#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_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	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	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	i_deletion_substructures	i_domain	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	i_gene_name_source	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
ABLIM3	22885	genome.wustl.edu	37	5	148622102	148622102	+	Splice_Site	SNP	G	G	T			TCGA-LP-A5U3-01A-11D-A28B-09	TCGA-LP-A5U3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83db6019-579d-4875-a935-6878ed5119e2	9fa979c3-9393-464e-a0b4-56b84ddfca32	g.chr5:148622102G>T	ENST00000506113.1	+	14	1833		c.e14+1		ABLIM3_ENST00000504238.1_Intron|ABLIM3_ENST00000356541.3_Intron|RP11-331K21.1_ENST00000512647.2_RNA|ABLIM3_ENST00000326685.7_Splice_Site|ABLIM3_ENST00000517451.1_5'Flank|ABLIM3_ENST00000309868.7_Splice_Site|ABLIM3_ENST00000508983.1_Splice_Site|RP11-331K21.1_ENST00000522685.1_RNA|AC012613.2_ENST00000523176.1_RNA			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3						actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|cilium assembly (GO:0042384)|lamellipodium assembly (GO:0030032)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAACGGCATGGTATGGTCAGA	0.567																																																	0													128.0	116.0	120.0					5																	148622102		2203	4300	6503	SO:0001630	splice_region_variant	22885			AB020650	CCDS4294.1	5q33.1	2008-02-05			ENSG00000173210	ENSG00000173210			29132	protein-coding gene	gene with protein product		611305					Standard	XM_005268392		Approved	KIAA0843	uc003lpy.2	O94929	OTTHUMG00000129932	ENST00000506113.1:c.1351+1G>T	5.37:g.148622102G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K121|Q19VH3|Q658S1|Q68CI5|Q9BV32	Splice_Site	SNP	-	e14+1	ENST00000506113.1	37	c.1351+1	CCDS4294.1	5	.	.	.	.	.	.	.	.	.	.	G	19.80	3.894830	0.72639	.	.	ENSG00000173210	ENST00000326685;ENST00000309868;ENST00000506113;ENST00000508983	.	.	.	5.31	4.44	0.53790	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6369	0.68696	0.0711:0.0:0.9289:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ABLIM3	148602295	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	9.359000	0.97115	1.361000	0.45981	0.591000	0.81541	.	ABLIM3	-	-		0.567	ABLIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ABLIM3	HGNC	protein_coding	OTTHUMT00000373435.1	G	NM_014945	Intron	148622102	+1	no_errors	ENST00000309868	ensembl	human	known	70_37	splice_site	SNP	1.000	T
ARHGEF10L	55160	genome.wustl.edu	37	1	17914042	17914042	+	Missense_Mutation	SNP	A	A	G			TCGA-LP-A5U3-01A-11D-A28B-09	TCGA-LP-A5U3-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83db6019-579d-4875-a935-6878ed5119e2	9fa979c3-9393-464e-a0b4-56b84ddfca32	g.chr1:17914042A>G	ENST00000361221.3	+	3	284	c.125A>G	c.(124-126)gAt>gGt	p.D42G	ARHGEF10L_ENST00000375420.3_5'Flank|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.D42G|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.D42G|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.D42G	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	42						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		GACAGTGATGATGAAGAGGAC	0.597																																																	0													144.0	157.0	152.0					1																	17914042		2203	4300	6503	SO:0001583	missense	55160			AB046846	CCDS182.1, CCDS30617.1	1p36.13	2011-11-16			ENSG00000074964	ENSG00000074964		"""Rho guanine nucleotide exchange factors"""	25540	protein-coding gene	gene with protein product	"""GrinchGEF"""	612494				10997877, 16112081	Standard	XM_005245923		Approved	FLJ10521, KIAA1626	uc001ban.3	Q9HCE6	OTTHUMG00000002514	ENST00000361221.3:c.125A>G	1.37:g.17914042A>G	ENSP00000355060:p.Asp42Gly	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZKS1|Q17RW1|Q3YFJ4|Q5VXI5|Q5VXI6|Q66K51|Q6P0L7|Q8NAV5|Q9NVT3	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,smart_DH-domain,pfscan_DH-domain	p.D42G	ENST00000361221.3	37	c.125	CCDS182.1	1	.	.	.	.	.	.	.	.	.	.	A	17.23	3.335706	0.60853	.	.	ENSG00000074964	ENST00000361221;ENST00000452522;ENST00000434513;ENST00000375415	T;T;T;T	0.61510	0.29;0.23;0.1;0.23	5.34	5.34	0.76211	.	0.398936	0.22917	N	0.054070	T	0.47451	0.1446	N	0.24115	0.695	0.80722	D	1	P;B;B;P	0.37370	0.592;0.361;0.361;0.457	B;B;B;B	0.40329	0.326;0.163;0.163;0.112	T	0.53408	-0.8443	10	0.72032	D	0.01	-1.0576	11.9784	0.53105	1.0:0.0:0.0:0.0	.	42;42;42;42	Q9HCE6-5;Q9HCE6-3;Q9HCE6-2;Q9HCE6	.;.;.;ARGAL_HUMAN	G	42	ENSP00000355060:D42G;ENSP00000399401:D42G;ENSP00000394621:D42G;ENSP00000364564:D42G	ENSP00000355060:D42G	D	+	2	0	ARHGEF10L	17786629	0.999000	0.42202	0.999000	0.59377	0.995000	0.86356	4.194000	0.58393	2.156000	0.67533	0.533000	0.62120	GAT	ARHGEF10L	-	NULL		0.597	ARHGEF10L-001	KNOWN	basic|CCDS	protein_coding	ARHGEF10L	HGNC	protein_coding	OTTHUMT00000007147.1	A	NM_018125		17914042	+1	no_errors	ENST00000361221	ensembl	human	known	70_37	missense	SNP	0.998	G
ATP6V0A4	50617	genome.wustl.edu	37	7	138417639	138417639	+	Missense_Mutation	SNP	G	G	T			TCGA-LP-A5U3-01A-11D-A28B-09	TCGA-LP-A5U3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83db6019-579d-4875-a935-6878ed5119e2	9fa979c3-9393-464e-a0b4-56b84ddfca32	g.chr7:138417639G>T	ENST00000310018.2	-	17	2173	c.1891C>A	c.(1891-1893)Ccc>Acc	p.P631T	ATP6V0A4_ENST00000393054.1_Missense_Mutation_p.P631T|ATP6V0A4_ENST00000353492.4_Missense_Mutation_p.P631T	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	631					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|excretion (GO:0007588)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|regulation of pH (GO:0006885)|sensory perception of sound (GO:0007605)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						TTGTAGAGGGGTGCGTTGGAA	0.368																																																	0													98.0	94.0	96.0					7																	138417639		2203	4300	6503	SO:0001583	missense	50617			AF245517	CCDS5849.1	7q34	2011-06-09	2006-01-20	2002-05-10	ENSG00000105929	ENSG00000105929		"""ATPases / V-type"""	866	protein-coding gene	gene with protein product		605239	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1B"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 4"", ""ATPase, H+ transporting, lysosomal V0 subunit A4"""	ATP6N1B, ATP6N2, RTA1C		10577919, 10973252	Standard	XM_005250393		Approved	RDRTA2, VPP2, RTADR, a4, Vph1, Stv1	uc003vuf.3	Q9HBG4	OTTHUMG00000157122	ENST00000310018.2:c.1891C>A	7.37:g.138417639G>T	ENSP00000308122:p.Pro631Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	A4D1R4|A8KA80|Q32M47	Missense_Mutation	SNP	pfam_ATPase_V0/A0_a	p.P631T	ENST00000310018.2	37	c.1891	CCDS5849.1	7	.	.	.	.	.	.	.	.	.	.	G	10.91	1.483355	0.26598	.	.	ENSG00000105929	ENST00000310018;ENST00000393054;ENST00000353492	D;D;D	0.84800	-1.9;-1.9;-1.9	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	D	0.92760	0.7698	M	0.82517	2.595	0.58432	D	0.999995	D	0.89917	1.0	D	0.77557	0.99	D	0.89842	0.4003	10	0.22706	T	0.39	-26.721	20.2279	0.98344	0.0:0.0:1.0:0.0	.	631	Q9HBG4	VPP4_HUMAN	T	631	ENSP00000308122:P631T;ENSP00000376774:P631T;ENSP00000253856:P631T	ENSP00000308122:P631T	P	-	1	0	ATP6V0A4	138068179	1.000000	0.71417	0.699000	0.30290	0.032000	0.12392	4.764000	0.62264	2.778000	0.95560	0.655000	0.94253	CCC	ATP6V0A4	-	pfam_ATPase_V0/A0_a		0.368	ATP6V0A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP6V0A4	HGNC	protein_coding	OTTHUMT00000347514.1	G	NM_020632		138417639	-1	no_errors	ENST00000310018	ensembl	human	known	70_37	missense	SNP	0.999	T
B4GALNT2	124872	genome.wustl.edu	37	17	47218741	47218741	+	Silent	SNP	G	G	A	rs141409265	byFrequency	TCGA-LP-A5U3-01A-11D-A28B-09	TCGA-LP-A5U3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83db6019-579d-4875-a935-6878ed5119e2	9fa979c3-9393-464e-a0b4-56b84ddfca32	g.chr17:47218741G>A	ENST00000300404.2	+	2	386	c.327G>A	c.(325-327)ccG>ccA	p.P109P	B4GALNT2_ENST00000504681.1_Silent_p.P23P|B4GALNT2_ENST00000393354.2_Silent_p.P49P	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	109					lipid glycosylation (GO:0030259)|negative regulation of cell-cell adhesion (GO:0022408)|protein glycosylation (GO:0006486)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			GTCCTGCCCCGGGTGTCCAGA	0.498																																					GBM(124;244 1635 8663 18097 33175)												0								A	,,	4,4402	8.1+/-20.4	0,4,2199	90.0	91.0	91.0		147,69,327	-10.8	0.0	17	dbSNP_134	91	11,8589	8.4+/-32.0	0,11,4289	no	coding-synonymous,coding-synonymous,coding-synonymous	B4GALNT2	NM_001159387.1,NM_001159388.1,NM_153446.2	,,	0,15,6488	AA,AG,GG		0.1279,0.0908,0.1153	,,	49/507,23/481,109/567	47218741	15,12991	2203	4300	6503	SO:0001819	synonymous_variant	124872			AJ517770	CCDS11544.1, CCDS54139.1, CCDS54140.1	17q21.33	2013-02-22	2006-01-08	2006-01-08	ENSG00000167080	ENSG00000167080	2.4.1.-	"""Beta 4-glycosyltransferases"", ""Glycosyltransferase family 2 domain containing"""	24136	protein-coding gene	gene with protein product		111730	"""UDP-GalNAc:Neu5Acalpha2-3Galbeta-R beta1,4-N-acetylgalactosaminyltransferase"""	GALGT2		8782649, 12678917	Standard	NM_153446		Approved	Sda, Cad	uc002ion.2	Q8NHY0	OTTHUMG00000161307	ENST00000300404.2:c.327G>A	17.37:g.47218741G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DZE4|Q14CP1|Q86Y40	Silent	SNP	pfam_Glyco_trans_2,pirsf_GM2_synthase	p.P109	ENST00000300404.2	37	c.327	CCDS11544.1	17																																																																																			B4GALNT2	-	pirsf_GM2_synthase		0.498	B4GALNT2-001	KNOWN	basic|CCDS	protein_coding	B4GALNT2	HGNC	protein_coding	OTTHUMT00000364477.1	G	NM_153446		47218741	+1	no_errors	ENST00000300404	ensembl	human	known	70_37	silent	SNP	0.000	A
ZGRF1	55345	genome.wustl.edu	37	4	113541344	113541344	+	Silent	SNP	C	C	T			TCGA-LP-A5U3-01A-11D-A28B-09	TCGA-LP-A5U3-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83db6019-579d-4875-a935-6878ed5119e2	9fa979c3-9393-464e-a0b4-56b84ddfca32	g.chr4:113541344C>T	ENST00000505019.1	-	5	290	c.165G>A	c.(163-165)gtG>gtA	p.V55V	C4orf21_ENST00000445203.2_Silent_p.V24V|C4orf21_ENST00000309071.5_Silent_p.V55V	NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		55						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		CTCCAGGTTTCACCTGAAAGA	0.348																																																	0													67.0	65.0	65.0					4																	113541344		2203	4300	6503	SO:0001819	synonymous_variant	55345																														ENST00000505019.1:c.165G>A	4.37:g.113541344C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Silent	SNP	pfam_DUF2439,pfam_Znf_GRF	p.V55	ENST00000505019.1	37	c.165		4																																																																																			C4orf21	-	pfam_DUF2439		0.348	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	C4orf21	HGNC	protein_coding	OTTHUMT00000256413.1	C			113541344	-1	no_errors	ENST00000505019	ensembl	human	known	70_37	silent	SNP	1.000	T
CCDC28B	79140	genome.wustl.edu	37	1	32669616	32669616	+	Missense_Mutation	SNP	G	G	T			TCGA-LP-A5U3-01A-11D-A28B-09	TCGA-LP-A5U3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83db6019-579d-4875-a935-6878ed5119e2	9fa979c3-9393-464e-a0b4-56b84ddfca32	g.chr1:32669616G>T	ENST00000373602.5	+	3	648	c.301G>T	c.(301-303)Gat>Tat	p.D101Y	IQCC_ENST00000537469.1_5'Flank|IQCC_ENST00000291358.6_5'Flank|RP4-622L5.7_ENST00000373604.4_RNA|RP4-622L5.7_ENST00000421616.1_RNA|CCDC28B_ENST00000421922.2_Missense_Mutation_p.D101Y|CCDC28B_ENST00000483009.1_3'UTR	NM_024296.3	NP_077272.2	Q9BUN5	CC28B_HUMAN	coiled-coil domain containing 28B	101					cilium assembly (GO:0042384)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				CCTGCTCAATGATTTCCACTC	0.622																																																	0													61.0	59.0	59.0					1																	32669616		2203	4300	6503	SO:0001583	missense	79140			BC022848	CCDS354.2, CCDS72749.1	1p36.11-p34.2	2008-02-05			ENSG00000160050	ENSG00000160050			28163	protein-coding gene	gene with protein product		610162				16327777	Standard	XM_006710892		Approved	MGC1203, RP4-622L5.5	uc001bul.1	Q9BUN5	OTTHUMG00000005738	ENST00000373602.5:c.301G>T	1.37:g.32669616G>T	ENSP00000362704:p.Asp101Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K789|Q8TBV8	Missense_Mutation	SNP	NULL	p.D101Y	ENST00000373602.5	37	c.301	CCDS354.2	1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.932563	0.92458	.	.	ENSG00000160050	ENST00000373602;ENST00000421922	T;T	0.62639	0.09;0.01	5.52	5.52	0.82312	.	0.091863	0.64402	D	0.000001	T	0.81875	0.4915	M	0.82823	2.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.984;0.993	D	0.83775	0.0222	10	0.87932	D	0	3.6348	19.7968	0.96490	0.0:0.0:1.0:0.0	.	101;101	Q9BUN5;E9PM81	CC28B_HUMAN;.	Y	101	ENSP00000362704:D101Y;ENSP00000413017:D101Y	ENSP00000362704:D101Y	D	+	1	0	CCDC28B	32442203	1.000000	0.71417	0.998000	0.56505	0.967000	0.64934	9.628000	0.98415	2.764000	0.94973	0.561000	0.74099	GAT	CCDC28B	-	NULL		0.622	CCDC28B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC28B	HGNC	protein_coding	OTTHUMT00000015723.4	G	NM_024296		32669616	+1	no_errors	ENST00000373602	ensembl	human	known	70_37	missense	SNP	1.000	T
CCDC77	84318	genome.wustl.edu	37	12	521075	521075	+	Silent	SNP	T	T	G			TCGA-LP-A5U3-01A-11D-A28B-09	TCGA-LP-A5U3-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83db6019-579d-4875-a935-6878ed5119e2	9fa979c3-9393-464e-a0b4-56b84ddfca32	g.chr12:521075T>G	ENST00000239830.4	+	4	380	c.201T>G	c.(199-201)gcT>gcG	p.A67A	CCDC77_ENST00000422000.1_Silent_p.A35A|CCDC77_ENST00000540344.1_3'UTR|CCDC77_ENST00000412006.2_Silent_p.A35A|CCDC77_ENST00000540180.1_Silent_p.A35A	NM_032358.3	NP_115734.1	Q9BR77	CCD77_HUMAN	coiled-coil domain containing 77	67						centrosome (GO:0005813)|membrane (GO:0016020)				cervix(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(10;0.0149)|all_epithelial(11;0.035)|all_lung(10;0.111)|Ovarian(42;0.142)|Lung NSC(10;0.156)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.033)			AGAAGATGGCTGAGTGTGAGG	0.468																																																	0													93.0	93.0	93.0					12																	521075		2203	4300	6503	SO:0001819	synonymous_variant	84318			AK027638	CCDS8503.1, CCDS44781.1	12p13.33	2006-02-16			ENSG00000120647	ENSG00000120647			28203	protein-coding gene	gene with protein product						12477932	Standard	NM_001130148		Approved	MGC13183	uc001qig.3	Q9BR77	OTTHUMG00000129214	ENST00000239830.4:c.201T>G	12.37:g.521075T>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DDE8	Silent	SNP	NULL	p.A67	ENST00000239830.4	37	c.201	CCDS8503.1	12																																																																																			CCDC77	-	NULL		0.468	CCDC77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC77	HGNC	protein_coding	OTTHUMT00000251296.1	T	NM_032358		521075	+1	no_errors	ENST00000239830	ensembl	human	known	70_37	silent	SNP	0.999	G
CDH19	28513	genome.wustl.edu	37	18	64239258	64239258	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A5U3-01A-11D-A28B-09	TCGA-LP-A5U3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83db6019-579d-4875-a935-6878ed5119e2	9fa979c3-9393-464e-a0b4-56b84ddfca32	g.chr18:64239258G>A	ENST00000540086.1	-	2	430	c.184C>T	c.(184-186)Cac>Tac	p.H62Y	CDH19_ENST00000262150.2_Missense_Mutation_p.H62Y	NM_001271028.1	NP_001257957.1	Q96JQ0	PCD16_HUMAN	cadherin 19, type 2	162	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				TGGCCGATGTGATGACTAGTC	0.378																																																	0													86.0	80.0	82.0					18																	64239258		2203	4300	6503	SO:0001583	missense	28513			AJ007607	CCDS11994.1, CCDS59325.1	18q22.1	2010-01-26			ENSG00000071991	ENSG00000071991		"""Cadherins / Major cadherins"""	1758	protein-coding gene	gene with protein product		603016				10995570	Standard	NM_021153		Approved	CDH7	uc002lkc.2	Q9H159	OTTHUMG00000132802	ENST00000540086.1:c.184C>T	18.37:g.64239258G>A	ENSP00000439593:p.His62Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	O15098	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.H62Y	ENST00000540086.1	37	c.184	CCDS59325.1	18	.	.	.	.	.	.	.	.	.	.	G	8.648	0.897671	0.17686	.	.	ENSG00000071991	ENST00000262150;ENST00000540086;ENST00000454642	T;T	0.60171	0.21;0.21	5.83	2.99	0.34606	Cadherin (2);Cadherin-like (1);	0.634672	0.16560	N	0.209072	T	0.22551	0.0544	N	0.01228	-0.945	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.08055	0.002;0.003	T	0.28202	-1.0051	10	0.02654	T	1	.	9.1615	0.37025	0.3257:0.0:0.6743:0.0	.	62;62	F5H1K0;Q9H159	.;CAD19_HUMAN	Y	62;62;7	ENSP00000262150:H62Y;ENSP00000439593:H62Y	ENSP00000262150:H62Y	H	-	1	0	CDH19	62390238	0.001000	0.12720	0.007000	0.13788	0.036000	0.12997	0.985000	0.29578	0.326000	0.23384	0.655000	0.94253	CAC	CDH19	-	pfam_Cadherin,superfamily_Cadherin-like		0.378	CDH19-005	PUTATIVE	basic|exp_conf|CCDS	protein_coding	CDH19	HGNC	protein_coding	OTTHUMT00000442285.1	G	NM_021153		64239258	-1	no_errors	ENST00000262150	ensembl	human	known	70_37	missense	SNP	0.009	A
CDK5RAP2	55755	genome.wustl.edu	37	9	123287355	123287355	+	Splice_Site	SNP	A	A	G			TCGA-LP-A5U3-01A-11D-A28B-09	TCGA-LP-A5U3-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83db6019-579d-4875-a935-6878ed5119e2	9fa979c3-9393-464e-a0b4-56b84ddfca32	g.chr9:123287355A>G	ENST00000349780.4	-	11	1180	c.1001T>C	c.(1000-1002)gTt>gCt	p.V334A	CDK5RAP2_ENST00000360822.3_Splice_Site_p.V334A|CDK5RAP2_ENST00000360190.4_Splice_Site_p.V334A|CDK5RAP2_ENST00000359309.3_Splice_Site_p.V334A	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	334					brain development (GO:0007420)|centrosome organization (GO:0051297)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of centriole replication (GO:0046600)|negative regulation of neuron differentiation (GO:0045665)|neurogenesis (GO:0022008)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of spindle checkpoint (GO:0090231)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						AAGTTCTTCAACCTGGGGAAA	0.448																																																	0													82.0	73.0	76.0					9																	123287355		2203	4300	6503	SO:0001630	splice_region_variant	55755			BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861			18672	protein-coding gene	gene with protein product	"""centrosomin"""	608201	"""microcephaly, primary autosomal recessive 3"""	MCPH3		10721722, 17764569, 24466316	Standard	NM_018249		Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.1000-1T>C	9.37:g.123287355A>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Missense_Mutation	SNP	pfam_Spindle_assoc	p.V334A	ENST00000349780.4	37	c.1001	CCDS6823.1	9	.	.	.	.	.	.	.	.	.	.	A	14.45	2.539953	0.45176	.	.	ENSG00000136861	ENST00000360822;ENST00000359309;ENST00000349780;ENST00000360190;ENST00000345313;ENST00000482047	T;T;T;T;T	0.48522	3.83;3.73;3.83;3.74;0.81	5.51	3.22	0.36961	.	0.495352	0.18777	N	0.131451	T	0.43433	0.1247	L	0.57536	1.79	0.29881	N	0.826015	P;P;P;P	0.46142	0.873;0.571;0.859;0.799	B;B;P;B	0.48189	0.225;0.173;0.57;0.112	T	0.34950	-0.9808	10	0.19147	T	0.46	.	3.8196	0.08830	0.6369:0.0:0.1488:0.2143	.	135;334;334;334	Q6MZT4;Q96SN8-2;Q96SN8-4;Q96SN8	.;.;.;CK5P2_HUMAN	A	334;334;334;334;336;88	ENSP00000354065:V334A;ENSP00000352258:V334A;ENSP00000343818:V334A;ENSP00000353317:V334A;ENSP00000419640:V88A	ENSP00000341695:V336A	V	-	2	0	CDK5RAP2	122327176	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	2.862000	0.48388	2.117000	0.64856	0.454000	0.30748	GTT	CDK5RAP2	-	NULL		0.448	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDK5RAP2	HGNC	protein_coding	OTTHUMT00000055535.1	A	NM_018249	Missense_Mutation	123287355	-1	no_errors	ENST00000349780	ensembl	human	known	70_37	missense	SNP	1.000	G
COL22A1	169044	genome.wustl.edu	37	8	139734394	139734394	+	Intron	SNP	A	A	C			TCGA-LP-A5U3-01A-11D-A28B-09	TCGA-LP-A5U3-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83db6019-579d-4875-a935-6878ed5119e2	9fa979c3-9393-464e-a0b4-56b84ddfca32	g.chr8:139734394A>C	ENST00000303045.6	-	26	2694				COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Intron	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1						extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GGCTTACATTAAGTTGTTTCA	0.512										HNSCC(7;0.00092)																																							0													14.0	13.0	14.0					8																	139734394		692	1591	2283	SO:0001627	intron_variant	169044			AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.2248-62T>G	8.37:g.139734394A>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZMH0|C9K0G4|Q8IVT9	RNA	SNP	-	NULL	ENST00000303045.6	37	NULL	CCDS6376.1	8																																																																																			COL22A1	-	-		0.512	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL22A1	HGNC	protein_coding	OTTHUMT00000315905.2	A	XM_291257		139734394	-1	no_errors	ENST00000341807	ensembl	human	known	70_37	rna	SNP	0.000	C
CPZ	8532	genome.wustl.edu	37	4	8608555	8608555	+	Missense_Mutation	SNP	A	A	G			TCGA-LP-A5U3-01A-11D-A28B-09	TCGA-LP-A5U3-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83db6019-579d-4875-a935-6878ed5119e2	9fa979c3-9393-464e-a0b4-56b84ddfca32	g.chr4:8608555A>G	ENST00000360986.4	+	6	1172	c.998A>G	c.(997-999)tAc>tGc	p.Y333C	CPZ_ENST00000429646.2_5'UTR|CPZ_ENST00000382480.2_Missense_Mutation_p.Y196C|CPZ_ENST00000315782.6_Missense_Mutation_p.Y322C	NM_001014447.2	NP_001014447	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	333					proteolysis (GO:0006508)|Wnt signaling pathway (GO:0016055)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TCCGAGTACTACCGGCTGGCG	0.647																																																	0													51.0	49.0	49.0					4																	8608555		2203	4300	6503	SO:0001583	missense	8532			U83411	CCDS3404.1, CCDS33953.1, CCDS43212.1	4p16.1	2012-02-10			ENSG00000109625	ENSG00000109625			2333	protein-coding gene	gene with protein product	"""metallocarboxypeptidase Z"""	603105				9099699	Standard	NM_001014447		Approved		uc003glm.3	Q66K79	OTTHUMG00000090513	ENST00000360986.4:c.998A>G	4.37:g.8608555A>G	ENSP00000354255:p.Tyr333Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	O00520|Q96MX2	Missense_Mutation	SNP	pfam_Peptidase_M14,pfam_Frizzled_dom,superfamily_Frizzled_dom,superfamily_CarboxyPept-like_regulatory,smart_Frizzled_dom,smart_Peptidase_M14,pfscan_Frizzled_dom,prints_Peptidase_M14	p.Y333C	ENST00000360986.4	37	c.998	CCDS33953.1	4	.	.	.	.	.	.	.	.	.	.	a	15.90	2.969826	0.53614	.	.	ENSG00000109625	ENST00000360986;ENST00000382480;ENST00000315782	T;T;T	0.10763	2.84;2.84;2.84	3.46	3.46	0.39613	Peptidase M14, carboxypeptidase A (2);	0.070923	0.64402	U	0.000017	T	0.32971	0.0847	M	0.81239	2.535	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.17623	-1.0363	10	0.87932	D	0	-35.6179	12.138	0.53982	1.0:0.0:0.0:0.0	.	322;333	Q66K79-2;Q66K79	.;CBPZ_HUMAN	C	333;196;322	ENSP00000354255:Y333C;ENSP00000371920:Y196C;ENSP00000315074:Y322C	ENSP00000315074:Y322C	Y	+	2	0	CPZ	8659455	1.000000	0.71417	1.000000	0.80357	0.403000	0.30841	6.405000	0.73272	1.438000	0.47492	0.370000	0.22315	TAC	CPZ	-	pfam_Peptidase_M14,smart_Peptidase_M14		0.647	CPZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CPZ	HGNC	protein_coding	OTTHUMT00000207001.4	A	NM_003652		8608555	+1	no_errors	ENST00000360986	ensembl	human	known	70_37	missense	SNP	1.000	G
CROCCP2	84809	genome.wustl.edu	37	1	16956844	16956844	+	lincRNA	SNP	T	T	C	rs2095691	byFrequency	TCGA-LP-A5U3-01A-11D-A28B-09	TCGA-LP-A5U3-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83db6019-579d-4875-a935-6878ed5119e2	9fa979c3-9393-464e-a0b4-56b84ddfca32	g.chr1:16956844T>C	ENST00000412962.1	-	0	294							Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											TGAACCCTCATCTCCCTGGGG	0.647													.|||	1011	0.201877	0.2617	0.1182	5008	,	,		56265	0.2688		0.1571	False		,,,				2504	0.1575																0																																												84809			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.16956844T>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	-	NULL	ENST00000412962.1	37	NULL		1																																																																																			CROCCP2	-	-		0.647	CROCCP2-003	KNOWN	basic	lincRNA	CROCCP2	HGNC	lincRNA	OTTHUMT00000092784.1	T	NR_026752.1		16956844	-1	no_errors	ENST00000362058	ensembl	human	known	70_37	rna	SNP	0.556	C
CUL1	8454	genome.wustl.edu	37	7	148484186	148484186	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A5U3-01A-11D-A28B-09	TCGA-LP-A5U3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83db6019-579d-4875-a935-6878ed5119e2	9fa979c3-9393-464e-a0b4-56b84ddfca32	g.chr7:148484186G>A	ENST00000325222.4	+	13	1732	c.1453G>A	c.(1453-1455)Gaa>Aaa	p.E485K	CUL1_ENST00000602748.1_Missense_Mutation_p.E485K|CUL1_ENST00000409469.1_Missense_Mutation_p.E485K	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	485					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|negative regulation of cell proliferation (GO:0008285)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|viral process (GO:0016032)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|SCF ubiquitin ligase complex (GO:0019005)		p.E485K(4)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			TGACGATGCCGAAGCCAGCAT	0.458																																																	4	Substitution - Missense(4)	urinary_tract(2)|lung(1)|central_nervous_system(1)											80.0	73.0	76.0					7																	148484186		2203	4300	6503	SO:0001583	missense	8454			U58087	CCDS34772.1	7q36.1	2011-05-24			ENSG00000055130	ENSG00000055130			2551	protein-coding gene	gene with protein product		603134				8681378	Standard	NM_003592		Approved		uc003wey.3	Q13616	OTTHUMG00000152776	ENST00000325222.4:c.1453G>A	7.37:g.148484186G>A	ENSP00000326804:p.Glu485Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DWG3|O60719|Q08AL6|Q8IYW1	Missense_Mutation	SNP	pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology	p.E485K	ENST00000325222.4	37	c.1453	CCDS34772.1	7	.	.	.	.	.	.	.	.	.	.	G	33	5.288263	0.95517	.	.	ENSG00000055130	ENST00000409469;ENST00000325222;ENST00000543583;ENST00000433865	D;D	0.86865	-2.18;-2.18	5.5	5.5	0.81552	Cullin, N-terminal (1);Cullin homology (3);	0.047140	0.85682	D	0.000000	D	0.95847	0.8648	H	0.95745	3.715	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.98	D	0.96814	0.9599	10	0.87932	D	0	-0.8542	19.4118	0.94677	0.0:0.0:1.0:0.0	.	412;485	E7EWR0;Q13616	.;CUL1_HUMAN	K	485;485;443;412	ENSP00000387160:E485K;ENSP00000326804:E485K	ENSP00000326804:E485K	E	+	1	0	CUL1	148115119	1.000000	0.71417	0.913000	0.36048	0.576000	0.36127	9.497000	0.97970	2.595000	0.87683	0.655000	0.94253	GAA	CUL1	-	pfam_Cullin_N,superfamily_Cullin_homology,smart_Cullin_homology,pfscan_Cullin_homology		0.458	CUL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CUL1	HGNC	protein_coding	OTTHUMT00000467785.1	G	NM_003592		148484186	+1	no_errors	ENST00000325222	ensembl	human	known	70_37	missense	SNP	1.000	A
ELK1	2002	genome.wustl.edu	37	X	47500685	47500685	+	Silent	SNP	C	C	T			TCGA-LP-A5U3-01A-11D-A28B-09	TCGA-LP-A5U3-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83db6019-579d-4875-a935-6878ed5119e2	9fa979c3-9393-464e-a0b4-56b84ddfca32	g.chrX:47500685C>T	ENST00000247161.3	-	2	255	c.156G>A	c.(154-156)aaG>aaA	p.K52K	ELK1_ENST00000343894.4_Silent_p.K52K|ELK1_ENST00000592066.1_5'UTR|ELK1_ENST00000376983.3_Silent_p.K52K	NM_005229.4	NP_005220.2	P19419	ELK1_HUMAN	ELK1, member of ETS oncogene family	52					cell differentiation (GO:0030154)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|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)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	10						TCATGTTGGTCTTGTTCTTGC	0.552																																																	0													127.0	100.0	109.0					X																	47500685		2203	4300	6503	SO:0001819	synonymous_variant	2002			M25269	CCDS14283.1, CCDS59165.1	Xp11.23	2010-07-20			ENSG00000126767	ENSG00000126767			3321	protein-coding gene	gene with protein product		311040				2539641	Standard	NM_001114123		Approved		uc010nhv.4	P19419	OTTHUMG00000021452	ENST00000247161.3:c.156G>A	X.37:g.47500685C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R7H4|O75606|O95058|Q969X8|Q9UJM4	Silent	SNP	pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets	p.K52	ENST00000247161.3	37	c.156	CCDS14283.1	X																																																																																			ELK1	-	pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets		0.552	ELK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ELK1	HGNC	protein_coding	OTTHUMT00000056436.1	C	NM_005229		47500685	-1	no_errors	ENST00000247161	ensembl	human	known	70_37	silent	SNP	1.000	T
CTB-180A7.8	0	genome.wustl.edu	37	19	6400228	6400228	+	lincRNA	SNP	G	G	T			TCGA-LP-A5U3-01A-11D-A28B-09	TCGA-LP-A5U3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83db6019-579d-4875-a935-6878ed5119e2	9fa979c3-9393-464e-a0b4-56b84ddfca32	g.chr19:6400228G>T	ENST00000398173.3	+	0	313																											GAGTTTGAGCGCATCGTGAGT	0.602																																																	0																																												0																															19.37:g.6400228G>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000398173.3	37	NULL		19																																																																																			CTB-180A7.8	-	-		0.602	CTB-180A7.8-201	KNOWN	basic	lincRNA	ENSG00000214347	Clone_based_vega_gene	lincRNA		G			6400228	+1	no_errors	ENST00000398173	ensembl	human	known	70_37	rna	SNP	0.072	T
OVCH1-AS1	101055625	genome.wustl.edu	37	12	29542605	29542605	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A5U3-01A-11D-A28B-09	TCGA-LP-A5U3-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83db6019-579d-4875-a935-6878ed5119e2	9fa979c3-9393-464e-a0b4-56b84ddfca32	g.chr12:29542605C>T	ENST00000551108.1	+	1	379	c.167C>T	c.(166-168)gCg>gTg	p.A56V						OVCH1 antisense RNA 1																		GAACGCCGCGCGGCGGAGGCC	0.721																																																	0																																										SO:0001583	missense	0					12p11.22	2013-05-30			ENSG00000257599	ENSG00000257599		"""Long non-coding RNAs"""	44484	non-coding RNA	RNA, long non-coding							Standard	NR_073170		Approved				OTTHUMG00000169323	ENST00000551108.1:c.167C>T	12.37:g.29542605C>T	ENSP00000449101:p.Ala56Val	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.A56V	ENST00000551108.1	37	c.167		12	.	.	.	.	.	.	.	.	.	.	C	11.52	1.661770	0.29515	.	.	ENSG00000257599	ENST00000551108	.	.	.	1.98	-3.96	0.04106	.	.	.	.	.	T	0.33760	0.0874	.	.	.	.	.	.	.	.	.	.	.	.	T	0.46373	-0.9196	4	0.87932	D	0	.	3.5993	0.08019	0.0:0.3086:0.3022:0.3892	.	.	.	.	V	56	.	ENSP00000449101:A56V	A	+	2	0	RP11-677C1.2	29433872	0.011000	0.17503	0.000000	0.03702	0.094000	0.18550	-0.210000	0.09345	-0.623000	0.05618	0.134000	0.15878	GCG	RP11-677C1.2	-	NULL		0.721	OVCH1-AS1-002	PUTATIVE	basic|appris_principal	protein_coding	ENSG00000257599	Clone_based_vega_gene	protein_coding	OTTHUMT00000403500.1	C			29542605	+1	no_errors	ENST00000551108	ensembl	human	putative	70_37	missense	SNP	0.000	T
F9	2158	genome.wustl.edu	37	X	138633230	138633230	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A5U3-01A-11D-A28B-09	TCGA-LP-A5U3-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83db6019-579d-4875-a935-6878ed5119e2	9fa979c3-9393-464e-a0b4-56b84ddfca32	g.chrX:138633230C>T	ENST00000218099.2	+	6	537	c.530C>T	c.(529-531)cCa>cTa	p.P177L	F9_ENST00000394090.2_Missense_Mutation_p.P139L	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	177					blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|blood coagulation, intrinsic pathway (GO:0007597)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Menadione(DB00170)	GTGCCATTTCCATGTGGAAGA	0.368																																																	0			GRCh37	CM940526	F9	M							87.0	75.0	79.0					X																	138633230		2203	4300	6503	SO:0001583	missense	2158			M11309	CCDS14666.1	Xq26.3-q27.1	2014-09-17	2008-08-01		ENSG00000101981	ENSG00000101981	3.4.21.22		3551	protein-coding gene	gene with protein product	"""Factor IX"", ""plasma thromboplastic component"", ""Christmas disease"", ""hemophilia B"""	300746					Standard	NM_000133		Approved	FIX	uc004fas.1	P00740	OTTHUMG00000022536	ENST00000218099.2:c.530C>T	X.37:g.138633230C>T	ENSP00000218099:p.Pro177Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K9N4|F2RM36|Q5FBE1|Q5JYJ8	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_GLA_domain,pfam_EG-like_dom,superfamily_Pept_cys/ser_Trypsin-like,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Peptidase_S1_S6,pirsf_Pept_S1A_FX,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A,prints_GLA_domain	p.P177L	ENST00000218099.2	37	c.530	CCDS14666.1	X	.	.	.	.	.	.	.	.	.	.	C	20.9	4.070052	0.76301	.	.	ENSG00000101981	ENST00000218099;ENST00000394090	D;D	0.93076	-3.16;-3.16	5.13	5.13	0.70059	.	0.165500	0.53938	D	0.000055	D	0.96485	0.8853	M	0.77712	2.385	0.80722	D	1	D;D	0.89917	1.0;0.996	D;P	0.77004	0.989;0.846	D	0.97134	0.9820	10	0.87932	D	0	.	16.2347	0.82365	0.0:1.0:0.0:0.0	.	139;177	Q5FBE1;P00740	.;FA9_HUMAN	L	177;139	ENSP00000218099:P177L;ENSP00000377650:P139L	ENSP00000218099:P177L	P	+	2	0	F9	138460896	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.515000	0.60489	2.136000	0.66102	0.529000	0.55759	CCA	F9	-	pirsf_Pept_S1A_FX		0.368	F9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F9	HGNC	protein_coding	OTTHUMT00000058557.1	C			138633230	+1	no_errors	ENST00000218099	ensembl	human	known	70_37	missense	SNP	1.000	T
FAM13B	51306	genome.wustl.edu	37	5	137323214	137323214	+	Missense_Mutation	SNP	G	G	T			TCGA-LP-A5U3-01A-11D-A28B-09	TCGA-LP-A5U3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83db6019-579d-4875-a935-6878ed5119e2	9fa979c3-9393-464e-a0b4-56b84ddfca32	g.chr5:137323214G>T	ENST00000033079.3	-	9	1433	c.982C>A	c.(982-984)Caa>Aaa	p.Q328K	FAM13B_ENST00000420893.2_Missense_Mutation_p.Q328K|FAM13B_ENST00000425075.2_Missense_Mutation_p.Q210K	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN	family with sequence similarity 13, member B	328					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			endometrium(4)|kidney(2)|lung(5)	11						ACCACACTTTGCTGTTGTAAA	0.328																																																	0													111.0	97.0	102.0					5																	137323214		2203	4299	6502	SO:0001583	missense	51306			AF251038	CCDS4195.1, CCDS47269.1, CCDS47270.1	5q31	2011-09-07	2009-01-20	2009-01-20	ENSG00000031003	ENSG00000031003		"""Rho GTPase activating proteins"""	1335	protein-coding gene	gene with protein product		609371	"""chromosome 5 open reading frame 5"", ""family with sequence similarity 13, member B1"""	C5orf5, FAM13B1		11087669, 11161817	Standard	NM_016603		Approved	N61, KHCHP, ARHGAP49	uc003lbz.2	Q9NYF5	OTTHUMG00000129202	ENST00000033079.3:c.982C>A	5.37:g.137323214G>T	ENSP00000033079:p.Gln328Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DQB5|G3V0H9|Q3ZCR0|Q6PGQ2|Q9P0I7	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.Q328K	ENST00000033079.3	37	c.982	CCDS4195.1	5	.	.	.	.	.	.	.	.	.	.	G	3.700	-0.061761	0.07317	.	.	ENSG00000031003	ENST00000033079;ENST00000425075;ENST00000420893	T;T;T	0.22134	3.11;1.97;3.1	5.38	4.48	0.54585	.	0.566447	0.18764	N	0.131806	T	0.15392	0.0371	L	0.34521	1.04	0.35370	D	0.78896	B;B;B	0.23249	0.082;0.006;0.02	B;B;B	0.24394	0.053;0.015;0.014	T	0.08146	-1.0736	10	0.05833	T	0.94	-4.2131	14.213	0.65776	0.0:0.1492:0.8508:0.0	.	210;328;328	G3V0H9;Q9NYF5-2;Q9NYF5	.;.;FA13B_HUMAN	K	328;210;328	ENSP00000033079:Q328K;ENSP00000394669:Q210K;ENSP00000388521:Q328K	ENSP00000033079:Q328K	Q	-	1	0	FAM13B	137351113	1.000000	0.71417	1.000000	0.80357	0.778000	0.44026	4.050000	0.57404	1.206000	0.43276	0.650000	0.86243	CAA	FAM13B	-	NULL		0.328	FAM13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM13B	HGNC	protein_coding	OTTHUMT00000251279.1	G			137323214	-1	no_errors	ENST00000033079	ensembl	human	known	70_37	missense	SNP	0.998	T
FLJ36000	284124	genome.wustl.edu	37	17	21911182	21911182	+	lincRNA	SNP	G	G	A			TCGA-LP-A5U3-01A-11D-A28B-09	TCGA-LP-A5U3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83db6019-579d-4875-a935-6878ed5119e2	9fa979c3-9393-464e-a0b4-56b84ddfca32	g.chr17:21911182G>A	ENST00000581223.2	+	0	1907					NR_027084.1																						gttctcatgtggagcagaacc	0.557																																																	0																																												284124																															17.37:g.21911182G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000581223.2	37	NULL		17																																																																																			RP11-744K17.9	-	-		0.557	RP11-744K17.9-001	KNOWN	basic	lincRNA	FLJ36000	Clone_based_vega_gene	lincRNA	OTTHUMT00000451067.1	G			21911182	+1	no_errors	ENST00000581223	ensembl	human	known	70_37	rna	SNP	0.000	A
FOSB	2354	genome.wustl.edu	37	19	45974502	45974502	+	Missense_Mutation	SNP	A	A	C			TCGA-LP-A5U3-01A-11D-A28B-09	TCGA-LP-A5U3-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83db6019-579d-4875-a935-6878ed5119e2	9fa979c3-9393-464e-a0b4-56b84ddfca32	g.chr19:45974502A>C	ENST00000353609.3	+	3	1090	c.498A>C	c.(496-498)aaA>aaC	p.K166N	FOSB_ENST00000443841.2_Intron|ERCC1_ENST00000423698.2_Intron|FOSB_ENST00000591858.1_Missense_Mutation_p.K127N|FOSB_ENST00000585836.1_Intron|FOSB_ENST00000586615.1_Missense_Mutation_p.K117N|FOSB_ENST00000417353.2_Intron|FOSB_ENST00000590335.1_3'UTR|FOSB_ENST00000592436.1_Missense_Mutation_p.K166N|FOSB_ENST00000592811.1_Missense_Mutation_p.K117N	NM_006732.2	NP_006723.2	P53539	FOSB_HUMAN	FBJ murine osteosarcoma viral oncogene homolog B	166	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				cellular response to calcium ion (GO:0071277)|cellular response to hormone stimulus (GO:0032870)|female pregnancy (GO:0007565)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|response to cAMP (GO:0051591)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|response to morphine (GO:0043278)|response to progesterone (GO:0032570)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)	13		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00814)|Epithelial(262;0.18)|GBM - Glioblastoma multiforme(486;0.242)		AACGAAATAAACTAGCAGCAG	0.607																																																	0													65.0	45.0	52.0					19																	45974502		2181	4270	6451	SO:0001583	missense	2354				CCDS12664.1, CCDS46113.1	19q13.3	2013-01-10						"""basic leucine zipper proteins"""	3797	protein-coding gene	gene with protein product	"""oncogene FOS-B"", ""activator protein 1"""	164772				1301997	Standard	NM_006732		Approved	G0S3, GOSB, GOS3, AP-1, MGC42291, DKFZp686C0818	uc002pbx.4	P53539		ENST00000353609.3:c.498A>C	19.37:g.45974502A>C	ENSP00000245919:p.Lys166Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K9K5|A8VJE1|A8VJE6|A8VJF0|A8VJF3|A8VJF7|A8VJG1|A8VJG5|A8VJG9|E7EPR6|E9PHJ3|K7EMJ6|Q49AD7	Missense_Mutation	SNP	pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos	p.K166N	ENST00000353609.3	37	c.498	CCDS12664.1	19	.	.	.	.	.	.	.	.	.	.	A	18.83	3.707673	0.68615	.	.	ENSG00000125740	ENST00000353609;ENST00000455928	T	0.57907	0.37	4.19	-1.94	0.07571	Basic-leucine zipper (bZIP) transcription factor (3);bZIP transcription factor, bZIP-1 (1);	0.000000	0.85682	D	0.000000	T	0.73560	0.3602	M	0.93638	3.44	0.54753	D	0.999984	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.996	T	0.74954	-0.3488	10	0.87932	D	0	-9.6953	9.2482	0.37539	0.6197:0.0:0.3803:0.0	.	127;166	A8VJF0;P53539	.;FOSB_HUMAN	N	166	ENSP00000245919:K166N	ENSP00000245919:K166N	K	+	3	2	FOSB	50666342	0.003000	0.15002	0.995000	0.50966	0.796000	0.44982	-0.034000	0.12225	-0.234000	0.09782	-0.366000	0.07423	AAA	FOSB	-	pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos		0.607	FOSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOSB	HGNC	protein_coding	OTTHUMT00000459561.1	A	NM_006732		45974502	+1	no_errors	ENST00000353609	ensembl	human	known	70_37	missense	SNP	0.985	C
FOXL1	2300	genome.wustl.edu	37	16	86612401	86612401	+	Silent	SNP	G	G	A			TCGA-LP-A5U3-01A-11D-A28B-09	TCGA-LP-A5U3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83db6019-579d-4875-a935-6878ed5119e2	9fa979c3-9393-464e-a0b4-56b84ddfca32	g.chr16:86612401G>A	ENST00000320241.3	+	1	287	c.72G>A	c.(70-72)gaG>gaA	p.E24E		NM_005250.2	NP_005241.1	Q12952	FOXL1_HUMAN	forkhead box L1	24					heart development (GO:0007507)|multicellular organismal development (GO:0007275)|organ morphogenesis (GO:0009887)|Peyer's patch morphogenesis (GO:0061146)|proteoglycan biosynthetic process (GO:0030166)|regulation of Wnt signaling pathway (GO:0030111)|transcription, DNA-templated (GO:0006351)|visceral mesoderm-endoderm interaction involved in midgut development (GO:0007495)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(2)|prostate(3)|skin(1)|urinary_tract(1)	15						ACGGTCCCGAGAGACCCGGCC	0.701																																					NSCLC(163;308 2020 10889 11476 18208)												0													33.0	38.0	36.0					16																	86612401		2193	4295	6488	SO:0001819	synonymous_variant	2300			AF315075	CCDS10959.1	16q24	2014-07-15			ENSG00000176678	ENSG00000176678		"""Forkhead boxes"""	3817	protein-coding gene	gene with protein product		603252		FKHL11		7957066	Standard	NM_005250		Approved	FREAC7, FKH6	uc002fjr.3	Q12952	OTTHUMG00000137653	ENST00000320241.3:c.72G>A	16.37:g.86612401G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q17RR1|Q9H242	Silent	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.E24	ENST00000320241.3	37	c.72	CCDS10959.1	16																																																																																			FOXL1	-	NULL		0.701	FOXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXL1	HGNC	protein_coding	OTTHUMT00000269105.2	G	NM_005250		86612401	+1	no_errors	ENST00000320241	ensembl	human	known	70_37	silent	SNP	0.753	A
FTHL17	53940	genome.wustl.edu	37	X	31089910	31089910	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A5U3-01A-11D-A28B-09	TCGA-LP-A5U3-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83db6019-579d-4875-a935-6878ed5119e2	9fa979c3-9393-464e-a0b4-56b84ddfca32	g.chrX:31089910C>T	ENST00000359202.3	-	1	260	c.161G>A	c.(160-162)cGc>cAc	p.R54H		NM_031894.2	NP_114100.1	Q9BXU8	FHL17_HUMAN	ferritin, heavy polypeptide-like 17	54	Ferritin-like diiron. {ECO:0000255|PROSITE-ProRule:PRU00085}.				cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)		ferric iron binding (GO:0008199)			endometrium(2)|large_intestine(2)|liver(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	23						CAGGAAGTAGCGGAAGAAGTT	0.567																																																	0													89.0	79.0	83.0					X																	31089910		2202	4300	6502	SO:0001583	missense	53940			AF285592	CCDS14227.1	Xp21.2	2010-07-06			ENSG00000132446	ENSG00000132446			3987	protein-coding gene	gene with protein product	"""cancer/testis antigen 38"""	300308				11279525	Standard	NM_031894		Approved	CT38	uc004dcl.1	Q9BXU8	OTTHUMG00000021332	ENST00000359202.3:c.161G>A	X.37:g.31089910C>T	ENSP00000368207:p.Arg54His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6NT24|Q6NTE2	Missense_Mutation	SNP	pfam_Ferritin_DPS_dom,superfamily_Ferritin/RNR-like,pfscan_Ferritin-like_diiron	p.R54H	ENST00000359202.3	37	c.161	CCDS14227.1	X	.	.	.	.	.	.	.	.	.	.	C	6.008	0.369844	0.11352	.	.	ENSG00000132446	ENST00000359202	T	0.67171	-0.25	3.43	-6.86	0.01676	Ferritin/ribonucleotide reductase-like (1);Ferritin-related (1);Ferritin/DPS protein domain (1);Ferritin-like (1);	3.081050	0.00885	N	0.002161	T	0.39279	0.1072	N	0.10618	0.005	0.09310	N	1	B	0.14805	0.011	B	0.10450	0.005	T	0.37079	-0.9721	10	0.21014	T	0.42	.	2.7547	0.05289	0.1893:0.1847:0.0913:0.5348	.	54	Q9BXU8	FHL17_HUMAN	H	54	ENSP00000368207:R54H	ENSP00000368207:R54H	R	-	2	0	FTHL17	30999831	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	0.325000	0.19628	-3.593000	0.00135	-1.101000	0.02118	CGC	FTHL17	-	pfam_Ferritin_DPS_dom,superfamily_Ferritin/RNR-like,pfscan_Ferritin-like_diiron		0.567	FTHL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FTHL17	HGNC	protein_coding	OTTHUMT00000056178.1	C	NM_031894		31089910	-1	no_errors	ENST00000359202	ensembl	human	known	70_37	missense	SNP	0.000	T
GNAI3	2773	genome.wustl.edu	37	1	110128858	110128858	+	Missense_Mutation	SNP	A	A	G			TCGA-LP-A5U3-01A-11D-A28B-09	TCGA-LP-A5U3-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83db6019-579d-4875-a935-6878ed5119e2	9fa979c3-9393-464e-a0b4-56b84ddfca32	g.chr1:110128858A>G	ENST00000369851.4	+	6	721	c.611A>G	c.(610-612)cAa>cGa	p.Q204R		NM_006496.3	NP_006487.1	P08754	GNAI3_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3	204					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|negative regulation of adenylate cyclase activity (GO:0007194)|platelet activation (GO:0030168)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle fusion (GO:0006906)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane raft (GO:0045121)|midbody (GO:0030496)|plasma membrane (GO:0005886)|zymogen granule (GO:0042588)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.046)|Colorectal(144;0.119)|Epithelial(280;0.139)|all cancers(265;0.147)|LUSC - Lung squamous cell carcinoma(189;0.237)		GTAGGTGGCCAAAGATCAGAA	0.448																																																	0													250.0	202.0	218.0					1																	110128858		2203	4300	6503	SO:0001583	missense	2773			M27543	CCDS802.1	1p13	2012-10-02			ENSG00000065135	ENSG00000065135			4387	protein-coding gene	gene with protein product		139370				3109953	Standard	NM_006496		Approved	87U6	uc001dxz.3	P08754	OTTHUMG00000011648	ENST00000369851.4:c.611A>G	1.37:g.110128858A>G	ENSP00000358867:p.Gln204Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	P17539|Q5TZX1	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,prints_Fungi_GproteinA	p.Q204R	ENST00000369851.4	37	c.611	CCDS802.1	1	.	.	.	.	.	.	.	.	.	.	A	28.8	4.955174	0.92726	.	.	ENSG00000065135	ENST00000369851	D	0.91011	-2.77	5.02	5.02	0.67125	.	0.104658	0.64402	D	0.000003	D	0.96172	0.8752	H	0.94385	3.53	0.80722	D	1	D	0.71674	0.998	D	0.91635	0.999	D	0.97357	0.9967	10	0.87932	D	0	.	14.7149	0.69259	1.0:0.0:0.0:0.0	.	204	P08754	GNAI3_HUMAN	R	204	ENSP00000358867:Q204R	ENSP00000358867:Q204R	Q	+	2	0	GNAI3	109930381	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.014000	0.59158	0.477000	0.44152	CAA	GNAI3	-	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su		0.448	GNAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNAI3	HGNC	protein_coding	OTTHUMT00000032222.1	A	NM_006496		110128858	+1	no_errors	ENST00000369851	ensembl	human	known	70_37	missense	SNP	1.000	G
GPATCH2L	55668	genome.wustl.edu	37	14	76621155	76621155	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A5U3-01A-11D-A28B-09	TCGA-LP-A5U3-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83db6019-579d-4875-a935-6878ed5119e2	9fa979c3-9393-464e-a0b4-56b84ddfca32	g.chr14:76621155C>T	ENST00000261530.7	+	2	515	c.449C>T	c.(448-450)tCa>tTa	p.S150L	GPATCH2L_ENST00000312858.5_Missense_Mutation_p.S150L|GPATCH2L_ENST00000557263.1_Missense_Mutation_p.S150L|GPATCH2L_ENST00000556663.1_Missense_Mutation_p.S150L	NM_017926.2	NP_060396.2	Q9NWQ4	GPT2L_HUMAN	G patch domain containing 2-like	150																	CTGAAGGTGTCAGATTGGAGC	0.547																																																	0													62.0	61.0	61.0					14																	76621155		2203	4300	6503	SO:0001583	missense	55668			AK000696	CCDS9848.1, CCDS9849.1	14q24.3	2012-09-25	2012-09-25	2012-09-25	ENSG00000089916	ENSG00000089916			20210	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 118"""	C14orf118		10574461	Standard	NM_017926		Approved	FLJ20689, FLJ10033	uc001xsh.3	Q9NWQ4	OTTHUMG00000171490	ENST00000261530.7:c.449C>T	14.37:g.76621155C>T	ENSP00000261530:p.Ser150Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KN42|Q6PEJ7|Q9H3M3|Q9NWH0|Q9ULR8	Missense_Mutation	SNP	NULL	p.S150L	ENST00000261530.7	37	c.449	CCDS9848.1	14	.	.	.	.	.	.	.	.	.	.	C	31	5.063885	0.93898	.	.	ENSG00000089916	ENST00000336993;ENST00000557263;ENST00000312858;ENST00000261530;ENST00000556663	T;T;T;T	0.48201	0.85;0.83;0.82;0.85	5.57	5.57	0.84162	.	0.080653	0.52532	D	0.000077	T	0.57095	0.2030	L	0.34521	1.04	0.80722	D	1	P;D;D	0.67145	0.936;0.978;0.996	P;P;P	0.61477	0.737;0.806;0.889	T	0.52852	-0.8520	10	0.37606	T	0.19	-23.5419	19.5549	0.95342	0.0:1.0:0.0:0.0	.	150;150;150	Q9NWQ4-1;Q9NWQ4-4;Q9NWQ4	.;.;CN118_HUMAN	L	150	ENSP00000451587:S150L;ENSP00000323775:S150L;ENSP00000261530:S150L;ENSP00000450657:S150L	ENSP00000261530:S150L	S	+	2	0	C14orf118	75690908	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.959000	0.76031	2.622000	0.88805	0.655000	0.94253	TCA	GPATCH2L	-	NULL		0.547	GPATCH2L-003	KNOWN	basic|CCDS	protein_coding	GPATCH2L	HGNC	protein_coding	OTTHUMT00000413698.2	C	NM_017926		76621155	+1	no_errors	ENST00000261530	ensembl	human	known	70_37	missense	SNP	1.000	T
GPR173	54328	genome.wustl.edu	37	X	53106806	53106806	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A5U3-01A-11D-A28B-09	TCGA-LP-A5U3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83db6019-579d-4875-a935-6878ed5119e2	9fa979c3-9393-464e-a0b4-56b84ddfca32	g.chrX:53106806G>A	ENST00000332582.4	+	2	1494	c.1003G>A	c.(1003-1005)Gtc>Atc	p.V335I		NM_018969.5	NP_061842.1	Q9NS66	GP173_HUMAN	G protein-coupled receptor 173	335					negative regulation of neuron migration (GO:2001223)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|gonadotropin-releasing hormone receptor activity (GO:0004968)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)	16						CCAGGCTGCCGTCAACCCAAT	0.612																																																	0													71.0	56.0	61.0					X																	53106806		2203	4300	6503	SO:0001583	missense	54328			AB040801	CCDS14349.1	Xp11	2012-08-21	2006-02-15		ENSG00000184194	ENSG00000184194		"""GPCR / Class A : Orphans"""	18186	protein-coding gene	gene with protein product		300253	"""G-protein coupled receptor 173"", ""G protein coupled receptor 173"""			10833454	Standard	NM_018969		Approved	SREB3	uc004dru.3	Q9NS66	OTTHUMG00000021596	ENST00000332582.4:c.1003G>A	X.37:g.53106806G>A	ENSP00000331600:p.Val335Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	B1B0A5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.V335I	ENST00000332582.4	37	c.1003	CCDS14349.1	X	.	.	.	.	.	.	.	.	.	.	G	12.79	2.045047	0.36085	.	.	ENSG00000184194	ENST00000332582	T	0.36340	1.26	5.26	5.26	0.73747	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.33265	0.0857	L	0.43701	1.375	0.80722	D	1	P	0.44478	0.836	B	0.42112	0.376	T	0.05178	-1.0901	10	0.20519	T	0.43	-20.2073	15.3014	0.73955	0.0:0.0:1.0:0.0	.	335	Q9NS66	GP173_HUMAN	I	335	ENSP00000331600:V335I	ENSP00000331600:V335I	V	+	1	0	GPR173	53123531	1.000000	0.71417	0.970000	0.41538	0.991000	0.79684	6.792000	0.75125	2.203000	0.70933	0.523000	0.50628	GTC	GPR173	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.612	GPR173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR173	HGNC	protein_coding	OTTHUMT00000056717.2	G	NM_018969		53106806	+1	no_errors	ENST00000332582	ensembl	human	known	70_37	missense	SNP	0.999	A
GPRASP1	9737	genome.wustl.edu	37	X	101910193	101910193	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A5U3-01A-11D-A28B-09	TCGA-LP-A5U3-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83db6019-579d-4875-a935-6878ed5119e2	9fa979c3-9393-464e-a0b4-56b84ddfca32	g.chrX:101910193C>T	ENST00000361600.5	+	5	2153	c.1352C>T	c.(1351-1353)gCt>gTt	p.A451V	GPRASP1_ENST00000444152.1_Missense_Mutation_p.A451V|GPRASP1_ENST00000537097.1_Missense_Mutation_p.A451V|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000415986.1_Missense_Mutation_p.A451V	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	451					endosome to lysosome transport (GO:0008333)|G-protein coupled receptor catabolic process (GO:1990172)	cytoplasm (GO:0005737)				NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GGGACTGGGGCTAGCAGTAAA	0.512																																																	0													113.0	101.0	105.0					X																	101910193		2203	4300	6503	SO:0001583	missense	9737			AB007903	CCDS35352.1	Xq22.1	2014-03-21			ENSG00000198932	ENSG00000198932		"""Armadillo repeat containing"""	24834	protein-coding gene	gene with protein product		300417				9455477, 15086532, 16221301	Standard	NM_014710		Approved	GASP, GASP1	uc010nod.3	Q5JY77	OTTHUMG00000022061	ENST00000361600.5:c.1352C>T	X.37:g.101910193C>T	ENSP00000355146:p.Ala451Val	Somatic		WXS	Illumina HiSeq	Phase_IV	O43168|Q96LA1	Missense_Mutation	SNP	pfam_ARM-rpt_dom,superfamily_ARM-type_fold	p.A451V	ENST00000361600.5	37	c.1352	CCDS35352.1	X	.	.	.	.	.	.	.	.	.	.	C	5.935	0.356527	0.11239	.	.	ENSG00000198932	ENST00000415986;ENST00000444152;ENST00000361600;ENST00000537097	T;T;T;T	0.09445	2.98;2.98;2.98;2.98	2.9	2.9	0.33743	.	.	.	.	.	T	0.06600	0.0169	L	0.29908	0.895	0.09310	N	1	B	0.34103	0.437	B	0.27500	0.08	T	0.29701	-1.0003	9	0.23891	T	0.37	-0.7657	6.532	0.22332	0.2865:0.7135:0.0:0.0	.	451	Q5JY77	GASP1_HUMAN	V	451	ENSP00000393691:A451V;ENSP00000409420:A451V;ENSP00000355146:A451V;ENSP00000445683:A451V	ENSP00000355146:A451V	A	+	2	0	GPRASP1	101796849	0.000000	0.05858	0.003000	0.11579	0.012000	0.07955	0.068000	0.14531	1.718000	0.51419	0.519000	0.50382	GCT	GPRASP1	-	NULL		0.512	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRASP1	HGNC	protein_coding	OTTHUMT00000057634.2	C	NM_014710		101910193	+1	no_errors	ENST00000361600	ensembl	human	known	70_37	missense	SNP	0.001	T
GUCY1A3	2982	genome.wustl.edu	37	4	156632318	156632318	+	Missense_Mutation	SNP	C	C	T	rs139274399		TCGA-LP-A5U3-01A-11D-A28B-09	TCGA-LP-A5U3-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83db6019-579d-4875-a935-6878ed5119e2	9fa979c3-9393-464e-a0b4-56b84ddfca32	g.chr4:156632318C>T	ENST00000296518.7	+	6	1210	c.1001C>T	c.(1000-1002)aCg>aTg	p.T334M	GUCY1A3_ENST00000513574.1_Missense_Mutation_p.T334M|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.T334M|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.T334M|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.T334M|GUCY1A3_ENST00000393832.3_Missense_Mutation_p.T76M|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.T334M			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	334					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of cGMP biosynthetic process (GO:0030828)|regulation of blood pressure (GO:0008217)|relaxation of vascular smooth muscle (GO:0060087)|response to defense-related host nitric oxide production (GO:0052565)	guanylate cyclase complex, soluble (GO:0008074)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		ATCAACCAGACGTTTAGCGGG	0.388																																																	0								C	MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR	0,4406		0,0,2203	79.0	81.0	80.0		1001,1001,1001,1001,296,1001,1001	4.9	0.0	4	dbSNP_134	80	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	GUCY1A3	NM_000856.4,NM_001130682.1,NM_001130683.2,NM_001130684.1,NM_001130685.1,NM_001130686.1,NM_001130687.1	81,81,81,81,81,81,81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	334/691,334/691,334/691,334/691,99/456,334/367,334/625	156632318	1,13005	2203	4300	6503	SO:0001583	missense	2982				CCDS34085.1, CCDS54812.1	4q31.3-q33	2008-03-18				ENSG00000164116	4.6.1.2		4685	protein-coding gene	gene with protein product		139396		GUC1A3		1352257	Standard	NM_001130687		Approved	GC-SA3	uc003iow.3	Q02108		ENST00000296518.7:c.1001C>T	4.37:g.156632318C>T	ENSP00000296518:p.Thr334Met	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DP19|D6RDW3|O43843|Q8TAH3	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_Haem_no_assoc-bd,pfam_Heme_NO-bd,superfamily_A/G_cyclase,superfamily_NO_sig/Golgi_transp_ligand-bd,smart_A/G_cyclase,pfscan_A/G_cyclase	p.T334M	ENST00000296518.7	37	c.1001	CCDS34085.1	4	.	.	.	.	.	.	.	.	.	.	C	15.96	2.988120	0.53934	0.0	1.16E-4	ENSG00000164116	ENST00000506455;ENST00000511108;ENST00000511507;ENST00000455639;ENST00000393832;ENST00000296518;ENST00000513574	D;D;D;D;D;D;D	0.89415	-2.51;-2.51;-2.51;-2.51;-2.51;-2.51;-2.51	5.76	4.91	0.64330	Haem NO binding associated (1);	0.089115	0.48767	D	0.000166	D	0.94739	0.8302	M	0.84948	2.725	0.26334	N	0.977476	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.70935	0.971;0.971;0.971	D	0.90118	0.4197	10	0.72032	D	0.01	.	16.6591	0.85236	0.1308:0.8692:0.0:0.0	.	334;334;334	B3KU69;Q02108;D6RDW3	.;GCYA3_HUMAN;.	M	334;334;334;334;76;334;334	ENSP00000424361:T334M;ENSP00000421493:T334M;ENSP00000426968:T334M;ENSP00000412201:T334M;ENSP00000377418:T76M;ENSP00000296518:T334M;ENSP00000426040:T334M	ENSP00000296518:T334M	T	+	2	0	GUCY1A3	156851768	0.947000	0.32204	0.030000	0.17652	0.856000	0.48823	2.751000	0.47508	1.566000	0.49654	0.643000	0.83706	ACG	GUCY1A3	-	pfam_Haem_no_assoc-bd		0.388	GUCY1A3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GUCY1A3	HGNC	protein_coding	OTTHUMT00000365786.2	C			156632318	+1	no_errors	ENST00000296518	ensembl	human	known	70_37	missense	SNP	0.315	T
HCCAT5	283902	genome.wustl.edu	37	16	73127411	73127411	+	lincRNA	SNP	C	C	T	rs373706877		TCGA-LP-A5U3-01A-11D-A28B-09	TCGA-LP-A5U3-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83db6019-579d-4875-a935-6878ed5119e2	9fa979c3-9393-464e-a0b4-56b84ddfca32	g.chr16:73127411C>T	ENST00000569990.2	+	0	817					NR_027756.1				hepatocellular carcinoma associated transcript 5 (non-protein coding)																		GTCATAGCTGCGCCCTGTCCA	0.572																																																	0								C		0,3936		0,0,1968	43.0	45.0	45.0			1.8	0.0	16		45	1,8273		0,1,4136	no	intergenic				0,1,6104	TT,TC,CC		0.0121,0.0,0.0082			73127411	1,12209	1968	4137	6105			283902					16q22.3	2014-06-20			ENSG00000260880	ENSG00000260880		"""Long non-coding RNAs"""	48612	non-coding RNA	RNA, long non-coding	"""hepatoma associated gene"""	615613				20130911, 23314567	Standard	NR_027756		Approved	HTA, FJ222407			OTTHUMG00000172964		16.37:g.73127411C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000569990.2	37	NULL		16																																																																																			RP11-346C20.2	-	-		0.572	HCCAT5-001	KNOWN	basic	lincRNA	HTA	Clone_based_vega_gene	lincRNA	OTTHUMT00000440524.1	C	NR_027756		73127411	+1	no_errors	ENST00000569990	ensembl	human	known	70_37	rna	SNP	0.003	T
HTR5A	3361	genome.wustl.edu	37	7	154862923	154862923	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A5U3-01A-11D-A28B-09	TCGA-LP-A5U3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83db6019-579d-4875-a935-6878ed5119e2	9fa979c3-9393-464e-a0b4-56b84ddfca32	g.chr7:154862923G>A	ENST00000287907.2	+	1	890	c.314G>A	c.(313-315)cGc>cAc	p.R105H	HTR5A-AS1_ENST00000395731.2_Missense_Mutation_p.R31C|HTR5A-AS1_ENST00000543018.1_Missense_Mutation_p.R31C|HTR5A-AS1_ENST00000493904.1_5'UTR	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	105					cAMP-mediated signaling (GO:0019933)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hippocampus development (GO:0021766)|response to estradiol (GO:0032355)|serotonin receptor signaling pathway (GO:0007210)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	serotonin receptor activity (GO:0004993)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	Asenapine(DB06216)|Loxapine(DB00408)|Olanzapine(DB00334)	CTGTCCGGGCGCCGCTGGCAG	0.677																																																	0													47.0	40.0	42.0					7																	154862923		2203	4299	6502	SO:0001583	missense	3361				CCDS5936.1	7q36.1	2012-08-08	2012-02-03		ENSG00000157219	ENSG00000157219		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5300	protein-coding gene	gene with protein product		601305	"""5-hydroxytryptamine (serotonin) receptor 5A"""			7988681	Standard	NM_024012		Approved	5-HT5A	uc003wlu.2	P47898	OTTHUMG00000151327	ENST00000287907.2:c.314G>A	7.37:g.154862923G>A	ENSP00000287907:p.Arg105His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2M2D2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_5HT5A_rcpt,prints_5HT_rcpt	p.R105H	ENST00000287907.2	37	c.314	CCDS5936.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.49|18.49	3.635016|3.635016	0.67130|0.67130	.|.	.|.	ENSG00000220575|ENSG00000157219	ENST00000395731;ENST00000543018|ENST00000287907	.|T	.|0.72167	.|-0.63	4.52|4.52	4.52|4.52	0.55395|0.55395	.|GPCR, rhodopsin-like superfamily (1);	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.64461|0.64461	0.2600|0.2600	L|L	0.56396|0.56396	1.775|1.775	0.58432|0.58432	D|D	0.999999|0.999999	P|B	0.42735|0.33238	0.788|0.403	B|B	0.33042|0.32149	0.157|0.141	T|T	0.63585|0.63585	-0.6604|-0.6604	9|10	0.87932|0.31617	D|T	0|0.26	.|.	11.9524|11.9524	0.52962|0.52962	0.0833:0.0:0.9166:0.0|0.0833:0.0:0.9166:0.0	.|.	31|105	B7Z8E6|P47898	.|5HT5A_HUMAN	C|H	31|105	.|ENSP00000287907:R105H	ENSP00000379080:R31C|ENSP00000287907:R105H	R|R	-|+	1|2	0|0	AC093726.4|HTR5A	154493856|154493856	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.972000|0.972000	0.66771|0.66771	7.416000|7.416000	0.80143|0.80143	2.338000|2.338000	0.79540|0.79540	0.563000|0.563000	0.77884|0.77884	CGC|CGC	HTR5A	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.677	HTR5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR5A	HGNC	protein_coding	OTTHUMT00000322240.1	G	NM_024012		154862923	+1	no_errors	ENST00000287907	ensembl	human	known	70_37	missense	SNP	1.000	A
ICMT	23463	genome.wustl.edu	37	1	6283548	6283548	+	3'UTR	DEL	A	A	-	rs142874431	byFrequency	TCGA-LP-A5U3-01A-11D-A28B-09	TCGA-LP-A5U3-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83db6019-579d-4875-a935-6878ed5119e2	9fa979c3-9393-464e-a0b4-56b84ddfca32	g.chr1:6283548delA	ENST00000343813.5	-	0	2475				ICMT_ENST00000495791.1_5'UTR	NM_012405.3	NP_036537.1	O60725	ICMT_HUMAN	isoprenylcysteine carboxyl methyltransferase						C-terminal protein methylation (GO:0006481)|cellular protein modification process (GO:0006464)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|multicellular organism growth (GO:0035264)|positive regulation of cell proliferation (GO:0008284)|protein targeting to membrane (GO:0006612)|regulation of Ras protein signal transduction (GO:0046578)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	cAMP response element binding protein binding (GO:0008140)|protein C-terminal carboxyl O-methyltransferase activity (GO:0003880)|protein C-terminal S-isoprenylcysteine carboxyl O-methyltransferase activity (GO:0004671)			NS(1)|endometrium(2)	3	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;2.4e-22)|all_lung(118;2.65e-08)|Lung NSC(185;6.45e-07)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000688)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;5.52e-38)|GBM - Glioblastoma multiforme(13;6.51e-32)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;7.08e-08)|COAD - Colon adenocarcinoma(227;8.35e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		TTAAGCCATGAAATCTAGAAA	0.373													AAA|AAA|AA|deletion	576	0.115016	0.0113	0.1138	5008	,	,		19381	0.1706		0.1431	False		,,,				2504	0.1697																0																																										SO:0001624	3_prime_UTR_variant	23463			AF064084	CCDS61.1	1p36	2010-04-29			ENSG00000116237	ENSG00000116237	2.1.1.100		5350	protein-coding gene	gene with protein product	"""protein-S-isoprenylcysteine O-methyltransferase"""	605851				9614111, 10441503	Standard	XM_005263437		Approved	PCCMT, HSTE14, PPMT	uc001amk.3	O60725	OTTHUMG00000001254	ENST00000343813.5:c.*1592T>-	1.37:g.6283548delA		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6FHT0	RNA	DEL	-	NULL	ENST00000343813.5	37	NULL	CCDS61.1	1																																																																																			ICMT	-	-		0.373	ICMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ICMT	HGNC	protein_coding	OTTHUMT00000003681.1	A	NM_012405		6283548	-1	no_errors	ENST00000483852	ensembl	human	known	70_37	rna	DEL	0.867	-
ITGAD	3681	genome.wustl.edu	37	16	31434714	31434714	+	Silent	SNP	C	C	T			TCGA-LP-A5U3-01A-11D-A28B-09	TCGA-LP-A5U3-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83db6019-579d-4875-a935-6878ed5119e2	9fa979c3-9393-464e-a0b4-56b84ddfca32	g.chr16:31434714C>T	ENST00000389202.2	+	25	2950	c.2901C>T	c.(2899-2901)aaC>aaT	p.N967N		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	967					activated T cell proliferation (GO:0050798)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)	cell surface (GO:0009986)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TCAGCATTAACTTCTGGGTTC	0.527																																																	0													177.0	152.0	160.0					16																	31434714		2197	4300	6497	SO:0001819	synonymous_variant	3681			U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886		"""CD molecules"", ""Integrins"""	6146	protein-coding gene	gene with protein product		602453				8666289, 9598326	Standard	NM_005353		Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.2901C>T	16.37:g.31434714C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q15575|Q15576	Silent	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.N967	ENST00000389202.2	37	c.2901	CCDS32438.1	16																																																																																			ITGAD	-	pfam_Integrin_alpha-2		0.527	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGAD	HGNC	protein_coding	OTTHUMT00000432836.1	C	NM_005353		31434714	+1	no_errors	ENST00000389202	ensembl	human	known	70_37	silent	SNP	0.012	T
ITGB4	3691	genome.wustl.edu	37	17	73728256	73728256	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A5U3-01A-11D-A28B-09	TCGA-LP-A5U3-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83db6019-579d-4875-a935-6878ed5119e2	9fa979c3-9393-464e-a0b4-56b84ddfca32	g.chr17:73728256C>T	ENST00000200181.3	+	12	1577	c.1390C>T	c.(1390-1392)Cgg>Tgg	p.R464W	ITGB4_ENST00000450894.3_Missense_Mutation_p.R464W|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000579662.1_Missense_Mutation_p.R464W|ITGB4_ENST00000339591.3_Missense_Mutation_p.R464W|ITGB4_ENST00000449880.2_Missense_Mutation_p.R464W	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	464	Cysteine-rich tandem repeats.				amelogenesis (GO:0097186)|autophagy (GO:0006914)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell motility (GO:0048870)|cell-matrix adhesion (GO:0007160)|digestive tract development (GO:0048565)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|mesodermal cell differentiation (GO:0048333)|nail development (GO:0035878)|renal system development (GO:0072001)|response to wounding (GO:0009611)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|hemidesmosome (GO:0030056)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor binding (GO:0001664)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			AAAAGAGGTGCGGTCAGCTCG	0.627																																																	0													118.0	100.0	106.0					17																	73728256		2203	4300	6503	SO:0001583	missense	3691				CCDS11727.1, CCDS32736.1, CCDS58599.1	17q25.1	2013-09-19			ENSG00000132470	ENSG00000132470		"""CD molecules"", ""Integrins"", ""Fibronectin type III domain containing"""	6158	protein-coding gene	gene with protein product		147557				2070796	Standard	XM_005257309		Approved	CD104	uc002jpg.3	P16144	OTTHUMG00000179814	ENST00000200181.3:c.1390C>T	17.37:g.73728256C>T	ENSP00000200181:p.Arg464Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Missense_Mutation	SNP	pfam_Integrin_bsu_N,pfam_Fibronectin_type3,pfam_Calx_beta,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Fibronectin_type3,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like,smart_Integrin_bsu_N,smart_Calx_beta,smart_Fibronectin_type3,pirsf_Integrin_bsu-4,pfscan_Fibronectin_type3,prints_Integrin_bsu	p.R464W	ENST00000200181.3	37	c.1390	CCDS11727.1	17	.	.	.	.	.	.	.	.	.	.	C	11.17	1.559657	0.27827	.	.	ENSG00000132470	ENST00000450894;ENST00000200181;ENST00000339591;ENST00000449880	T;T;T	0.75260	-0.92;-0.87;-0.87	5.16	4.12	0.48240	.	1.114660	0.06797	N	0.788114	T	0.76969	0.4062	M	0.62723	1.935	0.09310	N	1	P;D;D;D;D	0.60160	0.84;0.987;0.986;0.976;0.976	B;B;P;B;B	0.49047	0.121;0.279;0.599;0.394;0.394	T	0.65405	-0.6176	10	0.72032	D	0.01	.	7.746	0.28869	0.3302:0.5897:0.0:0.0801	.	424;464;464;464;464	B4E3N0;P16144-5;P16144-3;A0AVL6;P16144	.;.;.;.;ITB4_HUMAN	W	380;464;464;464	ENSP00000200181:R464W;ENSP00000344079:R464W;ENSP00000400217:R464W	ENSP00000200181:R464W	R	+	1	2	ITGB4	71239851	0.000000	0.05858	0.876000	0.34364	0.938000	0.57974	0.025000	0.13577	2.402000	0.81655	0.655000	0.94253	CGG	ITGB4	-	pirsf_Integrin_bsu-4		0.627	ITGB4-001	KNOWN	basic|CCDS	protein_coding	ITGB4	HGNC	protein_coding	OTTHUMT00000448334.1	C			73728256	+1	no_errors	ENST00000200181	ensembl	human	known	70_37	missense	SNP	0.001	T
KIAA1217	56243	genome.wustl.edu	37	10	24835047	24835047	+	Missense_Mutation	SNP	C	C	T	rs375951552		TCGA-LP-A5U3-01A-11D-A28B-09	TCGA-LP-A5U3-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83db6019-579d-4875-a935-6878ed5119e2	9fa979c3-9393-464e-a0b4-56b84ddfca32	g.chr10:24835047C>T	ENST00000376454.3	+	21	5656	c.5626C>T	c.(5626-5628)Ctt>Ttt	p.L1876F	KIAA1217_ENST00000458595.1_Missense_Mutation_p.L1282F|KIAA1217_ENST00000376451.2_3'UTR|KIAA1217_ENST00000376452.3_Missense_Mutation_p.L1307F|KIAA1217_ENST00000396445.1_3'UTR|KIAA1217_ENST00000376462.1_Missense_Mutation_p.L1197F	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	1876	Ser-rich. {ECO:0000255}.				embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						AGGTCACCATCTTTCATTCTC	0.522																																																	0								C	PHE/LEU,PHE/LEU,PHE/LEU	0,4406		0,0,2203	167.0	148.0	155.0		3589,3724,5626	4.8	0.5	10		155	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	KIAA1217	NM_001098500.1,NM_001098501.1,NM_019590.3	22,22,22	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	1197/1265,1242/1310,1876/1944	24835047	1,13005	2203	4300	6503	SO:0001583	missense	56243			BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"""sickle tail"""					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.5626C>T	10.37:g.24835047C>T	ENSP00000365637:p.Leu1876Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Missense_Mutation	SNP	pfam_AIP3_C	p.L1876F	ENST00000376454.3	37	c.5626	CCDS31165.1	10	.	.	.	.	.	.	.	.	.	.	C	18.19	3.568373	0.65651	0.0	1.16E-4	ENSG00000120549	ENST00000376462;ENST00000458595;ENST00000376454;ENST00000376452;ENST00000450158	T;T;T;T	0.39997	1.07;1.05;1.37;1.06	4.79	4.79	0.61399	.	0.077805	0.52532	D	0.000065	T	0.61899	0.2384	M	0.64997	1.995	0.34330	D	0.687608	D;D;D;D	0.89917	0.999;0.998;1.0;0.999	D;P;D;D	0.72338	0.962;0.854;0.977;0.962	T	0.70490	-0.4857	10	0.39692	T	0.17	.	17.9076	0.88923	0.0:1.0:0.0:0.0	.	1282;1307;1876;1277	Q5T5P2-7;A6NLF3;Q5T5P2;Q5T5P2-2	.;.;SKT_HUMAN;.	F	1197;1282;1876;1307;1465	ENSP00000365645:L1197F;ENSP00000392625:L1282F;ENSP00000365637:L1876F;ENSP00000365635:L1307F	ENSP00000365635:L1307F	L	+	1	0	KIAA1217	24875053	1.000000	0.71417	0.515000	0.27774	0.923000	0.55619	7.304000	0.78882	2.233000	0.73108	0.650000	0.86243	CTT	KIAA1217	-	NULL		0.522	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1217	HGNC	protein_coding	OTTHUMT00000047223.2	C	NM_019590		24835047	+1	no_errors	ENST00000376454	ensembl	human	known	70_37	missense	SNP	1.000	T
MAGI1	9223	genome.wustl.edu	37	3	65365084	65365084	+	Missense_Mutation	SNP	G	G	C			TCGA-LP-A5U3-01A-11D-A28B-09	TCGA-LP-A5U3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83db6019-579d-4875-a935-6878ed5119e2	9fa979c3-9393-464e-a0b4-56b84ddfca32	g.chr3:65365084G>C	ENST00000497477.2	-	17	2846	c.2847C>G	c.(2845-2847)agC>agG	p.S949R	MAGI1_ENST00000402939.2_Missense_Mutation_p.S949R|MAGI1_ENST00000330909.8_Missense_Mutation_p.S977R|MAGI1_ENST00000483466.1_Missense_Mutation_p.S977R			Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	977					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		tgccgatgccgctggtgctgc	0.697																																																	0													31.0	32.0	31.0					3																	65365084		2203	4300	6503	SO:0001583	missense	9223			AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"""BAI1-associated protein 1"""	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000497477.2:c.2847C>G	3.37:g.65365084G>C	ENSP00000424369:p.Ser949Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Missense_Mutation	SNP	pfam_PDZ,pfam_WW_Rsp5_WWP,pfam_Guanylate_kin,superfamily_PDZ,superfamily_WW_Rsp5_WWP,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,smart_WW_Rsp5_WWP,pfscan_PDZ,pfscan_WW_Rsp5_WWP,pfscan_Guanylate_kin	p.S949R	ENST00000497477.2	37	c.2847		3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.08|17.08	3.298848|3.298848	0.60195|0.60195	.|.	.|.	ENSG00000151276|ENSG00000151276	ENST00000460329|ENST00000402939;ENST00000330909;ENST00000422949;ENST00000463103;ENST00000483466;ENST00000497477;ENST00000472257	.|T;T;T;T;T;T	.|0.19250	.|2.58;2.21;2.22;2.22;2.16;2.23	5.33|5.33	-1.84|-1.84	0.07809|0.07809	.|.	.|0.366898	.|0.31809	.|N	.|0.007029	T|T	0.19005|0.19005	0.0456|0.0456	L|L	0.36672|0.36672	1.1|1.1	0.52099|0.52099	D|D	0.999949|0.999949	.|B;P;P;P;P	.|0.45531	.|0.208;0.828;0.86;0.609;0.605	.|B;P;B;B;B	.|0.48425	.|0.232;0.577;0.442;0.357;0.442	T|T	0.02877|0.02877	-1.1099|-1.1099	5|10	.|0.23891	.|T	.|0.37	-6.3013|-6.3013	11.7381|11.7381	0.51778|0.51778	0.5582:0.0:0.4418:0.0|0.5582:0.0:0.4418:0.0	.|.	.|977;949;977;949;977	.|A8K188;Q96QZ7-4;Q96QZ7-3;Q96QZ7-2;Q96QZ7-5	.|.;.;.;.;.	G|R	858|949;977;873;852;977;949;735	.|ENSP00000385450:S949R;ENSP00000331157:S977R;ENSP00000418177:S852R;ENSP00000420323:S977R;ENSP00000424369:S949R;ENSP00000420796:S735R	.|ENSP00000331157:S977R	A|S	-|-	2|3	0|2	MAGI1|MAGI1	65340124|65340124	0.459000|0.459000	0.25768|0.25768	0.994000|0.994000	0.49952|0.49952	0.896000|0.896000	0.52359|0.52359	-0.308000|-0.308000	0.08156|0.08156	-0.232000|-0.232000	0.09811|0.09811	0.460000|0.460000	0.39030|0.39030	GCG|AGC	MAGI1	-	NULL		0.697	MAGI1-007	NOVEL	basic|exp_conf	protein_coding	MAGI1	HGNC	protein_coding	OTTHUMT00000349132.2	G	NM_004742		65365084	-1	no_errors	ENST00000402939	ensembl	human	known	70_37	missense	SNP	0.986	C
MGA	23269	genome.wustl.edu	37	15	41961606	41961606	+	Nonsense_Mutation	SNP	C	C	T			TCGA-LP-A5U3-01A-11D-A28B-09	TCGA-LP-A5U3-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83db6019-579d-4875-a935-6878ed5119e2	9fa979c3-9393-464e-a0b4-56b84ddfca32	g.chr15:41961606C>T	ENST00000570161.1	+	1	514	c.514C>T	c.(514-516)Caa>Taa	p.Q172*	MGA_ENST00000545763.1_Nonsense_Mutation_p.Q172*|MGA_ENST00000566586.1_Nonsense_Mutation_p.Q172*|MGA_ENST00000389936.4_Nonsense_Mutation_p.Q172*|MGA_ENST00000568630.1_Intron|MGA_ENST00000219905.7_Nonsense_Mutation_p.Q172*			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TTGGATGCATCAACCAGTATC	0.453																																																	0													252.0	249.0	250.0					15																	41961606		1925	4127	6052	SO:0001587	stop_gained	23269			AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.514C>T	15.37:g.41961606C>T	ENSP00000457035:p.Gln172*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q0VAX6|Q75ME7|Q86UM5	Nonsense_Mutation	SNP	pfam_TF_T-box,pfam_HLH_dom,superfamily_p53-like_TF_DNA-bd,superfamily_HLH_dom,smart_TF_T-box,smart_HLH_dom,pfscan_HLH_dom,pfscan_TF_T-box,prints_TF_T-box	p.Q172*	ENST00000570161.1	37	c.514	CCDS55959.1	15	.	.	.	.	.	.	.	.	.	.	C	37	6.021232	0.97211	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	.	.	.	6.06	5.11	0.69529	.	0.149487	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	16.8247	0.85927	0.1291:0.8709:0.0:0.0	.	.	.	.	X	172	.	ENSP00000219905:Q172X	Q	+	1	0	MGA	39748898	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.518000	0.45537	2.882000	0.98803	0.655000	0.94253	CAA	MGA	-	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box		0.453	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MGA	HGNC	protein_coding	OTTHUMT00000420229.1	C	NM_001164273.1		41961606	+1	no_errors	ENST00000219905	ensembl	human	known	70_37	nonsense	SNP	1.000	T
MRPL44	65080	genome.wustl.edu	37	2	224824575	224824575	+	Silent	SNP	C	C	T			TCGA-LP-A5U3-01A-11D-A28B-09	TCGA-LP-A5U3-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83db6019-579d-4875-a935-6878ed5119e2	9fa979c3-9393-464e-a0b4-56b84ddfca32	g.chr2:224824575C>T	ENST00000258383.3	+	2	573	c.504C>T	c.(502-504)caC>caT	p.H168H		NM_022915.3	NP_075066.1	Q9H9J2	RM44_HUMAN	mitochondrial ribosomal protein L44	168	RNase III.				mitochondrial translational elongation (GO:0070125)|RNA processing (GO:0006396)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|ribonuclease III activity (GO:0004525)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		all_lung(227;0.00679)|Lung NSC(271;0.00855)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;2.51e-10)|all cancers(144;7.89e-08)|Lung(261;0.00705)|LUSC - Lung squamous cell carcinoma(224;0.008)		TCGTGTGTCACGTGGCTAGAA	0.478																																																	0													107.0	106.0	107.0					2																	224824575		2203	4300	6503	SO:0001819	synonymous_variant	65080			AK022763	CCDS2459.1	2p24.3-p24.1	2012-09-13			ENSG00000135900	ENSG00000135900		"""Mitochondrial ribosomal proteins / large subunits"""	16650	protein-coding gene	gene with protein product	"""39S ribosomal protein L44, mitochondrial"""	611849					Standard	NM_022915		Approved	FLJ12701, FLJ13990	uc002vnr.4	Q9H9J2	OTTHUMG00000133164	ENST00000258383.3:c.504C>T	2.37:g.224824575C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q53S16|Q6IA62|Q9H821	Silent	SNP	superfamily_RNase_III_dom,pfscan_Ds-RNA-bd	p.H168	ENST00000258383.3	37	c.504	CCDS2459.1	2																																																																																			MRPL44	-	superfamily_RNase_III_dom		0.478	MRPL44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL44	HGNC	protein_coding	OTTHUMT00000256866.2	C	NM_022915		224824575	+1	no_errors	ENST00000258383	ensembl	human	known	70_37	silent	SNP	0.046	T
MRRFP1	286423	genome.wustl.edu	37	X	122251028	122251028	+	IGR	SNP	C	C	T			TCGA-LP-A5U3-01A-11D-A28B-09	TCGA-LP-A5U3-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83db6019-579d-4875-a935-6878ed5119e2	9fa979c3-9393-464e-a0b4-56b84ddfca32	g.chrX:122251028C>T								U3 (276531 upstream) : GRIA3 (66977 downstream)																							TGGCCAGTTTCACCAGCATTT	0.453																																																	0																																										SO:0001628	intergenic_variant	286423																															X.37:g.122251028C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Ribosome_recyc_fac_dom,superfamily_Ribosome_recyc_fac_dom	p.V194		37	c.582		X																																																																																			MRRFP1	-	pfam_Ribosome_recyc_fac_dom,superfamily_Ribosome_recyc_fac_dom	0	0.453					MRRFP1	HGNC			C			122251028	-1	no_errors	ENST00000435941	ensembl	human	known	70_37	silent	SNP	0.995	T
MUC12	10071	genome.wustl.edu	37	7	100645601	100645601	+	Silent	SNP	C	C	T			TCGA-LP-A5U3-01A-11D-A28B-09	TCGA-LP-A5U3-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83db6019-579d-4875-a935-6878ed5119e2	9fa979c3-9393-464e-a0b4-56b84ddfca32	g.chr7:100645601C>T	ENST00000379442.3	+	5	12186	c.12186C>T	c.(12184-12186)acC>acT	p.T4062T	MUC12_ENST00000536621.1_Silent_p.T3919T			Q9UKN1	MUC12_HUMAN	mucin 12, cell surface associated	4062	28 X 19 AA approximate tandem repeats of E-E-S-X-X-X-H-X-X-P-X-X-T-X-T-X-X-X-P.|Ser-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|regulation of cell growth (GO:0001558)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)				breast(6)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)|stomach(13)	25						CAAGCTCAACCGAAACAACAA	0.547																																																	0													2.0	3.0	2.0					7																	100645601		445	1082	1527	SO:0001819	synonymous_variant	10071			AF147790, AF147791	CCDS55139.1	7q22	2007-01-17	2006-03-14		ENSG00000205277	ENSG00000205277		"""Mucins"""	7510	protein-coding gene	gene with protein product		604609	"""mucin 11"""	MUC11		10463611	Standard	NM_001164462		Approved		uc003uxo.3	Q9UKN1	OTTHUMG00000157042	ENST00000379442.3:c.12186C>T	7.37:g.100645601C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A6ND38|F5GWV9|Q9UKN0	Silent	SNP	pfam_SEA	p.T4062	ENST00000379442.3	37	c.12186		7																																																																																			MUC12	-	NULL		0.547	MUC12-001	NOVEL	basic|appris_candidate_longest	protein_coding	MUC12	HGNC	protein_coding	OTTHUMT00000347234.1	C	XM_379904		100645601	+1	no_errors	ENST00000379442	ensembl	human	known	70_37	silent	SNP	0.000	T
NHS	4810	genome.wustl.edu	37	X	17744069	17744069	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A5U3-01A-11D-A28B-09	TCGA-LP-A5U3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83db6019-579d-4875-a935-6878ed5119e2	9fa979c3-9393-464e-a0b4-56b84ddfca32	g.chrX:17744069G>A	ENST00000380060.3	+	6	2118	c.1780G>A	c.(1780-1782)Gtc>Atc	p.V594I	NHS_ENST00000398097.3_Missense_Mutation_p.V438I	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	615					cell differentiation (GO:0030154)|lens development in camera-type eye (GO:0002088)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					CACGGCTGGCGTCCTCCTTAG	0.592																																																	0													76.0	62.0	67.0					X																	17744069		2203	4300	6503	SO:0001583	missense	4810				CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158			7820	protein-coding gene	gene with protein product		300457					Standard	NM_001136024		Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	ENST00000380060.3:c.1780G>A	X.37:g.17744069G>A	ENSP00000369400:p.Val594Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Missense_Mutation	SNP	NULL	p.V594I	ENST00000380060.3	37	c.1780	CCDS14181.1	X	.	.	.	.	.	.	.	.	.	.	G	15.66	2.900314	0.52227	.	.	ENSG00000188158	ENST00000380060;ENST00000398097;ENST00000380057	T;T	0.48201	0.82;0.84	5.86	5.0	0.66597	.	0.170372	0.51477	D	0.000094	T	0.60689	0.2288	M	0.66939	2.045	0.51482	D	0.999925	P;B;B;D	0.71674	0.48;0.178;0.178;0.998	B;B;B;P	0.58130	0.071;0.042;0.042;0.833	T	0.59867	-0.7373	10	0.33940	T	0.23	-12.6421	14.0633	0.64812	0.0738:0.0:0.9262:0.0	.	615;436;438;594	B7ZVX8;C9IYM8;Q6T4R5-2;Q6T4R5	.;.;.;NHS_HUMAN	I	594;438;436	ENSP00000369400:V594I;ENSP00000381170:V438I	ENSP00000369397:V436I	V	+	1	0	NHS	17653990	1.000000	0.71417	0.841000	0.33234	0.764000	0.43329	9.476000	0.97823	1.235000	0.43724	0.600000	0.82982	GTC	NHS	-	NULL		0.592	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NHS	HGNC	protein_coding	OTTHUMT00000059120.1	G	NM_198270		17744069	+1	no_errors	ENST00000380060	ensembl	human	known	70_37	missense	SNP	0.998	A
PAK1	5058	genome.wustl.edu	37	11	77090969	77090969	+	Silent	SNP	G	G	A	rs141395962		TCGA-LP-A5U3-01A-11D-A28B-09	TCGA-LP-A5U3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83db6019-579d-4875-a935-6878ed5119e2	9fa979c3-9393-464e-a0b4-56b84ddfca32	g.chr11:77090969G>A	ENST00000356341.3	-	3	792	c.261C>T	c.(259-261)gtC>gtT	p.V87V	PAK1_ENST00000530617.1_Silent_p.V87V|PAK1_ENST00000278568.4_Silent_p.V87V|PAK1_ENST00000528203.1_5'UTR	NM_002576.4	NP_002567.3	Q13153	PAK1_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 1	87	Autoregulatory region.|CRIB. {ECO:0000255|PROSITE- ProRule:PRU00057}.|GTPase-binding.				actin cytoskeleton reorganization (GO:0031532)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cellular response to insulin stimulus (GO:0032869)|dendrite development (GO:0016358)|exocytosis (GO:0006887)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor clustering (GO:0043113)|response to hypoxia (GO:0001666)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|wound healing (GO:0042060)	axon (GO:0030424)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|intercalated disc (GO:0014704)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|Z disc (GO:0030018)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29	all_cancers(14;1.75e-18)					CATCAAAACCGACATGAATTG	0.418																																																	0								G	,	1,4399	2.1+/-5.4	0,1,2199	122.0	115.0	118.0		261,261	-1.2	1.0	11	dbSNP_134	118	0,8584		0,0,4292	no	coding-synonymous,coding-synonymous	PAK1	NM_001128620.1,NM_002576.4	,	0,1,6491	AA,AG,GG		0.0,0.0227,0.0077	,	87/554,87/546	77090969	1,12983	2200	4292	6492	SO:0001819	synonymous_variant	5058			U51120	CCDS8250.1, CCDS44687.1	11q13-q14	2008-06-17	2008-06-17						8590	protein-coding gene	gene with protein product	"""STE20 homolog, yeast"""	602590	"""p21/Cdc42/Rac1-activated kinase 1 (yeast Ste20-related)"", ""p21/Cdc42/Rac1-activated kinase 1 (STE20 homolog, yeast)"""			8805275, 9533029	Standard	NM_002576		Approved		uc001oyg.4	Q13153		ENST00000356341.3:c.261C>T	11.37:g.77090969G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	O75561|Q13567|Q32M53|Q32M54|Q86W79	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PAK_box_Rho-bd,superfamily_Kinase-like_dom,superfamily_WASP_C,smart_PAK_box_Rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_PAK_box_Rho-bd,pfscan_Prot_kinase_cat_dom	p.V87	ENST00000356341.3	37	c.261	CCDS8250.1	11																																																																																			PAK1	-	pfam_PAK_box_Rho-bd,superfamily_WASP_C,smart_PAK_box_Rho-bd,pfscan_PAK_box_Rho-bd		0.418	PAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAK1	HGNC	protein_coding	OTTHUMT00000382083.2	G	NM_002576		77090969	-1	no_errors	ENST00000278568	ensembl	human	known	70_37	silent	SNP	1.000	A
PCGF3	10336	genome.wustl.edu	37	4	727716	727716	+	Intron	SNP	G	G	A			TCGA-LP-A5U3-01A-11D-A28B-09	TCGA-LP-A5U3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83db6019-579d-4875-a935-6878ed5119e2	9fa979c3-9393-464e-a0b4-56b84ddfca32	g.chr4:727716G>A	ENST00000362003.5	+	4	504				PCGF3_ENST00000400151.2_Missense_Mutation_p.D83N|PCGF3_ENST00000470161.2_Intron|PCGF3_ENST00000482726.1_Intron|PCGF3_ENST00000521023.2_5'UTR|PCGF3_ENST00000505655.2_Intron	NM_006315.4	NP_006306.2	Q3KNV8	PCGF3_HUMAN	polycomb group ring finger 3						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|PcG protein complex (GO:0031519)	zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(1)	7						GGGCAGAGACGATCTTGAAGA	0.512																																																	0																																										SO:0001627	intron_variant	10336			AK093869	CCDS3339.2	4p16.3	2013-01-09	2005-01-17	2005-01-19	ENSG00000185619	ENSG00000185619		"""RING-type (C3HC4) zinc fingers"", ""Polycomb group ring fingers"""	10066	protein-coding gene	gene with protein product			"""ring finger protein 3"""	RNF3			Standard	XM_005272250		Approved	FLJ36550, DONG1, RNF3A, MGC40413	uc003gbe.3	Q3KNV8	OTTHUMG00000119000	ENST00000362003.5:c.109+138G>A	4.37:g.727716G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DVN1|O15262	Missense_Mutation	SNP	NULL	p.D83N	ENST00000362003.5	37	c.247	CCDS3339.2	4	.	.	.	.	.	.	.	.	.	.	G	10.36	1.328950	0.24167	.	.	ENSG00000185619	ENST00000400151	T	0.55588	0.51	2.26	1.37	0.22104	.	.	.	.	.	T	0.43433	0.1247	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	T	0.34204	-0.9838	6	0.40728	T	0.16	.	5.16	0.15056	0.1766:0.0:0.8234:0.0	.	.	.	.	N	83	ENSP00000383015:D83N	ENSP00000383015:D83N	D	+	1	0	PCGF3	717716	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	0.036000	0.13819	0.499000	0.27970	0.563000	0.77884	GAT	PCGF3	-	NULL		0.512	PCGF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCGF3	HGNC	protein_coding	OTTHUMT00000239197.2	G	NM_006315		727716	+1	no_errors	ENST00000400151	ensembl	human	putative	70_37	missense	SNP	0.001	A
PEG3	5178	genome.wustl.edu	37	19	57328826	57328826	+	Silent	SNP	C	C	T			TCGA-LP-A5U3-01A-11D-A28B-09	TCGA-LP-A5U3-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83db6019-579d-4875-a935-6878ed5119e2	9fa979c3-9393-464e-a0b4-56b84ddfca32	g.chr19:57328826C>T	ENST00000326441.9	-	10	1347	c.984G>A	c.(982-984)tcG>tcA	p.S328S	ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000423103.2_Silent_p.S328S|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Silent_p.S204S|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000593695.1_Silent_p.S202S	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	328					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TTGCTCTTCCCGATTTGGAAC	0.473																																																	0													75.0	72.0	73.0					19																	57328826		2203	4300	6503	SO:0001819	synonymous_variant	5178			AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.984G>A	19.37:g.57328826C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Silent	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.S328	ENST00000326441.9	37	c.984	CCDS12948.1	19																																																																																			PEG3	-	NULL		0.473	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PEG3	HGNC	protein_coding	OTTHUMT00000416099.2	C			57328826	-1	no_errors	ENST00000326441	ensembl	human	known	70_37	silent	SNP	0.000	T
POTEC	388468	genome.wustl.edu	37	18	14543280	14543280	+	5'Flank	SNP	C	C	G			TCGA-LP-A5U3-01A-11D-A28B-09	TCGA-LP-A5U3-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83db6019-579d-4875-a935-6878ed5119e2	9fa979c3-9393-464e-a0b4-56b84ddfca32	g.chr18:14543280C>G	ENST00000358970.5	-	0	0				POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C											NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						AACTTGCCAACCCCAGCAAGG	0.587																																																	0																																										SO:0001631	upstream_gene_variant	388468			BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963		18.37:g.14543280C>G	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000358970.5	37	NULL	CCDS45835.1	18																																																																																			POTEC	-	-		0.587	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	POTEC	HGNC	protein_coding	OTTHUMT00000371179.1	C	XM_496269		14543280	-1	no_errors	ENST00000389891	ensembl	human	known	70_37	rna	SNP	0.033	G
POU2F2	5452	genome.wustl.edu	37	19	42595605	42595605	+	3'UTR	SNP	A	A	T			TCGA-LP-A5U3-01A-11D-A28B-09	TCGA-LP-A5U3-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83db6019-579d-4875-a935-6878ed5119e2	9fa979c3-9393-464e-a0b4-56b84ddfca32	g.chr19:42595605A>T	ENST00000526816.2	-	0	1554				POU2F2_ENST00000533720.1_Missense_Mutation_p.L522Q|POU2F2_ENST00000560558.1_3'UTR|POU2F2_ENST00000342301.4_Missense_Mutation_p.L538Q|POU2F2_ENST00000560398.1_3'UTR|POU2F2_ENST00000389341.5_3'UTR|POU2F2_ENST00000529067.1_3'UTR			P09086	PO2F2_HUMAN	POU class 2 homeobox 2						cell maturation (GO:0048469)|humoral immune response (GO:0006959)|immunoglobulin secretion involved in immune response (GO:0002380)|mature B cell differentiation (GO:0002335)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)			Dolutegravir(DB08930)	GGTGCTGAGCAGGGGCAGCCC	0.682																																																	0																																										SO:0001624	3_prime_UTR_variant	5452				CCDS33035.1, CCDS56094.1, CCDS56095.1, CCDS58665.1	19q13.2	2011-06-20	2007-07-13					"""Homeoboxes / POU class"""	9213	protein-coding gene	gene with protein product		164176	"""POU domain class 2, transcription factor 2"""	OTF2			Standard	NM_001207026		Approved	OCT2	uc002osp.3	P09086		ENST00000526816.2:c.*99T>A	19.37:g.42595605A>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q16648|Q7M4M8|Q9BRS4	Missense_Mutation	SNP	pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,pfscan_Homeodomain,pfscan_POU_specific,prints_POU,prints_TF_octamer	p.L538Q	ENST00000526816.2	37	c.1613	CCDS56095.1	19	.	.	.	.	.	.	.	.	.	.	A	13.68	2.310865	0.40895	.	.	ENSG00000028277	ENST00000342301;ENST00000533720	D;D	0.86956	-2.19;-2.16	4.6	4.6	0.57074	.	.	.	.	.	D	0.91088	0.7195	.	.	.	0.80722	D	1	.	.	.	.	.	.	D	0.91977	0.5591	6	0.72032	D	0.01	.	12.9607	0.58455	1.0:0.0:0.0:0.0	.	.	.	.	Q	538;522	ENSP00000339369:L538Q;ENSP00000437221:L522Q	ENSP00000339369:L538Q	L	-	2	0	POU2F2	47287445	1.000000	0.71417	1.000000	0.80357	0.417000	0.31264	3.180000	0.50895	1.714000	0.51371	0.383000	0.25322	CTG	POU2F2	-	NULL		0.682	POU2F2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	POU2F2	HGNC	protein_coding	OTTHUMT00000387329.3	A			42595605	-1	no_errors	ENST00000342301	ensembl	human	known	70_37	missense	SNP	1.000	T
RGPD3	653489	genome.wustl.edu	37	2	107032375	107032375	+	Missense_Mutation	SNP	A	A	T	rs577151300		TCGA-LP-A5U3-01A-11D-A28B-09	TCGA-LP-A5U3-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83db6019-579d-4875-a935-6878ed5119e2	9fa979c3-9393-464e-a0b4-56b84ddfca32	g.chr2:107032375A>T	ENST00000409886.3	-	21	5082	c.4995T>A	c.(4993-4995)agT>agA	p.S1665R	RGPD3_ENST00000304514.7_Missense_Mutation_p.S1665R	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1665					protein targeting to Golgi (GO:0000042)			p.S1665R(2)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						AGTGATCTGCACTTTTTGTGG	0.403																																																	2	Substitution - Missense(2)	lung(2)											54.0	55.0	55.0					2																	107032375		692	1590	2282	SO:0001583	missense	653489				CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"""Tetratricopeptide (TTC) repeat domain containing"""	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.4995T>A	2.37:g.107032375A>T	ENSP00000386588:p.Ser1665Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	B8ZZM4	Missense_Mutation	SNP	pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom	p.S1665R	ENST00000409886.3	37	c.4995	CCDS46379.1	2	.	.	.	.	.	.	.	.	.	.	.	5.476	0.272922	0.10349	.	.	ENSG00000153165	ENST00000541826;ENST00000409886;ENST00000452099;ENST00000304514	T;T	0.38722	1.12;1.12	0.701	0.701	0.18104	.	.	.	.	.	T	0.18215	0.0437	N	0.08118	0	0.24222	N	0.995435	B	0.24576	0.106	B	0.15484	0.013	T	0.15065	-1.0450	9	0.42905	T	0.14	-1.18	2.7306	0.05226	0.6703:0.0:0.3297:0.0	.	1665	A6NKT7	RGPD3_HUMAN	R	39;1665;1032;1665	ENSP00000386588:S1665R;ENSP00000303659:S1665R	ENSP00000303659:S1665R	S	-	3	2	RGPD3	106398807	1.000000	0.71417	0.995000	0.50966	0.348000	0.29142	0.832000	0.27490	0.561000	0.29186	0.138000	0.15974	AGT	RGPD3	-	NULL		0.403	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	RGPD3	HGNC	protein_coding	OTTHUMT00000329975.1	A	XM_929931		107032375	-1	no_errors	ENST00000304514	ensembl	human	known	70_37	missense	SNP	0.999	T
TATDN1	83940	genome.wustl.edu	37	8	125499264	125499264	+	IGR	SNP	C	C	G			TCGA-LP-A5U3-01A-11D-A28B-09	TCGA-LP-A5U3-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83db6019-579d-4875-a935-6878ed5119e2	9fa979c3-9393-464e-a0b4-56b84ddfca32	g.chr8:125499264C>G	ENST00000276692.6	-	0	1018				RNF139_ENST00000303545.3_Missense_Mutation_p.D458E|RP11-158K1.3_ENST00000518639.1_RNA	NM_032026.3	NP_114415.1	Q6P1N9	TATD1_HUMAN	TatD DNase domain containing 1						DNA catabolic process (GO:0006308)	intracellular organelle (GO:0043229)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	15	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			AAAAGCTTGACGATTATGTCT	0.358																																																	0													159.0	159.0	159.0					8																	125499264		2203	4300	6503	SO:0001628	intergenic_variant	11236			AF212250	CCDS6351.1, CCDS55273.1	8q24.13	2004-06-07			ENSG00000147687	ENSG00000147687			24220	protein-coding gene	gene with protein product						12477932	Standard	NM_032026		Approved	CDA11	uc003yrd.2	Q6P1N9	OTTHUMG00000165068		8.37:g.125499264C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R5J0|Q8TD02|Q9BY40	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,smart_Znf_RING,pfscan_Znf_RING	p.D458E	ENST00000276692.6	37	c.1374	CCDS6351.1	8	.	.	.	.	.	.	.	.	.	.	C	13.49	2.251698	0.39797	.	.	ENSG00000170881	ENST00000303545	T	0.28255	1.62	5.63	1.97	0.26223	.	0.000000	0.85682	D	0.000000	T	0.48857	0.1523	M	0.66939	2.045	0.58432	D	0.999995	D	0.89917	1.0	D	0.97110	1.0	T	0.44847	-0.9301	10	0.66056	D	0.02	-16.835	9.4501	0.38721	0.0:0.3423:0.0:0.6577	.	458	Q8WU17	RN139_HUMAN	E	458	ENSP00000304051:D458E	ENSP00000304051:D458E	D	+	3	2	RNF139	125568445	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	0.588000	0.23924	0.474000	0.27392	-0.150000	0.13652	GAC	RNF139	-	NULL		0.358	TATDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF139	HGNC	protein_coding	OTTHUMT00000381655.1	C	NM_032026		125499264	+1	no_errors	ENST00000303545	ensembl	human	known	70_37	missense	SNP	0.998	G
SAR1B	51128	genome.wustl.edu	37	5	133944129	133944129	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A5U3-01A-11D-A28B-09	TCGA-LP-A5U3-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83db6019-579d-4875-a935-6878ed5119e2	9fa979c3-9393-464e-a0b4-56b84ddfca32	g.chr5:133944129C>T	ENST00000402673.2	-	6	691	c.413G>A	c.(412-414)aGa>aAa	p.R138K	SAR1B_ENST00000439578.1_Missense_Mutation_p.R138K|SAR1B_ENST00000507419.1_Missense_Mutation_p.R70K|SAR1B_ENST00000509937.1_Missense_Mutation_p.R70K|SAR1B_ENST00000502539.1_Missense_Mutation_p.R70K	NM_016103.3	NP_057187.1	Q9Y6B6	SAR1B_HUMAN	secretion associated, Ras related GTPase 1B	138					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|GTP catabolic process (GO:0006184)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)			kidney(2)|lung(2)|urinary_tract(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GGCTTCAGGTCTGTCGATCTT	0.353																																																	0													108.0	95.0	99.0					5																	133944129		2203	4300	6503	SO:0001583	missense	51128			AF092130	CCDS4177.1	5q31.1	2014-03-07	2014-03-07	2005-10-21	ENSG00000152700	ENSG00000152700			10535	protein-coding gene	gene with protein product		607690	"""SAR1a gene homolog (S. cerevisiae) 2"", ""SAR1a gene homolog 2 (S. cerevisiae)"", ""SAR1 homolog B (S. cerevisiae)"""	SARA2			Standard	NM_001033503		Approved		uc003kzr.3	Q9Y6B6	OTTHUMG00000129114	ENST00000402673.2:c.413G>A	5.37:g.133944129C>T	ENSP00000385432:p.Arg138Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DQA4|Q567T4	Missense_Mutation	SNP	pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Gprotein_alpha_su,pfam_MIRO-like,pfam_Small_GTPase,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.R138K	ENST00000402673.2	37	c.413	CCDS4177.1	5	.	.	.	.	.	.	.	.	.	.	C	10.39	1.336556	0.24253	.	.	ENSG00000152700	ENST00000394992;ENST00000402673;ENST00000507419;ENST00000502539;ENST00000439578;ENST00000509937;ENST00000509730;ENST00000505758	D;D;D;D;D;D;D	0.81908	-1.55;-1.55;-1.55;-1.55;-1.55;-1.55;-1.55	5.56	5.56	0.83823	Small GTP-binding protein domain (1);	0.040079	0.85682	D	0.000000	T	0.66127	0.2758	N	0.04148	-0.265	0.58432	D	0.999991	B	0.02656	0.0	B	0.04013	0.001	T	0.64136	-0.6478	10	0.06236	T	0.91	-8.58	19.9052	0.97004	0.0:1.0:0.0:0.0	.	138	Q9Y6B6	SAR1B_HUMAN	K	70;138;70;70;138;70;70;138	ENSP00000385432:R138K;ENSP00000425339:R70K;ENSP00000426335:R70K;ENSP00000404997:R138K;ENSP00000424673:R70K;ENSP00000423197:R70K;ENSP00000425466:R138K	ENSP00000378443:R70K	R	-	2	0	SAR1B	133972028	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.812000	0.69194	2.776000	0.95493	0.655000	0.94253	AGA	SAR1B	-	pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Gprotein_alpha_su,pfam_Small_GTPase,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.353	SAR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAR1B	HGNC	protein_coding	OTTHUMT00000251158.2	C	NM_016103		133944129	-1	no_errors	ENST00000402673	ensembl	human	known	70_37	missense	SNP	1.000	T
SIX6	4990	genome.wustl.edu	37	14	60976393	60976393	+	Missense_Mutation	SNP	G	G	C	rs78954112		TCGA-LP-A5U3-01A-11D-A28B-09	TCGA-LP-A5U3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83db6019-579d-4875-a935-6878ed5119e2	9fa979c3-9393-464e-a0b4-56b84ddfca32	g.chr14:60976393G>C	ENST00000327720.5	+	1	725	c.277G>C	c.(277-279)Gaa>Caa	p.E93Q		NM_007374.2	NP_031400.2	O95475	SIX6_HUMAN	SIX homeobox 6	93					organ morphogenesis (GO:0009887)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2)	11				OV - Ovarian serous cystadenocarcinoma(108;0.088)		GCTGTGGCTTGAAGCACACTA	0.577																																																	0								G	GLN/GLU	0,4406		0,0,2203	42.0	43.0	43.0		277	5.5	1.0	14	dbSNP_131	43	1,8599	1.2+/-3.3	0,1,4299	no	missense	SIX6	NM_007374.2	29	0,1,6502	CC,CG,GG		0.0116,0.0,0.0077	benign	93/247	60976393	1,13005	2203	4300	6503	SO:0001583	missense	4990			AF141651	CCDS9747.1	14q23.1	2011-06-20	2007-07-13		ENSG00000184302	ENSG00000184302		"""Homeoboxes / SINE class"""	10892	protein-coding gene	gene with protein product		606326	"""sine oculis homeobox (Drosophila) homolog 6"", ""sine oculis homeobox homolog 6 (Drosophila)"""	OPTX2		10512683	Standard	NM_007374		Approved	Six9	uc001xfa.4	O95475	OTTHUMG00000152339	ENST00000327720.5:c.277G>C	14.37:g.60976393G>C	ENSP00000328596:p.Glu93Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6NT42|Q9P1X8	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.E93Q	ENST00000327720.5	37	c.277	CCDS9747.1	14	.	.	.	.	.	.	.	.	.	.	G	18.45	3.625724	0.66901	0.0	1.16E-4	ENSG00000184302	ENST00000327720	D	0.97303	-4.33	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.98479	0.9493	M	0.85197	2.74	0.80722	D	1	D	0.71674	0.998	D	0.66847	0.947	D	0.98974	1.0802	10	0.66056	D	0.02	.	18.6065	0.91268	0.0:0.0:1.0:0.0	.	93	O95475	SIX6_HUMAN	Q	93	ENSP00000328596:E93Q	ENSP00000328596:E93Q	E	+	1	0	SIX6	60046146	1.000000	0.71417	0.991000	0.47740	0.967000	0.64934	7.816000	0.86201	2.873000	0.98535	0.563000	0.77884	GAA	SIX6	-	NULL		0.577	SIX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIX6	HGNC	protein_coding	OTTHUMT00000276952.2	G			60976393	+1	no_errors	ENST00000327720	ensembl	human	known	70_37	missense	SNP	1.000	C
SLC22A13	9390	genome.wustl.edu	37	3	38315826	38315826	+	Missense_Mutation	SNP	C	C	G	rs555869760		TCGA-LP-A5U3-01A-11D-A28B-09	TCGA-LP-A5U3-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83db6019-579d-4875-a935-6878ed5119e2	9fa979c3-9393-464e-a0b4-56b84ddfca32	g.chr3:38315826C>G	ENST00000311856.4	+	2	491	c.442C>G	c.(442-444)Ctc>Gtc	p.L148V	SLC22A13_ENST00000450935.2_Missense_Mutation_p.L107V	NM_004256.3	NP_004247.2	Q9Y226	S22AD_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 13	148					nicotinate transport (GO:2001142)|organic cation transport (GO:0015695)|urate transport (GO:0015747)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	nicotinate transporter activity (GO:0090416)|organic cation transmembrane transporter activity (GO:0015101)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.0533)|Kidney(284;0.067)		CATGGCTGGGCTCCTTGTTGG	0.597																																																	0													204.0	176.0	185.0					3																	38315826		2203	4300	6503	SO:0001583	missense	9390			AB010438	CCDS2676.1	3p22.2	2013-07-18	2013-07-18	2003-10-15	ENSG00000172940	ENSG00000172940		"""Solute carriers"""	8494	protein-coding gene	gene with protein product		604047	"""organic cationic transporter-like 3"", ""solute carrier family 22 (organic anion transporter), member 13"""	ORCTL3		10072596, 18411268	Standard	NM_004256		Approved	OCTL1, OCTL3, OAT10	uc003chz.3	Q9Y226	OTTHUMG00000131086	ENST00000311856.4:c.442C>G	3.37:g.38315826C>G	ENSP00000310241:p.Leu148Val	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RCV9|Q8IYG1	Missense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.L148V	ENST00000311856.4	37	c.442	CCDS2676.1	3	.	.	.	.	.	.	.	.	.	.	C	15.44	2.835349	0.50951	.	.	ENSG00000172940	ENST00000311856;ENST00000450935	T;T	0.58797	0.31;1.05	5.07	5.07	0.68467	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.56307	0.1976	N	0.25380	0.74	0.36289	D	0.856295	D;D	0.54601	0.959;0.967	P;P	0.58391	0.749;0.838	T	0.52510	-0.8566	10	0.02654	T	1	.	17.4309	0.87539	0.0:1.0:0.0:0.0	.	148;148	Q9Y226-2;Q9Y226	.;S22AD_HUMAN	V	148;107	ENSP00000310241:L148V;ENSP00000406929:L107V	ENSP00000310241:L148V	L	+	1	0	SLC22A13	38290830	0.533000	0.26354	0.919000	0.36401	0.143000	0.21401	1.169000	0.31871	2.525000	0.85131	0.650000	0.86243	CTC	SLC22A13	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.597	SLC22A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A13	HGNC	protein_coding	OTTHUMT00000253746.2	C	NM_004256		38315826	+1	no_errors	ENST00000311856	ensembl	human	known	70_37	missense	SNP	1.000	G
SLC29A1	2030	genome.wustl.edu	37	6	44197647	44197647	+	Silent	SNP	C	C	T			TCGA-LP-A5U3-01A-11D-A28B-09	TCGA-LP-A5U3-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83db6019-579d-4875-a935-6878ed5119e2	9fa979c3-9393-464e-a0b4-56b84ddfca32	g.chr6:44197647C>T	ENST00000393841.1	+	6	809	c.318C>T	c.(316-318)atC>atT	p.I106I	SLC29A1_ENST00000313248.7_Silent_p.I185I|SLC29A1_ENST00000371740.5_Silent_p.I106I|SLC29A1_ENST00000371713.1_Silent_p.I106I|SLC29A1_ENST00000427851.2_Silent_p.I106I|SLC29A1_ENST00000472176.1_3'UTR|SLC29A1_ENST00000371731.1_Silent_p.I106I|SLC29A1_ENST00000371755.3_Silent_p.I106I|SLC29A1_ENST00000393844.1_Silent_p.I106I|SLC29A1_ENST00000371724.1_Silent_p.I106I|SLC29A1_ENST00000371708.1_Silent_p.I106I	NM_001078177.1	NP_001071645.1	Q99808	S29A1_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 1	106					cellular response to glucose stimulus (GO:0071333)|cellular response to hypoxia (GO:0071456)|lactation (GO:0007595)|nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|sleep (GO:0030431)|transmembrane transport (GO:0055085)|uridine transport (GO:0015862)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	17	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		Cytarabine(DB00987)|Didanosine(DB00900)|Fludarabine(DB01073)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Pemetrexed(DB00642)|Ribavirin(DB00811)|Zalcitabine(DB00943)	CCGGCAGGATCCCCCAGTCCG	0.642																																																	0													44.0	40.0	41.0					6																	44197647		2203	4300	6503	SO:0001819	synonymous_variant	2030			U81375	CCDS4908.1	6p21.1	2013-07-17	2013-07-17		ENSG00000112759	ENSG00000112759		"""Solute carriers"""	11003	protein-coding gene	gene with protein product		602193	"""solute carrier family 29 (nucleoside transporters), member 1"""	ENT1		8986748, 9344680	Standard	NM_004955		Approved		uc003owy.2	Q99808	OTTHUMG00000014759	ENST00000393841.1:c.318C>T	6.37:g.44197647C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KQV7|B3KQY5|Q5T9W9|Q9UJY2	Silent	SNP	pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt,prints_Eqnu_transpt,tigrfam_Eqnu_transpt	p.I185	ENST00000393841.1	37	c.555	CCDS4908.1	6																																																																																			SLC29A1	-	superfamily_MFS_dom_general_subst_transpt,tigrfam_Eqnu_transpt		0.642	SLC29A1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC29A1	HGNC	protein_coding	OTTHUMT00000040721.1	C			44197647	+1	no_errors	ENST00000313248	ensembl	human	known	70_37	silent	SNP	1.000	T
SNX29	92017	genome.wustl.edu	37	16	12093183	12093183	+	Silent	SNP	C	C	T			TCGA-LP-A5U3-01A-11D-A28B-09	TCGA-LP-A5U3-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83db6019-579d-4875-a935-6878ed5119e2	9fa979c3-9393-464e-a0b4-56b84ddfca32	g.chr16:12093183C>T	ENST00000566228.1	+	2	106	c.37C>T	c.(37-39)Ctg>Ttg	p.L13L		NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	13						extracellular vesicular exosome (GO:0070062)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						AAGACAATTTCTGCTGGAGCG	0.428																																																	0													93.0	84.0	87.0					16																	12093183		2197	4300	6497	SO:0001819	synonymous_variant	92017			AK074072	CCDS10553.2	16p13.13-p13.12	2011-08-16			ENSG00000048471	ENSG00000048471		"""Sorting nexins"""	30542	protein-coding gene	gene with protein product			"""RUN domain containing 2A"""	RUNDC2A		16782399	Standard	XM_005255682		Approved	FLJ12363	uc002dby.5	Q8TEQ0		ENST00000566228.1:c.37C>T	16.37:g.12093183C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B5MDW2|Q8N2X2|Q9HA26	Silent	SNP	pfam_Run,smart_Run,pfscan_Run	p.L13	ENST00000566228.1	37	c.37	CCDS10553.2	16																																																																																			SNX29	-	NULL		0.428	SNX29-005	PUTATIVE	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SNX29	HGNC	protein_coding	OTTHUMT00000422622.1	C			12093183	+1	no_errors	ENST00000268271	ensembl	human	known	70_37	silent	SNP	1.000	T
SPRR1B	6699	genome.wustl.edu	37	1	153004864	153004864	+	Nonsense_Mutation	SNP	C	C	T			TCGA-LP-A5U3-01A-11D-A28B-09	TCGA-LP-A5U3-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83db6019-579d-4875-a935-6878ed5119e2	9fa979c3-9393-464e-a0b4-56b84ddfca32	g.chr1:153004864C>T	ENST00000307098.4	+	2	108	c.43C>T	c.(43-45)Cag>Tag	p.Q15*	SPRR1B_ENST00000392661.3_Nonsense_Mutation_p.Q15*	NM_003125.2	NP_003116.2	P22528	SPR1B_HUMAN	small proline-rich protein 1B	15	2 X 12 AA approximate repeats.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|ovary(2)|skin(2)	9	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCCACCCCCTCAGCTTCAGCA	0.567																																																	0													141.0	137.0	139.0					1																	153004864		2203	4300	6503	SO:0001587	stop_gained	6699			M84757	CCDS30863.1	1q21-q22	2010-06-25	2010-06-25		ENSG00000169469	ENSG00000169469			11260	protein-coding gene	gene with protein product	"""cornifin"""	182266		SPRR1		8325635, 1438308	Standard	NM_003125		Approved	GADD33	uc001fba.3	P22528	OTTHUMG00000013869	ENST00000307098.4:c.43C>T	1.37:g.153004864C>T	ENSP00000306461:p.Gln15*	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R5H7|P22529|P22530|Q5T524	Nonsense_Mutation	SNP	pfam_Cornifin	p.Q15*	ENST00000307098.4	37	c.43	CCDS30863.1	1	.	.	.	.	.	.	.	.	.	.	C	19.24	3.789218	0.70337	.	.	ENSG00000169469	ENST00000307098;ENST00000392661	.	.	.	3.66	0.541	0.17168	.	.	.	.	.	.	.	.	.	.	.	0.44562	A	0.997524	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-0.0325	6.8603	0.24064	0.1904:0.4392:0.3704:0.0	.	.	.	.	X	15	.	ENSP00000306461:Q15X	Q	+	1	0	SPRR1B	151271488	0.007000	0.16637	0.002000	0.10522	0.965000	0.64279	0.342000	0.19926	0.129000	0.18514	0.655000	0.94253	CAG	SPRR1B	-	NULL		0.567	SPRR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPRR1B	HGNC	protein_coding	OTTHUMT00000038906.1	C	NM_003125		153004864	+1	no_errors	ENST00000307098	ensembl	human	known	70_37	nonsense	SNP	0.003	T
SULT2B1	6820	genome.wustl.edu	37	19	49102448	49102448	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A5U3-01A-11D-A28B-09	TCGA-LP-A5U3-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83db6019-579d-4875-a935-6878ed5119e2	9fa979c3-9393-464e-a0b4-56b84ddfca32	g.chr19:49102448C>T	ENST00000201586.2	+	7	1061	c.883C>T	c.(883-885)Cgt>Tgt	p.R295C	SULT2B1_ENST00000594274.1_3'UTR|SULT2B1_ENST00000323090.4_Missense_Mutation_p.R280C	NM_177973.1	NP_814444.1	O00204	ST2B1_HUMAN	sulfotransferase family, cytosolic, 2B, member 1	295					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfate assimilation (GO:0000103)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	alcohol sulfotransferase activity (GO:0004027)|steroid sulfotransferase activity (GO:0050294)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|skin(2)|urinary_tract(1)	11		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000115)|all cancers(93;0.000147)|GBM - Glioblastoma multiforme(486;0.00707)|Epithelial(262;0.0178)		AGCCTTCGATCGTGCCTACCG	0.667																																																	0													38.0	33.0	35.0					19																	49102448		2200	4297	6497	SO:0001583	missense	6820			U92314	CCDS12723.1, CCDS12724.1	19q13.3	2008-02-05				ENSG00000088002		"""Sulfotransferases, cytosolic"""	11459	protein-coding gene	gene with protein product		604125				9799594	Standard	NM_177973		Approved	HSST2	uc002pjl.3	O00204		ENST00000201586.2:c.883C>T	19.37:g.49102448C>T	ENSP00000201586:p.Arg295Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	O00205|O75814	Missense_Mutation	SNP	pfam_Sulfotransferase_dom	p.R295C	ENST00000201586.2	37	c.883	CCDS12723.1	19	.	.	.	.	.	.	.	.	.	.	C	17.37	3.372892	0.61624	.	.	ENSG00000088002	ENST00000201586;ENST00000323090	D;D	0.83250	-1.7;-1.7	5.29	-1.41	0.08941	Sulfotransferase domain (1);	0.394347	0.18169	U	0.149525	D	0.87908	0.6296	M	0.77103	2.36	0.09310	N	1	D;D	0.76494	0.999;0.999	P;D	0.63957	0.782;0.92	T	0.81337	-0.0978	10	0.72032	D	0.01	.	11.0325	0.47781	0.616:0.2709:0.1131:0.0	.	280;295	O00204-2;O00204	.;ST2B1_HUMAN	C	295;280	ENSP00000201586:R295C;ENSP00000312880:R280C	ENSP00000201586:R295C	R	+	1	0	SULT2B1	53794260	0.838000	0.29461	0.000000	0.03702	0.001000	0.01503	0.459000	0.21908	-0.248000	0.09583	-0.195000	0.12781	CGT	SULT2B1	-	pfam_Sulfotransferase_dom		0.667	SULT2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SULT2B1	HGNC	protein_coding	OTTHUMT00000466140.1	C	NM_004605		49102448	+1	no_errors	ENST00000201586	ensembl	human	known	70_37	missense	SNP	0.000	T
SYNE1	23345	genome.wustl.edu	37	6	152711581	152711581	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A5U3-01A-11D-A28B-09	TCGA-LP-A5U3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83db6019-579d-4875-a935-6878ed5119e2	9fa979c3-9393-464e-a0b4-56b84ddfca32	g.chr6:152711581G>A	ENST00000367255.5	-	53	8612	c.8011C>T	c.(8011-8013)Ctc>Ttc	p.L2671F	SYNE1_ENST00000341594.5_Missense_Mutation_p.L2710F|SYNE1_ENST00000423061.1_Missense_Mutation_p.L2678F|SYNE1_ENST00000265368.4_Missense_Mutation_p.L2671F|SYNE1_ENST00000448038.1_Missense_Mutation_p.L2678F	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2671					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTCATCAGGAGAATATCCTGG	0.393										HNSCC(10;0.0054)																																							0													100.0	84.0	89.0					6																	152711581		2203	4300	6503	SO:0001583	missense	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.8011C>T	6.37:g.152711581G>A	ENSP00000356224:p.Leu2671Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.L2671F	ENST00000367255.5	37	c.8011	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	G	12.00	1.806766	0.31961	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.60672	0.26;0.28;0.17;0.27;0.43	6.17	4.31	0.51392	.	0.224863	0.31450	N	0.007634	T	0.61515	0.2353	M	0.66939	2.045	0.80722	D	1	B;D;D;D	0.76494	0.09;0.998;0.998;0.999	B;D;D;D	0.70935	0.028;0.935;0.935;0.971	T	0.61544	-0.7041	10	0.31617	T	0.26	.	11.2052	0.48765	0.0655:0.0:0.8066:0.1279	.	2654;2671;2671;2678	B3W695;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	F	2671;2678;2671;2678;2710	ENSP00000356224:L2671F;ENSP00000396024:L2678F;ENSP00000265368:L2671F;ENSP00000390975:L2678F;ENSP00000341887:L2710F	ENSP00000265368:L2671F	L	-	1	0	SYNE1	152753274	1.000000	0.71417	1.000000	0.80357	0.179000	0.23085	5.156000	0.64905	1.632000	0.50472	-0.140000	0.14226	CTC	SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin		0.393	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	G	NM_182961		152711581	-1	no_errors	ENST00000265368	ensembl	human	known	70_37	missense	SNP	1.000	A
TCERG1	10915	genome.wustl.edu	37	5	145849278	145849278	+	Missense_Mutation	SNP	G	G	T			TCGA-LP-A5U3-01A-11D-A28B-09	TCGA-LP-A5U3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83db6019-579d-4875-a935-6878ed5119e2	9fa979c3-9393-464e-a0b4-56b84ddfca32	g.chr5:145849278G>T	ENST00000296702.5	+	7	1408	c.1370G>T	c.(1369-1371)tGg>tTg	p.W457L	TCERG1_ENST00000394421.2_Missense_Mutation_p.W436L	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	457	Glu-rich.|WW 2. {ECO:0000255|PROSITE- ProRule:PRU00224}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAATCAACCTGGGAAAAACCC	0.328																																																	0													50.0	60.0	57.0					5																	145849278		2197	4296	6493	SO:0001583	missense	10915			AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649			15630	protein-coding gene	gene with protein product	"""transcription factor CA150"", ""co-activator of 150 kDa"", ""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"", ""TATA box-binding protein-associated factor 2S"""	605409	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"""	TAF2S		9315662, 11003711	Standard	XM_005268365		Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.1370G>T	5.37:g.145849278G>T	ENSP00000296702:p.Trp457Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2NKN2|Q59EA1	Missense_Mutation	SNP	pfam_FF_domain,pfam_WW_Rsp5_WWP,superfamily_FF_domain,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_FF_domain,pfscan_WW_Rsp5_WWP	p.W457L	ENST00000296702.5	37	c.1370	CCDS4282.1	5	.	.	.	.	.	.	.	.	.	.	G	20.4	3.976360	0.74360	.	.	ENSG00000113649	ENST00000296702;ENST00000394421	D;D	0.97710	-4.5;-4.5	5.71	5.71	0.89125	WW/Rsp5/WWP (6);	0.000000	0.85682	D	0.000000	D	0.98998	0.9658	M	0.90252	3.1	0.80722	D	1	D;D;D	0.69078	0.997;0.981;0.985	D;D;D	0.81914	0.995;0.954;0.973	D	0.99497	1.0952	10	0.72032	D	0.01	-6.2202	19.8493	0.96733	0.0:0.0:1.0:0.0	.	436;436;457	B7Z921;O14776-2;O14776	.;.;TCRG1_HUMAN	L	457;436	ENSP00000296702:W457L;ENSP00000377943:W436L	ENSP00000296702:W457L	W	+	2	0	TCERG1	145829471	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.476000	0.97823	2.701000	0.92244	0.563000	0.77884	TGG	TCERG1	-	pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP		0.328	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TCERG1	HGNC	protein_coding	OTTHUMT00000251886.1	G	NM_001040006		145849278	+1	no_errors	ENST00000296702	ensembl	human	known	70_37	missense	SNP	1.000	T
TMEM132C	92293	genome.wustl.edu	37	12	129189963	129189963	+	Missense_Mutation	SNP	T	T	C			TCGA-LP-A5U3-01A-11D-A28B-09	TCGA-LP-A5U3-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83db6019-579d-4875-a935-6878ed5119e2	9fa979c3-9393-464e-a0b4-56b84ddfca32	g.chr12:129189963T>C	ENST00000435159.2	+	9	2450	c.2450T>C	c.(2449-2451)aTc>aCc	p.I817T	TMEM132C_ENST00000537538.1_Missense_Mutation_p.I202T|TMEM132C_ENST00000315208.8_Missense_Mutation_p.I433T	NM_001136103.2	NP_001129575.2	Q8N3T6	T132C_HUMAN	transmembrane protein 132C	817						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(2)|prostate(2)|skin(1)	13						GAAGATGAGATCAAGAACCAC	0.627																																																	0													22.0	30.0	27.0					12																	129189963		692	1591	2283	SO:0001583	missense	92293			AK126715		12q24.32	2014-06-13				ENSG00000181234			25436	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 152"""						Standard	NM_001136103		Approved	DKFZp761O2018, PPP1R152	uc021rgn.1	Q8N3T6		ENST00000435159.2:c.2450T>C	12.37:g.129189963T>C	ENSP00000410852:p.Ile817Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q69YX8	Missense_Mutation	SNP	NULL	p.I817T	ENST00000435159.2	37	c.2450		12	.	.	.	.	.	.	.	.	.	.	T	2.366	-0.345401	0.05208	.	.	ENSG00000181234	ENST00000435159;ENST00000315208;ENST00000537538	T;T;T	0.13196	2.61;2.61;2.61	4.78	3.61	0.41365	.	0.648000	0.13634	N	0.373474	T	0.13286	0.0322	L	0.37630	1.12	0.43156	D	0.99493	B	0.28400	0.21	B	0.35688	0.208	T	0.06588	-1.0818	10	0.14656	T	0.56	.	11.5181	0.50534	0.0:0.0:0.1505:0.8495	.	817	Q8N3T6	T132C_HUMAN	T	817;433;202	ENSP00000410852:I817T;ENSP00000324458:I433T;ENSP00000438477:I202T	ENSP00000324458:I433T	I	+	2	0	TMEM132C	127755916	0.128000	0.22383	0.027000	0.17364	0.155000	0.21991	2.554000	0.45845	0.662000	0.31006	-0.313000	0.08912	ATC	TMEM132C	-	NULL		0.627	TMEM132C-201	KNOWN	basic|appris_principal	protein_coding	TMEM132C	HGNC	protein_coding		T	XM_044062		129189963	+1	no_errors	ENST00000435159	ensembl	human	known	70_37	missense	SNP	0.702	C
TRIP11	9321	genome.wustl.edu	37	14	92474016	92474016	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A5U3-01A-11D-A28B-09	TCGA-LP-A5U3-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83db6019-579d-4875-a935-6878ed5119e2	9fa979c3-9393-464e-a0b4-56b84ddfca32	g.chr14:92474016C>T	ENST00000267622.4	-	10	1868	c.1495G>A	c.(1495-1497)Gaa>Aaa	p.E499K		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	499					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		CTGTCCAATTCTTCTATCTCA	0.358			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)			Dom	yes		14	14q31-q32	9321	thyroid hormone receptor interactor 11		L	0													152.0	147.0	149.0					14																	92474016		2202	4298	6500	SO:0001583	missense	9321			L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.1495G>A	14.37:g.92474016C>T	ENSP00000267622:p.Glu499Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RUT2|O14689|O15154|O95949	Missense_Mutation	SNP	superfamily_Ribosomal_L29,pfscan_GRIP	p.E499K	ENST00000267622.4	37	c.1495	CCDS9899.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.73|16.73	3.204062|3.204062	0.58234|0.58234	.|.	.|.	ENSG00000100815|ENSG00000100815	ENST00000267622;ENST00000542257|ENST00000554357	T|.	0.08896|.	3.04|.	6.04|6.04	5.15|5.15	0.70609|0.70609	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.72260|0.72260	0.3438|0.3438	M|M	0.65975|0.65975	2.015|2.015	0.48830|0.48830	D|D	0.999719|0.999719	B;D|.	0.57571|.	0.197;0.98|.	B;D|.	0.64776|.	0.147;0.929|.	T|T	0.72107|0.72107	-0.4390|-0.4390	10|5	0.40728|.	T|.	0.16|.	.|.	15.5041|15.5041	0.75725|0.75725	0.0:0.9339:0.0:0.0661|0.0:0.9339:0.0:0.0661	.|.	235;499|.	F5H1Z0;Q15643|.	.;TRIPB_HUMAN|.	K|K	499;235|214	ENSP00000267622:E499K|.	ENSP00000267622:E499K|.	E|R	-|-	1|2	0|0	TRIP11|TRIP11	91543769|91543769	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.175000|0.175000	0.22909|0.22909	4.852000|4.852000	0.62904|0.62904	1.569000|1.569000	0.49696|0.49696	-0.291000|-0.291000	0.09656|0.09656	GAA|AGA	TRIP11	-	NULL		0.358	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIP11	HGNC	protein_coding	OTTHUMT00000411823.1	C			92474016	-1	no_errors	ENST00000267622	ensembl	human	known	70_37	missense	SNP	1.000	T
VPS13C	54832	genome.wustl.edu	37	15	62256067	62256067	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A5U3-01A-11D-A28B-09	TCGA-LP-A5U3-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83db6019-579d-4875-a935-6878ed5119e2	9fa979c3-9393-464e-a0b4-56b84ddfca32	g.chr15:62256067C>T	ENST00000261517.5	-	32	3371	c.3298G>A	c.(3298-3300)Gaa>Aaa	p.E1100K	VPS13C_ENST00000249837.3_Missense_Mutation_p.E1057K|VPS13C_ENST00000395896.4_Missense_Mutation_p.E1100K|VPS13C_ENST00000395898.3_Missense_Mutation_p.E1057K	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)									p.E1100K(1)		NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TTGTTCTTTTCGTTGCAAACA	0.348																																																	1	Substitution - Missense(1)	large_intestine(1)											114.0	104.0	107.0					15																	62256067		2203	4300	6503	SO:0001583	missense	54832			AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.3298G>A	15.37:g.62256067C>T	ENSP00000261517:p.Glu1100Lys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_VPSAP,pfam_Autophagy-rel_C	p.E1100K	ENST00000261517.5	37	c.3298	CCDS32257.1	15	.	.	.	.	.	.	.	.	.	.	C	19.65	3.867379	0.72065	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.38401	1.14;1.14;1.14	5.66	5.66	0.87406	.	0.060437	0.64402	D	0.000004	T	0.32466	0.0830	N	0.11560	0.145	0.58432	D	0.999997	D;D;D;D	0.63880	0.991;0.98;0.993;0.976	P;P;P;B	0.52066	0.477;0.559;0.689;0.427	T	0.08534	-1.0717	10	0.17369	T	0.5	.	19.7559	0.96291	0.0:1.0:0.0:0.0	.	1057;1100;1057;1100	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	K	1057;1100;1100;1100	ENSP00000249837:E1057K;ENSP00000261517:E1100K;ENSP00000379233:E1100K	ENSP00000249837:E1057K	E	-	1	0	VPS13C	60043359	1.000000	0.71417	1.000000	0.80357	0.133000	0.20885	4.129000	0.57957	2.656000	0.90262	0.655000	0.94253	GAA	VPS13C	-	NULL		0.348	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13C	HGNC	protein_coding	OTTHUMT00000415997.1	C	NM_017684		62256067	-1	no_errors	ENST00000261517	ensembl	human	known	70_37	missense	SNP	1.000	T
VSIG10	54621	genome.wustl.edu	37	12	118520134	118520134	+	Silent	SNP	G	G	A			TCGA-LP-A5U3-01A-11D-A28B-09	TCGA-LP-A5U3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83db6019-579d-4875-a935-6878ed5119e2	9fa979c3-9393-464e-a0b4-56b84ddfca32	g.chr12:118520134G>A	ENST00000359236.5	-	3	738	c.462C>T	c.(460-462)aaC>aaT	p.N154N	VSIG10_ENST00000536905.1_5'UTR	NM_019086.5	NP_061959.2	Q8N0Z9	VSI10_HUMAN	V-set and immunoglobulin domain containing 10	154	Ig-like C2-type 2.					integral component of membrane (GO:0016021)				endometrium(5)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|urinary_tract(1)	17						TGGAGCTGCTGTTGCAGCTGA	0.607																																																	0													79.0	85.0	83.0					12																	118520134		1959	4148	6107	SO:0001819	synonymous_variant	54621				CCDS44992.1	12q24.23	2013-01-29			ENSG00000176834	ENSG00000176834		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26078	protein-coding gene	gene with protein product						12477932	Standard	NM_019086		Approved		uc001tws.3	Q8N0Z9		ENST00000359236.5:c.462C>T	12.37:g.118520134G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9NWQ7	Silent	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like	p.N154	ENST00000359236.5	37	c.462	CCDS44992.1	12																																																																																			VSIG10	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.607	VSIG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VSIG10	HGNC	protein_coding	OTTHUMT00000401273.2	G	NM_019086		118520134	-1	no_errors	ENST00000359236	ensembl	human	known	70_37	silent	SNP	0.922	A
VWA9	81556	genome.wustl.edu	37	15	65903420	65903420	+	Intron	SNP	C	C	T			TCGA-LP-A5U3-01A-11D-A28B-09	TCGA-LP-A5U3-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83db6019-579d-4875-a935-6878ed5119e2	9fa979c3-9393-464e-a0b4-56b84ddfca32	g.chr15:65903420C>T	ENST00000313182.2	-	1	148				VWA9_ENST00000420799.2_Intron|VWA9_ENST00000567744.1_5'UTR|SLC24A1_ENST00000537259.1_5'Flank|VWA9_ENST00000442903.3_Intron|VWA9_ENST00000569491.1_Intron|VWA9_ENST00000395644.4_5'Flank|VWA9_ENST00000431261.2_Intron			Q96SY0	VWA9_HUMAN	von Willebrand factor A domain containing 9																		CCCGGGCCCTCGGCCTCCCCA	0.632																																																	0																																										SO:0001627	intron_variant	81556			AL136662	CCDS55969.1, CCDS45283.1	15q22.31	2012-09-27	2012-09-27	2012-09-27	ENSG00000138614	ENSG00000138614			25372	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 44"""	C15orf44		11230166	Standard	NM_001136043		Approved	DKFZP564O1664	uc010uja.2	Q96SY0	OTTHUMG00000133159	ENST00000313182.2:c.61+15G>A	15.37:g.65903420C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DDI6|B4DVD5|Q49AH8|Q96HX5|Q9H0S5	Missense_Mutation	SNP	NULL	p.R17Q	ENST00000313182.2	37	c.50		15																																																																																			VWA9	-	NULL		0.632	VWA9-008	KNOWN	basic|appris_principal	protein_coding	VWA9	HGNC	protein_coding	OTTHUMT00000420604.3	C	NM_030800		65903420	-1	no_errors	ENST00000567940	ensembl	human	known	70_37	missense	SNP	0.000	T
WDTC1	23038	genome.wustl.edu	37	1	27608762	27608762	+	Nonsense_Mutation	SNP	G	G	A			TCGA-LP-A5U3-01A-11D-A28B-09	TCGA-LP-A5U3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83db6019-579d-4875-a935-6878ed5119e2	9fa979c3-9393-464e-a0b4-56b84ddfca32	g.chr1:27608762G>A	ENST00000319394.3	+	4	700	c.165G>A	c.(163-165)tgG>tgA	p.W55*	WDTC1_ENST00000361771.3_Nonsense_Mutation_p.W55*	NM_001276252.1|NM_015023.3	NP_001263181.1|NP_055838.2	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	55					cellular chemical homeostasis (GO:0055082)|cellular response to insulin stimulus (GO:0032869)|glucose metabolic process (GO:0006006)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|regulation of cell size (GO:0008361)	cytosol (GO:0005829)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		GTCTGGAGTGGAATGAGAAAG	0.527																																																	0													111.0	97.0	101.0					1																	27608762		2203	4300	6503	SO:0001587	stop_gained	23038			AK023778	CCDS296.1, CCDS60044.1	1p35.3	2013-01-11			ENSG00000142784	ENSG00000142784		"""DDB1 and CUL4 associated factors"", ""WD repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29175	protein-coding gene	gene with protein product	"""adipose homolog (Drosophila)"", ""DDB1 and CUL4 associated factor 9"""					12717455, 19238144	Standard	NM_015023		Approved	KIAA1037, ADP, DCAF9	uc009vst.3	Q8N5D0	OTTHUMG00000004273	ENST00000319394.3:c.165G>A	1.37:g.27608762G>A	ENSP00000317971:p.Trp55*	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DPL5|Q5SSC5|Q9NV87|Q9UPW4	Nonsense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,smart_TPR_repeat,pfscan_TPR-contain_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.W55*	ENST00000319394.3	37	c.165		1	.	.	.	.	.	.	.	.	.	.	G	39	7.653529	0.98412	.	.	ENSG00000142784	ENST00000319394;ENST00000361771	.	.	.	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	.	17.1641	0.86810	0.0:0.0:1.0:0.0	.	.	.	.	X	55	.	ENSP00000317971:W55X	W	+	3	0	WDTC1	27481349	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.976000	0.93442	2.612000	0.88384	0.655000	0.94253	TGG	WDTC1	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.527	WDTC1-201	KNOWN	basic|appris_candidate_longest	protein_coding	WDTC1	HGNC	protein_coding		G	NM_015023		27608762	+1	no_errors	ENST00000319394	ensembl	human	known	70_37	nonsense	SNP	1.000	A
ZBTB18	10472	genome.wustl.edu	37	1	244217392	244217392	+	Missense_Mutation	SNP	G	G	T			TCGA-LP-A5U3-01A-11D-A28B-09	TCGA-LP-A5U3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83db6019-579d-4875-a935-6878ed5119e2	9fa979c3-9393-464e-a0b4-56b84ddfca32	g.chr1:244217392G>T	ENST00000358704.4	+	2	465	c.316G>T	c.(316-318)Gtg>Ttg	p.V106L		NM_001278196.1|NM_006352.4|NM_205768.2	NP_001265125.1|NP_006343.2|NP_991331.1	Q99592	ZBT18_HUMAN	zinc finger and BTB domain containing 18	97					cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron development (GO:0048666)|regulation of cell division (GO:0051302)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)										CATTGAAGACGTGCTAGCAGC	0.468																																																	0													71.0	71.0	71.0					1																	244217392		2203	4300	6503	SO:0001583	missense	10472			U38896	CCDS1622.1	1q44	2013-09-19	2013-01-09	2013-01-09	ENSG00000179456	ENSG00000179456		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13030	protein-coding gene	gene with protein product		608433	"""zinc finger protein 238"""	ZNF238		9568537, 9013868	Standard	NM_205768		Approved	C2H2-171, TAZ-1, RP58	uc031psv.1	Q99592	OTTHUMG00000040013	ENST00000358704.4:c.316G>T	1.37:g.244217392G>T	ENSP00000351539:p.Val106Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K5U3|Q13397|Q5VU40|Q8N463|Q9UD99	Missense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.V106L	ENST00000358704.4	37	c.316	CCDS1622.1	1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.407110	0.83230	.	.	ENSG00000179456	ENST00000366538;ENST00000358704	T	0.66995	-0.24	5.12	5.12	0.69794	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.74566	0.3733	L	0.31578	0.945	0.80722	D	1	D;D;D	0.69078	0.997;0.997;0.997	D;D;D	0.78314	0.991;0.991;0.978	T	0.78188	-0.2301	10	0.87932	D	0	.	18.563	0.91107	0.0:0.0:1.0:0.0	.	106;97;106	B4DF20;Q99592;Q99592-2	.;ZN238_HUMAN;.	L	106	ENSP00000351539:V106L	ENSP00000351539:V106L	V	+	1	0	ZNF238	242284015	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.397000	0.81536	0.655000	0.94253	GTG	ZNF238	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like		0.468	ZBTB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF238	HGNC	protein_coding	OTTHUMT00000096513.2	G	NM_205768		244217392	+1	no_errors	ENST00000358704	ensembl	human	known	70_37	missense	SNP	1.000	T
ZNF410	57862	genome.wustl.edu	37	14	74363160	74363160	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A5U3-01A-11D-A28B-09	TCGA-LP-A5U3-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83db6019-579d-4875-a935-6878ed5119e2	9fa979c3-9393-464e-a0b4-56b84ddfca32	g.chr14:74363160C>T	ENST00000555044.1	+	4	505	c.311C>T	c.(310-312)tCa>tTa	p.S104L	ZNF410_ENST00000412490.3_3'UTR|RP5-1021I20.5_ENST00000554009.1_RNA|ZNF410_ENST00000334521.4_Missense_Mutation_p.S51L|RP5-1021I20.4_ENST00000556551.2_3'UTR|ZNF410_ENST00000324593.6_Missense_Mutation_p.S104L|ZNF410_ENST00000442160.3_Missense_Mutation_p.S121L|ZNF410_ENST00000540593.1_Intron|ZNF410_ENST00000556797.1_Missense_Mutation_p.S51L	NM_001242928.1|NM_021188.2	NP_001229857.1|NP_067011.1	Q86VK4	ZN410_HUMAN	zinc finger protein 410	104					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(234;0.00369)		TTGTCCACTTCAGAGTCTTCT	0.453																																																	0													143.0	139.0	140.0					14																	74363160		2203	4300	6503	SO:0001583	missense	57862			U90919	CCDS9821.1, CCDS55929.1, CCDS55930.1, CCDS55931.1	14q24.3	2013-01-08				ENSG00000119725		"""Zinc fingers, C2H2-type"""	20144	protein-coding gene	gene with protein product						12370286	Standard	NM_001242924		Approved	APA1, APA-1	uc010arz.2	Q86VK4		ENST00000555044.1:c.311C>T	14.37:g.74363160C>T	ENSP00000451763:p.Ser104Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DDV5|B4DR78|O00153|Q9BQ19	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S104L	ENST00000555044.1	37	c.311	CCDS9821.1	14	.	.	.	.	.	.	.	.	.	.	C	15.33	2.800138	0.50208	.	.	ENSG00000119725	ENST00000555730;ENST00000324593;ENST00000557495;ENST00000556659;ENST00000557363;ENST00000458102;ENST00000442160;ENST00000555044;ENST00000334521;ENST00000556797	T;T;T;T	0.09163	3.04;3.02;3.04;3.01	5.0	4.09	0.47781	.	0.557526	0.14879	N	0.293069	T	0.07234	0.0183	N	0.14661	0.345	0.29894	N	0.824978	B;B;B	0.21905	0.062;0.013;0.02	B;B;B	0.18561	0.022;0.006;0.007	T	0.16541	-1.0399	10	0.22109	T	0.4	.	13.2908	0.60270	0.1586:0.8414:0.0:0.0	.	121;104;104	B4DDV5;Q86VK4-3;Q86VK4	.;.;ZN410_HUMAN	L	51;104;111;104;51;93;121;104;51;51	ENSP00000323293:S104L;ENSP00000407130:S121L;ENSP00000451763:S104L;ENSP00000334170:S51L	ENSP00000323293:S104L	S	+	2	0	ZNF410	73432913	1.000000	0.71417	1.000000	0.80357	0.795000	0.44927	3.557000	0.53741	1.416000	0.47057	0.591000	0.81541	TCA	ZNF410	-	NULL		0.453	ZNF410-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF410	HGNC	protein_coding	OTTHUMT00000412597.1	C	NM_021188		74363160	+1	no_errors	ENST00000555044	ensembl	human	known	70_37	missense	SNP	1.000	T
ZNF410	57862	genome.wustl.edu	37	14	74363169	74363169	+	Missense_Mutation	SNP	C	C	G			TCGA-LP-A5U3-01A-11D-A28B-09	TCGA-LP-A5U3-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83db6019-579d-4875-a935-6878ed5119e2	9fa979c3-9393-464e-a0b4-56b84ddfca32	g.chr14:74363169C>G	ENST00000555044.1	+	4	514	c.320C>G	c.(319-321)tCt>tGt	p.S107C	ZNF410_ENST00000412490.3_3'UTR|RP5-1021I20.5_ENST00000554009.1_RNA|ZNF410_ENST00000334521.4_Missense_Mutation_p.S54C|RP5-1021I20.4_ENST00000556551.2_3'UTR|ZNF410_ENST00000324593.6_Missense_Mutation_p.S107C|ZNF410_ENST00000442160.3_Missense_Mutation_p.S124C|ZNF410_ENST00000540593.1_Intron|ZNF410_ENST00000556797.1_Missense_Mutation_p.S54C	NM_001242928.1|NM_021188.2	NP_001229857.1|NP_067011.1	Q86VK4	ZN410_HUMAN	zinc finger protein 410	107					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(234;0.00369)		TCAGAGTCTTCTAGCTTGTTG	0.443																																																	0													143.0	139.0	141.0					14																	74363169		2203	4300	6503	SO:0001583	missense	57862			U90919	CCDS9821.1, CCDS55929.1, CCDS55930.1, CCDS55931.1	14q24.3	2013-01-08				ENSG00000119725		"""Zinc fingers, C2H2-type"""	20144	protein-coding gene	gene with protein product						12370286	Standard	NM_001242924		Approved	APA1, APA-1	uc010arz.2	Q86VK4		ENST00000555044.1:c.320C>G	14.37:g.74363169C>G	ENSP00000451763:p.Ser107Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DDV5|B4DR78|O00153|Q9BQ19	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S107C	ENST00000555044.1	37	c.320	CCDS9821.1	14	.	.	.	.	.	.	.	.	.	.	C	22.0	4.226049	0.79576	.	.	ENSG00000119725	ENST00000555730;ENST00000324593;ENST00000557495;ENST00000556659;ENST00000557363;ENST00000458102;ENST00000442160;ENST00000555044;ENST00000334521;ENST00000556797	T;T;T;T	0.11604	2.82;2.8;2.81;2.76	5.3	5.3	0.74995	.	0.164767	0.28927	N	0.013691	T	0.11239	0.0274	N	0.19112	0.55	0.43351	D	0.995412	D;P;P	0.58620	0.983;0.924;0.947	P;B;B	0.45712	0.491;0.299;0.322	T	0.03112	-1.1071	10	0.62326	D	0.03	.	17.3045	0.87191	0.0:1.0:0.0:0.0	.	124;107;107	B4DDV5;Q86VK4-3;Q86VK4	.;.;ZN410_HUMAN	C	54;107;114;107;54;96;124;107;54;54	ENSP00000323293:S107C;ENSP00000407130:S124C;ENSP00000451763:S107C;ENSP00000334170:S54C	ENSP00000323293:S107C	S	+	2	0	ZNF410	73432922	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	5.190000	0.65104	2.748000	0.94277	0.591000	0.81541	TCT	ZNF410	-	NULL		0.443	ZNF410-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF410	HGNC	protein_coding	OTTHUMT00000412597.1	C	NM_021188		74363169	+1	no_errors	ENST00000555044	ensembl	human	known	70_37	missense	SNP	1.000	G
ZNF750	79755	genome.wustl.edu	37	17	80789323	80789323	+	Silent	SNP	T	T	A			TCGA-LP-A5U3-01A-11D-A28B-09	TCGA-LP-A5U3-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83db6019-579d-4875-a935-6878ed5119e2	9fa979c3-9393-464e-a0b4-56b84ddfca32	g.chr17:80789323T>A	ENST00000269394.3	-	2	1841	c.1008A>T	c.(1006-1008)ccA>ccT	p.P336P	TBCD_ENST00000355528.4_Intron|TBCD_ENST00000397466.2_Intron|TBCD_ENST00000539345.2_Intron|ZNF750_ENST00000572562.1_5'UTR	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	336					cell differentiation (GO:0030154)|epidermis development (GO:0008544)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			CAGTGACAGGTGGGAGTCTGA	0.522																																																	0													134.0	145.0	141.0					17																	80789323		2203	4300	6503	SO:0001819	synonymous_variant	79755			AK023903	CCDS11819.1	17q25.3	2008-05-02				ENSG00000141579			25843	protein-coding gene	gene with protein product		610226				16751772	Standard	NM_024702		Approved	FLJ13841, Zfp750	uc002kga.3	Q32MQ0		ENST00000269394.3:c.1008A>T	17.37:g.80789323T>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9H899	Silent	SNP	NULL	p.P336	ENST00000269394.3	37	c.1008	CCDS11819.1	17																																																																																			ZNF750	-	NULL		0.522	ZNF750-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF750	HGNC	protein_coding	OTTHUMT00000439074.2	T	NM_024702		80789323	-1	no_errors	ENST00000269394	ensembl	human	known	70_37	silent	SNP	0.000	A
ZNF750	79755	genome.wustl.edu	37	17	80789326	80789326	+	Silent	SNP	G	G	A			TCGA-LP-A5U3-01A-11D-A28B-09	TCGA-LP-A5U3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83db6019-579d-4875-a935-6878ed5119e2	9fa979c3-9393-464e-a0b4-56b84ddfca32	g.chr17:80789326G>A	ENST00000269394.3	-	2	1838	c.1005C>T	c.(1003-1005)ctC>ctT	p.L335L	TBCD_ENST00000355528.4_Intron|TBCD_ENST00000397466.2_Intron|TBCD_ENST00000539345.2_Intron|ZNF750_ENST00000572562.1_5'UTR	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	335					cell differentiation (GO:0030154)|epidermis development (GO:0008544)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			TGACAGGTGGGAGTCTGAGAC	0.522																																																	0													137.0	147.0	143.0					17																	80789326		2203	4300	6503	SO:0001819	synonymous_variant	79755			AK023903	CCDS11819.1	17q25.3	2008-05-02				ENSG00000141579			25843	protein-coding gene	gene with protein product		610226				16751772	Standard	NM_024702		Approved	FLJ13841, Zfp750	uc002kga.3	Q32MQ0		ENST00000269394.3:c.1005C>T	17.37:g.80789326G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9H899	Silent	SNP	NULL	p.L335	ENST00000269394.3	37	c.1005	CCDS11819.1	17																																																																																			ZNF750	-	NULL		0.522	ZNF750-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF750	HGNC	protein_coding	OTTHUMT00000439074.2	G	NM_024702		80789326	-1	no_errors	ENST00000269394	ensembl	human	known	70_37	silent	SNP	0.294	A
ZNF750	79755	genome.wustl.edu	37	17	80789328	80789328	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A5U3-01A-11D-A28B-09	TCGA-LP-A5U3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83db6019-579d-4875-a935-6878ed5119e2	9fa979c3-9393-464e-a0b4-56b84ddfca32	g.chr17:80789328G>A	ENST00000269394.3	-	2	1836	c.1003C>T	c.(1003-1005)Ctc>Ttc	p.L335F	TBCD_ENST00000355528.4_Intron|TBCD_ENST00000397466.2_Intron|TBCD_ENST00000539345.2_Intron|ZNF750_ENST00000572562.1_5'UTR	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	335					cell differentiation (GO:0030154)|epidermis development (GO:0008544)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			ACAGGTGGGAGTCTGAGACCA	0.512																																																	0													138.0	148.0	145.0					17																	80789328		2203	4300	6503	SO:0001583	missense	79755			AK023903	CCDS11819.1	17q25.3	2008-05-02				ENSG00000141579			25843	protein-coding gene	gene with protein product		610226				16751772	Standard	NM_024702		Approved	FLJ13841, Zfp750	uc002kga.3	Q32MQ0		ENST00000269394.3:c.1003C>T	17.37:g.80789328G>A	ENSP00000269394:p.Leu335Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9H899	Missense_Mutation	SNP	NULL	p.L335F	ENST00000269394.3	37	c.1003	CCDS11819.1	17	.	.	.	.	.	.	.	.	.	.	G	9.380	1.072827	0.20147	.	.	ENSG00000141579	ENST00000269394	T	0.14266	2.52	4.77	3.79	0.43588	.	0.119957	0.36665	N	0.002462	T	0.10981	0.0268	L	0.48642	1.525	0.22858	N	0.998647	B	0.17667	0.023	B	0.20955	0.032	T	0.23511	-1.0186	9	.	.	.	-28.9196	4.9651	0.14087	0.1991:0.1769:0.624:0.0	.	335	Q32MQ0	ZN750_HUMAN	F	335	ENSP00000269394:L335F	.	L	-	1	0	ZNF750	78382617	0.970000	0.33590	0.906000	0.35671	0.394000	0.30568	2.504000	0.45416	1.133000	0.42147	0.563000	0.77884	CTC	ZNF750	-	NULL		0.512	ZNF750-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF750	HGNC	protein_coding	OTTHUMT00000439074.2	G	NM_024702		80789328	-1	no_errors	ENST00000269394	ensembl	human	known	70_37	missense	SNP	0.279	A
ZNF843	283933	genome.wustl.edu	37	16	31447140	31447140	+	Missense_Mutation	SNP	T	T	C	rs575423632		TCGA-LP-A5U3-01A-11D-A28B-09	TCGA-LP-A5U3-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83db6019-579d-4875-a935-6878ed5119e2	9fa979c3-9393-464e-a0b4-56b84ddfca32	g.chr16:31447140T>C	ENST00000315678.5	-	2	1755	c.1031A>G	c.(1030-1032)aAc>aGc	p.N344S	ZNF843_ENST00000564218.1_Intron	NM_001136509.1	NP_001129981.1	Q8N446	ZN843_HUMAN	zinc finger protein 843	344							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(2)|large_intestine(1)|prostate(1)	4						TCGGGCCAGGTTGGACCTCCG	0.637													T|||	1	0.000199681	0.0	0.0	5008	,	,		12591	0.001		0.0	False		,,,				2504	0.0																0													9.0	11.0	10.0					16																	31447140		689	1584	2273	SO:0001583	missense	283933			BC036762	CCDS45471.1	16p11.2	2013-01-11			ENSG00000176723	ENSG00000176723		"""Zinc fingers, C2H2-type"""	28710	protein-coding gene	gene with protein product						12477932	Standard	NM_001136509		Approved	MGC46336	uc010vfm.1	Q8N446		ENST00000315678.5:c.1031A>G	16.37:g.31447140T>C	ENSP00000322899:p.Asn344Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K4U8	Missense_Mutation	SNP	pfscan_Znf_C2H2	p.N344S	ENST00000315678.5	37	c.1031	CCDS45471.1	16	.	.	.	.	.	.	.	.	.	.	T	8.713	0.912549	0.17907	.	.	ENSG00000176723	ENST00000315678	T	0.01203	5.18	2.02	0.855	0.19013	.	.	.	.	.	T	0.00754	0.0025	N	0.08118	0	0.09310	N	1	B	0.16396	0.017	B	0.18263	0.021	T	0.49263	-0.8958	9	0.87932	D	0	.	2.5726	0.04798	0.0:0.1807:0.2841:0.5352	.	344	Q8N446	ZN843_HUMAN	S	344	ENSP00000322899:N344S	ENSP00000322899:N344S	N	-	2	0	ZNF843	31354641	0.000000	0.05858	0.029000	0.17559	0.028000	0.11728	0.065000	0.14466	0.066000	0.16515	0.397000	0.26171	AAC	ZNF843	-	NULL		0.637	ZNF843-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF843	HGNC	protein_coding	OTTHUMT00000432843.1	T	NM_001136509		31447140	-1	no_errors	ENST00000315678	ensembl	human	known	70_37	missense	SNP	0.449	C
