP00000316242:D82N	D	-	1	0	HDDC2	125655718	0.358000	0.24947	1.000000	0.80357	0.374000	0.29953	3.483000	0.53194	1.462000	0.47948	-0.150000	0.13652	GAC	HDDC2	-	pfam_HD_domain,smart_HD/PDEase_dom	ENSG00000111906		0.353	HDDC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HDDC2	HGNC	protein_coding	OTTHUMT00000472493.1	175	0.00	0	C	NM_016063		125614019	125614019	-1	no_errors	ENST00000398153	ensembl	human	known	69_37n	missense	190	43.28	145	SNP	0.998	T
INTS8	55656	genome.wustl.edu	37	8	95892348	95892348	+	Missense_Mutation	SNP	C	C	G			TCGA-AN-A0XR-01A-11D-A10G-09	TCGA-AN-A0XR-10A-01D-A117-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e7dc7492-3a84-49c7-8dea-8f508b53dc40	974aff12-3ec4-41e2-852a-837a513edd6c	g.chr8:95892348C>G	ENST00000523731.1	+	27	3007	c.2874C>G	c.(2872-2874)atC>atG	p.I958M	INTS8_ENST00000447247.1_Missense_Mutation_p.I941M|CCNE2_ENST00000520509.1_3'UTR	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN	integrator complex subunit 8	958					snRNA processing (GO:0016180)	integrator complex (GO:0032039)				breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					TTTGGAAGATCAAAGCCATCG	0.393																																						dbGAP											0													95.0	94.0	94.0					8																	95892348		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK091278	CCDS34925.1	8q22.1	2007-05-03	2006-03-15	2006-03-15	ENSG00000164941	ENSG00000164941			26048	protein-coding gene	gene with protein product		611351	"""chromosome 8 open reading frame 52"""	C8orf52		16239144	Standard	NM_017864		Approved	FLJ20530, INT8, MGC131633	uc003yhb.4	Q75QN2	OTTHUMG00000164695	ENST00000523731.1:c.2874C>G	8.37:g.95892348C>G	ENSP00000430338:p.Ile958Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RN92|Q5RKZ3|Q6P1R5|Q7Z314|Q9NVS6|Q9NWY7	Nonsense_Mutation	SNP	NULL	p.S763*	ENST00000523731.1	37	c.2288	CCDS34925.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	2.242|2.242	-0.373582|-0.373582	0.05034|0.05034	.|.	.|.	ENSG00000164941|ENSG00000164941	ENST00000523731;ENST00000447247|ENST00000520526	T;T|.	0.36878|.	1.23;1.23|.	6.02|6.02	1.71|1.71	0.24356|0.24356	.|.	0.085246|.	0.85682|.	D|.	0.000000|.	T|.	0.52125|.	0.1715|.	L|L	0.47716|0.47716	1.5|1.5	0.80722|0.80722	D|D	1|1	B|.	0.28850|.	0.225|.	B|.	0.26517|.	0.07|.	T|.	0.39623|.	-0.9605|.	10|.	0.56958|.	D|.	0.05|.	-11.3966|-11.3966	5.7158|5.7158	0.17960|0.17960	0.4189:0.3775:0.0:0.2036|0.4189:0.3775:0.0:0.2036	.|.	958|.	Q75QN2|.	INT8_HUMAN|.	M|X	958;941|763	ENSP00000430338:I958M;ENSP00000398203:I941M|.	ENSP00000398203:I941M|.	I|S	+|+	3|2	3|0	INTS8|INTS8	95961524|95961524	0.354000|0.354000	0.24912|0.24912	1.000000|1.000000	0.80357|0.80357	0.077000|0.077000	0.17291|0.17291	-0.321000|-0.321000	0.08018|0.08018	0.417000|0.417000	0.25871|0.25871	-0.152000|-0.152000	0.13540|0.13540	ATC|TCA	INTS8	-	NULL	ENSG00000164941		0.393	INTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS8	HGNC	protein_coding	OTTHUMT00000379794.1	100	0.00	0	C	NM_017864		95892348	95892348	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000520526	ensembl	human	novel	69_37n	nonsense	150	36.97	88	SNP	0.897	G
IQSEC3	440073	genome.wustl.edu	37	12	247616	247616	+	Missense_Mutation	SNP	A	A	T			TCGA-AN-A0XR-01A-11D-A10G-09	TCGA-AN-A0XR-10A-01D-A117-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e7dc7492-3a84-49c7-8dea-8f508b53dc40	974aff12-3ec4-41e2-852a-837a513edd6c	g.chr12:247616A>T	ENST00000538872.1	+	4	1205	c.1087A>T	c.(1087-1089)Agc>Tgc	p.S363C	IQSEC3_ENST00000326261.4_Missense_Mutation_p.S363C|RP11-598F7.4_ENST00000505893.2_RNA|IQSEC3_ENST00000382841.2_Missense_Mutation_p.S60C|RP11-598F7.4_ENST00000508953.2_RNA			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	363					actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		CACGGCCGAGAGCCTGGCGGC	0.687																																						dbGAP											0													18.0	18.0	18.0					12																	247616		2197	4299	6496	-	-	-	SO:0001583	missense	0			AB029033	CCDS31725.1, CCDS53728.1	12p13.33	2014-03-18			ENSG00000120645	ENSG00000120645			29193	protein-coding gene	gene with protein product		612118				10470851	Standard	NM_001170738		Approved	KIAA1110, MGC30156	uc001qhw.2	Q9UPP2	OTTHUMG00000167975	ENST00000538872.1:c.1087A>T	12.37:g.247616A>T	ENSP00000437554:p.Ser363Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NIF2|A6NKV9|Q8TB43	Missense_Mutation	SNP	pfam_Sec7,superfamily_Sec7,smart_Sec7,pfscan_IQ_motif_EF-hand-BS,pfscan_Sec7	p.S363C	ENST00000538872.1	37	c.1087	CCDS53728.1	12	.	.	.	.	.	.	.	.	.	.	A	15.52	2.858895	0.51376	.	.	ENSG00000120645	ENST00000538872;ENST00000326261;ENST00000382841	T;T;T	0.77750	-1.12;-1.12;-1.12	5.04	0.0872	0.14449	.	0.373276	0.36374	N	0.002636	T	0.76033	0.3931	L	0.50333	1.59	0.35531	D	0.802223	P;D	0.54964	0.948;0.969	P;P	0.52758	0.514;0.708	T	0.78104	-0.2334	10	0.62326	D	0.03	.	8.7575	0.34654	0.7003:0.0:0.2996:0.0	.	363;60	Q9UPP2;Q9UPP2-2	IQEC3_HUMAN;.	C	363;363;60	ENSP00000437554:S363C;ENSP00000315662:S363C;ENSP00000372292:S60C	ENSP00000315662:S363C	S	+	1	0	IQSEC3	117877	1.000000	0.71417	0.996000	0.52242	0.243000	0.25628	3.369000	0.52365	-0.005000	0.14395	-0.464000	0.05259	AGC	IQSEC3	-	NULL	ENSG00000120645		0.687	IQSEC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IQSEC3	HGNC	protein_coding	OTTHUMT00000397382.3	18	0.00	0	A	XM_495902		247616	247616	+1	no_errors	ENST00000326261	ensembl	human	known	69_37n	missense	14	56.25	18	SNP	0.999	T
KIF17	57576	genome.wustl.edu	37	1	21014005	21014005	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0XR-01A-11D-A10G-09	TCGA-AN-A0XR-10A-01D-A117-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e7dc7492-3a84-49c7-8dea-8f508b53dc40	974aff12-3ec4-41e2-852a-837a513edd6c	g.chr1:21014005G>A	ENST00000247986.2	-	8	2124	c.1814C>T	c.(1813-1815)cCc>cTc	p.P605L	KIF17_ENST00000490034.1_Intron|KIF17_ENST00000375044.1_Missense_Mutation_p.P505L|KIF17_ENST00000400463.3_Missense_Mutation_p.P605L			Q9P2E2	KIF17_HUMAN	kinesin family member 17	605					ATP catabolic process (GO:0006200)|cell projection organization (GO:0030030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|protein complex localization (GO:0031503)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		CCCCTGCAGGGGCACCTCCTG	0.652																																						dbGAP											0													38.0	41.0	40.0					1																	21014005		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB037826	CCDS213.1, CCDS44079.1, CCDS72722.1	1p36.13	2012-08-01			ENSG00000117245	ENSG00000117245		"""Kinesins"""	19167	protein-coding gene	gene with protein product	"""kinesin-like protein KIF17"", ""KIF3-related motor protein"", ""KIF17 variant protein"""	605037				10846156	Standard	XR_241202		Approved	KIAA1405, KIF3X, KIF17B, OSM-3, KLP-2	uc001bdr.4	Q9P2E2	OTTHUMG00000002863	ENST00000247986.2:c.1814C>T	1.37:g.21014005G>A	ENSP00000247986:p.Pro605Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A3Q7|A2A3Q8|O95077|Q53YS6|Q5VWA9|Q6GSA8|Q8N411	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.P605L	ENST00000247986.2	37	c.1814	CCDS213.1	1	.	.	.	.	.	.	.	.	.	.	G	10.39	1.335619	0.24253	.	.	ENSG00000117245	ENST00000375044;ENST00000400463;ENST00000247986	T;T;T	0.71934	-0.61;-0.48;-0.48	4.43	2.52	0.30459	.	0.579344	0.13005	U	0.421312	T	0.57446	0.2054	L	0.36672	1.1	0.09310	N	1	B;B	0.21606	0.058;0.035	B;B	0.19148	0.024;0.016	T	0.51593	-0.8686	10	0.62326	D	0.03	.	6.1409	0.20259	0.1031:0.1902:0.7066:0.0	.	605;605	Q9P2E2-3;Q9P2E2	.;KIF17_HUMAN	L	505;605;605	ENSP00000364184:P505L;ENSP00000383311:P605L;ENSP00000247986:P605L	ENSP00000247986:P605L	P	-	2	0	KIF17	20886592	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	0.370000	0.20433	0.594000	0.29761	0.563000	0.77884	CCC	KIF17	-	NULL	ENSG00000117245		0.652	KIF17-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIF17	HGNC	protein_coding	OTTHUMT00000276995.1	19	0.00	0	G	NM_020816		21014005	21014005	-1	no_errors	ENST00000247986	ensembl	human	known	69_37n	missense	22	26.67	8	SNP	0.001	A
MAP2K4	6416	genome.wustl.edu	37	17	11998971	11998972	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AN-A0XR-01A-11D-A10G-09	TCGA-AN-A0XR-10A-01D-A117-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e7dc7492-3a84-49c7-8dea-8f508b53dc40	974aff12-3ec4-41e2-852a-837a513edd6c	g.chr17:11998971_11998972insC	ENST00000353533.5	+	4	536_537	c.473_474insC	c.(472-477)tgcccafs	p.CP158fs	MAP2K4_ENST00000415385.3_Frame_Shift_Ins_p.CP169fs|MAP2K4_ENST00000581941.1_3'UTR	NM_003010.2	NP_003001.1	P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	158	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|cellular response to sorbitol (GO:0072709)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of DNA replication (GO:0045740)|positive regulation of neuron apoptotic process (GO:0043525)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|nucleus (GO:0005634)|perikaryon (GO:0043204)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.0?(10)|p.?(1)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		AGTAGTGATTGCCCATACATTG	0.371			"""D, Mis, N"""		"""pancreatic, breast, colorectal"""																																	dbGAP		Rec	yes		17	17p11.2	6416	mitogen-activated protein kinase kinase 4		E	11	Whole gene deletion(10)|Unknown(1)	ovary(4)|breast(4)|biliary_tract(1)|large_intestine(1)|pancreas(1)																																								-	-	-	SO:0001589	frameshift_variant	0			L36870	CCDS11162.1, CCDS62095.1	17p12	2012-03-23			ENSG00000065559	ENSG00000065559	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6844	protein-coding gene	gene with protein product		601335		SERK1		7716521	Standard	NM_003010		Approved	MEK4, JNKK1, PRKMK4, MKK4	uc002gnj.3	P45985		ENST00000353533.5:c.476dupC	17.37:g.11998974_11998974dupC	ENSP00000262445:p.Cys158fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R7N7|B3KYB2|D3DTS5|Q5U0B8|Q6FHX4|Q6P9H2|Q6PIE6	Frame_Shift_Ins	INS	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.Y171fs	ENST00000353533.5	37	c.506_507	CCDS11162.1	17																																																																																			MAP2K4	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000065559		0.371	MAP2K4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP2K4	HGNC	protein_coding	OTTHUMT00000441226.1	194	0.00	0	-			11998971	11998972	+1	no_errors	ENST00000415385	ensembl	human	known	69_37n	frame_shift_ins	117	65.79	225	INS	1.000:1.000	C
MAT2B	27430	genome.wustl.edu	37	5	162943532	162943532	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A0XR-01A-11D-A10G-09	TCGA-AN-A0XR-10A-01D-A117-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e7dc7492-3a84-49c7-8dea-8f508b53dc40	974aff12-3ec4-41e2-852a-837a513edd6c	g.chr5:162943532G>T	ENST00000321757.6	+	5	674	c.535G>T	c.(535-537)Gtt>Ttt	p.V179F	MAT2B_ENST00000280969.5_Missense_Mutation_p.V168F|MAT2B_ENST00000518095.1_Missense_Mutation_p.V179F	NM_013283.3	NP_037415.1	Q9NZL9	MAT2B_HUMAN	methionine adenosyltransferase II, beta	179					cellular nitrogen compound metabolic process (GO:0034641)|extracellular polysaccharide biosynthetic process (GO:0045226)|methylation (GO:0032259)|one-carbon metabolic process (GO:0006730)|regulation of catalytic activity (GO:0050790)|S-adenosylmethionine biosynthetic process (GO:0006556)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|methionine adenosyltransferase complex (GO:0048269)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	dTDP-4-dehydrorhamnose reductase activity (GO:0008831)|enzyme binding (GO:0019899)|methionine adenosyltransferase regulator activity (GO:0048270)			endometrium(3)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)	14	Renal(175;0.000281)	Medulloblastoma(196;0.0208)|all_neural(177;0.0765)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.027)|OV - Ovarian serous cystadenocarcinoma(192;0.0406)|Epithelial(171;0.0797)	L-Methionine(DB00134)	AGGAGCTGCTGTTTTGAGGAT	0.343																																						dbGAP											0													75.0	76.0	76.0					5																	162943532		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF182814	CCDS4364.1, CCDS4365.1	5q34-q35	2011-09-14			ENSG00000038274	ENSG00000038274		"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	6905	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 23E, member 1"""	605527				9055605, 10644686, 19027726	Standard	NM_182796		Approved	MATIIbeta, SDR23E1	uc003lzk.4	Q9NZL9	OTTHUMG00000130379	ENST00000321757.6:c.535G>T	5.37:g.162943532G>T	ENSP00000325425:p.Val179Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R5Y6|Q1WAI7|Q27J92|Q3LIE8|Q567T7|Q6NYC7|Q9BS89|Q9H3E1|Q9UJ54	Missense_Mutation	SNP	pfam_dTDP_dehydrorham_reduct,pfam_Epimerase_deHydtase,pfam_Polysac_CapD-like,pfam_3Beta_OHSteriod_DH/Estase	p.V179F	ENST00000321757.6	37	c.535	CCDS4365.1	5	.	.	.	.	.	.	.	.	.	.	G	21.6	4.171278	0.78452	.	.	ENSG00000038274	ENST00000280969;ENST00000321757;ENST00000421814;ENST00000518095;ENST00000415433	T;T;T;T	0.56941	0.43;0.43;0.43;0.43	5.43	5.43	0.79202	NAD(P)-binding domain (1);	0.113797	0.64402	D	0.000013	T	0.79476	0.4452	M	0.91459	3.21	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.74674	0.982;0.978;0.984	D	0.83768	0.0218	10	0.87932	D	0	.	19.6016	0.95566	0.0:0.0:1.0:0.0	.	179;179;168	Q9NZL9-3;Q9NZL9;Q9NZL9-2	.;MAT2B_HUMAN;.	F	168;179;114;179;73	ENSP00000280969:V168F;ENSP00000325425:V179F;ENSP00000397371:V114F;ENSP00000428046:V179F	ENSP00000280969:V168F	V	+	1	0	MAT2B	162876110	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.172000	0.65003	2.718000	0.92993	0.650000	0.86243	GTT	MAT2B	-	pfam_dTDP_dehydrorham_reduct,pfam_Epimerase_deHydtase,pfam_3Beta_OHSteriod_DH/Estase	ENSG00000038274		0.343	MAT2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MAT2B	HGNC	protein_coding	OTTHUMT00000252749.2	131	0.00	0	G	NM_013283		162943532	162943532	+1	no_errors	ENST00000321757	ensembl	human	known	69_37n	missense	269	35.34	147	SNP	1.000	T
OR2Z1	284383	genome.wustl.edu	37	19	8841539	8841539	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0XR-01A-11D-A10G-09	TCGA-AN-A0XR-10A-01D-A117-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e7dc7492-3a84-49c7-8dea-8f508b53dc40	974aff12-3ec4-41e2-852a-837a513edd6c	g.chr19:8841539G>A	ENST00000324060.2	+	1	224	c.149G>A	c.(148-150)cGt>cAt	p.R50H		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	50						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TTCTTGATCCGTGTGGACTCC	0.547																																						dbGAP											0													161.0	141.0	148.0					19																	8841539		2203	4300	6503	-	-	-	SO:0001583	missense	0			AC008753	CCDS32895.1	19p13.2	2013-09-20	2002-11-13		ENSG00000181733	ENSG00000181733		"""GPCR / Class A : Olfactory receptors"""	15391	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily Z, member 2"""	OR2Z2			Standard	NM_001004699		Approved		uc010xkg.2	Q8NG97	OTTHUMG00000182195	ENST00000324060.2:c.149G>A	19.37:g.8841539G>A	ENSP00000316284:p.Arg50His	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EH50|Q6IFK0|Q96R25	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.R50H	ENST00000324060.2	37	c.149	CCDS32895.1	19	.	.	.	.	.	.	.	.	.	.	G	3.114	-0.182007	0.06340	.	.	ENSG00000181733	ENST00000324060	T	0.01076	5.37	4.23	-6.56	0.01848	GPCR, rhodopsin-like superfamily (1);	2.774980	0.00817	N	0.001550	T	0.00784	0.0026	N	0.10972	0.075	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.48614	-0.9020	10	0.06625	T	0.88	.	10.991	0.47549	0.5863:0.0:0.4137:0.0	.	50	Q8NG97	OR2Z1_HUMAN	H	50	ENSP00000316284:R50H	ENSP00000316284:R50H	R	+	2	0	OR2Z1	8702539	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.778000	0.04664	-1.410000	0.02035	-1.150000	0.01838	CGT	OR2Z1	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000181733		0.547	OR2Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2Z1	HGNC	protein_coding	OTTHUMT00000459954.1	121	0.82	1	G			8841539	8841539	+1	no_errors	ENST00000324060	ensembl	human	known	69_37n	missense	214	44.42	171	SNP	0.000	A
NWD1	284434	genome.wustl.edu	37	19	16860188	16860188	+	Silent	SNP	G	G	A			TCGA-AN-A0XR-01A-11D-A10G-09	TCGA-AN-A0XR-10A-01D-A117-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e7dc7492-3a84-49c7-8dea-8f508b53dc40	974aff12-3ec4-41e2-852a-837a513edd6c	g.chr19:16860188G>A	ENST00000552788.1	+	4	735	c.735G>A	c.(733-735)ccG>ccA	p.P245P	NWD1_ENST00000339803.6_Silent_p.P110P|NWD1_ENST00000523826.1_Silent_p.P39P|NWD1_ENST00000379808.3_Silent_p.P245P|NWD1_ENST00000524140.2_Silent_p.P245P|NWD1_ENST00000549814.1_Silent_p.P245P			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	245							ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						ACCGCCTGCCGTGGAGCCGCG	0.597																																						dbGAP											0													48.0	46.0	47.0					19																	16860188		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"""WD repeat domain containing"""	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.735G>A	19.37:g.16860188G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	C9J021|Q68CT3	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.P245	ENST00000552788.1	37	c.735		19																																																																																			NWD1	-	NULL	ENSG00000188039		0.597	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	NWD1	HGNC	protein_coding	OTTHUMT00000403569.1	35	0.00	0	G	NM_001007525		16860188	16860188	+1	no_errors	ENST00000379808	ensembl	human	known	69_37n	silent	26	50.94	27	SNP	0.558	A
PCDHAC1	56135	genome.wustl.edu	37	5	140307132	140307132	+	Missense_Mutation	SNP	G	G	C			TCGA-AN-A0XR-01A-11D-A10G-09	TCGA-AN-A0XR-10A-01D-A117-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e7dc7492-3a84-49c7-8dea-8f508b53dc40	974aff12-3ec4-41e2-852a-837a513edd6c	g.chr5:140307132G>C	ENST00000253807.2	+	1	655	c.655G>C	c.(655-657)Gtc>Ctc	p.V219L	PCDHA11_ENST00000398640.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.V219L|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018898.3	NP_061721.2	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1	219	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGACGCACAAGTCACCATCAT	0.587																																						dbGAP											0													38.0	42.0	41.0					5																	140307132		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF152473	CCDS4241.1	5q31	2010-11-26			ENSG00000248383	ENSG00000248383		"""Cadherins / Protocadherins : Clustered"""	8676	other	complex locus constituent	"""PCDH-ALPHA-C1"""	606320				10380929	Standard	NM_018898		Approved			Q9H158	OTTHUMG00000129603	ENST00000253807.2:c.655G>C	5.37:g.140307132G>C	ENSP00000253807:p.Val219Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9Y5F5|Q9Y5I5	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V219L	ENST00000253807.2	37	c.655	CCDS4241.1	5	.	.	.	.	.	.	.	.	.	.	G	10.38	1.335363	0.24253	.	.	ENSG00000248383	ENST00000409700;ENST00000253807	T;T	0.25250	1.81;1.81	5.34	4.47	0.54385	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.25938	0.0632	L	0.31804	0.96	0.26237	N	0.978926	B;P	0.34522	0.364;0.455	B;B	0.42692	0.189;0.395	T	0.20806	-1.0264	9	0.62326	D	0.03	.	10.0866	0.42421	0.1531:0.0:0.8469:0.0	.	219;219	Q9H158;Q9H158-2	PCDC1_HUMAN;.	L	219	ENSP00000386356:V219L;ENSP00000253807:V219L	ENSP00000253807:V219L	V	+	1	0	PCDHAC1	140287316	0.979000	0.34478	0.917000	0.36280	0.094000	0.18550	2.067000	0.41461	1.237000	0.43756	0.561000	0.74099	GTC	PCDHAC1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000248383		0.587	PCDHAC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDHAC1	HGNC	protein_coding	OTTHUMT00000251798.1	26	0.00	0	G	NM_018898		140307132	140307132	+1	no_errors	ENST00000253807	ensembl	human	known	69_37n	missense	23	47.73	21	SNP	0.863	C
PLD5	200150	genome.wustl.edu	37	1	242253346	242253346	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A0XR-01A-11D-A10G-09	TCGA-AN-A0XR-10A-01D-A117-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e7dc7492-3a84-49c7-8dea-8f508b53dc40	974aff12-3ec4-41e2-852a-837a513edd6c	g.chr1:242253346G>T	ENST00000536534.2	-	10	1662	c.1421C>A	c.(1420-1422)gCa>gAa	p.A474E	PLD5_ENST00000442594.2_Missense_Mutation_p.A382E|PLD5_ENST00000427495.1_Missense_Mutation_p.A412E			Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	474						integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			CCTCACATCTGCCTGGTTGAT	0.413																																						dbGAP											0													173.0	160.0	164.0					1																	242253346		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK098092	CCDS1621.1, CCDS1621.2, CCDS55692.1	1q43	2008-02-05			ENSG00000180287	ENSG00000180287			26879	protein-coding gene	gene with protein product							Standard	NM_001195811		Approved	FLJ40773	uc001hzn.2	Q8N7P1	OTTHUMG00000039867	ENST00000536534.2:c.1421C>A	1.37:g.242253346G>T	ENSP00000440896:p.Ala474Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	A1KXV0|B7Z324|Q494U9|Q8NB22	Missense_Mutation	SNP	smart_PLipase_D/transphosphatidylase	p.A474E	ENST00000536534.2	37	c.1421	CCDS1621.2	1	.	.	.	.	.	.	.	.	.	.	G	12.47	1.947780	0.34377	.	.	ENSG00000180287	ENST00000427495;ENST00000442594;ENST00000536534	T;T;T	0.44083	0.94;0.94;0.93	5.77	2.93	0.34026	.	0.247838	0.41194	D	0.000929	T	0.38931	0.1059	M	0.66939	2.045	0.36084	D	0.842956	P;P;P	0.51933	0.949;0.915;0.949	P;B;P	0.45753	0.492;0.366;0.492	T	0.48990	-0.8985	10	0.08381	T	0.77	-2.9062	9.1652	0.37048	0.2147:0.0:0.7853:0.0	.	382;474;412	Q8N7P1-2;Q8N7P1;Q8N7P1-4	.;PLD5_HUMAN;.	E	412;382;474	ENSP00000401285:A412E;ENSP00000414188:A382E;ENSP00000440896:A474E	ENSP00000401285:A412E	A	-	2	0	PLD5	240319969	0.999000	0.42202	0.981000	0.43875	0.863000	0.49368	1.083000	0.30815	0.377000	0.24735	0.655000	0.94253	GCA	PLD5	-	NULL	ENSG00000180287		0.413	PLD5-006	KNOWN	basic|appris_principal|CCDS	protein_coding	PLD5	HGNC	protein_coding	OTTHUMT00000397213.2	209	0.00	0	G	NM_152666		242253346	242253346	-1	no_errors	ENST00000536534	ensembl	human	known	69_37n	missense	462	30.73	205	SNP	1.000	T
PRMT7	54496	genome.wustl.edu	37	16	68389705	68389705	+	Missense_Mutation	SNP	C	C	G			TCGA-AN-A0XR-01A-11D-A10G-09	TCGA-AN-A0XR-10A-01D-A117-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e7dc7492-3a84-49c7-8dea-8f508b53dc40	974aff12-3ec4-41e2-852a-837a513edd6c	g.chr16:68389705C>G	ENST00000339507.5	+	17	2560	c.1730C>G	c.(1729-1731)cCc>cGc	p.P577R	PRMT7_ENST00000348497.4_Missense_Mutation_p.P429R|PRMT7_ENST00000449359.3_Missense_Mutation_p.P527R|PRMT7_ENST00000441236.1_Missense_Mutation_p.P527R			Q9NVM4	ANM7_HUMAN	protein arginine methyltransferase 7	577	SAM-dependent MTase PRMT-type 2. {ECO:0000255|PROSITE-ProRule:PRU01015}.				cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|histone arginine methylation (GO:0034969)|histone methylation (GO:0016571)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|peptidyl-arginine methylation, to symmetrical-dimethyl arginine (GO:0019918)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of protein binding (GO:0043393)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	[myelin basic protein]-arginine N-methyltransferase activity (GO:0016277)|histone binding (GO:0042393)|histone methyltransferase activity (H4-R3 specific) (GO:0044020)|histone-arginine N-methyltransferase activity (GO:0008469)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)|protein-arginine omega-N symmetric methyltransferase activity (GO:0035243)|ribonucleoprotein complex binding (GO:0043021)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|urinary_tract(1)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629)		CTCTCCGAGCCCTGGCAGATC	0.672																																						dbGAP											0													37.0	34.0	35.0					16																	68389705		2198	4300	6498	-	-	-	SO:0001583	missense	0			AK001502	CCDS10866.1, CCDS54033.1	16q22.1	2008-02-05			ENSG00000132600	ENSG00000132600		"""Protein arginine methyltransferases"""	25557	protein-coding gene	gene with protein product		610087				15044439	Standard	NM_001184824		Approved	FLJ10640, KIAA1933	uc002evy.2	Q9NVM4	OTTHUMG00000137556	ENST00000339507.5:c.1730C>G	16.37:g.68389705C>G	ENSP00000343103:p.Pro577Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KPR0|B3KUG9|B4E379|Q96PV5|Q9H9L0	Missense_Mutation	SNP	pfam_Ribosomal-L11_MeTrfase_PrmA,pirsf_Arg_MeTrfase_PRMT7	p.P577R	ENST00000339507.5	37	c.1730	CCDS10866.1	16	.	.	.	.	.	.	.	.	.	.	C	15.48	2.847291	0.51164	.	.	ENSG00000132600	ENST00000449359;ENST00000441236;ENST00000348497;ENST00000339507	T;T;T;T	0.25579	1.79;1.79;1.79;1.79	5.95	5.95	0.96441	.	0.252622	0.47455	D	0.000225	T	0.50309	0.1608	M	0.85041	2.73	0.09310	N	1	P;B;P	0.52463	0.953;0.441;0.923	P;B;P	0.55749	0.783;0.4;0.675	T	0.52660	-0.8546	10	0.66056	D	0.02	-16.6998	15.8855	0.79244	0.0:1.0:0.0:0.0	.	527;429;577	Q9NVM4-3;Q9NVM4-2;Q9NVM4	.;.;ANM7_HUMAN	R	527;527;429;577	ENSP00000414716:P527R;ENSP00000409324:P527R;ENSP00000345775:P429R;ENSP00000343103:P577R	ENSP00000343103:P577R	P	+	2	0	PRMT7	66947206	0.951000	0.32395	0.016000	0.15963	0.002000	0.02628	5.418000	0.66429	2.825000	0.97269	0.655000	0.94253	CCC	PRMT7	-	pirsf_Arg_MeTrfase_PRMT7	ENSG00000132600		0.672	PRMT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRMT7	HGNC	protein_coding	OTTHUMT00000268892.3	29	0.00	0	C	NM_019023		68389705	68389705	+1	no_errors	ENST00000339507	ensembl	human	known	69_37n	missense	2	86.67	13	SNP	0.171	G
PTBP1	5725	genome.wustl.edu	37	19	808664	808664	+	Missense_Mutation	SNP	C	C	G			TCGA-AN-A0XR-01A-11D-A10G-09	TCGA-AN-A0XR-10A-01D-A117-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e7dc7492-3a84-49c7-8dea-8f508b53dc40	974aff12-3ec4-41e2-852a-837a513edd6c	g.chr19:808664C>G	ENST00000349038.4	+	12	1360	c.1287C>G	c.(1285-1287)gaC>gaG	p.D429E	PTBP1_ENST00000394601.4_Missense_Mutation_p.D448E|PTBP1_ENST00000350092.4_Missense_Mutation_p.D95E|PTBP1_ENST00000356948.6_Missense_Mutation_p.D455E	NM_031991.3	NP_114368.1	P26599	PTBP1_HUMAN	polypyrimidine tract binding protein 1	429					alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|negative regulation of muscle cell differentiation (GO:0051148)|negative regulation of RNA splicing (GO:0033119)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly-pyrimidine tract binding (GO:0008187)|pre-mRNA binding (GO:0036002)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGACCAAGGACTACGGCAACT	0.637																																						dbGAP											0													50.0	44.0	46.0					19																	808664		2203	4300	6503	-	-	-	SO:0001583	missense	0			X60648	CCDS32859.1, CCDS42456.1, CCDS45892.1	19p13.3	2013-07-16	2002-01-25	2002-01-25	ENSG00000011304	ENSG00000011304		"""RNA binding motif (RRM) containing"""	9583	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein I"""	600693	"""polypyrimidine tract binding protein (heterogeneous nuclear ribonucleoprotein I)"""	PTB		1906036, 11024286	Standard	NM_002819		Approved	HNRPI, HNRNP-I, PTB2, PTB3, PTB-1, PTB4, pPTB	uc002lpp.2	P26599		ENST00000349038.4:c.1287C>G	19.37:g.808664C>G	ENSP00000014112:p.Asp429Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BUQ0	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB	p.D455E	ENST00000349038.4	37	c.1365	CCDS32859.1	19	.	.	.	.	.	.	.	.	.	.	C	15.74	2.923273	0.52653	.	.	ENSG00000011304	ENST00000356948;ENST00000394601;ENST00000349038;ENST00000350092	T;T;T;T	0.54279	0.6;0.58;0.97;1.34	5.14	4.11	0.48088	Nucleotide-binding, alpha-beta plait (1);	0.000000	0.85682	D	0.000000	T	0.72342	0.3448	M	0.84433	2.695	0.80722	D	1	P;P;P;D	0.67145	0.877;0.85;0.919;0.996	P;P;D;D	0.73380	0.838;0.841;0.924;0.98	T	0.75442	-0.3316	10	0.51188	T	0.08	-53.6843	12.1462	0.54024	0.0:0.9169:0.0:0.0831	.	95;429;448;455	A6NLN1;P26599;P26599-2;Q9BUQ0	.;PTBP1_HUMAN;.;.	E	455;448;429;95	ENSP00000349428:D455E;ENSP00000408096:D448E;ENSP00000014112:D429E;ENSP00000342332:D95E	ENSP00000014112:D429E	D	+	3	2	PTBP1	759664	1.000000	0.71417	0.948000	0.38648	0.313000	0.28021	1.974000	0.40559	2.385000	0.81259	0.557000	0.71058	GAC	PTBP1	-	tigrfam_HnRNP-L_PTB	ENSG00000011304		0.637	PTBP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PTBP1	HGNC	protein_coding	OTTHUMT00000457605.1	25	0.00	0	C			808664	808664	+1	no_errors	ENST00000356948	ensembl	human	known	69_37n	missense	36	40.00	24	SNP	1.000	G
SLC51B	123264	genome.wustl.edu	37	15	65345362	65345362	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0XR-01A-11D-A10G-09	TCGA-AN-A0XR-10A-01D-A117-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e7dc7492-3a84-49c7-8dea-8f508b53dc40	974aff12-3ec4-41e2-852a-837a513edd6c	g.chr15:65345362G>A	ENST00000334287.2	+	4	568	c.247G>A	c.(247-249)Gcc>Acc	p.A83T		NM_178859.3	NP_849190.2	Q86UW2	OSTB_HUMAN	solute carrier family 51, beta subunit	83					bile acid and bile salt transport (GO:0015721)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein glycosylation (GO:0060050)|positive regulation of protein targeting to membrane (GO:0090314)|regulation of protein stability (GO:0031647)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	protein heterodimerization activity (GO:0046982)|transporter activity (GO:0005215)									Conjugated Estrogens(DB00286)|Digoxin(DB00390)|Dinoprostone(DB00917)	TTTGGATGAGGCCAAGGATCA	0.473																																						dbGAP											0													106.0	101.0	102.0					15																	65345362		2202	4299	6501	-	-	-	SO:0001583	missense	0				CCDS10199.1	15q22.31	2013-05-22			ENSG00000186198	ENSG00000186198		"""Solute carriers"""	29956	protein-coding gene	gene with protein product	"""organic solute transporter beta subunit"""	612085				12719432, 20538072	Standard	NM_178859		Approved	OSTbeta	uc002aog.3	Q86UW2	OTTHUMG00000133116	ENST00000334287.2:c.247G>A	15.37:g.65345362G>A	ENSP00000335292:p.Ala83Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3SYF5	Missense_Mutation	SNP	NULL	p.A83T	ENST00000334287.2	37	c.247	CCDS10199.1	15	.	.	.	.	.	.	.	.	.	.	G	6.015	0.371248	0.11409	.	.	ENSG00000186198	ENST00000334287	.	.	.	5.14	-0.389	0.12455	.	1.236450	0.05372	N	0.535702	T	0.32675	0.0837	L	0.44542	1.39	0.09310	N	1	B	0.28636	0.218	B	0.25140	0.058	T	0.34329	-0.9833	9	0.66056	D	0.02	2.4988	4.0605	0.09836	0.2715:0.0:0.5068:0.2216	.	83	Q86UW2	OSTB_HUMAN	T	83	.	ENSP00000335292:A83T	A	+	1	0	AC013553.1	63132415	0.003000	0.15002	0.000000	0.03702	0.003000	0.03518	0.421000	0.21280	0.047000	0.15862	-0.150000	0.13652	GCC	SLC51B	-	NULL	ENSG00000186198		0.473	SLC51B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC51B	HGNC	protein_coding	OTTHUMT00000256783.1	176	0.00	0	G	NM_178859		65345362	65345362	+1	no_errors	ENST00000334287	ensembl	human	known	69_37n	missense	209	40.06	141	SNP	0.000	A
SRCAP	10847	genome.wustl.edu	37	16	30718965	30718965	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0XR-01A-11D-A10G-09	TCGA-AN-A0XR-10A-01D-A117-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e7dc7492-3a84-49c7-8dea-8f508b53dc40	974aff12-3ec4-41e2-852a-837a513edd6c	g.chr16:30718965G>A	ENST00000262518.4	+	6	950	c.565G>A	c.(565-567)Gcc>Acc	p.A189T	SNORA30_ENST00000384028.1_RNA|SRCAP_ENST00000344771.4_Missense_Mutation_p.A189T|SRCAP_ENST00000395059.2_Missense_Mutation_p.A189T	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	189	HSA. {ECO:0000255|PROSITE- ProRule:PRU00549}.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GGAGGAGCAGGCCAAGCTGCG	0.582																																						dbGAP											0													126.0	86.0	100.0					16																	30718965		2197	4300	6497	-	-	-	SO:0001583	missense	0			AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.565G>A	16.37:g.30718965G>A	ENSP00000262518:p.Ala189Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like	p.A189T	ENST00000262518.4	37	c.565	CCDS10689.2	16	.	.	.	.	.	.	.	.	.	.	G	15.16	2.750155	0.49257	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.91295	-2.82;-2.79;-2.78	5.29	4.34	0.51931	Helicase/SANT-associated, DNA binding (1);HSA (1);	0.000000	0.49916	D	0.000122	D	0.90456	0.7011	L	0.50333	1.59	0.43444	D	0.995625	P;P	0.52692	0.944;0.955	P;P	0.52424	0.572;0.698	D	0.88689	0.3207	10	0.31617	T	0.26	-11.2211	12.7089	0.57078	0.0799:0.0:0.9201:0.0	.	189;189	Q6ZRS2-2;Q6ZRS2	.;SRCAP_HUMAN	T	189	ENSP00000262518:A189T;ENSP00000378499:A189T;ENSP00000343042:A189T	ENSP00000262518:A189T	A	+	1	0	SRCAP	30626466	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.788000	0.47806	1.471000	0.48121	0.561000	0.74099	GCC	SRCAP	-	pfam_HSA,smart_HAS_subgr,pfscan_Helicase/SANT-assoc_DNA-bd	ENSG00000080603		0.582	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRCAP	HGNC	protein_coding	OTTHUMT00000255523.1	101	0.00	0	G	NM_006662		30718965	30718965	+1	no_errors	ENST00000262518	ensembl	human	known	69_37n	missense	287	29.66	121	SNP	1.000	A
STXBP2	6813	genome.wustl.edu	37	19	7712301	7712301	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0XR-01A-11D-A10G-09	TCGA-AN-A0XR-10A-01D-A117-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e7dc7492-3a84-49c7-8dea-8f508b53dc40	974aff12-3ec4-41e2-852a-837a513edd6c	g.chr19:7712301C>T	ENST00000221283.5	+	18	1631	c.1600C>T	c.(1600-1602)Ctc>Ttc	p.L534F	STXBP2_ENST00000414284.2_Missense_Mutation_p.L531F|STXBP2_ENST00000441779.2_Missense_Mutation_p.L545F|STXBP2_ENST00000602355.1_Missense_Mutation_p.L69F	NM_006949.2	NP_008880.2	Q15833	STXB2_HUMAN	syntaxin binding protein 2	534					leukocyte mediated cytotoxicity (GO:0001909)|neutrophil degranulation (GO:0043312)|protein transport (GO:0015031)|regulation of mast cell degranulation (GO:0043304)|vesicle docking involved in exocytosis (GO:0006904)	azurophil granule (GO:0042582)|cytolytic granule (GO:0044194)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|specific granule (GO:0042581)|tertiary granule (GO:0070820)	syntaxin-3 binding (GO:0030348)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	23						GGGCCCCCGGCTCATCGTGTA	0.647																																						dbGAP											0													21.0	27.0	25.0					19																	7712301		2201	4298	6499	-	-	-	SO:0001583	missense	0			U63533	CCDS12181.1, CCDS45948.1, CCDS62522.1	19p13.3-p13.2	2014-09-17				ENSG00000076944			11445	protein-coding gene	gene with protein product		601717				8921365	Standard	NM_001127396		Approved	UNC18B, Hunc18b	uc010xjr.3	Q15833		ENST00000221283.5:c.1600C>T	19.37:g.7712301C>T	ENSP00000221283:p.Leu534Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E175|E7EQD5|Q9BU65	Missense_Mutation	SNP	pfam_Sec1-like,superfamily_Sec1-like	p.L545F	ENST00000221283.5	37	c.1633	CCDS12181.1	19	.	.	.	.	.	.	.	.	.	.	C	14.53	2.562811	0.45694	.	.	ENSG00000076944	ENST00000221283;ENST00000414284;ENST00000441779;ENST00000543902	T;T;T	0.77229	-1.08;-1.08;-1.08	5.26	5.26	0.73747	.	0.087000	0.52532	D	0.000061	D	0.87334	0.6151	M	0.75777	2.31	0.58432	D	0.999994	D;B;D;D	0.58620	0.983;0.281;0.958;0.966	D;B;D;D	0.68943	0.961;0.398;0.935;0.961	D	0.88598	0.3148	10	0.72032	D	0.01	-10.5108	16.4321	0.83853	0.0:1.0:0.0:0.0	.	545;500;531;534	E7EQD5;B4DY46;Q15833-2;Q15833	.;.;.;STXB2_HUMAN	F	534;531;545;534	ENSP00000221283:L534F;ENSP00000409471:L531F;ENSP00000413606:L545F	ENSP00000221283:L534F	L	+	1	0	STXBP2	7618301	0.993000	0.37304	0.781000	0.31783	0.033000	0.12548	2.490000	0.45294	2.474000	0.83562	0.555000	0.69702	CTC	STXBP2	-	pfam_Sec1-like,superfamily_Sec1-like	ENSG00000076944		0.647	STXBP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	STXBP2	HGNC	protein_coding	OTTHUMT00000460963.1	19	0.00	0	C	NM_006949		7712301	7712301	+1	no_errors	ENST00000441779	ensembl	human	known	69_37n	missense	9	66.67	18	SNP	0.998	T
TBX3	6926	genome.wustl.edu	37	12	115118687	115118688	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AN-A0XR-01A-11D-A10G-09	TCGA-AN-A0XR-10A-01D-A117-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e7dc7492-3a84-49c7-8dea-8f508b53dc40	974aff12-3ec4-41e2-852a-837a513edd6c	g.chr12:115118687_115118688insC	ENST00000257566.3	-	2	1042_1043	c.653_654insG	c.(652-654)ggafs	p.G218fs	TBX3_ENST00000349155.2_Frame_Shift_Ins_p.G218fs	NM_016569.3	NP_057653.3	O15119	TBX3_HUMAN	T-box 3	218					anterior/posterior axis specification, embryo (GO:0008595)|atrioventricular bundle cell differentiation (GO:0003167)|blood vessel development (GO:0001568)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cardiac muscle cell fate commitment (GO:0060923)|cell aging (GO:0007569)|cellular senescence (GO:0090398)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|female genitalia development (GO:0030540)|follicle-stimulating hormone secretion (GO:0046884)|forelimb morphogenesis (GO:0035136)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|limbic system development (GO:0021761)|luteinizing hormone secretion (GO:0032275)|male genitalia development (GO:0030539)|mammary gland development (GO:0030879)|mammary placode formation (GO:0060596)|mesoderm morphogenesis (GO:0048332)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sinoatrial node cell development (GO:0060931)|skeletal system development (GO:0001501)|specification of organ position (GO:0010159)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum morphogenesis (GO:0060412)	nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		AACTTACAAATCCATGTTTGTC	0.446																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			BC025258	CCDS9175.1, CCDS9176.1	12q24.21	2013-09-05	2008-07-31		ENSG00000135111	ENSG00000135111		"""T-boxes"""	11602	protein-coding gene	gene with protein product		601621	"""ulnar mammary syndrome"""	UMS		8988164	Standard	NM_005996		Approved	TBX3-ISO, XHL	uc001tvt.1	O15119	OTTHUMG00000169586	ENST00000257566.3:c.654dupG	12.37:g.115118689_115118689dupC	ENSP00000257566:p.Gly218fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TB20|Q9UKF8	Frame_Shift_Ins	INS	pfam_TF_T-box,pfam_TBX,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.F219fs	ENST00000257566.3	37	c.654_653	CCDS9176.1	12																																																																																			TBX3	-	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box	ENSG00000135111		0.446	TBX3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBX3	HGNC	protein_coding	OTTHUMT00000404947.2	128	0.00	0	-	NM_016569, NM_005996		115118687	115118688	-1	no_errors	ENST00000257566	ensembl	human	known	69_37n	frame_shift_ins	226	36.87	132	INS	1.000:1.000	C
TRIM64DP	727828	genome.wustl.edu	37	11	89515256	89515257	+	IGR	INS	-	-	G			TCGA-AN-A0XR-01A-11D-A10G-09	TCGA-AN-A0XR-10A-01D-A117-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e7dc7492-3a84-49c7-8dea-8f508b53dc40	974aff12-3ec4-41e2-852a-837a513edd6c	g.chr11:89515256_89515257insG								RP11-313I2.11 (27135 upstream) : TRIM49 (15565 downstream)																							AACTGGATTCTGGGAGTCTGTC	0.47																																						dbGAP											0																																										-	-	-	SO:0001628	intergenic_variant	0																															11.37:g.89515259_89515259dupG		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	INS	-	NULL		37	NULL		11																																																																																			TRIM64DP	-	-	ENSG00000254751	0	0.470					TRIM64DP	HGNC			95	0.00	0	-			89515256	89515257	+1	no_errors	ENST00000532821	ensembl	human	known	69_37n	rna	126	37.00	74	INS	0.997:0.998	G
