#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ADAM12	8038	genome.wustl.edu	37	10	127734625	127734625	+	Splice_Site	SNP	C	C	T			TCGA-D8-A1XG-01A-11D-A14G-09	TCGA-D8-A1XG-10A-01D-A14G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	800ff536-a1d2-4213-b85e-7780851c6378	8e1c27de-7792-4b53-9e53-7da87ef325f7	g.chr10:127734625C>T	ENST00000368679.4	-	17	2312	c.2003G>A	c.(2002-2004)gGg>gAg	p.G668E	ADAM12_ENST00000368676.4_Splice_Site_p.G668E	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	668	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell adhesion (GO:0007155)|epidermal growth factor receptor signaling pathway (GO:0007173)|myoblast fusion (GO:0007520)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)	p.G668A(2)		biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		CCTACTCACCCCTCTGCCGTG	0.423																																						dbGAP											2	Substitution - Missense(2)	breast(2)											109.0	98.0	102.0					10																	127734625		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF023476	CCDS7653.1, CCDS7654.1	10q26	2008-07-29	2008-07-29		ENSG00000148848	ENSG00000148848		"""ADAM metallopeptidase domain containing"""	190	protein-coding gene	gene with protein product	"""meltrin alpha"""	602714	"""a disintegrin and metalloproteinase domain 12 (meltrin alpha)"""			9417060, 18342566	Standard	NM_003474		Approved	MCMPMltna, MLTN	uc001ljk.2	O43184	OTTHUMG00000019243	ENST00000368679.4:c.2004+1G>A	10.37:g.127734625C>T			O60470|Q5JRP0|Q5JRP1|Q6P9E3|Q6UWB0	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,prints_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B	p.G668E	ENST00000368679.4	37	c.2003	CCDS7653.1	10	.	.	.	.	.	.	.	.	.	.	C	19.33	3.807647	0.70797	.	.	ENSG00000148848	ENST00000368679;ENST00000368676	D;D	0.97232	-4.3;-4.3	5.35	5.35	0.76521	Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99089	0.9687	H	0.96748	3.875	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.99139	1.0855	10	0.87932	D	0	.	19.254	0.93938	0.0:1.0:0.0:0.0	.	665;665;668;665;668	A8K6G4;O43184-3;O43184-2;O43184-4;O43184	.;.;.;.;ADA12_HUMAN	E	668	ENSP00000357668:G668E;ENSP00000357665:G668E	ENSP00000357665:G668E	G	-	2	0	ADAM12	127724615	1.000000	0.71417	0.991000	0.47740	0.040000	0.13550	7.606000	0.82863	2.780000	0.95670	0.655000	0.94253	GGG	ADAM12	-	pfscan_EG-like_dom	ENSG00000148848		0.423	ADAM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM12	HGNC	protein_coding	OTTHUMT00000050961.1	59	0.00	0	C		Missense_Mutation	127734625	127734625	-1	no_errors	ENST00000368679	ensembl	human	known	69_37n	missense	48	36.00	27	SNP	1.000	T
AFAP1L1	134265	genome.wustl.edu	37	5	148709274	148709274	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XG-01A-11D-A14G-09	TCGA-D8-A1XG-10A-01D-A14G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	800ff536-a1d2-4213-b85e-7780851c6378	8e1c27de-7792-4b53-9e53-7da87ef325f7	g.chr5:148709274C>T	ENST00000296721.4	+	16	1954	c.1856C>T	c.(1855-1857)gCc>gTc	p.A619V	AFAP1L1_ENST00000515000.1_Missense_Mutation_p.A619V	NM_001146337.1|NM_152406.2	NP_001139809.1|NP_689619.1	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	619						cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGGAGGATGCCCGGAGGTAC	0.507																																						dbGAP											0													51.0	54.0	53.0					5																	148709274		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK094067	CCDS34274.1, CCDS54932.1	5q33.1	2013-01-10			ENSG00000157510	ENSG00000157510		"""Pleckstrin homology (PH) domain containing"""	26714	protein-coding gene	gene with protein product		614410					Standard	NM_152406		Approved	FLJ36748	uc003lqh.3	Q8TED9	OTTHUMG00000163441	ENST00000296721.4:c.1856C>T	5.37:g.148709274C>T	ENSP00000296721:p.Ala619Val		Q08AN4|Q08AN5|Q8IW82|Q8N8Z5|Q8N9Q4	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.A619V	ENST00000296721.4	37	c.1856	CCDS34274.1	5	.	.	.	.	.	.	.	.	.	.	C	25.4	4.632443	0.87660	.	.	ENSG00000157510	ENST00000296721;ENST00000515000	T;T	0.19394	2.15;2.15	5.93	5.93	0.95920	.	0.055504	0.64402	N	0.000001	T	0.41627	0.1167	L	0.41906	1.305	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.994	T	0.07158	-1.0787	10	0.62326	D	0.03	-26.5531	19.949	0.97192	0.0:1.0:0.0:0.0	.	619;619	Q8TED9-2;Q8TED9	.;AF1L1_HUMAN	V	619	ENSP00000296721:A619V;ENSP00000424427:A619V	ENSP00000296721:A619V	A	+	2	0	AFAP1L1	148689467	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.183000	0.77697	2.826000	0.97356	0.655000	0.94253	GCC	AFAP1L1	-	NULL	ENSG00000157510		0.507	AFAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AFAP1L1	HGNC	protein_coding	OTTHUMT00000373443.1	56	0.00	0	C	NM_152406		148709274	148709274	+1	no_errors	ENST00000296721	ensembl	human	known	69_37n	missense	38	38.71	24	SNP	1.000	T
ANGPTL2	23452	genome.wustl.edu	37	9	129870656	129870656	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XG-01A-11D-A14G-09	TCGA-D8-A1XG-10A-01D-A14G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	800ff536-a1d2-4213-b85e-7780851c6378	8e1c27de-7792-4b53-9e53-7da87ef325f7	g.chr9:129870656C>T	ENST00000373425.3	-	2	972	c.355G>A	c.(355-357)Gag>Aag	p.E119K	RALGPS1_ENST00000373434.1_Intron|ANGPTL2_ENST00000373417.1_Intron|RALGPS1_ENST00000373436.1_Intron|RALGPS1_ENST00000424082.2_Intron|RALGPS1_ENST00000394022.3_Intron|RALGPS1_ENST00000259351.5_Intron|ANGPTL2_ENST00000491991.1_5'Flank	NM_012098.2	NP_036230.1	Q9UKU9	ANGL2_HUMAN	angiopoietin-like 2	119					multicellular organismal development (GO:0007275)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1)	18						AGCTTCACCTCGCTCACAATG	0.602																																						dbGAP											0													37.0	33.0	35.0					9																	129870656		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF125175	CCDS6868.1	9q34	2013-02-06			ENSG00000136859	ENSG00000136859		"""Fibrinogen C domain containing"""	490	protein-coding gene	gene with protein product		605001				10473614	Standard	NM_012098		Approved	ARP2, HARP	uc004bqr.1	Q9UKU9	OTTHUMG00000020695	ENST00000373425.3:c.355G>A	9.37:g.129870656C>T	ENSP00000362524:p.Glu119Lys		Q5JT58|Q8NCH7	Missense_Mutation	SNP	pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C	p.E119K	ENST00000373425.3	37	c.355	CCDS6868.1	9	.	.	.	.	.	.	.	.	.	.	C	17.40	3.380387	0.61845	.	.	ENSG00000136859	ENST00000373425	T	0.38077	1.16	4.87	3.96	0.45880	.	0.057728	0.64402	D	0.000002	T	0.59878	0.2226	M	0.78049	2.395	0.80722	D	1	D	0.76494	0.999	D	0.70016	0.967	T	0.65751	-0.6092	10	0.72032	D	0.01	.	14.4479	0.67364	0.1484:0.8516:0.0:0.0	.	119	Q9UKU9	ANGL2_HUMAN	K	119	ENSP00000362524:E119K	ENSP00000362524:E119K	E	-	1	0	ANGPTL2	128910477	1.000000	0.71417	0.990000	0.47175	0.102000	0.19082	7.792000	0.85828	1.032000	0.39892	-0.182000	0.12963	GAG	ANGPTL2	-	NULL	ENSG00000136859		0.602	ANGPTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANGPTL2	HGNC	protein_coding	OTTHUMT00000054129.1	23	0.00	0	C	NM_012098		129870656	129870656	-1	no_errors	ENST00000373425	ensembl	human	known	69_37n	missense	9	35.71	5	SNP	1.000	T
ATP2B2	491	genome.wustl.edu	37	3	10370591	10370591	+	Silent	SNP	G	G	A			TCGA-D8-A1XG-01A-11D-A14G-09	TCGA-D8-A1XG-10A-01D-A14G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	800ff536-a1d2-4213-b85e-7780851c6378	8e1c27de-7792-4b53-9e53-7da87ef325f7	g.chr3:10370591G>A	ENST00000352432.4	-	22	3708	c.3639C>T	c.(3637-3639)atC>atT	p.I1213I	ATP2B2_ENST00000467702.2_5'UTR|MIR378B_ENST00000578876.1_RNA|ATP2B2_ENST00000397077.1_Silent_p.I1168I|ATP2B2_ENST00000343816.4_Silent_p.I1199I|ATP2B2_ENST00000383800.4_Silent_p.I1168I|ATP2B2_ENST00000360273.2_Silent_p.I1213I			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	1213					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						TCCCACTGTCGATGGCGCTGT	0.572																																					Ovarian(125;1619 1709 15675 19819 38835)	dbGAP											0													130.0	110.0	117.0					3																	10370591		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"""ATPases / P-type"""	815	protein-coding gene	gene with protein product	"""plasma membrane Ca2+ pump 2"", ""plasma membrane calcium-transporting ATPase 2"""	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.3639C>T	3.37:g.10370591G>A			O00766|Q12994|Q16818	Silent	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr	p.I1213	ENST00000352432.4	37	c.3639	CCDS33701.1	3																																																																																			ATP2B2	-	NULL	ENSG00000157087		0.572	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	ATP2B2	HGNC	protein_coding	OTTHUMT00000250576.2	131	0.00	0	G	NM_001683		10370591	10370591	-1	no_errors	ENST00000352432	ensembl	human	known	69_37n	silent	56	41.05	39	SNP	1.000	A
C3	718	genome.wustl.edu	37	19	6711025	6711025	+	Missense_Mutation	SNP	C	C	A	rs146594928		TCGA-D8-A1XG-01A-11D-A14G-09	TCGA-D8-A1XG-10A-01D-A14G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	800ff536-a1d2-4213-b85e-7780851c6378	8e1c27de-7792-4b53-9e53-7da87ef325f7	g.chr19:6711025C>A	ENST00000245907.6	-	12	1544	c.1452G>T	c.(1450-1452)gaG>gaT	p.E484D		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	484					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	GGATCTTGGCCTCGTGGGCGC	0.607																																						dbGAP											0													220.0	195.0	203.0					19																	6711025		2203	4300	6503	-	-	-	SO:0001583	missense	0			J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.1452G>T	19.37:g.6711025C>A	ENSP00000245907:p.Glu484Asp		A7E236	Missense_Mutation	SNP	pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_Netrin_module_non-TIMP,pfam_A2M_N_2,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain,prints_Anaphylatoxn	p.E484D	ENST00000245907.6	37	c.1452	CCDS32883.1	19	.	.	.	.	.	.	.	.	.	.	C	2.938	-0.219466	0.06061	.	.	ENSG00000125730	ENST00000245907	T	0.33216	1.42	5.03	-10.1	0.00402	Alpha-2-macroglobulin, N-terminal 2 (1);	1.550880	0.03506	N	0.218850	T	0.15392	0.0371	L	0.41236	1.265	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.22243	-1.0222	10	0.12430	T	0.62	.	0.8488	0.01167	0.3673:0.1816:0.2537:0.1975	.	484	P01024	CO3_HUMAN	D	484	ENSP00000245907:E484D	ENSP00000245907:E484D	E	-	3	2	C3	6662025	0.000000	0.05858	0.000000	0.03702	0.203000	0.24098	-4.018000	0.00312	-1.524000	0.01764	-0.310000	0.09108	GAG	C3	-	pfam_A2M_N_2	ENSG00000125730		0.607	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3	HGNC	protein_coding	OTTHUMT00000317636.2	110	0.00	0	C	NM_000064		6711025	6711025	-1	no_errors	ENST00000245907	ensembl	human	known	69_37n	missense	64	11.11	8	SNP	0.000	A
CRIPAK	285464	genome.wustl.edu	37	4	1388797	1388797	+	Frame_Shift_Del	DEL	C	C	-			TCGA-D8-A1XG-01A-11D-A14G-09	TCGA-D8-A1XG-10A-01D-A14G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	800ff536-a1d2-4213-b85e-7780851c6378	8e1c27de-7792-4b53-9e53-7da87ef325f7	g.chr4:1388797delC	ENST00000324803.4	+	1	3458	c.498delC	c.(496-498)tgcfs	p.C166fs		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	166					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			ACGTGGAGTGCCCGCCTGCTC	0.692																																						dbGAP											0													182.0	123.0	143.0					4																	1388797		2201	4279	6480	-	-	-	SO:0001589	frameshift_variant	0			AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"""cysteine-rich PAK1inhibitor"""			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.498delC	4.37:g.1388797delC	ENSP00000323978:p.Cys166fs		Q8NB03	Frame_Shift_Del	DEL	smart_Post-SET_dom	p.P167fs	ENST00000324803.4	37	c.498	CCDS3349.1	4																																																																																			CRIPAK	-	NULL	ENSG00000179979		0.692	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRIPAK	HGNC	protein_coding	OTTHUMT00000241607.2	64	0.00	0	C	NM_175918		1388797	1388797	+1	no_errors	ENST00000324803	ensembl	human	known	69_37n	frame_shift_del	6	25.00	2	DEL	0.002	-
CRIPAK	285464	genome.wustl.edu	37	4	1388806	1388807	+	Frame_Shift_Ins	INS	-	-	CA	rs537611982		TCGA-D8-A1XG-01A-11D-A14G-09	TCGA-D8-A1XG-10A-01D-A14G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	800ff536-a1d2-4213-b85e-7780851c6378	8e1c27de-7792-4b53-9e53-7da87ef325f7	g.chr4:1388806_1388807insCA	ENST00000324803.4	+	1	3467_3468	c.507_508insCA	c.(508-510)cacfs	p.H170fs		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	170					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			GCCCGCCTGCTCACACGTGCCC	0.683																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"""cysteine-rich PAK1inhibitor"""			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.510_511dupCA	4.37:g.1388809_1388810dupCA	ENSP00000323978:p.His170fs		Q8NB03	Frame_Shift_Ins	INS	smart_Post-SET_dom	p.C171fs	ENST00000324803.4	37	c.507_508	CCDS3349.1	4																																																																																			CRIPAK	-	smart_Post-SET_dom	ENSG00000179979		0.683	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRIPAK	HGNC	protein_coding	OTTHUMT00000241607.2	42	0.00	0	-	NM_175918		1388806	1388807	+1	no_errors	ENST00000324803	ensembl	human	known	69_37n	frame_shift_ins	4	33.33	2	INS	0.000:0.001	CA
CLDN22	53842	genome.wustl.edu	37	4	184240759	184240759	+	Missense_Mutation	SNP	G	G	T	rs544421553	byFrequency	TCGA-D8-A1XG-01A-11D-A14G-09	TCGA-D8-A1XG-10A-01D-A14G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	800ff536-a1d2-4213-b85e-7780851c6378	8e1c27de-7792-4b53-9e53-7da87ef325f7	g.chr4:184240759G>T	ENST00000323319.5	-	1	1168	c.613C>A	c.(613-615)Caa>Aaa	p.Q205K	WWC2_ENST00000403733.3_3'UTR	NM_001111319.1	NP_001104789.1	Q8N7P3	CLD22_HUMAN	claudin 22	205					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			cervix(1)|kidney(1)|lung(3)|prostate(1)|skin(1)	7		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.0172)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)|Esophageal squamous(56;0.176)		all cancers(43;4.1e-26)|Epithelial(43;6.45e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|Colorectal(24;5.87e-06)|GBM - Glioblastoma multiforme(59;6.5e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		TGATGATCTTGTGTTTGTGCC	0.542																																						dbGAP											0													295.0	262.0	272.0					4																	184240759		1568	3582	5150	-	-	-	SO:0001583	missense	0			AK098064	CCDS43286.1	4q35.1	2010-08-05			ENSG00000177300	ENSG00000177300		"""Claudins"""	2044	protein-coding gene	gene with protein product							Standard	NM_001111319		Approved	CLDN21	uc010isa.1	Q8N7P3	OTTHUMG00000160627	ENST00000323319.5:c.613C>A	4.37:g.184240759G>T	ENSP00000318113:p.Gln205Lys			Missense_Mutation	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_Claudin	p.Q205K	ENST00000323319.5	37	c.613	CCDS43286.1	4	.	.	.	.	.	.	.	.	.	.	G	11.64	1.700215	0.30142	.	.	ENSG00000177300	ENST00000323319	D	0.84298	-1.83	6.07	4.3	0.51218	.	0.614555	0.17094	N	0.187255	T	0.80127	0.4566	L	0.48642	1.525	0.35794	D	0.822607	B	0.26318	0.146	B	0.22386	0.039	T	0.76892	-0.2791	10	0.24483	T	0.36	.	13.5822	0.61909	0.0:0.1196:0.7558:0.1246	.	205	Q8N7P3	CLD22_HUMAN	K	205	ENSP00000318113:Q205K	ENSP00000318113:Q205K	Q	-	1	0	CLDN22	184477753	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	0.754000	0.26390	0.837000	0.34925	0.655000	0.94253	CAA	CLDN22	-	NULL	ENSG00000177300		0.542	CLDN22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLDN22	HGNC	protein_coding	OTTHUMT00000361493.1	108	0.00	0	G			184240759	184240759	-1	no_errors	ENST00000323319	ensembl	human	known	69_37n	missense	17	68.52	37	SNP	0.011	T
ELP4	26610	genome.wustl.edu	37	11	31653874	31653874	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1XG-01A-11D-A14G-09	TCGA-D8-A1XG-10A-01D-A14G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	800ff536-a1d2-4213-b85e-7780851c6378	8e1c27de-7792-4b53-9e53-7da87ef325f7	g.chr11:31653874G>C	ENST00000350638.5	+	7	884	c.849G>C	c.(847-849)aaG>aaC	p.K283N	ELP4_ENST00000379163.5_Missense_Mutation_p.K284N|ELP4_ENST00000395934.2_Missense_Mutation_p.K283N	NM_019040.3	NP_061913.3	Q96EB1	ELP4_HUMAN	elongator acetyltransferase complex subunit 4	283					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|transcription elongation factor complex (GO:0008023)	phosphorylase kinase regulator activity (GO:0008607)			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)	20	Lung SC(675;0.225)					GCCTTACCAAGTTCCTCTATG	0.433																																						dbGAP											0													125.0	123.0	124.0					11																	31653874		1931	4152	6083	-	-	-	SO:0001583	missense	0			AJ276005	CCDS7875.2, CCDS73271.1, CCDS73272.1	11p13	2012-08-14	2012-08-08	2002-05-24	ENSG00000109911	ENSG00000109911		"""Elongator acetyltransferase complex subunits"""	1171	protein-coding gene	gene with protein product		606985	"""chromosome 11 open reading frame 19"", ""elongation protein 4 homolog (S. cerevisiae)"""	C11orf19		11889558, 11435442	Standard	XM_005252865		Approved	PAXNEB	uc001mtb.3	Q96EB1	OTTHUMG00000142919	ENST00000350638.5:c.849G>C	11.37:g.31653874G>C	ENSP00000298937:p.Lys283Asn		B4E3W0|E7EPZ6|Q9H4E8|Q9NX11	Missense_Mutation	SNP	pfam_Elongator_complex_protein_4	p.K283N	ENST00000350638.5	37	c.849	CCDS7875.2	11	.	.	.	.	.	.	.	.	.	.	G	12.20	1.866635	0.32977	.	.	ENSG00000109911	ENST00000350638;ENST00000379163;ENST00000395934	T;T;T	0.46819	0.86;0.86;0.86	5.85	0.251	0.15540	.	0.245934	0.46758	D	0.000275	T	0.55289	0.1911	M	0.71581	2.175	0.38448	D	0.946875	D;D;P	0.57899	0.97;0.981;0.918	P;P;P	0.55923	0.787;0.765;0.601	T	0.57171	-0.7857	10	0.38643	T	0.18	-3.178	10.0939	0.42464	0.4961:0.0:0.5038:0.0	.	284;283;283	B4E3W0;G5E9D4;Q96EB1	.;.;ELP4_HUMAN	N	283;284;283	ENSP00000298937:K283N;ENSP00000368461:K284N;ENSP00000379267:K283N	ENSP00000298937:K283N	K	+	3	2	ELP4	31610450	0.920000	0.31207	0.936000	0.37596	0.550000	0.35303	0.025000	0.13577	0.119000	0.18210	0.650000	0.86243	AAG	ELP4	-	pfam_Elongator_complex_protein_4	ENSG00000109911		0.433	ELP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELP4	HGNC	protein_coding	OTTHUMT00000286640.1	67	0.00	0	G	NM_019040		31653874	31653874	+1	no_errors	ENST00000395934	ensembl	human	known	69_37n	missense	47	46.59	41	SNP	0.559	C
FBN2	2201	genome.wustl.edu	37	5	127597566	127597566	+	Silent	SNP	C	C	T			TCGA-D8-A1XG-01A-11D-A14G-09	TCGA-D8-A1XG-10A-01D-A14G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	800ff536-a1d2-4213-b85e-7780851c6378	8e1c27de-7792-4b53-9e53-7da87ef325f7	g.chr5:127597566C>T	ENST00000508053.1	-	70	9200	c.8226G>A	c.(8224-8226)ggG>ggA	p.G2742G	FBN2_ENST00000262464.4_Silent_p.G2742G			P35556	FBN2_HUMAN	fibrillin 2	2742					anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		ACAGGTACTGCCCCTTGTTAA	0.433																																						dbGAP											0													167.0	144.0	152.0					5																	127597566		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.8226G>A	5.37:g.127597566C>T			B4DU01|Q59ES6	Silent	SNP	pirsf_Fibrillin,pfam_EGF-like_Ca-bd,pfam_EGF-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom	p.G2742	ENST00000508053.1	37	c.8226	CCDS34222.1	5																																																																																			FBN2	-	pirsf_Fibrillin	ENSG00000138829		0.433	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN2	HGNC	protein_coding	OTTHUMT00000371618.2	80	0.00	0	C	NM_001999		127597566	127597566	-1	no_errors	ENST00000262464	ensembl	human	known	69_37n	silent	42	49.40	41	SNP	1.000	T
GLI2	2736	genome.wustl.edu	37	2	121747069	121747070	+	Frame_Shift_Ins	INS	-	-	A			TCGA-D8-A1XG-01A-11D-A14G-09	TCGA-D8-A1XG-10A-01D-A14G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	800ff536-a1d2-4213-b85e-7780851c6378	8e1c27de-7792-4b53-9e53-7da87ef325f7	g.chr2:121747069_121747070insA	ENST00000452319.1	+	14	3639_3640	c.3579_3580insA	c.(3580-3582)agcfs	p.S1194fs	GLI2_ENST00000361492.4_Frame_Shift_Ins_p.S1194fs|GLI2_ENST00000314490.11_Intron					GLI family zinc finger 2											NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				GCCTACAGGCTAGCCCTGGGGG	0.663																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"""Zinc fingers, C2H2-type"""	4318	protein-coding gene	gene with protein product	"""tax-responsive element-2 holding protein"", ""tax helper protein 1"", ""tax helper protein 2"""	165230	"""GLI-Kruppel family member GLI2"", ""glioma-associated oncogene family zinc finger 2"""			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.3580dupA	2.37:g.121747070_121747070dupA	ENSP00000390436:p.Ser1194fs			Frame_Shift_Ins	INS	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S1193fs	ENST00000452319.1	37	c.3579_3580	CCDS33283.1	2																																																																																			GLI2	-	NULL	ENSG00000074047		0.663	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	GLI2	HGNC	protein_coding	OTTHUMT00000332293.3	10	0.00	0	-	NM_005270		121747069	121747070	+1	no_errors	ENST00000361492	ensembl	human	known	69_37n	frame_shift_ins	10	28.57	4	INS	0.000:0.021	A
KANSL3	55683	genome.wustl.edu	37	2	97302834	97302834	+	Silent	SNP	T	T	C			TCGA-D8-A1XG-01A-11D-A14G-09	TCGA-D8-A1XG-10A-01D-A14G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	800ff536-a1d2-4213-b85e-7780851c6378	8e1c27de-7792-4b53-9e53-7da87ef325f7	g.chr2:97302834T>C	ENST00000431828.1	-	2	115	c.39A>G	c.(37-39)tcA>tcG	p.S13S	KANSL3_ENST00000441706.2_5'UTR|KANSL3_ENST00000599854.1_5'UTR|KANSL3_ENST00000487070.1_5'UTR|KANSL3_ENST00000440133.1_5'UTR|KANSL3_ENST00000435669.1_5'UTR			Q9P2N6	KANL3_HUMAN	KAT8 regulatory NSL complex subunit 3	13					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											TGCGTCGAGCTGAAGTCTGGA	0.562																																						dbGAP											0													65.0	61.0	62.0					2																	97302834		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0			BC063792	CCDS46361.1	2q11.2	2011-10-31	2011-10-31	2011-10-31	ENSG00000114982	ENSG00000114982			25473	protein-coding gene	gene with protein product			"""KIAA1310"""	KIAA1310			Standard	NM_001115016		Approved	FLJ10081, Rcd1, NSL3	uc002swn.5	Q9P2N6	OTTHUMG00000155249	ENST00000431828.1:c.39A>G	2.37:g.97302834T>C			A1L184|D3DXH3|D3DXH4|Q05BU4|Q6P3X2|Q6PJH6|Q86T19|Q96L64|Q9H0C9|Q9H8C9|Q9HAP8|Q9NWE5	Silent	SNP	NULL	p.S13	ENST00000431828.1	37	c.39	CCDS46361.1	2																																																																																			KANSL3	-	NULL	ENSG00000114982		0.562	KANSL3-009	KNOWN	basic|appris_principal|CCDS	protein_coding	KANSL3	HGNC	protein_coding	OTTHUMT00000339040.2	31	0.00	0	T	NM_017991		97302834	97302834	-1	no_errors	ENST00000431828	ensembl	human	known	69_37n	silent	18	37.93	11	SNP	0.986	C
LTBP2	4053	genome.wustl.edu	37	14	74995708	74995708	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XG-01A-11D-A14G-09	TCGA-D8-A1XG-10A-01D-A14G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	800ff536-a1d2-4213-b85e-7780851c6378	8e1c27de-7792-4b53-9e53-7da87ef325f7	g.chr14:74995708C>T	ENST00000261978.4	-	11	2491	c.2105G>A	c.(2104-2106)gGc>gAc	p.G702D	LTBP2_ENST00000556690.1_Missense_Mutation_p.G702D	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	702	TB 2.				protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		CCATGCTTTGCCCACGCGGCT	0.637																																						dbGAP											0													32.0	26.0	28.0					14																	74995708		2201	4299	6500	-	-	-	SO:0001583	missense	0				CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681		"""Latent transforming growth factor, beta binding proteins"""	6715	protein-coding gene	gene with protein product		602091	"""chromosome 14 open reading frame 141"""	LTBP3, C14orf141		7798248	Standard	NM_000428		Approved		uc001xqa.3	Q14767		ENST00000261978.4:c.2105G>A	14.37:g.74995708C>T	ENSP00000261978:p.Gly702Asp		Q99907|Q9NS51	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd,pfam_TB_dom,pfam_EGF-like_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom	p.G702D	ENST00000261978.4	37	c.2105	CCDS9831.1	14	.	.	.	.	.	.	.	.	.	.	C	30	5.055526	0.93793	.	.	ENSG00000119681	ENST00000261978;ENST00000556690	D;D	0.95949	-3.86;-3.86	5.35	5.35	0.76521	Matrix fibril-associated (3);TGF-beta binding (1);	0.000000	0.42964	D	0.000637	D	0.97614	0.9218	M	0.91510	3.215	0.58432	D	0.999993	D	0.67145	0.996	P	0.61201	0.885	D	0.96904	0.9662	10	0.11485	T	0.65	.	18.0607	0.89377	0.0:1.0:0.0:0.0	.	702	Q14767	LTBP2_HUMAN	D	702	ENSP00000261978:G702D;ENSP00000451477:G702D	ENSP00000261978:G702D	G	-	2	0	LTBP2	74065461	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	5.287000	0.65645	2.804000	0.96469	0.650000	0.86243	GGC	LTBP2	-	pfam_TB_dom,superfamily_TB_dom	ENSG00000119681		0.637	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LTBP2	HGNC	protein_coding	OTTHUMT00000413595.1	30	0.00	0	C	NM_000428		74995708	74995708	-1	no_errors	ENST00000261978	ensembl	human	known	69_37n	missense	11	31.25	5	SNP	1.000	T
MCTP1	79772	genome.wustl.edu	37	5	94619756	94619756	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A1XG-01A-11D-A14G-09	TCGA-D8-A1XG-10A-01D-A14G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	800ff536-a1d2-4213-b85e-7780851c6378	8e1c27de-7792-4b53-9e53-7da87ef325f7	g.chr5:94619756C>A	ENST00000515393.1	-	1	523	c.524G>T	c.(523-525)aGg>aTg	p.R175M		NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	175					calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		GCGGTCCCCCCTCGGGGGAGG	0.731																																						dbGAP											0													13.0	18.0	16.0					5																	94619756		2081	4157	6238	-	-	-	SO:0001583	missense	0				CCDS34203.1, CCDS47247.1, CCDS75275.1	5q15	2008-02-05			ENSG00000175471	ENSG00000175471			26183	protein-coding gene	gene with protein product						15528213	Standard	XM_005272082		Approved	FLJ22344	uc003kkx.2	Q6DN14	OTTHUMG00000162742	ENST00000515393.1:c.524G>T	5.37:g.94619756C>A	ENSP00000424126:p.Arg175Met		Q6DN13|Q8N2W1|Q8NBA2|Q96LX0|Q9H6E8	Missense_Mutation	SNP	pfam_C2_Ca-dep,pfam_PRibTrfase_C,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_C2_dom	p.R175M	ENST00000515393.1	37	c.524	CCDS34203.1	5	.	.	.	.	.	.	.	.	.	.	C	7.555	0.663479	0.14710	.	.	ENSG00000175471	ENST00000515393	T	0.78595	-1.19	4.54	2.77	0.32553	.	1.984130	0.03616	N	0.235658	T	0.64538	0.2607	N	0.08118	0	0.29270	N	0.870749	P	0.47350	0.894	B	0.43916	0.436	T	0.59091	-0.7519	10	0.38643	T	0.18	-0.6699	7.3852	0.26878	0.0:0.727:0.0:0.273	.	175	Q6DN14	MCTP1_HUMAN	M	175	ENSP00000424126:R175M	ENSP00000424126:R175M	R	-	2	0	MCTP1	94645512	0.058000	0.20735	0.044000	0.18714	0.067000	0.16453	0.478000	0.22212	0.555000	0.29079	0.650000	0.86243	AGG	MCTP1	-	NULL	ENSG00000175471		0.731	MCTP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MCTP1	HGNC	protein_coding	OTTHUMT00000370280.3	35	0.00	0	C	NM_024717		94619756	94619756	-1	no_errors	ENST00000515393	ensembl	human	known	69_37n	missense	9	47.06	8	SNP	0.319	A
MUC12	10071	genome.wustl.edu	37	7	100643088	100643088	+	Missense_Mutation	SNP	A	A	G	rs145334771		TCGA-D8-A1XG-01A-11D-A14G-09	TCGA-D8-A1XG-10A-01D-A14G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	800ff536-a1d2-4213-b85e-7780851c6378	8e1c27de-7792-4b53-9e53-7da87ef325f7	g.chr7:100643088A>G	ENST00000379442.3	+	5	9673	c.9673A>G	c.(9673-9675)Atc>Gtc	p.I3225V	MUC12_ENST00000536621.1_Missense_Mutation_p.I3082V			Q9UKN1	MUC12_HUMAN	mucin 12, cell surface associated	3225	28 X 19 AA approximate tandem repeats of E-E-S-X-X-X-H-X-X-P-X-X-T-X-T-X-X-X-P.|Ser-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|regulation of cell growth (GO:0001558)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)				breast(6)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)|stomach(13)	25						AACGTCACCCATCAGTTCAGG	0.527																																						dbGAP											0													1.0	1.0	1.0					7																	100643088		296	744	1040	-	-	-	SO:0001583	missense	0			AF147790, AF147791	CCDS55139.1	7q22	2007-01-17	2006-03-14		ENSG00000205277	ENSG00000205277		"""Mucins"""	7510	protein-coding gene	gene with protein product		604609	"""mucin 11"""	MUC11		10463611	Standard	NM_001164462		Approved		uc003uxo.3	Q9UKN1	OTTHUMG00000157042	ENST00000379442.3:c.9673A>G	7.37:g.100643088A>G	ENSP00000368755:p.Ile3225Val		A6ND38|F5GWV9|Q9UKN0	Missense_Mutation	SNP	pfam_SEA	p.I3225V	ENST00000379442.3	37	c.9673		7	.	.	.	.	.	.	.	.	.	.	A	0.560	-0.845491	0.02671	.	.	ENSG00000205277	ENST00000379442;ENST00000536621	T;T	0.10668	2.85;2.85	0.869	-1.74	0.08056	.	.	.	.	.	T	0.03434	0.0099	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.43343	-0.9397	7	0.10636	T	0.68	.	2.1609	0.03825	0.3953:0.3275:0.2772:0.0	.	.	.	.	V	3225;3082	ENSP00000368755:I3225V;ENSP00000441929:I3082V	ENSP00000368755:I3225V	I	+	1	0	MUC12	100429808	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.186000	0.16978	-0.940000	0.03705	0.163000	0.16589	ATC	MUC12	-	NULL	ENSG00000205277		0.527	MUC12-001	NOVEL	basic|appris_candidate_longest	protein_coding	MUC12	HGNC	protein_coding	OTTHUMT00000347234.1	27	0.00	0	A	XM_379904		100643088	100643088	+1	no_errors	ENST00000379442	ensembl	human	known	69_37n	missense	42	12.50	6	SNP	0.000	G
NIPAL2	79815	genome.wustl.edu	37	8	99217462	99217463	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-D8-A1XG-01A-11D-A14G-09	TCGA-D8-A1XG-10A-01D-A14G-09	AC	AC					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	800ff536-a1d2-4213-b85e-7780851c6378	8e1c27de-7792-4b53-9e53-7da87ef325f7	g.chr8:99217462_99217463delAC	ENST00000341166.3	-	7	922_923	c.667_668delGT	c.(667-669)gttfs	p.V223fs	NIPAL2_ENST00000520545.1_5'UTR|NIPAL2_ENST00000430223.2_Frame_Shift_Del_p.V223fs	NM_024759.1	NP_079035.1	Q9H841	NPAL2_HUMAN	NIPA-like domain containing 2	223						integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)			cervix(3)|kidney(1)|large_intestine(2)|lung(5)|stomach(1)	12						TACTGAAATAACAGTCAATGAG	0.302																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK024017	CCDS6278.1	8q22.2	2009-03-24		2009-03-24	ENSG00000104361	ENSG00000104361			25854	protein-coding gene	gene with protein product				NPAL2		14702039	Standard	NM_024759		Approved	FLJ13955	uc003yil.1	Q9H841	OTTHUMG00000164668	ENST00000341166.3:c.667_668delGT	8.37:g.99217462_99217463delAC	ENSP00000339256:p.Val223fs		A2RTY8	Frame_Shift_Del	DEL	pfam_Mg_trans_NIPA	p.V223fs	ENST00000341166.3	37	c.668_667	CCDS6278.1	8																																																																																			NIPAL2	-	pfam_Mg_trans_NIPA	ENSG00000104361		0.302	NIPAL2-001	KNOWN	basic|CCDS	protein_coding	NIPAL2	HGNC	protein_coding	OTTHUMT00000379677.1	59	0.00	0	AC	NM_024759		99217462	99217463	-1	no_errors	ENST00000341166	ensembl	human	known	69_37n	frame_shift_del	57	33.72	29	DEL	1.000:1.000	-
NPAS3	64067	genome.wustl.edu	37	14	34269262	34269262	+	Silent	SNP	G	G	A			TCGA-D8-A1XG-01A-11D-A14G-09	TCGA-D8-A1XG-10A-01D-A14G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	800ff536-a1d2-4213-b85e-7780851c6378	8e1c27de-7792-4b53-9e53-7da87ef325f7	g.chr14:34269262G>A	ENST00000356141.4	+	12	1749	c.1749G>A	c.(1747-1749)tcG>tcA	p.S583S	NPAS3_ENST00000346562.2_Silent_p.S551S|NPAS3_ENST00000548645.1_Silent_p.S553S|NPAS3_ENST00000357798.5_Silent_p.S570S|NPAS3_ENST00000551492.1_Silent_p.S588S			Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	583					locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|positive regulation of transcription, DNA-templated (GO:0045893)|startle response (GO:0001964)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		CCAAGGACTCGGACAGCGCAG	0.682																																						dbGAP											0													17.0	16.0	17.0					14																	34269262		2199	4299	6498	-	-	-	SO:0001819	synonymous_variant	0			AF164438	CCDS9645.1, CCDS53891.1, CCDS53892.1, CCDS55912.1	14q13.1	2013-08-23			ENSG00000151322	ENSG00000151322		"""Basic helix-loop-helix proteins"""	19311	protein-coding gene	gene with protein product		609430					Standard	NM_022123		Approved	MOP6, PASD6, bHLHe12	uc001wru.3	Q8IXF0	OTTHUMG00000140215	ENST00000356141.4:c.1749G>A	14.37:g.34269262G>A			Q86US6|Q86US7|Q8IXF2|Q9BY81|Q9H323|Q9Y4L8	Silent	SNP	pfam_PAS_fold_3,pfam_PAS_fold,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,smart_PAS,pfscan_PAS,pfscan_HLH_DNA-bd	p.S583	ENST00000356141.4	37	c.1749	CCDS53891.1	14																																																																																			NPAS3	-	NULL	ENSG00000151322		0.682	NPAS3-004	KNOWN	basic|CCDS	protein_coding	NPAS3	HGNC	protein_coding	OTTHUMT00000276645.1	14	0.00	0	G			34269262	34269262	+1	no_errors	ENST00000356141	ensembl	human	known	69_37n	silent	5	44.44	4	SNP	0.991	A
PHLDB2	90102	genome.wustl.edu	37	3	111632438	111632438	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A1XG-01A-11D-A14G-09	TCGA-D8-A1XG-10A-01D-A14G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	800ff536-a1d2-4213-b85e-7780851c6378	8e1c27de-7792-4b53-9e53-7da87ef325f7	g.chr3:111632438G>T	ENST00000431670.2	+	3	2019	c.1608G>T	c.(1606-1608)agG>agT	p.R536S	PHLDB2_ENST00000412622.1_Missense_Mutation_p.R536S|PHLDB2_ENST00000481953.1_Missense_Mutation_p.R536S|PHLDB2_ENST00000477695.1_Missense_Mutation_p.R536S|PHLDB2_ENST00000495180.1_Missense_Mutation_p.R122S|PHLDB2_ENST00000393925.3_Missense_Mutation_p.R536S|PHLDB2_ENST00000393923.3_Missense_Mutation_p.R563S	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	536						cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						TTACCCCCAGGAGCACCAGGA	0.542																																						dbGAP											0													135.0	141.0	139.0					3																	111632438		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824		"""Pleckstrin homology (PH) domain containing"""	29573	protein-coding gene	gene with protein product		610298				12376540	Standard	NM_145753		Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.1608G>T	3.37:g.111632438G>T	ENSP00000405405:p.Arg536Ser		A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.R536S	ENST00000431670.2	37	c.1608	CCDS46886.1	3	.	.	.	.	.	.	.	.	.	.	G	14.87	2.664158	0.47572	.	.	ENSG00000144824	ENST00000359729;ENST00000393923;ENST00000431670;ENST00000412622;ENST00000498699;ENST00000477695;ENST00000393925;ENST00000481953;ENST00000495180	T;T;T;T;T;T;T	0.39997	1.05;1.18;1.07;1.15;1.18;1.07;1.24	5.73	1.99	0.26369	.	0.227351	0.45867	D	0.000325	T	0.46464	0.1394	L	0.36672	1.1	0.34820	D	0.738577	P;B;D;P;P	0.89917	0.651;0.255;1.0;0.763;0.763	B;B;D;B;B	0.83275	0.084;0.057;0.996;0.311;0.311	T	0.51663	-0.8677	10	0.25106	T	0.35	.	7.1392	0.25546	0.4171:0.0:0.5829:0.0	.	122;536;536;536;563	E9PGF6;Q86SQ0;G5E9V3;Q86SQ0-2;Q86SQ0-3	.;PHLB2_HUMAN;.;.;.	S	563;563;536;536;536;536;536;536;122	ENSP00000377500:R563S;ENSP00000405405:R536S;ENSP00000405292:R536S;ENSP00000418296:R536S;ENSP00000377502:R536S;ENSP00000418319:R536S;ENSP00000420303:R122S	ENSP00000352764:R563S	R	+	3	2	PHLDB2	113115128	0.987000	0.35691	0.994000	0.49952	0.293000	0.27360	0.274000	0.18680	0.365000	0.24400	-0.263000	0.10527	AGG	PHLDB2	-	NULL	ENSG00000144824		0.542	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHLDB2	HGNC	protein_coding	OTTHUMT00000354337.1	71	0.00	0	G	NM_145753		111632438	111632438	+1	no_errors	ENST00000393925	ensembl	human	known	69_37n	missense	53	30.26	23	SNP	0.991	T
PPP1CA	5499	genome.wustl.edu	37	11	67166579	67166579	+	Silent	SNP	T	T	A			TCGA-D8-A1XG-01A-11D-A14G-09	TCGA-D8-A1XG-10A-01D-A14G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	800ff536-a1d2-4213-b85e-7780851c6378	8e1c27de-7792-4b53-9e53-7da87ef325f7	g.chr11:67166579T>A	ENST00000376745.4	-	5	727	c.579A>T	c.(577-579)acA>acT	p.T193T	PPP1CA_ENST00000358239.4_Silent_p.T149T|PPP1CA_ENST00000532446.1_5'UTR|PPP1CA_ENST00000312989.7_Silent_p.T204T	NM_001008709.1|NM_002708.3	NP_001008709.1|NP_002699.1	P62136	PP1A_HUMAN	protein phosphatase 1, catalytic subunit, alpha isozyme	193					branching morphogenesis of an epithelial tube (GO:0048754)|cell cycle (GO:0007049)|cell division (GO:0051301)|circadian regulation of gene expression (GO:0032922)|entrainment of circadian clock by photoperiod (GO:0043153)|glycogen metabolic process (GO:0005977)|lung development (GO:0030324)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein dephosphorylation (GO:0006470)|regulation of circadian rhythm (GO:0042752)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of glycogen catabolic process (GO:0005981)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)|triglyceride catabolic process (GO:0019433)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|MLL5-L complex (GO:0070688)|nucleus (GO:0005634)|perikaryon (GO:0043204)|protein phosphatase type 1 complex (GO:0000164)|PTW/PP1 phosphatase complex (GO:0072357)	metal ion binding (GO:0046872)|phosphatase activity (GO:0016791)|protein serine/threonine phosphatase activity (GO:0004722)|ribonucleoprotein complex binding (GO:0043021)			breast(1)|lung(2)|pancreas(1)|urinary_tract(3)	7			BRCA - Breast invasive adenocarcinoma(15;8.53e-07)			CAGGCACATCTGTGGGCCGCA	0.627																																						dbGAP											0													54.0	56.0	56.0					11																	67166579		2200	4295	6495	-	-	-	SO:0001819	synonymous_variant	0				CCDS8160.1, CCDS8161.1, CCDS31618.1	11q13	2013-01-18	2010-03-05			ENSG00000172531	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9281	protein-coding gene	gene with protein product		176875	"""protein phosphatase 1, catalytic subunit, alpha isoform"""	PPP1A			Standard	NM_002708		Approved	PP1A, PP-1A, PP1alpha	uc001oku.1	P62136		ENST00000376745.4:c.579A>T	11.37:g.67166579T>A			A6NNR3|B2R908|P08129|P20653|P22802|Q07161	Silent	SNP	pfam_Metallo_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase	p.T204	ENST00000376745.4	37	c.612	CCDS8160.1	11																																																																																			PPP1CA	-	pfam_Metallo_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase	ENSG00000172531		0.627	PPP1CA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1CA	HGNC	protein_coding	OTTHUMT00000395487.1	24	0.00	0	T	NM_002708		67166579	67166579	-1	no_errors	ENST00000312989	ensembl	human	known	69_37n	silent	10	44.44	8	SNP	0.746	A
PXDN	7837	genome.wustl.edu	37	2	1670036	1670036	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A1XG-01A-11D-A14G-09	TCGA-D8-A1XG-10A-01D-A14G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	800ff536-a1d2-4213-b85e-7780851c6378	8e1c27de-7792-4b53-9e53-7da87ef325f7	g.chr2:1670036G>T	ENST00000252804.4	-	10	1291	c.1241C>A	c.(1240-1242)gCg>gAg	p.A414E	PXDN_ENST00000483018.1_5'UTR	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	414	Ig-like C2-type 2.				extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GTTGTTGGTCGCAGAGCACGC	0.592																																						dbGAP											0													71.0	76.0	74.0					2																	1670036		2172	4260	6432	-	-	-	SO:0001583	missense	0			AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.1241C>A	2.37:g.1670036G>T	ENSP00000252804:p.Ala414Glu		A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like	p.A414E	ENST00000252804.4	37	c.1241	CCDS46221.1	2	.	.	.	.	.	.	.	.	.	.	G	18.39	3.613679	0.66672	.	.	ENSG00000130508	ENST00000252804	T	0.76839	-1.05	4.57	4.57	0.56435	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.92828	0.7719	H	0.98980	4.39	0.58432	D	0.999991	D;D	0.76494	0.999;0.997	D;D	0.76575	0.988;0.988	D	0.95619	0.8679	10	0.87932	D	0	-26.066	15.7097	0.77615	0.0:0.0:1.0:0.0	.	414;414	Q92626-2;Q92626	.;PXDN_HUMAN	E	414	ENSP00000252804:A414E	ENSP00000252804:A414E	A	-	2	0	PXDN	1649043	1.000000	0.71417	0.780000	0.31762	0.037000	0.13140	9.560000	0.98139	2.362000	0.80069	0.655000	0.94253	GCG	PXDN	-	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000130508		0.592	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PXDN	HGNC	protein_coding	OTTHUMT00000322505.1	56	0.00	0	G	XM_056455		1670036	1670036	-1	no_errors	ENST00000252804	ensembl	human	known	69_37n	missense	32	11.11	4	SNP	1.000	T
RBL1	5933	genome.wustl.edu	37	20	35689643	35689643	+	Silent	SNP	C	C	T			TCGA-D8-A1XG-01A-11D-A14G-09	TCGA-D8-A1XG-10A-01D-A14G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	800ff536-a1d2-4213-b85e-7780851c6378	8e1c27de-7792-4b53-9e53-7da87ef325f7	g.chr20:35689643C>T	ENST00000373664.3	-	9	1179	c.1113G>A	c.(1111-1113)ctG>ctA	p.L371L	RBL1_ENST00000344359.3_Silent_p.L371L	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1	371					chromatin modification (GO:0016568)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription factor binding (GO:0008134)			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				TCCGTCCGGTCAGTGGGGTAG	0.418																																						dbGAP											0													102.0	98.0	99.0					20																	35689643		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L14812	CCDS13289.1, CCDS13290.1	20q11.23	2014-03-11	2014-03-11		ENSG00000080839	ENSG00000080839			9893	protein-coding gene	gene with protein product		116957				1833063	Standard	NM_183404		Approved	p107, cp107, PRB1	uc002xgi.3	P28749	OTTHUMG00000032406	ENST00000373664.3:c.1113G>A	20.37:g.35689643C>T			A8K2W5|Q4VXA0|Q8N5K6|Q9H1L5|Q9H1M1	Silent	SNP	pfam_RB_A,pfam_RB_B,pfam_DUF3452_retinoblatoma-assoc,pfam_Rb_C,superfamily_Cyclin-like,smart_Cyclin-like	p.L371	ENST00000373664.3	37	c.1113	CCDS13289.1	20																																																																																			RBL1	-	NULL	ENSG00000080839		0.418	RBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBL1	HGNC	protein_coding	OTTHUMT00000079067.2	86	0.00	0	C	NM_002895		35689643	35689643	-1	no_errors	ENST00000373664	ensembl	human	known	69_37n	silent	39	41.79	28	SNP	1.000	T
SEMA5B	54437	genome.wustl.edu	37	3	122645475	122645475	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A1XG-01A-11D-A14G-09	TCGA-D8-A1XG-10A-01D-A14G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	800ff536-a1d2-4213-b85e-7780851c6378	8e1c27de-7792-4b53-9e53-7da87ef325f7	g.chr3:122645475G>T	ENST00000357599.3	-	9	1286	c.900C>A	c.(898-900)ttC>ttA	p.F300L	SEMA5B_ENST00000451055.2_Missense_Mutation_p.F354L|AC078794.1_ENST00000408284.1_RNA|SEMA5B_ENST00000195173.4_Missense_Mutation_p.F300L	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	300	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		TCTCCCGCAGGAAGAAGTATG	0.612																																						dbGAP											0													64.0	52.0	56.0					3																	122645475		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB040878	CCDS35491.1, CCDS58848.1, CCDS74995.1	3q21.1	2008-07-18			ENSG00000082684	ENSG00000082684		"""Semaphorins"""	10737	protein-coding gene	gene with protein product		609298		SEMAG		8817451	Standard	NM_001256346		Approved	SemG, KIAA1445, FLJ10372	uc031sbm.1	Q9P283	OTTHUMG00000140392	ENST00000357599.3:c.900C>A	3.37:g.122645475G>T	ENSP00000350215:p.Phe300Leu		A8K5U2|B7Z393|F8W9U8|Q6DD89|Q6UY12|Q9NW17	Missense_Mutation	SNP	pfam_Semaphorin/CD100_Ag,pfam_Thrombospondin_1_rpt,superfamily_Semaphorin/CD100_Ag,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_Thrombospondin_1_rpt,pfscan_Semaphorin/CD100_Ag,pfscan_Thrombospondin_1_rpt	p.F354L	ENST00000357599.3	37	c.1062	CCDS35491.1	3	.	.	.	.	.	.	.	.	.	.	G	14.57	2.573564	0.45902	.	.	ENSG00000082684	ENST00000357599;ENST00000195173;ENST00000418793;ENST00000451055;ENST00000393583	T;T;T;T	0.28666	1.6;1.6;1.6;1.6	4.69	1.93	0.25924	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.46600	0.1401	M	0.75264	2.295	0.47476	D	0.999436	D;B;B	0.76494	0.999;0.055;0.055	D;B;B	0.77004	0.989;0.167;0.167	T	0.40850	-0.9541	10	0.18710	T	0.47	.	7.2325	0.26051	0.156:0.1397:0.7043:0.0	.	242;300;300	D3YTI7;B5ME80;Q9P283	.;.;SEM5B_HUMAN	L	300;300;242;354;300	ENSP00000350215:F300L;ENSP00000195173:F300L;ENSP00000389588:F354L;ENSP00000377208:F300L	ENSP00000195173:F300L	F	-	3	2	SEMA5B	124128165	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.655000	0.37345	0.214000	0.20742	0.650000	0.86243	TTC	SEMA5B	-	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag	ENSG00000082684		0.612	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	SEMA5B	HGNC	protein_coding	OTTHUMT00000277165.1	32	0.00	0	G	NM_001031702		122645475	122645475	-1	no_errors	ENST00000451055	ensembl	human	known	69_37n	missense	11	45.00	9	SNP	1.000	T
SETD7	80854	genome.wustl.edu	37	4	140454468	140454468	+	Missense_Mutation	SNP	T	T	A			TCGA-D8-A1XG-01A-11D-A14G-09	TCGA-D8-A1XG-10A-01D-A14G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	800ff536-a1d2-4213-b85e-7780851c6378	8e1c27de-7792-4b53-9e53-7da87ef325f7	g.chr4:140454468T>A	ENST00000274031.3	-	3	859	c.223A>T	c.(223-225)Act>Tct	p.T75S	SETD7_ENST00000506866.2_Missense_Mutation_p.T75S|SETD7_ENST00000406354.1_Silent_p.T57T|SETD7_ENST00000404104.3_Missense_Mutation_p.T75S	NM_030648.2	NP_085151.1	Q8WTS6	SETD7_HUMAN	SET domain containing (lysine methyltransferase) 7	75					chromatin modification (GO:0016568)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	8	all_hematologic(180;0.156)					TCTTCGTAAGTGTAAACTCCC	0.507																																						dbGAP											0													89.0	77.0	81.0					4																	140454468		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB051504	CCDS3748.1	4q31.1	2011-07-01			ENSG00000145391	ENSG00000145391		"""Chromatin-modifying enzymes / K-methyltransferases"""	30412	protein-coding gene	gene with protein product		606594				11850410, 11779497	Standard	NM_030648		Approved	KIAA1717, SET7, SET7/9, Set9, KMT7	uc003ihw.3	Q8WTS6	OTTHUMG00000133385	ENST00000274031.3:c.223A>T	4.37:g.140454468T>A	ENSP00000274031:p.Thr75Ser		B5WWL3|Q0VAH3|Q4W5A9|Q9C0E6	Missense_Mutation	SNP	pfam_MORN,pfam_SET_dom,smart_SET_dom,pirsf_Hist-Lys_N-MeTrfase_SET,pfscan_SET_dom	p.T75S	ENST00000274031.3	37	c.223	CCDS3748.1	4	.	.	.	.	.	.	.	.	.	.	T	32	5.122413	0.94429	.	.	ENSG00000145391	ENST00000506866;ENST00000274031;ENST00000404104	T;T;T	0.59364	0.27;0.27;0.91	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.65196	0.2668	L	0.53729	1.69	0.80722	D	1	P;P	0.52692	0.955;0.596	P;B	0.52424	0.698;0.308	T	0.64542	-0.6383	10	0.41790	T	0.15	-18.4018	16.4237	0.83790	0.0:0.0:0.0:1.0	.	75;75	B5MCZ8;Q8WTS6	.;SETD7_HUMAN	S	75	ENSP00000427300:T75S;ENSP00000274031:T75S;ENSP00000385913:T75S	ENSP00000274031:T75S	T	-	1	0	SETD7	140673918	1.000000	0.71417	0.995000	0.50966	0.966000	0.64601	7.510000	0.81708	2.279000	0.76181	0.533000	0.62120	ACT	SETD7	-	pfam_MORN,pirsf_Hist-Lys_N-MeTrfase_SET	ENSG00000145391		0.507	SETD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETD7	HGNC	protein_coding	OTTHUMT00000257236.1	102	0.97	1	T	NM_030648		140454468	140454468	-1	no_errors	ENST00000274031	ensembl	human	known	69_37n	missense	19	59.57	28	SNP	1.000	A
SLC22A10	387775	genome.wustl.edu	37	11	63071594	63071594	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XG-01A-11D-A14G-09	TCGA-D8-A1XG-10A-01D-A14G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	800ff536-a1d2-4213-b85e-7780851c6378	8e1c27de-7792-4b53-9e53-7da87ef325f7	g.chr11:63071594C>T	ENST00000332793.6	+	8	1302	c.1300C>T	c.(1300-1302)Cgt>Tgt	p.R434C	SLC22A10_ENST00000526800.1_Intron|SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000544661.1_Silent_p.C232C|SLC22A10_ENST00000535888.1_Intron	NM_001039752.3	NP_001034841.3	Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	434						integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28					Conjugated Estrogens(DB00286)|Probenecid(DB01032)|Salicylic acid(DB00936)	GCAGACCCTGCGTGTGGCTTT	0.453																																						dbGAP											0													174.0	180.0	178.0					11																	63071594		2110	4269	6379	-	-	-	SO:0001583	missense	0			AP003420	CCDS41661.1	11q12.3	2013-05-22	2008-01-11		ENSG00000184999	ENSG00000184999		"""Solute carriers"""	18057	protein-coding gene	gene with protein product		607580	"""solute carrier family 22 (organic anion/cation transporter), member 10"""			11327718	Standard	NM_001039752		Approved	OAT5, hOAT5	uc009yor.3	Q63ZE4	OTTHUMG00000165197	ENST00000332793.6:c.1300C>T	11.37:g.63071594C>T	ENSP00000327569:p.Arg434Cys		Q68CJ0	Missense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.R434C	ENST00000332793.6	37	c.1300	CCDS41661.1	11	.	.	.	.	.	.	.	.	.	.	C	14.46	2.542532	0.45280	.	.	ENSG00000184999	ENST00000332793	T	0.74106	-0.81	3.05	2.09	0.27110	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	U	0.000000	D	0.86159	0.5866	M	0.92784	3.345	0.26834	N	0.968514	D	0.89917	1.0	D	0.71414	0.973	T	0.77140	-0.2697	10	0.72032	D	0.01	.	7.4204	0.27069	0.2591:0.7409:0.0:0.0	.	434	Q63ZE4	S22AA_HUMAN	C	434	ENSP00000327569:R434C	ENSP00000327569:R434C	R	+	1	0	SLC22A10	62828170	0.962000	0.33011	0.094000	0.20943	0.211000	0.24417	0.450000	0.21762	0.609000	0.30018	0.579000	0.79373	CGT	SLC22A10	-	pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000184999		0.453	SLC22A10-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A10	HGNC	protein_coding	OTTHUMT00000382622.3	143	0.00	0	C	NM_001039752		63071594	63071594	+1	no_errors	ENST00000332793	ensembl	human	known	69_37n	missense	145	17.61	31	SNP	0.506	T
SQRDL	58472	genome.wustl.edu	37	15	45954163	45954163	+	Missense_Mutation	SNP	A	A	C			TCGA-D8-A1XG-01A-11D-A14G-09	TCGA-D8-A1XG-10A-01D-A14G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	800ff536-a1d2-4213-b85e-7780851c6378	8e1c27de-7792-4b53-9e53-7da87ef325f7	g.chr15:45954163A>C	ENST00000260324.7	+	3	631	c.245A>C	c.(244-246)tAc>tCc	p.Y82S	SQRDL_ENST00000568606.1_Missense_Mutation_p.Y82S|RP11-96O20.4_ENST00000564080.1_Missense_Mutation_p.Y82S	NM_021199.3	NP_067022.1	Q9Y6N5	SQRD_HUMAN	sulfide quinone reductase-like (yeast)	82					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)	mitochondrial inner membrane (GO:0005743)	sulfide:quinone oxidoreductase activity (GO:0070224)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	11		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)		all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188)		AGACATTTCTACCAGCCAATC	0.428																																						dbGAP											0													72.0	63.0	66.0					15																	45954163		2198	4297	6495	-	-	-	SO:0001583	missense	0			AF042284	CCDS10127.1	15q21.1	2010-08-05			ENSG00000137767	ENSG00000137767			20390	protein-coding gene	gene with protein product						10810093, 10224084	Standard	NM_021199		Approved	CGI-44	uc001zvu.4	Q9Y6N5	OTTHUMG00000131476	ENST00000260324.7:c.245A>C	15.37:g.45954163A>C	ENSP00000260324:p.Tyr82Ser		Q9UQM8	Missense_Mutation	SNP	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD	p.Y82S	ENST00000260324.7	37	c.245	CCDS10127.1	15	.	.	.	.	.	.	.	.	.	.	A	24.4	4.526575	0.85706	.	.	ENSG00000137767	ENST00000260324	T	0.44881	0.91	5.52	5.52	0.82312	Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.76673	0.4020	H	0.97587	4.035	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85301	0.1073	10	0.87932	D	0	.	14.4732	0.67531	1.0:0.0:0.0:0.0	.	82	Q9Y6N5	SQRD_HUMAN	S	82	ENSP00000260324:Y82S	ENSP00000260324:Y82S	Y	+	2	0	SQRDL	43741455	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.930000	0.92872	2.090000	0.63153	0.533000	0.62120	TAC	SQRDL	-	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD	ENSG00000137767		0.428	SQRDL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SQRDL	HGNC	protein_coding	OTTHUMT00000254319.2	84	0.00	0	A			45954163	45954163	+1	no_errors	ENST00000260324	ensembl	human	known	69_37n	missense	71	22.83	21	SNP	1.000	C
ST6GAL2	84620	genome.wustl.edu	37	2	107423302	107423302	+	Silent	SNP	G	G	A	rs145567871	byFrequency	TCGA-D8-A1XG-01A-11D-A14G-09	TCGA-D8-A1XG-10A-01D-A14G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	800ff536-a1d2-4213-b85e-7780851c6378	8e1c27de-7792-4b53-9e53-7da87ef325f7	g.chr2:107423302G>A	ENST00000409382.3	-	6	2032	c.1422C>T	c.(1420-1422)gaC>gaT	p.D474D	ST6GAL2_ENST00000361686.4_Silent_p.D474D	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	474					growth (GO:0040007)|multicellular organismal development (GO:0007275)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						TGCAGGCTGCGTCGTAGTACA	0.577													G|||	3	0.000599042	0.0	0.0	5008	,	,		16318	0.0		0.003	False		,,,				2504	0.0					dbGAP											0													83.0	73.0	76.0					2																	107423302		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB059555	CCDS2073.1, CCDS46380.1	2q11-q12	2008-02-05	2005-02-07	2005-02-07	ENSG00000144057	ENSG00000144057	2.4.99.2		10861	protein-coding gene	gene with protein product		608472	"""sialyltransferase 2 (monosialoganglioside sialyltransferase)"""	SIAT2			Standard	NM_032528		Approved	KIAA1877, St6gal2, St6GalII	uc002tdr.3	Q96JF0	OTTHUMG00000130923	ENST00000409382.3:c.1422C>T	2.37:g.107423302G>A			D3DVK3|Q53QP4|Q86Y44|Q8IUG7|Q96HE4	Missense_Mutation	SNP	pfam_Glyco_trans_29	p.R40C	ENST00000409382.3	37	c.118	CCDS2073.1	2	3	0.0013736263736263737	0	0.0	0	0.0	0	0.0	3	0.00395778364116095	G	10.73	1.432679	0.25813	.	.	ENSG00000144057	ENST00000361803	.	.	.	5.8	1.27	0.21489	.	.	.	.	.	T	0.55609	0.1931	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47394	-0.9121	4	.	.	.	-49.8662	8.2343	0.31616	0.5508:0.0:0.4492:0.0	.	.	.	.	C	40	.	.	R	-	1	0	ST6GAL2	106789734	0.990000	0.36364	0.996000	0.52242	0.995000	0.86356	0.440000	0.21592	0.319000	0.23209	-0.150000	0.13652	CGC	ST6GAL2	-	pfam_Glyco_trans_29	ENSG00000144057		0.577	ST6GAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ST6GAL2	HGNC	protein_coding	OTTHUMT00000330065.1	39	0.00	0	G	NM_032528		107423302	107423302	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000361803	ensembl	human	known	69_37n	missense	24	29.41	10	SNP	1.000	A
ZMYND8	23613	genome.wustl.edu	37	20	45867567	45867569	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-D8-A1XG-01A-11D-A14G-09	TCGA-D8-A1XG-10A-01D-A14G-09	TGC	TGC					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	800ff536-a1d2-4213-b85e-7780851c6378	8e1c27de-7792-4b53-9e53-7da87ef325f7	g.chr20:45867567_45867569delTGC	ENST00000311275.7	-	15	2791_2793	c.2538_2540delGCA	c.(2536-2541)cagcaa>caa	p.846_847QQ>Q	ZMYND8_ENST00000355972.4_In_Frame_Del_p.846_847QQ>Q|ZMYND8_ENST00000352431.2_Intron|ZMYND8_ENST00000471951.2_In_Frame_Del_p.866_867QQ>Q|ZMYND8_ENST00000396281.4_In_Frame_Del_p.846_847QQ>Q|ZMYND8_ENST00000536340.1_In_Frame_Del_p.873_874QQ>Q|ZMYND8_ENST00000262975.4_Intron|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000458360.2_Intron|ZMYND8_ENST00000446994.2_Intron|ZMYND8_ENST00000372023.3_Intron|ZMYND8_ENST00000360911.3_Intron|ZMYND8_ENST00000540497.1_In_Frame_Del_p.794_795QQ>Q|ZMYND8_ENST00000461685.1_Intron	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	846	Poly-Gln.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			ctgctggttttgctgctgctgct	0.576																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			U48251	CCDS13404.1, CCDS13405.1, CCDS46613.1, CCDS63300.1, CCDS63301.1, CCDS63304.1, CCDS63306.1, CCDS74738.1	20q13.12	2013-01-28	2007-01-29	2007-01-29	ENSG00000101040	ENSG00000101040		"""Zinc fingers, MYND-type"", ""Zinc fingers, PHD-type"""	9397	protein-coding gene	gene with protein product		615713	"""protein kinase C binding protein 1"""	PRKCBP1			Standard	NM_001281769		Approved	RACK7	uc002xtb.1	Q9ULU4	OTTHUMG00000032667	ENST00000311275.7:c.2538_2540delGCA	20.37:g.45867576_45867578delTGC	ENSP00000312237:p.Gln847del		B3KVL2|B7Z2A8|B7Z3E0|B7Z680|B7ZM62|E1P5U5|F5H0X3|H7C0U2|J3KPU3|Q13517|Q2HXV1|Q2HXV2|Q2HXV3|Q2HXV4|Q2HXV7|Q2HXV8|Q2HXV9|Q2HXW0|Q2HXW1|Q2HXW2|Q4JJ94|Q4JJ95|Q5TH09|Q5TH11|Q6MZM1|Q8WXC5|Q9H1F3|Q9H1F4|Q9H1F5|Q9H1L8|Q9H1L9|Q9H2G5|Q9NYN3|Q9UIX6	In_Frame_Del	DEL	pfam_DUF3544,pfam_Bromodomain,pfam_PWWP,pfam_Znf_PHD-finger,pfam_Znf_MYND,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP,pfscan_PWWP,pfscan_Znf_MYND,pfscan_Znf_PHD-finger,pfscan_Bromodomain	p.Q874in_frame_del	ENST00000311275.7	37	c.2621_2619		20																																																																																			ZMYND8	-	NULL	ENSG00000101040		0.576	ZMYND8-007	KNOWN	basic	protein_coding	ZMYND8	HGNC	protein_coding	OTTHUMT00000079596.2	14	0.00	0	TGC	NM_183047		45867567	45867569	-1	no_errors	ENST00000536340	ensembl	human	known	69_37n	in_frame_del	2	50.00	2	DEL	0.997:0.999:0.981	-
