#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ABCB6	10058	genome.wustl.edu	37	2	220082498	220082499	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A8-A07E-01A-11W-A050-09	TCGA-A8-A07E-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fa018a20-2c26-4d47-831f-75280b6464df	305efad7-ff5c-4c4a-8f59-2f5fd43710ec	g.chr2:220082498_220082499insT	ENST00000265316.3	-	2	896_897	c.580_581insA	c.(580-582)gtgfs	p.V194fs	ABCB6_ENST00000439002.2_Intron	NM_005689.2	NP_005680.1	Q9NP58	ABCB6_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)	194					brain development (GO:0007420)|cellular iron ion homeostasis (GO:0006879)|heme transport (GO:0015886)|porphyrin-containing compound biosynthetic process (GO:0006779)|skin development (GO:0043588)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial envelope (GO:0005740)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|efflux transmembrane transporter activity (GO:0015562)|heme binding (GO:0020037)|heme transporter activity (GO:0015232)|heme-transporting ATPase activity (GO:0015439)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCCAGAGACCACATACCGCAGC	0.455																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF070598	CCDS2436.1	2q36	2014-08-27	2014-08-27		ENSG00000115657	ENSG00000115657		"""ATP binding cassette transporters / subfamily B"""	47	protein-coding gene	gene with protein product	"""ATP-binding cassette half-transporter"""	605452	"""ATP-binding cassette, sub-family B (MDR/TAP), member 6"""			8894702, 9110174	Standard	NM_005689		Approved	EST45597, umat, MTABC3	uc002vkc.2	Q9NP58	OTTHUMG00000133131	ENST00000265316.3:c.580_581insA	2.37:g.220082498_220082499insT	ENSP00000265316:p.Val194fs	Somatic		WXS	Illumina GAIIx	Phase_IV	O75542|Q49A66|Q59GQ5|Q6ZME6|Q96ME8|Q9HAQ6|Q9HAQ7	Frame_Shift_Ins	INS	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.V194fs	ENST00000265316.3	37	c.581_580	CCDS2436.1	2																																																																																			ABCB6	-	NULL	ENSG00000115657		0.455	ABCB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCB6	HGNC	protein_coding	OTTHUMT00000256820.2	131	0.00	0	-	NM_005689		220082498	220082499	-1	no_errors	ENST00000265316	ensembl	human	known	69_37n	frame_shift_ins	179	67.81	377	INS	0.982:0.957	T
AKAP3	10566	genome.wustl.edu	37	12	4736063	4736063	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A8-A07E-01A-11W-A050-09	TCGA-A8-A07E-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fa018a20-2c26-4d47-831f-75280b6464df	305efad7-ff5c-4c4a-8f59-2f5fd43710ec	g.chr12:4736063delT	ENST00000545990.2	-	5	2529	c.2005delA	c.(2005-2007)atgfs	p.M669fs	AKAP3_ENST00000228850.1_Frame_Shift_Del_p.M669fs|RP11-500M8.7_ENST00000536588.1_Intron	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	669					acrosome reaction (GO:0007340)|cellular component movement (GO:0006928)|protein localization (GO:0008104)|single fertilization (GO:0007338)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	acrosomal vesicle (GO:0001669)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	protein kinase A binding (GO:0051018)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						TGTTCTACCATCTGCCCACTC	0.517																																						dbGAP											0													82.0	66.0	72.0					12																	4736063		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			U85715	CCDS8531.1	12p13.3	2009-03-12				ENSG00000111254		"""A-kinase anchor proteins"""	373	protein-coding gene	gene with protein product	"""Fibrous Sheath Protein of 95 kDa"", ""cancer/testis antigen 82"""	604689				10334916, 10319321	Standard	NM_001278309		Approved	FSP95, SOB1, AKAP110, CT82	uc001qnb.4	O75969		ENST00000545990.2:c.2005delA	12.37:g.4736063delT	ENSP00000440994:p.Met669fs	Somatic		WXS	Illumina GAIIx	Phase_IV	O75945|Q86X01|Q9UM61	Frame_Shift_Del	DEL	pfam_AKAP_110_C,pfam_RII_binding_1,smart_AKAP_110	p.M669fs	ENST00000545990.2	37	c.2005	CCDS8531.1	12																																																																																			AKAP3	-	pfam_AKAP_110_C,smart_AKAP_110	ENSG00000111254		0.517	AKAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP3	HGNC	protein_coding	OTTHUMT00000398911.2	57	0.00	0	T	NM_006422		4736063	4736063	-1	no_errors	ENST00000228850	ensembl	human	known	69_37n	frame_shift_del	130	31.79	62	DEL	0.328	-
ANKRD28	23243	genome.wustl.edu	37	3	15751224	15751225	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-A8-A07E-01A-11W-A050-09	TCGA-A8-A07E-10A-01W-A055-09	GG	GG					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fa018a20-2c26-4d47-831f-75280b6464df	305efad7-ff5c-4c4a-8f59-2f5fd43710ec	g.chr3:15751224_15751225delGG	ENST00000399451.2	-	13	1633_1634	c.1266_1267delCC	c.(1264-1269)aaccttfs	p.L425fs	ANKRD28_ENST00000383777.1_Frame_Shift_Del_p.L458fs|ANKRD28_ENST00000497037.1_5'UTR	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN	ankyrin repeat domain 28	425						nucleus (GO:0005634)				breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						TTCAGCAGAAGGTTTAGGCACT	0.327																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AY367056	CCDS46769.1, CCDS74908.1	3p25.1	2013-01-10			ENSG00000206560	ENSG00000206560		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	29024	protein-coding gene	gene with protein product	"""phosphatase interactor targeting K protein"", ""protein phosphatase 6 ankyrin repeat subunit A"", ""protein phosphatase 1, regulatory subunit 65"""	611122				9205841	Standard	NM_015199		Approved	KIAA0379, PITK, PP6-ARS-A, PPP1R65	uc003caj.1	O15084	OTTHUMG00000155379	ENST00000399451.2:c.1266_1267delCC	3.37:g.15751224_15751225delGG	ENSP00000382379:p.Leu425fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DES5|Q1WWL4|Q29RW6|Q3B857|Q6ULS0|Q6ZT57	Frame_Shift_Del	DEL	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.L456fs	ENST00000399451.2	37	c.1366_1365	CCDS46769.1	3																																																																																			ANKRD28	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000206560		0.327	ANKRD28-003	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	ANKRD28	HGNC	protein_coding	OTTHUMT00000339758.1	120	0.00	0	GG	NM_015199		15751224	15751225	-1	no_errors	ENST00000383777	ensembl	human	known	69_37n	frame_shift_del	151	17.11	32	DEL	1.000:1.000	-
ARHGAP36	158763	genome.wustl.edu	37	X	130219991	130219991	+	Silent	SNP	G	G	T			TCGA-A8-A07E-01A-11W-A050-09	TCGA-A8-A07E-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fa018a20-2c26-4d47-831f-75280b6464df	305efad7-ff5c-4c4a-8f59-2f5fd43710ec	g.chrX:130219991G>T	ENST00000276211.5	+	9	1554	c.1209G>T	c.(1207-1209)ctG>ctT	p.L403L	ARHGAP36_ENST00000370921.1_Silent_p.L267L|ARHGAP36_ENST00000370922.1_Silent_p.L391L	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	403	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						AAACAAAGCTGGGGATTGATC	0.463																																						dbGAP											0													306.0	271.0	283.0					X																	130219991		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS14628.1, CCDS65320.1	Xq26.1	2011-06-29			ENSG00000147256	ENSG00000147256		"""Rho GTPase activating proteins"""	26388	protein-coding gene	gene with protein product							Standard	NM_144967		Approved	FLJ30058	uc004evz.3	Q6ZRI8	OTTHUMG00000022402	ENST00000276211.5:c.1209G>T	X.37:g.130219991G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z234|B7Z439|Q5JRL9|Q5JRM0|Q5JRM1|Q96NU6	Silent	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.L403	ENST00000276211.5	37	c.1209	CCDS14628.1	X																																																																																			ARHGAP36	-	superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	ENSG00000147256		0.463	ARHGAP36-005	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP36	HGNC	protein_coding	OTTHUMT00000355073.1	562	0.00	0	G	NM_144967		130219991	130219991	+1	no_errors	ENST00000276211	ensembl	human	known	69_37n	silent	569	22.24	163	SNP	0.994	T
ARMC9	80210	genome.wustl.edu	37	2	232123800	232123800	+	Silent	SNP	G	G	A			TCGA-A8-A07E-01A-11W-A050-09	TCGA-A8-A07E-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fa018a20-2c26-4d47-831f-75280b6464df	305efad7-ff5c-4c4a-8f59-2f5fd43710ec	g.chr2:232123800G>A	ENST00000349938.4	+	11	1205	c.1011G>A	c.(1009-1011)ttG>ttA	p.L337L	ARMC9_ENST00000483477.1_3'UTR	NM_001271466.1|NM_025139.4	NP_001258395.1|NP_079415	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	337						extracellular vesicular exosome (GO:0070062)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		CCTTCTTGTTGCAGGCTCTGC	0.433																																						dbGAP											0													113.0	106.0	108.0					2																	232123800		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC004514	CCDS2484.1, CCDS74666.1	2q37.1	2013-02-14			ENSG00000135931	ENSG00000135931		"""Armadillo repeat containing"""	20730	protein-coding gene	gene with protein product						11347906	Standard	NM_025139		Approved	FLJ12584, KIAA1868, ARM, KU-MEL-1	uc031rrs.1	Q7Z3E5	OTTHUMG00000133229	ENST00000349938.4:c.1011G>A	2.37:g.232123800G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q53TI3|Q6P162|Q7L594|Q86WG2|Q96JF9|Q9H9R8	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.C40Y	ENST00000349938.4	37	c.119	CCDS2484.1	2	.	.	.	.	.	.	.	.	.	.	G	8.587	0.883629	0.17467	.	.	ENSG00000135931	ENST00000424740	.	.	.	4.7	3.8	0.43715	.	.	.	.	.	T	0.69187	0.3083	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.68236	-0.5462	4	.	.	.	-12.2048	13.8417	0.63444	0.0:0.1549:0.8451:0.0	.	.	.	.	Y	40	.	.	C	+	2	0	ARMC9	231832044	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.480000	0.35464	1.081000	0.41110	0.561000	0.74099	TGC	ARMC9	-	NULL	ENSG00000135931		0.433	ARMC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARMC9	HGNC	protein_coding	OTTHUMT00000256966.3	175	0.00	0	G	NM_025139		232123800	232123800	+1	pseudogene:no_stop_codon	ENST00000424740	ensembl	human	novel	69_37n	missense	242	20.39	62	SNP	1.000	A
ATM	472	genome.wustl.edu	37	11	108192065	108192065	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A07E-01A-11W-A050-09	TCGA-A8-A07E-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fa018a20-2c26-4d47-831f-75280b6464df	305efad7-ff5c-4c4a-8f59-2f5fd43710ec	g.chr11:108192065G>A	ENST00000452508.2	+	46	6679	c.6490G>A	c.(6490-6492)Gag>Aag	p.E2164K	C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Missense_Mutation_p.E2164K			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2164	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.		E -> K (in T-prolymphocytic leukemia). {ECO:0000269|PubMed:9288106}.		brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)	p.E2164K(3)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	GCGCAGCCTTGAGTCTGTGTA	0.413			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												dbGAP	yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"""L, O"""	3	Substitution - Missense(3)	prostate(2)|haematopoietic_and_lymphoid_tissue(1)											159.0	147.0	151.0					11																	108192065		2201	4298	6499	-	-	-	SO:0001583	missense	0	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.6490G>A	11.37:g.108192065G>A	ENSP00000388058:p.Glu2164Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.E2164K	ENST00000452508.2	37	c.6490	CCDS31669.1	11	.	.	.	.	.	.	.	.	.	.	G	36	5.795487	0.96952	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	T;T	0.73047	-0.71;-0.71	5.83	5.83	0.93111	PIK-related kinase (1);PIK-related kinase, FAT (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.85048	0.5608	M	0.76002	2.32	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85496	0.1188	10	0.72032	D	0.01	.	20.1099	0.97909	0.0:0.0:1.0:0.0	.	2164	Q13315	ATM_HUMAN	K	2164	ENSP00000278616:E2164K;ENSP00000388058:E2164K	ENSP00000278616:E2164K	E	+	1	0	ATM	107697275	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	9.055000	0.93873	2.753000	0.94483	0.585000	0.79938	GAG	ATM	-	pfam_PIK-rel_kinase_FAT,superfamily_ARM-type_fold,pfscan_PIK_FAT	ENSG00000149311		0.413	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ATM	HGNC	protein_coding	OTTHUMT00000389938.1	160	0.00	0	G	NM_000051		108192065	108192065	+1	no_errors	ENST00000278616	ensembl	human	known	69_37n	missense	142	36.04	80	SNP	1.000	A
CACNA1I	8911	genome.wustl.edu	37	22	40069992	40069992	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A07E-01A-11W-A050-09	TCGA-A8-A07E-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fa018a20-2c26-4d47-831f-75280b6464df	305efad7-ff5c-4c4a-8f59-2f5fd43710ec	g.chr22:40069992C>T	ENST00000402142.3	+	29	4808	c.4808C>T	c.(4807-4809)aCa>aTa	p.T1603I	CACNA1I_ENST00000404898.1_Missense_Mutation_p.T1568I|CACNA1I_ENST00000336649.4_Missense_Mutation_p.T1609I|CACNA1I_ENST00000401624.1_Missense_Mutation_p.T1603I|CACNA1I_ENST00000400164.3_Missense_Mutation_p.T1568I|CACNA1I_ENST00000407673.1_Missense_Mutation_p.T1568I	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1603					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|signal transduction (GO:0007165)|sleep (GO:0030431)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	AAGATGGCCACAGGAATGCGG	0.642																																						dbGAP											0													55.0	62.0	60.0					22																	40069992		2089	4203	6292	-	-	-	SO:0001583	missense	0			AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1396	protein-coding gene	gene with protein product		608230				10454147, 16382099	Standard	NM_021096		Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.4808C>T	22.37:g.40069992C>T	ENSP00000385019:p.Thr1603Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1	p.T1609I	ENST00000402142.3	37	c.4826	CCDS46710.1	22	.	.	.	.	.	.	.	.	.	.	C	21.7	4.182041	0.78677	.	.	ENSG00000100346	ENST00000402142;ENST00000404898;ENST00000401624;ENST00000407673;ENST00000336649;ENST00000400164	D;D;D;D;D;D	0.98455	-4.94;-4.94;-4.94;-4.94;-4.94;-4.94	4.47	4.47	0.54385	Ion transport (1);	0.053127	0.64402	D	0.000001	D	0.98588	0.9528	M	0.61703	1.905	0.58432	D	0.999998	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.87578	0.997;0.998;0.998;0.998	D	0.99712	1.1007	10	0.54805	T	0.06	.	17.1318	0.86728	0.0:1.0:0.0:0.0	.	1568;1603;1568;1603	Q9P0X4-3;Q9P0X4-2;Q9P0X4-4;Q9P0X4	.;.;.;CAC1I_HUMAN	I	1603;1568;1603;1568;1609;1568	ENSP00000385019:T1603I;ENSP00000384093:T1568I;ENSP00000383887:T1603I;ENSP00000385680:T1568I;ENSP00000337829:T1609I;ENSP00000383028:T1568I	ENSP00000337829:T1609I	T	+	2	0	CACNA1I	38399938	0.999000	0.42202	0.901000	0.35422	0.721000	0.41392	4.729000	0.62008	2.034000	0.60081	0.655000	0.94253	ACA	CACNA1I	-	pfam_Ion_trans_dom,pfam_PKD1_2_channel	ENSG00000100346		0.642	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	CACNA1I	HGNC	protein_coding	OTTHUMT00000321290.1	35	0.00	0	C	NM_001003406		40069992	40069992	+1	no_errors	ENST00000336649	ensembl	human	known	69_37n	missense	32	42.86	24	SNP	1.000	T
CACNB2	783	genome.wustl.edu	37	10	18787302	18787302	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A07E-01A-11W-A050-09	TCGA-A8-A07E-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fa018a20-2c26-4d47-831f-75280b6464df	305efad7-ff5c-4c4a-8f59-2f5fd43710ec	g.chr10:18787302G>A	ENST00000324631.7	+	4	412	c.352G>A	c.(352-354)Gcg>Acg	p.A118T	CACNB2_ENST00000377328.1_Missense_Mutation_p.A118T|CACNB2_ENST00000377331.2_Missense_Mutation_p.A90T|CACNB2_ENST00000377319.3_Missense_Mutation_p.A63T|CACNB2_ENST00000396576.2_Missense_Mutation_p.A63T|CACNB2_ENST00000352115.6_Missense_Mutation_p.A118T|CACNB2_ENST00000282343.8_Missense_Mutation_p.A90T|CACNB2_ENST00000377315.4_Missense_Mutation_p.A70T|CACNB2_ENST00000377329.4_Missense_Mutation_p.A64T	NM_201593.2|NM_201596.2	NP_963887.2|NP_963890.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	118	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				axon guidance (GO:0007411)|calcium ion import (GO:0070509)|neuromuscular junction development (GO:0007528)|positive regulation of calcium ion transport (GO:0051928)|synaptic transmission (GO:0007268)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|voltage-gated calcium channel complex (GO:0005891)	calcium channel activity (GO:0005262)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Amlodipine(DB00381)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CGTTGCATTTGCGGTTCGGAC	0.443																																						dbGAP											0													114.0	99.0	104.0					10																	18787302		2203	4300	6503	-	-	-	SO:0001583	missense	0			U95019	CCDS7125.1, CCDS7126.1, CCDS7127.1, CCDS7128.1, CCDS7129.1, CCDS41493.1, CCDS41494.1	10p12	2014-09-17			ENSG00000165995	ENSG00000165995		"""Calcium channel subunits"""	1402	protein-coding gene	gene with protein product		600003		MYSB, CACNLB2		9254841, 8494331	Standard	NM_201596		Approved		uc001ipr.2	Q08289	OTTHUMG00000017764	ENST00000324631.7:c.352G>A	10.37:g.18787302G>A	ENSP00000320025:p.Ala118Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A6PVM5|A6PVM7|A6PVM8|O00304|Q5QJ99|Q5QJA0|Q5VVG9|Q5VVH0|Q5VWV6|Q6TME1|Q6TME2|Q6TME3|Q8WX81|Q96NZ3|Q96NZ4|Q96NZ5|Q9BWU2|Q9HD32|Q9Y340|Q9Y341	Missense_Mutation	SNP	pfam_Guanylate_kin,pfam_VDCC_L_bsu,superfamily_SH3_domain,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_SH3_domain,prints_VDCC_L_bsu,prints_VDCC_L_b2su	p.A118T	ENST00000324631.7	37	c.352	CCDS7125.1	10	.	.	.	.	.	.	.	.	.	.	G	27.2	4.811035	0.90707	.	.	ENSG00000165995	ENST00000324631;ENST00000352115;ENST00000377328;ENST00000282343;ENST00000377331;ENST00000396576;ENST00000377319;ENST00000377329;ENST00000377315	D;D;D;D;D;D;D;D;D	0.83163	-1.69;-1.69;-1.69;-1.69;-1.69;-1.69;-1.69;-1.69;-1.69	5.73	5.73	0.89815	Src homology-3 domain (3);	0.000000	0.85682	D	0.000000	D	0.91828	0.7414	M	0.80028	2.48	0.80722	D	1	D;D;P;D;D;D;D;D;D;D;D;P;D;D;D;D	0.89917	1.0;0.997;0.955;0.999;0.969;1.0;1.0;1.0;0.982;0.983;0.999;0.942;0.982;0.999;0.985;0.969	D;D;P;D;P;D;D;D;P;P;D;P;P;D;P;P	0.91635	0.999;0.989;0.67;0.987;0.766;0.996;0.998;0.985;0.883;0.831;0.998;0.764;0.883;0.998;0.891;0.766	D	0.91246	0.5025	10	0.49607	T	0.09	-15.2766	19.8949	0.96954	0.0:0.0:1.0:0.0	.	70;70;64;64;90;118;70;64;64;74;63;90;90;118;118;118	B7Z1U5;B7Z2U3;Q5QJ99;Q6TME0;Q5QJA0;A6PVM6;Q5VVH1;Q6TME1;Q08289-3;Q59H42;Q08289-6;A6PVM7;Q08289-4;Q08289-7;Q08289-8;Q08289	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;CACB2_HUMAN	T	118;118;118;90;90;63;63;64;70	ENSP00000320025:A118T;ENSP00000344474:A118T;ENSP00000366545:A118T;ENSP00000282343:A90T;ENSP00000366548:A90T;ENSP00000379821:A63T;ENSP00000366536:A63T;ENSP00000366546:A64T;ENSP00000366532:A70T	ENSP00000282343:A90T	A	+	1	0	CACNB2	18827308	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.869000	0.99810	2.704000	0.92352	0.650000	0.86243	GCG	CACNB2	-	superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	ENSG00000165995		0.443	CACNB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CACNB2	HGNC	protein_coding	OTTHUMT00000047072.2	102	0.00	0	G	NM_000724		18787302	18787302	+1	no_errors	ENST00000324631	ensembl	human	known	69_37n	missense	251	13.15	38	SNP	1.000	A
CCR5	1234	genome.wustl.edu	37	3	46415073	46415075	+	In_Frame_Del	DEL	AGA	AGA	-	rs548727619		TCGA-A8-A07E-01A-11W-A050-09	TCGA-A8-A07E-10A-01W-A055-09	AGA	AGA					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fa018a20-2c26-4d47-831f-75280b6464df	305efad7-ff5c-4c4a-8f59-2f5fd43710ec	g.chr3:46415073_46415075delAGA	ENST00000292303.4	+	2	826_828	c.680_682delAGA	c.(679-684)gagaag>gag	p.K229del	CCR5_ENST00000343801.4_In_Frame_Del_p.K229del|RP11-24F11.2_ENST00000451485.1_RNA|CCR5_ENST00000445772.1_In_Frame_Del_p.K229del	NM_001100168.1	NP_001093638.1	P51681	CCR5_HUMAN	chemokine (C-C motif) receptor 5 (gene/pseudogene)	229					calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|entry into host cell (GO:0030260)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|MAPK cascade (GO:0000165)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to cholesterol (GO:0070723)|signaling (GO:0023052)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|C-C chemokine binding (GO:0019957)|C-C chemokine receptor activity (GO:0016493)|chemokine (C-C motif) ligand 5 binding (GO:0071791)|chemokine receptor activity (GO:0004950)|coreceptor activity (GO:0015026)|phosphatidylinositol phospholipase C activity (GO:0004435)			central_nervous_system(1)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)	Maraviroc(DB04835)	TGTCGAAATGAGAAGAAGAGGCA	0.473																																						dbGAP											0									,	0,4266		0,0,2133					,	5.6	0.9			189	2,8238		0,2,4118	no	coding,coding	CCR5	NM_001100168.1,NM_000579.3	,	0,2,6251	A1A1,A1R,RR		0.0243,0.0,0.016	,	,		2,12504				-	-	-	SO:0001651	inframe_deletion	0				CCDS2739.1	3p21	2012-08-08	2012-01-23		ENSG00000160791	ENSG00000160791		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1606	protein-coding gene	gene with protein product		601373	"""chemokine (C-C motif) receptor 5"""	CMKBR5		8639485	Standard	NM_001100168		Approved	CKR-5, CC-CKR-5, CKR5, CD195, IDDM22	uc003cpo.4	P51681	OTTHUMG00000133481	ENST00000292303.4:c.680_682delAGA	3.37:g.46415079_46415081delAGA	ENSP00000292303:p.Lys229del	Somatic		WXS	Illumina GAIIx	Phase_IV	O14692|O14693|O14695|O14696|O14697|O14698|O14699|O14700|O14701|O14702|O14703|O14704|O14705|O14706|O14707|O14708|O15538|Q9UPA4	In_Frame_Del	DEL	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Chemokine_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Chemokine_CCR5,prints_Chemokine_CCR1,prints_ATII_rcpt	p.K229in_frame_del	ENST00000292303.4	37	c.680_682	CCDS2739.1	3																																																																																			CCR5	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Chemokine_CCR1	ENSG00000160791		0.473	CCR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCR5	HGNC	protein_coding	OTTHUMT00000257377.2	83	0.00	0	AGA	NM_000579		46415073	46415075	+1	no_errors	ENST00000292303	ensembl	human	known	69_37n	in_frame_del	137	22.60	40	DEL	0.263:0.285:0.696	-
CDK12	51755	genome.wustl.edu	37	17	37687471	37687472	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A8-A07E-01A-11W-A050-09	TCGA-A8-A07E-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fa018a20-2c26-4d47-831f-75280b6464df	305efad7-ff5c-4c4a-8f59-2f5fd43710ec	g.chr17:37687471_37687472insG	ENST00000447079.4	+	14	4408_4409	c.4375_4376insG	c.(4375-4377)tggfs	p.W1459fs	CDK12_ENST00000430627.2_Frame_Shift_Ins_p.W1450fs	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	1459					mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						AGGCCTTCACTGGGGGGGCCCA	0.559			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)																												dbGAP		Rec	yes		17	17q12	51755	cyclin-dependent kinase 12		E	0																																										-	-	-	SO:0001589	frameshift_variant	0			AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"""Cyclin-dependent kinases"""	24224	protein-coding gene	gene with protein product	"""CDC2 related protein kinase 7"""	615514	"""Cdc2-related kinase, arginine/serine-rich"""	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.4382dupG	17.37:g.37687478_37687478dupG	ENSP00000398880:p.Trp1459fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2B2|B4DYX4|B9EIQ6|O94978	Frame_Shift_Ins	INS	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.P1463fs	ENST00000447079.4	37	c.4375_4376	CCDS11337.1	17																																																																																			CDK12	-	NULL	ENSG00000167258		0.559	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDK12	HGNC	protein_coding	OTTHUMT00000256941.4	25	0.00	0	-	NM_016507		37687471	37687472	+1	no_errors	ENST00000447079	ensembl	human	known	69_37n	frame_shift_ins	51	10.53	6	INS	1.000:1.000	G
CDKN1B	1027	genome.wustl.edu	37	12	12870853	12870853	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A8-A07E-01A-11W-A050-09	TCGA-A8-A07E-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fa018a20-2c26-4d47-831f-75280b6464df	305efad7-ff5c-4c4a-8f59-2f5fd43710ec	g.chr12:12870853C>A	ENST00000228872.4	+	1	796	c.80C>A	c.(79-81)tCg>tAg	p.S27*	CDKN1B_ENST00000477087.1_Intron|CDKN1B_ENST00000396340.1_Nonsense_Mutation_p.S27*	NM_004064.3	NP_004055.1	P46527	CDN1B_HUMAN	cyclin-dependent kinase inhibitor 1B (p27, Kip1)	27					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|autophagic cell death (GO:0048102)|cell cycle arrest (GO:0007050)|cellular response to antibiotic (GO:0071236)|cellular response to lithium ion (GO:0071285)|cellular response to organic cyclic compound (GO:0071407)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|mitotic cell cycle (GO:0000278)|mitotic cell cycle arrest (GO:0071850)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular component movement (GO:0051271)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of kinase activity (GO:0033673)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell death (GO:0010942)|positive regulation of cell proliferation (GO:0008284)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|potassium ion transport (GO:0006813)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to amino acid (GO:0043200)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|protein phosphatase binding (GO:0019903)|transforming growth factor beta receptor, cytoplasmic mediator activity (GO:0005072)	p.C29fs*12(1)		breast(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(5)	13		Prostate(47;0.0322)|all_epithelial(100;0.159)		BRCA - Breast invasive adenocarcinoma(232;0.0336)		CCCAAGCCCTCGGCCTGCAGG	0.632																																						dbGAP											1	Deletion - Frameshift(1)	breast(1)											44.0	53.0	50.0					12																	12870853		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF480891	CCDS8653.1	12p13.1-p12	2008-08-04			ENSG00000111276	ENSG00000111276			1785	protein-coding gene	gene with protein product		600778				8033212	Standard	NM_004064		Approved	KIP1, P27KIP1	uc001rat.2	P46527	OTTHUMG00000149914	ENST00000228872.4:c.80C>A	12.37:g.12870853C>A	ENSP00000228872:p.Ser27*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q16307|Q5U0H2|Q9BUS6	Nonsense_Mutation	SNP	pfam_CDI	p.S27*	ENST00000228872.4	37	c.80	CCDS8653.1	12	.	.	.	.	.	.	.	.	.	.	C	45	11.776149	0.99601	.	.	ENSG00000111276	ENST00000228872;ENST00000396340;ENST00000442489	.	.	.	5.15	5.15	0.70609	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.9483	16.4225	0.83771	0.0:1.0:0.0:0.0	.	.	.	.	X	27;27;20	.	ENSP00000228872:S27X	S	+	2	0	CDKN1B	12762120	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	5.562000	0.67346	2.405000	0.81733	0.655000	0.94253	TCG	CDKN1B	-	NULL	ENSG00000111276		0.632	CDKN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDKN1B	HGNC	protein_coding	OTTHUMT00000313878.2	25	0.00	0	C	NM_004064		12870853	12870853	+1	no_errors	ENST00000228872	ensembl	human	known	69_37n	nonsense	18	28.00	7	SNP	1.000	A
CEP128	145508	genome.wustl.edu	37	14	81297497	81297497	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A07E-01A-11W-A050-09	TCGA-A8-A07E-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fa018a20-2c26-4d47-831f-75280b6464df	305efad7-ff5c-4c4a-8f59-2f5fd43710ec	g.chr14:81297497G>A	ENST00000555265.1	-	13	1574	c.1199C>T	c.(1198-1200)tCa>tTa	p.S400L	CEP128_ENST00000281129.3_Missense_Mutation_p.S400L|CEP128_ENST00000216517.6_Missense_Mutation_p.S400L			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	400						centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						CTCTACTTGTGATGCCAAATG	0.353																																						dbGAP											0													218.0	197.0	204.0					14																	81297497		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK056756	CCDS32130.1	14q31.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000100629	ENSG00000100629			20359	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 61"", ""chromosome 14 open reading frame 145"""	C14orf61, C14orf145		21399614	Standard	NM_152446		Approved		uc001xux.2	Q6ZU80		ENST00000555265.1:c.1199C>T	14.37:g.81297497G>A	ENSP00000451162:p.Ser400Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EK52|Q86X97|Q96ML4	Missense_Mutation	SNP	NULL	p.S400L	ENST00000555265.1	37	c.1199	CCDS32130.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.250|8.250	0.808869|0.808869	0.16467|0.16467	.|.	.|.	ENSG00000100629|ENSG00000100629	ENST00000554827|ENST00000281129;ENST00000555265;ENST00000393619;ENST00000216517	.|T;T;T	.|0.42513	.|1.57;1.57;0.97	5.63|5.63	1.13|1.13	0.20643|0.20643	.|.	.|0.827576	.|0.10699	.|N	.|0.644299	T|T	0.16257|0.16257	0.0391|0.0391	N|N	0.03608|0.03608	-0.345|-0.345	0.53688|0.53688	D|D	0.999978|0.999978	.|B;B;B	.|0.02656	.|0.0;0.0;0.0	.|B;B;B	.|0.01281	.|0.0;0.0;0.0	T|T	0.15263|0.15263	-1.0443|-1.0443	5|10	.|0.30078	.|T	.|0.28	.|.	1.9124|1.9124	0.03290|0.03290	0.2577:0.1381:0.4636:0.1406|0.2577:0.1381:0.4636:0.1406	.|.	.|400;281;400	.|Q6ZU80-3;Q8N3Z7;Q6ZU80	.|.;.;CE128_HUMAN	Y|L	279|400	.|ENSP00000281129:S400L;ENSP00000451162:S400L;ENSP00000216517:S400L	.|ENSP00000216517:S400L	H|S	-|-	1|2	0|0	CEP128|CEP128	80367250|80367250	0.003000|0.003000	0.15002|0.15002	0.902000|0.902000	0.35471|0.35471	0.661000|0.661000	0.39034|0.39034	0.429000|0.429000	0.21412|0.21412	0.331000|0.331000	0.23511|0.23511	-0.282000|-0.282000	0.10007|0.10007	CAC|TCA	CEP128	-	NULL	ENSG00000100629		0.353	CEP128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP128	HGNC	protein_coding	OTTHUMT00000413415.1	163	0.00	0	G	NM_152446		81297497	81297497	-1	no_errors	ENST00000281129	ensembl	human	known	69_37n	missense	188	46.44	163	SNP	0.844	A
CHM	1121	genome.wustl.edu	37	X	85128090	85128090	+	Missense_Mutation	SNP	A	A	T			TCGA-A8-A07E-01A-11W-A050-09	TCGA-A8-A07E-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fa018a20-2c26-4d47-831f-75280b6464df	305efad7-ff5c-4c4a-8f59-2f5fd43710ec	g.chrX:85128090A>T	ENST00000357749.2	-	14	1766	c.1737T>A	c.(1735-1737)gaT>gaA	p.D579E	CHM_ENST00000467744.2_Intron|CHM_ENST00000537751.1_Missense_Mutation_p.D431E	NM_000390.2	NP_000381.1	P24386	RAE1_HUMAN	choroideremia (Rab escort protein 1)	579					blood vessel development (GO:0001568)|protein geranylgeranylation (GO:0018344)|protein targeting to membrane (GO:0006612)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytosol (GO:0005829)|Rab-protein geranylgeranyltransferase complex (GO:0005968)	GTPase activator activity (GO:0005096)|Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1)	20		all_lung(315;5.41e-06)				CTAAACCACAATCTGGGCCAG	0.393																																						dbGAP											0													108.0	93.0	98.0					X																	85128090		2203	4300	6503	-	-	-	SO:0001583	missense	0			X78121	CCDS14454.1, CCDS48139.1	Xq21.1-q21.3	2014-09-17			ENSG00000188419	ENSG00000188419			1940	protein-coding gene	gene with protein product		300390		TCD, DXS540		1373238	Standard	XM_006724615		Approved	REP-1	uc004eet.3	P24386	OTTHUMG00000021937	ENST00000357749.2:c.1737T>A	X.37:g.85128090A>T	ENSP00000350386:p.Asp579Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L4D2|O43732	Missense_Mutation	SNP	pfam_GDP_dissociation_inhibitor,pirsf_Rab_geranylTrfase_A_euk,prints_Rab_escort,prints_GDP_dissociation_inhibitor	p.D579E	ENST00000357749.2	37	c.1737	CCDS14454.1	X	.	.	.	.	.	.	.	.	.	.	A	17.52	3.410120	0.62399	.	.	ENSG00000188419	ENST00000357749;ENST00000537751	T;T	0.60040	0.22;0.22	5.03	2.18	0.27775	.	0.049781	0.85682	D	0.000000	T	0.74129	0.3676	M	0.84846	2.72	0.39457	D	0.967509	D	0.89917	1.0	D	0.72625	0.978	T	0.74607	-0.3609	10	0.87932	D	0	-10.5363	8.9983	0.36066	0.3155:0.0:0.6845:0.0	.	579	P24386	RAE1_HUMAN	E	579;431	ENSP00000350386:D579E;ENSP00000441728:D431E	ENSP00000350386:D579E	D	-	3	2	CHM	85014746	0.257000	0.24022	0.329000	0.25429	0.993000	0.82548	0.381000	0.20619	0.116000	0.18110	-0.239000	0.12128	GAT	CHM	-	pirsf_Rab_geranylTrfase_A_euk,prints_Rab_escort	ENSG00000188419		0.393	CHM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHM	HGNC	protein_coding	OTTHUMT00000057396.3	122	0.00	0	A	NM_000390		85128090	85128090	-1	no_errors	ENST00000357749	ensembl	human	known	69_37n	missense	89	34.07	46	SNP	0.495	T
CTSE	1510	genome.wustl.edu	37	1	206319212	206319212	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A07E-01A-11W-A050-09	TCGA-A8-A07E-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fa018a20-2c26-4d47-831f-75280b6464df	305efad7-ff5c-4c4a-8f59-2f5fd43710ec	g.chr1:206319212G>A	ENST00000358184.2	+	3	455	c.337G>A	c.(337-339)Gcc>Acc	p.A113T	CTSE_ENST00000361052.3_Missense_Mutation_p.A113T|CTSE_ENST00000432969.2_Missense_Mutation_p.A38T|CTSE_ENST00000360218.2_Missense_Mutation_p.A113T	NM_001910.3	NP_001901.1	P14091	CATE_HUMAN	cathepsin E	113					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|digestion (GO:0007586)|protein autoprocessing (GO:0016540)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(3)	16			BRCA - Breast invasive adenocarcinoma(75;0.0754)			CACTAGCCCAGCCTGCAGTAA	0.602																																						dbGAP											0													70.0	63.0	65.0					1																	206319212		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC042537	CCDS73012.1, CCDS73013.1	1q32.1	2008-02-05			ENSG00000196188	ENSG00000196188	3.4.23.5	"""Cathepsins"""	2530	protein-coding gene	gene with protein product		116890				2369841, 2674141	Standard	NM_001910		Approved		uc001hdu.3	P14091	OTTHUMG00000036121	ENST00000358184.2:c.337G>A	1.37:g.206319212G>A	ENSP00000350911:p.Ala113Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TZ01|Q5TZ02|Q9NY58|Q9UCE3|Q9UCE4	Missense_Mutation	SNP	pfam_Peptidase_A1,pfam_Propep_A1,superfamily_Peptidase_aspartic,prints_Peptidase_A1	p.A113T	ENST00000358184.2	37	c.337	CCDS1462.1	1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.489896	0.84962	.	.	ENSG00000196188	ENST00000358184;ENST00000361052;ENST00000360218;ENST00000432969	T;T;T;T	0.60672	0.17;0.17;0.17;0.17	4.78	4.78	0.61160	.	0.000000	0.64402	D	0.000003	T	0.72358	0.3450	L	0.60904	1.88	0.58432	D	0.999999	D;D;D	0.76494	0.998;0.999;0.999	D;D;D	0.69479	0.964;0.958;0.941	T	0.73591	-0.3934	10	0.54805	T	0.06	.	17.9775	0.89131	0.0:0.0:1.0:0.0	.	38;113;113	B4DNU8;P14091-2;P14091-1	.;.;.	T	113;113;113;38	ENSP00000350911:A113T;ENSP00000354337:A113T;ENSP00000353350:A113T;ENSP00000394607:A38T	ENSP00000350911:A113T	A	+	1	0	CTSE	204485835	1.000000	0.71417	0.991000	0.47740	0.823000	0.46562	6.907000	0.75724	2.655000	0.90218	0.655000	0.94253	GCC	CTSE	-	pfam_Peptidase_A1,superfamily_Peptidase_aspartic	ENSG00000196188		0.602	CTSE-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CTSE	HGNC	protein_coding	OTTHUMT00000087998.1	74	0.00	0	G	NM_001910		206319212	206319212	+1	no_errors	ENST00000361052	ensembl	human	known	69_37n	missense	82	48.77	79	SNP	1.000	A
CYFIP2	26999	genome.wustl.edu	37	5	156747679	156747679	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A07E-01A-11W-A050-09	TCGA-A8-A07E-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fa018a20-2c26-4d47-831f-75280b6464df	305efad7-ff5c-4c4a-8f59-2f5fd43710ec	g.chr5:156747679C>G	ENST00000521420.1	+	14	1553	c.1462C>G	c.(1462-1464)Cga>Gga	p.R488G	CYFIP2_ENST00000347377.6_Missense_Mutation_p.R514G|CYFIP2_ENST00000377576.3_Missense_Mutation_p.R514G|CYFIP2_ENST00000318218.6_Missense_Mutation_p.R514G|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000522463.1_Missense_Mutation_p.R318G|CYFIP2_ENST00000541131.1_Missense_Mutation_p.R439G|CYFIP2_ENST00000435847.2_Missense_Mutation_p.R188G					cytoplasmic FMR1 interacting protein 2											breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ACAGGCAATTCGAAAGACCAT	0.532																																						dbGAP											0													59.0	60.0	60.0					5																	156747679		1962	4140	6102	-	-	-	SO:0001583	missense	0			AF160973	CCDS75364.1	5q34	2008-07-18				ENSG00000055163			13760	protein-coding gene	gene with protein product	"""p53 inducible protein"""	606323				11438699	Standard	NM_001037333		Approved	PIR121	uc021ygm.1	Q96F07		ENST00000521420.1:c.1462C>G	5.37:g.156747679C>G	ENSP00000430904:p.Arg488Gly	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int	p.R514G	ENST00000521420.1	37	c.1540		5	.	.	.	.	.	.	.	.	.	.	C	23.5	4.419634	0.83559	.	.	ENSG00000055163	ENST00000318218;ENST00000522463;ENST00000521420;ENST00000347377;ENST00000377576;ENST00000541131;ENST00000435847	T;T;T;T;T;T;T	0.27557	1.66;1.66;1.66;1.66;1.66;1.66;1.66	5.64	5.64	0.86602	.	0.054754	0.85682	D	0.000000	T	0.60521	0.2275	M	0.85542	2.76	0.80722	D	1	D;D;D;D;D;P	0.89917	1.0;1.0;1.0;1.0;1.0;0.933	D;D;D;D;D;P	0.83275	0.989;0.996;0.994;0.996;0.993;0.871	T	0.65500	-0.6153	10	0.72032	D	0.01	-26.3411	15.3335	0.74231	0.1402:0.8597:0.0:0.0	.	378;318;488;514;514;514	A8MUM2;E7EW33;E7EVJ5;E7EVF4;Q96F07-2;Q96F07	.;.;.;.;.;CYFP2_HUMAN	G	514;318;488;514;514;439;188	ENSP00000325817:R514G;ENSP00000428009:R318G;ENSP00000430904:R488G;ENSP00000313567:R514G;ENSP00000366799:R514G;ENSP00000444645:R439G;ENSP00000403793:R188G	ENSP00000325817:R514G	R	+	1	2	CYFIP2	156680257	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.859000	0.39418	2.664000	0.90586	0.655000	0.94253	CGA	CYFIP2	-	pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub	ENSG00000055163		0.532	CYFIP2-001	NOVEL	basic	protein_coding	CYFIP2	HGNC	protein_coding	OTTHUMT00000373710.1	52	0.00	0	C	NM_001037332		156747679	156747679	+1	no_errors	ENST00000318218	ensembl	human	known	69_37n	missense	52	21.21	14	SNP	1.000	G
DHRS4	10901	genome.wustl.edu	37	14	24423284	24423284	+	Intron	SNP	G	G	A			TCGA-A8-A07E-01A-11W-A050-09	TCGA-A8-A07E-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fa018a20-2c26-4d47-831f-75280b6464df	305efad7-ff5c-4c4a-8f59-2f5fd43710ec	g.chr14:24423284G>A	ENST00000313250.5	+	1	331				DHRS4_ENST00000558263.1_Intron|DHRS4-AS1_ENST00000556379.1_RNA|DHRS4_ENST00000421831.1_Intron|DHRS4_ENST00000308178.8_Intron|DHRS4_ENST00000397075.3_Intron|DHRS4_ENST00000397073.2_Intron|DHRS4_ENST00000558581.1_Intron|DHRS4_ENST00000382761.3_Intron|DHRS4_ENST00000397074.3_Intron|DHRS4_ENST00000543741.2_Intron|DHRS4_ENST00000559632.1_Intron	NM_021004.2	NP_066284.2	Q9BTZ2	DHRS4_HUMAN	dehydrogenase/reductase (SDR family) member 4						alcohol metabolic process (GO:0006066)|cellular ketone metabolic process (GO:0042180)|oxidation-reduction process (GO:0055114)|protein tetramerization (GO:0051262)|steroid metabolic process (GO:0008202)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	3-keto sterol reductase activity (GO:0000253)|alcohol dehydrogenase [NAD(P)+] activity (GO:0018455)|carbonyl reductase (NADPH) activity (GO:0004090)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|receptor binding (GO:0005102)			central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00962)	Vitamin A(DB00162)	AAGCCACTCCGAATCCCCTAG	0.622																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AF044127	CCDS9605.1, CCDS61408.1, CCDS61409.1, CCDS61410.1, CCDS61411.1, CCDS61412.1	14q11.2	2013-06-14			ENSG00000157326	ENSG00000157326	1.1.1.184	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	16985	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 25C, member 2"""	611596				10333503, 19027726	Standard	NM_021004		Approved	SCAD-SRL, SDR-SRL, humNRDR, FLJ11008, SDR25C2	uc001wla.3	Q9BTZ2	OTTHUMG00000028777	ENST00000313250.5:c.128+159G>A	14.37:g.24423284G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RB10|B7WNS9|D3YTB8|E2QRL8|O95162|Q20CR0|Q2LC19|Q2LE81|Q58IU4|Q6E0Y1|Q6UWU3|Q71UQ6|Q8TD03|Q9H3N5|Q9NV08	RNA	SNP	-	NULL	ENST00000313250.5	37	NULL	CCDS9605.1	14																																																																																			DHRS4-AS1	-	-	ENSG00000215256		0.622	DHRS4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DHRS4-AS1	HGNC	protein_coding	OTTHUMT00000071857.3	29	0.00	0	G			24423284	24423284	-1	no_errors	ENST00000556379	ensembl	human	known	69_37n	rna	13	35.00	7	SNP	0.000	A
DNHD1	144132	genome.wustl.edu	37	11	6566572	6566573	+	In_Frame_Ins	INS	-	-	GTG			TCGA-A8-A07E-01A-11W-A050-09	TCGA-A8-A07E-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fa018a20-2c26-4d47-831f-75280b6464df	305efad7-ff5c-4c4a-8f59-2f5fd43710ec	g.chr11:6566572_6566573insGTG	ENST00000527990.2	+	19	4403_4404	c.4403_4404insGTG	c.(4402-4407)gctgct>gcGTGtgct	p.1468_1469AA>ACA	DNHD1_ENST00000254579.6_In_Frame_Ins_p.1468_1469AA>ACA			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	1468					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GGCTGTGTGGCTGCTCGCCTTG	0.579																																						dbGAP											0																																										-	-	-	SO:0001652	inframe_insertion	0			AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 47"", ""dynein heavy chain domain 1-like"", ""coiled-coil domain containing 35"""	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	Exception_encountered	11.37:g.6566572_6566573insGTG	ENSP00000436180:p.Ala1468_Ala1469insCys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	In_Frame_Ins	INS	pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy,superfamily_t-SNARE	p.1469in_frame_insC	ENST00000527990.2	37	c.4403_4404	CCDS44532.1	11																																																																																			DNHD1	-	NULL	ENSG00000179532		0.579	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	DNHD1	HGNC	protein_coding	OTTHUMT00000384673.2	128	0.00	0	-	NM_144666		6566572	6566573	+1	no_errors	ENST00000254579	ensembl	human	known	69_37n	in_frame_ins	88	50.00	88	INS	0.997:0.881	GTG
DYNC1H1	1778	genome.wustl.edu	37	14	102467878	102467878	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A8-A07E-01A-11W-A050-09	TCGA-A8-A07E-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fa018a20-2c26-4d47-831f-75280b6464df	305efad7-ff5c-4c4a-8f59-2f5fd43710ec	g.chr14:102467878G>T	ENST00000360184.4	+	21	4566	c.4402G>T	c.(4402-4404)Gaa>Taa	p.E1468*		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	1468	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TCAGATAAGAGAAGTGTGGAA	0.418																																						dbGAP											0													146.0	136.0	139.0					14																	102467878		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.4402G>T	14.37:g.102467878G>T	ENSP00000348965:p.Glu1468*	Somatic		WXS	Illumina GAIIx	Phase_IV	B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Nonsense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase	p.E1468*	ENST00000360184.4	37	c.4402	CCDS9966.1	14	.	.	.	.	.	.	.	.	.	.	G	43	10.433506	0.99404	.	.	ENSG00000197102	ENST00000360184	.	.	.	5.85	4.96	0.65561	.	0.165190	0.38605	U	0.001635	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	14.9453	0.71026	0.0683:0.0:0.9317:0.0	.	.	.	.	X	1468	.	ENSP00000348965:E1468X	E	+	1	0	DYNC1H1	101537631	1.000000	0.71417	0.989000	0.46669	0.289000	0.27227	9.400000	0.97290	1.488000	0.48433	-0.253000	0.11424	GAA	DYNC1H1	-	pfam_Dynein_heavy_dom-2	ENSG00000197102		0.418	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC1H1	HGNC	protein_coding	OTTHUMT00000414574.1	94	0.00	0	G	NM_001376		102467878	102467878	+1	no_errors	ENST00000360184	ensembl	human	known	69_37n	nonsense	270	12.90	40	SNP	1.000	T
EDC4	23644	genome.wustl.edu	37	16	67911254	67911254	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A07E-01A-11W-A050-09	TCGA-A8-A07E-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fa018a20-2c26-4d47-831f-75280b6464df	305efad7-ff5c-4c4a-8f59-2f5fd43710ec	g.chr16:67911254G>A	ENST00000358933.5	+	5	825	c.586G>A	c.(586-588)Gat>Aat	p.D196N	EDC4_ENST00000574770.1_3'UTR|AC040162.1_ENST00000408599.1_RNA	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	196					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		GGCCTGCCTGGATGAGGCAGG	0.582																																						dbGAP											0													109.0	104.0	106.0					16																	67911254		2198	4300	6498	-	-	-	SO:0001583	missense	0			U17474	CCDS10849.1	16q22.1	2008-02-05			ENSG00000038358	ENSG00000038358			17157	protein-coding gene	gene with protein product		606030				9067524	Standard	NM_014329		Approved	RCD-8, Ge-1, HEDLS	uc002eur.3	Q6P2E9	OTTHUMG00000137543	ENST00000358933.5:c.586G>A	16.37:g.67911254G>A	ENSP00000351811:p.Asp196Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NGM1|A8K4T4|Q13025|Q13826|Q6ZR12|Q7Z6H7	Missense_Mutation	SNP	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D196N	ENST00000358933.5	37	c.586	CCDS10849.1	16	.	.	.	.	.	.	.	.	.	.	G	31	5.059923	0.93846	.	.	ENSG00000038358	ENST00000358933;ENST00000536072	T	0.06687	3.27	5.71	5.71	0.89125	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.31389	0.0795	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	1.0;0.996	D;D	0.91635	0.999;0.977	T	0.00367	-1.1785	10	0.40728	T	0.16	-15.5608	19.4549	0.94884	0.0:0.0:1.0:0.0	.	128;196	B7Z7V8;Q6P2E9	.;EDC4_HUMAN	N	196;128	ENSP00000351811:D196N	ENSP00000351811:D196N	D	+	1	0	EDC4	66468755	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.710000	0.92621	0.655000	0.94253	GAT	EDC4	-	superfamily_WD40_repeat_dom,smart_WD40_repeat	ENSG00000038358		0.582	EDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDC4	HGNC	protein_coding	OTTHUMT00000268874.2	121	0.00	0	G	NM_014329		67911254	67911254	+1	no_errors	ENST00000358933	ensembl	human	known	69_37n	missense	64	36.63	37	SNP	1.000	A
FAM227B	196951	genome.wustl.edu	37	15	49620836	49620836	+	Missense_Mutation	SNP	A	A	T			TCGA-A8-A07E-01A-11W-A050-09	TCGA-A8-A07E-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fa018a20-2c26-4d47-831f-75280b6464df	305efad7-ff5c-4c4a-8f59-2f5fd43710ec	g.chr15:49620836A>T	ENST00000299338.6	-	16	1759	c.1456T>A	c.(1456-1458)Tca>Aca	p.S486T	GALK2_ENST00000327171.3_3'UTR	NM_152647.2	NP_689860.2	Q96M60	F227B_HUMAN	family with sequence similarity 227, member B	486																	gacgatagtgatgCCACACAT	0.343																																						dbGAP											0													147.0	125.0	132.0					15																	49620836		2186	4291	6477	-	-	-	SO:0001583	missense	0				CCDS32237.1	15q21.2	2012-07-04	2012-07-04	2012-07-04	ENSG00000166262	ENSG00000166262			26543	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 33"""	C15orf33			Standard	NM_152647		Approved	FLJ32800	uc001zxl.2	Q96M60	OTTHUMG00000172328	ENST00000299338.6:c.1456T>A	15.37:g.49620836A>T	ENSP00000299338:p.Ser486Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q86WS2	Missense_Mutation	SNP	NULL	p.S486T	ENST00000299338.6	37	c.1456	CCDS32237.1	15	.	.	.	.	.	.	.	.	.	.	A	15.95	2.982681	0.53827	.	.	ENSG00000166262	ENST00000299338	.	.	.	5.35	1.78	0.24846	.	0.801255	0.10618	N	0.653679	T	0.29556	0.0737	L	0.56769	1.78	0.20403	N	0.999905	P	0.45715	0.865	B	0.42555	0.391	T	0.13282	-1.0515	9	0.13853	T	0.58	-8.5142	3.2948	0.06963	0.6508:0.0:0.179:0.1702	.	486	Q96M60	CO033_HUMAN	T	486	.	ENSP00000299338:S486T	S	-	1	0	C15orf33	47408128	0.000000	0.05858	0.640000	0.29408	0.107000	0.19398	-0.752000	0.04797	0.532000	0.28657	0.533000	0.62120	TCA	FAM227B	-	NULL	ENSG00000166262		0.343	FAM227B-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	FAM227B	HGNC	protein_coding	OTTHUMT00000417872.1	191	0.00	0	A	NM_152647		49620836	49620836	-1	no_errors	ENST00000299338	ensembl	human	known	69_37n	missense	166	22.43	48	SNP	0.220	T
FARP2	9855	genome.wustl.edu	37	2	242402858	242402859	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A8-A07E-01A-11W-A050-09	TCGA-A8-A07E-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fa018a20-2c26-4d47-831f-75280b6464df	305efad7-ff5c-4c4a-8f59-2f5fd43710ec	g.chr2:242402858_242402859insT	ENST00000264042.3	+	16	1956_1957	c.1786_1787insT	c.(1786-1788)gagfs	p.E596fs	FARP2_ENST00000373287.4_Frame_Shift_Ins_p.E596fs|FARP2_ENST00000545004.1_Frame_Shift_Ins_p.E596fs	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	596	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton reorganization (GO:0031532)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|neuron remodeling (GO:0016322)|osteoclast differentiation (GO:0030316)|podosome assembly (GO:0071800)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of integrin activation (GO:0033623)|regulation of Rac GTPase activity (GO:0032314)|semaphorin-plexin signaling pathway (GO:0071526)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		CTTCCTGCGCGAGGTGGAGCAG	0.584																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB018336	CCDS33424.1, CCDS63197.1	2q37.3	2013-01-10			ENSG00000006607	ENSG00000006607		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	16460	protein-coding gene	gene with protein product						9872452, 12351724	Standard	NM_001282984		Approved	KIAA0793, FIR, PLEKHC3, FRG	uc002wbi.2	O94887	OTTHUMG00000151574	Exception_encountered	2.37:g.242402858_242402859insT	ENSP00000264042:p.Glu596fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z6J8|F5GZ84|Q53QM5|Q8WU27|Q9UFE7	Frame_Shift_Ins	INS	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM_central,pfam_FERM-adjacent,superfamily_DH-domain,superfamily_FERM_central,smart_Band_41_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_FERM_domain,pfscan_Pleckstrin_homology,pfscan_DH-domain,prints_Band_41_fam,prints_Ez/rad/moesin	p.E596fs	ENST00000264042.3	37	c.1786_1787	CCDS33424.1	2																																																																																			FARP2	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	ENSG00000006607		0.584	FARP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FARP2	HGNC	protein_coding	OTTHUMT00000323153.1	55	0.00	0	-			242402858	242402859	+1	no_errors	ENST00000264042	ensembl	human	known	69_37n	frame_shift_ins	98	65.37	185	INS	0.995:1.000	T
FEZ1	9638	genome.wustl.edu	37	11	125325768	125325768	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A07E-01A-11W-A050-09	TCGA-A8-A07E-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fa018a20-2c26-4d47-831f-75280b6464df	305efad7-ff5c-4c4a-8f59-2f5fd43710ec	g.chr11:125325768C>T	ENST00000278919.3	-	6	1136	c.902G>A	c.(901-903)aGc>aAc	p.S301N	FEZ1_ENST00000527350.1_5'UTR	NM_005103.4	NP_005094.1	Q99689	FEZ1_HUMAN	fasciculation and elongation protein zeta 1 (zygin I)	301					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular response to growth factor stimulus (GO:0071363)|establishment of mitochondrion localization (GO:0051654)|nervous system development (GO:0007399)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|transport (GO:0006810)	axon (GO:0030424)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	24	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0934)		TATCCGGCTGCTCTGCAGGCT	0.527																																					Melanoma(180;509 2033 10762 15939 24711)	dbGAP											0													205.0	186.0	193.0					11																	125325768		2201	4299	6500	-	-	-	SO:0001583	missense	0			U60060	CCDS31716.1, CCDS44758.1	11q24.2	2005-09-29			ENSG00000149557	ENSG00000149557			3659	protein-coding gene	gene with protein product		604825				9096408, 15843383	Standard	NM_005103		Approved		uc001qbx.3	Q99689	OTTHUMG00000165886	ENST00000278919.3:c.902G>A	11.37:g.125325768C>T	ENSP00000278919:p.Ser301Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	O00679|O00728|Q6IBI7	Missense_Mutation	SNP	pfam_FEZ	p.S301N	ENST00000278919.3	37	c.902	CCDS31716.1	11	.	.	.	.	.	.	.	.	.	.	C	7.376	0.627814	0.14257	.	.	ENSG00000149557	ENST00000278919	T	0.30714	1.52	5.14	2.23	0.28157	.	0.144596	0.64402	D	0.000006	T	0.11707	0.0285	N	0.14661	0.345	0.80722	D	1	B;B	0.12630	0.006;0.0	B;B	0.08055	0.003;0.0	T	0.21690	-1.0238	10	0.05833	T	0.94	-25.1543	3.2493	0.06808	0.142:0.5696:0.1374:0.1511	.	272;301	B4DKG5;Q99689	.;FEZ1_HUMAN	N	301	ENSP00000278919:S301N	ENSP00000278919:S301N	S	-	2	0	FEZ1	124830978	0.688000	0.27680	0.940000	0.37924	0.870000	0.49936	1.230000	0.32612	0.194000	0.20326	-0.302000	0.09304	AGC	FEZ1	-	NULL	ENSG00000149557		0.527	FEZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FEZ1	HGNC	protein_coding	OTTHUMT00000386875.1	114	0.00	0	C	NM_005103		125325768	125325768	-1	no_errors	ENST00000278919	ensembl	human	known	69_37n	missense	114	35.59	63	SNP	0.996	T
FSIP1	161835	genome.wustl.edu	37	15	39910370	39910371	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A8-A07E-01A-11W-A050-09	TCGA-A8-A07E-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fa018a20-2c26-4d47-831f-75280b6464df	305efad7-ff5c-4c4a-8f59-2f5fd43710ec	g.chr15:39910370_39910371insT	ENST00000350221.3	-	11	1473_1474	c.1264_1265insA	c.(1264-1266)atcfs	p.I422fs		NM_152597.4	NP_689810.3	Q8NA03	FSIP1_HUMAN	fibrous sheath interacting protein 1	422								p.I422V(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	23		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)		AAGTTTAATGATGGATTTTTGT	0.366																																						dbGAP											1	Substitution - Missense(1)	urinary_tract(1)																																								-	-	-	SO:0001589	frameshift_variant	0			BC045191	CCDS10050.1	15q14	2012-11-19			ENSG00000150667	ENSG00000150667			21674	protein-coding gene	gene with protein product		615795				14702039	Standard	NM_152597		Approved	FLJ35989	uc001zki.3	Q8NA03	OTTHUMG00000172456	ENST00000350221.3:c.1265dupA	15.37:g.39910371_39910371dupT	ENSP00000280236:p.Ile422fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6X2C8|Q86Y89	Frame_Shift_Ins	INS	NULL	p.I422fs	ENST00000350221.3	37	c.1265_1264	CCDS10050.1	15																																																																																			FSIP1	-	NULL	ENSG00000150667		0.366	FSIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FSIP1	HGNC	protein_coding	OTTHUMT00000252118.2	68	0.00	0	-	NM_152597		39910370	39910371	-1	no_errors	ENST00000350221	ensembl	human	known	69_37n	frame_shift_ins	75	29.91	32	INS	0.004:0.021	T
GLE1	2733	genome.wustl.edu	37	9	131296055	131296057	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-A8-A07E-01A-11W-A050-09	TCGA-A8-A07E-10A-01W-A055-09	GAA	GAA					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fa018a20-2c26-4d47-831f-75280b6464df	305efad7-ff5c-4c4a-8f59-2f5fd43710ec	g.chr9:131296055_131296057delGAA	ENST00000309971.4	+	11	1577_1579	c.1471_1473delGAA	c.(1471-1473)gaadel	p.E491del	RP11-216B9.6_ENST00000434999.1_RNA|GLE1_ENST00000539582.1_In_Frame_Del_p.E237del|GLE1_ENST00000372770.4_In_Frame_Del_p.E491del	NM_001003722.1	NP_001003722.1	Q53GS7	GLE1_HUMAN	GLE1 RNA export mediator	491					mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear pore (GO:0005643)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	16						AGGCGAGGAGGAAGTGGCCTCTC	0.502																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			AF058922	CCDS6904.1, CCDS35154.1	9q34.13	2014-09-17	2013-06-18	2007-10-04	ENSG00000119392	ENSG00000119392			4315	protein-coding gene	gene with protein product		603371	"""GLE1 (yeast homolog)-like, RNA export mediator"", ""GLE1 RNA export mediator-like (yeast)"", ""GLE1 RNA export mediator (yeast)"", ""lethal congenital contracture syndrome 1"", ""GLE1 RNA export mediator homolog (yeast)"""	GLE1L, LCCS1		9618489, 18204449	Standard	NM_001499		Approved	hGLE1	uc004bvj.3	Q53GS7	OTTHUMG00000020749	ENST00000309971.4:c.1471_1473delGAA	9.37:g.131296055_131296057delGAA	ENSP00000308622:p.Glu491del	Somatic		WXS	Illumina GAIIx	Phase_IV	O75458|Q53GT9|Q5VVU1|Q8NCP6|Q9UFL6	In_Frame_Del	DEL	pfam_GLE1	p.E491in_frame_del	ENST00000309971.4	37	c.1471_1473	CCDS35154.1	9																																																																																			GLE1	-	pfam_GLE1	ENSG00000119392		0.502	GLE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GLE1	HGNC	protein_coding	OTTHUMT00000054456.1	68	0.00	0	GAA	NM_001003722		131296055	131296057	+1	no_errors	ENST00000309971	ensembl	human	known	69_37n	in_frame_del	93	19.13	22	DEL	1.000:0.995:1.000	-
GLE1	2733	genome.wustl.edu	37	9	131296060	131296063	+	Frame_Shift_Del	DEL	GGCC	GGCC	-			TCGA-A8-A07E-01A-11W-A050-09	TCGA-A8-A07E-10A-01W-A055-09	GGCC	GGCC					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fa018a20-2c26-4d47-831f-75280b6464df	305efad7-ff5c-4c4a-8f59-2f5fd43710ec	g.chr9:131296060_131296063delGGCC	ENST00000309971.4	+	11	1582_1585	c.1476_1479delGGCC	c.(1474-1479)gtggccfs	p.VA492fs	RP11-216B9.6_ENST00000434999.1_RNA|GLE1_ENST00000539582.1_Frame_Shift_Del_p.VA238fs|GLE1_ENST00000372770.4_Frame_Shift_Del_p.VA492fs	NM_001003722.1	NP_001003722.1	Q53GS7	GLE1_HUMAN	GLE1 RNA export mediator	492					mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear pore (GO:0005643)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	16						AGGAGGAAGTGGCCTCTCACCATG	0.495																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF058922	CCDS6904.1, CCDS35154.1	9q34.13	2014-09-17	2013-06-18	2007-10-04	ENSG00000119392	ENSG00000119392			4315	protein-coding gene	gene with protein product		603371	"""GLE1 (yeast homolog)-like, RNA export mediator"", ""GLE1 RNA export mediator-like (yeast)"", ""GLE1 RNA export mediator (yeast)"", ""lethal congenital contracture syndrome 1"", ""GLE1 RNA export mediator homolog (yeast)"""	GLE1L, LCCS1		9618489, 18204449	Standard	NM_001499		Approved	hGLE1	uc004bvj.3	Q53GS7	OTTHUMG00000020749	ENST00000309971.4:c.1476_1479delGGCC	9.37:g.131296060_131296063delGGCC	ENSP00000308622:p.Val492fs	Somatic		WXS	Illumina GAIIx	Phase_IV	O75458|Q53GT9|Q5VVU1|Q8NCP6|Q9UFL6	Frame_Shift_Del	DEL	pfam_GLE1	p.A493fs	ENST00000309971.4	37	c.1476_1479	CCDS35154.1	9																																																																																			GLE1	-	pfam_GLE1	ENSG00000119392		0.495	GLE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GLE1	HGNC	protein_coding	OTTHUMT00000054456.1	68	0.00	0	GGCC	NM_001003722		131296060	131296063	+1	no_errors	ENST00000309971	ensembl	human	known	69_37n	frame_shift_del	88	19.30	22	DEL	1.000:1.000:0.997:1.000	-
GLRA4	441509	genome.wustl.edu	37	X	102962343	102962344	+	Frame_Shift_Del	DEL	TG	TG	-	rs61744012		TCGA-A8-A07E-01A-11W-A050-09	TCGA-A8-A07E-10A-01W-A055-09	TG	TG					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fa018a20-2c26-4d47-831f-75280b6464df	305efad7-ff5c-4c4a-8f59-2f5fd43710ec	g.chrX:102962343_102962344delTG	ENST00000372617.4	-	9	1602_1603	c.1182_1183delCA	c.(1180-1185)ggcattfs	p.I395fs		NM_001024452.2	NP_001019623.2	Q5JXX5	GLRA4_HUMAN	glycine receptor, alpha 4	395						cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)			cervix(1)|endometrium(2)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						GGACTATAAATGCCAGAACCTT	0.525																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			Z93848	CCDS43980.2	Xq22.2	2012-01-16			ENSG00000188828	ENSG00000188828		"""Ligand-gated ion channels / Glycine receptors"""	31715	protein-coding gene	gene with protein product							Standard	NM_001024452		Approved		uc011mse.2	Q5JXX5	OTTHUMG00000022110	ENST00000372617.4:c.1182_1183delCA	X.37:g.102962343_102962344delTG	ENSP00000361700:p.Ile395fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Del	DEL	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_Glycine_rcpt_A,prints_Neur_channel,tigrfam_Neur_channel	p.I395fs	ENST00000372617.4	37	c.1183_1182	CCDS43980.2	X																																																																																			GLRA4	-	NULL	ENSG00000188828		0.525	GLRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLRA4	HGNC	protein_coding	OTTHUMT00000057742.2	185	0.00	0	TG	NM_001024452		102962343	102962344	-1	no_errors	ENST00000372617	ensembl	human	known	69_37n	frame_shift_del	171	30.98	79	DEL	0.935:0.791	-
GP6	51206	genome.wustl.edu	37	19	55543873	55543873	+	Splice_Site	SNP	C	C	T			TCGA-A8-A07E-01A-11W-A050-09	TCGA-A8-A07E-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fa018a20-2c26-4d47-831f-75280b6464df	305efad7-ff5c-4c4a-8f59-2f5fd43710ec	g.chr19:55543873C>T	ENST00000417454.1	-	2	95		c.e2+1		GP6_ENST00000310373.3_Splice_Site|CTC-550B14.6_ENST00000585492.1_RNA|CTC-550B14.7_ENST00000586961.1_RNA|CTC-550B14.7_ENST00000593060.1_RNA|GP6_ENST00000333884.2_Splice_Site|CTC-550B14.7_ENST00000586845.1_RNA	NM_016363.4	NP_057447	Q9HCN6	GPVI_HUMAN	glycoprotein VI (platelet)						blood coagulation (GO:0007596)|enzyme linked receptor protein signaling pathway (GO:0007167)|leukocyte migration (GO:0050900)|platelet activation (GO:0030168)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)	collagen binding (GO:0005518)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19			BRCA - Breast invasive adenocarcinoma(297;0.156)	GBM - Glioblastoma multiforme(193;0.0515)		GAAGGACTCACCACTCTGCGC	0.672																																						dbGAP											0													51.0	59.0	57.0					19																	55543873		2040	4187	6227	-	-	-	SO:0001630	splice_region_variant	0			AB035073	CCDS42626.1, CCDS46184.1, CCDS58678.1	19q13.4	2013-01-29			ENSG00000088053	ENSG00000088053		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14388	protein-coding gene	gene with protein product		605546				11027634	Standard	NM_001083899		Approved	GPVI	uc002qil.3	Q9HCN6	OTTHUMG00000159709	ENST00000417454.1:c.67+1G>A	19.37:g.55543873C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9HCN7|Q9UIF2	Splice_Site	SNP	-	e2+1	ENST00000417454.1	37	c.67+1	CCDS46184.1	19	.	.	.	.	.	.	.	.	.	.	C	7.820	0.717507	0.15372	.	.	ENSG00000088053	ENST00000417454;ENST00000310373;ENST00000333884	.	.	.	3.54	3.54	0.40534	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.8686	0.46870	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GP6	60235685	0.209000	0.23505	0.980000	0.43619	0.064000	0.16182	3.006000	0.49529	2.288000	0.76882	0.561000	0.74099	.	GP6	-	-	ENSG00000088053		0.672	GP6-001	KNOWN	basic|CCDS	protein_coding	GP6	HGNC	protein_coding	OTTHUMT00000357006.1	75	0.00	0	C		Intron	55543873	55543873	-1	no_errors	ENST00000310373	ensembl	human	known	69_37n	splice_site	95	21.49	26	SNP	0.980	T
GPRIN1	114787	genome.wustl.edu	37	5	176026586	176026589	+	Frame_Shift_Del	DEL	AGCA	AGCA	-			TCGA-A8-A07E-01A-11W-A050-09	TCGA-A8-A07E-10A-01W-A055-09	AGCA	AGCA					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fa018a20-2c26-4d47-831f-75280b6464df	305efad7-ff5c-4c4a-8f59-2f5fd43710ec	g.chr5:176026586_176026589delAGCA	ENST00000303991.4	-	2	424_427	c.247_250delTGCT	c.(247-252)tgctctfs	p.CS83fs		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	83					neuron projection development (GO:0031175)	cell projection (GO:0042995)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGGCCGTCAGAGCAGGAGGCCCCT	0.652																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB067480	CCDS4405.1	5q35.2	2008-02-05			ENSG00000169258	ENSG00000169258			24835	protein-coding gene	gene with protein product		611239				11572484	Standard	NM_052899		Approved	GRIN1, KIAA1893	uc003meo.1	Q7Z2K8	OTTHUMG00000130659	ENST00000303991.4:c.247_250delTGCT	5.37:g.176026586_176026589delAGCA	ENSP00000305839:p.Cys83fs	Somatic		WXS	Illumina GAIIx	Phase_IV	C9JM70|Q8ND74|Q96PZ4	Frame_Shift_Del	DEL	NULL	p.C83fs	ENST00000303991.4	37	c.250_247	CCDS4405.1	5																																																																																			GPRIN1	-	NULL	ENSG00000169258		0.652	GPRIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRIN1	HGNC	protein_coding	OTTHUMT00000253149.1	23	0.00	0	AGCA	NM_052899		176026586	176026589	-1	no_errors	ENST00000303991	ensembl	human	known	69_37n	frame_shift_del	16	68.25	43	DEL	0.030:0.015:0.012:0.139	-
IFT122	55764	genome.wustl.edu	37	3	129180117	129180117	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A8-A07E-01A-11W-A050-09	TCGA-A8-A07E-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fa018a20-2c26-4d47-831f-75280b6464df	305efad7-ff5c-4c4a-8f59-2f5fd43710ec	g.chr3:129180117C>T	ENST00000348417.2	+	5	396	c.319C>T	c.(319-321)Caa>Taa	p.Q107*	IFT122_ENST00000349441.2_Intron|IFT122_ENST00000431818.2_5'UTR|IFT122_ENST00000507564.1_Nonsense_Mutation_p.Q158*|IFT122_ENST00000504021.1_Intron|IFT122_ENST00000440957.2_5'UTR|IFT122_ENST00000347300.2_Nonsense_Mutation_p.Q107*|IFT122_ENST00000296266.3_Nonsense_Mutation_p.Q158*	NM_052989.1	NP_443715.1	Q9HBG6	IF122_HUMAN	intraflagellar transport 122	107					camera-type eye morphogenesis (GO:0048593)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic heart tube left/right pattern formation (GO:0060971)|establishment of protein localization to organelle (GO:0072594)|intraciliary anterograde transport (GO:0035720)|intraciliary retrograde transport (GO:0035721)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|neural tube closure (GO:0001843)|protein localization to cilium (GO:0061512)|signal transduction downstream of smoothened (GO:0007227)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|intraciliary transport particle A (GO:0030991)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						TATTACTCATCAACTGGCATC	0.398																																						dbGAP											0													257.0	199.0	218.0					3																	129180117		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF244930	CCDS3059.1, CCDS3060.1, CCDS3061.1, CCDS3062.1, CCDS63770.1, CCDS63772.1, CCDS63773.1	3q21	2014-07-03	2014-07-03	2005-11-02	ENSG00000163913	ENSG00000163913		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	13556	protein-coding gene	gene with protein product		606045	"""WD repeat domain 10"", ""intraflagellar transport 122 homolog (Chlamydomonas)"""	WDR10		11242542	Standard	NM_052985		Approved	WDR140, WDR10p, SPG	uc003emm.3	Q9HBG6	OTTHUMG00000159516	ENST00000348417.2:c.319C>T	3.37:g.129180117C>T	ENSP00000324005:p.Gln107*	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KW53|B4DEY9|B4DPW7|E7EQF4|E9PDG2|E9PDX2|G3XAB1|H7C3C0|Q53G36|Q8TC06|Q9BTB9|Q9BTY4|Q9HAT9|Q9HBG5|Q9NV68|Q9UF80	Nonsense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Q158*	ENST00000348417.2	37	c.472	CCDS3061.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.535132|5.535132	0.96460|0.96460	.|.	.|.	ENSG00000163913|ENSG00000163913	ENST00000347300;ENST00000296266;ENST00000507564;ENST00000454840;ENST00000348417;ENST00000514275|ENST00000508826;ENST00000512157	.|.	.|.	.|.	5.6|5.6	5.6|5.6	0.85130|0.85130	.|.	0.000000|.	0.64402|.	D|.	0.000001|.	.|T	.|0.76278	.|0.3965	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74352	.|-0.3693	.|4	0.17832|.	T|.	0.49|.	-14.0174|-14.0174	19.6224|19.6224	0.95663|0.95663	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|L	107;158;158;107;107;67|58;93	.|.	ENSP00000296266:Q158X|.	Q|S	+|+	1|2	0|0	IFT122|IFT122	130662807|130662807	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.848000|0.848000	0.48234|0.48234	7.481000|7.481000	0.81124|0.81124	2.630000|2.630000	0.89119|0.89119	0.655000|0.655000	0.94253|0.94253	CAA|TCA	IFT122	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat	ENSG00000163913		0.398	IFT122-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IFT122	HGNC	protein_coding	OTTHUMT00000355852.1	135	0.00	0	C	NM_018262		129180117	129180117	+1	no_errors	ENST00000296266	ensembl	human	known	69_37n	nonsense	192	14.60	33	SNP	1.000	T
KIF2B	84643	genome.wustl.edu	37	17	51901164	51901164	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A07E-01A-11W-A050-09	TCGA-A8-A07E-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fa018a20-2c26-4d47-831f-75280b6464df	305efad7-ff5c-4c4a-8f59-2f5fd43710ec	g.chr17:51901164G>A	ENST00000268919.4	+	1	926	c.770G>A	c.(769-771)cGc>cAc	p.R257H		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	257	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GACCTCACTCGCTACCTGCAG	0.542																																						dbGAP											0													138.0	113.0	121.0					17																	51901164		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"""Kinesins"""	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.770G>A	17.37:g.51901164G>A	ENSP00000268919:p.Arg257His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96MA2|Q9BXG6	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.R257H	ENST00000268919.4	37	c.770	CCDS32685.1	17	.	.	.	.	.	.	.	.	.	.	G	18.53	3.643506	0.67244	.	.	ENSG00000141200	ENST00000268919	T	0.75260	-0.92	5.63	4.67	0.58626	Kinesin, motor domain (4);	0.138146	0.34411	N	0.003991	T	0.77738	0.4175	L	0.59967	1.855	0.32923	D	0.516093	D	0.57257	0.979	P	0.52598	0.703	D	0.84862	0.0820	10	0.87932	D	0	.	12.2477	0.54581	0.1427:0.0:0.8573:0.0	.	257	Q8N4N8	KIF2B_HUMAN	H	257	ENSP00000268919:R257H	ENSP00000268919:R257H	R	+	2	0	KIF2B	49256163	0.876000	0.30132	0.997000	0.53966	0.763000	0.43281	2.839000	0.48207	1.510000	0.48803	-0.137000	0.14449	CGC	KIF2B	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	ENSG00000141200		0.542	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF2B	HGNC	protein_coding	OTTHUMT00000438854.1	96	0.00	0	G	NM_032559		51901164	51901164	+1	no_errors	ENST00000268919	ensembl	human	known	69_37n	missense	71	36.04	40	SNP	1.000	A
KLHL20	27252	genome.wustl.edu	37	1	173703348	173703349	+	Frame_Shift_Del	DEL	CG	CG	-			TCGA-A8-A07E-01A-11W-A050-09	TCGA-A8-A07E-10A-01W-A055-09	CG	CG					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fa018a20-2c26-4d47-831f-75280b6464df	305efad7-ff5c-4c4a-8f59-2f5fd43710ec	g.chr1:173703348_173703349delCG	ENST00000209884.4	+	3	656_657	c.520_521delCG	c.(520-522)cggfs	p.R174fs	KLHL20_ENST00000546011.1_Intron|KLHL20_ENST00000493170.1_3'UTR	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN	kelch-like family member 20	174	BACK.				cytoskeleton organization (GO:0007010)|Golgi to endosome transport (GO:0006895)|negative regulation of apoptotic process (GO:0043066)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K33-linked ubiquitination (GO:1990390)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|response to interferon-alpha (GO:0035455)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|PML body (GO:0016605)|trans-Golgi network (GO:0005802)	interferon-gamma binding (GO:0019964)|ubiquitin-protein transferase activity (GO:0004842)			breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						CCTGGGCATTCGGGCTTTTGCT	0.465																																					GBM(159;862 2695 6559 23041)	dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB026190	CCDS1310.1	1q25.1	2013-01-30	2013-01-30		ENSG00000076321	ENSG00000076321		"""Kelch-like"", ""BTB/POZ domain containing"""	25056	protein-coding gene	gene with protein product			"""kelch-like 20 (Drosophila)"""			14668487, 20389280	Standard	NM_014458		Approved	KLEIP, KHLHX	uc001gjc.3	Q9Y2M5	OTTHUMG00000040548	ENST00000209884.4:c.520_521delCG	1.37:g.173703348_173703349delCG	ENSP00000209884:p.Arg174fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KMA0|B4DUR0|Q5TZF2|Q5ZF45|Q9H457	Frame_Shift_Del	DEL	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.R174fs	ENST00000209884.4	37	c.520_521	CCDS1310.1	1																																																																																			KLHL20	-	pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin	ENSG00000076321		0.465	KLHL20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL20	HGNC	protein_coding	OTTHUMT00000097582.1	98	0.00	0	CG	NM_014458		173703348	173703349	+1	no_errors	ENST00000209884	ensembl	human	known	69_37n	frame_shift_del	173	30.80	77	DEL	1.000:1.000	-
LAMB3	3914	genome.wustl.edu	37	1	209790889	209790889	+	Missense_Mutation	SNP	T	T	A			TCGA-A8-A07E-01A-11W-A050-09	TCGA-A8-A07E-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fa018a20-2c26-4d47-831f-75280b6464df	305efad7-ff5c-4c4a-8f59-2f5fd43710ec	g.chr1:209790889T>A	ENST00000356082.4	-	21	3228	c.3094A>T	c.(3094-3096)Atg>Ttg	p.M1032L	LAMB3_ENST00000367030.3_Missense_Mutation_p.M1032L|LAMB3_ENST00000391911.1_Missense_Mutation_p.M1032L	NM_000228.2	NP_000219.2	Q13751	LAMB3_HUMAN	laminin, beta 3	1032	Domain I.				brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	extracellular region (GO:0005576)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		TGCTTGGTCATGCTTGTCACC	0.612																																						dbGAP											0													97.0	95.0	96.0					1																	209790889		2203	4300	6503	-	-	-	SO:0001583	missense	0			D37766	CCDS1487.1	1q32	2013-03-01	2002-08-29		ENSG00000196878	ENSG00000196878		"""Laminins"""	6490	protein-coding gene	gene with protein product		150310	"""laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600 (125kD))"""	LAMNB1		8088808, 7774918	Standard	NM_001127641		Approved	nicein-125kDa, kalinin-140kDa, BM600-125kDa	uc001hhh.3	Q13751	OTTHUMG00000036360	ENST00000356082.4:c.3094A>T	1.37:g.209790889T>A	ENSP00000348384:p.Met1032Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DT88|O14947|Q14733|Q9UJK4|Q9UJL1	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,pfscan_EGF_laminin,pfscan_Laminin_N	p.M1032L	ENST00000356082.4	37	c.3094	CCDS1487.1	1	.	.	.	.	.	.	.	.	.	.	T	11.87	1.767030	0.31320	.	.	ENSG00000196878	ENST00000391911;ENST00000356082;ENST00000367030;ENST00000455193	T;T;T;T	0.20200	2.09;2.09;2.09;3.18	5.53	1.84	0.25277	.	0.171432	0.64402	D	0.000015	T	0.12092	0.0294	L	0.29908	0.895	0.28378	N	0.919654	B	0.26744	0.158	B	0.26864	0.074	T	0.20672	-1.0268	10	0.22706	T	0.39	.	5.5308	0.16983	0.0:0.0882:0.3418:0.57	.	1032	Q13751	LAMB3_HUMAN	L	1032;1032;1032;101	ENSP00000375778:M1032L;ENSP00000348384:M1032L;ENSP00000355997:M1032L;ENSP00000398683:M101L	ENSP00000348384:M1032L	M	-	1	0	LAMB3	207857512	0.345000	0.24835	0.922000	0.36590	0.750000	0.42670	0.702000	0.25631	0.346000	0.23899	0.374000	0.22700	ATG	LAMB3	-	NULL	ENSG00000196878		0.612	LAMB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMB3	HGNC	protein_coding	OTTHUMT00000088525.2	96	0.00	0	T	NM_000228		209790889	209790889	-1	no_errors	ENST00000356082	ensembl	human	known	69_37n	missense	169	17.48	36	SNP	0.912	A
LLGL1	3996	genome.wustl.edu	37	17	18140040	18140042	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-A8-A07E-01A-11W-A050-09	TCGA-A8-A07E-10A-01W-A055-09	AGG	AGG					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fa018a20-2c26-4d47-831f-75280b6464df	305efad7-ff5c-4c4a-8f59-2f5fd43710ec	g.chr17:18140040_18140042delAGG	ENST00000316843.4	+	12	1568_1570	c.1472_1474delAGG	c.(1471-1476)caggct>cct	p.491_492QA>P		NM_004140.3	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	491					axonogenesis (GO:0007409)|cortical actin cytoskeleton organization (GO:0030866)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|maintenance of apical/basal cell polarity (GO:0035090)|positive regulation of Rab GTPase activity (GO:0032851)|protein complex assembly (GO:0006461)	cell projection (GO:0042995)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome membrane (GO:0031901)|Golgi cis cisterna (GO:0000137)|myelin sheath abaxonal region (GO:0035748)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)|structural molecule activity (GO:0005198)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					AGCCTGGCCCAGGCTGCCGAGGA	0.655																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0				CCDS32586.1	17p11.2	2013-01-10	2001-11-28		ENSG00000131899	ENSG00000131899		"""WD repeat domain containing"""	6628	protein-coding gene	gene with protein product		600966	"""lethal giant larvae (Drosophila) homolog 1"""	DLG4, LLGL, HUGL, HUGL-1		7542763, 8565641	Standard	XM_005256643		Approved		uc002gsp.3	Q15334	OTTHUMG00000059396	ENST00000316843.4:c.1472_1474delAGG	17.37:g.18140040_18140042delAGG	ENSP00000321537:p.Gln491_Ala492delinsPro	Somatic		WXS	Illumina GAIIx	Phase_IV	A7MBM7|O00188|Q58F11|Q86UK6	In_Frame_Del	DEL	pfam_LLGL2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_Lethal2_giant,pfscan_WD40_repeat	p.QA491in_frame_delP	ENST00000316843.4	37	c.1472_1474	CCDS32586.1	17																																																																																			LLGL1	-	superfamily_WD40_repeat_dom	ENSG00000131899		0.655	LLGL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LLGL1	HGNC	protein_coding	OTTHUMT00000132067.3	17	0.00	0	AGG			18140040	18140042	+1	no_errors	ENST00000316843	ensembl	human	known	69_37n	in_frame_del	4	50.00	4	DEL	1.000:1.000:1.000	-
LLGL1	3996	genome.wustl.edu	37	17	18140048	18140050	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-A8-A07E-01A-11W-A050-09	TCGA-A8-A07E-10A-01W-A055-09	GAG	GAG					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fa018a20-2c26-4d47-831f-75280b6464df	305efad7-ff5c-4c4a-8f59-2f5fd43710ec	g.chr17:18140048_18140050delGAG	ENST00000316843.4	+	12	1576_1578	c.1480_1482delGAG	c.(1480-1482)gagdel	p.E494del		NM_004140.3	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	494					axonogenesis (GO:0007409)|cortical actin cytoskeleton organization (GO:0030866)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|maintenance of apical/basal cell polarity (GO:0035090)|positive regulation of Rab GTPase activity (GO:0032851)|protein complex assembly (GO:0006461)	cell projection (GO:0042995)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome membrane (GO:0031901)|Golgi cis cisterna (GO:0000137)|myelin sheath abaxonal region (GO:0035748)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)|structural molecule activity (GO:0005198)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					CCAGGCTGCCGAGGACGACTGGC	0.655																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0				CCDS32586.1	17p11.2	2013-01-10	2001-11-28		ENSG00000131899	ENSG00000131899		"""WD repeat domain containing"""	6628	protein-coding gene	gene with protein product		600966	"""lethal giant larvae (Drosophila) homolog 1"""	DLG4, LLGL, HUGL, HUGL-1		7542763, 8565641	Standard	XM_005256643		Approved		uc002gsp.3	Q15334	OTTHUMG00000059396	ENST00000316843.4:c.1480_1482delGAG	17.37:g.18140048_18140050delGAG	ENSP00000321537:p.Glu494del	Somatic		WXS	Illumina GAIIx	Phase_IV	A7MBM7|O00188|Q58F11|Q86UK6	In_Frame_Del	DEL	pfam_LLGL2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_Lethal2_giant,pfscan_WD40_repeat	p.E494in_frame_del	ENST00000316843.4	37	c.1480_1482	CCDS32586.1	17																																																																																			LLGL1	-	superfamily_WD40_repeat_dom	ENSG00000131899		0.655	LLGL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LLGL1	HGNC	protein_coding	OTTHUMT00000132067.3	17	0.00	0	GAG			18140048	18140050	+1	no_errors	ENST00000316843	ensembl	human	known	69_37n	in_frame_del	5	44.44	4	DEL	1.000:1.000:1.000	-
LRP5L	91355	genome.wustl.edu	37	22	25750714	25750714	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A07E-01A-11W-A050-09	TCGA-A8-A07E-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fa018a20-2c26-4d47-831f-75280b6464df	305efad7-ff5c-4c4a-8f59-2f5fd43710ec	g.chr22:25750714C>A	ENST00000402785.2	-	3	600	c.504G>T	c.(502-504)agG>agT	p.R168S	LRP5L_ENST00000444995.3_Missense_Mutation_p.R168S|LRP5L_ENST00000402859.2_Missense_Mutation_p.R168S			A4QPB2	LRP5L_HUMAN	low density lipoprotein receptor-related protein 5-like	168					canonical Wnt signaling pathway (GO:0060070)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)		Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(2)	6						GCAGGGTGAACCTGAAAATGT	0.567																																						dbGAP											0													172.0	148.0	156.0					22																	25750714		2200	4300	6500	-	-	-	SO:0001583	missense	0			AL137651	CCDS33626.1	22q11.23	2013-05-30			ENSG00000100068	ENSG00000100068			25323	protein-coding gene	gene with protein product							Standard	NM_182492		Approved	DKFZp434O0213	uc011ajz.2	A4QPB2	OTTHUMG00000150900	ENST00000402785.2:c.504G>T	22.37:g.25750714C>A	ENSP00000384562:p.Arg168Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B0QYF3|B0QYF4|B2RPI5	Missense_Mutation	SNP	pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt	p.R168S	ENST00000402785.2	37	c.504	CCDS33626.1	22	.	.	.	.	.	.	.	.	.	.	c	7.527	0.657946	0.14645	.	.	ENSG00000100068	ENST00000402859;ENST00000444995;ENST00000402785	D;D;D	0.89875	-2.58;-2.58;-2.58	2.44	0.274	0.15654	Six-bladed beta-propeller, TolB-like (1);	.	.	.	.	T	0.65995	0.2745	N	0.00771	-1.2	0.23186	N	0.998152	B;B	0.09022	0.002;0.001	B;B	0.15052	0.012;0.005	T	0.59899	-0.7367	9	0.72032	D	0.01	.	2.9253	0.05783	0.0:0.4554:0.2421:0.3025	.	168;168	A4QPB2-2;A4QPB2	.;LRP5L_HUMAN	S	168	ENSP00000384291:R168S;ENSP00000407283:R168S;ENSP00000384562:R168S	ENSP00000384562:R168S	R	-	3	2	LRP5L	24080714	1.000000	0.71417	0.998000	0.56505	0.039000	0.13416	0.587000	0.23909	0.127000	0.18452	0.194000	0.17425	AGG	LRP5L	-	smart_LDLR_classB_rpt	ENSG00000100068		0.567	LRP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP5L	HGNC	protein_coding	OTTHUMT00000320477.2	140	0.00	0	C	NM_182492		25750714	25750714	-1	no_errors	ENST00000402785	ensembl	human	known	69_37n	missense	293	13.06	44	SNP	1.000	A
LRRC16B	90668	genome.wustl.edu	37	14	24524512	24524512	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A07E-01A-11W-A050-09	TCGA-A8-A07E-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fa018a20-2c26-4d47-831f-75280b6464df	305efad7-ff5c-4c4a-8f59-2f5fd43710ec	g.chr14:24524512G>A	ENST00000342740.5	+	8	752	c.598G>A	c.(598-600)Gag>Aag	p.E200K	LRRC16B_ENST00000334420.7_5'UTR	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	200						cytoplasm (GO:0005737)				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		CAGCCACTTGGAGAGCCGGTA	0.562																																						dbGAP											0													112.0	114.0	113.0					14																	24524512		2203	4300	6503	-	-	-	SO:0001583	missense	0			AI017934	CCDS32054.1	14q11.2-q12	2010-09-10	2008-02-12	2008-02-12					20272	protein-coding gene	gene with protein product		614716	"""chromosome 14 open reading frame 121"""	C14orf121		19846667	Standard	NM_138360		Approved	BC008134, crml-1, CARMIL3	uc001wlj.2	Q8ND23		ENST00000342740.5:c.598G>A	14.37:g.24524512G>A	ENSP00000340467:p.Glu200Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TEF7|Q96HS9	Missense_Mutation	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.E200K	ENST00000342740.5	37	c.598	CCDS32054.1	14	.	.	.	.	.	.	.	.	.	.	G	17.08	3.297879	0.60086	.	.	ENSG00000186648	ENST00000342740	T	0.53423	0.62	4.43	4.43	0.53597	.	0.467818	0.22037	N	0.065501	T	0.39655	0.1086	M	0.69823	2.125	0.80722	D	1	P	0.37781	0.608	B	0.29942	0.109	T	0.31888	-0.9927	10	0.08837	T	0.75	-11.4743	12.4153	0.55490	0.0:0.0:1.0:0.0	.	200	Q8ND23	LR16B_HUMAN	K	200	ENSP00000340467:E200K	ENSP00000340467:E200K	E	+	1	0	LRRC16B	23594352	1.000000	0.71417	0.998000	0.56505	0.939000	0.58152	8.988000	0.93501	2.294000	0.77228	0.313000	0.20887	GAG	LRRC16B	-	NULL	ENSG00000186648		0.562	LRRC16B-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	LRRC16B	HGNC	protein_coding	OTTHUMT00000416527.1	118	0.00	0	G	NM_138360		24524512	24524512	+1	no_errors	ENST00000342740	ensembl	human	known	69_37n	missense	148	19.57	36	SNP	1.000	A
MAP1A	4130	genome.wustl.edu	37	15	43813948	43813948	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A07E-01A-11W-A050-09	TCGA-A8-A07E-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fa018a20-2c26-4d47-831f-75280b6464df	305efad7-ff5c-4c4a-8f59-2f5fd43710ec	g.chr15:43813948G>A	ENST00000300231.5	+	4	727	c.277G>A	c.(277-279)Gac>Aac	p.D93N	MAP1A_ENST00000382031.1_Missense_Mutation_p.D331N|MAP1A_ENST00000399453.1_Missense_Mutation_p.D93N			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	93					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	CATTGGGGCAGACAACCTGCC	0.557																																						dbGAP											0													142.0	138.0	139.0					15																	43813948		2152	4265	6417	-	-	-	SO:0001583	missense	0			U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.277G>A	15.37:g.43813948G>A	ENSP00000300231:p.Asp93Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	NULL	p.D93N	ENST00000300231.5	37	c.277	CCDS42031.1	15	.	.	.	.	.	.	.	.	.	.	G	16.90	3.251134	0.59212	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231;ENST00000442025	D;D;D	0.92446	-3.04;-3.04;-3.04	4.9	4.9	0.64082	.	.	.	.	.	D	0.96815	0.8960	M	0.91717	3.235	0.80722	D	1	D	0.62365	0.991	D	0.69479	0.964	D	0.97551	1.0092	9	0.72032	D	0.01	-17.0074	18.2645	0.90048	0.0:0.0:1.0:0.0	.	93	P78559	MAP1A_HUMAN	N	331;93;93;93	ENSP00000371462:D331N;ENSP00000382380:D93N;ENSP00000300231:D93N	ENSP00000300231:D93N	D	+	1	0	MAP1A	41601240	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	9.657000	0.98554	2.553000	0.86117	0.561000	0.74099	GAC	MAP1A	-	NULL	ENSG00000166963		0.557	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP1A	HGNC	protein_coding	OTTHUMT00000132894.5	73	0.00	0	G	NM_002373		43813948	43813948	+1	no_errors	ENST00000399453	ensembl	human	known	69_37n	missense	137	31.50	63	SNP	1.000	A
MAP1A	4130	genome.wustl.edu	37	15	43814110	43814110	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A07E-01A-11W-A050-09	TCGA-A8-A07E-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fa018a20-2c26-4d47-831f-75280b6464df	305efad7-ff5c-4c4a-8f59-2f5fd43710ec	g.chr15:43814110G>C	ENST00000300231.5	+	4	889	c.439G>C	c.(439-441)Gat>Cat	p.D147H	MAP1A_ENST00000382031.1_Missense_Mutation_p.D385H|MAP1A_ENST00000399453.1_Missense_Mutation_p.D147H			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	147					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GCGGCTTCCTGATGCCTCCCG	0.557																																						dbGAP											0													88.0	91.0	90.0					15																	43814110		1977	4183	6160	-	-	-	SO:0001583	missense	0			U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.439G>C	15.37:g.43814110G>C	ENSP00000300231:p.Asp147His	Somatic		WXS	Illumina GAIIx	Phase_IV	O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	NULL	p.D147H	ENST00000300231.5	37	c.439	CCDS42031.1	15	.	.	.	.	.	.	.	.	.	.	G	14.92	2.680125	0.47886	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231;ENST00000442025	T;T;T	0.18960	2.18;2.18;2.18	5.1	5.1	0.69264	.	.	.	.	.	T	0.37945	0.1022	L	0.34521	1.04	0.58432	D	0.999995	D	0.71674	0.998	D	0.76575	0.988	T	0.15321	-1.0441	9	0.72032	D	0.01	-13.5848	18.7051	0.91635	0.0:0.0:1.0:0.0	.	147	P78559	MAP1A_HUMAN	H	385;147;147;147	ENSP00000371462:D385H;ENSP00000382380:D147H;ENSP00000300231:D147H	ENSP00000300231:D147H	D	+	1	0	MAP1A	41601402	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.657000	0.98554	2.659000	0.90383	0.561000	0.74099	GAT	MAP1A	-	NULL	ENSG00000166963		0.557	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP1A	HGNC	protein_coding	OTTHUMT00000132894.5	77	0.00	0	G	NM_002373		43814110	43814110	+1	no_errors	ENST00000399453	ensembl	human	known	69_37n	missense	87	32.56	42	SNP	1.000	C
MAP1A	4130	genome.wustl.edu	37	15	43814496	43814496	+	Silent	SNP	G	G	A			TCGA-A8-A07E-01A-11W-A050-09	TCGA-A8-A07E-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fa018a20-2c26-4d47-831f-75280b6464df	305efad7-ff5c-4c4a-8f59-2f5fd43710ec	g.chr15:43814496G>A	ENST00000300231.5	+	4	1275	c.825G>A	c.(823-825)aaG>aaA	p.K275K	MAP1A_ENST00000382031.1_Silent_p.K513K|MAP1A_ENST00000399453.1_Silent_p.K275K			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	275					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	CCCAAAACAAGATCTTGGAGG	0.542																																						dbGAP											0													64.0	64.0	64.0					15																	43814496		1931	4123	6054	-	-	-	SO:0001819	synonymous_variant	0			U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.825G>A	15.37:g.43814496G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O95643|Q12973|Q15882|Q9UJT4	Silent	SNP	NULL	p.K275	ENST00000300231.5	37	c.825	CCDS42031.1	15																																																																																			MAP1A	-	NULL	ENSG00000166963		0.542	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP1A	HGNC	protein_coding	OTTHUMT00000132894.5	57	0.00	0	G	NM_002373		43814496	43814496	+1	no_errors	ENST00000399453	ensembl	human	known	69_37n	silent	92	23.33	28	SNP	1.000	A
MAP1A	4130	genome.wustl.edu	37	15	43814971	43814971	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A07E-01A-11W-A050-09	TCGA-A8-A07E-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fa018a20-2c26-4d47-831f-75280b6464df	305efad7-ff5c-4c4a-8f59-2f5fd43710ec	g.chr15:43814971G>A	ENST00000300231.5	+	4	1750	c.1300G>A	c.(1300-1302)Gaa>Aaa	p.E434K	MAP1A_ENST00000382031.1_Missense_Mutation_p.E672K|MAP1A_ENST00000399453.1_Missense_Mutation_p.E434K			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	434	9 X 3 AA repeats of K-K-[DE].|Lys-rich (basic).				microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	caagaaggatgaaggaaggaa	0.413																																						dbGAP											0													34.0	34.0	34.0					15																	43814971		1881	4102	5983	-	-	-	SO:0001583	missense	0			U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.1300G>A	15.37:g.43814971G>A	ENSP00000300231:p.Glu434Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	NULL	p.E434K	ENST00000300231.5	37	c.1300	CCDS42031.1	15	.	.	.	.	.	.	.	.	.	.	G	13.74	2.327085	0.41197	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231;ENST00000442025	T;T;T	0.19806	2.12;2.12;2.12	5.4	5.4	0.78164	.	0.000000	0.34853	N	0.003634	T	0.17746	0.0426	L	0.46741	1.465	0.31683	N	0.642909	P	0.42518	0.782	B	0.38712	0.28	T	0.08310	-1.0728	10	0.20519	T	0.43	-13.2238	10.9329	0.47228	0.1434:0.0:0.8566:0.0	.	434	P78559	MAP1A_HUMAN	K	672;434;434;434	ENSP00000371462:E672K;ENSP00000382380:E434K;ENSP00000300231:E434K	ENSP00000300231:E434K	E	+	1	0	MAP1A	41602263	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.646000	0.74348	2.833000	0.97629	0.650000	0.86243	GAA	MAP1A	-	NULL	ENSG00000166963		0.413	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP1A	HGNC	protein_coding	OTTHUMT00000132894.5	89	0.00	0	G	NM_002373		43814971	43814971	+1	no_errors	ENST00000399453	ensembl	human	known	69_37n	missense	101	24.63	33	SNP	0.993	A
MAP1A	4130	genome.wustl.edu	37	15	43817718	43817718	+	Silent	SNP	G	G	A			TCGA-A8-A07E-01A-11W-A050-09	TCGA-A8-A07E-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fa018a20-2c26-4d47-831f-75280b6464df	305efad7-ff5c-4c4a-8f59-2f5fd43710ec	g.chr15:43817718G>A	ENST00000300231.5	+	4	4497	c.4047G>A	c.(4045-4047)ttG>ttA	p.L1349L	MAP1A_ENST00000382031.1_Silent_p.L1587L|MAP1A_ENST00000399453.1_Silent_p.L1349L			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1349					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	TTCCAGGGTTGAAAGACAGAA	0.483																																						dbGAP											0													86.0	82.0	83.0					15																	43817718		1886	4112	5998	-	-	-	SO:0001819	synonymous_variant	0			U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.4047G>A	15.37:g.43817718G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O95643|Q12973|Q15882|Q9UJT4	Silent	SNP	NULL	p.L1349	ENST00000300231.5	37	c.4047	CCDS42031.1	15																																																																																			MAP1A	-	NULL	ENSG00000166963		0.483	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP1A	HGNC	protein_coding	OTTHUMT00000132894.5	114	0.00	0	G	NM_002373		43817718	43817718	+1	no_errors	ENST00000399453	ensembl	human	known	69_37n	silent	176	24.14	56	SNP	0.001	A
MAP1A	4130	genome.wustl.edu	37	15	43818874	43818874	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A07E-01A-11W-A050-09	TCGA-A8-A07E-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fa018a20-2c26-4d47-831f-75280b6464df	305efad7-ff5c-4c4a-8f59-2f5fd43710ec	g.chr15:43818874G>A	ENST00000300231.5	+	4	5653	c.5203G>A	c.(5203-5205)Gat>Aat	p.D1735N	MAP1A_ENST00000382031.1_Missense_Mutation_p.D1973N|MAP1A_ENST00000399453.1_Missense_Mutation_p.D1735N			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1735					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	TGAGGGCCCAGATGATGAGCA	0.597																																						dbGAP											0													55.0	57.0	57.0					15																	43818874		1957	4149	6106	-	-	-	SO:0001583	missense	0			U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.5203G>A	15.37:g.43818874G>A	ENSP00000300231:p.Asp1735Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	NULL	p.D1735N	ENST00000300231.5	37	c.5203	CCDS42031.1	15	.	.	.	.	.	.	.	.	.	.	g	7.377	0.627944	0.14257	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231	T;T;T	0.01902	4.57;4.57;4.57	4.28	3.34	0.38264	.	.	.	.	.	T	0.02119	0.0066	N	0.20986	0.625	0.27025	N	0.964384	B	0.11235	0.004	B	0.12156	0.007	T	0.41520	-0.9504	9	0.34782	T	0.22	-2.3638	9.6334	0.39793	0.1005:0.0:0.8995:0.0	.	1735	P78559	MAP1A_HUMAN	N	1973;1735;1735	ENSP00000371462:D1973N;ENSP00000382380:D1735N;ENSP00000300231:D1735N	ENSP00000300231:D1735N	D	+	1	0	MAP1A	41606166	0.931000	0.31567	0.942000	0.38095	0.344000	0.29017	2.480000	0.45206	0.988000	0.38734	0.457000	0.33378	GAT	MAP1A	-	NULL	ENSG00000166963		0.597	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP1A	HGNC	protein_coding	OTTHUMT00000132894.5	70	0.00	0	G	NM_002373		43818874	43818874	+1	no_errors	ENST00000399453	ensembl	human	known	69_37n	missense	98	22.66	29	SNP	0.970	A
MARC1	64757	genome.wustl.edu	37	1	220971248	220971248	+	Silent	SNP	C	C	T			TCGA-A8-A07E-01A-11W-A050-09	TCGA-A8-A07E-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fa018a20-2c26-4d47-831f-75280b6464df	305efad7-ff5c-4c4a-8f59-2f5fd43710ec	g.chr1:220971248C>T	ENST00000366910.5	+	4	831	c.645C>T	c.(643-645)atC>atT	p.I215I	MARC1_ENST00000496110.1_3'UTR	NM_022746.3	NP_073583.3	Q5VT66	MARC1_HUMAN	mitochondrial amidoxime reducing component 1	215	MOSC. {ECO:0000255|PROSITE- ProRule:PRU00670}.				detoxification of nitrogen compound (GO:0051410)|nitrate metabolic process (GO:0042126)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	molybdenum ion binding (GO:0030151)|molybdopterin cofactor binding (GO:0043546)|nitrate reductase activity (GO:0008940)|pyridoxal phosphate binding (GO:0030170)										CATTCTTGATCCTTTCTGAGG	0.443																																						dbGAP											0													117.0	108.0	111.0					1																	220971248		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK026043	CCDS1526.1	1q41	2011-11-02	2011-11-02	2011-11-02	ENSG00000186205	ENSG00000186205			26189	protein-coding gene	gene with protein product		614126	"""MOCO sulphurase C-terminal domain containing 1"""	MOSC1		11886751	Standard	NM_022746		Approved	FLJ22390	uc001hms.3	Q5VT66	OTTHUMG00000037353	ENST00000366910.5:c.645C>T	1.37:g.220971248C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K447|B2D078|Q5VVS9|Q5VVT0|Q5VVT1|Q8N9P5|Q96FN8|Q9H6C7	Missense_Mutation	SNP	pfam_MoCF_Sase_C	p.S29F	ENST00000366910.5	37	c.86	CCDS1526.1	1	.	.	.	.	.	.	.	.	.	.	C	0.127	-1.118202	0.01785	.	.	ENSG00000186205	ENST00000407981	.	.	.	4.7	-7.5	0.01351	.	.	.	.	.	T	0.18045	0.0433	.	.	.	0.18873	N	0.999983	.	.	.	.	.	.	T	0.23368	-1.0190	4	.	.	.	0.5437	4.4124	0.11439	0.0829:0.2138:0.4056:0.2977	.	.	.	.	S	124	.	.	P	+	1	0	MOSC1	219037871	0.000000	0.05858	0.001000	0.08648	0.013000	0.08279	-2.710000	0.00818	-1.638000	0.01529	-0.253000	0.11424	CCT	MARC1	-	pfam_MoCF_Sase_C	ENSG00000186205		0.443	MARC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARC1	HGNC	protein_coding	OTTHUMT00000090904.1	193	0.00	0	C	NM_022746		220971248	220971248	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000463976	ensembl	human	known	69_37n	missense	247	38.71	156	SNP	0.000	T
MDN1	23195	genome.wustl.edu	37	6	90418279	90418279	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A07E-01A-11W-A050-09	TCGA-A8-A07E-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fa018a20-2c26-4d47-831f-75280b6464df	305efad7-ff5c-4c4a-8f59-2f5fd43710ec	g.chr6:90418279C>G	ENST00000369393.3	-	51	7949	c.7834G>C	c.(7834-7836)Gac>Cac	p.D2612H	MDN1_ENST00000428876.1_Missense_Mutation_p.D2612H			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	2612					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GGGTCAAAGTCCATCAAATTT	0.438																																						dbGAP											0													194.0	196.0	195.0					6																	90418279		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.7834G>C	6.37:g.90418279C>G	ENSP00000358400:p.Asp2612His	Somatic		WXS	Illumina GAIIx	Phase_IV	O15019|Q5T794	Missense_Mutation	SNP	pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A	p.D2612H	ENST00000369393.3	37	c.7834	CCDS5024.1	6	.	.	.	.	.	.	.	.	.	.	C	14.36	2.512184	0.44660	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.03745	3.82;3.82	5.53	4.66	0.58398	.	0.121154	0.56097	D	0.000026	T	0.01627	0.0052	L	0.29908	0.895	0.33654	D	0.608787	P	0.45283	0.855	B	0.42214	0.38	T	0.51756	-0.8665	10	0.62326	D	0.03	.	9.6664	0.39988	0.0:0.8282:0.0:0.1718	.	2612	Q9NU22	MDN1_HUMAN	H	2612	ENSP00000358400:D2612H;ENSP00000413970:D2612H	ENSP00000358400:D2612H	D	-	1	0	MDN1	90475000	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	1.841000	0.39240	1.484000	0.48361	0.655000	0.94253	GAC	MDN1	-	pirsf_Midasin	ENSG00000112159		0.438	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MDN1	HGNC	protein_coding	OTTHUMT00000041514.2	277	0.00	0	C			90418279	90418279	-1	no_errors	ENST00000369393	ensembl	human	known	69_37n	missense	279	24.12	89	SNP	1.000	G
MED13L	23389	genome.wustl.edu	37	12	116450669	116450669	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A07E-01A-11W-A050-09	TCGA-A8-A07E-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fa018a20-2c26-4d47-831f-75280b6464df	305efad7-ff5c-4c4a-8f59-2f5fd43710ec	g.chr12:116450669G>A	ENST00000281928.3	-	9	1419	c.1213C>T	c.(1213-1215)Cct>Tct	p.P405S		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	405						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		TTGCTAGCAGGCTCTTCTTCA	0.408																																						dbGAP											0													132.0	128.0	129.0					12																	116450669		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"""thyroid hormone receptor associated protein 2"""	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.1213C>T	12.37:g.116450669G>A	ENSP00000281928:p.Pro405Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Missense_Mutation	SNP	pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun	p.P405S	ENST00000281928.3	37	c.1213	CCDS9177.1	12	.	.	.	.	.	.	.	.	.	.	G	9.408	1.079692	0.20309	.	.	ENSG00000123066	ENST00000281928	T	0.72835	-0.69	5.72	2.74	0.32292	.	0.409878	0.28382	N	0.015547	T	0.35189	0.0923	N	0.02539	-0.55	0.22639	N	0.998904	B	0.02656	0.0	B	0.04013	0.001	T	0.19679	-1.0298	10	0.09843	T	0.71	.	3.9424	0.09333	0.0775:0.3357:0.3592:0.2276	.	405	Q71F56	MD13L_HUMAN	S	405	ENSP00000281928:P405S	ENSP00000281928:P405S	P	-	1	0	MED13L	114935052	0.971000	0.33674	1.000000	0.80357	0.998000	0.95712	0.420000	0.21263	1.529000	0.49120	0.650000	0.86243	CCT	MED13L	-	NULL	ENSG00000123066		0.408	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED13L	HGNC	protein_coding	OTTHUMT00000403879.3	221	0.00	0	G			116450669	116450669	-1	no_errors	ENST00000281928	ensembl	human	known	69_37n	missense	219	25.08	74	SNP	0.984	A
KMT2C	58508	genome.wustl.edu	37	7	151960160	151960160	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A07E-01A-11W-A050-09	TCGA-A8-A07E-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fa018a20-2c26-4d47-831f-75280b6464df	305efad7-ff5c-4c4a-8f59-2f5fd43710ec	g.chr7:151960160G>A	ENST00000262189.6	-	9	1458	c.1240C>T	c.(1240-1242)Cat>Tat	p.H414Y	KMT2C_ENST00000355193.2_Missense_Mutation_p.H414Y	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	414					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										CAAAAAGTATGATACCCTTTG	0.318																																						dbGAP											0													108.0	96.0	100.0					7																	151960160		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.1240C>T	7.37:g.151960160G>A	ENSP00000262189:p.His414Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.H414Y	ENST00000262189.6	37	c.1240	CCDS5931.1	7	.	.	.	.	.	.	.	.	.	.	G	19.83	3.899795	0.72754	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.99005	-5.32;-5.32	4.65	4.65	0.58169	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.46442	D	0.000288	D	0.99670	0.9877	H	0.99415	4.555	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.97011	0.9736	10	0.87932	D	0	.	17.923	0.88973	0.0:0.0:1.0:0.0	.	414	Q8NEZ4	MLL3_HUMAN	Y	414	ENSP00000262189:H414Y;ENSP00000347325:H414Y	ENSP00000262189:H414Y	H	-	1	0	MLL3	151591093	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.675000	0.98638	2.300000	0.77407	0.557000	0.71058	CAT	MLL3	-	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Znf_RING,pfscan_Znf_PHD-finger	ENSG00000055609		0.318	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	HGNC	protein_coding	OTTHUMT00000318887.3	184	0.00	0	G			151960160	151960160	-1	no_errors	ENST00000355193	ensembl	human	known	69_37n	missense	215	15.35	39	SNP	1.000	A
MYO1F	4542	genome.wustl.edu	37	19	8615476	8615476	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A07E-01A-11W-A050-09	TCGA-A8-A07E-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fa018a20-2c26-4d47-831f-75280b6464df	305efad7-ff5c-4c4a-8f59-2f5fd43710ec	g.chr19:8615476C>T	ENST00000338257.8	-	9	1141	c.874G>A	c.(874-876)Ggg>Agg	p.G292R	AC092316.1_ENST00000598703.1_RNA	NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	292	Myosin motor.				defense response to Gram-positive bacterium (GO:0050830)|negative regulation of cell adhesion (GO:0007162)|neutrophil degranulation (GO:0043312)|positive regulation of cell migration (GO:0030335)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of innate immune response (GO:0045088)	cortical actin cytoskeleton (GO:0030864)|filamentous actin (GO:0031941)|unconventional myosin complex (GO:0016461)	actin binding (GO:0003779)|ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						GCGTAATTCCCGTCTTCACAG	0.602																																						dbGAP											0													90.0	92.0	91.0					19																	8615476		2033	4175	6208	-	-	-	SO:0001583	missense	0			X98411	CCDS42494.1	19p13.3-p13.2	2011-09-27			ENSG00000142347	ENSG00000142347		"""Myosins / Myosin superfamily : Class I"""	7600	protein-coding gene	gene with protein product		601480				9119401, 8884266	Standard	NM_012335		Approved		uc002mkg.3	O00160	OTTHUMG00000156005	ENST00000338257.8:c.874G>A	19.37:g.8615476C>T	ENSP00000344871:p.Gly292Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8WWN7	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_SH3_domain,prints_Myosin_head_motor_dom,prints_SH3_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_SH3_domain	p.G292R	ENST00000338257.8	37	c.874	CCDS42494.1	19	.	.	.	.	.	.	.	.	.	.	C	16.21	3.059472	0.55325	.	.	ENSG00000142347	ENST00000305795;ENST00000338257	D	0.86562	-2.14	4.42	4.42	0.53409	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.85779	0.5776	L	0.39566	1.225	0.80722	D	1	P;D	0.53462	0.93;0.96	B;P	0.48552	0.426;0.581	D	0.86765	0.1969	10	0.48119	T	0.1	.	16.0297	0.80570	0.0:1.0:0.0:0.0	.	292;292	B0I1T1;O00160	.;MYO1F_HUMAN	R	337;292	ENSP00000344871:G292R	ENSP00000304899:G337R	G	-	1	0	MYO1F	8521476	1.000000	0.71417	1.000000	0.80357	0.106000	0.19336	5.807000	0.69157	2.025000	0.59659	0.557000	0.71058	GGG	MYO1F	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom	ENSG00000142347		0.602	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO1F	HGNC	protein_coding	OTTHUMT00000342716.2	81	0.00	0	C			8615476	8615476	-1	no_errors	ENST00000338257	ensembl	human	known	69_37n	missense	128	21.47	35	SNP	1.000	T
MYO9B	4650	genome.wustl.edu	37	19	17212961	17212961	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A07E-01A-11W-A050-09	TCGA-A8-A07E-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fa018a20-2c26-4d47-831f-75280b6464df	305efad7-ff5c-4c4a-8f59-2f5fd43710ec	g.chr19:17212961A>G	ENST00000594824.1	+	2	581	c.434A>G	c.(433-435)cAg>cGg	p.Q145R	CTD-2528A14.5_ENST00000597045.1_RNA|MYO9B_ENST00000397274.2_Missense_Mutation_p.Q145R|MYO9B_ENST00000595618.1_Missense_Mutation_p.Q145R			Q13459	MYO9B_HUMAN	myosin IXB	145					actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						CCACGGCAGCAGGCGGACTTT	0.597																																						dbGAP											0													49.0	52.0	51.0					19																	17212961		1990	4175	6165	-	-	-	SO:0001583	missense	0				CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"""Myosins / Myosin superfamily : Class IX"""	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.434A>G	19.37:g.17212961A>G	ENSP00000471367:p.Gln145Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	O75314|Q9NUJ2|Q9UHN0	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom	p.Q145R	ENST00000594824.1	37	c.434		19	.	.	.	.	.	.	.	.	.	.	A	12.59	1.982503	0.34942	.	.	ENSG00000099331	ENST00000397274	T	0.71341	-0.56	5.62	3.38	0.38709	Myosin head, motor domain (1);	0.141481	0.32533	N	0.005962	T	0.60495	0.2273	L	0.34521	1.04	0.34079	D	0.659393	B;B;B	0.25850	0.006;0.006;0.136	B;B;B	0.28991	0.011;0.011;0.097	T	0.64050	-0.6498	10	0.54805	T	0.06	.	11.8344	0.52314	0.6648:0.3352:0.0:0.0	.	145;145;151	Q13459;B0I1T6;Q4LE74	MYO9B_HUMAN;.;.	R	145	ENSP00000380444:Q145R	ENSP00000380444:Q145R	Q	+	2	0	MYO9B	17073961	1.000000	0.71417	0.548000	0.28192	0.614000	0.37383	3.999000	0.57031	0.331000	0.23511	0.533000	0.62120	CAG	MYO9B	-	smart_Myosin_head_motor_dom	ENSG00000099331		0.597	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	MYO9B	HGNC	protein_coding	OTTHUMT00000463236.1	42	0.00	0	A			17212961	17212961	+1	no_errors	ENST00000397274	ensembl	human	known	69_37n	missense	60	23.75	19	SNP	1.000	G
NCK2	8440	genome.wustl.edu	37	2	106471553	106471553	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A07E-01A-11W-A050-09	TCGA-A8-A07E-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fa018a20-2c26-4d47-831f-75280b6464df	305efad7-ff5c-4c4a-8f59-2f5fd43710ec	g.chr2:106471553G>T	ENST00000233154.4	+	3	476	c.34G>T	c.(34-36)Gac>Tac	p.D12Y	NCK2_ENST00000522586.1_Missense_Mutation_p.D12Y|AC009505.2_ENST00000596418.1_RNA|NCK2_ENST00000393349.2_Missense_Mutation_p.D12Y|AC009505.2_ENST00000427050.2_RNA|NCK2_ENST00000451463.2_Missense_Mutation_p.D12Y|AC009505.2_ENST00000598281.1_RNA	NM_003581.4	NP_003572.2	O43639	NCK2_HUMAN	NCK adaptor protein 2	12	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin filament organization (GO:0007015)|axon guidance (GO:0007411)|cell migration (GO:0016477)|epidermal growth factor receptor signaling pathway (GO:0007173)|lamellipodium assembly (GO:0030032)|negative regulation of cell proliferation (GO:0008285)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of translation (GO:0006417)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|vesicle membrane (GO:0012506)	cytoskeletal adaptor activity (GO:0008093)|receptor signaling complex scaffold activity (GO:0030159)			endometrium(1)|lung(3)|ovary(1)	5						AGCCAAGTGGGACTACACCGC	0.537																																						dbGAP											0													92.0	90.0	91.0					2																	106471553		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF043119	CCDS33266.1	2q12	2013-02-14			ENSG00000071051	ENSG00000071051		"""SH2 domain containing"""	7665	protein-coding gene	gene with protein product		604930				9737977, 16752908	Standard	NM_001004720		Approved	NCKbeta	uc002tdi.3	O43639	OTTHUMG00000153116	ENST00000233154.4:c.34G>T	2.37:g.106471553G>T	ENSP00000233154:p.Asp12Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DVK1|Q9BWN9|Q9UIC3	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_SH2,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,pirsf_Cytoplasmic_NCK,pfscan_SH2,pfscan_SH3_domain,prints_SH2,prints_SH3_domain	p.D12Y	ENST00000233154.4	37	c.34	CCDS33266.1	2	.	.	.	.	.	.	.	.	.	.	G	29.4	5.005912	0.93287	.	.	ENSG00000071051	ENST00000233154;ENST00000451463;ENST00000393348;ENST00000522586;ENST00000425756;ENST00000393349	T;T;T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28;-0.28;-0.28	5.84	5.84	0.93424	Src homology-3 domain (5);	0.000000	0.85682	D	0.000000	D	0.89588	0.6758	H	0.98005	4.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.92750	0.6215	10	0.87932	D	0	.	20.1381	0.98040	0.0:0.0:1.0:0.0	.	12;12	E7ERP6;O43639	.;NCK2_HUMAN	Y	12	ENSP00000233154:D12Y;ENSP00000410428:D12Y;ENSP00000377017:D12Y;ENSP00000431109:D12Y;ENSP00000408040:D12Y;ENSP00000377018:D12Y	ENSP00000233154:D12Y	D	+	1	0	NCK2	105837985	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.433000	0.97501	2.763000	0.94921	0.650000	0.86243	GAC	NCK2	-	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pirsf_Cytoplasmic_NCK,pfscan_SH3_domain,prints_SH3_domain	ENSG00000071051		0.537	NCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCK2	HGNC	protein_coding	OTTHUMT00000329634.1	176	0.00	0	G	NM_003581		106471553	106471553	+1	no_errors	ENST00000233154	ensembl	human	known	69_37n	missense	163	24.07	52	SNP	1.000	T
NEK2	4751	genome.wustl.edu	37	1	211848787	211848787	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A07E-01A-11W-A050-09	TCGA-A8-A07E-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fa018a20-2c26-4d47-831f-75280b6464df	305efad7-ff5c-4c4a-8f59-2f5fd43710ec	g.chr1:211848787T>C	ENST00000366999.4	-	1	173	c.35A>G	c.(34-36)tAc>tGc	p.Y12C	NEK2_ENST00000540251.1_Intron|RP11-122M14.1_ENST00000415202.1_RNA|NEK2_ENST00000366998.3_Missense_Mutation_p.Y12C	NM_002497.3	NP_002488.1	P51955	NEK2_HUMAN	NIMA-related kinase 2	12	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blastocyst development (GO:0001824)|centrosome separation (GO:0051299)|chromosome segregation (GO:0007059)|G2/M transition of mitotic cell cycle (GO:0000086)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of centriole-centriole cohesion (GO:1903126)|negative regulation of DNA binding (GO:0043392)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of mitosis (GO:0007088)|regulation of mitotic centrosome separation (GO:0046602)|spindle assembly (GO:0051225)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|microtubule (GO:0005874)|midbody (GO:0030496)|nucleus (GO:0005634)|protein complex (GO:0043234)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|stomach(1)	3				OV - Ovarian serous cystadenocarcinoma(81;0.00203)|all cancers(67;0.0339)|Epithelial(68;0.0546)		GCCAATGGTGTACAACACTTC	0.652																																						dbGAP											0													75.0	75.0	75.0					1																	211848787		2203	4300	6503	-	-	-	SO:0001583	missense	0			U11050	CCDS1500.1, CCDS55682.1, CCDS73024.1	1q32.3	2014-06-12	2012-11-15		ENSG00000117650	ENSG00000117650			7745	protein-coding gene	gene with protein product	"""HsPK 21"", ""protein phosphatase 1, regulatory subunit 111"""	604043	"""NIMA (never in mitosis gene a)-related kinase 2"""			8274451, 24043777	Standard	NM_002497		Approved	NLK1, NEK2A, RP67, PPP1R111	uc001hir.2	P51955	OTTHUMG00000037121	ENST00000366999.4:c.35A>G	1.37:g.211848787T>C	ENSP00000355966:p.Tyr12Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53FD6|Q5I1Z9|Q5VXZ1|Q6NZX8|Q7Z634|Q86XH2|Q96QN9	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.Y12C	ENST00000366999.4	37	c.35	CCDS1500.1	1	.	.	.	.	.	.	.	.	.	.	T	17.63	3.437245	0.62955	.	.	ENSG00000117650	ENST00000366999;ENST00000366998	T;T	0.24151	1.87;1.87	5.35	4.15	0.48705	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.720212	0.14735	N	0.301517	T	0.24890	0.0604	N	0.12746	0.255	0.80722	D	1	P;B;B	0.36789	0.57;0.314;0.268	P;P;P	0.49637	0.617;0.536;0.564	T	0.10636	-1.0621	10	0.66056	D	0.02	.	10.3347	0.43844	0.2013:0.0:0.0:0.7987	.	12;12;12	P51955-2;P51955;P51955-4	.;NEK2_HUMAN;.	C	12	ENSP00000355966:Y12C;ENSP00000355965:Y12C	ENSP00000355965:Y12C	Y	-	2	0	NEK2	209915410	0.561000	0.26578	1.000000	0.80357	0.928000	0.56348	0.730000	0.26043	2.371000	0.80710	0.533000	0.62120	TAC	NEK2	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000117650		0.652	NEK2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	NEK2	HGNC	protein_coding	OTTHUMT00000090154.1	45	0.00	0	T	NM_002497		211848787	211848787	-1	no_errors	ENST00000366999	ensembl	human	known	69_37n	missense	91	14.95	16	SNP	0.996	C
NRAP	4892	genome.wustl.edu	37	10	115385844	115385845	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A8-A07E-01A-11W-A050-09	TCGA-A8-A07E-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fa018a20-2c26-4d47-831f-75280b6464df	305efad7-ff5c-4c4a-8f59-2f5fd43710ec	g.chr10:115385844_115385845insC	ENST00000359988.3	-	21	2449_2450	c.2205_2206insG	c.(2203-2208)cagatgfs	p.M736fs	NRAP_ENST00000360478.3_Frame_Shift_Ins_p.M701fs|NRAP_ENST00000369358.4_Frame_Shift_Ins_p.M744fs|NRAP_ENST00000369360.3_Frame_Shift_Ins_p.M709fs	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein											autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		GCGTGCTCCATCTGGGAGCTGT	0.589																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.2206dupG	10.37:g.115385845_115385845dupC	ENSP00000353078:p.Met736fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Ins	INS	pfam_Nebulin_35r-motif,pfam_Znf_LIM,smart_Znf_LIM,smart_Nebulin_35r-motif,pfscan_Znf_LIM,pfscan_Nebulin_35r-motif,prints_Nebulin	p.M743fs	ENST00000359988.3	37	c.2230_2229	CCDS7579.1	10																																																																																			NRAP	-	pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif	ENSG00000197893		0.589	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRAP	HGNC	protein_coding	OTTHUMT00000050425.2	161	0.00	0	-	NM_006175		115385844	115385845	-1	no_errors	ENST00000369358	ensembl	human	known	69_37n	frame_shift_ins	567	70.45	1352	INS	1.000:1.000	C
OTUD4	54726	genome.wustl.edu	37	4	146076763	146076763	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A07E-01A-11W-A050-09	TCGA-A8-A07E-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fa018a20-2c26-4d47-831f-75280b6464df	305efad7-ff5c-4c4a-8f59-2f5fd43710ec	g.chr4:146076763A>G	ENST00000447906.2	-	9	953	c.766T>C	c.(766-768)Tat>Cat	p.Y256H	OTUD4_ENST00000454497.2_Missense_Mutation_p.Y191H|OTUD4_ENST00000455611.2_5'UTR			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	256					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					ACATTTCTATAGACTGCAGGA	0.368																																						dbGAP											0													110.0	110.0	110.0					4																	146076763		2202	4300	6502	-	-	-	SO:0001583	missense	0				CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"""OTU domain containing"""	24949	protein-coding gene	gene with protein product		611744	"""OTU domain containing 4"""			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.766T>C	4.37:g.146076763A>G	ENSP00000395487:p.Tyr256His	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Missense_Mutation	SNP	pfam_OTU,pfscan_OTU	p.Y256H	ENST00000447906.2	37	c.766		4	.	.	.	.	.	.	.	.	.	.	A	19.58	3.854760	0.71719	.	.	ENSG00000164164	ENST00000454497;ENST00000447906;ENST00000514973	T;T;T	0.70631	-0.5;-0.44;-0.28	5.37	5.37	0.77165	.	0.000000	0.64402	D	0.000004	D	0.85579	0.5729	M	0.84948	2.725	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.88123	0.2833	10	0.87932	D	0	-16.0805	15.6594	0.77174	1.0:0.0:0.0:0.0	.	256;255	G3V0I6;Q01804	.;OTUD4_HUMAN	H	191;256;190	ENSP00000409279:Y191H;ENSP00000395487:Y256H;ENSP00000425972:Y190H	ENSP00000395487:Y256H	Y	-	1	0	OTUD4	146296213	1.000000	0.71417	1.000000	0.80357	0.683000	0.39861	5.171000	0.64996	2.156000	0.67533	0.533000	0.62120	TAT	OTUD4	-	NULL	ENSG00000164164		0.368	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	OTUD4	HGNC	protein_coding	OTTHUMT00000365117.2	88	0.00	0	A	NM_017493		146076763	146076763	-1	no_errors	ENST00000447906	ensembl	human	known	69_37n	missense	70	36.36	40	SNP	1.000	G
PHF6	84295	genome.wustl.edu	37	X	133527637	133527637	+	Missense_Mutation	SNP	G	G	A	rs267606359		TCGA-A8-A07E-01A-11W-A050-09	TCGA-A8-A07E-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fa018a20-2c26-4d47-831f-75280b6464df	305efad7-ff5c-4c4a-8f59-2f5fd43710ec	g.chrX:133527637G>A	ENST00000332070.3	+	4	549	c.347G>A	c.(346-348)cGa>cAa	p.R116Q	PHF6_ENST00000370799.1_Missense_Mutation_p.R116Q|PHF6_ENST00000416404.2_Missense_Mutation_p.R82Q|PHF6_ENST00000370803.3_Missense_Mutation_p.R116Q|PHF6_ENST00000394292.1_Missense_Mutation_p.R116Q|PHF6_ENST00000370800.4_Missense_Mutation_p.R116Q	NM_032458.2	NP_115834.1	Q8IWS0	PHF6_HUMAN	PHD finger protein 6	116	Extended PHD1 domain (ePHD1).				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)|phosphoprotein binding (GO:0051219)|poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)|scaffold protein binding (GO:0097110)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(88)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(1)|skin(1)|urinary_tract(1)	103	Acute lymphoblastic leukemia(192;0.000127)					GCTCAAATACGAGAGAAACCT	0.328			"""F, N, Splice, Mis"""		ETP ALL																																Colon(100;666 1493 6344 21231 35807)	dbGAP		Rec	yes		X	Xq26.3	84295	PHD finger protein 6		L	0													126.0	106.0	113.0					X																	133527637		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB058726	CCDS14639.1, CCDS14640.1	Xq26	2014-09-17			ENSG00000156531	ENSG00000156531		"""Zinc fingers, PHD-type"""	18145	protein-coding gene	gene with protein product	"""centromere protein 31"""	300414	"""Borjeson-Forssman-Lehmann syndrome"""	BFLS, BORJ		12415272, 15466013	Standard	NM_032335		Approved	KIAA1823, MGC14797, CENP-31	uc004exk.3	Q8IWS0	OTTHUMG00000022453	ENST00000332070.3:c.347G>A	X.37:g.133527637G>A	ENSP00000329097:p.Arg116Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K230|B4E0G4|D3DTG3|E9PC97|Q5JRC7|Q5JRC8|Q96JK3|Q9BRU0	Missense_Mutation	SNP	superfamily_Znf_FYVE_PHD,smart_Znf_PHD	p.R116Q	ENST00000332070.3	37	c.347	CCDS14639.1	X	.	.	.	.	.	.	.	.	.	.	G	13.52	2.261387	0.39995	.	.	ENSG00000156531	ENST00000370803;ENST00000332070;ENST00000394292;ENST00000370799;ENST00000416404;ENST00000370800	T;T;T;T;T;T	0.70045	-0.45;-0.45;-0.45;-0.45;-0.45;0.01	5.06	5.06	0.68205	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type (1);	0.105333	0.64402	D	0.000006	T	0.25044	0.0608	N	0.00188	-1.89	0.38922	D	0.957764	B;B;B;B;B	0.21309	0.054;0.004;0.041;0.041;0.017	B;B;B;B;B	0.15484	0.008;0.013;0.008;0.008;0.004	T	0.42464	-0.9450	10	0.07813	T	0.8	-8.3654	10.4372	0.44443	0.0918:0.0:0.9082:0.0	.	82;116;116;116;116	B4E0G4;A8K230;Q8IWS0;E9PC97;Q8IWS0-2	.;.;PHF6_HUMAN;.;.	Q	116;116;116;116;82;116	ENSP00000359839:R116Q;ENSP00000329097:R116Q;ENSP00000377831:R116Q;ENSP00000359835:R116Q;ENSP00000394480:R82Q;ENSP00000359836:R116Q	ENSP00000329097:R116Q	R	+	2	0	PHF6	133355303	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.050000	0.76620	2.242000	0.73789	0.462000	0.41574	CGA	PHF6	-	superfamily_Znf_FYVE_PHD,smart_Znf_PHD	ENSG00000156531		0.328	PHF6-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	PHF6	HGNC	protein_coding	OTTHUMT00000058367.1	114	0.00	0	G	NM_032458		133527637	133527637	+1	no_errors	ENST00000394292	ensembl	human	known	69_37n	missense	164	14.14	27	SNP	1.000	A
POLR2B	5431	genome.wustl.edu	37	4	57876368	57876368	+	Intron	SNP	T	T	G			TCGA-A8-A07E-01A-11W-A050-09	TCGA-A8-A07E-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fa018a20-2c26-4d47-831f-75280b6464df	305efad7-ff5c-4c4a-8f59-2f5fd43710ec	g.chr4:57876368T>G	ENST00000381227.1	+	12	1817				POLR2B_ENST00000431623.2_Intron|POLR2B_ENST00000314595.5_Intron|POLR2B_ENST00000441246.2_Intron|POLR2B_ENST00000510355.1_Splice_Site			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa						7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonucleoside binding (GO:0032549)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					AAGTGGCAGGTAAGTTAAAGT	0.353																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0				CCDS3511.1	4q12	2013-01-21	2002-08-29		ENSG00000047315	ENSG00000047315		"""RNA polymerase subunits"""	9188	protein-coding gene	gene with protein product		180661	"""polymerase (RNA) II (DNA directed) polypeptide B (140kD)"""			1518060, 8034326	Standard	NM_000938		Approved	RPB2	uc003hcl.1	P30876	OTTHUMG00000128771	ENST00000381227.1:c.1405-159T>G	4.37:g.57876368T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1A8|Q8IZ61	Splice_Site	SNP	-	NULL	ENST00000381227.1	37	c.NULL	CCDS3511.1	4																																																																																			POLR2B	-	-	ENSG00000047315		0.353	POLR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR2B	HGNC	protein_coding	OTTHUMT00000250692.1	10	0.00	0	T	NM_000938		57876368	57876368	+1	no_errors	ENST00000510355	ensembl	human	known	69_37n	splice_site	6	76.92	20	SNP	0.001	G
PRAMEF4	400735	genome.wustl.edu	37	1	12941807	12941807	+	Missense_Mutation	SNP	C	C	T	rs562920609		TCGA-A8-A07E-01A-11W-A050-09	TCGA-A8-A07E-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fa018a20-2c26-4d47-831f-75280b6464df	305efad7-ff5c-4c4a-8f59-2f5fd43710ec	g.chr1:12941807C>T	ENST00000235349.5	-	3	813	c.743G>A	c.(742-744)cGc>cAc	p.R248H		NM_001009611.2	NP_001009611.1	O60810	PRAM4_HUMAN	PRAME family member 4	248					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.R248H(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GGAAACGTAGCGAGAGACATC	0.483																																						dbGAP											2	Substitution - Missense(2)	large_intestine(2)											252.0	302.0	284.0					1																	12941807		1442	2515	3957	-	-	-	SO:0001583	missense	0				CCDS30592.1	1p36.21	2013-01-17			ENSG00000243073	ENSG00000243073		"""-"""	31971	protein-coding gene	gene with protein product							Standard	NM_001009611		Approved	RP5-845O24.6	uc001aun.2	O60810	OTTHUMG00000001987	ENST00000235349.5:c.743G>A	1.37:g.12941807C>T	ENSP00000235349:p.Arg248His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5LJB5	Missense_Mutation	SNP	NULL	p.R248H	ENST00000235349.5	37	c.743	CCDS30592.1	1	.	.	.	.	.	.	.	.	.	.	c	0.006	-2.056274	0.00390	.	.	ENSG00000243073	ENST00000235349	T	0.50548	0.74	1.02	-2.03	0.07365	.	1.275850	0.05537	N	0.565066	T	0.18257	0.0438	N	0.03050	-0.425	0.09310	N	1	B	0.17268	0.021	B	0.16722	0.016	T	0.04242	-1.0966	10	0.15066	T	0.55	.	0.456	0.00509	0.196:0.2286:0.3292:0.2461	.	248	O60810	PRAM4_HUMAN	H	248	ENSP00000235349:R248H	ENSP00000235349:R248H	R	-	2	0	PRAMEF4	12864394	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.376000	0.02561	-2.157000	0.00789	-1.441000	0.01070	CGC	PRAMEF4	-	NULL	ENSG00000243073		0.483	PRAMEF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF4	HGNC	protein_coding	OTTHUMT00000005518.1	17	0.00	0	C	NM_001009611		12941807	12941807	-1	no_errors	ENST00000235349	ensembl	human	known	69_37n	missense	52	24.64	17	SNP	0.000	T
PQLC2	54896	genome.wustl.edu	37	1	19655106	19655106	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A07E-01A-11W-A050-09	TCGA-A8-A07E-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fa018a20-2c26-4d47-831f-75280b6464df	305efad7-ff5c-4c4a-8f59-2f5fd43710ec	g.chr1:19655106C>T	ENST00000375153.3	+	8	1485	c.845C>T	c.(844-846)gCc>gTc	p.A282V	PQLC2_ENST00000375155.3_Missense_Mutation_p.A282V|PQLC2_ENST00000400548.2_Missense_Mutation_p.A217V	NM_001040125.1	NP_001035214.1	Q6ZP29	LAAT1_HUMAN	PQ loop repeat containing 2	282					amino acid homeostasis (GO:0080144)|arginine transport (GO:0015809)|lysine transport (GO:0015819)	integral component of organelle membrane (GO:0031301)|lysosomal membrane (GO:0005765)	arginine transmembrane transporter activity (GO:0015181)|basic amino acid transmembrane transporter activity (GO:0015174)|L-lysine transmembrane transporter activity (GO:0015189)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1)	10		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;1.89e-05)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		AGCACCGCCGCCTCGGAGCTT	0.667																																						dbGAP											0													69.0	53.0	58.0					1																	19655106		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC015324	CCDS195.2, CCDS30618.1	1p36.13	2013-10-11			ENSG00000040487	ENSG00000040487			26001	protein-coding gene	gene with protein product		614760				23169667	Standard	XM_005245915		Approved	FLJ20320	uc001bby.3	Q6ZP29	OTTHUMG00000002521	ENST00000375153.3:c.845C>T	1.37:g.19655106C>T	ENSP00000364295:p.Ala282Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KWQ5|Q6ZMJ3|Q6ZP27|Q9NXC7	Missense_Mutation	SNP	superfamily_MFS_dom_general_subst_transpt,smart_CTNS	p.A282V	ENST00000375153.3	37	c.845	CCDS195.2	1	.	.	.	.	.	.	.	.	.	.	C	12.36	1.916052	0.33815	.	.	ENSG00000040487	ENST00000375155;ENST00000375153;ENST00000400548	T;T	0.45276	0.9;0.9	3.32	2.39	0.29439	.	1.876410	0.01942	N	0.041996	T	0.18882	0.0453	N	0.01352	-0.895	0.09310	N	1	B	0.13594	0.008	B	0.14023	0.01	T	0.16188	-1.0411	10	0.28530	T	0.3	-23.1409	6.4906	0.22113	0.0:0.8647:0.0:0.1353	.	282	Q6ZP29	PQLC2_HUMAN	V	282;282;217	ENSP00000364297:A282V;ENSP00000364295:A282V	ENSP00000364295:A282V	A	+	2	0	PQLC2	19527693	0.000000	0.05858	0.029000	0.17559	0.282000	0.26991	0.646000	0.24797	0.964000	0.38108	0.491000	0.48974	GCC	PQLC2	-	NULL	ENSG00000040487		0.667	PQLC2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PQLC2	HGNC	protein_coding	OTTHUMT00000007255.1	28	0.00	0	C	NM_017765		19655106	19655106	+1	no_errors	ENST00000375153	ensembl	human	known	69_37n	missense	25	24.24	8	SNP	0.010	T
PSG1	5669	genome.wustl.edu	37	19	43375943	43375943	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A07E-01A-11W-A050-09	TCGA-A8-A07E-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fa018a20-2c26-4d47-831f-75280b6464df	305efad7-ff5c-4c4a-8f59-2f5fd43710ec	g.chr19:43375943C>T	ENST00000436291.2	-	3	801	c.685G>A	c.(685-687)Gac>Aac	p.D229N	PSG1_ENST00000403380.3_Intron|PSG1_ENST00000595124.1_Intron|PSG1_ENST00000595356.1_Missense_Mutation_p.D229N|PSG1_ENST00000312439.6_Missense_Mutation_p.D229N|PSG1_ENST00000244296.2_Missense_Mutation_p.D229N	NM_001184825.1|NM_001184826.1	NP_001171754.1|NP_001171755.1	P11464	PSG1_HUMAN	pregnancy specific beta-1-glycoprotein 1	229	Ig-like C2-type 1.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				GTGACTGGGTCACTGCGGCTG	0.542																																						dbGAP											0													181.0	192.0	188.0					19																	43375943		2200	4296	6496	-	-	-	SO:0001583	missense	0				CCDS12612.1, CCDS54275.1, CCDS59392.1, CCDS74380.1	19q13.2	2013-01-29			ENSG00000231924	ENSG00000231924		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9514	protein-coding gene	gene with protein product		176390		PSBG1			Standard	NM_006905		Approved	PSGGA, CD66f, PBG1		P11464	OTTHUMG00000151123	ENST00000436291.2:c.685G>A	19.37:g.43375943C>T	ENSP00000413041:p.Asp229Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	O75236|P11462|P11463|Q15231|Q15241|Q15243|Q16660|Q6ICR4|Q9P1W5|Q9UQ79	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.D229N	ENST00000436291.2	37	c.685	CCDS54275.1	19	.	.	.	.	.	.	.	.	.	.	N	13.42	2.231980	0.39399	.	.	ENSG00000231924	ENST00000436291;ENST00000312439;ENST00000244296	T;T;T	0.00873	5.59;5.59;5.59	1.64	0.212	0.15240	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.02848	0.0085	L	0.55103	1.725	0.09310	N	1	P;D;D;D;P;B;B;D	0.89917	0.67;0.995;1.0;1.0;0.931;0.097;0.027;1.0	P;D;D;D;P;B;B;D	0.91635	0.708;0.961;0.995;0.999;0.708;0.117;0.208;0.992	T	0.47598	-0.9105	9	0.72032	D	0.01	.	5.0795	0.14649	0.0:0.6175:0.3825:0.0	.	229;229;229;229;229;101;229;229	O75238;P11464-4;P11464;P11464-3;Q9UPK8;B4DTG5;O75237;P11464-2	.;.;PSG1_HUMAN;.;.;.;.;.	N	229	ENSP00000413041:D229N;ENSP00000308970:D229N;ENSP00000244296:D229N	ENSP00000244296:D229N	D	-	1	0	PSG1	48067783	0.605000	0.26941	0.114000	0.21550	0.072000	0.16883	0.654000	0.24918	0.911000	0.36747	0.184000	0.17185	GAC	PSG1	-	smart_Ig_sub,pfscan_Ig-like	ENSG00000231924		0.542	PSG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PSG1	HGNC	protein_coding	OTTHUMT00000321426.1	206	0.00	0	C			43375943	43375943	-1	no_errors	ENST00000312439	ensembl	human	known	69_37n	missense	224	21.60	62	SNP	0.109	T
RBMXL3	139804	genome.wustl.edu	37	X	114425006	114425006	+	Silent	SNP	C	C	T			TCGA-A8-A07E-01A-11W-A050-09	TCGA-A8-A07E-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fa018a20-2c26-4d47-831f-75280b6464df	305efad7-ff5c-4c4a-8f59-2f5fd43710ec	g.chrX:114425006C>T	ENST00000424776.3	+	1	1044	c.1002C>T	c.(1000-1002)ggC>ggT	p.G334G	LRCH2_ENST00000538422.1_Intron|LRCH2_ENST00000317135.8_Intron	NM_001145346.1	NP_001138818.1	Q8N7X1	RMXL3_HUMAN	RNA binding motif protein, X-linked-like 3	334							nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(13)|kidney(2)|skin(1)	16						AGTACCAGGGCAACTCGCCCG	0.647																																						dbGAP											0													34.0	35.0	35.0					X																	114425006		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0			AK097568	CCDS55478.1	Xq23	2013-02-12	2009-03-24	2009-03-24	ENSG00000175718	ENSG00000175718		"""RNA binding motif (RRM) containing"""	26859	protein-coding gene	gene with protein product			"""chromosome X open reading frame 55"""	CXorf55			Standard	NM_001145346		Approved	FLJ40249	uc011mte.1	Q8N7X1	OTTHUMG00000022230	ENST00000424776.3:c.1002C>T	X.37:g.114425006C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DXC0	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.G334	ENST00000424776.3	37	c.1002	CCDS55478.1	X																																																																																			RBMXL3	-	NULL	ENSG00000175718		0.647	RBMXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBMXL3	HGNC	protein_coding	OTTHUMT00000057968.3	23	0.00	0	C	NM_001145346		114425006	114425006	+1	no_errors	ENST00000424776	ensembl	human	known	69_37n	silent	11	35.29	6	SNP	0.008	T
RBP3	5949	genome.wustl.edu	37	10	48388061	48388064	+	Frame_Shift_Del	DEL	CGTG	CGTG	-	rs201711001		TCGA-A8-A07E-01A-11W-A050-09	TCGA-A8-A07E-10A-01W-A055-09	CGTG	CGTG					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fa018a20-2c26-4d47-831f-75280b6464df	305efad7-ff5c-4c4a-8f59-2f5fd43710ec	g.chr10:48388061_48388064delCGTG	ENST00000224600.4	-	1	2927_2930	c.2814_2817delCACG	c.(2812-2817)cccacgfs	p.PT938fs	AL731561.2_ENST00000581861.1_RNA	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	938	4 X approximate tandem repeats.				lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transport (GO:0006810)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interphotoreceptor matrix (GO:0033165)|vesicle (GO:0031982)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	TCTGCAGCACCGTGGGCACCTTGG	0.632																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203			9921	protein-coding gene	gene with protein product		180290	"""retinol-binding protein 3, interstitial"""				Standard	NM_002900		Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.2814_2817delCACG	10.37:g.48388061_48388064delCGTG	ENSP00000224600:p.Pro938fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0QD34|Q5VSR0|Q8IXN0	Frame_Shift_Del	DEL	pfam_Interphotoreceptor_retinol-bd,pfam_Interphotorcpt_retinol-bd_N,smart_Interphotoreceptor_retinol-bd	p.T939fs	ENST00000224600.4	37	c.2817_2814	CCDS7218.1	10																																																																																			RBP3	-	NULL	ENSG00000107618		0.632	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBP3	HGNC	protein_coding	OTTHUMT00000047888.1	19	0.00	0	CGTG	NM_002900		48388061	48388064	-1	no_errors	ENST00000224600	ensembl	human	known	69_37n	frame_shift_del	10	82.89	63	DEL	0.002:0.995:0.997:1.000	-
RBP3	5949	genome.wustl.edu	37	10	48388069	48388069	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A8-A07E-01A-11W-A050-09	TCGA-A8-A07E-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fa018a20-2c26-4d47-831f-75280b6464df	305efad7-ff5c-4c4a-8f59-2f5fd43710ec	g.chr10:48388069delC	ENST00000224600.4	-	1	2922	c.2809delG	c.(2809-2811)gtgfs	p.V937fs	AL731561.2_ENST00000581861.1_RNA	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	937	4 X approximate tandem repeats.				lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transport (GO:0006810)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interphotoreceptor matrix (GO:0033165)|vesicle (GO:0031982)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	ACCGTGGGCACCTTGGCACGC	0.632																																						dbGAP											0													53.0	52.0	52.0					10																	48388069		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203			9921	protein-coding gene	gene with protein product		180290	"""retinol-binding protein 3, interstitial"""				Standard	NM_002900		Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.2809delG	10.37:g.48388069delC	ENSP00000224600:p.Val937fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0QD34|Q5VSR0|Q8IXN0	Frame_Shift_Del	DEL	pfam_Interphotoreceptor_retinol-bd,pfam_Interphotorcpt_retinol-bd_N,smart_Interphotoreceptor_retinol-bd	p.V937fs	ENST00000224600.4	37	c.2809	CCDS7218.1	10																																																																																			RBP3	-	NULL	ENSG00000107618		0.632	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBP3	HGNC	protein_coding	OTTHUMT00000047888.1	18	0.00	0	C	NM_002900		48388069	48388069	-1	no_errors	ENST00000224600	ensembl	human	known	69_37n	frame_shift_del	6	91.30	63	DEL	1.000	-
RHBDD2	57414	genome.wustl.edu	37	7	75513141	75513141	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A07E-01A-11W-A050-09	TCGA-A8-A07E-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fa018a20-2c26-4d47-831f-75280b6464df	305efad7-ff5c-4c4a-8f59-2f5fd43710ec	g.chr7:75513141G>A	ENST00000006777.6	+	3	847	c.712G>A	c.(712-714)Gag>Aag	p.E238K	RHBDD2_ENST00000428119.1_Missense_Mutation_p.E97K|RHBDD2_ENST00000318622.4_Missense_Mutation_p.E97K|RHBDD2_ENST00000468304.1_Intron	NM_001040456.1	NP_001035546.1	Q6NTF9	RHBD2_HUMAN	rhomboid domain containing 2	238						Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	serine-type endopeptidase activity (GO:0004252)			kidney(1)|lung(4)|prostate(1)	6						GTCTTCAGCCGAGAGGAGGGC	0.463																																						dbGAP											0													121.0	119.0	120.0					7																	75513141		1947	4141	6088	-	-	-	SO:0001583	missense	0			AF226732	CCDS43602.1, CCDS43603.1	7q11	2008-09-04	2006-02-22	2006-02-22	ENSG00000005486	ENSG00000005486			23082	protein-coding gene	gene with protein product		615203	"""rhomboid, veinlet-like 7 (Drosophila)"""	RHBDL7		12838346	Standard	XM_005250511		Approved	NPD007	uc003udw.1	Q6NTF9	OTTHUMG00000156435	ENST00000006777.6:c.712G>A	7.37:g.75513141G>A	ENSP00000006777:p.Glu238Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q7L534|Q9H5W6|Q9HBK7|Q9UDT2	Missense_Mutation	SNP	pfam_Peptidase_S54_rhomboid_dom	p.E238K	ENST00000006777.6	37	c.712	CCDS43602.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.54|13.54	2.267117|2.267117	0.40095|0.40095	.|.	.|.	ENSG00000005486|ENSG00000005486	ENST00000006777;ENST00000318622;ENST00000428119|ENST00000413229	T|.	0.60920|.	0.15|.	5.27|5.27	5.27|5.27	0.74061|0.74061	.|.	1.538920|.	0.03696|.	N|.	0.247809|.	T|T	0.59676|0.59676	0.2211|0.2211	L|L	0.29908|0.29908	0.895|0.895	0.51012|0.51012	D|D	0.999905|0.999905	D|.	0.89917|.	1.0|.	D|.	0.78314|.	0.991|.	T|T	0.58934|0.58934	-0.7548|-0.7548	10|6	0.25751|0.44086	T|T	0.34|0.13	-6.3587|-6.3587	18.2914|18.2914	0.90131|0.90131	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	238|.	Q6NTF9|.	RHBD2_HUMAN|.	K|Q	238;97;97|282	ENSP00000006777:E238K|.	ENSP00000006777:E238K|ENSP00000407074:R282Q	E|R	+|+	1|2	0|0	RHBDD2|RHBDD2	75351077|75351077	1.000000|1.000000	0.71417|0.71417	0.682000|0.682000	0.30024|0.30024	0.019000|0.019000	0.09904|0.09904	6.022000|6.022000	0.70839|0.70839	2.630000|2.630000	0.89119|0.89119	0.650000|0.650000	0.86243|0.86243	GAG|CGA	RHBDD2	-	NULL	ENSG00000005486		0.463	RHBDD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHBDD2	HGNC	protein_coding	OTTHUMT00000344176.1	46	0.00	0	G	NM_020684		75513141	75513141	+1	no_errors	ENST00000006777	ensembl	human	known	69_37n	missense	89	21.24	24	SNP	0.993	A
RSPH4A	345895	genome.wustl.edu	37	6	116937994	116937994	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A8-A07E-01A-11W-A050-09	TCGA-A8-A07E-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fa018a20-2c26-4d47-831f-75280b6464df	305efad7-ff5c-4c4a-8f59-2f5fd43710ec	g.chr6:116937994delC	ENST00000229554.5	+	1	345	c.208delC	c.(208-210)cctfs	p.P70fs	RSPH4A_ENST00000368581.4_Frame_Shift_Del_p.P70fs|RSPH4A_ENST00000368580.4_Frame_Shift_Del_p.P70fs	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A (Chlamydomonas)	70					axoneme assembly (GO:0035082)|cilium movement (GO:0003341)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|radial spoke (GO:0001534)				breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						AGCCAAGACGCCTCTGGGTGG	0.652									Kartagener syndrome																													dbGAP											0													30.0	38.0	35.0					6																	116937994		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome		CCDS34521.1, CCDS55051.1	6q22.1	2012-05-03	2009-02-17	2009-02-17	ENSG00000111834	ENSG00000111834			21558	protein-coding gene	gene with protein product		612647	"""radial spokehead-like 3"""	RSHL3		19200523	Standard	NM_001010892		Approved	dJ412I7.1, FLJ37974, RSPH6B, CILD11	uc003pxe.2	Q5TD94	OTTHUMG00000015444	ENST00000229554.5:c.208delC	6.37:g.116937994delC	ENSP00000229554:p.Pro70fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DSI1|Q3KP24|Q5TD95	Frame_Shift_Del	DEL	pfam_Radial_spoke	p.P70fs	ENST00000229554.5	37	c.208	CCDS34521.1	6																																																																																			RSPH4A	-	NULL	ENSG00000111834		0.652	RSPH4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RSPH4A	HGNC	protein_coding	OTTHUMT00000041960.1	70	0.00	0	C	NM_001010892		116937994	116937994	+1	no_errors	ENST00000229554	ensembl	human	known	69_37n	frame_shift_del	135	32.67	66	DEL	0.000	-
SBNO2	22904	genome.wustl.edu	37	19	1119121	1119121	+	Frame_Shift_Del	DEL	G	G	-	rs370834213		TCGA-A8-A07E-01A-11W-A050-09	TCGA-A8-A07E-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fa018a20-2c26-4d47-831f-75280b6464df	305efad7-ff5c-4c4a-8f59-2f5fd43710ec	g.chr19:1119121delG	ENST00000361757.3	-	14	1653	c.1416delC	c.(1414-1416)gtcfs	p.V472fs	SBNO2_ENST00000438103.2_Frame_Shift_Del_p.V415fs|SBNO2_ENST00000587024.1_Frame_Shift_Del_p.V472fs	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	472					bone mineralization (GO:0030282)|bone trabecula morphogenesis (GO:0061430)|macrophage activation involved in immune response (GO:0002281)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoclast fusion (GO:0072675)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of inflammatory response (GO:0050727)|transcription, DNA-templated (GO:0006351)					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACATGCCGCTGACCTTCATGT	0.662																																						dbGAP											0													34.0	42.0	39.0					19																	1119121		2196	4288	6484	-	-	-	SO:0001589	frameshift_variant	0			AK074102	CCDS45894.1, CCDS45895.1	19p13.3	2008-02-05	2006-10-06	2006-10-06		ENSG00000064932			29158	protein-coding gene	gene with protein product		615729	"""KIAA0963"""	KIAA0963		10231032	Standard	NM_014963		Approved	FLJ00173, Stno, Sno	uc002lrk.4	Q9Y2G9		ENST00000361757.3:c.1416delC	19.37:g.1119121delG	ENSP00000354733:p.Val472fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8P2|B3KWJ1|O75257|Q3KQX0|Q8TEM0	Frame_Shift_Del	DEL	NULL	p.S473fs	ENST00000361757.3	37	c.1416	CCDS45894.1	19																																																																																			SBNO2	-	NULL	ENSG00000064932		0.662	SBNO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SBNO2	HGNC	protein_coding	OTTHUMT00000458065.2	17	0.00	0	G	NM_014963		1119121	1119121	-1	no_errors	ENST00000361757	ensembl	human	known	69_37n	frame_shift_del	12	66.67	28	DEL	1.000	-
SIX4	51804	genome.wustl.edu	37	14	61186564	61186564	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A07E-01A-11W-A050-09	TCGA-A8-A07E-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fa018a20-2c26-4d47-831f-75280b6464df	305efad7-ff5c-4c4a-8f59-2f5fd43710ec	g.chr14:61186564T>C	ENST00000216513.4	-	2	1522	c.1463A>G	c.(1462-1464)aAt>aGt	p.N488S		NM_017420.4	NP_059116.3	Q9UIU6	SIX4_HUMAN	SIX homeobox 4	488					anatomical structure morphogenesis (GO:0009653)|embryonic cranial skeleton morphogenesis (GO:0048701)|generation of neurons (GO:0048699)|inner ear morphogenesis (GO:0042472)|metanephric mesenchyme development (GO:0072075)|myoblast migration (GO:0051451)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of ureteric bud formation (GO:0072107)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of protein localization (GO:0032880)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|skeletal muscle tissue development (GO:0007519)|thymus development (GO:0048538)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				OV - Ovarian serous cystadenocarcinoma(108;0.0275)		TGCTCCGGAATTGGGGATCTG	0.483																																						dbGAP											0													128.0	129.0	129.0					14																	61186564		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB024687	CCDS9749.2	14q23.1	2012-10-02	2007-07-13		ENSG00000100625	ENSG00000100625		"""Homeoboxes / SINE class"""	10890	protein-coding gene	gene with protein product		606342	"""sine oculis homeobox (Drosophila) homolog 4"", ""sine oculis homeobox homolog 4 (Drosophila)"""			10512683, 10640827	Standard	NM_017420		Approved	AREC3	uc001xfc.3	Q9UIU6	OTTHUMG00000028996	ENST00000216513.4:c.1463A>G	14.37:g.61186564T>C	ENSP00000216513:p.Asn488Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4QQH5|Q4V764	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.N488S	ENST00000216513.4	37	c.1463	CCDS9749.2	14	.	.	.	.	.	.	.	.	.	.	T	13.49	2.252943	0.39797	.	.	ENSG00000100625	ENST00000216513;ENST00000554079;ENST00000556952	D;T	0.89681	-2.55;1.06	5.63	3.31	0.37934	.	0.051051	0.85682	D	0.000000	T	0.76905	0.4053	N	0.14661	0.345	0.37019	D	0.896093	B;B	0.33022	0.394;0.274	B;B	0.30782	0.12;0.056	T	0.74662	-0.3590	10	0.30078	T	0.28	.	9.5214	0.39138	0.0:0.1417:0.0:0.8583	.	480;488	G3V2N2;Q9UIU6	.;SIX4_HUMAN	S	488;161;480	ENSP00000216513:N488S;ENSP00000451537:N161S	ENSP00000216513:N488S	N	-	2	0	SIX4	60256317	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	2.387000	0.44389	0.983000	0.38602	0.533000	0.62120	AAT	SIX4	-	NULL	ENSG00000100625		0.483	SIX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIX4	HGNC	protein_coding	OTTHUMT00000072397.2	88	0.00	0	T			61186564	61186564	-1	no_errors	ENST00000216513	ensembl	human	known	69_37n	missense	94	25.20	32	SNP	1.000	C
SLC4A5	57835	genome.wustl.edu	37	2	74452069	74452069	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A07E-01A-11W-A050-09	TCGA-A8-A07E-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fa018a20-2c26-4d47-831f-75280b6464df	305efad7-ff5c-4c4a-8f59-2f5fd43710ec	g.chr2:74452069G>T	ENST00000377634.4	-	29	3591	c.3192C>A	c.(3190-3192)caC>caA	p.H1064Q	RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000358683.4_Missense_Mutation_p.H946Q|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000423644.1_Silent_p.R989R|SLC4A5_ENST00000346834.4_Missense_Mutation_p.H967Q|SLC4A5_ENST00000377632.1_Missense_Mutation_p.H967Q|SLC4A5_ENST00000394019.2_Missense_Mutation_p.H1048Q|SLC4A5_ENST00000357822.5_Missense_Mutation_p.H1064Q|SLC4A5_ENST00000359484.4_Missense_Mutation_p.H946Q					solute carrier family 4 (sodium bicarbonate cotransporter), member 5											breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						AGGCCAGGTCGTGCTGGGAAA	0.478																																						dbGAP											0													103.0	104.0	104.0					2																	74452069		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF243499	CCDS1936.1, CCDS1937.1	2p13.1	2013-07-19	2013-07-19		ENSG00000188687	ENSG00000188687		"""Solute carriers"""	18168	protein-coding gene	gene with protein product		606757	"""solute carrier family 4, sodium bicarbonate cotransporter, member 5"""			10978526, 11087115	Standard	NM_133478		Approved	NBC4	uc002sko.1	Q9BY07	OTTHUMG00000090263	ENST00000377634.4:c.3192C>A	2.37:g.74452069G>T	ENSP00000366861:p.His1064Gln	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk	p.H1064Q	ENST00000377634.4	37	c.3192	CCDS1936.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.736|9.736	1.163524|1.163524	0.21538|0.21538	.|.	.|.	ENSG00000188687|ENSG00000188687	ENST00000394019;ENST00000451608;ENST00000346834;ENST00000359484;ENST00000358683;ENST00000357822;ENST00000377632;ENST00000377634|ENST00000425249	T;T;T;T;T;T;T|T	0.69306|0.66995	-0.39;-0.39;-0.39;-0.39;-0.39;-0.39;-0.39|-0.24	4.98|4.98	-4.02|-4.02	0.04034|0.04034	.|.	0.097457|.	0.64402|.	D|.	0.000001|.	T|T	0.44993|0.44993	0.1320|0.1320	L|L	0.33293|0.33293	1|1	0.80722|0.80722	D|D	1|1	D;P;D;P|B	0.89917|0.32203	1.0;0.934;1.0;0.639|0.36	D;P;D;P|B	0.87578|0.28465	0.997;0.749;0.998;0.493|0.09	T|T	0.42649|0.42649	-0.9439|-0.9439	10|9	0.31617|0.07030	T|T	0.26|0.85	.|.	11.9839|11.9839	0.53135|0.53135	0.4459:0.0:0.5541:0.0|0.4459:0.0:0.5541:0.0	.|.	967;946;1064;1048|956	Q9BY07-4;Q9BY07-7;Q9BY07;Q9BY07-3|E7EQT3	.;.;S4A5_HUMAN;.|.	Q|K	1048;1069;967;946;946;1064;967;1064|956	ENSP00000377587:H1048Q;ENSP00000251768:H967Q;ENSP00000352461:H946Q;ENSP00000351513:H946Q;ENSP00000350475:H1064Q;ENSP00000366859:H967Q;ENSP00000366861:H1064Q|ENSP00000405678:T956K	ENSP00000251768:H967Q|ENSP00000405678:T956K	H|T	-|-	3|2	2|0	SLC4A5|SLC4A5	74305577|74305577	0.802000|0.802000	0.28943|0.28943	0.945000|0.945000	0.38365|0.38365	0.595000|0.595000	0.36748|0.36748	-0.077000|-0.077000	0.11394|0.11394	-0.912000|-0.912000	0.03837|0.03837	-0.888000|-0.888000	0.02935|0.02935	CAC|ACG	SLC4A5	-	tigrfam_HCO3_transpt_euk	ENSG00000188687		0.478	SLC4A5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC4A5	HGNC	protein_coding	OTTHUMT00000206583.3	188	0.00	0	G			74452069	74452069	-1	no_errors	ENST00000357822	ensembl	human	known	69_37n	missense	234	27.78	90	SNP	0.986	T
SPDYE3	441272	genome.wustl.edu	37	7	99912241	99912241	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A07E-01A-11W-A050-09	TCGA-A8-A07E-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fa018a20-2c26-4d47-831f-75280b6464df	305efad7-ff5c-4c4a-8f59-2f5fd43710ec	g.chr7:99912241G>A	ENST00000332397.6	+	6	1253	c.1069G>A	c.(1069-1071)Gag>Aag	p.E357K	SPDYE3_ENST00000437326.2_5'UTR	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN	speedy/RINGO cell cycle regulator family member E3	357										endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						TGATGAGCCAGAGAAGGAGCT	0.607																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			BC056606	CCDS47658.1, CCDS47658.2	7q22.1	2013-05-08	2013-05-08		ENSG00000214300	ENSG00000214300		"""Speedy homologs"""	35462	protein-coding gene	gene with protein product			"""speedy homolog E3 (Xenopus laevis)"""				Standard	NM_001004351		Approved		uc022aij.1	A6NKU9	OTTHUMG00000155462	ENST00000332397.6:c.1069G>A	7.37:g.99912241G>A	ENSP00000329565:p.Glu357Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q495Y9|Q6PHC4	Missense_Mutation	SNP	pfam_Cell_cycle_regulatory_Spy1	p.E357K	ENST00000332397.6	37	c.1069	CCDS47658.2	7	.	.	.	.	.	.	.	.	.	.	G	5.803	0.332457	0.10956	.	.	ENSG00000214300	ENST00000332397	.	.	.	.	.	.	.	1.612970	0.03877	N	0.276629	T	0.36963	0.0986	L	0.39898	1.24	0.09310	N	0.999992	.	.	.	.	.	.	T	0.32613	-0.9900	5	0.27082	T	0.32	.	.	.	.	.	.	.	.	K	357	.	ENSP00000329565:E357K	E	+	1	0	SPDYE3	99750177	0.999000	0.42202	0.053000	0.19242	0.049000	0.14656	0.748000	0.26305	0.511000	0.28236	0.154000	0.16183	GAG	SPDYE3	-	NULL	ENSG00000214300		0.607	SPDYE3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPDYE3	HGNC	protein_coding	OTTHUMT00000340224.2	382	0.00	0	G	NM_001004351		99912241	99912241	+1	no_errors	ENST00000332397	ensembl	human	known	69_37n	missense	395	28.18	155	SNP	0.061	A
STAB1	23166	genome.wustl.edu	37	3	52543929	52543930	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A8-A07E-01A-11W-A050-09	TCGA-A8-A07E-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fa018a20-2c26-4d47-831f-75280b6464df	305efad7-ff5c-4c4a-8f59-2f5fd43710ec	g.chr3:52543929_52543930insG	ENST00000321725.6	+	23	2467_2468	c.2391_2392insG	c.(2392-2394)gggfs	p.G798fs		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	798					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GCCCAGGCAGTGGGGGGGTGTG	0.653																																						dbGAP											0										6,4254		0,6,2124						-0.2	1.0			38	13,8231		0,13,4109	no	frameshift	STAB1	NM_015136.2		0,19,6233	A1A1,A1R,RR		0.1577,0.1408,0.152				19,12485				-	-	-	SO:0001589	frameshift_variant	0			AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"""MS-1 antigen"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1"", ""common lymphatic endothelial and vascular endothelial receptor-1"""	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.2398dupG	3.37:g.52543936_52543936dupG	ENSP00000312946:p.Gly798fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A7E297|Q8IUH0|Q8IUH1|Q93072	Frame_Shift_Ins	INS	pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,smart_EGF-like,smart_EGF_laminin,smart_FAS1_domain,smart_EGF-like_Ca-bd,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link	p.V799fs	ENST00000321725.6	37	c.2391_2392	CCDS33768.1	3																																																																																			STAB1	-	smart_EGF-like	ENSG00000010327		0.653	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAB1	HGNC	protein_coding	OTTHUMT00000351380.2	11	0.00	0	-	NM_015136		52543929	52543930	+1	no_errors	ENST00000321725	ensembl	human	known	69_37n	frame_shift_ins	8	20.00	2	INS	0.997:0.999	G
TLN1	7094	genome.wustl.edu	37	9	35706019	35706019	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A8-A07E-01A-11W-A050-09	TCGA-A8-A07E-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fa018a20-2c26-4d47-831f-75280b6464df	305efad7-ff5c-4c4a-8f59-2f5fd43710ec	g.chr9:35706019delT	ENST00000314888.9	-	41	5804	c.5451delA	c.(5449-5451)gcafs	p.A1818fs	TLN1_ENST00000464379.1_Intron|TLN1_ENST00000540444.1_Intron	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	1818	Interaction with SYNM.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CAGCACTGGCTGCCTCGTTGA	0.607																																						dbGAP											0													92.0	92.0	92.0					9																	35706019		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.5451delA	9.37:g.35706019delT	ENSP00000316029:p.Ala1818fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Frame_Shift_Del	DEL	pfam_Talin_cent,pfam_Vinculin-bd_dom,pfam_ILWEQ,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ,pfscan_FERM_domain,pfscan_ILWEQ	p.A1818fs	ENST00000314888.9	37	c.5451	CCDS35009.1	9																																																																																			TLN1	-	superfamily_Vinculin/catenin	ENSG00000137076		0.607	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLN1	HGNC	protein_coding	OTTHUMT00000052353.2	127	0.00	0	T	NM_006289		35706019	35706019	-1	no_errors	ENST00000314888	ensembl	human	known	69_37n	frame_shift_del	191	47.86	179	DEL	0.886	-
TMC4	147798	genome.wustl.edu	37	19	54665951	54665951	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A07E-01A-11W-A050-09	TCGA-A8-A07E-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fa018a20-2c26-4d47-831f-75280b6464df	305efad7-ff5c-4c4a-8f59-2f5fd43710ec	g.chr19:54665951C>T	ENST00000376591.4	-	11	1722	c.1591G>A	c.(1591-1593)Gag>Aag	p.E531K	LENG1_ENST00000222224.3_5'Flank|TMC4_ENST00000301187.4_Missense_Mutation_p.E525K|TMC4_ENST00000476013.2_5'Flank|TMC4_ENST00000416963.1_Missense_Mutation_p.E113K	NM_001145303.1|NM_144686.2	NP_001138775|NP_653287.2	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	531					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.E113K(1)|p.E525K(1)		breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CCCAGCACCTCGTCGGGCACC	0.652																																						dbGAP											2	Substitution - Missense(2)	lung(2)											37.0	40.0	39.0					19																	54665951		2202	4299	6501	-	-	-	SO:0001583	missense	0			AY236492	CCDS12882.1, CCDS46174.1	19q13.42	2008-02-05			ENSG00000167608	ENSG00000167608			22998	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005277069		Approved		uc010erf.3	Q7Z404	OTTHUMG00000066485	ENST00000376591.4:c.1591G>A	19.37:g.54665951C>T	ENSP00000365776:p.Glu531Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q7Z5M3|Q8N5E4|Q8TBS7	Missense_Mutation	SNP	pfam_TMC	p.E525K	ENST00000376591.4	37	c.1573	CCDS46174.1	19	.	.	.	.	.	.	.	.	.	.	C	19.92	3.915701	0.73098	.	.	ENSG00000167608	ENST00000301187;ENST00000416963;ENST00000376591	T;T;T	0.63580	-0.05;-0.05;-0.05	4.9	4.9	0.64082	.	0.101661	0.64402	D	0.000003	T	0.70666	0.3250	L	0.54323	1.7	0.39117	D	0.961584	D;P;D	0.76494	0.999;0.763;0.987	D;B;P	0.64410	0.925;0.269;0.725	T	0.74426	-0.3669	10	0.72032	D	0.01	-25.2201	9.7116	0.40249	0.0:0.903:0.0:0.097	.	531;525;113	Q7Z404;Q7Z404-1;Q7Z404-3	TMC4_HUMAN;.;.	K	525;113;531	ENSP00000301187:E525K;ENSP00000405023:E113K;ENSP00000365776:E531K	ENSP00000301187:E525K	E	-	1	0	TMC4	59357763	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	4.072000	0.57563	2.463000	0.83235	0.556000	0.70494	GAG	TMC4	-	pfam_TMC	ENSG00000167608		0.652	TMC4-011	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	TMC4	HGNC	protein_coding	OTTHUMT00000156164.2	61	0.00	0	C			54665951	54665951	-1	no_errors	ENST00000301187	ensembl	human	known	69_37n	missense	65	15.58	12	SNP	0.990	T
TOPBP1	11073	genome.wustl.edu	37	3	133327397	133327397	+	Silent	SNP	A	A	G			TCGA-A8-A07E-01A-11W-A050-09	TCGA-A8-A07E-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fa018a20-2c26-4d47-831f-75280b6464df	305efad7-ff5c-4c4a-8f59-2f5fd43710ec	g.chr3:133327397A>G	ENST00000260810.5	-	27	4538	c.4407T>C	c.(4405-4407)atT>atC	p.I1469I		NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	1469	BRCT 8. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cellular response to DNA damage stimulus (GO:0006974)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|response to ionizing radiation (GO:0010212)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						GATAATCAGCAATGTATTCTG	0.388								Other conserved DNA damage response genes																													Ovarian(21;193 658 4424 15423 17362)	dbGAP											0													144.0	136.0	139.0					3																	133327397		1909	4129	6038	-	-	-	SO:0001819	synonymous_variant	0			AB019397	CCDS46919.1	3q22.1	2004-06-21			ENSG00000163781	ENSG00000163781			17008	protein-coding gene	gene with protein product		607760				9461304, 9039502	Standard	NM_007027		Approved	KIAA0259, TOP2BP1	uc003eps.3	Q92547	OTTHUMG00000159773	ENST00000260810.5:c.4407T>C	3.37:g.133327397A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z7W8|Q7LGC1|Q9UEB9	Silent	SNP	pfam_BRCT_dom,superfamily_BRCT_dom,superfamily_Secretoglobin,smart_BRCT_dom,pfscan_BRCT_dom	p.I1469	ENST00000260810.5	37	c.4407	CCDS46919.1	3																																																																																			TOPBP1	-	superfamily_BRCT_dom	ENSG00000163781		0.388	TOPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOPBP1	HGNC	protein_coding	OTTHUMT00000357254.1	79	0.00	0	A	NM_007027		133327397	133327397	-1	no_errors	ENST00000260810	ensembl	human	known	69_37n	silent	84	14.29	14	SNP	0.986	G
TTC32	130502	genome.wustl.edu	37	2	20101597	20101597	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A07E-01A-11W-A050-09	TCGA-A8-A07E-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fa018a20-2c26-4d47-831f-75280b6464df	305efad7-ff5c-4c4a-8f59-2f5fd43710ec	g.chr2:20101597C>T	ENST00000333610.3	-	1	150	c.19G>A	c.(19-21)Gaa>Aaa	p.E7K	TTC32_ENST00000402414.1_Missense_Mutation_p.E7K|RP11-79O8.1_ENST00000607190.1_lincRNA	NM_001008237.1	NP_001008238.1	Q5I0X7	TTC32_HUMAN	tetratricopeptide repeat domain 32	7										kidney(2)|large_intestine(1)|lung(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCGTGGCTTTCTTGCCGCTGT	0.572																																						dbGAP											0													174.0	158.0	164.0					2																	20101597		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC057850	CCDS33151.1	2p24.1	2013-01-10			ENSG00000183891	ENSG00000183891		"""Tetratricopeptide (TTC) repeat domain containing"""	32954	protein-coding gene	gene with protein product							Standard	NM_001008237		Approved		uc002rdg.3	Q5I0X7	OTTHUMG00000151776	ENST00000333610.3:c.19G>A	2.37:g.20101597C>T	ENSP00000333018:p.Glu7Lys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_TPR-1,pfam_TPR_2,pfam_TPR-4,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E7K	ENST00000333610.3	37	c.19	CCDS33151.1	2	.	.	.	.	.	.	.	.	.	.	C	11.78	1.741834	0.30865	.	.	ENSG00000183891	ENST00000402414;ENST00000333610	T;T	0.63417	-0.04;1.19	5.19	2.22	0.28083	Tetratricopeptide-like helical (1);	1.401140	0.04250	N	0.338553	T	0.45418	0.1341	N	0.19112	0.55	0.09310	N	1	B	0.13594	0.008	B	0.14578	0.011	T	0.22382	-1.0218	10	0.05959	T	0.93	-33.7526	9.7559	0.40502	0.0:0.617:0.3017:0.0813	.	7	Q5I0X7	TTC32_HUMAN	K	7	ENSP00000385708:E7K;ENSP00000333018:E7K	ENSP00000333018:E7K	E	-	1	0	TTC32	19965078	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	0.282000	0.18829	0.318000	0.23185	-0.797000	0.03246	GAA	TTC32	-	NULL	ENSG00000183891		0.572	TTC32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC32	HGNC	protein_coding	OTTHUMT00000323868.1	74	0.00	0	C	NM_001008237		20101597	20101597	-1	no_errors	ENST00000333610	ensembl	human	known	69_37n	missense	82	29.91	35	SNP	0.000	T
TXNDC12	51060	genome.wustl.edu	37	1	52494264	52494264	+	Missense_Mutation	SNP	C	C	T	rs563414797		TCGA-A8-A07E-01A-11W-A050-09	TCGA-A8-A07E-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fa018a20-2c26-4d47-831f-75280b6464df	305efad7-ff5c-4c4a-8f59-2f5fd43710ec	g.chr1:52494264C>T	ENST00000371626.4	-	3	1271	c.197G>A	c.(196-198)tGt>tAt	p.C66Y		NM_015913.3	NP_056997.1	O95881	TXD12_HUMAN	thioredoxin domain containing 12 (endoplasmic reticulum)	66					cell redox homeostasis (GO:0045454)	endoplasmic reticulum (GO:0005783)	protein-disulfide reductase (glutathione) activity (GO:0019153)			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7					Glutathione(DB00143)	GCAAGCTCCACACCAGGATTT	0.323													C|||	1	0.000199681	0.0	0.0	5008	,	,		17782	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													89.0	87.0	88.0					1																	52494264		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF131758	CCDS561.1	1p32.3	2011-10-19			ENSG00000117862	ENSG00000117862		"""Protein disulfide isomerases"""	24626	protein-coding gene	gene with protein product	"""endoplasmic reticulum thioredoxin superfamily member, 18 kDa"", ""anterior gradient homolog 1 (Xenopus laevis)"", ""protein disulfide isomerase family A, member 16"""	609448				8619474, 9110174	Standard	NM_015913		Approved	TLP19, ERP18, ERP19, hAG-1, AGR1, PDIA16	uc001cti.4	O95881	OTTHUMG00000008629	ENST00000371626.4:c.197G>A	1.37:g.52494264C>T	ENSP00000360688:p.Cys66Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KQS0|Q5T1T4|Q96H50	Missense_Mutation	SNP	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold	p.C66Y	ENST00000371626.4	37	c.197	CCDS561.1	1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.265985	0.80358	.	.	ENSG00000117862	ENST00000371626	D	0.84589	-1.87	5.6	5.6	0.85130	Thioredoxin domain (1);Thioredoxin, conserved site (1);Thioredoxin-like fold (3);	0.000000	0.85682	D	0.000000	D	0.94532	0.8239	M	0.94101	3.495	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95564	0.8632	10	0.87932	D	0	.	17.7823	0.88527	0.0:1.0:0.0:0.0	.	66	O95881	TXD12_HUMAN	Y	66	ENSP00000360688:C66Y	ENSP00000360688:C66Y	C	-	2	0	TXNDC12	52266852	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.442000	0.73443	2.622000	0.88805	0.655000	0.94253	TGT	TXNDC12	-	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold	ENSG00000117862		0.323	TXNDC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TXNDC12	HGNC	protein_coding	OTTHUMT00000023818.1	90	0.00	0	C	NM_015913		52494264	52494264	-1	no_errors	ENST00000371626	ensembl	human	known	69_37n	missense	108	15.62	20	SNP	1.000	T
VWA7	80737	genome.wustl.edu	37	6	31741189	31741189	+	Silent	SNP	A	A	G			TCGA-A8-A07E-01A-11W-A050-09	TCGA-A8-A07E-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fa018a20-2c26-4d47-831f-75280b6464df	305efad7-ff5c-4c4a-8f59-2f5fd43710ec	g.chr6:31741189A>G	ENST00000375688.4	-	6	947	c.747T>C	c.(745-747)ttT>ttC	p.F249F	VWA7_ENST00000375686.3_Silent_p.F249F|VWA7_ENST00000447450.1_Silent_p.F249F|VWA7_ENST00000467576.1_Intron			Q9Y334	VWA7_HUMAN	von Willebrand factor A domain containing 7	249						extracellular region (GO:0005576)											TGCTCCGGTCAAAATGGCCCC	0.582																																						dbGAP											0													43.0	44.0	44.0					6																	31741189		2203	4298	6501	-	-	-	SO:0001819	synonymous_variant	0				CCDS4721.2	6p21	2011-12-13	2011-12-13	2011-12-13	ENSG00000204396	ENSG00000204396			13939	protein-coding gene	gene with protein product		609693	"""chromosome 6 open reading frame 27"""	C6orf27			Standard	NM_025258		Approved	G7c, NG37	uc011dog.2	Q9Y334	OTTHUMG00000031132	ENST00000375688.4:c.747T>C	6.37:g.31741189A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A2BEX8|A6NHR6|B0V041|Q5SSR5|Q96QC8|Q9UMP9	Silent	SNP	NULL	p.F249	ENST00000375688.4	37	c.747	CCDS4721.2	6																																																																																			VWA7	-	NULL	ENSG00000204396		0.582	VWA7-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	VWA7	HGNC	protein_coding	OTTHUMT00000076233.2	101	0.00	0	A	NM_025258		31741189	31741189	-1	no_errors	ENST00000375686	ensembl	human	known	69_37n	silent	104	11.11	13	SNP	0.989	G
XPA	7507	genome.wustl.edu	37	9	100449457	100449457	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A07E-01A-11W-A050-09	TCGA-A8-A07E-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fa018a20-2c26-4d47-831f-75280b6464df	305efad7-ff5c-4c4a-8f59-2f5fd43710ec	g.chr9:100449457T>G	ENST00000375128.4	-	4	540	c.476A>C	c.(475-477)gAg>gCg	p.E159A		NM_000380.3	NP_000371.1	P23025	XPA_HUMAN	xeroderma pigmentosum, complementation group A	159					DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|response to oxidative stress (GO:0006979)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercellular bridge (GO:0045171)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(4)|large_intestine(1)|lung(4)|prostate(1)	11		Acute lymphoblastic leukemia(62;0.158)				AAGAGGTGGCTCTCTTTTTTC	0.323			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													dbGAP	yes	Rec		Xeroderma pigmentosum (A)	9	9q22.3	7507	"""xeroderma pigmentosum, complementation group A"""		E	0													113.0	116.0	115.0					9																	100449457		2203	4298	6501	-	-	-	SO:0001583	missense	0	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	D14533	CCDS6729.1	9q22.3	2014-09-17			ENSG00000136936	ENSG00000136936			12814	protein-coding gene	gene with protein product		611153					Standard	NM_000380		Approved	XPAC, XP1	uc004axr.4	P23025	OTTHUMG00000020330	ENST00000375128.4:c.476A>C	9.37:g.100449457T>G	ENSP00000364270:p.Glu159Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T1U9|Q6LCW7|Q6LD02	Missense_Mutation	SNP	pfam_XPA_C,pfam_Znf_XPA_CS,superfamily_DNA-bd_dom_put,tigrfam_XPA	p.E159A	ENST00000375128.4	37	c.476	CCDS6729.1	9	.	.	.	.	.	.	.	.	.	.	T	22.3	4.278208	0.80692	.	.	ENSG00000136936	ENST00000375128	T	0.64991	-0.13	5.34	5.34	0.76211	DNA binding domain, putative (1);XPA C- terminal (1);	0.184523	0.56097	D	0.000022	T	0.76751	0.4031	M	0.69523	2.12	0.80722	D	1	D	0.53745	0.962	D	0.68353	0.957	T	0.79468	-0.1791	10	0.87932	D	0	.	13.1505	0.59486	0.0:0.0:0.0:1.0	.	159	P23025	XPA_HUMAN	A	159	ENSP00000364270:E159A	ENSP00000364270:E159A	E	-	2	0	XPA	99489278	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.652000	0.83633	2.165000	0.68154	0.533000	0.62120	GAG	XPA	-	pfam_XPA_C,superfamily_DNA-bd_dom_put,tigrfam_XPA	ENSG00000136936		0.323	XPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPA	HGNC	protein_coding	OTTHUMT00000053332.1	129	0.00	0	T	NM_000380		100449457	100449457	-1	no_errors	ENST00000375128	ensembl	human	known	69_37n	missense	198	10.00	22	SNP	1.000	G
ZNF534	147658	genome.wustl.edu	37	19	52942200	52942200	+	Missense_Mutation	SNP	G	G	A	rs540005939	byFrequency	TCGA-A8-A07E-01A-11W-A050-09	TCGA-A8-A07E-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fa018a20-2c26-4d47-831f-75280b6464df	305efad7-ff5c-4c4a-8f59-2f5fd43710ec	g.chr19:52942200G>A	ENST00000332323.6	+	4	1587	c.1526G>A	c.(1525-1527)tGt>tAt	p.C509Y	ZNF534_ENST00000432303.2_Intron|ZNF534_ENST00000301085.4_Intron|ZNF534_ENST00000433050.1_Missense_Mutation_p.C496Y	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN	zinc finger protein 534	509					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						CTTTACAAATGTAATGAATGT	0.403																																						dbGAP											0													43.0	40.0	41.0					19																	52942200		692	1591	2283	-	-	-	SO:0001583	missense	0			AK058073	CCDS46165.1, CCDS46166.1	19q13.41	2013-01-08	2004-02-06	2004-02-11	ENSG00000198633	ENSG00000198633		"""Zinc fingers, C2H2-type"", ""-"""	26337	protein-coding gene	gene with protein product			"""KRAB domain only 3"""	KRBO3			Standard	NM_001143938		Approved	FLJ25344	uc002pzk.3	Q76KX8	OTTHUMG00000156493	ENST00000332323.6:c.1526G>A	19.37:g.52942200G>A	ENSP00000327538:p.Cys509Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q76KX9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.C509Y	ENST00000332323.6	37	c.1526	CCDS46165.1	19	.	.	.	.	.	.	.	.	.	.	G	11.49	1.653047	0.29336	.	.	ENSG00000198633	ENST00000332323;ENST00000433050;ENST00000391790	D;D	0.85088	-1.94;-1.94	1.73	0.642	0.17765	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.93106	0.7805	H	0.95328	3.655	0.32205	N	0.577307	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	D	0.90051	0.4149	9	0.66056	D	0.02	.	7.3975	0.26944	0.1712:0.0:0.8288:0.0	.	496;509	Q76KX8-2;Q76KX8	.;ZN534_HUMAN	Y	509;496;508	ENSP00000327538:C509Y;ENSP00000391358:C496Y	ENSP00000327538:C509Y	C	+	2	0	ZNF534	57634012	0.687000	0.27671	0.032000	0.17829	0.062000	0.15995	2.535000	0.45685	0.927000	0.37143	0.390000	0.25778	TGT	ZNF534	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198633		0.403	ZNF534-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF534	HGNC	protein_coding	OTTHUMT00000460877.1	109	0.00	0	G	NM_182512		52942200	52942200	+1	no_errors	ENST00000332323	ensembl	human	known	69_37n	missense	296	12.17	41	SNP	0.073	A
ZNF580	51157	genome.wustl.edu	37	19	56153940	56153941	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A8-A07E-01A-11W-A050-09	TCGA-A8-A07E-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fa018a20-2c26-4d47-831f-75280b6464df	305efad7-ff5c-4c4a-8f59-2f5fd43710ec	g.chr19:56153940_56153941insC	ENST00000543039.1	+	1	523_524	c.66_67insC	c.(67-69)cccfs	p.P23fs	ZNF581_ENST00000270451.5_5'Flank|ZNF581_ENST00000587252.1_Intron|ZNF580_ENST00000545125.1_Frame_Shift_Ins_p.P23fs|ZNF581_ENST00000588537.1_5'Flank|ZNF580_ENST00000325333.5_Frame_Shift_Ins_p.P23fs	NM_016202.2	NP_057286.1	Q9UK33	ZN580_HUMAN	zinc finger protein 580	23	Pro-rich.				cellular response to hydrogen peroxide (GO:0070301)|chemotaxis (GO:0006935)|inflammatory response (GO:0006954)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukocyte chemotaxis (GO:0002690)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			lung(1)|upper_aerodigestive_tract(1)	2			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		TGGACCCACCGCCCCCCAAGGC	0.748																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF184939	CCDS12931.1	19q13.42	2013-09-20			ENSG00000213015	ENSG00000213015		"""Zinc fingers, C2H2-type"""	29473	protein-coding gene	gene with protein product						12477932	Standard	NM_001163423		Approved		uc002qlo.3	Q9UK33	OTTHUMG00000180868	ENST00000543039.1:c.72dupC	19.37:g.56153946_56153946dupC	ENSP00000443957:p.Pro23fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RC05|Q9NPP7	Frame_Shift_Ins	INS	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.K24fs	ENST00000543039.1	37	c.66_67	CCDS12931.1	19																																																																																			ZNF580	-	NULL	ENSG00000213015		0.748	ZNF580-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF580	HGNC	protein_coding	OTTHUMT00000453428.1	19	0.00	0	-	NM_016202		56153940	56153941	+1	no_errors	ENST00000325333	ensembl	human	known	69_37n	frame_shift_ins	3	40.00	2	INS	1.000:1.000	C
