#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name	i_deletion_substructures	i_domain	i_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	i_gene_name_source	i_gene_type	i_havana_transcript	i_header	i_normal_VAF	i_normal_ref_reads	i_normal_var_reads	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_tier	i_title	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_tumor_VAF	i_tumor_ref_reads	i_tumor_var_reads	i_type	i_ucsc_cons	i_variant
AATK	9625	genome.wustl.edu	37	17	79094681	79094681	+	Nonsense_Mutation	SNP	G	G	A			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr17:79094681G>A	ENST00000326724.4	-	11	3079	c.3055C>T	c.(3055-3057)Cga>Tga	p.R1019*	AATK_ENST00000417379.1_Nonsense_Mutation_p.R916*	NM_001080395.2	NP_001073864.2	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	1019					brain development (GO:0007420)|negative regulation of axon extension (GO:0030517)|neuron apoptotic process (GO:0051402)|peptidyl-tyrosine autophosphorylation (GO:0038083)|Rab protein signal transduction (GO:0032482)	axonal growth cone (GO:0044295)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			CCGGGGGCTCGGTCCCCGCCG	0.672																																																	0													9.0	11.0	10.0					17																	79094681		1856	4075	5931	SO:0001587	stop_gained	0			AB014541	CCDS45807.1, CCDS58607.1	17q25.3	2014-06-12			ENSG00000181409	ENSG00000181409			21	protein-coding gene	gene with protein product	"""lemur tyrosine kinase 1"", ""protein phosphatase 1, regulatory subunit 77"""	605276				9734811, 10083745	Standard	NM_001080395		Approved	AATYK, KIAA0641, LMTK1, LMR1, AATYK1, PPP1R77	uc010dia.3	Q6ZMQ8	OTTHUMG00000132717	ENST00000326724.4:c.3055C>T	17.37:g.79094681G>A	ENSP00000324196:p.Arg1019*		O75136|Q6ZN31|Q86X28	Nonsense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R1019*	ENST00000326724.4	37	c.3055	CCDS45807.1	17	.	.	.	.	.	.	.	.	.	.	G	38	6.969256	0.97971	.	.	ENSG00000181409	ENST00000326724	.	.	.	4.65	-2.51	0.06365	.	5.873580	0.00447	N	0.000085	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	.	1.9235	0.03312	0.335:0.1777:0.3738:0.1135	.	.	.	.	X	1019	.	ENSP00000324196:R1019X	R	-	1	2	AATK	76709276	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	-0.457000	0.06745	0.076000	0.16826	0.462000	0.41574	CGA	AATK	-	NULL	ENSG00000181409		0.672	AATK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AATK	HGNC	protein_coding	OTTHUMT00000256055.1	-	0.00	41	0	G	NM_004920		79094681	-1	tier1	-	no_errors	ENST00000326724	ensembl	human	known	74_37	nonsense	57.14	18	24	SNP	0.000	A
ABCC11	85320	genome.wustl.edu	37	16	48209220	48209220	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr16:48209220G>T	ENST00000394747.1	-	25	3996	c.3647C>A	c.(3646-3648)tCc>tAc	p.S1216Y	ABCC11_ENST00000394748.1_Missense_Mutation_p.S1216Y|ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000356608.2_Missense_Mutation_p.S1216Y|ABCC11_ENST00000353782.5_Missense_Mutation_p.S1216Y	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	1216	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	TGAGAGCTTGGACCGCAAGTC	0.617																																																	0													88.0	69.0	76.0					16																	48209220		2201	4300	6501	SO:0001583	missense	0			AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"""ATP binding cassette transporters / subfamily C"""	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.3647C>A	16.37:g.48209220G>T	ENSP00000378230:p.Ser1216Tyr		Q8TDJ0|Q96JA6|Q9BX80	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.S1216Y	ENST00000394747.1	37	c.3647	CCDS10732.1	16	.	.	.	.	.	.	.	.	.	.	G	17.80	3.477335	0.63849	.	.	ENSG00000121270	ENST00000353782;ENST00000356608;ENST00000394748;ENST00000394747	D;D;D;D	0.94138	-3.36;-3.36;-3.36;-3.36	4.99	2.98	0.34508	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.126361	0.51477	D	0.000087	D	0.95950	0.8681	M	0.85099	2.735	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.77557	0.988;0.99	D	0.94434	0.7652	10	0.87932	D	0	-23.128	6.9656	0.24621	0.0934:0.3394:0.5672:0.0	.	1216;1216	Q96J66-2;Q96J66	.;ABCCB_HUMAN	Y	1216	ENSP00000311326:S1216Y;ENSP00000349017:S1216Y;ENSP00000378231:S1216Y;ENSP00000378230:S1216Y	ENSP00000311326:S1216Y	S	-	2	0	ABCC11	46766721	1.000000	0.71417	0.345000	0.25642	0.981000	0.71138	3.384000	0.52478	0.486000	0.27676	0.591000	0.81541	TCC	ABCC11	-	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	ENSG00000121270		0.617	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ABCC11	HGNC	protein_coding	OTTHUMT00000429984.1	-	0.00	38	0	G	NM_032583		48209220	-1	tier1	-	no_errors	ENST00000356608	ensembl	human	known	74_37	missense	53.45	26	31	SNP	1.000	T
ABCC9	10060	genome.wustl.edu	37	12	22005402	22005402	+	Missense_Mutation	SNP	T	T	C			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr12:22005402T>C	ENST00000261201.4	-	21	2542	c.2543A>G	c.(2542-2544)gAt>gGt	p.D848G	RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000261200.4_Missense_Mutation_p.D848G|ABCC9_ENST00000345162.2_Missense_Mutation_p.D812G	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	848	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	CATTAAATGATCACTCAAGTG	0.408																																																	0													111.0	104.0	106.0					12																	22005402		2203	4300	6503	SO:0001583	missense	0			AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.2543A>G	12.37:g.22005402T>C	ENSP00000261201:p.Asp848Gly		O60707	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_Sulphorea_rcpt,prints_Sulphonylurea_rcpt-2	p.D848G	ENST00000261201.4	37	c.2543	CCDS8694.1	12	.	.	.	.	.	.	.	.	.	.	T	14.75	2.629725	0.46944	.	.	ENSG00000069431	ENST00000261200;ENST00000544039;ENST00000261201;ENST00000345162	D;D;D;D	0.90900	-2.75;-2.75;-2.75;-2.75	4.58	4.58	0.56647	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.116529	0.64402	D	0.000019	T	0.81384	0.4811	N	0.20766	0.605	0.80722	D	1	B;B	0.24963	0.093;0.115	B;B	0.22880	0.042;0.03	T	0.76170	-0.3057	10	0.09843	T	0.71	-19.5617	12.9755	0.58534	0.0:0.0:0.0:1.0	.	848;848	O60706;O60706-2	ABCC9_HUMAN;.	G	848;475;848;812	ENSP00000261200:D848G;ENSP00000440521:D475G;ENSP00000261201:D848G;ENSP00000261202:D812G	ENSP00000261200:D848G	D	-	2	0	ABCC9	21896669	1.000000	0.71417	0.990000	0.47175	0.872000	0.50106	7.532000	0.81985	2.039000	0.60335	0.528000	0.53228	GAT	ABCC9	-	superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	ENSG00000069431		0.408	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	ABCC9	HGNC	protein_coding	OTTHUMT00000402230.1	-	0.00	42	0	T	NM_005691		22005402	-1	tier1	-	no_errors	ENST00000261200	ensembl	human	known	74_37	missense	17.86	46	10	SNP	1.000	C
ACAP2	23527	genome.wustl.edu	37	3	195027311	195027311	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr3:195027311G>A	ENST00000326793.6	-	13	1275	c.1045C>T	c.(1045-1047)Cgc>Tgc	p.R349C		NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	349	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cellular response to nerve growth factor stimulus (GO:1990090)|protein localization to endosome (GO:0036010)|regulation of ARF GTPase activity (GO:0032312)	endosome membrane (GO:0010008)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						CATGCCTGGCGCAGCTTTTCG	0.403																																																	0													149.0	150.0	149.0					3																	195027311		2203	4300	6503	SO:0001583	missense	0				CCDS33924.1	3q29	2013-01-10	2008-09-22	2008-09-22	ENSG00000114331	ENSG00000114331		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16469	protein-coding gene	gene with protein product		607766	"""centaurin, beta 2"""	CENTB2		11050434, 11062263	Standard	NM_012287		Approved	KIAA0041, CNT-B2	uc003fun.4	Q15057	OTTHUMG00000155885	ENST00000326793.6:c.1045C>T	3.37:g.195027311G>A	ENSP00000324287:p.Arg349Cys		A8K2V4|Q8N5Z8|Q9UQR3	Missense_Mutation	SNP	pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP	p.R349C	ENST00000326793.6	37	c.1045	CCDS33924.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.0|22.0	4.235648|4.235648	0.79800|0.79800	.|.	.|.	ENSG00000114331|ENSG00000114331	ENST00000439758|ENST00000326793	.|T	.|0.78003	.|-1.14	5.55|5.55	5.55|5.55	0.83447|0.83447	.|Pleckstrin homology-type (1);Pleckstrin homology domain (3);	.|0.105878	.|0.64402	.|D	.|0.000003	D|D	0.86785|0.86785	0.6016|0.6016	M|M	0.62088|0.62088	1.915|1.915	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	D|D	0.85733|0.85733	0.1332|0.1332	5|10	.|0.42905	.|T	.|0.14	.|.	18.484|18.484	0.90821|0.90821	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|349	.|Q15057	.|ACAP2_HUMAN	V|C	223|349	.|ENSP00000324287:R349C	.|ENSP00000324287:R349C	A|R	-|-	2|1	0|0	ACAP2|ACAP2	196508600|196508600	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	6.501000|6.501000	0.73691|0.73691	2.593000|2.593000	0.87608|0.87608	0.511000|0.511000	0.50034|0.50034	GCG|CGC	ACAP2	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000114331		0.403	ACAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACAP2	HGNC	protein_coding	OTTHUMT00000342126.2	-	0.00	40	0	G	NM_012287		195027311	-1	tier1	-	no_errors	ENST00000326793	ensembl	human	known	74_37	missense	18.97	47	11	SNP	1.000	A
ACSM1	116285	genome.wustl.edu	37	16	20702457	20702457	+	Silent	SNP	G	G	A			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr16:20702457G>A	ENST00000307493.4	-	1	121	c.54C>T	c.(52-54)caC>caT	p.H18H	ACSM1_ENST00000520010.1_Silent_p.H18H|ACSM1_ENST00000219151.4_5'UTR	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	18					benzoate metabolic process (GO:0018874)|butyrate metabolic process (GO:0019605)|cholesterol homeostasis (GO:0042632)|energy derivation by oxidation of organic compounds (GO:0015980)|fatty acid biosynthetic process (GO:0006633)|fatty acid oxidation (GO:0019395)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	blood microparticle (GO:0072562)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	acyl-CoA ligase activity (GO:0003996)|ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty acid ligase activity (GO:0015645)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						GGTGGATGTTGTGGAAGGATT	0.512																																																	0													134.0	140.0	138.0					16																	20702457		2201	4300	6501	SO:0001819	synonymous_variant	0			AB059429	CCDS10587.1	16p12.3	2008-02-05	2005-09-08	2005-09-08	ENSG00000166743	ENSG00000166743	6.2.1.2	"""Acyl-CoA synthetase family"""	18049	protein-coding gene	gene with protein product		614357	"""butyryl Coenzyme A synthetase 1"""	BUCS1		11470804, 12654705	Standard	NM_052956		Approved	MACS1	uc002dhm.1	Q08AH1	OTTHUMG00000131550	ENST00000307493.4:c.54C>T	16.37:g.20702457G>A			Q08AH2|Q96A20	Silent	SNP	pfam_AMP-dep_Synth/Lig	p.H18	ENST00000307493.4	37	c.54	CCDS10587.1	16																																																																																			ACSM1	-	NULL	ENSG00000166743		0.512	ACSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSM1	HGNC	protein_coding	OTTHUMT00000254412.1	-	0.00	117	0	G	NM_052956		20702457	-1	tier1	-	no_errors	ENST00000307493	ensembl	human	known	74_37	silent	37.08	56	33	SNP	0.000	A
ADAMTSL1	92949	genome.wustl.edu	37	9	18795491	18795491	+	Silent	SNP	C	C	T	rs374445427		TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr9:18795491C>T	ENST00000380548.4	+	20	4113	c.3774C>T	c.(3772-3774)taC>taT	p.Y1258Y	ADAMTSL1_ENST00000496521.2_3'UTR	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	1258	Ig-like C2-type 2.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CCTTGGGATACGACTCTGTCT	0.443													C|||	1	0.000199681	0.0008	0.0	5008	,	,		22380	0.0		0.0	False		,,,				2504	0.0																0								C		1,3925		0,1,1962	111.0	109.0	110.0		3774	-1.5	1.0	9		110	1,8299		0,1,4149	no	coding-synonymous	ADAMTSL1	NM_001040272.5		0,2,6111	TT,TC,CC		0.012,0.0255,0.0164		1258/1763	18795491	2,12224	1963	4150	6113	SO:0001819	synonymous_variant	0			AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"""Immunoglobulin superfamily / I-set domain containing"""	14632	protein-coding gene	gene with protein product	"""punctin"""	609198	"""chromosome 9 open reading frame 94"""	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.3774C>T	9.37:g.18795491C>T			A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Silent	SNP	pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom	p.Y1258	ENST00000380548.4	37	c.3774	CCDS47954.1	9																																																																																			ADAMTSL1	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000178031		0.443	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	ADAMTSL1	HGNC	protein_coding	OTTHUMT00000401206.1		0.00	43	0	C			18795491	+1			no_errors	ENST00000380548	ensembl	human	novel	74_37	silent	6.98	40	3	SNP	0.945	T
ADCY8	114	genome.wustl.edu	37	8	132052018	132052018	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr8:132052018G>T	ENST00000286355.5	-	1	2654	c.562C>A	c.(562-564)Ctg>Atg	p.L188M	ADCY8_ENST00000377928.3_Missense_Mutation_p.L188M	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	188					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			AGCACGTCCAGCACGTTCATC	0.587										HNSCC(32;0.087)																																							0													98.0	99.0	98.0					8																	132052018		2203	4300	6503	SO:0001583	missense	0			Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.562C>A	8.37:g.132052018G>T	ENSP00000286355:p.Leu188Met			Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.L188M	ENST00000286355.5	37	c.562	CCDS6363.1	8	.	.	.	.	.	.	.	.	.	.	G	15.25	2.778091	0.49786	.	.	ENSG00000155897	ENST00000286355;ENST00000377928	T;T	0.42513	0.97;0.97	5.15	1.2	0.21068	.	0.099265	0.42682	D	0.000673	T	0.34077	0.0885	L	0.40543	1.245	0.31477	N	0.66764	P;P	0.40476	0.718;0.718	B;B	0.41813	0.367;0.367	T	0.39840	-0.9594	10	0.51188	T	0.08	.	9.8708	0.41172	0.2894:0.0:0.7106:0.0	.	188;188	E7EVL1;P40145	.;ADCY8_HUMAN	M	188	ENSP00000286355:L188M;ENSP00000367161:L188M	ENSP00000286355:L188M	L	-	1	2	ADCY8	132121200	0.997000	0.39634	0.998000	0.56505	0.996000	0.88848	0.971000	0.29396	0.186000	0.20125	0.455000	0.32223	CTG	ADCY8	-	NULL	ENSG00000155897		0.587	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY8	HGNC	protein_coding	OTTHUMT00000380080.1	-	0.00	16	0	G			132052018	-1	tier1	-	no_errors	ENST00000286355	ensembl	human	known	74_37	missense	31.25	22	10	SNP	0.956	T
AFF2	2334	genome.wustl.edu	37	X	148035142	148035142	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chrX:148035142C>T	ENST00000370460.2	+	10	1909	c.1430C>T	c.(1429-1431)gCa>gTa	p.A477V	AFF2_ENST00000286437.5_Missense_Mutation_p.A118V|AFF2_ENST00000370457.5_Missense_Mutation_p.A444V|AFF2_ENST00000342251.3_Missense_Mutation_p.A444V	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	477					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					CCCCCACCTGCAGTGCAAGCC	0.512																																																	0													78.0	81.0	80.0					X																	148035142		2203	4300	6503	SO:0001583	missense	0			U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.1430C>T	X.37:g.148035142C>T	ENSP00000359489:p.Ala477Val		A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	pfam_TF_AF4/FMR2	p.A477V	ENST00000370460.2	37	c.1430	CCDS14684.1	X	.	.	.	.	.	.	.	.	.	.	C	12.58	1.982091	0.34942	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000286437	T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16	5.31	1.99	0.26369	.	0.902629	0.09453	N	0.800144	T	0.47857	0.1468	L	0.36672	1.1	0.09310	N	1	B;B;B;B;B;B	0.06786	0.001;0.001;0.001;0.001;0.001;0.001	B;B;B;B;B;B	0.12156	0.007;0.004;0.004;0.004;0.004;0.007	T	0.32693	-0.9897	10	0.25751	T	0.34	.	5.5372	0.17018	0.0:0.3549:0.0:0.6451	.	118;442;444;438;467;477	B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816	.;.;.;.;.;AFF2_HUMAN	V	477;444;444;118	ENSP00000359489:A477V;ENSP00000359486:A444V;ENSP00000345459:A444V;ENSP00000286437:A118V	ENSP00000286437:A118V	A	+	2	0	AFF2	147842842	0.001000	0.12720	0.001000	0.08648	0.180000	0.23129	0.382000	0.20635	0.408000	0.25621	0.600000	0.82982	GCA	AFF2	-	pfam_TF_AF4/FMR2	ENSG00000155966		0.512	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AFF2	HGNC	protein_coding	OTTHUMT00000058673.2	-	0.00	35	0	C	NM_002025		148035142	+1	tier1	-	no_errors	ENST00000370460	ensembl	human	known	74_37	missense	10.00	36	4	SNP	0.001	T
AHDC1	27245	genome.wustl.edu	37	1	27875978	27875978	+	Silent	SNP	C	C	T			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr1:27875978C>T	ENST00000247087.5	-	5	3245	c.2649G>A	c.(2647-2649)cgG>cgA	p.R883R	AHDC1_ENST00000374011.2_Silent_p.R883R			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	883							DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		TGGCCAGGCCCCGCTGGGCAG	0.697																																																	0													20.0	24.0	23.0					1																	27875978		2201	4293	6494	SO:0001819	synonymous_variant	0			AK125431	CCDS30652.1	1p36.13	2008-02-05			ENSG00000126705	ENSG00000126705			25230	protein-coding gene	gene with protein product		615790				8619474, 9110174	Standard	XM_005245848		Approved	DJ159A19.3, RP1-159A19.1	uc009vsy.3	Q5TGY3	OTTHUMG00000003398	ENST00000247087.5:c.2649G>A	1.37:g.27875978C>T			Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5	Silent	SNP	NULL	p.R883	ENST00000247087.5	37	c.2649	CCDS30652.1	1																																																																																			AHDC1	-	NULL	ENSG00000126705		0.697	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AHDC1	HGNC	protein_coding	OTTHUMT00000009523.3	-	0.00	42	0	C			27875978	-1	tier1	-	no_errors	ENST00000247087	ensembl	human	known	74_37	silent	53.49	20	23	SNP	1.000	T
ALKBH3	221120	genome.wustl.edu	37	11	43904237	43904237	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr11:43904237G>A	ENST00000302708.4	+	2	446	c.35G>A	c.(34-36)gGa>gAa	p.G12E	ALKBH3_ENST00000378840.4_Missense_Mutation_p.G12E|RP11-613D13.5_ENST00000530450.1_RNA	NM_139178.3	NP_631917.1	Q96Q83	ALKB3_HUMAN	alkB, alkylation repair homolog 3 (E. coli)	12					cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA repair (GO:0006281)|oxidative single-stranded DNA demethylation (GO:0035552)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA-N1-methyladenine dioxygenase activity (GO:0043734)|ferrous iron binding (GO:0008198)|L-ascorbic acid binding (GO:0031418)			endometrium(2)|kidney(1)|lung(4)|prostate(1)	8					Vitamin C(DB00126)	CGAGTTCAGGGAGCCTGGGCT	0.488								Direct reversal of damage																																									0													49.0	52.0	51.0					11																	43904237		2203	4300	6503	SO:0001583	missense	0			AB042029	CCDS7906.1	11p11.2	2013-10-11			ENSG00000166199	ENSG00000166199		"""Alkylation repair homologs"""	30141	protein-coding gene	gene with protein product		610603				22055184	Standard	NM_139178		Approved	DEPC-1	uc001mxs.2	Q96Q83	OTTHUMG00000166417	ENST00000302708.4:c.35G>A	11.37:g.43904237G>A	ENSP00000302232:p.Gly12Glu		A6NDJ1|Q3SYI0|Q6NX57|Q96BU8	Missense_Mutation	SNP	pfam_Oxoglu/Fe-dep_dioxygenase	p.G12E	ENST00000302708.4	37	c.35	CCDS7906.1	11	.	.	.	.	.	.	.	.	.	.	G	24.7	4.563803	0.86335	.	.	ENSG00000166199	ENST00000302708;ENST00000378840;ENST00000524742;ENST00000529366	T;T	0.73575	0.7;-0.76	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.81143	0.4761	M	0.82630	2.6	0.50632	D	0.999883	D	0.55172	0.97	P	0.48815	0.591	D	0.84690	0.0722	10	0.87932	D	0	-25.7743	14.9952	0.71425	0.0:0.0:1.0:0.0	.	12	Q96Q83	ALKB3_HUMAN	E	12	ENSP00000302232:G12E;ENSP00000435848:G12E	ENSP00000302232:G12E	G	+	2	0	ALKBH3	43860813	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.826000	0.62715	2.678000	0.91216	0.650000	0.86243	GGA	ALKBH3	-	NULL	ENSG00000166199		0.488	ALKBH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALKBH3	HGNC	protein_coding	OTTHUMT00000389693.1	-	0.00	26	0	G	NM_139178		43904237	+1	tier1	-	no_errors	ENST00000302708	ensembl	human	known	74_37	missense	80.00	3	12	SNP	1.000	A
ALMS1	7840	genome.wustl.edu	37	2	73613031	73613032	+	In_Frame_Ins	INS	-	-	GGA	rs55889738|rs72319667|rs200709146|rs61156725|rs70965731|rs193922695|rs3074417	byFrequency	TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr2:73613031_73613032insGGA	ENST00000264448.6	+	1	146_147	c.35_36insGGA	c.(34-39)ctggag>ctGGAggag	p.28_29insE	ALMS1_ENST00000409009.1_In_Frame_Ins_p.28_29insE|ALMS1_ENST00000377715.1_In_Frame_Ins_p.28_29insE	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	28	Glu-rich.				endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)		p.E27_E28delEE(1)|p.E28_A29insE(1)		breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CCGGGCGAGCTggaggaggagg	0.698																																																	2	Insertion - In frame(1)|Deletion - In frame(1)	ovary(1)|breast(1)																																								SO:0001652	inframe_insertion	0			AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.72_74dupGGA	2.37:g.73613038_73613040dupGGA	ENSP00000264448:p.Glu28_Glu28dup		Q53S05|Q580Q8|Q86VP9|Q9Y4G4	In_Frame_Ins	INS	NULL	p.16in_frame_insE	ENST00000264448.6	37	c.35_36	CCDS42697.1	2																																																																																			ALMS1	-	NULL	ENSG00000116127		0.698	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ALMS1	HGNC	protein_coding	OTTHUMT00000327776.1		0.00	20	0	-	NM_015120		73613032	+1	tier1		no_errors	ENST00000264448	ensembl	human	known	74_37	in_frame_ins	22.22	21	6	INS	0.999:0.989	GGA
ALMS1	7840	genome.wustl.edu	37	2	73827964	73827964	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr2:73827964C>T	ENST00000264448.6	+	18	11936	c.11825C>T	c.(11824-11826)cCt>cTt	p.P3942L	ALMS1_ENST00000464408.2_3'UTR|ALMS1_ENST00000409009.1_Missense_Mutation_p.P3900L	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3942					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						ACCGGTTATCCTGAGGACAGA	0.403																																																	0													93.0	93.0	93.0					2																	73827964		2203	4300	6503	SO:0001583	missense	0			AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.11825C>T	2.37:g.73827964C>T	ENSP00000264448:p.Pro3942Leu		Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	NULL	p.P3942L	ENST00000264448.6	37	c.11825	CCDS42697.1	2	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.213971	0.00289	.	.	ENSG00000116127	ENST00000409009;ENST00000264448	T;T	0.04706	3.57;3.57	5.3	-2.1	0.07210	.	1.041610	0.07590	N	0.921771	T	0.01454	0.0047	N	0.02916	-0.46	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.44112	-0.9349	10	0.02654	T	1	.	1.3395	0.02151	0.1593:0.3603:0.163:0.3174	.	3900;3942	B8ZZJ3;Q8TCU4	.;ALMS1_HUMAN	L	3900;3942	ENSP00000386627:P3900L;ENSP00000264448:P3942L	ENSP00000264448:P3942L	P	+	2	0	ALMS1	73681472	0.000000	0.05858	0.000000	0.03702	0.034000	0.12701	-0.379000	0.07437	-0.476000	0.06842	0.650000	0.86243	CCT	ALMS1	-	NULL	ENSG00000116127		0.403	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ALMS1	HGNC	protein_coding	OTTHUMT00000327776.1	-	0.00	39	0	C	NM_015120		73827964	+1	tier1	-	no_errors	ENST00000264448	ensembl	human	known	74_37	missense	25.00	27	9	SNP	0.000	T
ALS2CR11	151254	genome.wustl.edu	37	2	202358876	202358877	+	Intron	INS	-	-	T	rs376868287		TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr2:202358876_202358877insT	ENST00000286195.3	-	14	1626				ALS2CR11_ENST00000439140.1_Frame_Shift_Ins_p.Q730fs|ALS2CR11_ENST00000439802.1_Intron|ALS2CR11_ENST00000482942.1_Intron	NM_152525.5	NP_689738.3	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11											NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						TTTAAATCTTGTTTTTTTTCCA	0.297																																																	0																																										SO:0001627	intron_variant	0			AB053313	CCDS2349.1, CCDS54430.1, CCDS54428.1, CCDS54429.1	2q33	2007-12-07			ENSG00000155754	ENSG00000155754			14438	protein-coding gene	gene with protein product						11586298	Standard	NM_152525		Approved	FLJ25351	uc002uyf.3	Q53TS8	OTTHUMG00000132830	ENST00000286195.3:c.1581+1740->A	2.37:g.202358884_202358884dupT			C9IZH7|E9PGG4|Q8NCN6|Q96LN4	Frame_Shift_Ins	INS	superfamily_C2_dom	p.Q729fs	ENST00000286195.3	37	c.2188_2187	CCDS2349.1	2																																																																																			ALS2CR11	-	NULL	ENSG00000155754		0.297	ALS2CR11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ALS2CR11	HGNC	protein_coding	OTTHUMT00000256296.2		0.00	48	0	-	NM_152525		202358877	-1	tier1		no_errors	ENST00000439140	ensembl	human	novel	74_37	frame_shift_ins	5.88	32	2	INS	0.578:0.000	T
ANKRD30B	374860	genome.wustl.edu	37	18	14778005	14778005	+	Missense_Mutation	SNP	C	C	G			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr18:14778005C>G	ENST00000358984.4	+	10	1531	c.1351C>G	c.(1351-1353)Cag>Gag	p.Q451E	ANKRD30B_ENST00000447268.2_Missense_Mutation_p.Q451E|ANKRD30B_ENST00000579292.1_Intron	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	451										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						GAGTGCTGCACAGAATTATAC	0.289																																																	0													109.0	96.0	100.0					18																	14778005		692	1591	2283	SO:0001583	missense	0			BC028407	CCDS54182.1	18p11.21	2013-01-10			ENSG00000180777	ENSG00000180777		"""Ankyrin repeat domain containing"""	24165	protein-coding gene	gene with protein product						11280766	Standard	NM_001145029		Approved	NY-BR-1.1	uc010dlo.2	Q9BXX2		ENST00000358984.4:c.1351C>G	18.37:g.14778005C>G	ENSP00000351875:p.Gln451Glu		B4DGP1|F8WAG3|Q4G175	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.Q451E	ENST00000358984.4	37	c.1351	CCDS54182.1	18	.	.	.	.	.	.	.	.	.	.	N	0.273	-0.991268	0.02162	.	.	ENSG00000180777	ENST00000358984;ENST00000447268	T;T	0.31769	3.39;1.48	1.01	-0.0246	0.13938	.	.	.	.	.	T	0.11239	0.0274	N	0.08118	0	0.09310	N	1	B	0.30584	0.286	B	0.25506	0.061	T	0.29912	-0.9996	9	0.15066	T	0.55	.	4.1574	0.10266	0.4004:0.5996:0.0:0.0	.	451	F8WAG3	.	E	451	ENSP00000351875:Q451E;ENSP00000399031:Q451E	ENSP00000351875:Q451E	Q	+	1	0	ANKRD30B	14768005	0.012000	0.17670	0.005000	0.12908	0.008000	0.06430	-0.903000	0.04084	-0.001000	0.14495	0.375000	0.23000	CAG	ANKRD30B	-	NULL	ENSG00000180777		0.289	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD30B	HGNC	protein_coding	OTTHUMT00000443557.1	-	0.00	17	0	C	NM_001145029		14778005	+1	tier1	-	no_errors	ENST00000358984	ensembl	human	known	74_37	missense	54.55	10	12	SNP	0.006	G
ANXA2R	389289	genome.wustl.edu	37	5	43039891	43039891	+	Silent	SNP	C	C	T			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr5:43039891C>T	ENST00000314890.3	-	2	1677	c.258G>A	c.(256-258)gcG>gcA	p.A86A	AC025171.1_ENST00000505541.1_RNA|AC025171.1_ENST00000451894.2_RNA	NM_001014279.2	NP_001014301.1	Q3ZCQ2	AX2R_HUMAN	annexin A2 receptor	86																	CAGTGGGCTTCGCTGTACTTG	0.602											OREG0016598	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													94.0	97.0	96.0					5																	43039891		2203	4300	6503	SO:0001819	synonymous_variant	0			BC067873	CCDS34153.1	5p12	2013-08-14	2012-03-09	2012-03-09	ENSG00000177721	ENSG00000177721			33463	protein-coding gene	gene with protein product		611296	"""chromosome 5 open reading frame 39"""	C5orf39		16895901, 18636554	Standard	NM_001014279		Approved	AXIIR	uc003jnf.3	Q3ZCQ2	OTTHUMG00000162232	ENST00000314890.3:c.258G>A	5.37:g.43039891C>T		913	Q8NHX5	Silent	SNP	NULL	p.A86	ENST00000314890.3	37	c.258	CCDS34153.1	5																																																																																			ANXA2R	-	NULL	ENSG00000177721		0.602	ANXA2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANXA2R	HGNC	protein_coding	OTTHUMT00000368030.1	-	0.00	61	0	C	NM_001014279		43039891	-1	tier1	-	no_errors	ENST00000314890	ensembl	human	known	74_37	silent	34.92	41	22	SNP	0.000	T
AP3M2	10947	genome.wustl.edu	37	8	42025256	42025256	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr8:42025256G>T	ENST00000518421.1	+	9	1375	c.1084G>T	c.(1084-1086)Gct>Tct	p.A362S	AP3M2_ENST00000520685.1_3'UTR|AP3M2_ENST00000174653.3_Missense_Mutation_p.A362S|AP3M2_ENST00000396926.3_Missense_Mutation_p.A362S	NM_001134296.1	NP_001127768.1	P53677	AP3M2_HUMAN	adaptor-related protein complex 3, mu 2 subunit	362	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|intracellular protein transport (GO:0006886)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)				endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)|stomach(1)	17	all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)			GAGTCTTCAGGCTGGAGCTTC	0.443																																																	0													154.0	156.0	155.0					8																	42025256		2203	4300	6503	SO:0001583	missense	0			D38293	CCDS6125.1	8p11.2	2008-07-07			ENSG00000070718	ENSG00000070718			570	protein-coding gene	gene with protein product		610469				7601449	Standard	NM_006803		Approved	CLA20, AP47B	uc003xoo.3	P53677	OTTHUMG00000164060	ENST00000518421.1:c.1084G>T	8.37:g.42025256G>T	ENSP00000428787:p.Ala362Ser		B2RCR0|D3DSY2|Q7Z472	Missense_Mutation	SNP	pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C,prints_Clathrin_mu	p.A362S	ENST00000518421.1	37	c.1084	CCDS6125.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.135|7.135	0.580730|0.580730	0.13686|0.13686	.|.	.|.	ENSG00000070718|ENSG00000070718	ENST00000518421;ENST00000174653;ENST00000396926;ENST00000521280|ENST00000522606	T;T;T;T|.	0.15603|.	2.41;2.41;2.41;2.41|.	5.73|5.73	4.85|4.85	0.62838|0.62838	Clathrin adaptor, mu subunit, C-terminal (3);|.	0.102248|.	0.64402|.	D|.	0.000003|.	T|T	0.25531|0.25531	0.0621|0.0621	N|N	0.01009|0.01009	-1.055|-1.055	0.48185|0.48185	D|D	0.999609|0.999609	B|.	0.06786|.	0.001|.	B|.	0.14023|.	0.01|.	T|T	0.20472|0.20472	-1.0274|-1.0274	10|5	0.02654|.	T|.	1|.	-9.6563|-9.6563	14.9022|14.9022	0.70687|0.70687	0.0688:0.0:0.9312:0.0|0.0688:0.0:0.9312:0.0	.|.	362|.	P53677|.	AP3M2_HUMAN|.	S|S	362;362;362;247|52	ENSP00000428787:A362S;ENSP00000174653:A362S;ENSP00000380132:A362S;ENSP00000430616:A247S|.	ENSP00000174653:A362S|.	A|R	+|+	1|3	0|2	AP3M2|AP3M2	42144413|42144413	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	5.237000|5.237000	0.65360|0.65360	1.420000|1.420000	0.47138|0.47138	-0.157000|-0.157000	0.13467|0.13467	GCT|AGG	AP3M2	-	pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C	ENSG00000070718		0.443	AP3M2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	AP3M2	HGNC	protein_coding	OTTHUMT00000376996.1		0.00	20	0	G			42025256	+1			no_errors	ENST00000174653	ensembl	human	known	74_37	missense	5.80	65	4	SNP	1.000	T
APOBR	55911	genome.wustl.edu	37	16	28507417	28507417	+	Intron	SNP	A	A	G	rs148114931|rs365499		TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr16:28507417A>G	ENST00000431282.1	+	2	1058				CLN3_ENST00000569430.1_5'Flank|APOBR_ENST00000564831.1_Missense_Mutation_p.E352G|CLN3_ENST00000567160.1_5'Flank|APOBR_ENST00000328423.5_Intron			Q0VD83	APOBR_HUMAN	apolipoprotein B receptor						cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|triglyceride metabolic process (GO:0006641)	chylomicron (GO:0042627)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						TCAGGAGGGGAGGAGGCCGGG	0.706																																																	0													8.0	11.0	10.0					16																	28507417		1855	4001	5856	SO:0001627	intron_variant	0			AK025123	CCDS58442.1	16p11.2	2011-02-14			ENSG00000184730	ENSG00000184730			24087	protein-coding gene	gene with protein product	"""apolipoprotein B48 receptor"", ""apolipoprotein B100 receptor"""	605220				10852956	Standard	NM_018690		Approved	APOB48R, APOB100R	uc002dqb.2	Q0VD83		ENST00000431282.1:c.1048+7A>G	16.37:g.28507417A>G			H3BU97|Q0VD81|Q8NC15|Q9NPJ9	Missense_Mutation	SNP	NULL	p.E352G	ENST00000431282.1	37	c.1055		16																																																																																			APOBR	-	NULL	ENSG00000184730		0.706	APOBR-202	KNOWN	basic|appris_candidate	protein_coding	APOBR	HGNC	protein_coding		-	0.00	27	0	A	NM_182804		28507417	+1	tier1	rs365499	no_errors	ENST00000564831	ensembl	human	known	74_37	missense	28.57	15	6	SNP	0.010	G
ATP2C1	27032	genome.wustl.edu	37	3	130716559	130716559	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr3:130716559A>G	ENST00000510168.1	+	25	2903	c.2353A>G	c.(2353-2355)Atc>Gtc	p.I785V	ATP2C1_ENST00000328560.8_Missense_Mutation_p.I785V|ATP2C1_ENST00000393221.4_Missense_Mutation_p.I819V|ATP2C1_ENST00000513801.1_Missense_Mutation_p.I769V|ATP2C1_ENST00000504381.1_Missense_Mutation_p.I730V|ATP2C1_ENST00000428331.2_Missense_Mutation_p.I785V|ATP2C1_ENST00000504948.1_Missense_Mutation_p.I769V|ATP2C1_ENST00000533801.2_Missense_Mutation_p.I780V|ATP2C1_ENST00000505330.1_Missense_Mutation_p.I769V|ATP2C1_ENST00000508532.1_Missense_Mutation_p.I785V|ATP2C1_ENST00000507488.2_Missense_Mutation_p.I769V|ATP2C1_ENST00000422190.2_Missense_Mutation_p.I785V|ATP2C1_ENST00000359644.3_Missense_Mutation_p.I785V			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	785					actin cytoskeleton reorganization (GO:0031532)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cellular calcium ion homeostasis (GO:0006874)|cellular manganese ion homeostasis (GO:0030026)|epidermis development (GO:0008544)|Golgi calcium ion homeostasis (GO:0032468)|Golgi calcium ion transport (GO:0032472)|ion transmembrane transport (GO:0034220)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|manganese ion binding (GO:0030145)|manganese-transporting ATPase activity (GO:0015410)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TTCATCAATAATCATTGTTTG	0.358									Hailey-Hailey disease																												Esophageal Squamous(99;456 1443 27647 34099 42636)												0													171.0	177.0	175.0					3																	130716559		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	HHD, Familial Benign Chronic Pemphigus, Benign Familial Pemphigus	AF181120	CCDS33856.1, CCDS46912.1, CCDS46913.1, CCDS46914.1, CCDS56278.1, CCDS56279.1, CCDS56280.1, CCDS56281.1, CCDS75006.1	3q21.3	2012-10-22			ENSG00000017260	ENSG00000017260	3.6.3.8	"""ATPases / P-type"""	13211	protein-coding gene	gene with protein product	"""secretory pathway Ca2+/Mn2+ ATPase 1"", ""calcium-transporting ATPase type 2C member 1"""	604384	"""benign chronic pemphigus (Hailey-Hailey disease)"""	BCPM		10615129, 10767338	Standard	NM_001001485		Approved	KIAA1347, ATP2C1A, PMR1, SPCA1	uc011bli.2	P98194	OTTHUMG00000136802	ENST00000510168.1:c.2353A>G	3.37:g.130716559A>G	ENSP00000427461:p.Ile785Val		B2RAT7|B4DSW3|B7Z3X9|G3XAH8|G8JLN9|O76005|Q86V72|Q86V73|Q8N6V1|Q8NCJ7	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_PMR1,tigrfam_Cation_transp_P_typ_ATPase	p.I819V	ENST00000510168.1	37	c.2455	CCDS46914.1	3	.	.	.	.	.	.	.	.	.	.	A	14.89	2.671238	0.47781	.	.	ENSG00000017260	ENST00000505330;ENST00000504381;ENST00000507488;ENST00000393221;ENST00000533801;ENST00000510168;ENST00000508532;ENST00000504948;ENST00000513801;ENST00000328560;ENST00000428331;ENST00000359644;ENST00000422190;ENST00000347421	D;D;D;D;D;D;D;D;D;D;D;D;D	0.95690	-3.78;-3.78;-3.78;-3.78;-3.78;-3.78;-3.78;-3.78;-3.78;-3.78;-3.78;-3.78;-3.78	5.73	5.73	0.89815	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.048701	0.85682	D	0.000000	D	0.91616	0.7351	L	0.27053	0.805	0.80722	D	1	B;B;B;B;B;B;B	0.28026	0.165;0.198;0.106;0.165;0.106;0.065;0.198	B;B;B;B;B;B;B	0.31016	0.075;0.123;0.085;0.075;0.085;0.044;0.074	D	0.89127	0.3507	10	0.22706	T	0.39	.	16.0172	0.80450	1.0:0.0:0.0:0.0	.	819;780;819;785;819;785;785	G3XAH8;B4DSW3;B4E2Q0;P98194-5;B7Z3X9;P98194-2;P98194	.;.;.;.;.;.;AT2C1_HUMAN	V	769;730;769;819;780;785;785;769;769;785;785;785;785;784	ENSP00000423774:I769V;ENSP00000425320:I730V;ENSP00000421326:I769V;ENSP00000376914:I819V;ENSP00000432956:I780V;ENSP00000427461:I785V;ENSP00000424783:I785V;ENSP00000423330:I769V;ENSP00000422872:I769V;ENSP00000329664:I785V;ENSP00000395809:I785V;ENSP00000352665:I785V;ENSP00000402677:I785V	ENSP00000329664:I785V	I	+	1	0	ATP2C1	132199249	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.301000	0.72782	2.185000	0.69588	0.454000	0.30748	ATC	ATP2C1	-	pfam_ATPase_P-typ_cation-transptr_C,tigrfam_ATPase_P-typ_Ca-transp_PMR1	ENSG00000017260		0.358	ATP2C1-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ATP2C1	HGNC	protein_coding	OTTHUMT00000356648.2	-	0.00	82	0	A	NM_001001486		130716559	+1	tier1	-	no_errors	ENST00000393221	ensembl	human	known	74_37	missense	48.35	47	44	SNP	1.000	G
BBS5	129880	genome.wustl.edu	37	2	170350315	170350315	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr2:170350315G>T	ENST00000295240.3	+	7	963	c.587G>T	c.(586-588)aGt>aTt	p.S196I	BBS5_ENST00000392663.2_Missense_Mutation_p.S196I|BBS5_ENST00000554017.1_Missense_Mutation_p.S196I|RP11-724O16.1_ENST00000513963.1_Missense_Mutation_p.S196I	NM_152384.2	NP_689597.1	Q8N3I7	BBS5_HUMAN	Bardet-Biedl syndrome 5	196					cilium assembly (GO:0042384)|heart looping (GO:0001947)|melanosome transport (GO:0032402)|motile cilium assembly (GO:0044458)|protein transport (GO:0015031)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	BBSome (GO:0034464)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphatidylinositol-3-phosphate binding (GO:0032266)|RNA polymerase II repressing transcription factor binding (GO:0001103)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						ATGAATGATAGTTTTAATGTC	0.274									Bardet-Biedl syndrome																																								0													131.0	132.0	132.0					2																	170350315		2203	4296	6499	SO:0001583	missense	0	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AY604003	CCDS2233.1	2q31	2011-08-02			ENSG00000163093	ENSG00000163093			970	protein-coding gene	gene with protein product		603650				9888993, 10053027	Standard	NM_152384		Approved	DKFZp762I194		Q8N3I7	OTTHUMG00000132207	ENST00000295240.3:c.587G>T	2.37:g.170350315G>T	ENSP00000295240:p.Ser196Ile		D3DPC3|Q6PKN0	Missense_Mutation	SNP	pfam_BBL5,pfam_Kelch_1,smart_DM16_repeat,smart_Kelch_1	p.S196I	ENST00000295240.3	37	c.587	CCDS2233.1	2	.	.	.	.	.	.	.	.	.	.	G	21.3	4.128518	0.77549	.	.	ENSG00000163093;ENSG00000163093;ENSG00000163093;ENSG00000251569	ENST00000295240;ENST00000554017;ENST00000392663;ENST00000513963	T;T;T;T	0.75260	1.14;1.14;-0.92;1.14	5.8	3.98	0.46160	.	0.071597	0.85682	D	0.000000	T	0.77778	0.4181	M	0.72894	2.215	0.80722	D	1	P;D;D	0.54772	0.942;0.96;0.968	P;P;P	0.51385	0.668;0.504;0.637	T	0.76239	-0.3032	10	0.27082	T	0.32	-13.0235	12.6521	0.56768	0.1352:0.0:0.8648:0.0	.	196;196;196	E9PBE3;Q8N3I7-2;Q8N3I7	.;.;BBS5_HUMAN	I	196	ENSP00000295240:S196I;ENSP00000452313:S196I;ENSP00000376431:S196I;ENSP00000424363:S196I	ENSP00000295240:S196I	S	+	2	0	BBS5;RP11-724O16.1	170058561	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.771000	0.74996	1.464000	0.47987	0.561000	0.74099	AGT	BBS5	-	pfam_BBL5,smart_DM16_repeat	ENSG00000163093		0.274	BBS5-001	KNOWN	basic|CCDS	protein_coding	BBS5	HGNC	protein_coding	OTTHUMT00000255265.2	-	0.00	65	0	G	NM_152384		170350315	+1	tier1	-	no_errors	ENST00000554017	ensembl	human	known	74_37	missense	10.42	43	5	SNP	1.000	T
MALRD1	340895	genome.wustl.edu	37	10	19493307	19493307	+	Silent	SNP	C	C	T			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr10:19493307C>T	ENST00000454679.2	+	1	63	c.63C>T	c.(61-63)ttC>ttT	p.F21F				Q5VYJ5	MALR1_HUMAN		21	MAM 1. {ECO:0000255|PROSITE- ProRule:PRU00128}.				cholesterol homeostasis (GO:0042632)|negative regulation of bile acid biosynthetic process (GO:0070858)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				breast(1)|lung(2)	3						GCCCAACTTTCAGCCAGACAG	0.378																																																	0																																										SO:0001819	synonymous_variant	0																														ENST00000454679.2:c.63C>T	10.37:g.19493307C>T			B7ZBP2	Silent	SNP	pfam_MAM_dom,pfam_LDrepeatLR_classA_rpt,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_MAM_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,prints_LDrepeatLR_classA_rpt,prints_MAM_dom	p.F21	ENST00000454679.2	37	c.63		10																																																																																			C10orf112	-	pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,pfscan_MAM_dom	ENSG00000204740		0.378	C10orf112-201	KNOWN	basic|appris_principal	protein_coding	C10orf112	HGNC	protein_coding		-	0.00	50	0	C			19493307	+1	tier1	-	no_errors	ENST00000454679	ensembl	human	known	74_37	silent	26.53	36	13	SNP	0.998	T
C14orf37	145407	genome.wustl.edu	37	14	58604975	58604975	+	Missense_Mutation	SNP	C	C	A			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr14:58604975C>A	ENST00000267485.7	-	2	1296	c.1102G>T	c.(1102-1104)Ggg>Tgg	p.G368W	C14orf37_ENST00000334342.5_5'UTR	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	368						integral component of membrane (GO:0016021)				breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						TCAGGCAGCCCCAGAGCCACC	0.552																																																	0													140.0	139.0	139.0					14																	58604975		2203	4300	6503	SO:0001583	missense	0				CCDS32089.1	14q23.1	2012-09-03			ENSG00000139971	ENSG00000139971			19846	protein-coding gene	gene with protein product							Standard	NM_001001872		Approved		uc001xdc.3	Q86TY3	OTTHUMG00000171173	ENST00000267485.7:c.1102G>T	14.37:g.58604975C>A	ENSP00000267485:p.Gly368Trp		A8K8Z8|Q6P5Q1|Q86TY1	Missense_Mutation	SNP	NULL	p.G368W	ENST00000267485.7	37	c.1102	CCDS32089.1	14	.	.	.	.	.	.	.	.	.	.	C	17.14	3.312196	0.60414	.	.	ENSG00000139971	ENST00000267485;ENST00000438670	T	0.25579	1.79	5.97	4.14	0.48551	.	0.248529	0.35805	N	0.002965	T	0.42337	0.1198	L	0.55481	1.735	0.09310	N	1	D;D;D;D	0.76494	0.989;0.999;0.989;0.989	D;D;D;D	0.76575	0.955;0.988;0.955;0.955	T	0.19289	-1.0310	10	0.62326	D	0.03	-8.2942	9.1068	0.36703	0.0:0.827:0.0:0.173	.	406;368;368;368	B4DMS4;Q86TY3-2;A8K990;Q86TY3	.;.;.;CN037_HUMAN	W	368;406	ENSP00000267485:G368W	ENSP00000267485:G368W	G	-	1	0	C14orf37	57674728	0.000000	0.05858	0.530000	0.27963	0.089000	0.18198	0.524000	0.22940	0.837000	0.34925	0.655000	0.94253	GGG	C14orf37	-	NULL	ENSG00000139971		0.552	C14orf37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C14orf37	HGNC	protein_coding	OTTHUMT00000412059.1	-	0.00	41	0	C	NM_001001872		58604975	-1	tier1	-	no_errors	ENST00000267485	ensembl	human	known	74_37	missense	44.44	30	24	SNP	0.068	A
C5orf42	65250	genome.wustl.edu	37	5	37139474	37139475	+	Splice_Site	INS	-	-	A	rs34646696	byFrequency	TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr5:37139474_37139475insA	ENST00000508244.1	-	43	8564		c.e43-2		C5orf42_ENST00000274258.7_Splice_Site|C5orf42_ENST00000425232.2_Splice_Site|C5orf42_ENST00000512288.1_Splice_Site			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42							integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TATTCATACCtaaaaaaaaaat	0.218																																																	0																																										SO:0001630	splice_region_variant	0				CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.8471-2->T	5.37:g.37139484_37139484dupA			A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Splice_Site	INS	-	e43-2	ENST00000508244.1	37	c.8471-3_8471-2	CCDS34146.2	5																																																																																			C5orf42	-	-	ENSG00000197603		0.218	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	C5orf42	HGNC	protein_coding	OTTHUMT00000360806.1		0.00	45	0	-	NM_023073	Intron	37139475	-1	tier1		no_errors	ENST00000425232	ensembl	human	known	74_37	splice_site_ins	11.11	32	4	INS	0.993:0.043	A
C6orf201	404220	genome.wustl.edu	37	6	4099372	4099372	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr6:4099372A>G	ENST00000380175.4	+	3	989	c.224A>G	c.(223-225)aAg>aGg	p.K75R	C6orf201_ENST00000360378.6_3'UTR|C6orf201_ENST00000333388.5_Missense_Mutation_p.K78R|C6orf201_ENST00000430835.2_Missense_Mutation_p.K75R	NM_001085401.2	NP_001078870.1	Q7Z4U5	CF201_HUMAN	chromosome 6 open reading frame 201	75										central_nervous_system(1)|endometrium(3)|lung(2)	6	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				GACGGGTGGAAGAAATGTCAC	0.418																																																	0													98.0	91.0	93.0					6																	4099372		1863	4104	5967	SO:0001583	missense	0			BC047663	CCDS43419.1	6p25.2	2012-02-21			ENSG00000185689	ENSG00000185689			21620	protein-coding gene	gene with protein product							Standard	NM_001085401		Approved	dJ1013A10.5	uc003mwa.4	Q7Z4U5	OTTHUMG00000014160	ENST00000380175.4:c.224A>G	6.37:g.4099372A>G	ENSP00000420610:p.Lys75Arg		A6NLI6|Q6NXN5	Missense_Mutation	SNP	NULL	p.K78R	ENST00000380175.4	37	c.233	CCDS43419.1	6	.	.	.	.	.	.	.	.	.	.	A	17.39	3.376640	0.61735	.	.	ENSG00000185689	ENST00000333388;ENST00000541127;ENST00000380175;ENST00000427996;ENST00000451679;ENST00000436110;ENST00000430835	T;T;T;T;T;T	0.30714	1.52;1.52;1.52;1.52;1.52;1.52	4.76	0.955	0.19602	.	0.160855	0.29466	N	0.012076	T	0.06462	0.0166	L	0.32530	0.975	0.19945	N	0.999946	B;P	0.35348	0.194;0.496	B;B	0.34489	0.107;0.184	T	0.20638	-1.0269	10	0.44086	T	0.13	.	1.1833	0.01849	0.5126:0.1967:0.1017:0.1889	.	75;75	B4DXB2;Q7Z4U5	.;CF201_HUMAN	R	78;75;75;78;75;75;75	ENSP00000330777:K78R;ENSP00000420610:K75R;ENSP00000419568:K78R;ENSP00000420763:K75R;ENSP00000417981:K75R;ENSP00000396912:K75R	ENSP00000330777:K78R	K	+	2	0	C6orf201	4044371	0.959000	0.32827	0.356000	0.25785	0.070000	0.16714	1.487000	0.35540	0.325000	0.23359	0.528000	0.53228	AAG	C6orf201	-	NULL	ENSG00000185689		0.418	C6orf201-001	KNOWN	NMD_exception|basic|appris_candidate|exp_conf|CCDS	protein_coding	C6orf201	HGNC	protein_coding	OTTHUMT00000314019.2	-	0.00	55	0	A	NM_001085401		4099372	+1	tier1	-	no_errors	ENST00000333388	ensembl	human	known	74_37	missense	72.22	10	26	SNP	0.255	G
CACNA1H	8912	genome.wustl.edu	37	16	1261734	1261734	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr16:1261734G>T	ENST00000348261.5	+	24	4743	c.4495G>T	c.(4495-4497)Gtg>Ttg	p.V1499L	CACNA1H_ENST00000358590.4_Missense_Mutation_p.V1499L|CACNA1H_ENST00000565831.1_Missense_Mutation_p.V1499L	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1499					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)	p.V1499M(1)		breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	GTCGCTGTTCGTGCTGTCATC	0.657																																																	1	Substitution - Missense(1)	central_nervous_system(1)											61.0	65.0	64.0					16																	1261734		2103	4224	6327	SO:0001583	missense	0			AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.4495G>T	16.37:g.1261734G>T	ENSP00000334198:p.Val1499Leu		B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_PKD_2	p.V1499L	ENST00000348261.5	37	c.4495	CCDS45375.1	16	.	.	.	.	.	.	.	.	.	.	G	19.33	3.807106	0.70797	.	.	ENSG00000196557	ENST00000348261;ENST00000358590	D;D	0.97959	-4.63;-4.63	4.49	4.49	0.54785	Ion transport (1);	0.065702	0.64402	D	0.000012	D	0.98476	0.9492	M	0.75615	2.305	0.50813	D	0.999893	D;D;D;P;P	0.89917	1.0;0.998;0.998;0.937;0.903	D;D;D;P;P	0.79108	0.982;0.992;0.961;0.833;0.896	D	0.99486	1.0949	10	0.87932	D	0	.	16.6839	0.85300	0.0:0.0:1.0:0.0	.	240;240;240;1499;1499	A2SX38;A2SX35;A2SX37;O95180-2;O95180	.;.;.;.;CAC1H_HUMAN	L	1499	ENSP00000334198:V1499L;ENSP00000351401:V1499L	ENSP00000334198:V1499L	V	+	1	0	CACNA1H	1201735	1.000000	0.71417	1.000000	0.80357	0.061000	0.15899	9.341000	0.97041	2.486000	0.83907	0.491000	0.48974	GTG	CACNA1H	-	pfam_Ion_trans_dom	ENSG00000196557		0.657	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	CACNA1H	HGNC	protein_coding	OTTHUMT00000421601.1		0.00	32	0	G	NM_001005407		1261734	+1			no_errors	ENST00000348261	ensembl	human	known	74_37	missense	8.70	21	2	SNP	1.000	T
CACNG5	27091	genome.wustl.edu	37	17	64876781	64876781	+	Missense_Mutation	SNP	G	G	C			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr17:64876781G>C	ENST00000533854.1	+	4	628	c.391G>C	c.(391-393)Gcc>Ccc	p.A131P	CACNG5_ENST00000307139.3_Missense_Mutation_p.A131P|CACNG5_ENST00000169565.3_Missense_Mutation_p.A131P			Q9UF02	CCG5_HUMAN	calcium channel, voltage-dependent, gamma subunit 5	131					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ion transmembrane transporter activity (GO:0015075)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			GACGATACTGGCCTTTGTCTC	0.448																																																	0													256.0	223.0	234.0					17																	64876781		2203	4300	6503	SO:0001583	missense	0			AF148220	CCDS11665.1	17q24	2004-02-16				ENSG00000075429		"""Calcium channel subunits"""	1409	protein-coding gene	gene with protein product		606405				10613843	Standard	NM_145811		Approved		uc010wqj.2	Q9UF02		ENST00000533854.1:c.391G>C	17.37:g.64876781G>C	ENSP00000436836:p.Ala131Pro		A8K2A6|Q547R3|Q8WXS7|Q9UHM3	Missense_Mutation	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_gsu,prints_VDCC_g5su	p.A131P	ENST00000533854.1	37	c.391	CCDS11665.1	17	.	.	.	.	.	.	.	.	.	.	G	19.50	3.838716	0.71373	.	.	ENSG00000075429	ENST00000533854;ENST00000307139;ENST00000169565	D;D;D	0.88586	-2.4;-2.4;-2.4	3.76	3.76	0.43208	.	0.145669	0.45126	D	0.000383	D	0.92945	0.7755	M	0.69823	2.125	0.58432	D	0.999999	D	0.69078	0.997	D	0.68621	0.959	D	0.92277	0.5830	10	0.35671	T	0.21	-29.8538	15.437	0.75155	0.0:0.0:1.0:0.0	.	131	Q9UF02	CCG5_HUMAN	P	131	ENSP00000436836:A131P;ENSP00000303092:A131P;ENSP00000169565:A131P	ENSP00000169565:A131P	A	+	1	0	CACNG5	62307243	1.000000	0.71417	0.998000	0.56505	0.973000	0.67179	9.351000	0.97073	2.019000	0.59389	0.591000	0.81541	GCC	CACNG5	-	pfam_PMP22/EMP/MP20/Claudin	ENSG00000075429		0.448	CACNG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNG5	HGNC	protein_coding	OTTHUMT00000389882.1	-	0.00	63	0	G	NM_014404, NM_145811		64876781	+1	tier1	-	no_errors	ENST00000169565	ensembl	human	known	74_37	missense	23.88	51	16	SNP	1.000	C
CARD11	84433	genome.wustl.edu	37	7	2963891	2963891	+	Missense_Mutation	SNP	A	A	T			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr7:2963891A>T	ENST00000396946.4	-	15	2319	c.1916T>A	c.(1915-1917)aTg>aAg	p.M639K		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	639					Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CTTCCTGAACATGAGGTTGAC	0.592			Mis		DLBCL																																			Dom	yes		7	7p22	84433	"""caspase recruitment domain family, member 11"""		L	0													84.0	67.0	73.0					7																	2963891		2203	4300	6503	SO:0001583	missense	0			AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"""card-maguk protein 1"", ""bcl10-interacting maguk protein 3"""	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.1916T>A	7.37:g.2963891A>T	ENSP00000380150:p.Met639Lys		A4D1Z7|Q2NKN7|Q548H3	Missense_Mutation	SNP	pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,superfamily_PDZ,pfscan_CARD	p.M639K	ENST00000396946.4	37	c.1916	CCDS5336.2	7	.	.	.	.	.	.	.	.	.	.	A	14.71	2.617362	0.46736	.	.	ENSG00000198286	ENST00000396946;ENST00000355508	T;T	0.47869	0.83;0.83	5.15	5.15	0.70609	.	0.050940	0.85682	D	0.000000	T	0.21387	0.0515	N	0.03608	-0.345	0.51233	D	0.999915	B	0.28636	0.218	B	0.23574	0.047	T	0.16748	-1.0392	10	0.06099	T	0.92	-41.8671	13.5571	0.61765	1.0:0.0:0.0:0.0	.	639	Q9BXL7	CAR11_HUMAN	K	639;110	ENSP00000380150:M639K;ENSP00000347695:M110K	ENSP00000347695:M110K	M	-	2	0	CARD11	2930417	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.319000	0.89992	1.957000	0.56846	0.454000	0.30748	ATG	CARD11	-	NULL	ENSG00000198286		0.592	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	CARD11	HGNC	protein_coding	OTTHUMT00000059344.4	-	0.00	50	0	A	NM_032415		2963891	-1	tier1	-	no_errors	ENST00000396946	ensembl	human	known	74_37	missense	13.33	52	8	SNP	1.000	T
CASP8	841	genome.wustl.edu	37	2	202151220	202151220	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr2:202151220A>G	ENST00000432109.2	+	10	1532	c.1343A>G	c.(1342-1344)tAt>tGt	p.Y448C	CASP8_ENST00000323492.7_Missense_Mutation_p.Y433C|CASP8_ENST00000264274.9_Missense_Mutation_p.Y364C|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000358485.4_Missense_Mutation_p.Y507C|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000264275.5_Missense_Mutation_p.Y465C	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	448					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						GAAGTGAACTATGAAGTAAGC	0.413										HNSCC(4;0.00038)																											Melanoma(82;831 1348 20716 36952 40159)												0													180.0	161.0	167.0					2																	202151220		2203	4300	6503	SO:0001583	missense	0			U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"""Caspases"""	1509	protein-coding gene	gene with protein product		601763	"""caspase 8, apoptosis-related cysteine protease"""			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.1343A>G	2.37:g.202151220A>G	ENSP00000412523:p.Tyr448Cys		O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Missense_Mutation	SNP	pfam_DED,pfam_Pept_C14_caspase,superfamily_DEATH-like_dom,smart_DED,smart_Pept_C14A_p45_core,pfscan_DED,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core	p.Y507C	ENST00000432109.2	37	c.1520	CCDS2342.1	2	.	.	.	.	.	.	.	.	.	.	A	9.361	1.068051	0.20067	.	.	ENSG00000064012	ENST00000392263;ENST00000264274;ENST00000432109;ENST00000264275;ENST00000358485;ENST00000323492;ENST00000444430	T;T;T;T;T;T;T	0.20881	2.04;2.04;2.04;2.04;2.04;2.04;2.04	5.87	-1.96	0.07525	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase non-catalytic subunit p10 (1);Peptidase C14, caspase precursor p45, core (1);	0.913888	0.09675	N	0.770560	T	0.26557	0.0649	L	0.41573	1.285	0.09310	N	1	D;D;B;B;D	0.64830	0.994;0.977;0.048;0.039;0.977	P;P;B;B;P	0.58077	0.832;0.748;0.021;0.005;0.8	T	0.28073	-1.0055	10	0.40728	T	0.16	.	8.0348	0.30486	0.58:0.1153:0.0:0.3048	.	364;507;448;433;465	Q14790-3;Q14790-9;Q14790;Q14790-2;Q14790-4	.;.;CASP8_HUMAN;.;.	C	433;364;448;465;507;433;227	ENSP00000376091:Y433C;ENSP00000264274:Y364C;ENSP00000412523:Y448C;ENSP00000264275:Y465C;ENSP00000351273:Y507C;ENSP00000325722:Y433C;ENSP00000394434:Y227C	ENSP00000264274:Y364C	Y	+	2	0	CASP8	201859465	0.000000	0.05858	0.837000	0.33122	0.658000	0.38924	-0.902000	0.04088	-0.161000	0.10983	0.533000	0.62120	TAT	CASP8	-	pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core,pfscan_Pept_C14_p10	ENSG00000064012		0.413	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	CASP8	HGNC	protein_coding	OTTHUMT00000336853.2	-	0.00	36	0	A	NM_001228		202151220	+1	tier1	-	no_errors	ENST00000358485	ensembl	human	known	74_37	missense	65.91	15	29	SNP	0.004	G
CASZ1	54897	genome.wustl.edu	37	1	10718607	10718607	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr1:10718607G>A	ENST00000377022.3	-	7	1684	c.1367C>T	c.(1366-1368)gCc>gTc	p.A456V	CASZ1_ENST00000478728.2_5'Flank|CASZ1_ENST00000344008.5_Missense_Mutation_p.A456V	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	456					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		TTCAGTGACGGCTGGTTTATC	0.592																																																	0													89.0	84.0	86.0					1																	10718607		2203	4300	6503	SO:0001583	missense	0			AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"""Zinc fingers, C2H2-type"""	26002	protein-coding gene	gene with protein product	"""zinc finger protein 693"", ""survival related gene"""	609895	"""castor homolog 1, zinc finger (Drosophila)"""			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.1367C>T	1.37:g.10718607G>A	ENSP00000366221:p.Ala456Val		Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A456V	ENST00000377022.3	37	c.1367	CCDS41246.1	1	.	.	.	.	.	.	.	.	.	.	G	19.76	3.887972	0.72410	.	.	ENSG00000130940	ENST00000377022;ENST00000344008	.	.	.	4.48	3.57	0.40892	.	0.200019	0.42821	D	0.000644	T	0.33556	0.0867	N	0.22421	0.69	0.36645	D	0.877044	P;B;B;B	0.49253	0.921;0.274;0.274;0.008	B;B;B;B	0.40702	0.338;0.16;0.173;0.007	T	0.41520	-0.9504	9	0.48119	T	0.1	-6.7249	12.7377	0.57234	0.0805:0.0:0.9195:0.0	.	480;456;456;456	B7Z1S3;B3KRV8;Q86V15-2;Q86V15	.;.;.;CASZ1_HUMAN	V	456	.	ENSP00000339445:A456V	A	-	2	0	CASZ1	10641194	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.329000	0.72920	1.032000	0.39892	0.655000	0.94253	GCC	CASZ1	-	NULL	ENSG00000130940		0.592	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CASZ1	HGNC	protein_coding	OTTHUMT00000005673.2		0.00	72	0	G	NM_017766		10718607	-1			no_errors	ENST00000377022	ensembl	human	known	74_37	missense	7.81	58	5	SNP	1.000	A
CBL	867	genome.wustl.edu	37	11	119077233	119077233	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr11:119077233C>T	ENST00000264033.4	+	1	482	c.106C>T	c.(106-108)Cac>Tac	p.H36Y		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	36	Sufficient for interaction with EPHB1.				cell surface receptor signaling pathway (GO:0007166)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|flotillin complex (GO:0016600)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ephrin receptor binding (GO:0046875)|ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SH3 domain binding (GO:0017124)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		CTTCCAGCCGcaccaccacca	0.672			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies																															"""Dom, Rec"""	yes		11	11q23.3	867	Cas-Br-M (murine) ecotropic retroviral transforming		L	0													11.0	11.0	11.0					11																	119077233		2061	4083	6144	SO:0001583	missense	0	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CBL-associated JMML	X57110	CCDS8418.1	11q23.3	2014-09-17	2012-02-23		ENSG00000110395	ENSG00000110395		"""RING-type (C3HC4) zinc fingers"""	1541	protein-coding gene	gene with protein product	"""oncogene CBL2"""	165360	"""Cas-Br-M (murine) ecotropic retroviral transforming sequence"""	CBL2		2013228	Standard	NM_005188		Approved	RNF55, c-Cbl	uc001pwe.4	P22681	OTTHUMG00000166170	ENST00000264033.4:c.106C>T	11.37:g.119077233C>T	ENSP00000264033:p.His36Tyr		A3KMP8	Missense_Mutation	SNP	pfam_Adaptor_Cbl_N_hlx,pfam_Adaptor_Cbl_SH2-like,pfam_Adaptor_Cbl_EF_hand-like,pfam_Znf_C3HC4_RING-type,pfam_UBA/Ts_N,superfamily_Adaptor_Cbl_N_hlx,superfamily_UBA-like,smart_Znf_RING,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_RING	p.H36Y	ENST00000264033.4	37	c.106	CCDS8418.1	11	.	.	.	.	.	.	.	.	.	.	C	3.428	-0.116733	0.06838	.	.	ENSG00000110395	ENST00000264033	T	0.77620	-1.11	1.71	1.71	0.24356	.	0.000000	0.85682	U	0.000000	T	0.50956	0.1646	N	0.08118	0	0.42372	D	0.992457	B	0.18461	0.028	B	0.06405	0.002	T	0.35773	-0.9775	10	0.15066	T	0.55	-6.5774	6.8593	0.24058	0.0:1.0:0.0:0.0	.	36	P22681	CBL_HUMAN	Y	36	ENSP00000264033:H36Y	ENSP00000264033:H36Y	H	+	1	0	CBL	118582443	0.996000	0.38824	0.998000	0.56505	0.137000	0.21094	1.033000	0.30191	1.270000	0.44297	0.289000	0.19496	CAC	CBL	-	NULL	ENSG00000110395		0.672	CBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBL	HGNC	protein_coding	OTTHUMT00000388219.4	-	0.00	22	0	C	NM_005188		119077233	+1	tier1	-	no_errors	ENST00000264033	ensembl	human	known	74_37	missense	73.08	7	19	SNP	0.999	T
CCDC171	203238	genome.wustl.edu	37	9	15744551	15744551	+	Nonsense_Mutation	SNP	C	C	G			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr9:15744551C>G	ENST00000380701.3	+	17	2658	c.2330C>G	c.(2329-2331)tCa>tGa	p.S777*	CCDC171_ENST00000297641.3_Nonsense_Mutation_p.S777*	NM_173550.2	NP_775821.2	Q6TFL3	CC171_HUMAN	coiled-coil domain containing 171	777																	CAGGCTTTGTCAACTGTAGAG	0.413																																																	0													102.0	108.0	106.0					9																	15744551		2203	4300	6503	SO:0001587	stop_gained	0			AY422473	CCDS6481.1	9p22.2	2012-03-26	2012-03-26	2012-03-26	ENSG00000164989	ENSG00000164989			29828	protein-coding gene	gene with protein product	"""myosin tail domain containing protein"""		"""chromosome 9 open reading frame 93"""	C9orf93		14702039	Standard	NM_173550		Approved	FLJ39267, FLJ46740, Em:AL513423.1, bA778P13.1, bA536D16.1	uc003zmd.3	Q6TFL3	OTTHUMG00000019584	ENST00000380701.3:c.2330C>G	9.37:g.15744551C>G	ENSP00000370077:p.Ser777*		B7ZM22|Q5SU58|Q6P1W1|Q6ZR13|Q8N1Z4|Q8N8L3|Q8TBR2	Nonsense_Mutation	SNP	superfamily_STAT_TF_coiled-coil	p.S777*	ENST00000380701.3	37	c.2330	CCDS6481.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	45|45	12.043356|12.043356	0.99630|0.99630	.|.	.|.	ENSG00000164989|ENSG00000164989	ENST00000449575|ENST00000297641;ENST00000380689;ENST00000380701	.|.	.|.	.|.	5.46|5.46	5.46|5.46	0.80206|0.80206	.|.	.|0.132928	.|0.49916	.|D	.|0.000127	T|.	0.78155|.	0.4239|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.78770|.	-0.2074|.	4|.	.|0.56958	.|D	.|0.05	-9.1015|-9.1015	19.6798|19.6798	0.95958|0.95958	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	E|X	17|777;44;777	.|.	.|ENSP00000297641:S777X	Q|S	+|+	1|2	0|0	C9orf93|C9orf93	15734551|15734551	1.000000|1.000000	0.71417|0.71417	0.970000|0.970000	0.41538|0.41538	0.989000|0.989000	0.77384|0.77384	3.757000|3.757000	0.55212|0.55212	2.733000|2.733000	0.93635|0.93635	0.467000|0.467000	0.42956|0.42956	CAA|TCA	CCDC171	-	NULL	ENSG00000164989		0.413	CCDC171-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC171	HGNC	protein_coding	OTTHUMT00000051768.4	-	0.00	33	0	C	NM_173550		15744551	+1	tier1	-	no_errors	ENST00000380701	ensembl	human	known	74_37	nonsense	33.33	14	7	SNP	0.997	G
CCDC27	148870	genome.wustl.edu	37	1	3677911	3677911	+	Nonsense_Mutation	SNP	G	G	T			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr1:3677911G>T	ENST00000294600.2	+	5	862	c.778G>T	c.(778-780)Gag>Tag	p.E260*		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	260										breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		GCTGCTCCAGGAGGAGAGGGA	0.597																																																	0													79.0	75.0	77.0					1																	3677911		2203	4300	6503	SO:0001587	stop_gained	0				CCDS50.1	1p36.32	2008-02-05			ENSG00000162592	ENSG00000162592			26546	protein-coding gene	gene with protein product							Standard	NM_152492		Approved	FLJ32825	uc001akv.2	Q2M243	OTTHUMG00000003504	ENST00000294600.2:c.778G>T	1.37:g.3677911G>T	ENSP00000294600:p.Glu260*		Q5TBV3|Q96M50	Nonsense_Mutation	SNP	superfamily_Prefoldin	p.E260*	ENST00000294600.2	37	c.778	CCDS50.1	1	.	.	.	.	.	.	.	.	.	.	G	19.76	3.887118	0.72410	.	.	ENSG00000162592	ENST00000294600	.	.	.	3.75	1.59	0.23543	.	0.658156	0.12662	N	0.449577	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	-13.2621	3.5044	0.07685	0.1933:0.2607:0.546:0.0	.	.	.	.	X	260	.	ENSP00000294600:E260X	E	+	1	0	CCDC27	3667771	0.971000	0.33674	0.165000	0.22776	0.436000	0.31835	0.178000	0.16820	0.220000	0.20860	0.563000	0.77884	GAG	CCDC27	-	NULL	ENSG00000162592		0.597	CCDC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC27	HGNC	protein_coding	OTTHUMT00000009740.1	-	0.00	31	0	G	NM_152492		3677911	+1	tier1	-	no_errors	ENST00000294600	ensembl	human	known	74_37	nonsense	47.83	12	11	SNP	0.541	T
CCDC7	79741	genome.wustl.edu	37	10	32807402	32807402	+	Frame_Shift_Del	DEL	A	A	-			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr10:32807402delA	ENST00000362006.5	+	12	1505	c.962delA	c.(961-963)gaafs	p.E321fs	CCDC7_ENST00000277657.6_Frame_Shift_Del_p.E321fs	NM_145023.4	NP_659460.3	Q96M83	CCDC7_HUMAN	coiled-coil domain containing 7	321										NS(1)|breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)	14		Breast(68;0.000207)|Prostate(175;0.0107)				TTGGTGCTGGAAAATGAACTA	0.303																																																	0													80.0	89.0	86.0					10																	32807402		2203	4300	6503	SO:0001589	frameshift_variant	0			BC022020	CCDS7173.1	10p11.23	2013-12-13			ENSG00000216937	ENSG00000216937			26533	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 68"""	C10orf68		12477932	Standard	NM_024688		Approved	FLJ32762, FLJ13031	uc001iwk.3	Q96M83	OTTHUMG00000150517	ENST00000362006.5:c.962delA	10.37:g.32807402delA	ENSP00000355078:p.Glu321fs		Q5VW55|Q8IVQ0|Q8NEQ0	Frame_Shift_Del	DEL	NULL	p.N322fs	ENST00000362006.5	37	c.962	CCDS7173.1	10																																																																																			CCDC7	-	NULL	ENSG00000216937		0.303	CCDC7-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	CCDC7	HGNC	protein_coding	OTTHUMT00000047490.1		0.00	24	0	A	NM_145023		32807402	+1	tier1		no_errors	ENST00000277657	ensembl	human	known	74_37	frame_shift_del	6.90	27	2	DEL	1.000	-
CD36	948	genome.wustl.edu	37	7	80302674	80302674	+	Silent	SNP	A	A	C			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr7:80302674A>C	ENST00000435819.1	+	16	1887	c.1203A>C	c.(1201-1203)gtA>gtC	p.V401V	CD36_ENST00000447544.2_Silent_p.V401V|CD36_ENST00000309881.7_Silent_p.V401V|CD36_ENST00000538969.1_Silent_p.V341V|CD36_ENST00000394788.3_Silent_p.V401V|CD36_ENST00000433696.2_Silent_p.V362V|CD36_ENST00000544133.1_3'UTR|CD36_ENST00000534394.1_Silent_p.V325V|CD36_ENST00000432207.1_Silent_p.V401V			P16671	CD36_HUMAN	CD36 molecule (thrombospondin receptor)	401					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cellular lipid metabolic process (GO:0044255)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to hydroperoxide (GO:0071447)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cGMP-mediated signaling (GO:0019934)|cholesterol transport (GO:0030301)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response (GO:0045087)|lipid metabolic process (GO:0006629)|lipid storage (GO:0019915)|lipoprotein transport (GO:0042953)|long-chain fatty acid import (GO:0044539)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle mediated signaling (GO:0055096)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of transcription factor import into nucleus (GO:0042992)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nitric oxide mediated signal transduction (GO:0007263)|phagocytosis, recognition (GO:0006910)|plasma lipoprotein particle clearance (GO:0034381)|plasma membrane long-chain fatty acid transport (GO:0015911)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood microparticle formation (GO:2000334)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of removal of superoxide radicals (GO:2000121)|response to stilbenoid (GO:0035634)|small molecule metabolic process (GO:0044281)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cell surface (GO:0009986)|endocytic vesicle membrane (GO:0030666)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)	high-density lipoprotein particle binding (GO:0008035)|lipid binding (GO:0008289)|lipoprotein particle binding (GO:0071813)|lipoteichoic acid receptor activity (GO:0070892)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|thrombospondin receptor activity (GO:0070053)|transforming growth factor beta binding (GO:0050431)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(1)|lung(6)|ovary(1)	21						ATTACAGAGTATTAAAGAATC	0.249																																																	0													60.0	63.0	62.0					7																	80302674		2202	4269	6471	SO:0001819	synonymous_variant	0			Z32770	CCDS34673.1	7q11.2	2010-02-26	2006-03-28		ENSG00000135218	ENSG00000135218		"""CD molecules"""	1663	protein-coding gene	gene with protein product		173510	"""CD36 antigen (collagen type I receptor, thrombospondin receptor)"""			7503937	Standard	NM_001001548		Approved	SCARB3, GPIV, FAT, GP4, GP3B	uc003uhg.4	P16671	OTTHUMG00000155383	ENST00000435819.1:c.1203A>C	7.37:g.80302674A>C			D9IX66|D9IX67|D9IX68|D9IX69|Q13966|Q16093|Q8TCV7|Q9BPZ8|Q9BQC2|Q9BZM8|Q9BZN3|Q9BZN4|Q9BZN5	Silent	SNP	pfam_CD36,prints_CD36_antigen,prints_CD36	p.V401	ENST00000435819.1	37	c.1203	CCDS34673.1	7																																																																																			CD36	-	pfam_CD36,prints_CD36_antigen	ENSG00000135218		0.249	CD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD36	HGNC	protein_coding	OTTHUMT00000339767.6	-	0.00	25	0	A	NM_001001547		80302674	+1	tier1	-	no_errors	ENST00000309881	ensembl	human	known	74_37	silent	19.23	21	5	SNP	0.106	C
CENPC	1060	genome.wustl.edu	37	4	68385049	68385049	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr4:68385049G>T	ENST00000273853.6	-	6	753	c.503C>A	c.(502-504)tCt>tAt	p.S168Y		NM_001812.2	NP_001803.2	Q03188	CENPC_HUMAN	centromere protein C	168					chromosome segregation (GO:0007059)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	centromeric DNA binding (GO:0019237)|DNA binding (GO:0003677)										TTGTGATACAGATGTTTTTGC	0.343																																																	0													114.0	103.0	107.0					4																	68385049		1824	4098	5922	SO:0001583	missense	0			M95724	CCDS47063.1	4q13.2	2013-11-05	2013-07-03	2013-07-03	ENSG00000145241	ENSG00000145241			1854	protein-coding gene	gene with protein product		117141	"""centromere protein C 1"""	CENPC1		7959789	Standard	XR_245245		Approved	CENP-C, hcp-4, MIF2	uc003hdd.1	Q03188	OTTHUMG00000160735	ENST00000273853.6:c.503C>A	4.37:g.68385049G>T	ENSP00000273853:p.Ser168Tyr		Q8IW27|Q9P0M5	Missense_Mutation	SNP	pfam_Mif2/CENP-C_cupin,pfam_Cupin_2,superfamily_RmlC_Cupin	p.S168Y	ENST00000273853.6	37	c.503	CCDS47063.1	4	.	.	.	.	.	.	.	.	.	.	G	13.10	2.136016	0.37728	.	.	ENSG00000145241	ENST00000273853	.	.	.	4.95	4.1	0.47936	.	0.642292	0.14356	N	0.324776	T	0.52629	0.1746	L	0.54323	1.7	0.09310	N	1	D;D	0.61080	0.989;0.989	P;P	0.57283	0.817;0.817	T	0.42015	-0.9476	9	0.66056	D	0.02	-0.758	10.7336	0.46111	0.0:0.0:0.8113:0.1887	.	168;168	Q8IW27;Q03188	.;CENPC_HUMAN	Y	168	.	ENSP00000273853:S168Y	S	-	2	0	CENPC1	68067644	0.002000	0.14202	0.019000	0.16419	0.544000	0.35116	0.989000	0.29629	1.260000	0.44134	0.591000	0.81541	TCT	CENPC	-	NULL	ENSG00000145241		0.343	CENPC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPC	HGNC	protein_coding	OTTHUMT00000362001.2	-	0.00	47	0	G			68385049	-1	tier1	-	no_errors	ENST00000273853	ensembl	human	known	74_37	missense	6.25	60	4	SNP	0.013	T
CENPE	1062	genome.wustl.edu	37	4	104116291	104116291	+	Missense_Mutation	SNP	T	T	C			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr4:104116291T>C	ENST00000265148.3	-	5	546	c.457A>G	c.(457-459)Att>Gtt	p.I153V	CENPE_ENST00000380026.3_Missense_Mutation_p.I153V	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	153	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)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TCTCGAATAATTAAAGGTTTC	0.318																																																	0													97.0	99.0	99.0					4																	104116291		2203	4292	6495	SO:0001583	missense	0			Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1856	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 61"""	117143	"""centromere protein E (312kD)"""			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.457A>G	4.37:g.104116291T>C	ENSP00000265148:p.Ile153Val		A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,superfamily_STAT_TF_coiled-coil,superfamily_Signal_recog_particl_SRP54_hlx,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.I153V	ENST00000265148.3	37	c.457	CCDS34042.1	4	.	.	.	.	.	.	.	.	.	.	T	13.54	2.266832	0.40095	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026;ENST00000503705	T;T;T	0.74737	-0.87;-0.87;-0.87	5.94	0.8	0.18672	Kinesin, motor domain (4);	.	.	.	.	T	0.42177	0.1191	N	0.01529	-0.815	0.28318	N	0.922366	B;B	0.06786	0.001;0.0	B;B	0.04013	0.0;0.001	T	0.31530	-0.9940	9	0.33141	T	0.24	.	4.4754	0.11733	0.1559:0.4218:0.0:0.4223	.	153;153	Q02224-3;Q02224	.;CENPE_HUMAN	V	153	ENSP00000265148:I153V;ENSP00000369365:I153V;ENSP00000423981:I153V	ENSP00000265148:I153V	I	-	1	0	CENPE	104335740	1.000000	0.71417	0.996000	0.52242	0.915000	0.54546	1.386000	0.34419	0.144000	0.18951	-0.263000	0.10527	ATT	CENPE	-	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	ENSG00000138778		0.318	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPE	HGNC	protein_coding		-	0.00	25	0	T			104116291	-1	tier1	-	no_errors	ENST00000265148	ensembl	human	known	74_37	missense	69.05	13	29	SNP	1.000	C
CEP350	9857	genome.wustl.edu	37	1	180064685	180064685	+	Nonsense_Mutation	SNP	C	C	T			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr1:180064685C>T	ENST00000367607.3	+	35	8957	c.8539C>T	c.(8539-8541)Cag>Tag	p.Q2847*	CEP350_ENST00000490141.1_3'UTR	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	2847					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						TGCCAGTGGGCAGGAAGAACT	0.428																																																	0													66.0	72.0	70.0					1																	180064685		2203	4300	6503	SO:0001587	stop_gained	0			AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.8539C>T	1.37:g.180064685C>T	ENSP00000356579:p.Gln2847*		O75068|Q8TDK3|Q8WY20	Nonsense_Mutation	SNP	pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain	p.Q2847*	ENST00000367607.3	37	c.8539	CCDS1336.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	42|42	9.178710|9.178710	0.99091|0.99091	.|.	.|.	ENSG00000135837|ENSG00000135837	ENST00000429851|ENST00000367607;ENST00000417046	.|.	.|.	.|.	5.91|5.91	5.91|5.91	0.95273|0.95273	.|.	.|0.000000	.|0.44483	.|D	.|0.000460	T|.	0.75012|.	0.3792|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.72100|.	-0.4392|.	3|.	.|.	.|.	.|.	.|.	18.4719|18.4719	0.90777|0.90777	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	V|X	1021|2847;311	.|.	.|.	A|Q	+|+	2|1	0|0	CEP350|CEP350	178331308|178331308	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.175000|7.175000	0.77632|0.77632	2.808000|2.808000	0.96608|0.96608	0.585000|0.585000	0.79938|0.79938	GCA|CAG	CEP350	-	NULL	ENSG00000135837		0.428	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP350	HGNC	protein_coding	OTTHUMT00000085315.2	-	0.00	18	0	C	NM_014810		180064685	+1	tier1	-	no_errors	ENST00000367607	ensembl	human	known	74_37	nonsense	36.00	16	9	SNP	1.000	T
CISD2	493856	genome.wustl.edu	37	4	103806549	103806549	+	Missense_Mutation	SNP	A	A	T			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr4:103806549A>T	ENST00000273986.4	+	2	387	c.280A>T	c.(280-282)Act>Tct	p.T94S	CISD2_ENST00000503643.1_Missense_Mutation_p.T104S|SLC9B1_ENST00000394789.3_Intron	NM_001008388.4	NP_001008389.1	Q8N5K1	CISD2_HUMAN	CDGSH iron sulfur domain 2	94					mitochondrion degradation (GO:0000422)|multicellular organismal aging (GO:0010259)|regulation of autophagy (GO:0010506)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|protein complex (GO:0043234)	2 iron, 2 sulfur cluster binding (GO:0051537)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			endometrium(1)|lung(3)	4				OV - Ovarian serous cystadenocarcinoma(123;1.97e-08)		TTTGTGTCTTACTAAAGCAGC	0.348																																																	0													58.0	56.0	57.0					4																	103806549		2203	4300	6503	SO:0001583	missense	0			BX537971	CCDS34040.1	4q24	2009-03-25	2007-08-10	2007-08-10	ENSG00000145354	ENSG00000145354		"""CDGSH iron sulfur domain containing"""	24212	protein-coding gene	gene with protein product	"""mitoNEET related 1"", ""endoplasmic reticulum intermembrane small protein"""	611507	"""zinc finger, CDGSH-type domain 2"", ""Wolfram syndrome 2"""	ZCD2, WFS2		17376863, 17584744, 17846994	Standard	NM_001008388		Approved	Miner1, ERIS	uc003hwt.4	Q8N5K1	OTTHUMG00000161014	ENST00000273986.4:c.280A>T	4.37:g.103806549A>T	ENSP00000273986:p.Thr94Ser		Q7Z3D5	Missense_Mutation	SNP	pfam_FeS-contain_mitoNEET_N,pfam_FeS-contain_CDGSH-typ,smart_FeS-contain_CDGSH-typ_subfam	p.T94S	ENST00000273986.4	37	c.280	CCDS34040.1	4	.	.	.	.	.	.	.	.	.	.	A	10.15	1.271227	0.23221	.	.	ENSG00000145354	ENST00000273986;ENST00000503643	.	.	.	6.17	3.76	0.43208	Iron sulphur-containing domain, CDGSH-type, subfamily (1);Iron sulphur-containing domain, CDGSH-type (1);	0.243602	0.49305	D	0.000155	T	0.20820	0.0501	N	0.00926	-1.1	0.49798	D	0.999824	B	0.29481	0.245	B	0.35182	0.197	T	0.07520	-1.0768	9	0.21540	T	0.41	-9.7638	10.8706	0.46881	0.8131:0.0:0.1869:0.0	.	94	Q8N5K1	CISD2_HUMAN	S	94;104	.	ENSP00000273986:T94S	T	+	1	0	CISD2	104025984	0.376000	0.25098	0.138000	0.22173	0.888000	0.51559	1.042000	0.30303	0.201000	0.20466	-1.139000	0.01908	ACT	CISD2	-	pfam_FeS-contain_CDGSH-typ,smart_FeS-contain_CDGSH-typ_subfam	ENSG00000145354		0.348	CISD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CISD2	HGNC	protein_coding	OTTHUMT00000363417.2	-	0.00	50	0	A	NM_001008388		103806549	+1	tier1	-	no_errors	ENST00000273986	ensembl	human	known	74_37	missense	32.69	35	17	SNP	0.121	T
CNGB3	54714	genome.wustl.edu	37	8	87641177	87641177	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr8:87641177C>T	ENST00000320005.5	-	12	1497	c.1450G>A	c.(1450-1452)Gaa>Aaa	p.E484K		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	484					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						CATGTATATTCATACCAAGTC	0.408																																																	0													207.0	194.0	198.0					8																	87641177		2203	4300	6503	SO:0001583	missense	0			AF228520	CCDS6244.1	8q21.3	2013-01-23	2003-06-25		ENSG00000170289	ENSG00000170289		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2153	protein-coding gene	gene with protein product		605080	"""achromatopsia (rod monochromacy) 3"", ""achromatopsia (rod monochromacy) 1"""	ACHM3, ACHM1, RMCH		10888875, 10958649, 16382102	Standard	NM_019098		Approved		uc003ydx.3	Q9NQW8	OTTHUMG00000163738	ENST00000320005.5:c.1450G>A	8.37:g.87641177C>T	ENSP00000316605:p.Glu484Lys		C9JA51|Q9NRE9	Missense_Mutation	SNP	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.E484K	ENST00000320005.5	37	c.1450	CCDS6244.1	8	.	.	.	.	.	.	.	.	.	.	C	16.84	3.233009	0.58777	.	.	ENSG00000170289	ENST00000320005	D	0.97016	-4.21	5.92	2.06	0.26882	Cyclic nucleotide-binding-like (1);	0.309481	0.33075	N	0.005315	D	0.92877	0.7734	L	0.46157	1.445	0.42420	D	0.992637	B;B	0.15719	0.014;0.008	B;B	0.21151	0.033;0.015	D	0.87593	0.2492	10	0.49607	T	0.09	.	8.4958	0.33127	0.0:0.7027:0.1102:0.187	.	484;484	Q9NQW8-2;Q9NQW8	.;CNGB3_HUMAN	K	484	ENSP00000316605:E484K	ENSP00000316605:E484K	E	-	1	0	CNGB3	87710293	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	1.186000	0.32078	0.392000	0.25172	0.555000	0.69702	GAA	CNGB3	-	superfamily_cNMP-bd-like	ENSG00000170289		0.408	CNGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNGB3	HGNC	protein_coding	OTTHUMT00000375107.1	-	0.00	84	0	C	NM_019098		87641177	-1	tier1	-	no_errors	ENST00000320005	ensembl	human	known	74_37	missense	15.79	80	15	SNP	1.000	T
CNN2	1265	genome.wustl.edu	37	19	1036246	1036246	+	Splice_Site	SNP	G	G	A			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr19:1036246G>A	ENST00000263097.4	+	5	870		c.e5+1		CNN2_ENST00000565096.2_Splice_Site|CNN2_ENST00000562958.2_Splice_Site|AC011558.5_ENST00000585757.1_RNA|CNN2_ENST00000348419.3_Intron|CNN2_ENST00000606983.1_Intron	NM_004368.2	NP_004359.1	Q99439	CNN2_HUMAN	calponin 2						actomyosin structure organization (GO:0031032)|cellular response to mechanical stimulus (GO:0071260)|cytoskeleton organization (GO:0007010)|hemopoiesis (GO:0030097)|negative regulation of cell migration (GO:0030336)|negative regulation of phagocytosis (GO:0050765)|positive regulation of gene expression (GO:0010628)|regulation of actin filament-based process (GO:0032970)|regulation of cell proliferation (GO:0042127)|wound healing (GO:0042060)	cell-cell junction (GO:0005911)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|stress fiber (GO:0001725)	actin binding (GO:0003779)			endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|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)		CGGGCTGCAGGTGGGCGACAG	0.657																																																	0													38.0	34.0	35.0					19																	1036246		2203	4300	6503	SO:0001630	splice_region_variant	0			D83735	CCDS12053.1, CCDS12054.1	19p13.3	2011-02-18			ENSG00000064666	ENSG00000064666			2156	protein-coding gene	gene with protein product		602373				8889829	Standard	NM_004368		Approved		uc002lqu.3	Q99439		ENST00000263097.4:c.507+1G>A	19.37:g.1036246G>A			A5D8U8|A6NFI4|D6W5X9|Q92578	Splice_Site	SNP	-	e5+1	ENST00000263097.4	37	c.507+1	CCDS12053.1	19	.	.	.	.	.	.	.	.	.	.	G	15.61	2.884135	0.51908	.	.	ENSG00000064666	ENST00000263097;ENST00000442531	.	.	.	4.59	4.59	0.56863	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8648	0.70406	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CNN2	987246	1.000000	0.71417	0.995000	0.50966	0.475000	0.33008	9.024000	0.93689	2.101000	0.63845	0.555000	0.69702	.	CNN2	-	-	ENSG00000064666		0.657	CNN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNN2	HGNC	protein_coding	OTTHUMT00000420293.3	-	0.00	49	0	G	NM_004368	Intron	1036246	+1	tier1	-	no_errors	ENST00000263097	ensembl	human	known	74_37	splice_site	13.51	32	5	SNP	1.000	A
COL4A6	1288	genome.wustl.edu	37	X	107431880	107431880	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chrX:107431880C>T	ENST00000372216.4	-	21	1557	c.1457G>A	c.(1456-1458)gGt>gAt	p.G486D	COL4A6_ENST00000394872.2_Missense_Mutation_p.G486D|COL4A6_ENST00000545689.1_Missense_Mutation_p.G485D|COL4A6_ENST00000538570.1_Missense_Mutation_p.G485D|COL4A6_ENST00000334504.7_Missense_Mutation_p.G485D	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	486	Triple-helical region.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						GGGAACACCACCGTCACAAGC	0.507									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)												0													40.0	41.0	40.0					X																	107431880		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database		U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"""Collagens"""	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.1457G>A	X.37:g.107431880C>T	ENSP00000361290:p.Gly486Asp		Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Missense_Mutation	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.G486D	ENST00000372216.4	37	c.1457	CCDS14541.1	X	.	.	.	.	.	.	.	.	.	.	C	13.40	2.226621	0.39300	.	.	ENSG00000197565	ENST00000372216;ENST00000334504;ENST00000394872;ENST00000541389;ENST00000545689;ENST00000538570	D;D;D;D;D	0.99619	-6.28;-6.28;-6.28;-4.61;-6.28	4.12	4.12	0.48240	.	0.000000	0.38605	N	0.001628	D	0.99032	0.9669	L	0.43923	1.385	0.41698	D	0.989383	D;D;P;D	0.54207	0.965;0.965;0.94;0.965	P;P;B;P	0.54401	0.643;0.751;0.44;0.643	D	0.98905	1.0778	10	0.38643	T	0.18	.	16.5704	0.84611	0.0:1.0:0.0:0.0	.	485;485;486;485	F5H851;F5H3Q5;Q14031;Q14031-2	.;.;CO4A6_HUMAN;.	D	486;485;486;485;485;485	ENSP00000361290:G486D;ENSP00000334733:G485D;ENSP00000378340:G486D;ENSP00000443707:G485D;ENSP00000445236:G485D	ENSP00000334733:G485D	G	-	2	0	COL4A6	107318536	1.000000	0.71417	1.000000	0.80357	0.455000	0.32408	5.079000	0.64431	2.295000	0.77249	0.600000	0.82982	GGT	COL4A6	-	NULL	ENSG00000197565		0.507	COL4A6-001	KNOWN	basic|CCDS	protein_coding	COL4A6	HGNC	protein_coding	OTTHUMT00000057875.2	-	0.00	28	0	C			107431880	-1	tier1	-	no_errors	ENST00000372216	ensembl	human	known	74_37	missense	50.00	10	10	SNP	1.000	T
CREBBP	1387	genome.wustl.edu	37	16	3781439	3781439	+	Silent	SNP	G	G	A			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr16:3781439G>A	ENST00000262367.5	-	30	5735	c.4926C>T	c.(4924-4926)gtC>gtT	p.V1642V	CREBBP_ENST00000382070.3_Silent_p.V1604V	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1642	CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.|Interaction with TRERF1.				cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GGGTGTTGATGACAGGCCCAG	0.632			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																																	Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	0													25.0	18.0	20.0					16																	3781439		2193	4300	6493	SO:0001819	synonymous_variant	0			U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.4926C>T	16.37:g.3781439G>A			D3DUC9|O00147|Q16376|Q4LE28	Silent	SNP	pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain	p.V1642	ENST00000262367.5	37	c.4926	CCDS10509.1	16																																																																																			CREBBP	-	NULL	ENSG00000005339		0.632	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CREBBP	HGNC	protein_coding	OTTHUMT00000251591.2		0.00	14	0	G	NM_004380		3781439	-1			no_errors	ENST00000262367	ensembl	human	known	74_37	silent	30.00	14	6	SNP	0.665	A
CUBN	8029	genome.wustl.edu	37	10	16949507	16949507	+	Splice_Site	SNP	C	C	T			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr10:16949507C>T	ENST00000377833.4	-	49	7770	c.7705G>A	c.(7705-7707)Gtg>Atg	p.V2569M		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2569					cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CCTACATTACCTGCATCTTCA	0.463																																																	0													77.0	65.0	69.0					10																	16949507		2203	4300	6503	SO:0001630	splice_region_variant	0			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.7705+1G>A	10.37:g.16949507C>T			B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	pfam_CUB_dom,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom	p.V2569M	ENST00000377833.4	37	c.7705	CCDS7113.1	10	.	.	.	.	.	.	.	.	.	.	C	26.1	4.702901	0.88924	.	.	ENSG00000107611	ENST00000377833	T	0.76316	-1.01	5.23	5.23	0.72850	CUB (2);	0.168224	0.28176	N	0.016311	D	0.83128	0.5187	M	0.62723	1.935	0.80722	D	1	D	0.54397	0.966	P	0.53224	0.721	T	0.82542	-0.0405	9	.	.	.	.	19.1791	0.93615	0.0:1.0:0.0:0.0	.	2569	O60494	CUBN_HUMAN	M	2569	ENSP00000367064:V2569M	.	V	-	1	0	CUBN	16989513	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	6.971000	0.76105	2.603000	0.88011	0.650000	0.86243	GTG	CUBN	-	superfamily_CUB_dom	ENSG00000107611		0.463	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUBN	HGNC	protein_coding	OTTHUMT00000047009.1	-	0.00	50	0	C	NM_001081	Missense_Mutation	16949507	-1	tier1	-	no_errors	ENST00000377833	ensembl	human	known	74_37	missense	25.35	53	18	SNP	1.000	T
DAB2IP	153090	genome.wustl.edu	37	9	124535315	124535315	+	Silent	SNP	G	G	A	rs373684988		TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr9:124535315G>A	ENST00000408936.3	+	12	2690	c.2508G>A	c.(2506-2508)gcG>gcA	p.A836A	DAB2IP_ENST00000309989.1_Silent_p.A712A|DAB2IP_ENST00000259371.2_Silent_p.A808A			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	836	Necessary for interaction with AKT1.				activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|angiogenesis (GO:0001525)|cell cycle (GO:0007049)|cell motility involved in cerebral cortex radial glia guided migration (GO:0021814)|cellular protein catabolic process (GO:0044257)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|layer formation in cerebral cortex (GO:0021819)|negative regulation of angiogenesis (GO:0016525)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of GTPase activity (GO:0034260)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatidylinositol 3-kinase activity (GO:0043553)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of Ras GTPase activity (GO:0034261)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuron projection morphogenesis (GO:0048812)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of dendrite development (GO:1900006)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of synapse maturation (GO:0090129)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of ARF GTPase activity (GO:0032312)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein complex assembly (GO:0043254)|response to unfolded protein (GO:0006986)|transformed cell apoptotic process (GO:0006927)|tube formation (GO:0035148)|vascular endothelial growth factor receptor-2 signaling pathway (GO:0036324)	axon (GO:0030424)|cerebellar mossy fiber (GO:0044300)|climbing fiber (GO:0044301)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|neuronal cell body (GO:0043025)|neuronal cell body membrane (GO:0032809)|parallel fiber (GO:1990032)|plasma membrane (GO:0005886)	14-3-3 protein binding (GO:0071889)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|mitogen-activated protein kinase kinase binding (GO:0031434)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase 2A binding (GO:0051721)|Ras GTPase activator activity (GO:0005099)|SH3 domain binding (GO:0017124)|signaling adaptor activity (GO:0035591)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						ACCAGATGGCGGCTGGCCTGC	0.682																																																	0													23.0	22.0	22.0					9																	124535315		2157	4226	6383	SO:0001819	synonymous_variant	0			AF367051	CCDS6832.1, CCDS6833.2	9q33.1-q33.3	2008-07-21			ENSG00000136848	ENSG00000136848			17294	protein-coding gene	gene with protein product	"""nGAP-like protein"", ""DOC-2/DAB2 interactive protein"", ""ASK-interacting protein"", ""ASK1-interacting protein 1"""	609205				11944990, 11812785	Standard	XM_005251721		Approved	AF9Q34, DIP1/2, KIAA1743, AIP1	uc004bln.3	Q5VWQ8	OTTHUMG00000020595	ENST00000408936.3:c.2508G>A	9.37:g.124535315G>A			A6H8V2|A6NHI9|B0QZB1|G3XA90|Q8TDL2|Q96SE1|Q9C0C0	Silent	SNP	pfam_DUF3498,pfam_RasGAP,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP	p.A836	ENST00000408936.3	37	c.2508		9																																																																																			DAB2IP	-	pfam_DUF3498	ENSG00000136848		0.682	DAB2IP-009	KNOWN	basic|appris_candidate_longest	protein_coding	DAB2IP	HGNC	protein_coding	OTTHUMT00000317857.1	-	0.00	14	0	G	NM_032552		124535315	+1	tier1	-	no_errors	ENST00000408936	ensembl	human	known	74_37	silent	36.84	12	7	SNP	0.476	A
DACH1	1602	genome.wustl.edu	37	13	72063217	72063217	+	Missense_Mutation	SNP	T	T	C			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr13:72063217T>C	ENST00000359684.2	-	8	1795	c.1796A>G	c.(1795-1797)cAt>cGt	p.H599R	DACH1_ENST00000313174.7_Missense_Mutation_p.H399R|DACH1_ENST00000354591.4_Missense_Mutation_p.H345R|DACH1_ENST00000305425.4_Missense_Mutation_p.H547R			Q9UI36	DACH1_HUMAN	dachshund family transcription factor 1	599					cell proliferation (GO:0008283)|development of primary female sexual characteristics (GO:0046545)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription by competitive promoter binding (GO:0010944)|respiratory gaseous exchange (GO:0007585)|suckling behavior (GO:0001967)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity involved in preinitiation complex assembly (GO:0001075)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		TGGTTGTCCATGCCCAGTTAG	0.448																																																	0													221.0	222.0	222.0					13																	72063217		1917	4129	6046	SO:0001583	missense	0			AJ005670	CCDS41899.1, CCDS53874.1, CCDS53873.1	13q22	2014-02-03	2014-02-03	2004-04-02	ENSG00000165659	ENSG00000276644			2663	protein-coding gene	gene with protein product		603803	"""dachshund homolog (Drosophila)"", ""dachshund homolog 1 (Drosophila)"""	DACH		9933575, 10395809, 15057823	Standard	NM_004392		Approved		uc021rkj.1	Q9UI36	OTTHUMG00000017063	ENST00000359684.2:c.1796A>G	13.37:g.72063217T>C	ENSP00000352712:p.His599Arg		D0FY35|D0FY36|O75523|O75687|Q5VYY3|Q5VYY4|Q96SG3|Q96SG4|Q9H524|Q9UMH4	Missense_Mutation	SNP	pfam_Transform_Ski,superfamily_DNA-bd_dom_put	p.H599R	ENST00000359684.2	37	c.1796		13	.	.	.	.	.	.	.	.	.	.	T	17.67	3.445965	0.63178	.	.	ENSG00000165659	ENST00000305425;ENST00000313174;ENST00000354591;ENST00000359684;ENST00000377826	T;T;T;T	0.29655	1.58;1.59;1.58;1.56	5.11	5.11	0.69529	.	0.140372	0.48767	D	0.000175	T	0.43942	0.1270	L	0.36672	1.1	0.36327	D	0.858608	B;P;D	0.55605	0.103;0.935;0.972	B;D;P	0.64042	0.085;0.921;0.822	T	0.52668	-0.8545	10	0.52906	T	0.07	-8.5249	15.1886	0.73025	0.0:0.0:0.0:1.0	.	343;397;545	Q9UI36-4;Q9UI36-3;Q9UI36-2	.;.;.	R	547;399;345;599;599	ENSP00000304994:H547R;ENSP00000318506:H399R;ENSP00000346604:H345R;ENSP00000352712:H599R	ENSP00000304994:H547R	H	-	2	0	DACH1	70961218	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.393000	0.73217	2.057000	0.61298	0.460000	0.39030	CAT	DACH1	-	NULL	ENSG00000165659		0.448	DACH1-002	KNOWN	not_organism_supported|basic	protein_coding	DACH1	HGNC	protein_coding	OTTHUMT00000045240.1	-	0.00	46	0	T	NM_004392		72063217	-1	tier1	-	no_errors	ENST00000359684	ensembl	human	known	74_37	missense	11.76	45	6	SNP	1.000	C
WASH3P	374666	genome.wustl.edu	37	15	102516816	102516816	+	RNA	SNP	G	G	T			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr15:102516816G>T	ENST00000557932.1	+	0	1679				DDX11L9_ENST00000562189.1_RNA			C4AMC7	WASH3_HUMAN	WAS protein family homolog 3 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)			central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						GGATGCAAACGTCTCGGGGTC	0.527																																																	0																																												0					15q26.3	2014-03-20	2008-01-16	2008-01-16	ENSG00000185596	ENSG00000185596		"""WAS protein homologs"""	24362	pseudogene	pseudogene			"""family with sequence similarity 39, member D pseudogene"""	FAM39DP		11701968, 18159949	Standard	NR_003659		Approved	FLJ25222	uc002cdi.3	C4AMC7	OTTHUMG00000172275		15.37:g.102516816G>T				RNA	SNP	-	NULL	ENST00000557932.1	37	NULL		15																																																																																			DDX11L9	-	-	ENSG00000248472		0.527	WASH3P-001	KNOWN	basic	processed_transcript	DDX11L9	HGNC	pseudogene	OTTHUMT00000417608.1	-	0.00	15	0	G	NM_199163		102516816	-1	tier1	-	no_errors	ENST00000559159	ensembl	human	known	74_37	rna	27.27	8	3	SNP	0.000	T
DKK2	27123	genome.wustl.edu	37	4	107845807	107845807	+	Missense_Mutation	SNP	G	G	C			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr4:107845807G>C	ENST00000285311.3	-	3	1129	c.424C>G	c.(424-426)Ctg>Gtg	p.L142V	DKK2_ENST00000513208.1_Missense_Mutation_p.L42V|DKK2_ENST00000510463.1_Missense_Mutation_p.L96V	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN	dickkopf WNT signaling pathway inhibitor 2	142					multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		GTACCATCCAGAGCCGGGATG	0.433																																																	0													227.0	210.0	216.0					4																	107845807		2203	4300	6503	SO:0001583	missense	0			AB033208	CCDS3675.1	4q25	2013-05-15	2013-05-15		ENSG00000155011	ENSG00000155011			2892	protein-coding gene	gene with protein product		605415	"""dickkopf (Xenopus laevis) homolog 2"", ""dickkopf 2 homolog (Xenopus laevis)"""			10570958	Standard	NM_014421		Approved		uc003hyi.3	Q9UBU2	OTTHUMG00000131216	ENST00000285311.3:c.424C>G	4.37:g.107845807G>C	ENSP00000285311:p.Leu142Val		A0AVE9|B2R6S7|Q9UIU3	Missense_Mutation	SNP	pfam_Dickkopf_N,superfamily_Zn2-C6_fun-type_DNA-bd	p.L142V	ENST00000285311.3	37	c.424	CCDS3675.1	4	.	.	.	.	.	.	.	.	.	.	G	13.70	2.316093	0.40996	.	.	ENSG00000155011	ENST00000285311;ENST00000513208;ENST00000510463	T;T;T	0.44482	0.92;0.95;0.93	5.75	4.9	0.64082	.	0.000000	0.64402	D	0.000001	T	0.56093	0.1962	L	0.50333	1.59	0.41557	D	0.988603	D;P	0.76494	0.999;0.649	D;B	0.63793	0.918;0.189	T	0.56986	-0.7888	10	0.59425	D	0.04	-1.4686	15.06	0.71944	0.0691:0.0:0.9309:0.0	.	142;142	Q9H3R7;Q9UBU2	.;DKK2_HUMAN	V	142;42;96	ENSP00000285311:L142V;ENSP00000421255:L42V;ENSP00000423797:L96V	ENSP00000285311:L142V	L	-	1	2	DKK2	108065256	0.839000	0.29477	1.000000	0.80357	0.978000	0.69477	0.876000	0.28092	2.717000	0.92951	0.585000	0.79938	CTG	DKK2	-	NULL	ENSG00000155011		0.433	DKK2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	DKK2	HGNC	protein_coding	OTTHUMT00000253959.4	-	0.00	49	0	G			107845807	-1	tier1	-	no_errors	ENST00000285311	ensembl	human	novel	74_37	missense	43.55	35	27	SNP	1.000	C
DNAH11	8701	genome.wustl.edu	37	7	21730409	21730409	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr7:21730409C>T	ENST00000409508.3	+	35	5982	c.5951C>T	c.(5950-5952)aCa>aTa	p.T1984I	DNAH11_ENST00000328843.6_Missense_Mutation_p.T1991I	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1991	AAA 1. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GAAGCTATCACACTGAAGCCA	0.363									Kartagener syndrome																																								0													175.0	168.0	170.0					7																	21730409		1830	4089	5919	SO:0001583	missense	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.5951C>T	7.37:g.21730409C>T	ENSP00000475939:p.Thr1984Ile		Q9UJ82	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.T1991I	ENST00000409508.3	37	c.5972		7	.	.	.	.	.	.	.	.	.	.	C	11.40	1.626929	0.28978	.	.	ENSG00000105877	ENST00000328843	T	0.09911	2.93	6.17	0.994	0.19832	ATPase, AAA+ type, core (1);	0.963953	0.08663	N	0.912031	T	0.08313	0.0207	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.36138	-0.9760	9	0.66056	D	0.02	.	5.6725	0.17731	0.1046:0.5695:0.2037:0.1222	.	1991	Q96DT5	DYH11_HUMAN	I	1991	ENSP00000330671:T1991I	ENSP00000330671:T1991I	T	+	2	0	DNAH11	21696934	0.000000	0.05858	0.069000	0.20011	0.898000	0.52572	-0.133000	0.10451	0.464000	0.27142	0.655000	0.94253	ACA	DNAH11	-	superfamily_P-loop_NTPase,smart_AAA+_ATPase	ENSG00000105877		0.363	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	DNAH11	HGNC	protein_coding	OTTHUMT00000326582.6	-	0.00	42	0	C	NM_003777		21730409	+1	tier1	-	no_errors	ENST00000328843	ensembl	human	known	74_37	missense	9.26	49	5	SNP	0.000	T
DNAH11	8701	genome.wustl.edu	37	7	21750323	21750323	+	Splice_Site	SNP	T	T	C			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr7:21750323T>C	ENST00000409508.3	+	41	6865		c.e41+2		DNAH11_ENST00000328843.6_Splice_Site	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11						microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GATAACAAGGTGAATAAAACC	0.368									Kartagener syndrome																																								0													77.0	79.0	79.0					7																	21750323		2078	4246	6324	SO:0001630	splice_region_variant	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.6834+2T>C	7.37:g.21750323T>C			Q9UJ82	Splice_Site	SNP	-	e42+2	ENST00000409508.3	37	c.6855+2		7	.	.	.	.	.	.	.	.	.	.	T	22.4	4.278960	0.80692	.	.	ENSG00000105877	ENST00000328843	.	.	.	5.98	5.98	0.97165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4696	0.84102	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	DNAH11	21716848	1.000000	0.71417	0.996000	0.52242	0.748000	0.42578	6.202000	0.72131	2.289000	0.77006	0.482000	0.46254	.	DNAH11	-	-	ENSG00000105877		0.368	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	DNAH11	HGNC	protein_coding	OTTHUMT00000326582.6	-	0.00	43	0	T	NM_003777	Intron	21750323	+1	tier1	-	no_errors	ENST00000328843	ensembl	human	known	74_37	splice_site	17.65	70	15	SNP	1.000	C
DOCK5	80005	genome.wustl.edu	37	8	25190123	25190123	+	Missense_Mutation	SNP	T	T	C			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr8:25190123T>C	ENST00000276440.7	+	20	2050	c.2006T>C	c.(2005-2007)tTg>tCg	p.L669S		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	669					positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		CTTCAGTTTTTGCAAGATACA	0.373																																					Pancreas(145;34 1887 3271 10937 30165)												0													98.0	89.0	92.0					8																	25190123		2203	4300	6503	SO:0001583	missense	0				CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.2006T>C	8.37:g.25190123T>C	ENSP00000276440:p.Leu669Ser		B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Missense_Mutation	SNP	pfam_DOCK_C,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain	p.L669S	ENST00000276440.7	37	c.2006	CCDS6047.1	8	.	.	.	.	.	.	.	.	.	.	T	24.5	4.541070	0.85917	.	.	ENSG00000147459	ENST00000276440	T	0.32988	1.43	5.86	5.86	0.93980	Armadillo-type fold (1);	0.074689	0.52532	D	0.000069	T	0.66973	0.2844	M	0.93550	3.43	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.996;0.997	T	0.76484	-0.2942	10	0.87932	D	0	.	16.5602	0.84551	0.0:0.0:0.0:1.0	.	659;444;669	D3DSS6;Q68DL4;Q9H7D0	.;.;DOCK5_HUMAN	S	669	ENSP00000276440:L669S	ENSP00000276440:L669S	L	+	2	0	DOCK5	25246040	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.967000	0.87967	2.367000	0.80283	0.528000	0.53228	TTG	DOCK5	-	superfamily_ARM-type_fold	ENSG00000147459		0.373	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK5	HGNC	protein_coding	OTTHUMT00000254955.2	-	0.00	46	0	T	NM_024940		25190123	+1	tier1	-	no_errors	ENST00000276440	ensembl	human	known	74_37	missense	34.09	29	15	SNP	1.000	C
DSC3	1825	genome.wustl.edu	37	18	28588320	28588320	+	Silent	SNP	G	G	T			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr18:28588320G>T	ENST00000360428.4	-	10	1515	c.1435C>A	c.(1435-1437)Cgg>Agg	p.R479R	DSC3_ENST00000434452.1_Silent_p.R479R	NM_001941.3	NP_001932.2	Q14574	DSC3_HUMAN	desmocollin 3	479	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|protein stabilization (GO:0050821)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			TCTTTAATCCGCACATATTGG	0.438																																																	0													97.0	87.0	91.0					18																	28588320		2203	4300	6503	SO:0001819	synonymous_variant	0			X83929	CCDS32810.1	18q12.1	2014-07-30			ENSG00000134762	ENSG00000134762		"""Cadherins / Major cadherins"""	3037	protein-coding gene	gene with protein product		600271		DSC4		7774948, 8486729	Standard	NM_001941		Approved	CDHF3, DSC, DSC1, DSC2	uc002kwj.4	Q14574	OTTHUMG00000179622	ENST00000360428.4:c.1435C>A	18.37:g.28588320G>T			A6NN35|Q14200|Q9HAZ9	Silent	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin,prints_Desmosomal_cadherin	p.R479	ENST00000360428.4	37	c.1435	CCDS32810.1	18																																																																																			DSC3	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000134762		0.438	DSC3-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_candidate_longest|CCDS	protein_coding	DSC3	HGNC	protein_coding	OTTHUMT00000447384.1		0.00	53	0	G	NM_001941, NM_024423		28588320	-1			no_errors	ENST00000360428	ensembl	human	known	74_37	silent	7.14	26	2	SNP	0.233	T
DSCR3	10311	genome.wustl.edu	37	21	38600086	38600086	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr21:38600086C>T	ENST00000309117.6	-	7	917	c.680G>A	c.(679-681)cGc>cAc	p.R227H	DSCR3_ENST00000288304.5_Missense_Mutation_p.R183H|DSCR3_ENST00000476950.1_Missense_Mutation_p.R200H|DSCR3_ENST00000399001.1_Missense_Mutation_p.R102H|DSCR3_ENST00000399000.3_5'UTR|DSCR3_ENST00000539844.1_Missense_Mutation_p.R150H|DSCR3_ENST00000398998.1_Missense_Mutation_p.R179H|AP001432.14_ENST00000440629.1_lincRNA	NM_006052.1	NP_006043.1	O14972	DSCR3_HUMAN	Down syndrome critical region gene 3	227						nucleus (GO:0005634)		p.R227H(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9						CGTGGCGTCGCGGGCATAGCC	0.647																																																	1	Substitution - Missense(1)	endometrium(1)											101.0	84.0	89.0					21																	38600086		2203	4300	6503	SO:0001583	missense	0			D87343	CCDS33553.1	21q22.2	2008-05-22			ENSG00000157538	ENSG00000157538			3044	protein-coding gene	gene with protein product		605298				9399594	Standard	NM_006052		Approved	DCRA	uc002ywf.1	O14972	OTTHUMG00000086659	ENST00000309117.6:c.680G>A	21.37:g.38600086C>T	ENSP00000311399:p.Arg227His		B2R6T8|B7Z6B1|D3DSH4|Q2TAY6	Missense_Mutation	SNP	pfam_VPS26,pfam_Arrestin-like_N,superfamily_Ig_E-set	p.R227H	ENST00000309117.6	37	c.680	CCDS33553.1	21	.	.	.	.	.	.	.	.	.	.	C	35	5.530020	0.96446	.	.	ENSG00000157538	ENST00000309117;ENST00000288304;ENST00000539844;ENST00000399001;ENST00000476950;ENST00000398998	.	.	.	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	D	0.84160	0.5411	M	0.87827	2.91	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.81914	0.995;0.991;0.993;0.973	D	0.84672	0.0712	9	0.40728	T	0.16	-17.306	18.9084	0.92472	0.0:1.0:0.0:0.0	.	102;150;200;227	A8MY26;B7Z606;B7Z6B1;O14972	.;.;.;DSCR3_HUMAN	H	227;183;150;102;200;179	.	ENSP00000288304:R183H	R	-	2	0	DSCR3	37521956	1.000000	0.71417	0.708000	0.30435	0.931000	0.56810	7.792000	0.85828	2.546000	0.85860	0.650000	0.86243	CGC	DSCR3	-	pfam_VPS26	ENSG00000157538		0.647	DSCR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCR3	HGNC	protein_coding	OTTHUMT00000194807.1		0.00	57	0	C			38600086	-1			no_errors	ENST00000309117	ensembl	human	known	74_37	missense	6.45	58	4	SNP	0.997	T
DSCAM	1826	genome.wustl.edu	37	21	41648175	41648175	+	Silent	SNP	C	C	T			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr21:41648175C>T	ENST00000400454.1	-	11	2682	c.2205G>A	c.(2203-2205)caG>caA	p.Q735Q		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	735	Ig-like C2-type 8.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GGGCAATTGGCTGGAACTGGG	0.493																																					Melanoma(134;970 1778 1785 21664 32388)												0													70.0	69.0	70.0					21																	41648175		1961	4185	6146	SO:0001819	synonymous_variant	0			AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.2205G>A	21.37:g.41648175C>T			O60468	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.Q735	ENST00000400454.1	37	c.2205	CCDS42929.1	21																																																																																			DSCAM	-	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	ENSG00000171587		0.493	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAM	HGNC	protein_coding	OTTHUMT00000195029.1	-	0.00	30	0	C	NM_001389		41648175	-1	tier1	-	no_errors	ENST00000400454	ensembl	human	known	74_37	silent	11.11	24	3	SNP	1.000	T
DTX2	113878	genome.wustl.edu	37	7	76129758	76129758	+	Splice_Site	SNP	G	G	A	rs147644708		TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr7:76129758G>A	ENST00000324432.5	+	8	1661	c.1151G>A	c.(1150-1152)gGa>gAa	p.G384E	DTX2_ENST00000446820.2_Splice_Site_p.G337E|DTX2_ENST00000446600.1_Splice_Site_p.G293E|DTX2_ENST00000307569.8_Splice_Site_p.G337E|DTX2_ENST00000413936.2_Splice_Site_p.G384E|DTX2_ENST00000430490.2_Splice_Site_p.G384E	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex 2, E3 ubiquitin ligase	384			G -> E (in dbSNP:rs1638152). {ECO:0000269|PubMed:10819331, ECO:0000269|PubMed:12670957, ECO:0000269|PubMed:15489334}.		Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						TCTCTTCTAGGAGCGACCCCG	0.567																																																	0													2.0	3.0	3.0					7																	76129758		1198	3039	4237	SO:0001630	splice_region_variant	0				CCDS5587.1, CCDS43605.1	7q11.23	2014-01-28	2014-01-28		ENSG00000091073	ENSG00000091073		"""RING-type (C3HC4) zinc fingers"""	15973	protein-coding gene	gene with protein product		613141	"""deltex (Drosophila) homolog 2"", ""deltex homolog 2 (Drosophila)"""			12670957	Standard	NM_020892		Approved	RNF58, KIAA1528	uc003ufh.4	Q86UW9	OTTHUMG00000162594	ENST00000324432.5:c.1151-1G>A	7.37:g.76129758G>A			Q6XM87|Q6XM88|Q96H69|Q9H890|Q9P200	Missense_Mutation	SNP	pfam_WWE-dom,smart_WWE-dom_subgr,smart_Znf_RING,pfscan_WWE-dom,pfscan_Znf_RING	p.G384E	ENST00000324432.5	37	c.1151	CCDS5587.1	7	.	.	.	.	.	.	.	.	.	.	.	9.359	1.067449	0.20067	.	.	ENSG00000091073	ENST00000324432;ENST00000307569;ENST00000541989;ENST00000446600;ENST00000413936;ENST00000430490;ENST00000446820	T;T;T;T;T;T	0.11821	2.84;2.74;2.84;2.84;2.84;2.74	4.31	2.26	0.28386	.	0.555878	0.18661	N	0.134738	T	0.18002	0.0432	L	0.29908	0.895	0.36128	P	0.15403599999999995	B;D;D;B	0.89917	0.009;0.986;1.0;0.003	B;P;D;B	0.77557	0.009;0.796;0.99;0.004	T	0.18461	-1.0336	9	0.20046	T	0.44	.	5.3155	0.15852	0.1218:0.3006:0.5776:0.0	.	293;15;337;384	F5GX89;Q6P2H0;Q86UW9-2;Q86UW9	.;.;.;DTX2_HUMAN	E	384;337;293;293;384;384;337	ENSP00000322885:G384E;ENSP00000305242:G337E;ENSP00000397648:G293E;ENSP00000390218:G384E;ENSP00000411986:G384E;ENSP00000392545:G337E	ENSP00000305242:G337E	G	+	2	0	AC005522.1	75967694	0.730000	0.28100	0.990000	0.47175	0.470000	0.32858	1.148000	0.31614	1.091000	0.41335	0.655000	0.94253	GGA	DTX2	-	NULL	ENSG00000091073		0.567	DTX2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DTX2	HGNC	protein_coding	OTTHUMT00000253104.2	-	0.00	20	0	G		Missense_Mutation	76129758	+1	tier1	rs147644708	no_errors	ENST00000324432	ensembl	human	known	74_37	missense	66.67	1	2	SNP	0.938	A
EEF1DP3	196549	genome.wustl.edu	37	13	32527507	32527508	+	RNA	DEL	GT	GT	-	rs369428918		TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	GT	GT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr13:32527507_32527508delGT	ENST00000428783.1	+	0	1207_1208							Q658K8	EF1DL_HUMAN	eukaryotic translation elongation factor 1 delta pseudogene 3								translation elongation factor activity (GO:0003746)										TCTGGCCTGAGTGTGTGTGTGT	0.46																																																	0																																												0					13q13.1	2012-10-23			ENSG00000229715	ENSG00000229715			30486	pseudogene	pseudogene						12477932	Standard	NR_027062		Approved		uc001utu.3	Q658K8	OTTHUMG00000016691		13.37:g.32527517_32527518delGT			Q08AR3	RNA	DEL	-	NULL	ENST00000428783.1	37	NULL		13																																																																																			EEF1DP3	-	-	ENSG00000229715		0.460	EEF1DP3-001	KNOWN	basic	processed_transcript	EEF1DP3	HGNC	pseudogene	OTTHUMT00000044400.2		0.00	22	0	GT	NR_027062		32527508	+1	tier1		no_errors	ENST00000428783	ensembl	human	known	74_37	rna	7.41	25	2	DEL	0.006:0.035	-
EEF2	1938	genome.wustl.edu	37	19	3982327	3982327	+	Silent	SNP	G	G	A			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr19:3982327G>A	ENST00000309311.6	-	5	796	c.708C>T	c.(706-708)ttC>ttT	p.F236F	EEF2_ENST00000600720.1_5'Flank|SNORD37_ENST00000384048.1_RNA	NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	236	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|hematopoietic progenitor cell differentiation (GO:0002244)|positive regulation of gene expression (GO:0010628)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation activator activity (GO:0008494)|translation elongation factor activity (GO:0003746)			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTTGGCGGCGAACTTGGCCA	0.622																																					Colon(165;1804 1908 4071 6587 18799)												0													84.0	80.0	82.0					19																	3982327		2203	4300	6503	SO:0001819	synonymous_variant	0			Z11692	CCDS12117.1	19p13.3	2012-09-20			ENSG00000167658	ENSG00000167658			3214	protein-coding gene	gene with protein product	"""polypeptidyl-tRNA translocase"""	130610		EF2		2610926, 6427766	Standard	NM_001961		Approved	EEF-2	uc002lze.3	P13639		ENST00000309311.6:c.708C>T	19.37:g.3982327G>A			B2RMP5|D6W618|Q58J86	Silent	SNP	pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFG/EF2_IV,pfam_EFG_V,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Transl_B-barrel,superfamily_EFG_III-V,smart_Transl_elong_EFG/EF2_IV,smart_EFG_V,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom	p.F236	ENST00000309311.6	37	c.708	CCDS12117.1	19																																																																																			EEF2	-	pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase	ENSG00000167658		0.622	EEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EEF2	HGNC	protein_coding	OTTHUMT00000457615.2		0.00	45	0	G	NM_001961		3982327	-1			no_errors	ENST00000309311	ensembl	human	known	74_37	silent	11.11	24	3	SNP	1.000	A
EML3	256364	genome.wustl.edu	37	11	62372637	62372638	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	CA	CA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr11:62372637_62372638delCA	ENST00000394773.2	-	16	2236_2237	c.1929_1930delTG	c.(1927-1932)tgtgctfs	p.A644fs	EML3_ENST00000531557.1_Frame_Shift_Del_p.A427fs|RP11-831H9.3_ENST00000532626.1_RNA|EML3_ENST00000494176.2_Frame_Shift_Del_p.A616fs|EML3_ENST00000529309.1_Frame_Shift_Del_p.A644fs|EML3_ENST00000278845.4_Frame_Shift_Del_p.A645fs|EML3_ENST00000438258.1_5'Flank	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like 3	644						cytoplasm (GO:0005737)|microtubule (GO:0005874)				biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TGGAAGTCAGCACAGAGACCAG	0.564																																																	0																																										SO:0001589	frameshift_variant	0			AK093146	CCDS8023.2	11q12.3	2013-01-10			ENSG00000149499	ENSG00000149499		"""WD repeat domain containing"""	26666	protein-coding gene	gene with protein product						15225882, 14744259	Standard	NM_153265		Approved	FLJ35827, ELP95	uc001ntu.1	Q32P44	OTTHUMG00000149817	ENST00000394773.2:c.1929_1930delTG	11.37:g.62372639_62372640delCA	ENSP00000378254:p.Ala644fs		Q6ZQW7|Q8NA55	Frame_Shift_Del	DEL	pfam_HELP,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.A644fs	ENST00000394773.2	37	c.1930_1929	CCDS8023.2	11																																																																																			EML3	-	superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom	ENSG00000149499		0.564	EML3-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	EML3	HGNC	protein_coding	OTTHUMT00000313432.1		0.00	64	0	CA	NM_153265		62372638	-1	tier1		no_errors	ENST00000529309	ensembl	human	known	74_37	frame_shift_del	64.91	20	37	DEL	1.000:1.000	-
ENOX1	55068	genome.wustl.edu	37	13	43986993	43986994	+	Missense_Mutation	DNP	TC	TC	AA			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	T|C	T|C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr13:43986993_43986994TC>AA	ENST00000261488.6	-	4	634_635	c.57_58GA>TT	c.(55-60)caGAtg>caTTtg	p.19_20QM>HL	ENOX1_ENST00000412891.1_Missense_Mutation_p.19_20QM>HL	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	19					rhythmic process (GO:0048511)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		GCAGCCATCATCTGAGGAAGCT	0.475																																																	0																																										SO:0001583	missense	0			EF432052	CCDS9389.1	13q14.11	2013-02-12			ENSG00000120658	ENSG00000120658		"""RNA binding motif (RRM) containing"""	25474	protein-coding gene	gene with protein product		610914				11360993	Standard	NM_001127615		Approved	FLJ10094, PIG38, CNOX, cCNOX	uc001uza.4	Q8TC92	OTTHUMG00000016818	ENST00000261488.6:c.57_58delinsAA	13.37:g.43986993_43986994delinsAA	ENSP00000261488:p.Q19_M20delinsHL		A4GU15|A6NMH9|B7Z5K1|Q2TU81|Q5VT11|Q9NWE0	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.M20L|p.Q19H	ENST00000261488.6	37	c.58|c.57	CCDS9389.1	13																																																																																			ENOX1	-	NULL	ENSG00000120658		0.475	ENOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENOX1	HGNC	protein_coding	OTTHUMT00000044717.2	-	0.00	66|65	0	T|C	NM_017993		43986993|43986994	-1	tier1	-	no_errors	ENST00000261488	ensembl	human	known	74_37	missense	38.60	35	22	SNP	1.000	A
IMMP2L	83943	genome.wustl.edu	37	7	110568408	110568409	+	Intron	DEL	CA	CA	-	rs13230194|rs71692948|rs202224708|rs58639346	byFrequency	TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	CA	CA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr7:110568408_110568409delCA	ENST00000405709.2	-	4	748				IMMP2L_ENST00000331762.3_Intron|AC005161.1_ENST00000408352.1_RNA|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000452895.1_Intron	NM_032549.3	NP_115938.1	Q96T52	IMP2L_HUMAN	IMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae)						ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|protein processing involved in protein targeting to mitochondrion (GO:0006627)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|mitochondrial inner membrane peptidase complex (GO:0042720)	peptidase activity (GO:0008233)|serine-type peptidase activity (GO:0008236)			endometrium(3)|large_intestine(6)|lung(5)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.053)|Epithelial(3;2.27e-07)|all cancers(3;1.36e-05)|STAD - Stomach adenocarcinoma(3;0.00148)|KIRC - Kidney renal clear cell carcinoma(11;0.0339)|Lung(3;0.0375)|Kidney(11;0.0415)|LUSC - Lung squamous cell carcinoma(290;0.173)		TATGTACCTGcacacacacaca	0.317																																																	0																																										SO:0001627	intron_variant	0			AF359563	CCDS5753.1	7q31	2014-01-06	2005-08-17		ENSG00000184903	ENSG00000184903			14598	protein-coding gene	gene with protein product		605977	"""IMP2 inner mitochondrial membrane protease-like (S. cerevisiae)"", ""IMMP2L intronic transcript 1 (non-protein coding)"""	IMMP2L-IT1		11254443	Standard	NM_032549		Approved	IMP2	uc010ljr.2	Q96T52	OTTHUMG00000155023	ENST00000405709.2:c.305+35146TG>-	7.37:g.110568418_110568419delCA			Q75MF1|Q75MN9|Q75MP0|Q75MS5|Q75MS8|Q96HJ2	RNA	DEL	-	NULL	ENST00000405709.2	37	NULL	CCDS5753.1	7																																																																																			AC005161.1	-	-	ENSG00000221279		0.317	IMMP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000221279	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000338109.4		0.00	10	0	CA	NM_032549		110568409	+1	tier1		no_errors	ENST00000408352	ensembl	human	novel	74_37	rna	50.00	3	3	DEL	0.000:0.003	-
FAM27B	100133121	genome.wustl.edu	37	9	67793683	67793683	+	Intron	SNP	A	A	T			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr9:67793683A>T	ENST00000377484.3	-	1	215				RP11-12A20.7_ENST00000315762.5_RNA			Q5VT28	FAM27_HUMAN	family with sequence similarity 27, member B																		acacacacacacactcacaca	0.512																																																	0																																										SO:0001627	intron_variant	0					9q13	2014-05-06			ENSG00000170215	ENSG00000278763			23667	other	unknown							Standard	NR_027422		Approved	bA12A20.3, FAM27A2	uc004aet.4	Q5VT28	OTTHUMG00000188586	ENST00000377484.3:c.78+213T>A	9.37:g.67793683A>T				RNA	SNP	-	NULL	ENST00000377484.3	37	NULL		9																																																																																			RP11-12A20.7	-	-	ENSG00000236233		0.512	FAM27B-001	KNOWN	basic|appris_principal	protein_coding	ENSG00000236233	Clone_based_vega_gene	protein_coding	OTTHUMT00000037106.1		0.00	12	0	A	NR_027422		67793683	+1			no_errors	ENST00000315762	ensembl	human	known	74_37	rna	25.00	12	4	SNP	0.063	T
RP11-146E13.4	0	genome.wustl.edu	37	14	19856372	19856372	+	lincRNA	SNP	A	A	G			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr14:19856372A>G	ENST00000548109.1	+	0	72																											TATACGTGGGAAAAAAAAAAG	0.358																																																	0																																												0																															14.37:g.19856372A>G				RNA	SNP	-	NULL	ENST00000548109.1	37	NULL		14																																																																																			CTD-2314B22.3	-	-	ENSG00000244306		0.358	RP11-146E13.4-001	KNOWN	basic	lincRNA	ENSG00000244306	Clone_based_vega_gene	lincRNA	OTTHUMT00000409408.1		0.00	13	0	A			19856372	-1			no_errors	ENST00000551334	ensembl	human	known	74_37	rna	15.00	17	3	SNP	0.001	G
RP11-93K22.13	0	genome.wustl.edu	37	3	129813035	129813036	+	lincRNA	DNP	GC	GC	AA			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	G|C	G|C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr3:129813035_129813036GC>AA	ENST00000514010.1	-	0	111_112				ALG1L2_ENST00000507643.1_RNA|AC083906.2_ENST00000578837.1_RNA																							CAGGTGCAGGGCTATGCATCAG	0.644																																																	0																																												0																														Exception_encountered	3.37:g.129813035_129813036delinsAA				RNA	SNP	-	NULL	ENST00000514010.1	37	NULL		3																																																																																			RP11-93K22.13	-	-	ENSG00000248243		0.644	RP11-93K22.13-001	KNOWN	basic	lincRNA	ENSG00000248243	Clone_based_vega_gene	lincRNA	OTTHUMT00000358040.1	-	0.00	14|15	0	G|C			129813035|129813036	-1	tier1	-	no_errors	ENST00000514010	ensembl	human	known	74_37	rna	30.43|32.00	16|17	7|8	SNP	0.007|0.003	A
RP11-725P16.2	0	genome.wustl.edu	37	2	133104171	133104172	+	lincRNA	INS	-	-	T	rs398080609|rs397706501|rs564250029|rs59092614	byFrequency	TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr2:133104171_133104172insT	ENST00000608279.1	-	0	698_699																											GGTTGCATCTGTTTTTTTTTGT	0.436																																																	0																																												0																															2.37:g.133104180_133104180dupT				RNA	INS	-	NULL	ENST00000608279.1	37	NULL		2																																																																																			RP11-725P16.2	-	-	ENSG00000272769		0.436	RP11-725P16.2-001	KNOWN	basic	lincRNA	ENSG00000272769	Clone_based_vega_gene	lincRNA	OTTHUMT00000472122.1		0.00	8	0	-			133104172	-1	tier1		no_errors	ENST00000608279	ensembl	human	known	74_37	rna	66.67	3	6	INS	0.046:0.010	T
EPHA2	1969	genome.wustl.edu	37	1	16460076	16460076	+	Silent	SNP	G	G	A	rs148209354		TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr1:16460076G>A	ENST00000358432.5	-	10	1918	c.1764C>T	c.(1762-1764)taC>taT	p.Y588Y		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	588					activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|axial mesoderm formation (GO:0048320)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|ephrin receptor signaling pathway (GO:0048013)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinocyte differentiation (GO:0030216)|lens fiber cell morphogenesis (GO:0070309)|mammary gland epithelial cell proliferation (GO:0033598)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase B signaling (GO:0051898)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|notochord cell development (GO:0060035)|notochord formation (GO:0014028)|osteoblast differentiation (GO:0001649)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|post-anal tail morphogenesis (GO:0036342)|protein kinase B signaling (GO:0043491)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of lamellipodium assembly (GO:0010591)|response to growth factor (GO:0070848)|skeletal system development (GO:0001501)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell projection (GO:0042995)|cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)|Regorafenib(DB08896)	GGGGGTCCACGTATGTCTTCA	0.582																																																	0								G		2,4404	4.2+/-10.8	0,2,2201	74.0	70.0	71.0		1764	-10.8	0.0	1	dbSNP_134	71	0,8598		0,0,4299	no	coding-synonymous	EPHA2	NM_004431.3		0,2,6500	AA,AG,GG		0.0,0.0454,0.0154		588/977	16460076	2,13002	2203	4299	6502	SO:0001819	synonymous_variant	0			BC037166	CCDS169.1	1p36	2013-02-11	2004-10-28		ENSG00000142627	ENSG00000142627	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3386	protein-coding gene	gene with protein product		176946	"""EphA2"""	ECK		9119409	Standard	NM_004431		Approved		uc001aya.2	P29317	OTTHUMG00000009527	ENST00000358432.5:c.1764C>T	1.37:g.16460076G>A			B5A968|Q8N3Z2	Silent	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom	p.Y588	ENST00000358432.5	37	c.1764	CCDS169.1	1																																																																																			EPHA2	-	pirsf_Tyr_kinase_ephrin_rcpt,superfamily_Kinase-like_dom	ENSG00000142627		0.582	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA2	HGNC	protein_coding	OTTHUMT00000026322.1	-	0.00	39	0	G	NM_004431		16460076	-1	tier1	rs148209354	no_errors	ENST00000358432	ensembl	human	known	74_37	silent	50.00	25	25	SNP	0.126	A
FAM177A1	283635	genome.wustl.edu	37	14	35515698	35515698	+	Intron	SNP	T	T	C			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr14:35515698T>C	ENST00000382406.3	+	2	29				FAM177A1_ENST00000396472.1_Intron|FAM177A1_ENST00000554052.1_3'UTR|FAM177A1_ENST00000280987.4_Missense_Mutation_p.L10P			Q8N128	F177A_HUMAN	family with sequence similarity 177, member A1											breast(1)|large_intestine(1)|lung(2)|urinary_tract(1)	5						GCCATTACCCTCTTTCTCACC	0.682																																																	0													17.0	20.0	19.0					14																	35515698		2198	4299	6497	SO:0001627	intron_variant	0			BG722411	CCDS9653.2, CCDS41944.1	14q13.2	2008-07-09	2008-07-09	2008-07-09	ENSG00000151327	ENSG00000151327			19829	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 24"""	C14orf24			Standard	NM_001079519		Approved		uc001wsq.3	Q8N128	OTTHUMG00000140217	ENST00000382406.3:c.-28-13T>C	14.37:g.35515698T>C			Q68CT2	Missense_Mutation	SNP	NULL	p.L10P	ENST00000382406.3	37	c.29	CCDS41944.1	14	.	.	.	.	.	.	.	.	.	.	T	13.36	2.214825	0.39102	.	.	ENSG00000151327	ENST00000280987	.	.	.	4.36	4.36	0.52297	.	0.000000	0.30658	U	0.009146	T	0.61060	0.2317	.	.	.	0.58432	D	0.999999	P	0.51537	0.946	P	0.48627	0.584	T	0.67252	-0.5717	8	0.87932	D	0	.	12.2305	0.54484	0.0:0.0:0.0:1.0	.	10	Q8N128-2	.	P	10	.	ENSP00000280987:L10P	L	+	2	0	FAM177A1	34585449	0.021000	0.18746	0.051000	0.19133	0.351000	0.29236	2.457000	0.45005	1.959000	0.56917	0.260000	0.18958	CTC	FAM177A1	-	NULL	ENSG00000151327		0.682	FAM177A1-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	FAM177A1	HGNC	protein_coding	OTTHUMT00000410816.1	-	0.00	58	0	T	NM_173607		35515698	+1	tier1	-	no_errors	ENST00000280987	ensembl	human	known	74_37	missense	16.17	280	54	SNP	0.012	C
FAM230B	642633	genome.wustl.edu	37	22	21538257	21538257	+	RNA	SNP	G	G	C			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr22:21538257G>C	ENST00000451257.1	+	0	1243									family with sequence similarity 230, member B (non-protein coding)																		ACGCCGCCCAGGGCATCGCCA	0.721																																																	0																																												0			BC039313, AK128837		22q11.21	2014-01-24	2014-01-06		ENSG00000215498	ENSG00000215498			32943	non-coding RNA	RNA, long non-coding			"""family with sequence similarity 230, member B"""				Standard	NR_108107		Approved	FLJ46366			OTTHUMG00000150782		22.37:g.21538257G>C				RNA	SNP	-	NULL	ENST00000451257.1	37	NULL		22																																																																																			FAM230B	-	-	ENSG00000215498		0.721	FAM230B-002	KNOWN	basic	lincRNA	FAM230B	HGNC	processed_transcript	OTTHUMT00000320063.1	-	0.00	26	0	G	NR_108107		21538257	+1	tier1	-	no_errors	ENST00000451257	ensembl	human	known	74_37	rna	38.46	16	10	SNP	0.000	C
FCGR3A	2214	genome.wustl.edu	37	1	161519619	161519619	+	Intron	SNP	C	C	T			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr1:161519619C>T	ENST00000436743.1	-	2	93				RP11-25K21.6_ENST00000537821.2_RNA|FCGR3A_ENST00000540048.1_Intron|FCGR3A_ENST00000367969.3_Missense_Mutation_p.G6R|FCGR3A_ENST00000443193.1_Missense_Mutation_p.G6R|FCGR3A_ENST00000476031.1_5'Flank	NM_001127593.1|NM_001127595.1|NM_001127596.1	NP_001121065.1|NP_001121067.1|NP_001121068.1	P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)						Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G6R(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AGCCTTTCCCCAGCCCCTCCA	0.512																																																	1	Substitution - Missense(1)	lung(1)											117.0	109.0	112.0					1																	161519619		2203	4300	6503	SO:0001627	intron_variant	0			BC036723	CCDS1232.1, CCDS44266.1	1q23	2014-09-17	2005-02-02		ENSG00000203747	ENSG00000203747		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3619	protein-coding gene	gene with protein product		146740	"""Fc fragment of IgG, low affinity IIIa, receptor for (CD16)"""	FCGR3, FCG3		2139735	Standard	NM_001127592		Approved	CD16, CD16a	uc001gar.3	P08637	OTTHUMG00000034466	ENST00000436743.1:c.62-31G>A	1.37:g.161519619C>T			A2N6W9|Q53FJ0|Q53FL6|Q5EBR4|Q65ZM6|Q6PIJ0	Missense_Mutation	SNP	smart_Ig_sub,pfscan_Ig-like_dom	p.G6R	ENST00000436743.1	37	c.16	CCDS44266.1	1	.	.	.	.	.	.	.	.	.	.	C	15.22	2.768268	0.49680	.	.	ENSG00000203747	ENST00000367969;ENST00000443193	T;T	0.02015	4.5;4.52	4.32	-0.819	0.10829	.	.	.	.	.	T	0.00468	0.0015	N	0.14661	0.345	0.09310	N	1	B	0.26935	0.164	B	0.20767	0.031	T	0.46190	-0.9209	9	0.87932	D	0	.	3.9369	0.09310	0.1619:0.5224:0.0:0.3158	.	6	E9PG94	.	R	6	ENSP00000356946:G6R;ENSP00000392047:G6R	ENSP00000356946:G6R	G	-	1	0	FCGR3A	159786243	0.001000	0.12720	0.000000	0.03702	0.073000	0.16967	0.009000	0.13219	-0.251000	0.09542	0.591000	0.81541	GGG	FCGR3A	-	NULL	ENSG00000203747		0.512	FCGR3A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGR3A	HGNC	protein_coding	OTTHUMT00000102169.2	-	0.00	75	0	C	NM_000569		161519619	-1	tier1	-	no_errors	ENST00000367969	ensembl	human	known	74_37	missense	20.59	54	14	SNP	0.000	T
FILIP1L	11259	genome.wustl.edu	37	3	99568272	99568273	+	Frame_Shift_Ins	INS	-	-	T			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr3:99568272_99568273insT	ENST00000354552.3	-	5	2717_2718	c.2247_2248insA	c.(2245-2250)aaactafs	p.L750fs	FILIP1L_ENST00000476723.1_Intron|FILIP1L_ENST00000487087.1_Frame_Shift_Ins_p.L326fs|CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000331335.5_Frame_Shift_Ins_p.L750fs|FILIP1L_ENST00000471562.1_Frame_Shift_Ins_p.L510fs|CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000383694.2_Frame_Shift_Ins_p.L510fs	NM_182909.2	NP_878913.2	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	750						cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						TGTTGATTTAGTTTTTTTTGCA	0.406																																																	0																																										SO:0001589	frameshift_variant	0				CCDS43117.1, CCDS43118.1, CCDS43119.1, CCDS63700.1, CCDS74969.1	3q12.1	2011-10-21			ENSG00000168386	ENSG00000168386			24589	protein-coding gene	gene with protein product	"""downregulated in ovarian cancer 1"", ""GPBP-interacting protein of 130 kDa"""	612993				8314147, 15935955, 21832087	Standard	NM_001282793		Approved	DOC-1, GIP130	uc003dtm.3	Q4L180	OTTHUMG00000159055	ENST00000354552.3:c.2248dupA	3.37:g.99568280_99568280dupT	ENSP00000346560:p.Leu750fs		B2CNV7|B2CNV8|Q13597|Q2YDY5|Q6KFX5|Q6KFX6|Q6KFX7|Q8IUM3|Q8N6Z0	Frame_Shift_Ins	INS	pfam_Cortactin-binding_p2_N,superfamily_Prefoldin,prints_Tropomyosin	p.L749fs	ENST00000354552.3	37	c.2248_2247	CCDS43117.1	3																																																																																			FILIP1L	-	superfamily_Prefoldin	ENSG00000168386		0.406	FILIP1L-001	KNOWN	basic|CCDS	protein_coding	FILIP1L	HGNC	protein_coding	OTTHUMT00000353069.1		0.00	42	0	-	NM_014890		99568273	-1	tier1		no_errors	ENST00000354552	ensembl	human	known	74_37	frame_shift_ins	8.33	22	2	INS	1.000:1.000	T
FREM3	166752	genome.wustl.edu	37	4	144614306	144614306	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr4:144614306G>T	ENST00000329798.5	-	2	5234	c.5235C>A	c.(5233-5235)aaC>aaA	p.N1745K		NM_001168235.1	NP_001161707.1	P0C091	FREM3_HUMAN	FRAS1 related extracellular matrix 3	1745					cell adhesion (GO:0007155)|cell communication (GO:0007154)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|prostate(1)	8						CCTTTGATGCGTTGCTGCCCT	0.343																																																	0													230.0	180.0	195.0					4																	144614306		692	1591	2283	SO:0001583	missense	0			BX091796	CCDS54808.1	4q31.21	2011-06-09			ENSG00000183090	ENSG00000183090			25172	protein-coding gene	gene with protein product		608946				15345741	Standard	NM_001168235		Approved		uc021xsj.1	P0C091	OTTHUMG00000161577	ENST00000329798.5:c.5235C>A	4.37:g.144614306G>T	ENSP00000332886:p.Asn1745Lys			Missense_Mutation	SNP	pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta	p.N1745K	ENST00000329798.5	37	c.5235	CCDS54808.1	4	.	.	.	.	.	.	.	.	.	.	G	7.740	0.701179	0.15172	.	.	ENSG00000183090	ENST00000329798	T	0.19394	2.15	4.7	-9.41	0.00613	.	0.596932	0.16358	N	0.217933	T	0.10981	0.0268	L	0.55743	1.74	0.34938	D	0.750023	.	.	.	.	.	.	T	0.47249	-0.9132	8	0.06891	T	0.86	-0.708	0.2659	0.00225	0.3161:0.2426:0.221:0.2203	.	.	.	.	K	1745	ENSP00000332886:N1745K	ENSP00000332886:N1745K	N	-	3	2	FREM3	144833756	0.896000	0.30565	0.000000	0.03702	0.353000	0.29299	0.037000	0.13840	-2.290000	0.00667	-1.140000	0.01884	AAC	FREM3	-	NULL	ENSG00000183090		0.343	FREM3-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	FREM3	HGNC	protein_coding	OTTHUMT00000365391.1		0.00	44	0	G	XM_094074		144614306	-1			no_errors	ENST00000329798	ensembl	human	putative	74_37	missense	6.25	30	2	SNP	0.948	T
FUT5	2527	genome.wustl.edu	37	19	5867206	5867206	+	Silent	SNP	G	G	A			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr19:5867206G>A	ENST00000588525.1	-	2	618	c.531C>T	c.(529-531)gaC>gaT	p.D177D	FUT5_ENST00000252675.5_Silent_p.D177D	NM_002034.2	NP_002025.2	Q11128	FUT5_HUMAN	fucosyltransferase 5 (alpha (1,3) fucosyltransferase)	177					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity (GO:0017060)|alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						GCGTGAAGATGTCGGAGTCGC	0.652																																																	0													36.0	31.0	33.0					19																	5867206		2201	4292	6493	SO:0001819	synonymous_variant	0				CCDS12154.1	19p13.3	2013-02-26				ENSG00000130383	2.4.1.65	"""Fucosyltransferases"""	4016	protein-coding gene	gene with protein product		136835				1740457	Standard	NM_002034		Approved	FUC-TV	uc002mdo.4	Q11128	OTTHUMG00000180616	ENST00000588525.1:c.531C>T	19.37:g.5867206G>A			A8K4X2	Silent	SNP	pfam_Glyco_trans_10	p.D177	ENST00000588525.1	37	c.531	CCDS12154.1	19																																																																																			FUT5	-	pfam_Glyco_trans_10	ENSG00000130383		0.652	FUT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FUT5	HGNC	protein_coding	OTTHUMT00000452213.1	-	0.00	42	0	G	NM_002034		5867206	-1	tier1	-	no_errors	ENST00000252675	ensembl	human	known	74_37	silent	17.95	32	7	SNP	0.996	A
ZBTB37	84614	genome.wustl.edu	37	1	173835048	173835048	+	5'Flank	SNP	G	G	A			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr1:173835048G>A	ENST00000427304.1	+	0	0				GAS5_ENST00000365524.1_RNA|GAS5-AS1_ENST00000602767.1_RNA|ZBTB37_ENST00000367702.1_5'Flank|GAS5_ENST00000364822.2_RNA|GAS5_ENST00000385578.2_RNA|ZBTB37_ENST00000432989.1_5'Flank|SNORD78_ENST00000385582.1_RNA|GAS5_ENST00000363146.1_RNA|GAS5_ENST00000363859.1_RNA|ZBTB37_ENST00000367704.1_5'Flank|GAS5_ENST00000363840.1_RNA|GAS5_ENST00000364084.1_RNA	NM_001122770.1	NP_001116242.1	Q5TC79	ZBT37_HUMAN	zinc finger and BTB domain containing 37						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(4)	13						AAATAAGAGTGGTCTTAGAAT	0.393																																																	0																																										SO:0001631	upstream_gene_variant	0			AK057310	CCDS1312.1, CCDS44278.1	1q24.2	2013-01-08			ENSG00000185278	ENSG00000185278		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	28365	protein-coding gene	gene with protein product						12477932	Standard	NM_032522		Approved	MGC2629, ZNF908	uc009wwp.1	Q5TC79	OTTHUMG00000037274		1.37:g.173835048G>A	Exception_encountered		Q5TC80|Q96M87|Q9BQ88	RNA	SNP	-	NULL	ENST00000427304.1	37	NULL	CCDS44278.1	1																																																																																			GAS5	-	-	ENSG00000234741		0.393	ZBTB37-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GAS5	HGNC	protein_coding		-	0.00	62	0	G	NM_032522		173835048	-1	tier1	-	no_errors	ENST00000425771	ensembl	human	known	74_37	rna	6.56	57	4	SNP	0.000	A
GIF	2694	genome.wustl.edu	37	11	59610015	59610015	+	Missense_Mutation	SNP	C	C	G			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr11:59610015C>G	ENST00000257248.2	-	4	459	c.412G>C	c.(412-414)Gcg>Ccg	p.A138P	GIF_ENST00000541311.1_Missense_Mutation_p.A113P	NM_005142.2	NP_005133.2	P27352	IF_HUMAN	gastric intrinsic factor (vitamin B synthesis)	138					cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|lysosomal lumen (GO:0043202)|microvillus (GO:0005902)	cobalamin binding (GO:0031419)			large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17					Cyanocobalamin(DB00115)	GCCAAGATCGCTAGACTGGGC	0.562																																					NSCLC(53;1139 1245 16872 38474 42853)												0													91.0	77.0	82.0					11																	59610015		2201	4295	6496	SO:0001583	missense	0			X76562	CCDS7977.1	11q12.1	2013-09-20			ENSG00000134812	ENSG00000134812			4268	protein-coding gene	gene with protein product		609342				2071148	Standard	NM_005142		Approved	TCN3, IF, IFMH, INF	uc001noi.3	P27352	OTTHUMG00000167399	ENST00000257248.2:c.412G>C	11.37:g.59610015C>G	ENSP00000257248:p.Ala138Pro		B2RAN8|B4DVZ1	Missense_Mutation	SNP	pfam_Cbl-bd_transpt_euk	p.A138P	ENST00000257248.2	37	c.412	CCDS7977.1	11	.	.	.	.	.	.	.	.	.	.	C	22.4	4.290731	0.80914	.	.	ENSG00000134812	ENST00000257248;ENST00000541311	T;T	0.37584	1.19;1.19	5.63	5.63	0.86233	.	0.181621	0.38663	N	0.001607	T	0.55417	0.1919	M	0.65975	2.015	0.43693	D	0.996144	D	0.71674	0.998	D	0.65323	0.934	T	0.46555	-0.9183	10	0.31617	T	0.26	-15.2944	15.5476	0.76118	0.0:1.0:0.0:0.0	.	138	P27352	IF_HUMAN	P	138;113	ENSP00000257248:A138P;ENSP00000440427:A113P	ENSP00000257248:A138P	A	-	1	0	GIF	59366591	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	3.459000	0.53021	2.826000	0.97356	0.655000	0.94253	GCG	GIF	-	pfam_Cbl-bd_transpt_euk	ENSG00000134812		0.562	GIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIF	HGNC	protein_coding	OTTHUMT00000394497.1	-	0.00	48	0	C	NM_005142		59610015	-1	tier1	-	no_errors	ENST00000257248	ensembl	human	known	74_37	missense	23.68	29	9	SNP	1.000	G
GINS2	51659	genome.wustl.edu	37	16	85712254	85712254	+	Silent	SNP	C	C	T	rs541558749		TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr16:85712254C>T	ENST00000253462.3	-	4	424	c.324G>A	c.(322-324)ccG>ccA	p.P108P		NM_016095.2	NP_057179.1	Q9Y248	PSF2_HUMAN	GINS complex subunit 2 (Psf2 homolog)	108					DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)	nucleoplasm (GO:0005654)				endometrium(2)|large_intestine(2)|lung(2)	6						CGTCTGCCTTCGGGATGTTGT	0.517																																																	0													129.0	114.0	119.0					16																	85712254		2198	4300	6498	SO:0001819	synonymous_variant	0			BC003186	CCDS10953.1	16q24.1	2008-02-05			ENSG00000131153	ENSG00000131153			24575	protein-coding gene	gene with protein product		610609				11042152, 10810093	Standard	NM_016095		Approved	PSF2, Pfs2	uc002fja.3	Q9Y248	OTTHUMG00000137646	ENST00000253462.3:c.324G>A	16.37:g.85712254C>T			D3DUM5|Q6IAG9	Silent	SNP	pfam_GINS_complex,pirsf_GINS_Psf2_subgr	p.P108	ENST00000253462.3	37	c.324	CCDS10953.1	16																																																																																			GINS2	-	pfam_GINS_complex,pirsf_GINS_Psf2_subgr	ENSG00000131153		0.517	GINS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GINS2	HGNC	protein_coding	OTTHUMT00000269098.1	-	0.00	11	0	C	NM_016095		85712254	-1	tier1	-	no_errors	ENST00000253462	ensembl	human	known	74_37	silent	36.36	7	4	SNP	0.947	T
GPR4	2828	genome.wustl.edu	37	19	46094736	46094736	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr19:46094736C>T	ENST00000323040.4	-	2	1333	c.389G>A	c.(388-390)cGc>cAc	p.R130H	OPA3_ENST00000544371.1_Intron|GPR4_ENST00000591614.1_5'Flank	NM_005282.2	NP_005273.1	P46093	GPR4_HUMAN	G protein-coupled receptor 4	130				R -> C (in Ref. 8; AAH67535). {ECO:0000305}.	G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		GGTCTTGACGCGGCGCAGGCG	0.657																																					Esophageal Squamous(117;181 1612 1673 14956 42937)												0													26.0	33.0	31.0					19																	46094736		2191	4276	6467	SO:0001583	missense	0			BC067536	CCDS12669.1	19q13.3	2012-08-21				ENSG00000177464		"""GPCR / Class A : Orphans"""	4497	protein-coding gene	gene with protein product		600551				8595909	Standard	NM_005282		Approved		uc002pcm.3	P46093		ENST00000323040.4:c.389G>A	19.37:g.46094736C>T	ENSP00000319744:p.Arg130His		A8K3T3|B0M0K1|Q6NWM4	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPR4_orph,prints_GPCR_Rhodpsn,prints_Psych_rcpt	p.R130H	ENST00000323040.4	37	c.389	CCDS12669.1	19	.	.	.	.	.	.	.	.	.	.	C	22.6	4.304926	0.81247	.	.	ENSG00000177464	ENST00000323040	T	0.38240	1.15	5.33	5.33	0.75918	GPCR, rhodopsin-like superfamily (1);	0.085779	0.45867	D	0.000330	T	0.49304	0.1549	L	0.49513	1.565	0.41621	D	0.98896	D	0.69078	0.997	P	0.62184	0.899	T	0.44682	-0.9312	10	0.46703	T	0.11	.	12.2774	0.54744	0.0:0.829:0.171:0.0	.	130	P46093	GPR4_HUMAN	H	130	ENSP00000319744:R130H	ENSP00000319744:R130H	R	-	2	0	GPR4	50786576	0.024000	0.19004	0.999000	0.59377	0.993000	0.82548	1.177000	0.31969	2.501000	0.84356	0.455000	0.32223	CGC	GPR4	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPR4_orph	ENSG00000177464		0.657	GPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR4	HGNC	protein_coding	OTTHUMT00000459603.1	-	0.00	25	0	C	NM_005282		46094736	-1	tier1	-	no_errors	ENST00000323040	ensembl	human	known	74_37	missense	25.00	12	4	SNP	1.000	T
GPRIN3	285513	genome.wustl.edu	37	4	90168959	90168959	+	Missense_Mutation	SNP	C	C	T	rs145667508	byFrequency	TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr4:90168959C>T	ENST00000609438.1	-	2	2821	c.2303G>A	c.(2302-2304)cGt>cAt	p.R768H	GPRIN3_ENST00000333209.4_Missense_Mutation_p.R768H	NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	768										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		CGGGGCAGGACGGACGCAGCA	0.463																																																	0								C	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	99.0	106.0	104.0		2303	4.5	0.1	4	dbSNP_134	104	0,8600		0,0,4300	yes	missense	GPRIN3	NM_198281.2	29	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	possibly-damaging	768/777	90168959	2,13004	2203	4300	6503	SO:0001583	missense	0			AK124616	CCDS34030.1	4q22.1	2006-08-24				ENSG00000185477			27733	protein-coding gene	gene with protein product		611241				15488195	Standard	NM_198281		Approved	GRIN3, FLJ42625	uc003hsm.1	Q6ZVF9		ENST00000609438.1:c.2303G>A	4.37:g.90168959C>T	ENSP00000476603:p.Arg768His		Q8IVE4	Missense_Mutation	SNP	NULL	p.R768H	ENST00000609438.1	37	c.2303	CCDS34030.1	4	.	.	.	.	.	.	.	.	.	.	C	15.42	2.829501	0.50845	4.54E-4	0.0	ENSG00000185477	ENST00000333209	T	0.28069	1.63	5.45	4.53	0.55603	.	0.000000	0.34484	N	0.003923	T	0.37598	0.1009	L	0.34521	1.04	0.35040	D	0.759661	D	0.76494	0.999	P	0.55508	0.777	T	0.49082	-0.8976	10	0.87932	D	0	-14.787	14.8056	0.69952	0.0:0.9212:0.0:0.0788	.	768	Q6ZVF9	GRIN3_HUMAN	H	768	ENSP00000328672:R768H	ENSP00000328672:R768H	R	-	2	0	GPRIN3	90387982	1.000000	0.71417	0.077000	0.20336	0.076000	0.17211	5.549000	0.67261	2.836000	0.97738	0.655000	0.94253	CGT	GPRIN3	-	NULL	ENSG00000185477		0.463	GPRIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRIN3	HGNC	protein_coding	OTTHUMT00000363540.2	-	0.00	40	0	C	NM_198281		90168959	-1	tier1	rs145667508	no_errors	ENST00000333209	ensembl	human	known	74_37	missense	69.57	7	16	SNP	0.552	T
GRIA4	2893	genome.wustl.edu	37	11	105483048	105483048	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr11:105483048G>T	ENST00000530497.1	+	2	134	c.134G>T	c.(133-135)cGa>cTa	p.R45L	GRIA4_ENST00000393127.2_Missense_Mutation_p.R45L|GRIA4_ENST00000428631.2_Missense_Mutation_p.R45L|GRIA4_ENST00000525187.1_Missense_Mutation_p.R45L|GRIA4_ENST00000393125.2_Missense_Mutation_p.R45L|GRIA4_ENST00000527669.1_Missense_Mutation_p.R45L|GRIA4_ENST00000282499.5_Missense_Mutation_p.R45L			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	45					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)		ACTGCTTTTCGATTAGCAATT	0.408																																																	0													152.0	130.0	137.0					11																	105483048		2202	4299	6501	SO:0001583	missense	0			U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4574	protein-coding gene	gene with protein product		138246	"""glutamate receptor, ionotrophic, AMPA 4"""	GLUR4			Standard	NM_001077244		Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.134G>T	11.37:g.105483048G>T	ENSP00000435775:p.Arg45Leu		Q86XE8	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.R45L	ENST00000530497.1	37	c.134	CCDS8333.1	11	.	.	.	.	.	.	.	.	.	.	G	23.3	4.397618	0.83120	.	.	ENSG00000152578	ENST00000527177;ENST00000393125;ENST00000531986;ENST00000282499;ENST00000393127;ENST00000527669;ENST00000525921;ENST00000428631;ENST00000531011;ENST00000530497;ENST00000525187	D;D;D;D;D;D;D	0.82893	-1.66;-1.66;-1.66;-1.66;-1.66;-1.66;-1.66	5.91	5.91	0.95273	Extracellular ligand-binding receptor (1);	0.000000	0.53938	D	0.000054	D	0.88440	0.6437	L	0.39397	1.21	0.80722	D	1	B;B;B;B;D	0.63046	0.031;0.051;0.063;0.439;0.992	B;B;B;B;D	0.70487	0.022;0.017;0.03;0.201;0.969	D	0.88537	0.3107	10	0.72032	D	0.01	.	20.2985	0.98592	0.0:0.0:1.0:0.0	.	45;45;75;45;45	P48058;G3V164;Q59GL7;Q86XE8;E9PQN1	GRIA4_HUMAN;.;.;.;.	L	45	ENSP00000376833:R45L;ENSP00000282499:R45L;ENSP00000376835:R45L;ENSP00000415551:R45L;ENSP00000432443:R45L;ENSP00000435775:R45L;ENSP00000432180:R45L	ENSP00000282499:R45L	R	+	2	0	GRIA4	104988258	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.869000	0.99810	2.793000	0.96121	0.655000	0.94253	CGA	GRIA4	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I	ENSG00000152578		0.408	GRIA4-005	KNOWN	basic|CCDS	protein_coding	GRIA4	HGNC	protein_coding	OTTHUMT00000388593.1		0.00	79	0	G			105483048	+1			no_errors	ENST00000282499	ensembl	human	known	74_37	missense	5.66	50	3	SNP	1.000	T
GZF1	64412	genome.wustl.edu	37	20	23345474	23345474	+	Missense_Mutation	SNP	A	A	T			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr20:23345474A>T	ENST00000338121.5	+	2	531	c.454A>T	c.(454-456)Agc>Tgc	p.S152C	GZF1_ENST00000544236.1_Intron|GZF1_ENST00000377051.2_Missense_Mutation_p.S152C|GZF1_ENST00000542987.1_Intron			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	152					branching involved in ureteric bud morphogenesis (GO:0001658)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)|sequence-specific DNA binding (GO:0043565)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					GGTGGAGGTGAGCAGTGGCTC	0.498																																																	0													62.0	67.0	65.0					20																	23345474		2203	4300	6503	SO:0001583	missense	0			AK025447	CCDS13151.1	20p11.21	2013-01-09	2006-09-19	2006-09-19	ENSG00000125812	ENSG00000125812		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	15808	protein-coding gene	gene with protein product		613842	"""zinc finger protein 336"""	ZNF336		14522971, 16049025	Standard	NM_022482		Approved	dJ322G13.2, ZBTB23	uc002wsz.3	Q9H116	OTTHUMG00000032069	ENST00000338121.5:c.454A>T	20.37:g.23345474A>T	ENSP00000338290:p.Ser152Cys		A8K199|B2RBC3|B3KPL4|B4DF58|D3DW39|Q54A22|Q96N08|Q9BQK9|Q9H117|Q9H6W6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.S152C	ENST00000338121.5	37	c.454	CCDS13151.1	20	.	.	.	.	.	.	.	.	.	.	A	8.888	0.953241	0.18431	.	.	ENSG00000125812	ENST00000338121;ENST00000377051	T;T	0.10960	2.82;2.82	4.62	2.2	0.27929	.	0.265765	0.32533	N	0.005974	T	0.09247	0.0228	L	0.29908	0.895	0.09310	N	0.999999	D	0.55800	0.973	P	0.46975	0.533	T	0.14671	-1.0464	10	0.52906	T	0.07	.	6.4133	0.21702	0.5884:0.0:0.4116:0.0	.	152	Q9H116	GZF1_HUMAN	C	152	ENSP00000338290:S152C;ENSP00000366250:S152C	ENSP00000338290:S152C	S	+	1	0	GZF1	23293474	0.002000	0.14202	0.009000	0.14445	0.026000	0.11368	1.180000	0.32005	0.775000	0.33450	-0.417000	0.06048	AGC	GZF1	-	NULL	ENSG00000125812		0.498	GZF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	GZF1	HGNC	protein_coding	OTTHUMT00000078333.1	-	0.00	26	0	A	NM_022482		23345474	+1	tier1	-	no_errors	ENST00000338121	ensembl	human	known	74_37	missense	42.11	11	8	SNP	0.001	T
HELZ2	85441	genome.wustl.edu	37	20	62202818	62202818	+	Intron	SNP	T	T	C	rs71335511		TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr20:62202818T>C	ENST00000467148.1	-	2	348				HELZ2_ENST00000479540.1_5'UTR	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator						cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										GCTCCTGCCCTGCTCCAAGCT	0.677																																																	0																																										SO:0001627	intron_variant	0			AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"""peroxisomal proliferator activated receptor A interacting complex 285"", ""PPARG-DBD-interacting protein 1"""	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.279-597A>G	20.37:g.62202818T>C			Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	RNA	SNP	-	NULL	ENST00000467148.1	37	NULL	CCDS33508.1	20																																																																																			HELZ2	-	-	ENSG00000130589		0.677	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	HELZ2	HGNC	protein_coding	OTTHUMT00000354127.1	-	0.00	61	0	T	NM_001037335		62202818	-1	tier1	-	no_errors	ENST00000479540	ensembl	human	known	74_37	rna	12.24	43	6	SNP	0.998	C
HERC2P4	100289574	genome.wustl.edu	37	16	32198420	32198420	+	lincRNA	SNP	C	C	T			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr16:32198420C>T	ENST00000563407.1	+	0	0																											CCTCCCAGTTCTCAGGCCTGC	0.403																																																	0																																												0																															16.37:g.32198420C>T				RNA	SNP	-	NULL	ENST00000563407.1	37	NULL		16																																																																																			HERC2P4	-	-	ENSG00000230267		0.403	RP11-17M15.1-001	KNOWN	basic	lincRNA	HERC2P4	HGNC	lincRNA	OTTHUMT00000432542.1	-	0.00	77	0	C			32198420	-1	tier1	-	no_errors	ENST00000568097	ensembl	human	known	74_37	rna	41.51	62	44	SNP	0.904	T
HSPA1B	3304	genome.wustl.edu	37	6	31795842	31795842	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr6:31795842C>T	ENST00000375650.3	+	1	331	c.115C>T	c.(115-117)Ccc>Tcc	p.P39S	HSPA1B_ENST00000545241.1_Intron	NM_005346.4	NP_005337.2	P08107	HSP71_HUMAN	heat shock 70kDa protein 1B	39					ATP catabolic process (GO:0006200)|cellular heat acclimation (GO:0070370)|cellular response to heat (GO:0034605)|gene expression (GO:0010467)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of inclusion body assembly (GO:0090084)|negative regulation of protein ubiquitination (GO:0031397)|positive regulation of erythrocyte differentiation (GO:0045648)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)|RNA metabolic process (GO:0016070)	aggresome (GO:0016235)|blood microparticle (GO:0072562)|centriole (GO:0005814)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|inclusion body (GO:0016234)|mitochondrion (GO:0005739)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|double-stranded RNA binding (GO:0003725)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|poly(A) RNA binding (GO:0044822)|protein binding involved in protein folding (GO:0044183)|protein N-terminus binding (GO:0047485)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)|virus receptor activity (GO:0001618)			breast(1)|large_intestine(1)|prostate(1)	3						CCGCACCACCCCCAGCTACGT	0.652																																																	0													14.0	15.0	15.0					6																	31795842		2191	4251	6442	SO:0001583	missense	0				CCDS34415.1	6p21.3	2011-09-02	2002-08-29		ENSG00000204388	ENSG00000204388		"""Heat shock proteins / HSP70"""	5233	protein-coding gene	gene with protein product		603012	"""heat shock 70kD protein 1B"""			1700760	Standard	NM_005346		Approved	HSP70-2	uc003nxk.2	P08107	OTTHUMG00000031202	ENST00000375650.3:c.115C>T	6.37:g.31795842C>T	ENSP00000364801:p.Pro39Ser		B4E3B6|P19790|Q5JQI4|Q5SP17|Q9UQL9|Q9UQM0	Missense_Mutation	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.P39S	ENST00000375650.3	37	c.115	CCDS34415.1	6	.	.	.	.	.	.	.	.	.	.	C	21.1	4.092882	0.76756	.	.	ENSG00000204388	ENST00000542758;ENST00000375650;ENST00000545429;ENST00000418382	T	0.05319	3.46	4.5	4.5	0.54988	.	0.000000	0.40064	N	0.001186	T	0.12603	0.0306	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.00398	-1.1764	7	0.87932	D	0	.	15.0573	0.71925	0.0:1.0:0.0:0.0	.	.	.	.	S	106;39;39;39	ENSP00000364801:P39S	ENSP00000364801:P39S	P	+	1	0	HSPA1B	31903821	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	7.675000	0.84002	2.207000	0.71202	0.467000	0.42956	CCC	HSPA1B	-	pfam_Hsp_70_fam,prints_Hsp_70_fam	ENSG00000204388		0.652	HSPA1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPA1B	HGNC	protein_coding	OTTHUMT00000076402.2	-	0.00	34	0	C			31795842	+1	tier1	-	no_errors	ENST00000375650	ensembl	human	known	74_37	missense	62.50	9	15	SNP	1.000	T
HTATSF1	27336	genome.wustl.edu	37	X	135594151	135594151	+	Silent	SNP	T	T	C			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chrX:135594151T>C	ENST00000218364.4	+	9	2421	c.2247T>C	c.(2245-2247)gaT>gaC	p.D749D	HTATSF1_ENST00000535601.1_Silent_p.D749D	NM_014500.4	NP_055315.2	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	749	Asp/Glu-rich (acidic).|Mediates interaction with the P-TEFb complex.				regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					TCAGTAGCGATGATGATGACG	0.438																																																	0													167.0	161.0	163.0					X																	135594151		2203	4300	6503	SO:0001819	synonymous_variant	0			U76992	CCDS14657.1	Xq26.3	2013-02-12	2006-01-09		ENSG00000102241	ENSG00000102241		"""RNA binding motif (RRM) containing"""	5276	protein-coding gene	gene with protein product		300346	"""HIV TAT specific factor 1"""			8849451	Standard	NM_014500		Approved	TAT-SF1	uc004ezx.3	O43719	OTTHUMG00000022510	ENST00000218364.4:c.2247T>C	X.37:g.135594151T>C			D3DWG9|Q59G06|Q99730	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.D749	ENST00000218364.4	37	c.2247	CCDS14657.1	X																																																																																			HTATSF1	-	NULL	ENSG00000102241		0.438	HTATSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTATSF1	HGNC	protein_coding	OTTHUMT00000058497.1		0.00	64	0	T	NM_014500		135594151	+1			no_errors	ENST00000218364	ensembl	human	known	74_37	silent	6.67	56	4	SNP	0.686	C
IFI44L	10964	genome.wustl.edu	37	1	79107493	79107493	+	Nonstop_Mutation	SNP	G	G	T			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr1:79107493G>T	ENST00000370751.5	+	9	1537	c.1358G>T	c.(1357-1359)tGa>tTa	p.*453L	IFI44L_ENST00000342282.3_Nonstop_Mutation_p.*195L|IFI44L_ENST00000476521.1_3'UTR	NM_006820.2	NP_006811.2	Q53G44	IF44L_HUMAN	interferon-induced protein 44-like	0					defense response to virus (GO:0051607)|immune response (GO:0006955)	cytoplasm (GO:0005737)				endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	22						CCCTGCATTTGAGATAAGTTG	0.428																																																	0													288.0	264.0	272.0					1																	79107493		2203	4300	6503	SO:0001578	stop_lost	0			AB000115	CCDS687.2	1p22.3	2008-07-18	2004-11-12	2004-11-12	ENSG00000137959	ENSG00000137959			17817	protein-coding gene	gene with protein product		613975	"""chromosome 1 open reading frame 29"""	C1orf29			Standard	NM_006820		Approved	GS3686	uc010oro.2	Q53G44	OTTHUMG00000009724	ENST00000370751.5:c.1358G>T	1.37:g.79107493G>T	ENSP00000359787:p.*453Leuext*5		Q86TE1|Q96B64|Q99984	Nonstop_Mutation	SNP	superfamily_P-loop_NTPase	p.*453L	ENST00000370751.5	37	c.1358	CCDS687.2	1	.	.	.	.	.	.	.	.	.	.	G	4.274	0.050015	0.08243	.	.	ENSG00000137959	ENST00000370751;ENST00000342282	.	.	.	3.16	1.23	0.21249	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.5878	0.17283	0.2647:0.0:0.7353:0.0	.	.	.	.	L	453;195	.	.	X	+	2	2	IFI44L	78880081	0.003000	0.15002	0.000000	0.03702	0.006000	0.05464	0.381000	0.20619	0.350000	0.24002	0.557000	0.71058	TGA	IFI44L	-	NULL	ENSG00000137959		0.428	IFI44L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFI44L	HGNC	protein_coding	OTTHUMT00000026834.3	-	0.00	75	0	G	NM_006820		79107493	+1	tier1	-	no_errors	ENST00000370751	ensembl	human	known	74_37	nonstop	34.09	29	15	SNP	0.000	T
ITPR1	3708	genome.wustl.edu	37	3	4888305	4888305	+	3'UTR	DEL	C	C	-			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr3:4888305delC	ENST00000443694.2	+	0	8628				AC018816.3_ENST00000441894.1_Intron|ITPR1_ENST00000357086.4_3'UTR|ITPR1_ENST00000544951.1_3'UTR|ITPR1_ENST00000354582.6_3'UTR|ITPR1_ENST00000302640.8_3'UTR|ITPR1_ENST00000456211.2_3'UTR|ITPR1_ENST00000463980.1_3'UTR|AC018816.3_ENST00000449914.1_Intron|ITPR1_ENST00000423119.2_3'UTR			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1						activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	ATTTGTAGCTCCCGAGTGTCC	0.308																																																	0																																										SO:0001624	3_prime_UTR_variant	0			D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.*396C>-	3.37:g.4888305delC			E7EPX7|E9PDE9|Q14660|Q99897	RNA	DEL	-	NULL	ENST00000443694.2	37	NULL	CCDS54551.1	3																																																																																			ITPR1	-	-	ENSG00000150995		0.308	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	ITPR1	HGNC	protein_coding	OTTHUMT00000337982.3		0.00	47	0	C	NM_002222		4888305	+1	tier1		no_errors	ENST00000463980	ensembl	human	known	74_37	rna	70.97	9	22	DEL	1.000	-
KIF15	56992	genome.wustl.edu	37	3	44882647	44882647	+	Missense_Mutation	SNP	G	G	C			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr3:44882647G>C	ENST00000326047.4	+	29	3651	c.3502G>C	c.(3502-3504)Gcc>Ccc	p.A1168P	KIF15_ENST00000425755.1_Missense_Mutation_p.A803P	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	1168					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|plus-end kinesin complex (GO:0005873)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		AGATGGAAGAGCCTCTAAGAC	0.358																																																	0													74.0	78.0	76.0					3																	44882647		2203	4300	6503	SO:0001583	missense	0			AB035898	CCDS33744.1	3p21.31	2008-03-03	2005-03-15	2005-03-17	ENSG00000163808	ENSG00000163808		"""Kinesins"""	17273	protein-coding gene	gene with protein product			"""kinesin-like 7"""	KNSL7		10878014	Standard	NM_020242		Approved	HKLP2, NY-BR-62	uc003cnx.4	Q9NS87	OTTHUMG00000156307	ENST00000326047.4:c.3502G>C	3.37:g.44882647G>C	ENSP00000324020:p.Ala1168Pro		Q17RV9|Q69YL6|Q96JX7|Q9H280	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.A1168P	ENST00000326047.4	37	c.3502	CCDS33744.1	3	.	.	.	.	.	.	.	.	.	.	G	24.7	4.565252	0.86439	.	.	ENSG00000163808	ENST00000326047;ENST00000396031;ENST00000425755	T;T	0.69685	-0.42;1.76	6.17	6.17	0.99709	.	0.000000	0.51477	D	0.000094	T	0.62319	0.2418	N	0.24115	0.695	0.47905	D	0.99954	P	0.52316	0.952	P	0.47744	0.556	T	0.61163	-0.7118	10	0.39692	T	0.17	.	18.6524	0.91435	0.0:0.0:1.0:0.0	.	1168	Q9NS87	KIF15_HUMAN	P	1168;1165;803	ENSP00000324020:A1168P;ENSP00000389982:A803P	ENSP00000324020:A1168P	A	+	1	0	KIF15	44857651	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.342000	0.52159	2.941000	0.99782	0.655000	0.94253	GCC	KIF15	-	NULL	ENSG00000163808		0.358	KIF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF15	HGNC	protein_coding	OTTHUMT00000343831.2	-	0.00	30	0	G			44882647	+1	tier1	-	no_errors	ENST00000326047	ensembl	human	known	74_37	missense	59.26	11	16	SNP	1.000	C
KIF21A	55605	genome.wustl.edu	37	12	39735383	39735383	+	Silent	SNP	C	C	T			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr12:39735383C>T	ENST00000361418.5	-	14	1860	c.1845G>A	c.(1843-1845)gaG>gaA	p.E615E	KIF21A_ENST00000544797.2_Silent_p.E602E|KIF21A_ENST00000541463.2_Silent_p.E602E|KIF21A_ENST00000361961.3_Silent_p.E602E|KIF21A_ENST00000395670.3_Silent_p.E615E			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	615					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.E602D(1)|p.E602E(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				cctcctcctcctcttcttcat	0.398																																																	2	Substitution - Missense(1)|Substitution - coding silent(1)	lung(1)|kidney(1)											85.0	82.0	83.0					12																	39735383		2203	4299	6502	SO:0001819	synonymous_variant	0			AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"""Kinesins"", ""WD repeat domain containing"""	19349	protein-coding gene	gene with protein product		608283	"""fibrosis of the extraocular muscles, congenital, 1"""	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.1845G>A	12.37:g.39735383C>T			A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Silent	SNP	pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_P-loop_NTPase,superfamily_WD40_repeat_dom,superfamily_Prefoldin,superfamily_ARM-type_fold,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom	p.E615	ENST00000361418.5	37	c.1845	CCDS53776.1	12																																																																																			KIF21A	-	superfamily_ARM-type_fold	ENSG00000139116		0.398	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF21A	HGNC	protein_coding	OTTHUMT00000403581.1		0.00	36	0	C	NM_017641		39735383	-1			no_errors	ENST00000395670	ensembl	human	known	74_37	silent	5.66	50	3	SNP	0.969	T
KMT2B	9757	genome.wustl.edu	37	19	36221688	36221688	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr19:36221688G>T	ENST00000222270.7	+	26	5357	c.5357G>T	c.(5356-5358)tGg>tTg	p.W1786L	KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Missense_Mutation_p.W1786L	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	1786					chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										TATCGGCCATGGGGGCCGAGG	0.617																																																	0													41.0	48.0	46.0					19																	36221688		2052	4188	6240	SO:0001583	missense	0			AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.5357G>T	19.37:g.36221688G>T	ENSP00000222270:p.Trp1786Leu		O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Missense_Mutation	SNP	pirsf_MeTrfase_trithorax,pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC	p.W1786L	ENST00000222270.7	37	c.5357	CCDS46055.1	19	.	.	.	.	.	.	.	.	.	.	G	6.831	0.522550	0.13066	.	.	ENSG00000105663	ENST00000222270;ENST00000420124	D;D	0.82526	-1.62;-1.62	5.26	5.26	0.73747	.	0.174818	0.28098	N	0.016608	T	0.71651	0.3365	L	0.40543	1.245	0.31156	N	0.704929	B	0.29716	0.255	B	0.24394	0.053	T	0.65944	-0.6045	10	0.12766	T	0.61	.	9.7401	0.40413	0.0912:0.0:0.9088:0.0	.	1786	Q9UMN6	MLL4_HUMAN	L	1786	ENSP00000222270:W1786L;ENSP00000398837:W1786L	ENSP00000222270:W1786L	W	+	2	0	AD000671.1	40913528	1.000000	0.71417	0.997000	0.53966	0.199000	0.23934	2.267000	0.43329	2.735000	0.93741	0.655000	0.94253	TGG	KMT2B	-	pirsf_MeTrfase_trithorax	ENSG00000272333		0.617	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	KMT2B	Uniprot_gn	protein_coding			0.00	50	0	G	NM_014727		36221688	+1			no_errors	ENST00000222270	ensembl	human	known	74_37	missense	6.25	30	2	SNP	0.864	T
KRT8	3856	genome.wustl.edu	37	12	53298675	53298675	+	Missense_Mutation	SNP	A	A	C			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr12:53298675A>C	ENST00000552551.1	-	2	523	c.91T>G	c.(91-93)Tcc>Gcc	p.S31A	KRT8_ENST00000293308.6_Missense_Mutation_p.S31A|KRT8_ENST00000552150.1_Missense_Mutation_p.S59A|KRT8_ENST00000546897.1_Missense_Mutation_p.S31A			P05787	K2C8_HUMAN	keratin 8	31	Head.|Ser-rich.				cell differentiation involved in embryonic placenta development (GO:0060706)|extrinsic apoptotic signaling pathway (GO:0097191)|hepatocyte apoptotic process (GO:0097284)|response to hydrostatic pressure (GO:0051599)|response to other organism (GO:0051707)|sarcomere organization (GO:0045214)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|viral process (GO:0016032)	cell-cell junction (GO:0005911)|costamere (GO:0043034)|cytoplasm (GO:0005737)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)|sarcolemma (GO:0042383)|Z disc (GO:0030018)	scaffold protein binding (GO:0097110)|structural molecule activity (GO:0005198)	p.S31A(4)		endometrium(5)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(357;0.108)	Tenecteplase(DB00031)	CTGATGCGGGAACCGGGCCCA	0.662																																																	4	Substitution - Missense(4)	endometrium(2)|prostate(1)|liver(1)											12.0	14.0	13.0					12																	53298675		2120	4158	6278	SO:0001583	missense	0			BC000654	CCDS8841.1, CCDS58234.1	12q13.13	2013-01-16			ENSG00000170421	ENSG00000170421		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6446	protein-coding gene	gene with protein product		148060				2434381, 1705144, 16831889	Standard	NM_002273		Approved	CARD2, K8, CK8, CYK8, K2C8, KO	uc009zmk.1	P05787	OTTHUMG00000169881	ENST00000552551.1:c.91T>G	12.37:g.53298675A>C	ENSP00000447566:p.Ser31Ala		A8K4H3|B0AZN5|F8VXB4|Q14099|Q14716|Q14717|Q53GJ0|Q6DHW5|Q6GMY0|Q6P4C7|Q96J60	Missense_Mutation	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I	p.S31A	ENST00000552551.1	37	c.91	CCDS8841.1	12	.	.	.	.	.	.	.	.	.	.	-	0.012	-1.651707	0.00785	.	.	ENSG00000170421	ENST00000552551;ENST00000293308;ENST00000547916;ENST00000546897;ENST00000552150;ENST00000546826;ENST00000548998;ENST00000547413;ENST00000546542	T;T;T;T;T;T;T;T	0.80393	-1.37;-1.37;-1.37;-1.37;-1.37;-1.37;-1.37;-1.37	4.05	-8.11	0.01082	.	0.706613	0.13676	N	0.370518	T	0.40619	0.1124	N	0.01197	-0.965	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.43589	-0.9382	10	0.05351	T	0.99	.	6.5956	0.22672	0.4212:0.312:0.0:0.2668	.	59;31;31	F8VXB4;F8VU64;P05787	.;.;K2C8_HUMAN	A	31;31;31;31;59;31;71;31;109	ENSP00000447566:S31A;ENSP00000293308:S31A;ENSP00000447402:S31A;ENSP00000449404:S59A;ENSP00000447881:S31A;ENSP00000447040:S71A;ENSP00000448681:S31A;ENSP00000450228:S109A	ENSP00000293308:S31A	S	-	1	0	KRT8	51584942	0.005000	0.15991	0.000000	0.03702	0.065000	0.16274	-0.018000	0.12568	-3.264000	0.00201	-0.290000	0.09829	TCC	KRT8	-	NULL	ENSG00000170421		0.662	KRT8-001	KNOWN	alternative_5_UTR|overlapping_uORF|basic|appris_principal|CCDS	protein_coding	KRT8	HGNC	protein_coding	OTTHUMT00000406385.1		0.00	63	0	A	NM_002273		53298675	-1			no_errors	ENST00000293308	ensembl	human	known	74_37	missense	6.52	43	3	SNP	0.000	C
KRT8	3856	genome.wustl.edu	37	12	53298699	53298699	+	Missense_Mutation	SNP	G	G	A	rs201807576	byFrequency	TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr12:53298699G>A	ENST00000552551.1	-	2	499	c.67C>T	c.(67-69)Cgc>Tgc	p.R23C	KRT8_ENST00000293308.6_Missense_Mutation_p.R23C|KRT8_ENST00000552150.1_Missense_Mutation_p.R51C|KRT8_ENST00000546897.1_Missense_Mutation_p.R23C			P05787	K2C8_HUMAN	keratin 8	23	Head.|Ser-rich.				cell differentiation involved in embryonic placenta development (GO:0060706)|extrinsic apoptotic signaling pathway (GO:0097191)|hepatocyte apoptotic process (GO:0097284)|response to hydrostatic pressure (GO:0051599)|response to other organism (GO:0051707)|sarcomere organization (GO:0045214)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|viral process (GO:0016032)	cell-cell junction (GO:0005911)|costamere (GO:0043034)|cytoplasm (GO:0005737)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)|sarcolemma (GO:0042383)|Z disc (GO:0030018)	scaffold protein binding (GO:0097110)|structural molecule activity (GO:0005198)			endometrium(5)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(357;0.108)	Tenecteplase(DB00031)	GTGTAGGAGCGGCTGCTGAAG	0.667																																																	0													11.0	13.0	13.0					12																	53298699		1953	3904	5857	SO:0001583	missense	0			BC000654	CCDS8841.1, CCDS58234.1	12q13.13	2013-01-16			ENSG00000170421	ENSG00000170421		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6446	protein-coding gene	gene with protein product		148060				2434381, 1705144, 16831889	Standard	NM_002273		Approved	CARD2, K8, CK8, CYK8, K2C8, KO	uc009zmk.1	P05787	OTTHUMG00000169881	ENST00000552551.1:c.67C>T	12.37:g.53298699G>A	ENSP00000447566:p.Arg23Cys		A8K4H3|B0AZN5|F8VXB4|Q14099|Q14716|Q14717|Q53GJ0|Q6DHW5|Q6GMY0|Q6P4C7|Q96J60	Missense_Mutation	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I	p.R23C	ENST00000552551.1	37	c.67	CCDS8841.1	12	.	.	.	.	.	.	.	.	.	.	-	13.69	2.312705	0.40895	.	.	ENSG00000170421	ENST00000552551;ENST00000293308;ENST00000547916;ENST00000546897;ENST00000552150;ENST00000546826;ENST00000548998;ENST00000547413;ENST00000546542	D;D;D;D;D;D;D;T	0.84944	-1.92;-1.92;-1.92;-1.92;-1.92;-1.92;-1.92;-0.98	4.71	4.71	0.59529	.	0.431059	0.26883	N	0.022003	T	0.75824	0.3902	L	0.33293	1	0.41950	D	0.99065	B;B;B	0.12630	0.006;0.003;0.003	B;B;B	0.15484	0.013;0.005;0.002	T	0.69450	-0.5142	10	0.27082	T	0.32	.	9.653	0.39908	0.0974:0.0:0.9026:0.0	.	51;23;23	F8VXB4;F8VU64;P05787	.;.;K2C8_HUMAN	C	23;23;23;23;51;23;63;23;101	ENSP00000447566:R23C;ENSP00000293308:R23C;ENSP00000447402:R23C;ENSP00000449404:R51C;ENSP00000447881:R23C;ENSP00000447040:R63C;ENSP00000448681:R23C;ENSP00000450228:R101C	ENSP00000293308:R23C	R	-	1	0	KRT8	51584966	0.070000	0.21116	1.000000	0.80357	0.819000	0.46315	0.097000	0.15168	2.582000	0.87167	0.531000	0.56144	CGC	KRT8	-	NULL	ENSG00000170421		0.667	KRT8-001	KNOWN	alternative_5_UTR|overlapping_uORF|basic|appris_principal|CCDS	protein_coding	KRT8	HGNC	protein_coding	OTTHUMT00000406385.1		0.00	66	0	G	NM_002273		53298699	-1			no_errors	ENST00000293308	ensembl	human	known	74_37	missense	12.12	29	4	SNP	1.000	A
KTN1	3895	genome.wustl.edu	37	14	56142634	56142634	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr14:56142634A>G	ENST00000395314.3	+	41	3921	c.3853A>G	c.(3853-3855)Aag>Gag	p.K1285E	KTN1_ENST00000395309.3_Missense_Mutation_p.K1285E|KTN1_ENST00000395311.1_Missense_Mutation_p.K1234E|KTN1_ENST00000555573.1_Missense_Mutation_p.K262E|KTN1_ENST00000554507.1_Missense_Mutation_p.K523E|KTN1_ENST00000416613.1_Missense_Mutation_p.K1285E|KTN1_ENST00000438792.2_Missense_Mutation_p.K1228E|KTN1_ENST00000395308.1_Missense_Mutation_p.K1234E|KTN1_ENST00000413890.2_Missense_Mutation_p.K1234E	NM_001079521.1	NP_001072989.1	Q86UP2	KTN1_HUMAN	kinectin 1 (kinesin receptor)	1285					microtubule-based movement (GO:0007018)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						TGATTTGCATAAGGTAGGCAC	0.368			T	RET	papillary thryoid																																			Dom	yes		14	14q22.1	3895	kinectin 1 (kinesin receptor)		E	0													165.0	154.0	157.0					14																	56142634		2203	4300	6503	SO:0001583	missense	0				CCDS41957.1, CCDS41958.1, CCDS41959.1	14q22.1	2008-05-02			ENSG00000126777	ENSG00000126777			6467	protein-coding gene	gene with protein product		600381				9605849	Standard	NM_001079521		Approved	KIAA0004, CG1	uc001xcc.3	Q86UP2	OTTHUMG00000140312	ENST00000395314.3:c.3853A>G	14.37:g.56142634A>G	ENSP00000378725:p.Lys1285Glu		B4DZ88|Q13999|Q14707|Q15387|Q17RZ5|Q5GGW3|Q86W57	Missense_Mutation	SNP	NULL	p.K1285E	ENST00000395314.3	37	c.3853	CCDS41957.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.71|19.71	3.878540|3.878540	0.72294|0.72294	.|.	.|.	ENSG00000126777|ENSG00000126777	ENST00000554294|ENST00000413890;ENST00000395309;ENST00000438792;ENST00000395314;ENST00000395308;ENST00000395311;ENST00000416613;ENST00000554507;ENST00000555573	.|T;T;T;T;T;T;T;T;T	.|0.77750	.|1.54;1.48;1.54;1.48;1.54;1.54;1.48;-1.12;-1.12	5.47|5.47	5.47|5.47	0.80525|0.80525	.|.	.|0.000000	.|0.56097	.|D	.|0.000024	T|T	0.78375|0.78375	0.4273|0.4273	N|N	0.24115|0.24115	0.695|0.695	0.39816|0.39816	D|D	0.972777|0.972777	.|P;P;P;D;P;D	.|0.76494	.|0.692;0.692;0.692;0.999;0.652;0.998	.|P;P;P;D;B;D	.|0.87578	.|0.448;0.448;0.664;0.996;0.399;0.998	T|T	0.78460|0.78460	-0.2195|-0.2195	5|10	.|0.38643	.|T	.|0.18	-14.4645|-14.4645	9.5301|9.5301	0.39189|0.39189	0.9213:0.0:0.0787:0.0|0.9213:0.0:0.0787:0.0	.|.	.|262;1257;523;1228;1234;1285	.|B7Z6P3;B4DZ88;G3V4Y7;Q86UP2-2;Q17RZ5;Q86UP2	.|.;.;.;.;.;KTN1_HUMAN	M|E	55|1234;1285;1228;1285;1234;1234;1285;523;262	.|ENSP00000394992:K1234E;ENSP00000378720:K1285E;ENSP00000391964:K1228E;ENSP00000378725:K1285E;ENSP00000378719:K1234E;ENSP00000378722:K1234E;ENSP00000388807:K1285E;ENSP00000452073:K523E;ENSP00000451698:K262E	.|ENSP00000334083:K80E	I|K	+|+	3|1	3|0	KTN1|KTN1	55212387|55212387	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.894000|0.894000	0.52154|0.52154	6.624000|6.624000	0.74243|0.74243	2.207000|2.207000	0.71202|0.71202	0.477000|0.477000	0.44152|0.44152	ATA|AAG	KTN1	-	NULL	ENSG00000126777		0.368	KTN1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KTN1	HGNC	protein_coding	OTTHUMT00000276912.2	-	0.00	37	0	A			56142634	+1	tier1	-	no_errors	ENST00000395309	ensembl	human	known	74_37	missense	29.17	34	14	SNP	1.000	G
L3MBTL4	91133	genome.wustl.edu	37	18	6311610	6311610	+	Silent	SNP	G	G	A			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr18:6311610G>A	ENST00000284898.6	-	3	215	c.15C>T	c.(13-15)aaC>aaT	p.N5N	L3MBTL4_ENST00000317931.7_Silent_p.N5N|L3MBTL4_ENST00000400105.2_Silent_p.N5N|L3MBTL4_ENST00000400104.3_Silent_p.N5N	NM_173464.3	NP_775735.2	Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)	5					chromatin modification (GO:0016568)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				TCCTTTTCCTGTTGGGCTGTT	0.502																																					Esophageal Squamous(41;748 902 17366 28959 43175)												0													246.0	216.0	226.0					18																	6311610		2203	4300	6503	SO:0001819	synonymous_variant	0			BC039316	CCDS11839.2	18p11.31-p11.23	2013-01-10			ENSG00000154655	ENSG00000154655		"""Sterile alpha motif (SAM) domain containing"""	26677	protein-coding gene	gene with protein product						14702039	Standard	NM_173464		Approved	FLJ35936, HsT1031	uc010dkt.3	Q8NA19	OTTHUMG00000131573	ENST00000284898.6:c.15C>T	18.37:g.6311610G>A			A8MTL8|Q8IXS3	Silent	SNP	pfam_Mbt,pfam_SAM_type1,pfam_Znf_C2HC,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt,pfscan_SAM	p.N5	ENST00000284898.6	37	c.15	CCDS11839.2	18																																																																																			L3MBTL4	-	NULL	ENSG00000154655		0.502	L3MBTL4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	L3MBTL4	HGNC	protein_coding	OTTHUMT00000254448.2	-	0.00	59	0	G	NM_173464		6311610	-1	tier1	-	no_errors	ENST00000284898	ensembl	human	known	74_37	silent	31.15	42	19	SNP	0.952	A
LGALS8	3964	genome.wustl.edu	37	1	236704981	236704981	+	Silent	SNP	C	C	T	rs376845621		TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr1:236704981C>T	ENST00000366584.4	+	6	1059	c.493C>T	c.(493-495)Ctg>Ttg	p.L165L	LGALS8_ENST00000341872.6_Silent_p.L165L|LGALS8_ENST00000450372.2_Silent_p.L165L|LGALS8_ENST00000526634.1_Silent_p.L165L|LGALS8_ENST00000525042.1_Intron|LGALS8_ENST00000416919.2_Intron|LGALS8_ENST00000527974.1_Silent_p.L165L|LGALS8_ENST00000526589.1_Silent_p.L165L|RP11-385F5.4_ENST00000433131.1_RNA|LGALS8_ENST00000323938.6_Silent_p.L138L|LGALS8_ENST00000352231.2_Silent_p.L165L	NM_201544.2	NP_963838.1	O00214	LEG8_HUMAN	lectin, galactoside-binding, soluble, 8	165					plasma cell differentiation (GO:0002317)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(5)	20	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.0253)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			AGCATCTAGTCTGGAACTGAC	0.284																																																	0								G	,,,	1,4395	2.1+/-5.4	0,1,2197	28.0	30.0	29.0		493,493,493,493	-4.6	0.0	1		29	0,8592		0,0,4296	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	LGALS8	NM_006499.4,NM_201543.2,NM_201544.2,NM_201545.2	,,,	0,1,6493	TT,TC,CC		0.0,0.0227,0.0077	,,,	165/360,165/318,165/318,165/360	236704981	1,12987	2198	4296	6494	SO:0001819	synonymous_variant	0			X91790	CCDS1611.1, CCDS1612.1	1q43	2011-08-04	2008-07-25		ENSG00000116977	ENSG00000116977		"""Lectins, galactoside-binding"""	6569	protein-coding gene	gene with protein product	"""galectin 8"""	606099				7852431, 8692978	Standard	NM_201545		Approved	PCTA-1	uc001hxy.2	O00214	OTTHUMG00000039953	ENST00000366584.4:c.493C>T	1.37:g.236704981C>T			O15215|Q5T3P5|Q5T3Q4|Q8TEV1|Q96B92|Q9BXC8|Q9H584|Q9H585|Q9UEZ6|Q9UP32|Q9UP33|Q9UP34	Silent	SNP	pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD	p.L165	ENST00000366584.4	37	c.493	CCDS1612.1	1																																																																																			LGALS8	-	NULL	ENSG00000116977		0.284	LGALS8-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	LGALS8	HGNC	protein_coding	OTTHUMT00000096365.2	-	0.00	56	0	C	NM_006499		236704981	+1	tier1	-	no_errors	ENST00000352231	ensembl	human	known	74_37	silent	39.62	32	21	SNP	0.001	T
LINC00943	100507206	genome.wustl.edu	37	12	127229404	127229404	+	lincRNA	SNP	T	T	C			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr12:127229404T>C	ENST00000535544.1	+	0	1421				LINC00944_ENST00000540684.1_lincRNA					long intergenic non-protein coding RNA 943																		CCTTTCTACATTGCCTGAGAG	0.423																																																	0																																												0					12q24.32	2013-05-30			ENSG00000189238	ENSG00000189238		"""Long non-coding RNAs"""	48639	non-coding RNA	RNA, long non-coding							Standard	NR_038256		Approved				OTTHUMG00000168479		12.37:g.127229404T>C				RNA	SNP	-	NULL	ENST00000535544.1	37	NULL		12																																																																																			LINC00943	-	-	ENSG00000189238		0.423	LINC00943-002	KNOWN	basic	lincRNA	LINC00943	HGNC	lincRNA	OTTHUMT00000399867.1	-	0.00	109	0	T			127229404	+1	tier1	-	no_errors	ENST00000345111	ensembl	human	known	74_37	rna	20.97	98	26	SNP	0.000	C
LINC00957	255031	genome.wustl.edu	37	7	44080441	44080441	+	lincRNA	SNP	C	C	G			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr7:44080441C>G	ENST00000441052.1	+	0	1126				RASA4CP_ENST00000446874.1_RNA					long intergenic non-protein coding RNA 957																		AACAGTGGCTCTCACAGCAGC	0.667																																																	0																																												0			BC014556		7p13	2013-06-04			ENSG00000235314	ENSG00000235314		"""Long non-coding RNAs"""	22332	non-coding RNA	RNA, long non-coding							Standard	NR_015401		Approved				OTTHUMG00000155351		7.37:g.44080441C>G				RNA	SNP	-	NULL	ENST00000441052.1	37	NULL		7																																																																																			LINC00957	-	-	ENSG00000235314		0.667	LINC00957-001	KNOWN	basic	lincRNA	LINC00957	HGNC	lincRNA	OTTHUMT00000339589.1	-	0.00	28	0	C			44080441	+1	tier1	-	no_errors	ENST00000416824	ensembl	human	known	74_37	rna	56.47	37	48	SNP	0.003	G
LOC101928673	101928673	genome.wustl.edu	37	1	173430053	173430053	+	RNA	DEL	C	C	-			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr1:173430053delC	ENST00000367716.3	-	0	448																											tatccagccacccccgcccat	0.562																																																	0																																												0																															1.37:g.173430053delC				RNA	DEL	-	NULL	ENST00000367716.3	37	NULL		1																																																																																			RP11-296O14.3	-	-	ENSG00000203739		0.562	RP11-296O14.3-001	KNOWN	basic	antisense	LOC101928673	Clone_based_vega_gene	antisense	OTTHUMT00000084227.1		0.00	31	0	C			173430053	-1	tier1		no_errors	ENST00000367716	ensembl	human	known	74_37	rna	12.90	27	4	DEL	0.022	-
RP11-782C8.1	0	genome.wustl.edu	37	1	143230361	143230361	+	lincRNA	SNP	T	T	A	rs199651539		TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr1:143230361T>A	ENST00000438000.1	+	0	147				RP11-782C8.5_ENST00000427309.1_lincRNA																							AACACTCAAGTCTTCATCATC	0.343																																																	0																																												0																															1.37:g.143230361T>A				RNA	SNP	-	NULL	ENST00000438000.1	37	NULL		1																																																																																			RP11-782C8.5	-	-	ENSG00000225278		0.343	RP11-782C8.1-002	KNOWN	basic	lincRNA	LOC101930284	Clone_based_vega_gene	lincRNA	OTTHUMT00000037560.1	-	0.00	73	0	T			143230361	-1	tier1	rs199651539	no_errors	ENST00000422716	ensembl	human	known	74_37	rna	12.33	64	9	SNP	0.029	A
LRP6	4040	genome.wustl.edu	37	12	12312804	12312804	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr12:12312804G>A	ENST00000261349.4	-	11	2450	c.2374C>T	c.(2374-2376)Cgg>Tgg	p.R792W	LRP6_ENST00000543091.1_Missense_Mutation_p.R792W	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	792	Beta-propeller 3.				anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				CCGTTTGCCCGCCCCACATTT	0.403																																																	0													143.0	130.0	135.0					12																	12312804		2203	4300	6503	SO:0001583	missense	0			AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"""Low density lipoprotein receptors"""	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.2374C>T	12.37:g.12312804G>A	ENSP00000261349:p.Arg792Trp		Q17RZ2	Missense_Mutation	SNP	pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.R792W	ENST00000261349.4	37	c.2374	CCDS8647.1	12	.	.	.	.	.	.	.	.	.	.	G	26.9	4.777828	0.90195	.	.	ENSG00000070018	ENST00000261349;ENST00000543091	D;D	0.95554	-3.74;-3.74	5.67	5.67	0.87782	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.56097	D	0.000037	D	0.94886	0.8347	N	0.11818	0.18	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.99	D	0.93260	0.6642	10	0.19590	T	0.45	.	19.7619	0.96323	0.0:0.0:1.0:0.0	.	792;792	F5H7J9;O75581	.;LRP6_HUMAN	W	792	ENSP00000261349:R792W;ENSP00000442472:R792W	ENSP00000261349:R792W	R	-	1	2	LRP6	12204071	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	2.681000	0.91329	0.561000	0.74099	CGG	LRP6	-	pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt	ENSG00000070018		0.403	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP6	HGNC	protein_coding	OTTHUMT00000400137.1	-	0.00	61	0	G			12312804	-1	tier1	-	no_errors	ENST00000261349	ensembl	human	known	74_37	missense	13.19	79	12	SNP	1.000	A
LRRC57	255252	genome.wustl.edu	37	15	42837391	42837391	+	Missense_Mutation	SNP	G	G	C			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr15:42837391G>C	ENST00000323443.2	-	4	929	c.562C>G	c.(562-564)Ctt>Gtt	p.L188V	LRRC57_ENST00000563454.1_Missense_Mutation_p.L188V|LRRC57_ENST00000397130.3_Missense_Mutation_p.L188V			Q8N9N7	LRC57_HUMAN	leucine rich repeat containing 57	188						extracellular vesicular exosome (GO:0070062)				breast(1)|kidney(1)|lung(5)|prostate(1)	8		all_cancers(109;1.99e-12)|all_epithelial(112;5.11e-11)|Lung NSC(122;4.53e-07)|all_lung(180;1.64e-06)|Melanoma(134;0.0262)		GBM - Glioblastoma multiforme(94;6.87e-07)		CTGAGCTCAAGACAATTCTCT	0.413																																																	0													95.0	90.0	92.0					15																	42837391		2203	4299	6502	SO:0001583	missense	0			AK094891	CCDS10089.1	15q15.1	2006-02-13			ENSG00000180979	ENSG00000180979			26719	protein-coding gene	gene with protein product							Standard	NM_153260		Approved	FLJ36812	uc001zqc.3	Q8N9N7	OTTHUMG00000130679	ENST00000323443.2:c.562C>G	15.37:g.42837391G>C	ENSP00000326817:p.Leu188Val		Q7Z2Z6|Q8N1T6	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.L188V	ENST00000323443.2	37	c.562	CCDS10089.1	15	.	.	.	.	.	.	.	.	.	.	G	22.5	4.292826	0.80914	.	.	ENSG00000180979	ENST00000323443;ENST00000397130	T;T	0.65916	-0.18;-0.18	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.70561	0.3238	M	0.80982	2.52	0.80722	D	1	D	0.62365	0.991	P	0.50192	0.634	T	0.75280	-0.3373	10	0.59425	D	0.04	.	12.4369	0.55604	0.0769:0.0:0.9231:0.0	.	188	Q8N9N7	LRC57_HUMAN	V	188	ENSP00000326817:L188V;ENSP00000380319:L188V	ENSP00000326817:L188V	L	-	1	0	LRRC57	40624683	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	3.798000	0.55522	2.520000	0.84964	0.557000	0.71058	CTT	LRRC57	-	NULL	ENSG00000180979		0.413	LRRC57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC57	HGNC	protein_coding	OTTHUMT00000253174.1	-	0.00	40	0	G	NM_153260		42837391	-1	tier1	-	no_errors	ENST00000323443	ensembl	human	known	74_37	missense	30.00	28	12	SNP	1.000	C
LRTM1	57408	genome.wustl.edu	37	3	54959124	54959124	+	Silent	SNP	G	G	T			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr3:54959124G>T	ENST00000273286.5	-	2	288	c.126C>A	c.(124-126)gcC>gcA	p.A42A	LRTM1_ENST00000493075.1_5'UTR|CACNA2D3_ENST00000288197.5_Intron|CACNA2D3_ENST00000415676.2_Intron|CACNA2D3_ENST00000474759.1_Intron|CACNA2D3_ENST00000490478.1_Intron	NM_020678.2	NP_065729.1	Q9HBL6	LRTM1_HUMAN	leucine-rich repeats and transmembrane domains 1	42	LRRNT.					integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		AAGGGATTTCGGCCAGACCCT	0.493																																																	0													52.0	51.0	51.0					3																	54959124		2203	4300	6503	SO:0001819	synonymous_variant	0			AF225421	CCDS2876.1	3p14.3	2006-01-02			ENSG00000144771	ENSG00000144771			25023	protein-coding gene	gene with protein product						12477932	Standard	NM_020678		Approved	HT017	uc003dhl.3	Q9HBL6	OTTHUMG00000158578	ENST00000273286.5:c.126C>A	3.37:g.54959124G>T			Q8IUU2	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.A42	ENST00000273286.5	37	c.126	CCDS2876.1	3																																																																																			LRTM1	-	NULL	ENSG00000144771		0.493	LRTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRTM1	HGNC	protein_coding	OTTHUMT00000351399.1	-	0.00	38	0	G	NM_020678		54959124	-1	tier1	-	no_errors	ENST00000273286	ensembl	human	known	74_37	silent	11.54	23	3	SNP	0.906	T
LYG1	129530	genome.wustl.edu	37	2	99901179	99901179	+	Silent	SNP	T	T	G	rs112612184		TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr2:99901179T>G	ENST00000409448.1	-	7	754	c.438A>C	c.(436-438)ccA>ccC	p.P146P	LYG1_ENST00000308528.4_Silent_p.P146P			Q8N1E2	LYG1_HUMAN	lysozyme G-like 1	146					cell wall macromolecule catabolic process (GO:0016998)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)	lysozyme activity (GO:0003796)			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)	7						GGGTCCAGGTTGGAAACCTCC	0.458																																																	0													98.0	100.0	100.0					2																	99901179		2203	4300	6503	SO:0001819	synonymous_variant	0			BC029126	CCDS2043.1	2q11.2	2008-02-05			ENSG00000144214	ENSG00000144214			27014	protein-coding gene	gene with protein product						12574869	Standard	NM_174898		Approved	SALW1939	uc002szy.3	Q8N1E2	OTTHUMG00000130639	ENST00000409448.1:c.438A>C	2.37:g.99901179T>G			Q53RV9	Silent	SNP	superfamily_Lysozyme-like_dom,pirsf_Glyco_hydro_23,prints_Glyco_hydro_23	p.P146	ENST00000409448.1	37	c.438	CCDS2043.1	2																																																																																			LYG1	-	superfamily_Lysozyme-like_dom,pirsf_Glyco_hydro_23	ENSG00000144214		0.458	LYG1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LYG1	HGNC	protein_coding	OTTHUMT00000330315.1	-	0.00	32	0	T	NM_174898		99901179	-1	tier1	-	no_errors	ENST00000308528	ensembl	human	known	74_37	silent	34.69	32	17	SNP	1.000	G
LYPLA1	10434	genome.wustl.edu	37	8	54960378	54960378	+	3'UTR	SNP	G	G	C			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr8:54960378G>C	ENST00000316963.3	-	0	1133				RP11-30L15.6_ENST00000565668.2_lincRNA|LYPLA1_ENST00000343231.6_3'UTR	NM_001279360.1|NM_006330.2	NP_001266289.1|NP_006321.1	O75608	LYPA1_HUMAN	lysophospholipase I						fatty acid metabolic process (GO:0006631)|negative regulation of Golgi to plasma membrane protein transport (GO:0042997)|nitric oxide metabolic process (GO:0046209)|protein depalmitoylation (GO:0002084)|regulation of nitric-oxide synthase activity (GO:0050999)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	lysophospholipase activity (GO:0004622)|palmitoyl-(protein) hydrolase activity (GO:0008474)			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)	6		Lung NSC(129;0.109)|all_epithelial(80;0.11)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;8.48e-07)|Epithelial(17;9.29e-05)|all cancers(17;0.000689)			TGAGAAAAAAGAAGCTACCTG	0.294																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF081281	CCDS6157.1, CCDS64899.1, CCDS75738.1, CCDS75739.1	8q11.23-q12.1	2008-05-15			ENSG00000120992	ENSG00000120992	3.1.1.5		6737	protein-coding gene	gene with protein product		605599				10064899	Standard	NM_006330		Approved	LPL1	uc003xry.3	O75608	OTTHUMG00000164313	ENST00000316963.3:c.*247C>G	8.37:g.54960378G>C			O43202|Q9UQF9	RNA	SNP	-	NULL	ENST00000316963.3	37	NULL	CCDS6157.1	8																																																																																			LYPLA1	-	-	ENSG00000120992		0.294	LYPLA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYPLA1	HGNC	protein_coding	OTTHUMT00000378238.1	-	0.00	14	0	G			54960378	-1	tier1	-	no_errors	ENST00000519272	ensembl	human	known	74_37	rna	31.58	13	6	SNP	0.001	C
MACF1	23499	genome.wustl.edu	37	1	39905125	39905125	+	Missense_Mutation	SNP	C	C	A			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr1:39905125C>A	ENST00000372915.3	+	71	18184	c.18097C>A	c.(18097-18099)Cca>Aca	p.P6033T	MACF1_ENST00000289893.4_Missense_Mutation_p.P4577T|MACF1_ENST00000317713.7_Missense_Mutation_p.P4075T|MACF1_ENST00000539005.1_Missense_Mutation_p.P3945T|MACF1_ENST00000361689.2_Missense_Mutation_p.P4075T|MACF1_ENST00000567887.1_Missense_Mutation_p.P6171T|MACF1_ENST00000564288.1_Missense_Mutation_p.P6134T|MACF1_ENST00000545844.1_Missense_Mutation_p.P4075T			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6033					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CTTGGAAAGCCCAGGCATTGA	0.443																																																	0													84.0	78.0	80.0					1																	39905125		2203	4300	6503	SO:0001583	missense	0			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.18097C>A	1.37:g.39905125C>A	ENSP00000362006:p.Pro6033Thr		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom	p.P4075T	ENST00000372915.3	37	c.12223		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.123281|5.123281	0.94429|0.94429	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000372925|ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893	.|T;T;T;T;T;T	.|0.51071	.|1.35;1.35;1.35;1.35;1.35;0.72	5.77|5.77	5.77|5.77	0.91146|0.91146	.|.	0.000000|0.000000	0.64402|0.64402	D|D	0.000007|0.000007	T|T	0.72020|0.72020	0.3409|0.3409	M|M	0.78801|0.78801	2.425|2.425	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.999;0.996	T|T	0.73839|0.73839	-0.3856|-0.3856	6|10	.|0.72032	.|D	.|0.01	.|.	19.9826|19.9826	0.97334|0.97334	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|6033;4075	.|Q9UPN3;F8W8Q1	.|MACF1_HUMAN;.	H|T	3078|4075;6033;4075;4075;3945;4577	.|ENSP00000439537:P4075T;ENSP00000362006:P6033T;ENSP00000354573:P4075T;ENSP00000313438:P4075T;ENSP00000444364:P3945T;ENSP00000289893:P4577T	.|ENSP00000289893:P4577T	P|P	+|+	2|1	0|0	MACF1|MACF1	39677712|39677712	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.814000|7.814000	0.86154|0.86154	2.734000|2.734000	0.93682|0.93682	0.650000|0.650000	0.86243|0.86243	CCC|CCA	MACF1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000127603		0.443	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	MACF1	HGNC	protein_coding	OTTHUMT00000392096.1	-	0.00	45	0	C	NM_033044		39905125	+1	tier1	-	no_errors	ENST00000317713	ensembl	human	known	74_37	missense	11.11	32	4	SNP	1.000	A
MAML3	55534	genome.wustl.edu	37	4	140811081	140811081	+	Silent	SNP	C	C	T			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr4:140811081C>T	ENST00000509479.2	-	2	2365	c.1509G>A	c.(1507-1509)caG>caA	p.Q503Q	MAML3_ENST00000398940.1_Intron|MAML3_ENST00000327122.5_Silent_p.Q347Q	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgctgct	0.527																																																	0													23.0	31.0	29.0					4																	140811081		2165	4290	6455	SO:0001819	synonymous_variant	0			AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"""mastermind (drosophila)-like 3"""	608991	"""trinucleotide repeat containing 3"""	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.1509G>A	4.37:g.140811081C>T				Silent	SNP	pfam_Neuroggenic_mastermind-like_N	p.Q503	ENST00000509479.2	37	c.1509	CCDS54805.1	4																																																																																			MAML3	-	NULL	ENSG00000196782		0.527	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAML3	HGNC	protein_coding	OTTHUMT00000364934.2		0.00	41	0	C			140811081	-1			no_errors	ENST00000509479	ensembl	human	known	74_37	silent	7.50	37	3	SNP	1.000	T
MAP3K1	4214	genome.wustl.edu	37	5	56174810	56174810	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr5:56174810A>G	ENST00000399503.3	+	11	1969	c.1969A>G	c.(1969-1971)Aca>Gca	p.T657A		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	657					activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		TCCTTAGAAAACATTGAGAGC	0.378																																																	0													81.0	74.0	76.0					5																	56174810		1837	4087	5924	SO:0001583	missense	0			U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6848	protein-coding gene	gene with protein product		600982	"""mitogen-activated protein kinase kinase kinase 1"""	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.1969A>G	5.37:g.56174810A>G	ENSP00000382423:p.Thr657Ala			Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_dom	p.T657A	ENST00000399503.3	37	c.1969	CCDS43318.1	5	.	.	.	.	.	.	.	.	.	.	A	15.01	2.705281	0.48412	.	.	ENSG00000095015	ENST00000399503	T	0.61980	0.06	5.46	4.28	0.50868	.	0.054916	0.64402	D	0.000001	T	0.58481	0.2125	L	0.56769	1.78	0.58432	D	0.999997	P	0.34546	0.456	B	0.35931	0.214	T	0.57957	-0.7721	10	0.45353	T	0.12	.	12.0332	0.53410	0.8705:0.0:0.0:0.1295	.	657	Q13233	M3K1_HUMAN	A	657	ENSP00000382423:T657A	ENSP00000382423:T657A	T	+	1	0	MAP3K1	56210567	1.000000	0.71417	0.990000	0.47175	0.172000	0.22775	7.672000	0.83956	0.992000	0.38840	-0.336000	0.08194	ACA	MAP3K1	-	superfamily_ARM-type_fold	ENSG00000095015		0.378	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MAP3K1	HGNC	protein_coding	OTTHUMT00000132309.2	-	0.00	46	0	A	XM_042066		56174810	+1	tier1	-	no_errors	ENST00000399503	ensembl	human	novel	74_37	missense	21.43	33	9	SNP	1.000	G
MAU2	23383	genome.wustl.edu	37	19	19460171	19460171	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr19:19460171G>A	ENST00000392313.6	+	16	1653	c.1474G>A	c.(1474-1476)Gag>Aag	p.E492K	MAU2_ENST00000262815.8_Missense_Mutation_p.E492K	NM_015329.3	NP_056144.3	Q9Y6X3	SCC4_HUMAN	MAU2 sister chromatid cohesion factor	492					maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	protein N-terminus binding (GO:0047485)			NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	18						GTCCAATGCTGAGGACCTGAA	0.602																																																	0													186.0	179.0	182.0					19																	19460171		2203	4300	6503	SO:0001583	missense	0			AB020699	CCDS32969.2	19p13.11	2013-08-28	2013-08-28	2013-08-28	ENSG00000129933	ENSG00000129933			29140	protein-coding gene	gene with protein product	"""sister chromatid cohesion 4"""	614560	"""KIAA0892"", ""MAU2 chromatid cohesion factor homolog (C. elegans)"""	KIAA0892		10048485	Standard	NM_015329		Approved	MGC75361, mau-2, MAU2L, SCC4	uc002nmk.4	Q9Y6X3	OTTHUMG00000150188	ENST00000392313.6:c.1474G>A	19.37:g.19460171G>A	ENSP00000376127:p.Glu492Lys		Q66PT1|Q6P3S7|Q6ZTT2|Q9UFX8	Missense_Mutation	SNP	pfam_Cohesin_loading_factor,smart_TPR_repeat	p.E492K	ENST00000392313.6	37	c.1474	CCDS32969.2	19	.	.	.	.	.	.	.	.	.	.	G	28.0	4.883379	0.91740	.	.	ENSG00000129933	ENST00000392313;ENST00000262815	.	.	.	5.13	5.13	0.70059	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.78755	0.4333	M	0.78637	2.42	0.80722	D	1	D;P;D	0.89917	0.974;0.927;1.0	D;P;D	0.85130	0.953;0.801;0.997	T	0.76318	-0.3003	9	0.25751	T	0.34	.	17.1521	0.86781	0.0:0.0:1.0:0.0	.	68;97;492	Q9Y6X3-3;Q9Y6X3-2;Q9Y6X3	.;.;SCC4_HUMAN	K	492	.	ENSP00000262815:E492K	E	+	1	0	MAU2	19321171	1.000000	0.71417	0.916000	0.36221	0.861000	0.49209	9.277000	0.95755	2.406000	0.81754	0.561000	0.74099	GAG	MAU2	-	pfam_Cohesin_loading_factor,smart_TPR_repeat	ENSG00000129933		0.602	MAU2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAU2	HGNC	protein_coding	OTTHUMT00000316748.6	-	0.00	89	0	G	NM_015329		19460171	+1	tier1	-	no_errors	ENST00000262815	ensembl	human	known	74_37	missense	32.91	53	26	SNP	0.998	A
MEG3	55384	genome.wustl.edu	37	14	101301083	101301083	+	RNA	SNP	C	C	T	rs112191889		TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr14:101301083C>T	ENST00000554041.1	-	0	143																											atgTTGGTTTCGCCAGGTGAG	0.577																																																	0																																												0																															14.37:g.101301083C>T				RNA	SNP	-	NULL	ENST00000554041.1	37	NULL		14																																																																																			MEG3	-	-	ENSG00000214548		0.577	RP11-123M6.2-001	KNOWN	basic	antisense	MEG3	HGNC	antisense	OTTHUMT00000414687.1	-	0.00	31	0	C			101301083	+1	tier1	rs112191889	no_errors	ENST00000398461	ensembl	human	known	74_37	rna	28.57	45	18	SNP	0.014	T
MFSD5	84975	genome.wustl.edu	37	12	53646926	53646926	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr12:53646926G>T	ENST00000329548.4	+	2	498	c.307G>T	c.(307-309)Ggt>Tgt	p.G103C	MFSD5_ENST00000534842.1_Missense_Mutation_p.G210C	NM_032889.4	NP_116278.3	Q6N075	MFSD5_HUMAN	major facilitator superfamily domain containing 5	103					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(3)|urinary_tract(1)	16						GGATTGGCTGGGTCGCAAGAA	0.502																																																	0													254.0	260.0	258.0					12																	53646926		2203	4300	6503	SO:0001583	missense	0			AK097576	CCDS8851.1, CCDS53796.1	12q13.13	2012-03-09			ENSG00000182544	ENSG00000182544			28156	protein-coding gene	gene with protein product							Standard	NM_032889		Approved	MGC11308	uc001sch.2	Q6N075	OTTHUMG00000170028	ENST00000329548.4:c.307G>T	12.37:g.53646926G>T	ENSP00000332624:p.Gly103Cys		G3V1N7|Q6NW04|Q8N7W8|Q8NCK0|Q96IA5	Missense_Mutation	SNP	pfam_DUF791,pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.G210C	ENST00000329548.4	37	c.628	CCDS8851.1	12	.	.	.	.	.	.	.	.	.	.	G	19.16	3.773542	0.69992	.	.	ENSG00000182544	ENST00000551660;ENST00000534842;ENST00000328704;ENST00000329548	D;D	0.90324	-2.65;-2.65	4.3	4.3	0.51218	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.95818	0.8639	M	0.88640	2.97	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96686	0.9507	10	0.87932	D	0	-5.6038	15.6853	0.77405	0.0:0.0:1.0:0.0	.	103;210	Q6N075;G3V1N7	MFSD5_HUMAN;.	C	210;210;210;103	ENSP00000442688:G210C;ENSP00000332624:G103C	ENSP00000331231:G210C	G	+	1	0	MFSD5	51933193	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	9.367000	0.97148	2.239000	0.73571	0.561000	0.74099	GGT	MFSD5	-	pfam_DUF791,pfam_MFS,superfamily_MFS_dom_general_subst_transpt	ENSG00000182544		0.502	MFSD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFSD5	HGNC	protein_coding	OTTHUMT00000406896.1	-	0.00	55	0	G	NM_032889		53646926	+1	tier1	-	no_errors	ENST00000534842	ensembl	human	known	74_37	missense	5.26	72	4	SNP	1.000	T
MIOS	54468	genome.wustl.edu	37	7	7634722	7634722	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr7:7634722C>T	ENST00000340080.4	+	10	2576	c.2155C>T	c.(2155-2157)Cac>Tac	p.H719Y	MIOS_ENST00000405785.1_Missense_Mutation_p.H719Y	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog (Drosophila)	719						lysosomal membrane (GO:0005765)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ATTTGATATTCACAGGAGTAA	0.338																																																	0													113.0	107.0	109.0					7																	7634722		1829	4095	5924	SO:0001583	missense	0				CCDS43554.1	7p21.3	2011-09-12			ENSG00000164654	ENSG00000164654			21905	protein-coding gene	gene with protein product	"""WD repeat-containing protein mio"""	615359				14973288	Standard	NM_019005		Approved	FLJ20323	uc003srf.3	Q9NXC5	OTTHUMG00000152440	ENST00000340080.4:c.2155C>T	7.37:g.7634722C>T	ENSP00000339881:p.His719Tyr		B2RTV6|O75216|Q7L551|Q9H092	Missense_Mutation	SNP	smart_WD40_repeat	p.H719Y	ENST00000340080.4	37	c.2155	CCDS43554.1	7	.	.	.	.	.	.	.	.	.	.	C	11.00	1.509779	0.27036	.	.	ENSG00000164654	ENST00000340080;ENST00000405785	T;T	0.41065	1.01;1.01	5.58	5.58	0.84498	.	0.040834	0.85682	D	0.000000	T	0.32406	0.0828	N	0.20766	0.605	0.80722	D	1	B;B	0.22003	0.063;0.063	B;B	0.17979	0.02;0.02	T	0.05053	-1.0909	10	0.27082	T	0.32	-13.772	19.9573	0.97224	0.0:1.0:0.0:0.0	.	719;719	B4DGE7;Q9NXC5	.;MIO_HUMAN	Y	719	ENSP00000339881:H719Y;ENSP00000384088:H719Y	ENSP00000339881:H719Y	H	+	1	0	MIOS	7601247	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.439000	0.80444	2.794000	0.96219	0.655000	0.94253	CAC	MIOS	-	NULL	ENSG00000164654		0.338	MIOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIOS	HGNC	protein_coding	OTTHUMT00000326218.1	-	0.00	67	0	C	NM_019005		7634722	+1	tier1	-	no_errors	ENST00000340080	ensembl	human	known	74_37	missense	14.29	78	13	SNP	1.000	T
WDR44	54521	genome.wustl.edu	37	X	117520366	117520367	+	Intron	DEL	AT	AT	-			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	AT	AT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chrX:117520366_117520367delAT	ENST00000254029.3	+	3	506				WDR44_ENST00000371825.3_Intron|WDR44_ENST00000371822.5_Intron|MIR1277_ENST00000408536.1_RNA|WDR44_ENST00000493448.1_Intron	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN	WD repeat domain 44							endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						AACCTCCCAAatatatatatat	0.252																																																	0									,,	117,2471		5,59,48,990,432					,,	4.0	1.0			42	251,5022		5,96,145,1764,1398	no	intron,intron,intron	WDR44	NM_019045.4,NM_001184966.1,NM_001184965.1	,,	10,155,193,2754,1830	A1A1,A1R,A1,RR,R		4.7601,4.5209,4.6813	,,	,,		368,7493				SO:0001627	intron_variant	0			AK001978	CCDS14572.1, CCDS55482.1, CCDS55483.1	Xq24	2013-01-09			ENSG00000131725	ENSG00000131725		"""WD repeat domain containing"""	30512	protein-coding gene	gene with protein product						12477932	Standard	NM_019045		Approved	DKFZp686L20145, RPH11, RAB11BP	uc004eqn.3	Q5JSH3	OTTHUMG00000022254	ENST00000254029.3:c.112-936AT>-	X.37:g.117520376_117520377delAT			B4DSE9|F8W913|Q0JS52|Q0JTF3|Q5JSH2|Q6ZSC1|Q7Z365|Q7Z3P6|Q8NAU8|Q8NHU5|Q9NUV4	RNA	DEL	-	NULL	ENST00000254029.3	37	NULL	CCDS14572.1	X																																																																																			MIR1277	-	-	ENSG00000221463		0.252	WDR44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIR1277	HGNC	protein_coding	OTTHUMT00000058001.1		0.00	52	0	AT	NM_019045		117520367	+1	tier1		no_errors	ENST00000408536	ensembl	human	known	74_37	rna	13.64	38	6	DEL	0.986:0.997	-
NFYC	4802	genome.wustl.edu	37	1	41220064	41220064	+	Intron	SNP	G	G	T			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr1:41220064G>T	ENST00000308733.5	+	4	393				NFYC_ENST00000425457.2_Intron|MIR30E_ENST00000362104.1_RNA|NFYC_ENST00000440226.3_Intron|MIR30C1_ENST00000385227.1_RNA|NFYC_ENST00000372652.1_Intron|NFYC_ENST00000456393.2_Intron|NFYC_ENST00000372651.1_Intron|NFYC_ENST00000447388.3_Intron|NFYC_ENST00000372654.1_Intron|NFYC_ENST00000372653.1_Intron|NFYC_ENST00000427410.2_Intron			Q13952	NFYC_HUMAN	nuclear transcription factor Y, gamma						cellular lipid metabolic process (GO:0044255)|positive regulation of transcription, DNA-templated (GO:0045893)|protein folding (GO:0006457)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	CCAAT-binding factor complex (GO:0016602)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)|skin(2)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.72e-17)			TTGACTGGAAGCTGTAAGGTG	0.532																																																	0													108.0	100.0	102.0					1																	41220064		1568	3582	5150	SO:0001627	intron_variant	0			U78774	CCDS455.1, CCDS44120.1, CCDS44121.1, CCDS44122.1, CCDS44123.1	1p32	2008-11-11			ENSG00000066136	ENSG00000066136			7806	protein-coding gene	gene with protein product		605344				8921405, 9249075	Standard	NM_014223		Approved	CBF-C, NF-YC	uc009vwd.3	Q13952	OTTHUMG00000007729	ENST00000308733.5:c.387+1146G>T	1.37:g.41220064G>T			B4DUS6|B4DW63|D3DPV9|F8VWM3|Q59GY4|Q5T6K8|Q5T6K9|Q5T6L1|Q5TZR6|Q92869|Q9HBX1|Q9NXB5|Q9UM67|Q9UML0|Q9UMT7	RNA	SNP	-	NULL	ENST00000308733.5	37	NULL		1																																																																																			MIR30E	-	-	ENSG00000198974		0.532	NFYC-007	KNOWN	basic	protein_coding	MIR30E	HGNC	protein_coding	OTTHUMT00000020802.1	-	0.00	55	0	G	NM_014223		41220064	+1	tier1	-	no_errors	ENST00000362104	ensembl	human	known	74_37	rna	51.02	24	25	SNP	1.000	T
MIR380	494329	genome.wustl.edu	37	14	101489664	101489664	+	RNA	SNP	G	G	T			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr14:101489664G>T	ENST00000362112.2	-	0	111				MIR411_ENST00000362239.2_RNA|MIR379_ENST00000362218.3_RNA|MIR1197_ENST00000408818.1_RNA|MIR758_ENST00000390227.1_RNA|MIR299_ENST00000385016.2_RNA|MIR323A_ENST00000362199.1_RNA	NR_029872.1				microRNA 380																		TCTCTGTGTGGTACTTGGAGA	0.527																																																	0													121.0	108.0	112.0					14																	101489664		1568	3582	5150			0					14q32.31	2013-02-12		2008-12-18		ENSG00000198982		"""ncRNAs / Micro RNAs"""	31873	non-coding RNA	RNA, micro		613654		MIRN380			Standard	NR_029872		Approved	hsa-mir-380	uc010awb.1				14.37:g.101489664G>T				RNA	SNP	-	NULL	ENST00000362112.2	37	NULL		14																																																																																			MIR411	-	-	ENSG00000199109		0.527	MIR380-201	KNOWN	basic	miRNA	MIR411	HGNC	miRNA		-	0.00	99	0	G	NR_029872		101489664	+1	tier1	-	no_errors	ENST00000362239	ensembl	human	known	74_37	rna	34.59	87	46	SNP	1.000	T
MLLT3	4300	genome.wustl.edu	37	9	20622295	20622295	+	5'UTR	DEL	C	C	-	rs536649796	byFrequency	TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr9:20622295delC	ENST00000380338.4	-	0	247				MLLT3_ENST00000429426.2_5'Flank|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3						anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)				central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		TTGTGTGGTACCCCCCCCTCC	0.587			T	MLL	ALL								|||unknown(LONG_INSERTION)	10	0.00199681	0.0015	0.0058	5008	,	,		12767	0.002		0.0	False		,,,				2504	0.002							Dom	yes		9	9p22	4300	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""		L	0										35,62,4165		0,0,35,0,62,2034	31.0	37.0	35.0			3.8	1.0	9	dbSNP_126	37	42,107,8105		0,0,42,1,105,3979	no	utr-5	MLLT3	NM_004529.2		0,0,77,1,167,6013	A1A1,A1A2,A1R,A2A2,A2R,RR		1.8052,2.2759,1.9655			20622295	77,169,12270	2203	4299	6502	SO:0001623	5_prime_UTR_variant	0			L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.-40G>-	9.37:g.20622295delC			B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	RNA	DEL	-	NULL	ENST00000380338.4	37	NULL	CCDS6494.1	9																																																																																			MLLT3	-	-	ENSG00000171843		0.587	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MLLT3	HGNC	protein_coding	OTTHUMT00000051872.1		0.00	72	0	C	NM_004529		20622295	-1	tier1		no_errors	ENST00000475957	ensembl	human	known	74_37	rna	9.21	69	7	DEL	1.000	-
MOG	4340	genome.wustl.edu	37	6	29627252	29627252	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr6:29627252A>G	ENST00000376917.3	+	2	474	c.245A>G	c.(244-246)aAt>aGt	p.N82S	MOG_ENST00000490427.1_Intron|MOG_ENST00000376898.3_Missense_Mutation_p.N82S|MOG_ENST00000376888.2_Intron|MOG_ENST00000533330.2_Missense_Mutation_p.N82S|MOG_ENST00000431798.2_Missense_Mutation_p.N82S|MOG_ENST00000483013.1_Intron|MOG_ENST00000469603.1_3'UTR|MOG_ENST00000376902.3_Missense_Mutation_p.N82S|MOG_ENST00000376894.4_Missense_Mutation_p.N82S|MOG_ENST00000396704.3_Missense_Mutation_p.N82S|MOG_ENST00000416766.2_Missense_Mutation_p.N82S|MOG_ENST00000396701.2_Missense_Mutation_p.N82S|MOG_ENST00000494692.1_Missense_Mutation_p.N82S|MOG_ENST00000376891.4_Missense_Mutation_p.N82S	NM_002433.4|NM_206809.3	NP_002424.3|NP_996532.2	Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein	82	Ig-like V-type.				cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|positive regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034126)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						CTCTACAGAAATGGCAAGGAC	0.557																																																	0													116.0	116.0	116.0					6																	29627252		1511	2709	4220	SO:0001583	missense	0				CCDS4667.1, CCDS34366.1, CCDS34367.1, CCDS34368.1, CCDS34369.1, CCDS34370.1, CCDS47394.1, CCDS47395.1, CCDS47395.2, CCDS54977.1	6p22.1	2014-01-16			ENSG00000204655	ENSG00000204655		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	7197	protein-coding gene	gene with protein product		159465					Standard	NM_002433		Approved	BTN6, BTNL11	uc003nne.3	Q16653	OTTHUMG00000031099	ENST00000376917.3:c.245A>G	6.37:g.29627252A>G	ENSP00000366115:p.Asn82Ser		A6NDR4|A6NNJ9|A8MY31|B0UZR9|E9PGF0|F8W9D5|O00713|O00714|O00715|Q13054|Q13055|Q14855|Q29ZN8|Q56UY0|Q5JNX7|Q5JNY1|Q5JNY2|Q5JNY4|Q5SSB5|Q5SSB6|Q5STL9|Q5STM0|Q5STM1|Q5STM2|Q5STM5|Q5SUK5|Q5SUK7|Q5SUK8|Q5SUK9|Q5SUL0|Q5SUL1|Q8IYG5|Q92891|Q92892|Q92893|Q92894|Q92895|Q93053|Q96KU9|Q96KV0|Q96KV1|Q99605	Missense_Mutation	SNP	pirsf_Myelin-oligodendrocyte_glycop,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.N82S	ENST00000376917.3	37	c.245	CCDS34370.1	6	.	.	.	.	.	.	.	.	.	.	A	13.05	2.120151	0.37436	.	.	ENSG00000204655	ENST00000376917;ENST00000376902;ENST00000533330;ENST00000376894;ENST00000416766;ENST00000376891;ENST00000376898;ENST00000431798;ENST00000396701;ENST00000494692;ENST00000396704	T;T;T;T;T;T;T;T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11;-0.11;-0.11;-0.11;-0.11;-0.11;-0.11;-0.11	5.72	4.57	0.56435	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin V-set, subgroup (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000005	T	0.37812	0.1017	L	0.58669	1.825	0.29866	N	0.827203	B;P;B;B;B;B;P;B;B;P;B	0.42123	0.239;0.771;0.271;0.271;0.2;0.271;0.515;0.364;0.087;0.616;0.061	B;B;B;B;B;B;B;B;B;B;B	0.34385	0.167;0.181;0.078;0.078;0.136;0.071;0.098;0.122;0.053;0.131;0.154	T	0.46952	-0.9154	10	0.66056	D	0.02	.	9.2246	0.37398	0.9153:0.0:0.0847:0.0	.	12;82;82;82;82;82;82;82;82;82;82	B7Z2X8;C9JTE0;F8W9D5;Q16653-2;Q16653-3;Q16653-6;Q16653-7;Q16653;Q16653-5;Q16653-10;Q5SUK5	.;.;.;.;.;.;.;MOG_HUMAN;.;.;.	S	82	ENSP00000366115:N82S;ENSP00000366100:N82S;ENSP00000431709:N82S;ENSP00000366091:N82S;ENSP00000409394:N82S;ENSP00000366088:N82S;ENSP00000366095:N82S;ENSP00000410866:N82S;ENSP00000379929:N82S;ENSP00000417405:N82S;ENSP00000379932:N82S	ENSP00000366088:N82S	N	+	2	0	MOG	29735231	0.014000	0.17966	0.991000	0.47740	0.989000	0.77384	1.649000	0.37281	2.183000	0.69458	0.533000	0.62120	AAT	MOG	-	pirsf_Myelin-oligodendrocyte_glycop,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	ENSG00000204655		0.557	MOG-001	KNOWN	basic|CCDS	protein_coding	MOG	HGNC	protein_coding	OTTHUMT00000076160.3		0.00	68	0	A	NM_002433		29627252	+1			no_errors	ENST00000376898	ensembl	human	known	74_37	missense	6.25	44	3	SNP	0.991	G
MPO	4353	genome.wustl.edu	37	17	56350190	56350190	+	Silent	SNP	G	G	T			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr17:56350190G>T	ENST00000225275.3	-	10	1887	c.1711C>A	c.(1711-1713)Cga>Aga	p.R571R	MPO_ENST00000340482.3_Silent_p.R603R|MPO_ENST00000578493.1_5'Flank	NM_000250.1	NP_000241.1	P05164	PERM_HUMAN	myeloperoxidase	571					aging (GO:0007568)|defense response (GO:0006952)|defense response to fungus (GO:0050832)|hydrogen peroxide catabolic process (GO:0042744)|hypochlorous acid biosynthetic process (GO:0002149)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of apoptotic process (GO:0043066)|negative regulation of growth of symbiont in host (GO:0044130)|oxidation-reduction process (GO:0055114)|removal of superoxide radicals (GO:0019430)|respiratory burst involved in defense response (GO:0002679)|response to food (GO:0032094)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|response to yeast (GO:0001878)	azurophil granule (GO:0042582)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|secretory granule (GO:0030141)	chromatin binding (GO:0003682)|heme binding (GO:0020037)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Aminosalicylic Acid(DB00233)|Bivalirudin(DB00006)|Calcipotriol(DB02300)|Carboplatin(DB00958)|Cefaclor(DB00833)|Cefdinir(DB00535)|Cisplatin(DB00515)|Cysteamine(DB00847)|Dapsone(DB00250)|Enoxaparin(DB01225)|Human Serum Albumin(DB00062)|L-Carnitine(DB00583)|Melatonin(DB01065)|Mesalazine(DB00244)|Nabumetone(DB00461)|Octreotide(DB00104)|Oxaliplatin(DB00526)|Propylthiouracil(DB00550)|Ticlopidine(DB00208)|Tolmetin(DB00500)	TCAAACAATCGCTCCCGGATC	0.617																																																	0													133.0	130.0	131.0					17																	56350190		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS11604.1	17q21.3-q23	2014-09-17				ENSG00000005381	1.11.1.7		7218	protein-coding gene	gene with protein product		606989					Standard	NM_000250		Approved		uc002ivu.1	P05164		ENST00000225275.3:c.1711C>A	17.37:g.56350190G>T			A1L4B8|Q14862|Q4PJH5|Q9UCL7	Silent	SNP	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr	p.R603	ENST00000225275.3	37	c.1807	CCDS11604.1	17																																																																																			MPO	-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal	ENSG00000005381		0.617	MPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPO	HGNC	protein_coding	OTTHUMT00000443971.1	-	0.00	63	0	G			56350190	-1	tier1	-	no_errors	ENST00000340482	ensembl	human	known	74_37	silent	5.33	71	4	SNP	0.231	T
MROH2A	339766	genome.wustl.edu	37	2	234741841	234741841	+	Missense_Mutation	SNP	C	C	T	rs368351854		TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr2:234741841C>T	ENST00000389758.3	+	42	5127	c.4961C>T	c.(4960-4962)aCg>aTg	p.T1654M				A6NES4	MRO2A_HUMAN	maestro heat-like repeat family member 2A	1686																	GCCCTGGAGACGCTCACAGTC	0.557											OREG0015298	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																										SO:0001583	missense	0				CCDS74674.1	2q37.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000185038	ENSG00000185038		"""maestro heat-like repeat containing"""	27936	protein-coding gene	gene with protein product			"""HEAT repeat containing 7B1"""	HEATR7B1		12477932	Standard	NM_001287395		Approved			A6NES4	OTTHUMG00000059037	ENST00000389758.3:c.4961C>T	2.37:g.234741841C>T	ENSP00000374408:p.Thr1654Met	2375		Missense_Mutation	SNP	superfamily_ARM-type_fold	p.T1654M	ENST00000389758.3	37	c.4961		2	.	.	.	.	.	.	.	.	.	.	c	17.65	3.441784	0.63067	.	.	ENSG00000185038	ENST00000389758	T	0.66280	-0.2	5.75	5.75	0.90469	.	0.266242	0.26065	N	0.026553	T	0.71821	0.3385	M	0.62723	1.935	0.32067	N	0.594979	.	.	.	.	.	.	T	0.78398	-0.2219	8	0.72032	D	0.01	.	15.4416	0.75187	0.0:1.0:0.0:0.0	.	.	.	.	M	1656	ENSP00000374408:T1656M	ENSP00000374408:T1656M	T	+	2	0	HEATR7B1	234406580	0.953000	0.32496	0.955000	0.39395	0.309000	0.27889	2.163000	0.42377	2.718000	0.92993	0.651000	0.88453	ACG	MROH2A	-	superfamily_ARM-type_fold	ENSG00000185038		0.557	MROH2A-001	NOVEL	basic|appris_principal|exp_conf	protein_coding	MROH2A	HGNC	protein_coding	OTTHUMT00000130646.6	-	0.00	39	0	C	XM_291007		234741841	+1	tier1	-	no_errors	ENST00000389758	ensembl	human	novel	74_37	missense	11.11	32	4	SNP	0.984	T
MTBP	27085	genome.wustl.edu	37	8	121473471	121473471	+	Missense_Mutation	SNP	A	A	G	rs371337948		TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr8:121473471A>G	ENST00000305949.1	+	9	998	c.953A>G	c.(952-954)tAt>tGt	p.Y318C		NM_022045.4	NP_071328.2	Q96DY7	MTBP_HUMAN	MDM2 binding protein	318					cell cycle arrest (GO:0007050)|mitotic spindle checkpoint (GO:0071174)|negative regulation of cell proliferation (GO:0008285)|protein localization to kinetochore (GO:0034501)|traversing start control point of mitotic cell cycle (GO:0007089)	chromatin (GO:0000785)|kinetochore (GO:0000776)				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			CCCTCCTGCTATATGTCGGAT	0.308																																																	0								A	CYS/TYR	1,4405	2.1+/-5.4	0,1,2202	124.0	119.0	121.0		953	5.8	0.9	8		121	0,8600		0,0,4300	no	missense	MTBP	NM_022045.3	194	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	probably-damaging	318/905	121473471	1,13005	2203	4300	6503	SO:0001583	missense	0				CCDS6333.1	8q24.1-q24.2	2014-03-03	2014-03-03		ENSG00000172167	ENSG00000172167			7417	protein-coding gene	gene with protein product		605927	"""MDM2 (mouse double minute 2)-binding protein, 104kD"", ""Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa"""			10906133, 11060448	Standard	NM_022045		Approved		uc003ypc.2	Q96DY7	OTTHUMG00000165040	ENST00000305949.1:c.953A>G	8.37:g.121473471A>G	ENSP00000303398:p.Tyr318Cys		B4DUR5|Q9HA89	Missense_Mutation	SNP	NULL	p.Y318C	ENST00000305949.1	37	c.953	CCDS6333.1	8	.	.	.	.	.	.	.	.	.	.	A	17.16	3.318441	0.60524	2.27E-4	0.0	ENSG00000172167	ENST00000305949	.	.	.	5.82	5.82	0.92795	.	0.125201	0.53938	D	0.000051	T	0.70780	0.3263	M	0.62723	1.935	0.36416	D	0.864025	D	0.89917	1.0	D	0.76575	0.988	T	0.78283	-0.2264	9	0.72032	D	0.01	-18.9193	9.699	0.40175	0.7412:0.0:0.0:0.2588	.	318	Q96DY7	MTBP_HUMAN	C	318	.	ENSP00000303398:Y318C	Y	+	2	0	MTBP	121542652	0.997000	0.39634	0.924000	0.36721	0.964000	0.63967	3.320000	0.51991	2.216000	0.71823	0.450000	0.29827	TAT	MTBP	-	NULL	ENSG00000172167		0.308	MTBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTBP	HGNC	protein_coding	OTTHUMT00000381530.1	-	0.00	57	0	A	NM_022045		121473471	+1	tier1	-	no_errors	ENST00000305949	ensembl	human	known	74_37	missense	24.19	47	15	SNP	0.948	G
MYNN	55892	genome.wustl.edu	37	3	169496707	169496707	+	Nonsense_Mutation	SNP	C	C	T			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr3:169496707C>T	ENST00000349841.5	+	3	1081	c.418C>T	c.(418-420)Caa>Taa	p.Q140*	RP11-362K14.5_ENST00000602342.1_RNA|MYNN_ENST00000356716.4_Nonsense_Mutation_p.Q140*|MYNN_ENST00000392733.1_Nonsense_Mutation_p.Q140*|MYNN_ENST00000544106.1_Nonsense_Mutation_p.Q140*	NM_018657.4	NP_061127.1	Q9NPC7	MYNN_HUMAN	myoneurin	140					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			TGAATTGAATCAACAGACTTG	0.348																																																	0													48.0	51.0	50.0					3																	169496707		2203	4300	6503	SO:0001587	stop_gained	0			AF148848	CCDS3207.1, CCDS54671.1	3q26.31	2013-01-09			ENSG00000085274	ENSG00000085274		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	14955	protein-coding gene	gene with protein product		606042				10873615	Standard	NM_001185118		Approved	SBBIZ1, ZBTB31, ZNF902	uc010hwo.3	Q9NPC7		ENST00000349841.5:c.418C>T	3.37:g.169496707C>T	ENSP00000326240:p.Gln140*		B2R6C9|Q6QHA6|Q6QHA7|Q6R3G1|Q6R3G2|Q6R4A0|Q7Z716|Q7Z717|Q86Z11|Q86Z12|Q9NS01|Q9UIW8	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.Q140*	ENST00000349841.5	37	c.418	CCDS3207.1	3	.	.	.	.	.	.	.	.	.	.	C	40	7.973216	0.98588	.	.	ENSG00000085274	ENST00000356716;ENST00000349841;ENST00000392733;ENST00000544106	.	.	.	5.35	5.35	0.76521	.	0.094628	0.48767	D	0.000171	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	.	14.6423	0.68734	0.0:0.8547:0.1453:0.0	.	.	.	.	X	140	.	ENSP00000326240:Q140X	Q	+	1	0	MYNN	170979401	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.541000	0.45735	2.510000	0.84645	0.650000	0.86243	CAA	MYNN	-	NULL	ENSG00000085274		0.348	MYNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYNN	HGNC	protein_coding	OTTHUMT00000467801.1	-	0.00	49	0	C	NM_018657		169496707	+1	tier1	-	no_errors	ENST00000349841	ensembl	human	known	74_37	nonsense	10.14	62	7	SNP	1.000	T
MYO5B	4645	genome.wustl.edu	37	18	47431143	47431143	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr18:47431143G>A	ENST00000285039.7	-	20	2769	c.2470C>T	c.(2470-2472)Cgc>Tgc	p.R824C	MYO5B_ENST00000324581.6_5'Flank	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	824	Arg-rich.|IQ 3. {ECO:0000255|PROSITE- ProRule:PRU00116}.				endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		CTCTGCATGCGGTAATGTTTC	0.612																																																	0													41.0	47.0	45.0					18																	47431143		1987	4152	6139	SO:0001583	missense	0			AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"""Myosins / Myosin superfamily : Class V"""	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.2470C>T	18.37:g.47431143G>A	ENSP00000285039:p.Arg824Cys		B0I1R3|Q0P656|Q9H6Y6	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.R824C	ENST00000285039.7	37	c.2470	CCDS42436.1	18	.	.	.	.	.	.	.	.	.	.	G	21.0	4.083419	0.76642	.	.	ENSG00000167306	ENST00000285039	T	0.74421	-0.84	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	D	0.92652	0.7665	H	0.99286	4.5	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95713	0.8759	10	0.87932	D	0	.	18.7212	0.91694	0.0:0.0:1.0:0.0	.	824	Q9ULV0	MYO5B_HUMAN	C	824	ENSP00000285039:R824C	ENSP00000285039:R824C	R	-	1	0	MYO5B	45685141	1.000000	0.71417	1.000000	0.80357	0.260000	0.26232	6.125000	0.71627	2.513000	0.84729	0.655000	0.94253	CGC	MYO5B	-	pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS	ENSG00000167306		0.612	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO5B	HGNC	protein_coding	OTTHUMT00000448515.2	-	0.00	95	0	G			47431143	-1	tier1	-	no_errors	ENST00000285039	ensembl	human	known	74_37	missense	28.57	75	30	SNP	1.000	A
MYOCD	93649	genome.wustl.edu	37	17	12649386	12649386	+	Silent	SNP	G	G	C			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr17:12649386G>C	ENST00000343344.4	+	9	1122	c.1122G>C	c.(1120-1122)ctG>ctC	p.L374L	MYOCD_ENST00000395988.1_3'UTR|AC005358.1_ENST00000609971.1_Silent_p.L278L|MYOCD_ENST00000425538.1_Silent_p.L374L			Q8IZQ8	MYCD_HUMAN	myocardin	374	SAP. {ECO:0000255|PROSITE- ProRule:PRU00186}.				cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		TGGATGATCTGAAGGTATAGG	0.403																																																	0													93.0	91.0	92.0					17																	12649386		2203	4300	6503	SO:0001819	synonymous_variant	0			AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.1122G>C	17.37:g.12649386G>C			Q5UBU5|Q8N7Q1	Silent	SNP	pfam_RPEL_repeat,pfam_SAP_dom,smart_RPEL_repeat,smart_SAP_dom,pfscan_RPEL_repeat,pfscan_SAP_dom	p.L374	ENST00000343344.4	37	c.1122	CCDS11163.1	17																																																																																			MYOCD	-	pfam_SAP_dom,smart_SAP_dom,pfscan_SAP_dom	ENSG00000141052		0.403	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	MYOCD	HGNC	protein_coding	OTTHUMT00000129950.1	-	0.00	49	0	G	NM_153604		12649386	+1	tier1	-	no_errors	ENST00000425538	ensembl	human	known	74_37	silent	8.33	44	4	SNP	0.998	C
N4BP2	55728	genome.wustl.edu	37	4	40103753	40103755	+	In_Frame_Del	DEL	ATC	ATC	-			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	ATC	ATC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr4:40103753_40103755delATC	ENST00000261435.6	+	4	704_706	c.288_290delATC	c.(286-291)gaatca>gaa	p.S99del		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	99					nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|endonuclease activity (GO:0004519)			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						AGATAGAAGAATCATCTTCACAA	0.335																																																	0																																										SO:0001651	inframe_deletion	0			AB037834	CCDS3457.1	4p14	2008-01-18			ENSG00000078177	ENSG00000078177			29851	protein-coding gene	gene with protein product	"""BCL-3 binding protein"""					10718198, 11717310	Standard	NM_018177		Approved	B3BP	uc003guy.4	Q86UW6	OTTHUMG00000128599	ENST00000261435.6:c.288_290delATC	4.37:g.40103756_40103758delATC	ENSP00000261435:p.Ser99del		A0AVR3|Q9NVK2|Q9P2D4	In_Frame_Del	DEL	pfam_DUF1771,pfam_Smr/MutS2_C,superfamily_P-loop_NTPase,superfamily_UBA-like,smart_Smr/MutS2_C,pfscan_CUE,pfscan_Smr/MutS2_C	p.S99in_frame_del	ENST00000261435.6	37	c.288_290	CCDS3457.1	4																																																																																			N4BP2	-	NULL	ENSG00000078177		0.335	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	N4BP2	HGNC	protein_coding	OTTHUMT00000250458.2		0.00	31	0	ATC	NM_018177		40103755	+1	tier1		no_errors	ENST00000261435	ensembl	human	known	74_37	in_frame_del	57.14	9	12	DEL	0.001:0.036:0.718	-
NBEAL1	65065	genome.wustl.edu	37	2	203991643	203991643	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr2:203991643A>G	ENST00000449802.1	+	22	3488	c.3155A>G	c.(3154-3156)tAt>tGt	p.Y1052C		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	1052										NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						CTTAGGATTTATTATGGGTAT	0.373																																																	0													272.0	223.0	238.0					2																	203991643		692	1591	2283	SO:0001583	missense	0			AY172970	CCDS46495.1	2q33	2013-01-10			ENSG00000144426	ENSG00000144426		"""WD repeat domain containing"""	20681	protein-coding gene	gene with protein product		609816	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17"", ""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16"""	ALS2CR17, ALS2CR16		15193433	Standard	NM_001114132		Approved	MGC164581	uc002uzt.3	Q6ZS30	OTTHUMG00000154129	ENST00000449802.1:c.3155A>G	2.37:g.203991643A>G	ENSP00000399903:p.Tyr1052Cys		A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Y1052C	ENST00000449802.1	37	c.3155	CCDS46495.1	2	.	.	.	.	.	.	.	.	.	.	A	18.84	3.708799	0.68615	.	.	ENSG00000144426	ENST00000449802;ENST00000340268	T	0.29142	1.58	5.31	5.31	0.75309	.	.	.	.	.	T	0.45316	0.1336	L	0.58101	1.795	0.80722	D	1	D	0.65815	0.995	P	0.55785	0.784	T	0.36383	-0.9750	9	0.45353	T	0.12	.	15.2009	0.73136	1.0:0.0:0.0:0.0	.	1052	Q6ZS30	NBEL1_HUMAN	C	1052	ENSP00000399903:Y1052C	ENSP00000344985:Y1052C	Y	+	2	0	NBEAL1	203699888	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.678000	0.91211	2.133000	0.65898	0.383000	0.25322	TAT	NBEAL1	-	NULL	ENSG00000144426		0.373	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBEAL1	HGNC	protein_coding	OTTHUMT00000333982.4	-	0.00	106	0	A			203991643	+1	tier1	-	no_errors	ENST00000449802	ensembl	human	known	74_37	missense	26.44	64	23	SNP	1.000	G
NLRP2	55655	genome.wustl.edu	37	19	55494687	55494687	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr19:55494687G>A	ENST00000543010.1	+	6	1764	c.1621G>A	c.(1621-1623)Gga>Aga	p.G541R	NLRP2_ENST00000339757.7_Missense_Mutation_p.G519R|NLRP2_ENST00000537859.1_Missense_Mutation_p.G519R|NLRP2_ENST00000427260.2_Missense_Mutation_p.G518R|NLRP2_ENST00000263437.6_Missense_Mutation_p.G538R|NLRP2_ENST00000538819.1_Missense_Mutation_p.G517R|NLRP2_ENST00000448584.2_Missense_Mutation_p.G541R|NLRP2_ENST00000391721.4_Missense_Mutation_p.G517R	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	541					positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GCTGCTTTCCGGAGTAGAAAG	0.557																																																	0													88.0	82.0	84.0					19																	55494687		2203	4300	6503	SO:0001583	missense	0			AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"""Nucleotide-binding domain and leucine rich repeat containing"""	22948	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"""	609364	"""NACHT, leucine rich repeat and PYD containing 2"""	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.1621G>A	19.37:g.55494687G>A	ENSP00000445135:p.Gly541Arg		B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.G541R	ENST00000543010.1	37	c.1621	CCDS12913.1	19	.	.	.	.	.	.	.	.	.	.	G	0.019	-1.457737	0.01071	.	.	ENSG00000022556	ENST00000543010;ENST00000391721;ENST00000339757;ENST00000448584;ENST00000537859;ENST00000427260;ENST00000538819;ENST00000263437	T;T;T;T;T;T;T;T	0.73681	-0.74;-0.68;-0.68;-0.74;-0.68;-0.77;-0.68;-0.74	1.7	-0.507	0.11985	.	0.757041	0.10837	N	0.628659	T	0.45115	0.1326	N	0.04203	-0.255	0.09310	N	1	B;B;B;B;B	0.10296	0.003;0.001;0.001;0.001;0.002	B;B;B;B;B	0.10450	0.005;0.002;0.001;0.003;0.003	T	0.25537	-1.0129	10	0.16896	T	0.51	.	4.2937	0.10890	0.6002:0.0:0.3998:0.0	.	518;519;538;517;541	B4DZL7;Q9NX02-2;A8K9G6;Q9NX02-4;Q9NX02	.;.;.;.;NALP2_HUMAN	R	541;517;519;541;519;518;517;538	ENSP00000445135:G541R;ENSP00000375601:G517R;ENSP00000344074:G519R;ENSP00000409370:G541R;ENSP00000440601:G519R;ENSP00000402474:G518R;ENSP00000441133:G517R;ENSP00000263437:G538R	ENSP00000263437:G538R	G	+	1	0	NLRP2	60186499	0.000000	0.05858	0.011000	0.14972	0.001000	0.01503	-0.376000	0.07465	-0.209000	0.10156	-1.267000	0.01435	GGA	NLRP2	-	NULL	ENSG00000022556		0.557	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NLRP2	HGNC	protein_coding	OTTHUMT00000396152.1	-	0.00	38	0	G	NM_017852		55494687	+1	tier1	-	no_errors	ENST00000448584	ensembl	human	known	74_37	missense	20.00	24	6	SNP	0.003	A
NPHP1	4867	genome.wustl.edu	37	2	110962506	110962506	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr2:110962506G>A	ENST00000393272.3	-	1	137	c.40C>T	c.(40-42)Cgg>Tgg	p.R14W	NPHP1_ENST00000417665.1_Missense_Mutation_p.R14W|NPHP1_ENST00000418527.1_Missense_Mutation_p.R14W|NPHP1_ENST00000316534.4_Missense_Mutation_p.R14W|NPHP1_ENST00000355301.4_Missense_Mutation_p.R14W|NPHP1_ENST00000445609.2_Missense_Mutation_p.R14W	NM_000272.3|NM_207181.2	NP_000263.2|NP_997064.2	O15259	NPHP1_HUMAN	nephronophthisis 1 (juvenile)	14					actin cytoskeleton organization (GO:0030036)|cell projection organization (GO:0030030)|cellular protein localization (GO:0034613)|excretion (GO:0007588)|photoreceptor cell outer segment organization (GO:0035845)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|spermatid differentiation (GO:0048515)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|motile cilium (GO:0031514)|photoreceptor connecting cilium (GO:0032391)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						TTGCGGCGCCGCAGGGCCTGG	0.677																																																	0													45.0	44.0	44.0					2																	110962506		2203	4300	6503	SO:0001583	missense	0			AF023674	CCDS2086.1, CCDS46384.1, CCDS46385.1, CCDS46386.1	2q13	2014-01-28			ENSG00000144061	ENSG00000144061			7905	protein-coding gene	gene with protein product	"""nephrocystin-1"""	607100		NPH1			Standard	NM_000272		Approved	JBTS4, SLSN1	uc002tfm.4	O15259	OTTHUMG00000131195	ENST00000393272.3:c.40C>T	2.37:g.110962506G>A	ENSP00000376953:p.Arg14Trp		O14837	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	p.R14W	ENST00000393272.3	37	c.40	CCDS46385.1	2	.	.	.	.	.	.	.	.	.	.	G	17.09	3.300784	0.60195	.	.	ENSG00000144061	ENST00000316534;ENST00000445609;ENST00000393272;ENST00000355301;ENST00000417665;ENST00000418527	T;T;T;T;T	0.63913	0.06;0.07;0.06;-0.07;0.07	4.93	2.02	0.26589	.	0.234516	0.35555	N	0.003131	T	0.60418	0.2267	L	0.29908	0.895	0.32129	N	0.586997	D;D;D;D;D;D;D	0.76494	0.991;0.995;0.999;0.987;0.995;0.995;0.999	B;B;P;P;B;P;P	0.56700	0.446;0.446;0.804;0.556;0.446;0.648;0.736	T	0.67581	-0.5634	10	0.72032	D	0.01	-6.1781	10.6568	0.45680	0.0:0.0:0.4733:0.5266	.	14;14;14;14;14;14;14	B4DQY0;C9JNM7;C9J082;O15259-3;O15259;O15259-2;O15259-4	.;.;.;.;NPHP1_HUMAN;.;.	W	14	ENSP00000313169:R14W;ENSP00000389879:R14W;ENSP00000376953:R14W;ENSP00000347452:R14W;ENSP00000402176:R14W	ENSP00000313169:R14W	R	-	1	2	NPHP1	110319795	0.999000	0.42202	0.972000	0.41901	0.527000	0.34593	1.292000	0.33342	0.234000	0.21139	-1.404000	0.01136	CGG	NPHP1	-	NULL	ENSG00000144061		0.677	NPHP1-001	KNOWN	basic|CCDS	protein_coding	NPHP1	HGNC	protein_coding	OTTHUMT00000253919.3	-	0.00	36	0	G	NM_000272		110962506	-1	tier1	-	no_errors	ENST00000316534	ensembl	human	known	74_37	missense	5.88	64	4	SNP	0.992	A
NUP107	57122	genome.wustl.edu	37	12	69127301	69127301	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr12:69127301A>G	ENST00000229179.4	+	24	2503	c.2171A>G	c.(2170-2172)tAt>tGt	p.Y724C	NUP107_ENST00000378905.2_Missense_Mutation_p.Y485C|NUP107_ENST00000401003.3_Intron|NUP107_ENST00000539906.1_Missense_Mutation_p.Y695C	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	724					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|structural constituent of nuclear pore (GO:0017056)		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			GCAGAAATCTATAATCAGTGC	0.383																																																	0													104.0	102.0	103.0					12																	69127301		2203	4300	6503	SO:0001583	missense	0			AK055629	CCDS8985.1	12q14	2004-03-19			ENSG00000111581	ENSG00000111581			29914	protein-coding gene	gene with protein product		607617				12552102, 12705868	Standard	XM_005269037		Approved	NUP84	uc001suf.3	P57740	OTTHUMG00000169265	ENST00000229179.4:c.2171A>G	12.37:g.69127301A>G	ENSP00000229179:p.Tyr724Cys		B4DZ67|Q6PJE1	Missense_Mutation	SNP	pfam_Nup84_Nup100	p.Y724C	ENST00000229179.4	37	c.2171	CCDS8985.1	12	.	.	.	.	.	.	.	.	.	.	a	12.00	1.807005	0.31961	.	.	ENSG00000111581	ENST00000229179;ENST00000378905;ENST00000539906	.	.	.	5.52	4.38	0.52667	.	0.053004	0.85682	N	0.000000	T	0.68320	0.2988	M	0.68952	2.095	0.31626	N	0.64972	B;D;B	0.89917	0.132;1.0;0.132	B;D;B	0.85130	0.05;0.997;0.05	T	0.73000	-0.4120	8	.	.	.	-10.2572	11.7987	0.52114	0.9312:0.0:0.0688:0.0	.	695;485;724	B4DZ67;Q6PJE1;P57740	.;.;NU107_HUMAN	C	724;485;695	.	.	Y	+	2	0	NUP107	67413568	1.000000	0.71417	1.000000	0.80357	0.305000	0.27757	5.715000	0.68430	1.044000	0.40200	-0.253000	0.11424	TAT	NUP107	-	pfam_Nup84_Nup100	ENSG00000111581		0.383	NUP107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP107	HGNC	protein_coding	OTTHUMT00000403195.1	-	0.00	30	0	A	NM_020401		69127301	+1	tier1	-	no_errors	ENST00000229179	ensembl	human	known	74_37	missense	21.88	25	7	SNP	1.000	G
OR10S1	219873	genome.wustl.edu	37	11	123847675	123847675	+	Missense_Mutation	SNP	T	T	C			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr11:123847675T>C	ENST00000531945.1	-	1	813	c.724A>G	c.(724-726)Atc>Gtc	p.I242V		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	242						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GCTGTGCGGATGCGCAACACA	0.587																																																	0													48.0	48.0	48.0					11																	123847675		2202	4299	6501	SO:0001583	missense	0			BK004509	CCDS31701.1	11q24.1	2012-08-09			ENSG00000196248	ENSG00000196248		"""GPCR / Class A : Olfactory receptors"""	14807	protein-coding gene	gene with protein product							Standard	NM_001004474		Approved		uc001pzm.1	Q8NGN2	OTTHUMG00000165963	ENST00000531945.1:c.724A>G	11.37:g.123847675T>C	ENSP00000431914:p.Ile242Val		B9EH43|Q6IEV3|Q96R78	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I242V	ENST00000531945.1	37	c.724	CCDS31701.1	11	.	.	.	.	.	.	.	.	.	.	T	8.864	0.947599	0.18356	.	.	ENSG00000196248	ENST00000531945	T	0.00267	8.38	4.85	3.72	0.42706	GPCR, rhodopsin-like superfamily (1);	0.161103	0.28748	U	0.014268	T	0.00178	0.0005	M	0.64080	1.96	0.09310	N	1	B	0.18461	0.028	B	0.15052	0.012	T	0.39663	-0.9603	10	0.39692	T	0.17	-12.6181	4.4635	0.11678	0.1461:0.1632:0.0:0.6907	.	242	Q8NGN2	O10S1_HUMAN	V	242	ENSP00000431914:I242V	ENSP00000431914:I242V	I	-	1	0	OR10S1	123352885	0.907000	0.30839	0.134000	0.22075	0.014000	0.08584	2.113000	0.41902	0.874000	0.35823	0.533000	0.62120	ATC	OR10S1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000196248		0.587	OR10S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10S1	HGNC	protein_coding	OTTHUMT00000387265.2	-	0.00	22	0	T	NM_001004474		123847675	-1	tier1	-	no_errors	ENST00000531945	ensembl	human	known	74_37	missense	47.06	9	8	SNP	0.000	C
OR10G8	219869	genome.wustl.edu	37	11	123900746	123900746	+	Silent	SNP	G	G	T	rs540634723		TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr11:123900746G>T	ENST00000431524.1	+	1	450	c.417G>T	c.(415-417)tcG>tcT	p.S139S		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	139						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		CTGGGCGCTCGTGTACTCTTC	0.562																																																	0													159.0	146.0	150.0					11																	123900746		2201	4299	6500	SO:0001819	synonymous_variant	0			AB065755	CCDS31704.1	11q24.1	2012-08-09			ENSG00000234560	ENSG00000234560		"""GPCR / Class A : Olfactory receptors"""	14845	protein-coding gene	gene with protein product							Standard	NM_001004464		Approved		uc001pzp.1	Q8NGN5	OTTHUMG00000165968	ENST00000431524.1:c.417G>T	11.37:g.123900746G>T			B2RNJ3|Q6IEV2	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S139	ENST00000431524.1	37	c.417	CCDS31704.1	11																																																																																			OR10G8	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000234560		0.562	OR10G8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10G8	HGNC	protein_coding	OTTHUMT00000387270.1	-	0.00	105	0	G	NM_001004464		123900746	+1	tier1	-	no_errors	ENST00000431524	ensembl	human	known	74_37	silent	28.79	94	38	SNP	0.000	T
OR4K1	79544	genome.wustl.edu	37	14	20404271	20404271	+	Nonsense_Mutation	SNP	G	G	A			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr14:20404271G>A	ENST00000285600.4	+	1	505	c.446G>A	c.(445-447)tGg>tAg	p.W149*		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	149						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		TCTATTTCCTGGGCGGTGGGC	0.463																																																	0													140.0	134.0	136.0					14																	20404271		2203	4300	6503	SO:0001587	stop_gained	0				CCDS32025.1	14q11.2	2013-09-23			ENSG00000155249	ENSG00000155249		"""GPCR / Class A : Olfactory receptors"""	14726	protein-coding gene	gene with protein product							Standard	NM_001004063		Approved		uc001vwj.2	Q8NGD4	OTTHUMG00000170633	ENST00000285600.4:c.446G>A	14.37:g.20404271G>A	ENSP00000285600:p.Trp149*		B9EKV9|Q8NGD6|Q96R73	Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.W149*	ENST00000285600.4	37	c.446	CCDS32025.1	14	.	.	.	.	.	.	.	.	.	.	.	33	5.272077	0.95429	.	.	ENSG00000155249	ENST00000285600	.	.	.	4.82	4.82	0.62117	.	0.000000	0.52532	D	0.000062	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.418	0.74987	0.0:0.0:1.0:0.0	.	.	.	.	X	149	.	ENSP00000285600:W149X	W	+	2	0	OR4K1	19474111	1.000000	0.71417	0.998000	0.56505	0.884000	0.51177	3.021000	0.49651	2.487000	0.83934	0.563000	0.77884	TGG	OR4K1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000155249		0.463	OR4K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4K1	HGNC	protein_coding	OTTHUMT00000409881.1	-	0.00	77	0	G			20404271	+1	tier1	-	no_errors	ENST00000285600	ensembl	human	known	74_37	nonsense	8.61	137	13	SNP	0.998	A
OR8B12	219858	genome.wustl.edu	37	11	124413294	124413294	+	Nonsense_Mutation	SNP	G	G	C			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr11:124413294G>C	ENST00000306842.2	-	1	281	c.257C>G	c.(256-258)tCa>tGa	p.S86*		NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B, member 12	86						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		GTTCTTCCTTGAGACAAAACT	0.433																																																	0													87.0	83.0	84.0					11																	124413294		2201	4299	6500	SO:0001587	stop_gained	0				CCDS31711.1	11q24.2	2013-09-24			ENSG00000170953	ENSG00000170953		"""GPCR / Class A : Olfactory receptors"""	15307	protein-coding gene	gene with protein product							Standard	NM_001005195		Approved		uc010sam.2	Q8NGG6	OTTHUMG00000165922	ENST00000306842.2:c.257C>G	11.37:g.124413294G>C	ENSP00000307159:p.Ser86*		B2RNF6|Q6IEW8|Q96RC7	Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.S86*	ENST00000306842.2	37	c.257	CCDS31711.1	11	.	.	.	.	.	.	.	.	.	.	G	18.89	3.718997	0.68844	.	.	ENSG00000170953	ENST00000306842	.	.	.	3.89	3.89	0.44902	.	0.319279	0.22908	N	0.054166	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	.	4.9971	0.14245	0.1058:0.0:0.6835:0.2108	.	.	.	.	X	86	.	ENSP00000307159:S86X	S	-	2	0	OR8B12	123918504	0.000000	0.05858	0.971000	0.41717	0.718000	0.41266	0.774000	0.26675	2.457000	0.83068	0.650000	0.86243	TCA	OR8B12	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000170953		0.433	OR8B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8B12	HGNC	protein_coding	OTTHUMT00000387061.1	-	0.00	28	0	G			124413294	-1	tier1	-	no_errors	ENST00000306842	ensembl	human	known	74_37	nonsense	61.54	10	16	SNP	0.981	C
PANX3	116337	genome.wustl.edu	37	11	124489477	124489477	+	Silent	SNP	C	C	A			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr11:124489477C>A	ENST00000284288.2	+	4	892	c.825C>A	c.(823-825)tcC>tcA	p.S275S		NM_052959.2	NP_443191.1	Q96QZ0	PANX3_HUMAN	pannexin 3	275					cell-cell signaling (GO:0007267)|ion transport (GO:0006811)|protein hexamerization (GO:0034214)|transmembrane transport (GO:0055085)	gap junction (GO:0005921)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gap junction hemi-channel activity (GO:0055077)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1)	26	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)		TTAGCCTCTCCAGTGTAGCAA	0.463																																																	0													117.0	107.0	111.0					11																	124489477		2201	4299	6500	SO:0001819	synonymous_variant	0			AF406650	CCDS8447.1	11q24.2	2011-12-02			ENSG00000154143	ENSG00000154143		"""Ion channels / Pannexins"""	20573	protein-coding gene	gene with protein product		608422					Standard	NM_052959		Approved	Px3	uc001qah.3	Q96QZ0	OTTHUMG00000165925	ENST00000284288.2:c.825C>A	11.37:g.124489477C>A				Silent	SNP	pfam_Innexin,pfscan_Innexin	p.S275	ENST00000284288.2	37	c.825	CCDS8447.1	11																																																																																			PANX3	-	pfscan_Innexin	ENSG00000154143		0.463	PANX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PANX3	HGNC	protein_coding	OTTHUMT00000387064.1	-	0.00	76	0	C			124489477	+1	tier1	-	no_errors	ENST00000284288	ensembl	human	known	74_37	silent	18.89	73	17	SNP	0.164	A
PCDH15	65217	genome.wustl.edu	37	10	55892731	55892731	+	Silent	SNP	T	T	C			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr10:55892731T>C	ENST00000320301.6	-	15	2215	c.1821A>G	c.(1819-1821)ccA>ccG	p.P607P	PCDH15_ENST00000395433.1_Silent_p.P585P|PCDH15_ENST00000395445.1_Silent_p.P614P|PCDH15_ENST00000395430.1_Silent_p.P607P|PCDH15_ENST00000373957.3_Silent_p.P585P|PCDH15_ENST00000395432.2_Silent_p.P570P|PCDH15_ENST00000437009.1_Intron|PCDH15_ENST00000373965.2_Silent_p.P614P|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395446.1_Silent_p.P607P|PCDH15_ENST00000409834.1_Silent_p.P218P|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000361849.3_Silent_p.P607P|PCDH15_ENST00000414778.1_Silent_p.P612P|PCDH15_ENST00000395438.1_Silent_p.P607P|PCDH15_ENST00000373955.1_Silent_p.P607P	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	607	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GATTATTTGGTGGAAGCACTT	0.413										HNSCC(58;0.16)																																							0													127.0	114.0	118.0					10																	55892731		2203	4300	6503	SO:0001819	synonymous_variant	0			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.1821A>G	10.37:g.55892731T>C			A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	NULL	p.H43R	ENST00000320301.6	37	c.128	CCDS7248.1	10																																																																																			PCDH15	-	NULL	ENSG00000150275		0.413	PCDH15-001	KNOWN	basic|CCDS	protein_coding	PCDH15	HGNC	protein_coding	OTTHUMT00000048121.2	-	0.00	60	0	T	NM_033056		55892731	-1	tier1	-	no_errors	ENST00000373956	ensembl	human	known	74_37	missense	37.50	34	21	SNP	0.978	C
PCDHGA6	56109	genome.wustl.edu	37	5	140754632	140754632	+	Nonsense_Mutation	SNP	C	C	T			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr5:140754632C>T	ENST00000517434.1	+	1	982	c.982C>T	c.(982-984)Cga>Tga	p.R328*	PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6	328	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCAGGTCTTCGAGACAGAGC	0.428																																																	0													150.0	156.0	154.0					5																	140754632		1875	4098	5973	SO:0001587	stop_gained	0			AF152513	CCDS54926.1, CCDS75335.1	5q31	2010-01-26				ENSG00000253731		"""Cadherins / Protocadherins : Clustered"""	8704	other	protocadherin		606293				10380929	Standard	NM_018919		Approved	PCDH-GAMMA-A6		Q9Y5G7		ENST00000517434.1:c.982C>T	5.37:g.140754632C>T	ENSP00000429601:p.Arg328*		A6H8K7|B2RN55|Q9Y5D1	Nonsense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R328*	ENST00000517434.1	37	c.982	CCDS54926.1	5	.	.	.	.	.	.	.	.	.	.	.	19.12	3.764994	0.69878	.	.	ENSG00000253731	ENST00000517434	.	.	.	5.25	1.19	0.21007	.	3.053800	0.03411	U	0.204832	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	.	3.5292	0.07770	0.5634:0.2093:0.1253:0.102	.	.	.	.	X	328	.	ENSP00000429601:R328X	R	+	1	2	PCDHGA6	140734816	0.000000	0.05858	0.582000	0.28627	0.675000	0.39556	-0.383000	0.07398	0.355000	0.24131	0.655000	0.94253	CGA	PCDHGA6	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000253731		0.428	PCDHGA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA6	HGNC	protein_coding	OTTHUMT00000374743.1	-	0.00	44	0	C	NM_018919		140754632	+1	tier1	-	no_errors	ENST00000517434	ensembl	human	known	74_37	nonsense	52.00	12	13	SNP	0.000	T
PCGF6	84108	genome.wustl.edu	37	10	105110755	105110756	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	CA	CA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr10:105110755_105110756delCA	ENST00000369847.3	-	1	135_136	c.68_69delTG	c.(67-69)ttgfs	p.L23fs	PCGF6_ENST00000337211.4_Frame_Shift_Del_p.L23fs|PCGF6_ENST00000490296.1_5'UTR	NM_001011663.1	NP_001011663.1	Q9BYE7	PCGF6_HUMAN	polycomb group ring finger 6	23	Pro-rich.		L -> LPP. {ECO:0000269|PubMed:12167161, ECO:0000269|PubMed:15489334}.		negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)	8		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;2.57e-09)|all cancers(201;7.21e-08)|BRCA - Breast invasive adenocarcinoma(275;0.205)		gcggaggcggCAAGGCTGCAGC	0.743																																																	0																																										SO:0001589	frameshift_variant	0			AB047006	CCDS7546.1, CCDS31275.1	10q24.33	2013-01-09	2005-01-17	2005-01-19	ENSG00000156374	ENSG00000156374		"""RING-type (C3HC4) zinc fingers"", ""Polycomb group ring fingers"""	21156	protein-coding gene	gene with protein product		607816	"""ring finger protein 134"""	RNF134		12167161	Standard	NM_032154		Approved	MBLR	uc001kwt.3	Q9BYE7	OTTHUMG00000018982	ENST00000369847.3:c.68_69delTG	10.37:g.105110755_105110756delCA	ENSP00000358862:p.Leu23fs		A8K3R4|Q5SYD1|Q5SYD6|Q96ID9|Q96SJ1	Frame_Shift_Del	DEL	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.L23fs	ENST00000369847.3	37	c.69_68	CCDS31275.1	10																																																																																			PCGF6	-	NULL	ENSG00000156374		0.743	PCGF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCGF6	HGNC	protein_coding	OTTHUMT00000050132.1		0.00	16	0	CA	NM_032154		105110756	-1	tier1		no_errors	ENST00000369847	ensembl	human	known	74_37	frame_shift_del	33.33	4	2	DEL	0.953:0.836	-
PCNX	22990	genome.wustl.edu	37	14	71374637	71374637	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr14:71374637G>T	ENST00000304743.2	+	1	516	c.70G>T	c.(70-72)Gac>Tac	p.D24Y	PCNX_ENST00000439984.3_Missense_Mutation_p.D24Y|PCNX_ENST00000238570.5_Missense_Mutation_p.D24Y	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	24						integral component of membrane (GO:0016021)				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		CTGGTACTACGACCCGCACCA	0.711																																																	0													53.0	36.0	42.0					14																	71374637		2201	4300	6501	SO:0001583	missense	0			AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"""pecanex-like 1 (Drosophila)"""	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.70G>T	14.37:g.71374637G>T	ENSP00000304192:p.Asp24Tyr		B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	pfam_Pecanex	p.D24Y	ENST00000304743.2	37	c.70	CCDS9806.1	14	.	.	.	.	.	.	.	.	.	.	g	14.82	2.649180	0.47362	.	.	ENSG00000100731	ENST00000304743;ENST00000238570;ENST00000439984	T;T;T	0.63255	-0.03;-0.03;-0.03	2.36	1.43	0.22495	.	0.342511	0.22179	U	0.063529	T	0.68220	0.2977	M	0.65677	2.01	0.36664	D	0.878093	D;D;P	0.65815	0.995;0.995;0.852	P;P;P	0.58928	0.791;0.848;0.655	T	0.70880	-0.4752	10	0.87932	D	0	.	6.2683	0.20941	0.1584:0.0:0.8416:0.0	.	24;24;24	B2RTR6;Q96RV3;Q96RV3-2	.;PCX1_HUMAN;.	Y	24	ENSP00000304192:D24Y;ENSP00000238570:D24Y;ENSP00000396617:D24Y	ENSP00000238570:D24Y	D	+	1	0	PCNX	70444390	1.000000	0.71417	0.266000	0.24541	0.951000	0.60555	6.276000	0.72601	0.316000	0.23135	0.290000	0.19541	GAC	PCNX	-	NULL	ENSG00000100731		0.711	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNX	HGNC	protein_coding	OTTHUMT00000412479.1	-	0.00	55	0	G	NM_014982		71374637	+1	tier1	-	no_errors	ENST00000304743	ensembl	human	known	74_37	missense	13.41	71	11	SNP	1.000	T
PHACTR1	221692	genome.wustl.edu	37	6	13278443	13278443	+	Intron	SNP	C	C	T			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr6:13278443C>T	ENST00000379335.3	+	2	244				RP1-257A7.4_ENST00000606150.1_RNA|RP1-257A7.4_ENST00000399446.2_RNA|PHACTR1_ENST00000332995.7_Intron|PHACTR1_ENST00000457702.2_Intron|PHACTR1_ENST00000379329.1_Intron			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1						actin cytoskeleton reorganization (GO:0031532)|actomyosin structure organization (GO:0031032)|cell motility (GO:0048870)|stress fiber assembly (GO:0043149)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)|synapse (GO:0045202)	actin binding (GO:0003779)|protein phosphatase inhibitor activity (GO:0004864)			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			CCAAAGGATGCACCTGTACAC	0.438																																																	0													37.0	38.0	38.0					6																	13278443		692	1591	2283	SO:0001627	intron_variant	0			AB051520	CCDS75401.1	6p23	2013-01-24	2004-05-20	2004-05-21	ENSG00000112137	ENSG00000112137		"""Phosphatase and actin regulators"""	20990	protein-coding gene	gene with protein product		608723	"""RPEL repeat containing 1"""	RPEL1		11214970, 15107502	Standard	NM_030948		Approved	KIAA1733, dJ257A7.2	uc010jpc.3	Q9C0D0	OTTHUMG00000014270	ENST00000379335.3:c.140-57C>T	6.37:g.13278443C>T			A8K1V2|Q3MJ93|Q5JSJ2	RNA	SNP	-	NULL	ENST00000379335.3	37	NULL		6																																																																																			PHACTR1	-	-	ENSG00000112137		0.438	PHACTR1-003	KNOWN	basic|appris_candidate	protein_coding	PHACTR1	HGNC	protein_coding	OTTHUMT00000039878.1	-	0.00	37	0	C	XM_166420		13278443	+1	tier1	-	no_errors	ENST00000481706	ensembl	human	known	74_37	rna	12.12	29	4	SNP	0.000	T
PIK3CA	5290	genome.wustl.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	1582	Substitution - Missense(1582)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)											99.0	89.0	92.0					3																	178952085		1912	4130	6042	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3140A>G	3.37:g.178952085A>G	ENSP00000263967:p.His1047Arg		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.H1047R	ENST00000263967.3	37	c.3140	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	A	14.34	2.506328	0.44558	.	.	ENSG00000121879	ENST00000263967	T	0.80214	-1.35	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.62466	0.2430	N	0.08118	0	0.80722	D	1	P	0.38597	0.639	B	0.28011	0.085	T	0.67526	-0.5648	10	0.40728	T	0.16	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	R	1047	ENSP00000263967:H1047R	ENSP00000263967:H1047R	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT	PIK3CA	-	superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000121879		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	-	0.00	22	0	A			178952085	+1	tier1	rs121913279	no_errors	ENST00000263967	ensembl	human	known	74_37	missense	27.59	21	8	SNP	1.000	G
PIK3R2	5296	genome.wustl.edu	37	19	18273104	18273104	+	Missense_Mutation	SNP	T	T	C			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr19:18273104T>C	ENST00000593731.1	+	8	1554	c.994T>C	c.(994-996)Tgg>Cgg	p.W332R	PIK3R2_ENST00000222254.8_Missense_Mutation_p.W332R			O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2 (beta)	332	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.				blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)	phosphatidylinositol 3-kinase regulator activity (GO:0035014)|receptor tyrosine kinase binding (GO:0030971)	p.D334fs*8(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24					Isoprenaline(DB01064)	TGAGTGGTACTGGGGGGACAT	0.652																																																	1	Insertion - Frameshift(1)	large_intestine(1)											19.0	18.0	18.0					19																	18273104		2200	4299	6499	SO:0001583	missense	0				CCDS12371.1	19p13.11	2013-03-28	2008-02-04		ENSG00000105647	ENSG00000105647		"""SH2 domain containing"""	8980	protein-coding gene	gene with protein product		603157				1314371	Standard	NM_005027		Approved	P85B, p85	uc002nia.2	O00459	OTTHUMG00000183383	ENST00000593731.1:c.994T>C	19.37:g.18273104T>C	ENSP00000471914:p.Trp332Arg		Q5EAT5|Q9UPH9	Missense_Mutation	SNP	pfam_SH2,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_SH3_domain,smart_RhoGAP_dom,smart_SH2,pfscan_SH2,pfscan_SH3_domain,pfscan_RhoGAP_dom,prints_PI3kinase_P85,prints_SH2	p.W332R	ENST00000593731.1	37	c.994	CCDS12371.1	19	.	.	.	.	.	.	.	.	.	.	T	20.6	4.015233	0.75161	.	.	ENSG00000105647	ENST00000222254	T	0.63580	-0.05	4.43	4.43	0.53597	SH2 motif (4);	0.000000	0.85682	D	0.000000	T	0.80706	0.4674	M	0.87971	2.92	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84463	0.0595	10	0.87932	D	0	-23.0988	13.1711	0.59599	0.0:0.0:0.0:1.0	.	332	O00459	P85B_HUMAN	R	332	ENSP00000222254:W332R	ENSP00000222254:W332R	W	+	1	0	PIK3R2	18134104	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	7.843000	0.86859	1.787000	0.52448	0.402000	0.26972	TGG	PIK3R2	-	pfam_SH2,smart_SH2,pfscan_SH2,prints_PI3kinase_P85	ENSG00000105647		0.652	PIK3R2-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	PIK3R2	HGNC	protein_coding	OTTHUMT00000466386.2		0.00	26	0	T	NM_005027		18273104	+1			no_errors	ENST00000222254	ensembl	human	known	74_37	missense	6.25	30	2	SNP	1.000	C
PLA2G4D	283748	genome.wustl.edu	37	15	42363452	42363452	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr15:42363452C>T	ENST00000290472.3	-	17	1839	c.1745G>A	c.(1744-1746)gGc>gAc	p.G582D		NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD (cytosolic)	582	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phospholipase A2 activity (GO:0004623)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		CAGCGCCGTGCCTGGCTGCAG	0.647																																																	0													25.0	29.0	28.0					15																	42363452		2202	4297	6499	SO:0001583	missense	0			AB090876	CCDS32203.1	15q14	2008-09-19				ENSG00000159337	3.1.1.4		30038	protein-coding gene	gene with protein product		612864				14709560	Standard	NM_178034		Approved	cPLA2delta	uc001zox.3	Q86XP0		ENST00000290472.3:c.1745G>A	15.37:g.42363452C>T	ENSP00000290472:p.Gly582Asp		Q8N176	Missense_Mutation	SNP	pfam_LysoPLipase_cat_dom,pfam_C2_dom,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_dom,smart_C2_dom,smart_LysoPLipase_cat_dom,pfscan_C2_dom,pfscan_LysoPLipase_cat_dom	p.G582D	ENST00000290472.3	37	c.1745	CCDS32203.1	15	.	.	.	.	.	.	.	.	.	.	C	11.66	1.703625	0.30232	.	.	ENSG00000159337	ENST00000290472	T	0.04234	3.67	5.23	5.23	0.72850	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (2);	0.271248	0.31542	N	0.007468	T	0.09024	0.0223	M	0.70275	2.135	0.09310	N	1	P	0.48764	0.915	P	0.45343	0.477	T	0.31833	-0.9929	10	0.13108	T	0.6	-14.4414	13.326	0.60459	0.1587:0.8413:0.0:0.0	.	582	Q86XP0	PA24D_HUMAN	D	582	ENSP00000290472:G582D	ENSP00000290472:G582D	G	-	2	0	PLA2G4D	40150744	0.393000	0.25237	0.164000	0.22755	0.074000	0.17049	2.725000	0.47294	2.466000	0.83321	0.650000	0.86243	GGC	PLA2G4D	-	superfamily_Acyl_Trfase/lysoPLipase,smart_LysoPLipase_cat_dom,pfscan_LysoPLipase_cat_dom	ENSG00000159337		0.647	PLA2G4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLA2G4D	HGNC	protein_coding	OTTHUMT00000419317.1	-	0.00	50	0	C	NM_178034		42363452	-1	tier1	-	no_errors	ENST00000290472	ensembl	human	known	74_37	missense	7.27	51	4	SNP	0.015	T
PLEKHA5	54477	genome.wustl.edu	37	12	19518920	19518920	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr12:19518920G>T	ENST00000299275.6	+	24	3139	c.3133G>T	c.(3133-3135)Gca>Tca	p.A1045S	PLEKHA5_ENST00000424268.1_Missense_Mutation_p.A1034S|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.A1108S|PLEKHA5_ENST00000543806.1_Missense_Mutation_p.A1027S|PLEKHA5_ENST00000539256.1_Missense_Mutation_p.A803S|PLEKHA5_ENST00000359180.3_Missense_Mutation_p.A989S|PLEKHA5_ENST00000429027.2_Missense_Mutation_p.A1211S|PLEKHA5_ENST00000355397.3_Missense_Mutation_p.A1103S|PLEKHA5_ENST00000538714.1_Missense_Mutation_p.A1103S	NM_019012.5	NP_061885.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	1045					reproductive system development (GO:0061458)	cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)	p.A1206T(1)|p.A1045T(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					AACACAGACCGCAAATCATAA	0.313																																					Pancreas(196;329 2193 11246 14234 19524)												2	Substitution - Missense(2)	large_intestine(2)											74.0	68.0	70.0					12																	19518920		2203	4300	6503	SO:0001583	missense	0			AF302150	CCDS8682.1, CCDS44840.1, CCDS44840.2, CCDS55809.1, CCDS58213.1, CCDS58214.1	12p12	2013-01-10			ENSG00000052126	ENSG00000052126		"""Pleckstrin homology (PH) domain containing"""	30036	protein-coding gene	gene with protein product		607770				11214970, 11001876	Standard	NM_001143821		Approved	PEPP2, KIAA1686, FLJ10667	uc031qgo.1	Q9HAU0	OTTHUMG00000167921	ENST00000299275.6:c.3133G>T	12.37:g.19518920G>T	ENSP00000299275:p.Ala1045Ser		A0JP03|B4DGS1|E9PHQ3|F5H0I0|Q6NSF8|Q86ST7|Q8N3K6|Q96DY9|Q9BVR4|Q9C0H7|Q9H924|Q9NVK8	Missense_Mutation	SNP	pfam_Pleckstrin_homology,superfamily_WW_dom,smart_WW_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_WW_dom	p.A1108S	ENST00000299275.6	37	c.3322	CCDS8682.1	12	.	.	.	.	.	.	.	.	.	.	A	7.048	0.563899	0.13498	.	.	ENSG00000052126	ENST00000317589;ENST00000355397;ENST00000359180;ENST00000429027;ENST00000299275;ENST00000539256;ENST00000538714;ENST00000424268;ENST00000543806;ENST00000538972	T;T;T;T;T;T;T;T;T;T	0.35048	1.33;1.33;1.33;1.33;1.33;1.33;1.33;1.33;1.33;1.33	4.45	-3.19	0.05171	.	0.677862	0.13821	N	0.360427	T	0.17408	0.0418	N	0.19112	0.55	0.09310	N	1	B;B;B;B;B	0.28055	0.017;0.01;0.001;0.038;0.199	B;B;B;B;B	0.31442	0.033;0.015;0.004;0.038;0.13	T	0.15378	-1.0439	10	0.34782	T	0.22	-0.797	2.1216	0.03727	0.2511:0.2626:0.3577:0.1286	.	1027;1034;989;1045;1103	F5H0I0;E7EME8;Q9HAU0-5;Q9HAU0;Q9HAU0-2	.;.;.;PKHA5_HUMAN;.	S	1108;1103;989;1211;1045;803;1103;1034;1027;326	ENSP00000325155:A1108S;ENSP00000347560:A1103S;ENSP00000352104:A989S;ENSP00000404296:A1211S;ENSP00000299275:A1045S;ENSP00000440611:A803S;ENSP00000439673:A1103S;ENSP00000400411:A1034S;ENSP00000439837:A1027S;ENSP00000443553:A326S	ENSP00000299275:A1045S	A	+	1	0	PLEKHA5	19410187	0.097000	0.21791	0.011000	0.14972	0.065000	0.16274	-0.152000	0.10159	-1.071000	0.03145	-0.530000	0.04314	GCA	PLEKHA5	-	NULL	ENSG00000052126		0.313	PLEKHA5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLEKHA5	HGNC	protein_coding	OTTHUMT00000397013.1		0.00	23	0	G	NM_019012		19518920	+1			no_errors	ENST00000317589	ensembl	human	known	74_37	missense	5.41	35	2	SNP	0.117	T
PLEKHA7	144100	genome.wustl.edu	37	11	16816072	16816072	+	Missense_Mutation	SNP	G	G	T	rs541641545		TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr11:16816072G>T	ENST00000355661.3	-	19	2718	c.2708C>A	c.(2707-2709)tCc>tAc	p.S903Y	PLEKHA7_ENST00000531066.1_Missense_Mutation_p.S903Y|PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000332954.4_5'Flank|PLEKHA7_ENST00000448080.2_Missense_Mutation_p.S903Y			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	903	Pro-rich.				epithelial cell-cell adhesion (GO:0090136)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|zonula adherens (GO:0005915)	delta-catenin binding (GO:0070097)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						CTGAAGGGGGGATGTCACTTT	0.547																																																	0													66.0	70.0	69.0					11																	16816072		2200	4294	6494	SO:0001583	missense	0			BC033239	CCDS31434.1	11p15	2013-01-10			ENSG00000166689	ENSG00000166689		"""Pleckstrin homology (PH) domain containing"""	27049	protein-coding gene	gene with protein product		612686				12477932	Standard	NM_175058		Approved	DKFZp686M22243	uc001mmo.3	Q6IQ23	OTTHUMG00000165954	ENST00000355661.3:c.2708C>A	11.37:g.16816072G>T	ENSP00000347883:p.Ser903Tyr		B4DK33|B4DWC3|Q86VZ7	Missense_Mutation	SNP	pfam_Pleckstrin_homology,pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_WW_dom	p.S903Y	ENST00000355661.3	37	c.2708	CCDS31434.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.71|18.71	3.682081|3.682081	0.68042|0.68042	.|.	.|.	ENSG00000166689|ENSG00000166689	ENST00000530489|ENST00000531066;ENST00000355661;ENST00000448080	.|T;T;T	.|0.20881	.|2.04;2.04;2.04	5.6|5.6	5.6|5.6	0.85130|0.85130	.|.	.|0.346122	.|0.31697	.|N	.|0.007211	T|T	0.41743|0.41743	0.1172|0.1172	L|L	0.54323|0.54323	1.7|1.7	0.42212|0.42212	D|D	0.991813|0.991813	.|P;P;D;D	.|0.64830	.|0.919;0.788;0.994;0.993	.|B;B;P;P	.|0.60173	.|0.325;0.406;0.87;0.858	T|T	0.14952|0.14952	-1.0454|-1.0454	5|10	.|0.87932	.|D	.|0	-18.6678|-18.6678	19.9855|19.9855	0.97347|0.97347	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|477;903;903;903	.|Q6IQ23-3;E9PKC0;Q6IQ23;Q6IQ23-2	.|.;.;PKHA7_HUMAN;.	T|Y	534|903	.|ENSP00000435389:S903Y;ENSP00000347883:S903Y;ENSP00000416895:S903Y	.|ENSP00000347883:S903Y	P|S	-|-	1|2	0|0	PLEKHA7|PLEKHA7	16772648|16772648	1.000000|1.000000	0.71417|0.71417	0.558000|0.558000	0.28319|0.28319	0.996000|0.996000	0.88848|0.88848	4.087000|4.087000	0.57671|0.57671	2.806000|2.806000	0.96561|0.96561	0.655000|0.655000	0.94253|0.94253	CCC|TCC	PLEKHA7	-	NULL	ENSG00000166689		0.547	PLEKHA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLEKHA7	HGNC	protein_coding	OTTHUMT00000387242.2		0.00	50	0	G	NM_175058		16816072	-1			no_errors	ENST00000448080	ensembl	human	known	74_37	missense	6.98	40	3	SNP	0.809	T
POLR1A	25885	genome.wustl.edu	37	2	86271425	86271425	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr2:86271425C>T	ENST00000263857.6	-	22	3350	c.2972G>A	c.(2971-2973)tGc>tAc	p.C991Y	POLR1A_ENST00000409681.1_Missense_Mutation_p.C991Y			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	991					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)	p.C991F(1)		NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						CTTGATGATGCACCTGTAAGG	0.632																																																	1	Substitution - Missense(1)	large_intestine(1)											88.0	94.0	92.0					2																	86271425		2106	4220	6326	SO:0001583	missense	0			AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"""RNA polymerase subunits"""	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.2972G>A	2.37:g.86271425C>T	ENSP00000263857:p.Cys991Tyr		B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Missense_Mutation	SNP	pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_Rpb1_1,smart_RNA_pol_N	p.C991Y	ENST00000263857.6	37	c.2972	CCDS42706.1	2	.	.	.	.	.	.	.	.	.	.	C	19.66	3.869081	0.72065	.	.	ENSG00000068654	ENST00000263857;ENST00000409681	T;T	0.68903	-0.36;-0.36	5.69	5.69	0.88448	RNA polymerase Rpb1, domain 5 (1);	0.000000	0.85682	D	0.000000	D	0.88112	0.6349	H	0.95187	3.635	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91001	0.4842	10	0.87932	D	0	-21.1397	19.8154	0.96566	0.0:1.0:0.0:0.0	.	357;991	B7Z8X7;O95602	.;RPA1_HUMAN	Y	991	ENSP00000263857:C991Y;ENSP00000386300:C991Y	ENSP00000263857:C991Y	C	-	2	0	POLR1A	86124936	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	7.487000	0.81328	2.699000	0.92147	0.655000	0.94253	TGC	POLR1A	-	pfam_RNA_pol_Rpb1_5	ENSG00000068654		0.632	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR1A	HGNC	protein_coding	OTTHUMT00000329830.2		0.00	31	0	C	NM_015425		86271425	-1			no_errors	ENST00000263857	ensembl	human	known	74_37	missense	5.88	48	3	SNP	1.000	T
PPIL2	23759	genome.wustl.edu	37	22	22043027	22043027	+	Missense_Mutation	SNP	A	A	T			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr22:22043027A>T	ENST00000335025.8	+	15	1119	c.1028A>T	c.(1027-1029)gAg>gTg	p.E343V	PPIL2_ENST00000398831.3_Missense_Mutation_p.E343V|PPIL2_ENST00000492445.2_Missense_Mutation_p.E343V|PPIL2_ENST00000456792.2_Missense_Mutation_p.E322V|PPIL2_ENST00000412327.1_Missense_Mutation_p.E343V|PPIL2_ENST00000446951.1_3'UTR|PPIL2_ENST00000406385.1_Missense_Mutation_p.E343V					peptidylprolyl isomerase (cyclophilin)-like 2											endometrium(4)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	17	Colorectal(54;0.105)					CCAGGTGGGGAGTCATACTGG	0.637																																																	0													61.0	61.0	61.0					22																	22043027		2203	4300	6503	SO:0001583	missense	0				CCDS13793.1	22q11.21	2013-01-29			ENSG00000100023	ENSG00000100023		"""U-box domain containing"""	9261	protein-coding gene	gene with protein product	"""U-box domain containing 7"""	607588				10591208	Standard	NM_014337		Approved	UBOX7, CYC4, Cyp-60	uc002zvh.4	Q13356	OTTHUMG00000030174	ENST00000335025.8:c.1028A>T	22.37:g.22043027A>T	ENSP00000334553:p.Glu343Val			Missense_Mutation	SNP	pfam_Cyclophilin-like_PPIase_dom,pfam_Rtf2_RING-finger,superfamily_Cyclophilin-like_PPIase_dom,smart_Ubox_domain,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom	p.E343V	ENST00000335025.8	37	c.1028	CCDS13793.1	22	.	.	.	.	.	.	.	.	.	.	A	18.70	3.680860	0.68042	.	.	ENSG00000100023	ENST00000412327;ENST00000335025;ENST00000398831;ENST00000492445;ENST00000406385;ENST00000456792;ENST00000446951	T;T;T;T;T;T;T	0.23754	1.89;1.89;1.89;1.89;1.89;1.89;1.89	4.25	4.25	0.50352	Peptidyl-prolyl cis-trans isomerase, cyclophilin-type (3);Cyclophilin-like (1);	0.000000	0.85682	D	0.000000	T	0.45438	0.1342	M	0.82323	2.585	0.80722	D	1	P;P;P	0.52842	0.956;0.93;0.916	P;B;P	0.54210	0.745;0.298;0.611	T	0.54516	-0.8282	10	0.87932	D	0	.	12.7581	0.57347	1.0:0.0:0.0:0.0	.	322;343;343	E7EW80;Q13356-2;Q13356	.;.;PPIL2_HUMAN	V	343;343;343;343;343;322;123	ENSP00000390427:E343V;ENSP00000334553:E343V;ENSP00000381812:E343V;ENSP00000445312:E343V;ENSP00000384299:E343V;ENSP00000396228:E322V;ENSP00000405214:E123V	ENSP00000334553:E343V	E	+	2	0	PPIL2	20373027	1.000000	0.71417	0.975000	0.42487	0.263000	0.26337	5.598000	0.67585	1.934000	0.56057	0.402000	0.26972	GAG	PPIL2	-	pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom	ENSG00000100023		0.637	PPIL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPIL2	HGNC	protein_coding	OTTHUMT00000075028.4	-	0.00	35	0	A			22043027	+1	tier1	-	no_errors	ENST00000412327	ensembl	human	known	74_37	missense	16.00	41	8	SNP	1.000	T
PRDM9	56979	genome.wustl.edu	37	5	23522919	23522919	+	Silent	SNP	G	G	T			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr5:23522919G>T	ENST00000296682.3	+	8	989	c.807G>T	c.(805-807)ctG>ctT	p.L269L		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	269	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						ATCTGCCGCTGGGTCTGCACT	0.567										HNSCC(3;0.000094)																																							0													73.0	72.0	72.0					5																	23522919		2203	4300	6503	SO:0001819	synonymous_variant	0			AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.807G>T	5.37:g.23522919G>T			B4DX22|Q27Q50	Silent	SNP	pfam_Znf_C2H2,pfam_SSXRD_motif,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel	p.L269	ENST00000296682.3	37	c.807	CCDS43307.1	5																																																																																			PRDM9	-	pfscan_SET_dom	ENSG00000164256		0.567	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDM9	HGNC	protein_coding	OTTHUMT00000366375.1	-	0.00	68	0	G	NM_020227		23522919	+1	tier1	-	no_errors	ENST00000296682	ensembl	human	known	74_37	silent	32.35	46	22	SNP	0.364	T
PRELP	5549	genome.wustl.edu	37	1	203452624	203452624	+	Silent	SNP	C	C	T			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr1:203452624C>T	ENST00000343110.2	+	2	439	c.312C>T	c.(310-312)atC>atT	p.I104I		NM_002725.3|NM_201348.1	NP_002716.1|NP_958505.1	P51888	PRELP_HUMAN	proline/arginine-rich end leucine-rich repeat protein	104					carbohydrate metabolic process (GO:0005975)|cell aging (GO:0007569)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			BRCA - Breast invasive adenocarcinoma(75;0.109)			CGCCCCGCATCCATTACCTCT	0.562																																																	0													88.0	87.0	87.0					1																	203452624		2203	4300	6503	SO:0001819	synonymous_variant	0			BC032498	CCDS1438.1	1q32	2008-02-05	2005-07-24		ENSG00000188783	ENSG00000188783		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	9357	protein-coding gene	gene with protein product	"""prolargin proteoglycan"""	601914	"""proline arginine-rich end leucine-rich repeat protein"""				Standard	NM_002725		Approved	SLRR2A, prolargin	uc001gzt.3	P51888	OTTHUMG00000035911	ENST00000343110.2:c.312C>T	1.37:g.203452624C>T			Q6FG38	Silent	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp	p.I104	ENST00000343110.2	37	c.312	CCDS1438.1	1																																																																																			PRELP	-	pfam_Leu-rich_rpt,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp	ENSG00000188783		0.562	PRELP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRELP	HGNC	protein_coding	OTTHUMT00000087474.1	-	0.00	67	0	C	NM_002725		203452624	+1	tier1	-	no_errors	ENST00000343110	ensembl	human	known	74_37	silent	33.87	41	21	SNP	1.000	T
PROS1	5627	genome.wustl.edu	37	3	93593135	93593135	+	Missense_Mutation	SNP	C	C	G			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr3:93593135C>G	ENST00000394236.3	-	15	2301	c.1985G>C	c.(1984-1986)aGa>aCa	p.R662T	PROS1_ENST00000407433.1_Missense_Mutation_p.R531T	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	662	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|negative regulation of endopeptidase activity (GO:0010951)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|endopeptidase inhibitor activity (GO:0004866)			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	TGAGTGAGCTCTAATATCATT	0.353																																																	0													87.0	82.0	84.0					3																	93593135		2203	4299	6502	SO:0001583	missense	0				CCDS2923.1	3q11.1	2013-06-03			ENSG00000184500	ENSG00000184500			9456	protein-coding gene	gene with protein product		176880		PROS		214811, 1833851	Standard	NM_000313		Approved		uc003drb.4	P07225	OTTHUMG00000150354	ENST00000394236.3:c.1985G>C	3.37:g.93593135C>G	ENSP00000377783:p.Arg662Thr		A8KAC9|D3DN28|Q15518|Q7Z715|Q9UCZ8	Missense_Mutation	SNP	pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,pfam_GLA_domain,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Laminin_G,prints_GLA_domain	p.R662T	ENST00000394236.3	37	c.1985	CCDS2923.1	3	.	.	.	.	.	.	.	.	.	.	C	11.66	1.705432	0.30232	.	.	ENSG00000184500	ENST00000394236;ENST00000407433	T;T	0.78364	-1.17;-1.17	4.61	4.61	0.57282	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.198836	0.50627	D	0.000103	T	0.68760	0.3036	L	0.41079	1.255	0.47862	D	0.999531	P	0.37525	0.598	B	0.37346	0.247	T	0.65981	-0.6036	10	0.10111	T	0.7	.	16.3492	0.83195	0.0:1.0:0.0:0.0	.	662	P07225	PROS_HUMAN	T	662;531	ENSP00000377783:R662T;ENSP00000385794:R531T	ENSP00000377783:R662T	R	-	2	0	PROS1	95075825	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	2.107000	0.41844	2.384000	0.81235	0.555000	0.69702	AGA	PROS1	-	superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G	ENSG00000184500		0.353	PROS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PROS1	HGNC	protein_coding	OTTHUMT00000317762.1	-	0.00	94	0	C	NM_000313		93593135	-1	tier1	-	no_errors	ENST00000394236	ensembl	human	known	74_37	missense	33.33	46	23	SNP	1.000	G
PRR16	51334	genome.wustl.edu	37	5	120021833	120021833	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr5:120021833C>T	ENST00000407149.2	+	2	553	c.344C>T	c.(343-345)aCg>aTg	p.T115M	PRR16_ENST00000505123.1_Missense_Mutation_p.T45M|PRR16_ENST00000446965.1_Missense_Mutation_p.T45M|PRR16_ENST00000379551.2_Missense_Mutation_p.T92M			Q569H4	LARGN_HUMAN	proline rich 16	115	Pro-rich.				positive regulation of cell size (GO:0045793)|positive regulation of translation (GO:0045727)			p.T92M(1)		endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		GCTATCCTCACGGTCCTGAGA	0.522																																																	1	Substitution - Missense(1)	lung(1)											143.0	125.0	131.0					5																	120021833		2203	4300	6503	SO:0001583	missense	0			AF242769	CCDS4127.1, CCDS75290.1	5q23.1	2006-08-22			ENSG00000184838	ENSG00000184838			29654	protein-coding gene	gene with protein product		615931				15971941	Standard	XM_005272010		Approved	DSC54	uc003ksp.3	Q569H4	OTTHUMG00000128903	ENST00000407149.2:c.344C>T	5.37:g.120021833C>T	ENSP00000385118:p.Thr115Met		D3DSZ0|Q8IXY1|Q9NYI5	Missense_Mutation	SNP	NULL	p.T115M	ENST00000407149.2	37	c.344		5	.	.	.	.	.	.	.	.	.	.	C	20.9	4.070552	0.76301	.	.	ENSG00000184838	ENST00000407149;ENST00000379551;ENST00000509923;ENST00000505123;ENST00000446965	T;T;T;T;T	0.53640	0.61;0.61;0.61;0.61;0.61	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.66396	0.2785	L	0.59436	1.845	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.63479	-0.6628	9	.	.	.	-2.7303	18.3984	0.90507	0.0:1.0:0.0:0.0	.	115;92	Q569H4;Q569H4-3	PRR16_HUMAN;.	M	115;92;45;45;45	ENSP00000385118:T115M;ENSP00000368869:T92M;ENSP00000421256:T45M;ENSP00000423446:T45M;ENSP00000405491:T45M	.	T	+	2	0	PRR16	120049732	1.000000	0.71417	0.958000	0.39756	0.880000	0.50808	7.393000	0.79851	2.640000	0.89533	0.549000	0.68633	ACG	PRR16	-	NULL	ENSG00000184838		0.522	PRR16-002	KNOWN	basic|appris_principal	protein_coding	PRR16	HGNC	protein_coding	OTTHUMT00000371059.1	-	0.00	33	0	C	NM_016644		120021833	+1	tier1	-	no_errors	ENST00000407149	ensembl	human	known	74_37	missense	46.15	14	12	SNP	1.000	T
PSPH	5723	genome.wustl.edu	37	7	56079282	56079283	+	3'UTR	INS	-	-	A	rs71015155		TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr7:56079282_56079283insA	ENST00000395471.3	-	0	1655_1656				PSPH_ENST00000275605.3_3'UTR|PSPH_ENST00000459834.1_5'UTR			P78330	SERB_HUMAN	phosphoserine phosphatase						cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|dephosphorylation (GO:0016311)|L-serine biosynthetic process (GO:0006564)|L-serine metabolic process (GO:0006563)|response to mechanical stimulus (GO:0009612)|response to nutrient levels (GO:0031667)|response to testosterone (GO:0033574)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)	calcium ion binding (GO:0005509)|magnesium ion binding (GO:0000287)|phosphoserine phosphatase activity (GO:0004647)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(1)|skin(1)	11	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GAACTACAGTTAAAAAAAAAAA	0.337																																																	0																																										SO:0001624	3_prime_UTR_variant	0			Y10275	CCDS5522.1	7p11.2	2012-10-02			ENSG00000146733	ENSG00000146733	3.1.3.3		9577	protein-coding gene	gene with protein product		172480		PSP		6297854, 9188776	Standard	NM_004577		Approved		uc003trh.3	P78330	OTTHUMG00000023441	ENST00000395471.3:c.*173->T	7.37:g.56079293_56079293dupA			B2RCR5|Q7Z3S5	RNA	INS	-	NULL	ENST00000395471.3	37	NULL	CCDS5522.1	7																																																																																			PSPH	-	-	ENSG00000146733		0.337	PSPH-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PSPH	HGNC	protein_coding	OTTHUMT00000343304.1		0.00	22	0	-	NM_004577		56079283	-1	tier1		no_errors	ENST00000459834	ensembl	human	known	74_37	rna	16.67	20	4	INS	0.001:0.001	A
PTPRG	5793	genome.wustl.edu	37	3	62278318	62278318	+	Intron	SNP	T	T	A			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr3:62278318T>A	ENST00000474889.1	+	29	4568				PTPRG-AS1_ENST00000495542.1_RNA|PTPRG-AS1_ENST00000490916.1_RNA|PTPRG_ENST00000295874.10_Intron|PTPRG-AS1_ENST00000462497.1_RNA|PTPRG-AS1_ENST00000498655.1_RNA|PTPRG-AS1_ENST00000466893.1_RNA|PTPRG-AS1_ENST00000474795.1_RNA|PTPRG-AS1_ENST00000475371.1_RNA|PTPRG-AS1_ENST00000479018.1_RNA	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G						brain development (GO:0007420)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of neuron projection development (GO:0010977)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		caattgggggtgattttgccc	0.438																																																	0																																										SO:0001627	intron_variant	0			L09247	CCDS2895.1	3p21-p14	2013-02-11			ENSG00000144724	ENSG00000144724		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9671	protein-coding gene	gene with protein product		176886		PTPG		1711217	Standard	NM_002841		Approved	RPTPG	uc003dlb.3	P23470	OTTHUMG00000158660	ENST00000474889.1:c.4191+87T>A	3.37:g.62278318T>A			B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5	RNA	SNP	-	NULL	ENST00000474889.1	37	NULL	CCDS2895.1	3																																																																																			PTPRG-AS1	-	-	ENSG00000241472		0.438	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRG-AS1	HGNC	protein_coding	OTTHUMT00000351674.1	-	0.00	12	0	T	NM_002841		62278318	-1	tier1	-	no_errors	ENST00000475371	ensembl	human	known	74_37	rna	60.00	4	6	SNP	0.010	A
PTPRT	11122	genome.wustl.edu	37	20	41419951	41419951	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr20:41419951C>T	ENST00000373187.1	-	3	369	c.370G>A	c.(370-372)Gtg>Atg	p.V124M	PTPRT_ENST00000373193.3_Missense_Mutation_p.V124M|PTPRT_ENST00000356100.2_Missense_Mutation_p.V124M|PTPRT_ENST00000373198.4_Missense_Mutation_p.V124M|PTPRT_ENST00000373184.1_Missense_Mutation_p.V124M|PTPRT_ENST00000373190.1_Missense_Mutation_p.V124M|PTPRT_ENST00000373201.1_Missense_Mutation_p.V124M			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	124	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)	p.V124M(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TTCACCTTCACGTAGACGTTC	0.582																																																	1	Substitution - Missense(1)	large_intestine(1)											76.0	79.0	78.0					20																	41419951		1966	4165	6131	SO:0001583	missense	0			AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.370G>A	20.37:g.41419951C>T	ENSP00000362283:p.Val124Met		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.V124M	ENST00000373187.1	37	c.370	CCDS42874.1	20	.	.	.	.	.	.	.	.	.	.	C	23.6	4.441403	0.83993	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.02787	4.16;4.16;4.16;4.16;4.16;4.16;4.16	5.67	5.67	0.87782	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.085201	0.56097	D	0.000036	T	0.16685	0.0401	M	0.79614	2.46	0.52099	D	0.999948	D;D	0.69078	0.997;0.996	D;D	0.67900	0.923;0.954	T	0.00037	-1.2252	10	0.87932	D	0	.	19.7626	0.96329	0.0:1.0:0.0:0.0	.	124;124	O14522-1;O14522	.;PTPRT_HUMAN	M	124	ENSP00000362286:V124M;ENSP00000362283:V124M;ENSP00000362289:V124M;ENSP00000348408:V124M;ENSP00000362294:V124M;ENSP00000362280:V124M;ENSP00000362297:V124M	ENSP00000348408:V124M	V	-	1	0	PTPRT	40853365	1.000000	0.71417	1.000000	0.80357	0.816000	0.46133	2.867000	0.48428	2.676000	0.91093	0.561000	0.74099	GTG	PTPRT	-	pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom	ENSG00000196090		0.582	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRT	HGNC	protein_coding	OTTHUMT00000080315.1	-	0.00	51	0	C			41419951	-1	tier1	-	no_errors	ENST00000373198	ensembl	human	known	74_37	missense	74.47	12	35	SNP	1.000	T
PTPRU	10076	genome.wustl.edu	37	1	29606613	29606613	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr1:29606613G>A	ENST00000345512.3	+	11	1957	c.1828G>A	c.(1828-1830)Gtg>Atg	p.V610M	PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000323874.8_Missense_Mutation_p.V610M|PTPRU_ENST00000428026.2_Missense_Mutation_p.V610M|PTPRU_ENST00000356870.3_Missense_Mutation_p.V610M|PTPRU_ENST00000373779.3_Missense_Mutation_p.V610M|PTPRU_ENST00000460170.2_Missense_Mutation_p.V610M	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	610	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|homotypic cell-cell adhesion (GO:0034109)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|organ regeneration (GO:0031100)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|response to glucocorticoid (GO:0051384)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		CACCATCACCGTGCTGCTGAG	0.652																																																	0													58.0	60.0	59.0					1																	29606613		2203	4300	6503	SO:0001583	missense	0			U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			ENSG00000060656	ENSG00000060656		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9683	protein-coding gene	gene with protein product	"""pi R-PTP-Psi"""	602454				8700514, 9434160	Standard	NM_133178		Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	Q92729	OTTHUMG00000003699	ENST00000345512.3:c.1828G>A	1.37:g.29606613G>A	ENSP00000334941:p.Val610Met		A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.V610M	ENST00000345512.3	37	c.1828	CCDS334.1	1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.021269	0.75275	.	.	ENSG00000060656	ENST00000345512;ENST00000373779;ENST00000356870;ENST00000323874;ENST00000428026;ENST00000460170	T;T;T;T;T;T	0.37752	1.21;1.24;1.25;1.25;1.18;1.25	5.35	5.35	0.76521	.	0.000000	0.64402	D	0.000002	T	0.64811	0.2632	M	0.83603	2.65	0.53005	D	0.999967	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.999	T	0.67860	-0.5561	9	.	.	.	.	18.0534	0.89356	0.0:0.0:1.0:0.0	.	610;610;610;610;610	Q92729-3;Q92729-4;Q92729-2;E9PH42;Q92729	.;.;.;.;PTPRU_HUMAN	M	610	ENSP00000334941:V610M;ENSP00000362884:V610M;ENSP00000349333:V610M;ENSP00000314987:V610M;ENSP00000392332:V610M;ENSP00000432906:V610M	.	V	+	1	0	PTPRU	29479200	1.000000	0.71417	0.942000	0.38095	0.632000	0.37999	9.619000	0.98369	2.479000	0.83701	0.544000	0.68410	GTG	PTPRU	-	NULL	ENSG00000060656		0.652	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRU	HGNC	protein_coding	OTTHUMT00000010447.1	-	0.00	46	0	G			29606613	+1	tier1	-	no_errors	ENST00000345512	ensembl	human	known	74_37	missense	35.71	27	15	SNP	1.000	A
RNF123	63891	genome.wustl.edu	37	3	49739576	49739576	+	Splice_Site	SNP	G	G	C			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr3:49739576G>C	ENST00000327697.6	+	18	1700	c.1556G>C	c.(1555-1557)gGg>gCg	p.G519A	RNF123_ENST00000432042.1_Splice_Site_p.G373A	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	519					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		GATGACAATGGGGTGAGTGAC	0.592																																																	0													63.0	63.0	63.0					3																	49739576		2203	4300	6503	SO:0001630	splice_region_variant	0			AK022627	CCDS33758.1	3p24.3	2008-02-05			ENSG00000164068	ENSG00000164068		"""RING-type (C3HC4) zinc fingers"""	21148	protein-coding gene	gene with protein product		614472					Standard	NM_022064		Approved	FLJ12565	uc003cxh.4	Q5XPI4	OTTHUMG00000156891	ENST00000327697.6:c.1557+1G>C	3.37:g.49739576G>C			A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Missense_Mutation	SNP	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,smart_Znf_RING,pfscan_B30.2/SPRY,pfscan_Znf_RING	p.G519A	ENST00000327697.6	37	c.1556	CCDS33758.1	3	.	.	.	.	.	.	.	.	.	.	G	12.05	1.822390	0.32237	.	.	ENSG00000164068	ENST00000327697;ENST00000389066;ENST00000432042	T;T	0.74737	-0.57;-0.87	5.06	5.06	0.68205	.	0.000000	0.64402	D	0.000003	T	0.54806	0.1881	N	0.08118	0	0.44825	D	0.99783	B;P	0.42908	0.03;0.793	B;B	0.41202	0.014;0.35	T	0.59236	-0.7492	10	0.05959	T	0.93	-34.9528	17.4143	0.87495	0.0:0.0:1.0:0.0	.	373;519	C9J266;Q5XPI4	.;RN123_HUMAN	A	519;519;373	ENSP00000328287:G519A;ENSP00000392443:G373A	ENSP00000328287:G519A	G	+	2	0	RNF123	49714580	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	3.003000	0.49505	2.371000	0.80710	0.561000	0.74099	GGG	RNF123	-	NULL	ENSG00000164068		0.592	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF123	HGNC	protein_coding	OTTHUMT00000346475.2	-	0.00	53	0	G	NM_022064	Missense_Mutation	49739576	+1	tier1	-	no_errors	ENST00000327697	ensembl	human	known	74_37	missense	56.25	7	9	SNP	1.000	C
SBNO2	22904	genome.wustl.edu	37	19	1120003	1120003	+	Missense_Mutation	SNP	T	T	G			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr19:1120003T>G	ENST00000361757.3	-	12	1406	c.1169A>C	c.(1168-1170)cAc>cCc	p.H390P	SBNO2_ENST00000587024.1_Missense_Mutation_p.H390P|SBNO2_ENST00000438103.2_Missense_Mutation_p.H333P	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	390					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)		CTTGGCTTTGTGACACTCGTC	0.617																																																	0													51.0	53.0	52.0					19																	1120003		1981	4014	5995	SO:0001583	missense	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.1169A>C	19.37:g.1120003T>G	ENSP00000354733:p.His390Pro		A8K8P2|B3KWJ1|O75257|Q3KQX0|Q8TEM0	Missense_Mutation	SNP	superfamily_P-loop_NTPase	p.H390P	ENST00000361757.3	37	c.1169	CCDS45894.1	19	.	.	.	.	.	.	.	.	.	.	T	8.418	0.845782	0.16963	.	.	ENSG00000064932	ENST00000361757;ENST00000438103;ENST00000250872	D;D	0.98313	-4.86;-4.86	3.91	2.89	0.33648	.	0.000000	0.85682	D	0.000000	D	0.97579	0.9207	M	0.84511	2.7	0.58432	D	0.999996	B;B;B;B	0.30526	0.034;0.283;0.019;0.027	B;B;B;B	0.37346	0.034;0.247;0.023;0.02	D	0.96353	0.9260	10	0.87932	D	0	-50.3606	8.4932	0.33112	0.0:0.0972:0.0:0.9028	.	333;390;390;333	B4DL53;B4DV91;Q9Y2G9;Q9Y2G9-3	.;.;SBNO2_HUMAN;.	P	390;333;414	ENSP00000354733:H390P;ENSP00000400762:H333P	ENSP00000250872:H414P	H	-	2	0	SBNO2	1071003	1.000000	0.71417	1.000000	0.80357	0.056000	0.15407	7.738000	0.84966	0.644000	0.30656	-0.421000	0.06004	CAC	SBNO2	-	superfamily_P-loop_NTPase	ENSG00000064932		0.617	SBNO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SBNO2	HGNC	protein_coding	OTTHUMT00000458065.2	-	0.00	35	0	T	NM_014963		1120003	-1	tier1	-	no_errors	ENST00000361757	ensembl	human	known	74_37	missense	28.21	28	11	SNP	1.000	G
SH3BGRL2	83699	genome.wustl.edu	37	6	80383498	80383498	+	Silent	SNP	T	T	C			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr6:80383498T>C	ENST00000369838.4	+	2	392	c.213T>C	c.(211-213)aaT>aaC	p.N71N		NM_031469.2	NP_113657.1	Q9UJC5	SH3L2_HUMAN	SH3 domain binding glutamate-rich protein like 2	71						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				large_intestine(2)|lung(3)	5		all_cancers(76;0.00188)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.174)		BRCA - Breast invasive adenocarcinoma(397;0.0278)		AGATATTTAATGGCGACCGAT	0.463																																																	0													118.0	125.0	123.0					6																	80383498		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ297972	CCDS4991.1	6q14.1	2014-02-19	2014-02-19		ENSG00000198478	ENSG00000198478			15567	protein-coding gene	gene with protein product		615678	"""SH3 domain binding glutamic acid-rich protein like 2"""			12095696	Standard	NM_031469		Approved		uc003piz.1	Q9UJC5	OTTHUMG00000015081	ENST00000369838.4:c.213T>C	6.37:g.80383498T>C			A8MQU2|Q2VPC2|Q5VV96|Q6NSK8|Q6P9E8|Q7Z734|Q8IWD3|Q9BPY5	Silent	SNP	pfam_Glut_rich_SH3-bd,pfam_Glutaredoxin,superfamily_Thioredoxin-like_fold	p.N71	ENST00000369838.4	37	c.213	CCDS4991.1	6																																																																																			SH3BGRL2	-	pfam_Glut_rich_SH3-bd,pfam_Glutaredoxin,superfamily_Thioredoxin-like_fold	ENSG00000198478		0.463	SH3BGRL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3BGRL2	HGNC	protein_coding	OTTHUMT00000041309.1	-	0.00	14	0	T			80383498	+1	tier1	-	no_errors	ENST00000369838	ensembl	human	known	74_37	silent	80.00	2	8	SNP	0.999	C
SI	6476	genome.wustl.edu	37	3	164727159	164727159	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr3:164727159G>T	ENST00000264382.3	-	35	4149	c.4087C>A	c.(4087-4089)Cca>Aca	p.P1363T		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1363	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	AAGAAATCTGGGAAAGCTACA	0.373										HNSCC(35;0.089)																																							0													72.0	75.0	74.0					3																	164727159		2203	4300	6503	SO:0001583	missense	0			X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.4087C>A	3.37:g.164727159G>T	ENSP00000264382:p.Pro1363Thr		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil	p.P1363T	ENST00000264382.3	37	c.4087	CCDS3196.1	3	.	.	.	.	.	.	.	.	.	.	G	17.56	3.419761	0.62622	.	.	ENSG00000090402	ENST00000264382	D	0.93247	-3.19	4.51	4.51	0.55191	Glycoside hydrolase, superfamily (1);	0.123684	0.56097	D	0.000035	D	0.97359	0.9136	M	0.91249	3.19	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	D	0.98446	1.0589	10	0.87932	D	0	.	17.3927	0.87436	0.0:0.0:1.0:0.0	.	1363	P14410	SUIS_HUMAN	T	1363	ENSP00000264382:P1363T	ENSP00000264382:P1363T	P	-	1	0	SI	166209853	1.000000	0.71417	1.000000	0.80357	0.459000	0.32528	8.923000	0.92808	2.335000	0.79485	0.491000	0.48974	CCA	SI	-	pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF	ENSG00000090402		0.373	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SI	HGNC	protein_coding	OTTHUMT00000350116.1	-	0.00	51	0	G	NM_001041		164727159	-1	tier1	-	no_errors	ENST00000264382	ensembl	human	known	74_37	missense	19.67	49	12	SNP	1.000	T
SLC12A1	6557	genome.wustl.edu	37	15	48500102	48500102	+	Missense_Mutation	SNP	T	T	G			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr15:48500102T>G	ENST00000558405.1	+	1	200	c.186T>G	c.(184-186)ttT>ttG	p.F62L	SLC12A1_ENST00000396577.3_Missense_Mutation_p.F62L|SLC12A1_ENST00000561031.1_Missense_Mutation_p.F62L|SLC12A1_ENST00000380993.3_Missense_Mutation_p.F62L|SLC12A1_ENST00000330289.6_Missense_Mutation_p.F62L			Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	62					cell death (GO:0008219)|chemical homeostasis (GO:0048878)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|kidney development (GO:0001822)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:potassium:chloride symporter activity (GO:0008511)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Potassium Chloride(DB00761)|Quinethazone(DB01325)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	GAATCAGCTTTAGGCCTGGGA	0.438																																																	0													90.0	88.0	89.0					15																	48500102		2198	4297	6495	SO:0001583	missense	0				CCDS10129.2, CCDS53940.1	15q15-q21	2013-07-18	2013-07-18		ENSG00000074803	ENSG00000074803		"""Solute carriers"""	10910	protein-coding gene	gene with protein product		600839				8640224	Standard	NM_000338		Approved	NKCC2	uc010bem.3	Q13621	OTTHUMG00000131495	ENST00000558405.1:c.186T>G	15.37:g.48500102T>G	ENSP00000453409:p.Phe62Leu		A8JYA2|E9PDW4	Missense_Mutation	SNP	pfam_AA-permease/SLC12A_dom,pfam_AA_permease_N,prints_Na/K/Cl_cotranspt2,prints_Na/K/Cl_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.F62L	ENST00000558405.1	37	c.186	CCDS10129.2	15	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.47|14.47	2.545255|2.545255	0.45280|0.45280	.|.	.|.	ENSG00000074803|ENSG00000074803	ENST00000380993;ENST00000396577;ENST00000330289|ENST00000546071	D;D;D|.	0.91068|.	-1.87;-1.87;-2.78|.	5.05|5.05	2.69|2.69	0.31865|0.31865	.|.	0.089181|.	0.48767|.	D|.	0.000165|.	T|.	0.16300|.	0.0392|.	N|N	0.08118|0.08118	0|0	0.30918|0.30918	N|N	0.728307|0.728307	B;B|.	0.26602|.	0.154;0.001|.	B;B|.	0.23419|.	0.046;0.004|.	T|.	0.29731|.	-1.0002|.	10|.	0.49607|0.02654	T|T	0.09|1	.|.	6.2171|6.2171	0.20661|0.20661	0.0:0.3828:0.0:0.6172|0.0:0.3828:0.0:0.6172	.|.	62;62|.	Q8IUN5;Q13621|.	.;S12A1_HUMAN|.	L|X	62|36	ENSP00000370381:F62L;ENSP00000379822:F62L;ENSP00000331550:F62L|.	ENSP00000331550:F62L|ENSP00000441148:L36X	F|L	+|+	3|2	2|0	SLC12A1|SLC12A1	46287394|46287394	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	0.579000|0.579000	0.23788|0.23788	0.943000|0.943000	0.37553|0.37553	0.533000|0.533000	0.62120|0.62120	TTT|TTA	SLC12A1	-	prints_Na/K/Cl_cotranspt2	ENSG00000074803		0.438	SLC12A1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC12A1	HGNC	protein_coding	OTTHUMT00000417131.1	-	0.00	24	0	T			48500102	+1	tier1	-	no_errors	ENST00000380993	ensembl	human	known	74_37	missense	67.65	11	23	SNP	1.000	G
SLC23A2	9962	genome.wustl.edu	37	20	4848460	4848460	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr20:4848460A>G	ENST00000379333.1	-	13	1704	c.1312T>C	c.(1312-1314)Tct>Cct	p.S438P	SLC23A2_ENST00000468355.1_5'Flank|SLC23A2_ENST00000424750.2_Missense_Mutation_p.S324P|SLC23A2_ENST00000338244.1_Missense_Mutation_p.S438P|SNORA31_ENST00000516287.1_RNA	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 2	438					L-ascorbic acid metabolic process (GO:0019852)|L-ascorbic acid transport (GO:0015882)|molecular hydrogen transport (GO:0015993)|nucleobase transport (GO:0015851)|nucleobase-containing compound metabolic process (GO:0006139)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|transepithelial L-ascorbic acid transport (GO:0070904)|vitamin metabolic process (GO:0006766)|vitamin transmembrane transport (GO:0035461)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-ascorbate:sodium symporter activity (GO:0008520)|L-ascorbic acid transporter activity (GO:0015229)|nucleobase transmembrane transporter activity (GO:0015205)|sodium-dependent L-ascorbate transmembrane transporter activity (GO:0070890)|sodium-dependent multivitamin transmembrane transporter activity (GO:0008523)			endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GATGAAGTAGAGCCATTCCCA	0.383																																																	0													106.0	101.0	103.0					20																	4848460		2203	4300	6503	SO:0001583	missense	0			AF058319	CCDS13085.1	20p13	2013-07-18	2013-07-18	2003-03-21	ENSG00000089057	ENSG00000089057		"""Solute carriers"""	10973	protein-coding gene	gene with protein product		603791	"""solute carrier family 23 (nucleobase transporters), member 1"""	SLC23A1		9804989, 10331392	Standard	NM_005116		Approved	SVCT2, KIAA0238, YSPL2	uc002wlh.1	Q9UGH3	OTTHUMG00000031793	ENST00000379333.1:c.1312T>C	20.37:g.4848460A>G	ENSP00000368637:p.Ser438Pro		B4DJZ1|Q8WWR4|Q92512|Q96D54|Q9UNU1|Q9UP85	Missense_Mutation	SNP	pfam_Xant/urac/vitC	p.S438P	ENST00000379333.1	37	c.1312	CCDS13085.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	25.8|25.8	4.672155|4.672155	0.88348|0.88348	.|.	.|.	ENSG00000089057|ENSG00000089057	ENST00000423430|ENST00000379333;ENST00000338244;ENST00000424750	.|T;T;T	.|0.16743	.|2.32;2.32;2.32	5.5|5.5	5.5|5.5	0.81552|0.81552	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.42698|0.42698	0.1214|0.1214	M|M	0.73598|0.73598	2.24|2.24	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|0.997;1.0	.|D;D	.|0.81914	.|0.995;0.993	T|T	0.38329|0.38329	-0.9666|-0.9666	5|10	.|0.87932	.|D	.|0	-22.3481|-22.3481	14.7215|14.7215	0.69311|0.69311	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|324;438	.|B4DJZ1;Q9UGH3	.|.;S23A2_HUMAN	P|P	194|438;438;324	.|ENSP00000368637:S438P;ENSP00000344322:S438P;ENSP00000406601:S324P	.|ENSP00000344322:S438P	L|S	-|-	2|1	0|0	SLC23A2|SLC23A2	4796460|4796460	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	8.825000|8.825000	0.92029|0.92029	2.223000|2.223000	0.72356|0.72356	0.477000|0.477000	0.44152|0.44152	CTC|TCT	SLC23A2	-	pfam_Xant/urac/vitC	ENSG00000089057		0.383	SLC23A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC23A2	HGNC	protein_coding	OTTHUMT00000077832.1		0.00	22	0	A			4848460	-1			no_errors	ENST00000338244	ensembl	human	known	74_37	missense	11.43	31	4	SNP	1.000	G
SLC36A2	153201	genome.wustl.edu	37	5	150704916	150704916	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr5:150704916G>A	ENST00000335244.4	-	8	1070	c.941C>T	c.(940-942)gCg>gTg	p.A314V	SLC36A2_ENST00000450886.1_Missense_Mutation_p.A38V|SLC36A2_ENST00000521967.1_Missense_Mutation_p.A314V	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 2	314					amino acid transport (GO:0006865)|ion transport (GO:0006811)|proline transmembrane transport (GO:0035524)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)|hydrogen:amino acid symporter activity (GO:0005280)|L-alanine transmembrane transporter activity (GO:0015180)|L-proline transmembrane transporter activity (GO:0015193)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Cycloserine(DB00260)	GCCCAGAGCCGCCATGCCAAT	0.532																																																	0													89.0	75.0	80.0					5																	150704916		2203	4300	6503	SO:0001583	missense	0			AY162214	CCDS4315.1	5q33.1	2013-05-22			ENSG00000186335	ENSG00000186335		"""Solute carriers"""	18762	protein-coding gene	gene with protein product		608331				11959859	Standard	NM_181776		Approved	PAT2, tramdorin, TRAMD1	uc003lty.3	Q495M3	OTTHUMG00000130129	ENST00000335244.4:c.941C>T	5.37:g.150704916G>A	ENSP00000334223:p.Ala314Val		Q495M4|Q495M6|Q6ZWK5|Q7Z6B5	Missense_Mutation	SNP	pfam_AA_transpt_TM	p.A314V	ENST00000335244.4	37	c.941	CCDS4315.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.50|12.50	1.955218|1.955218	0.34471|0.34471	.|.	.|.	ENSG00000186335|ENSG00000186335	ENST00000335244;ENST00000450886;ENST00000521967|ENST00000523044	T;T;T|.	0.03524|.	3.9;3.9;3.9|.	4.82|4.82	1.93|1.93	0.25924|0.25924	.|.	0.266898|.	0.41712|.	D|.	0.000838|.	T|T	0.55593|0.55593	0.1930|0.1930	M|M	0.62723|0.62723	1.935|1.935	0.23421|0.23421	N|N	0.997714|0.997714	P;P|.	0.50528|.	0.936;0.802|.	P;B|.	0.54499|.	0.754;0.382|.	T|T	0.51068|0.51068	-0.8752|-0.8752	10|5	0.87932|.	D|.	0|.	-5.8456|-5.8456	15.7582|15.7582	0.78054|0.78054	0.0:0.6081:0.3919:0.0|0.0:0.6081:0.3919:0.0	.|.	314;314|.	E5RJJ5;Q495M3|.	.;S36A2_HUMAN|.	V|W	314;38;314|67	ENSP00000334223:A314V;ENSP00000399479:A38V;ENSP00000430535:A314V|.	ENSP00000334223:A314V|.	A|R	-|-	2|1	0|2	SLC36A2|SLC36A2	150685109|150685109	0.530000|0.530000	0.26330|0.26330	0.003000|0.003000	0.11579|0.11579	0.035000|0.035000	0.12851|0.12851	2.346000|2.346000	0.44027|0.44027	0.283000|0.283000	0.22279|0.22279	-0.378000|-0.378000	0.06908|0.06908	GCG|CGG	SLC36A2	-	pfam_AA_transpt_TM	ENSG00000186335		0.532	SLC36A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC36A2	HGNC	protein_coding	OTTHUMT00000252437.1	-	0.00	57	0	G			150704916	-1	tier1	-	no_errors	ENST00000335244	ensembl	human	known	74_37	missense	38.30	29	18	SNP	0.945	A
SLC47A2	146802	genome.wustl.edu	37	17	19611088	19611088	+	Missense_Mutation	SNP	A	A	T			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr17:19611088A>T	ENST00000325411.5	-	8	856	c.806T>A	c.(805-807)cTg>cAg	p.L269Q	SLC47A2_ENST00000350657.5_Missense_Mutation_p.L233Q|SLC47A2_ENST00000463318.1_5'UTR	NM_152908.3	NP_690872.2	Q86VL8	S47A2_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 2	269					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antiporter activity (GO:0015297)|drug transmembrane transporter activity (GO:0015238)			endometrium(2)|kidney(3)|large_intestine(2)|lung(1)|ovary(1)	9	all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245)				Aciclovir(DB00787)	CAGCTTCTTCAGCACAATGTA	0.627																																																	0													94.0	81.0	85.0					17																	19611088		2203	4298	6501	SO:0001583	missense	0			AB250364	CCDS11211.1, CCDS58530.1	17p11.2	2013-07-17	2013-07-17		ENSG00000180638	ENSG00000180638		"""Solute carriers"""	26439	protein-coding gene	gene with protein product	"""multidrug and toxin extrusion 2"""	609833				16996621, 16807400	Standard	NM_152908		Approved	FLJ31196, MATE2, MATE2-K	uc002gwf.4	Q86VL8	OTTHUMG00000059464	ENST00000325411.5:c.806T>A	17.37:g.19611088A>T	ENSP00000326671:p.Leu269Gln		A0JBX9|A0P8Z7|Q63HJ9|Q8IV44|Q96NA1	Missense_Mutation	SNP	pfam_MATE,tigrfam_MATE	p.L269Q	ENST00000325411.5	37	c.806	CCDS11211.1	17	.	.	.	.	.	.	.	.	.	.	A	7.073	0.568601	0.13560	.	.	ENSG00000180638	ENST00000350657;ENST00000325411;ENST00000456947;ENST00000433844	T;T;T	0.48522	1.38;1.37;0.81	5.24	-1.34	0.09143	.	0.692555	0.14517	N	0.314709	T	0.26195	0.0639	L	0.32530	0.975	0.09310	N	1	B;B;B	0.26041	0.14;0.14;0.026	B;B;B	0.23852	0.034;0.049;0.022	T	0.12426	-1.0548	10	0.28530	T	0.3	-5.1327	0.3853	0.00401	0.3321:0.2664:0.1561:0.2454	.	233;233;269	Q86VL8-3;Q86VL8-4;Q86VL8	.;.;S47A2_HUMAN	Q	233;269;184;233	ENSP00000338084:L233Q;ENSP00000326671:L269Q;ENSP00000391848:L233Q	ENSP00000326671:L269Q	L	-	2	0	SLC47A2	19551680	0.001000	0.12720	0.000000	0.03702	0.105000	0.19272	0.110000	0.15437	-0.256000	0.09473	0.460000	0.39030	CTG	SLC47A2	-	tigrfam_MATE	ENSG00000180638		0.627	SLC47A2-002	KNOWN	basic|CCDS	protein_coding	SLC47A2	HGNC	protein_coding	OTTHUMT00000132242.2	-	0.00	28	0	A	NM_152908		19611088	-1	tier1	-	no_errors	ENST00000325411	ensembl	human	known	74_37	missense	51.72	14	15	SNP	0.001	T
SLC9B1	150159	genome.wustl.edu	37	4	103867843	103867843	+	Silent	SNP	G	G	T			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr4:103867843G>T	ENST00000296422.7	-	5	627	c.486C>A	c.(484-486)acC>acA	p.T162T	SLC9B1_ENST00000394789.3_Silent_p.T162T	NM_139173.3	NP_631912	Q4ZJI4	SL9B1_HUMAN	solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1	162					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)										TTAGAATAATGGTAAGGGCAA	0.373																																																	0													72.0	72.0	72.0					4																	103867843		2203	4300	6503	SO:0001819	synonymous_variant	0			AF447585	CCDS34041.1, CCDS47119.1	4q24	2013-05-22	2012-03-22	2011-07-26	ENSG00000164037	ENSG00000164037		"""Solute carriers"""	24244	protein-coding gene	gene with protein product		611527	"""Na+/H+ exchanger domain containing 1"", ""solute carrier family 9, subfamily B (cation proton antiporter 2), member 1"""	NHEDC1		16850186	Standard	NM_139173		Approved	NHA1	uc003hww.3	Q4ZJI4	OTTHUMG00000161114	ENST00000296422.7:c.486C>A	4.37:g.103867843G>T			A1KXV1|B9EH04|C9JBP7|Q49A30|Q8NCV2|Q8WVZ0	Silent	SNP	pfam_Cation/H_exchanger	p.T162	ENST00000296422.7	37	c.486	CCDS34041.1	4																																																																																			SLC9B1	-	pfam_Cation/H_exchanger	ENSG00000164037		0.373	SLC9B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9B1	HGNC	protein_coding	OTTHUMT00000363841.1	-	0.00	92	0	G	NM_139173		103867843	-1	tier1	-	no_errors	ENST00000296422	ensembl	human	known	74_37	silent	5.00	76	4	SNP	0.954	T
SMPDL3A	10924	genome.wustl.edu	37	6	123110453	123110453	+	5'UTR	SNP	G	G	A			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr6:123110453G>A	ENST00000368440.4	+	0	139				SMPDL3A_ENST00000487215.1_3'UTR|SMPDL3A_ENST00000539041.1_5'Flank	NM_006714.3	NP_006705.1	Q92484	ASM3A_HUMAN	sphingomyelin phosphodiesterase, acid-like 3A						sphingomyelin catabolic process (GO:0006685)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hydrolase activity, acting on glycosyl bonds (GO:0016798)|sphingomyelin phosphodiesterase activity (GO:0004767)			breast(1)|cervix(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	10				GBM - Glioblastoma multiforme(226;0.236)		GTGGAGCTGCGGGACAGCCCG	0.682																																																	0													4.0	5.0	5.0					6																	123110453		1566	2899	4465	SO:0001623	5_prime_UTR_variant	0			AK000184	CCDS5128.1, CCDS69190.1	6q22.32	2006-04-12			ENSG00000172594	ENSG00000172594			17389	protein-coding gene	gene with protein product	"""acid sphingomyelinase-like phosphodiesterase 3a"""	610728				12442002	Standard	XM_005266798		Approved	FLJ20177, ASM3A, ASML3a, yR36GH4.1	uc003pzg.3	Q92484	OTTHUMG00000015490	ENST00000368440.4:c.-39G>A	6.37:g.123110453G>A			B7Z729|Q8WV13	RNA	SNP	-	NULL	ENST00000368440.4	37	NULL	CCDS5128.1	6																																																																																			SMPDL3A	-	-	ENSG00000172594		0.682	SMPDL3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMPDL3A	HGNC	protein_coding	OTTHUMT00000042039.1	-	0.00	10	0	G	NM_006714		123110453	+1	tier1	-	no_errors	ENST00000487215	ensembl	human	known	74_37	rna	83.33	1	5	SNP	0.000	A
SPATA17	128153	genome.wustl.edu	37	1	217947781	217947781	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr1:217947781A>G	ENST00000366933.4	+	7	680	c.625A>G	c.(625-627)Aag>Gag	p.K209E		NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	209						cytoplasm (GO:0005737)				endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		AGTTAAGCAGAAGGACTCCAC	0.443																																																	0													104.0	97.0	100.0					1																	217947781		2203	4300	6503	SO:0001583	missense	0			AK098591	CCDS1519.1	1q41	2008-02-05			ENSG00000162814	ENSG00000162814			25184	protein-coding gene	gene with protein product	"""IQ motif containing H"""	611032				16395525	Standard	NM_138796		Approved	IQCH	uc001hlh.1	Q96L03	OTTHUMG00000037875	ENST00000366933.4:c.625A>G	1.37:g.217947781A>G	ENSP00000355900:p.Lys209Glu		A5D6N2	Missense_Mutation	SNP	pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS	p.K209E	ENST00000366933.4	37	c.625	CCDS1519.1	1	.	.	.	.	.	.	.	.	.	.	A	8.600	0.886687	0.17540	.	.	ENSG00000162814	ENST00000366933	T	0.45276	0.9	5.45	-2.36	0.06663	.	0.981946	0.08351	N	0.959224	T	0.31888	0.0811	L	0.60455	1.87	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.37641	-0.9697	10	0.09084	T	0.74	-7.5521	7.4693	0.27340	0.2786:0.3478:0.3736:0.0	.	209	Q96L03	SPT17_HUMAN	E	209	ENSP00000355900:K209E	ENSP00000355900:K209E	K	+	1	0	SPATA17	216014404	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.246000	0.08878	-0.363000	0.08101	-0.376000	0.06991	AAG	SPATA17	-	NULL	ENSG00000162814		0.443	SPATA17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA17	HGNC	protein_coding	OTTHUMT00000092433.2	-	0.00	44	0	A	NM_138796		217947781	+1	tier1	-	no_errors	ENST00000366933	ensembl	human	known	74_37	missense	31.91	32	15	SNP	0.000	G
SPHKAP	80309	genome.wustl.edu	37	2	228884710	228884710	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr2:228884710G>T	ENST00000392056.3	-	7	906	c.860C>A	c.(859-861)cCa>cAa	p.P287Q	SPHKAP_ENST00000344657.5_Missense_Mutation_p.P287Q	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	287						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TAGGTTTTCTGGAGATCGTTC	0.438																																																	0													246.0	258.0	254.0					2																	228884710		2203	4300	6503	SO:0001583	missense	0				CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.860C>A	2.37:g.228884710G>T	ENSP00000375909:p.Pro287Gln		Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	pfam_AKAP_110_C	p.P287Q	ENST00000392056.3	37	c.860	CCDS46537.1	2	.	.	.	.	.	.	.	.	.	.	G	0.031	-1.331401	0.01298	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.10960	2.82;2.82	5.6	0.206	0.15208	.	0.824400	0.10905	N	0.621202	T	0.04815	0.0130	N	0.22421	0.69	0.09310	N	1	P;P	0.35714	0.454;0.517	B;B	0.27380	0.057;0.079	T	0.36359	-0.9751	10	0.29301	T	0.29	.	1.6641	0.02798	0.5838:0.1358:0.1414:0.139	.	287;287	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	Q	287	ENSP00000375909:P287Q;ENSP00000339886:P287Q	ENSP00000339886:P287Q	P	-	2	0	SPHKAP	228592954	0.008000	0.16893	0.001000	0.08648	0.003000	0.03518	0.483000	0.22292	-0.193000	0.10415	-0.781000	0.03364	CCA	SPHKAP	-	NULL	ENSG00000153820		0.438	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPHKAP	HGNC	protein_coding	OTTHUMT00000331750.1	-	0.00	81	0	G	NM_030623		228884710	-1	tier1	-	no_errors	ENST00000392056	ensembl	human	known	74_37	missense	6.45	58	4	SNP	0.000	T
SSBP1	6742	genome.wustl.edu	37	7	141443477	141443477	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr7:141443477G>A	ENST00000481508.1	+	4	637	c.202G>A	c.(202-204)Ggg>Agg	p.G68R	SSBP1_ENST00000265304.6_Missense_Mutation_p.G68R|SSBP1_ENST00000484178.1_Missense_Mutation_p.G68R|SSBP1_ENST00000469123.1_3'UTR|SSBP1_ENST00000498107.1_Missense_Mutation_p.G68R|SSBP1_ENST00000465582.1_Missense_Mutation_p.G68R	NM_001256510.1	NP_001243439.1	Q04837	SSBP_HUMAN	single-stranded DNA binding protein 1, mitochondrial	68	SSB.				DNA replication (GO:0006260)|mitochondrion morphogenesis (GO:0070584)|positive regulation of helicase activity (GO:0051096)	extracellular vesicular exosome (GO:0070062)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)|single-stranded DNA binding (GO:0003697)			large_intestine(3)|lung(1)|ovary(1)|pancreas(1)|skin(1)	7	Melanoma(164;0.0171)					GTGGCGATCAGGGGATAGTGA	0.388																																																	0													112.0	113.0	113.0					7																	141443477		2203	4300	6503	SO:0001583	missense	0			M94556	CCDS5866.1	7q34	2012-05-25	2012-05-25		ENSG00000106028	ENSG00000106028			11317	protein-coding gene	gene with protein product		600439	"""single-stranded DNA-binding protein"", ""single-stranded DNA binding protein 1"""			7789991	Standard	NM_001256510		Approved	SSBP, mtSSB	uc031szi.1	Q04837	OTTHUMG00000157572	ENST00000481508.1:c.202G>A	7.37:g.141443477G>A	ENSP00000419665:p.Gly68Arg			Missense_Mutation	SNP	pfam_Primosome_PriB/ssb,superfamily_NA-bd_OB-fold,pfscan_Primosome_PriB/ssb,tigrfam_ssDNA-bd	p.G68R	ENST00000481508.1	37	c.202	CCDS5866.1	7	.	.	.	.	.	.	.	.	.	.	G	21.5	4.158243	0.78114	.	.	ENSG00000106028	ENST00000265304;ENST00000498107;ENST00000467681;ENST00000465582;ENST00000463093;ENST00000484178;ENST00000481508	.	.	.	5.51	5.51	0.81932	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.000000	0.85682	D	0.000000	T	0.43411	0.1246	N	0.05619	-0.005	0.80722	D	1	P;P	0.48230	0.907;0.535	P;B	0.48654	0.585;0.367	T	0.39375	-0.9617	9	0.27082	T	0.32	-13.2466	19.4184	0.94710	0.0:0.0:1.0:0.0	.	68;68	B7Z268;Q04837	.;SSBP_HUMAN	R	68	.	ENSP00000265304:G68R	G	+	1	0	SSBP1	141089946	1.000000	0.71417	0.984000	0.44739	0.916000	0.54674	8.653000	0.91088	2.590000	0.87494	0.561000	0.74099	GGG	SSBP1	-	pfam_Primosome_PriB/ssb,superfamily_NA-bd_OB-fold,pfscan_Primosome_PriB/ssb,tigrfam_ssDNA-bd	ENSG00000106028		0.388	SSBP1-006	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	SSBP1	HGNC	protein_coding	OTTHUMT00000349187.1	-	0.00	54	0	G	NM_003143		141443477	+1	tier1	-	no_errors	ENST00000265304	ensembl	human	known	74_37	missense	9.09	40	4	SNP	1.000	A
SULT1A2	6799	genome.wustl.edu	37	16	28603714	28603714	+	Silent	SNP	C	C	T			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr16:28603714C>T	ENST00000395630.1	-	7	995	c.645G>A	c.(643-645)ctG>ctA	p.L215L	SULT1A2_ENST00000335715.4_Silent_p.L215L|SULT1A2_ENST00000533150.1_Silent_p.L182L	NM_177528.2	NP_803564	P50226	ST1A2_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 2	215					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|amine biosynthetic process (GO:0009309)|catecholamine metabolic process (GO:0006584)|phenol-containing compound metabolic process (GO:0018958)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	aryl sulfotransferase activity (GO:0004062)|flavonol 3-sulfotransferase activity (GO:0047894)|sulfotransferase activity (GO:0008146)			NS(2)|breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|skin(2)	14						TCTCCTCTGGCAGGGAGCGCC	0.547																																																	0													141.0	126.0	131.0					16																	28603714		2197	4300	6497	SO:0001819	synonymous_variant	0			U34804	CCDS10636.1	16p12.1	2008-02-05			ENSG00000197165	ENSG00000197165	2.8.2.1	"""Sulfotransferases, cytosolic"""	11454	protein-coding gene	gene with protein product		601292		STP2		8661000, 8912648	Standard	NM_001054		Approved	HAST4	uc002dqh.2	P50226	OTTHUMG00000048082	ENST00000395630.1:c.645G>A	16.37:g.28603714C>T			A9QY25|P78393|Q14CJ7	Silent	SNP	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.L215	ENST00000395630.1	37	c.645	CCDS10636.1	16																																																																																			SULT1A2	-	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	ENSG00000197165		0.547	SULT1A2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SULT1A2	HGNC	protein_coding	OTTHUMT00000109415.2		0.00	126	0	C	NM_001054		28603714	-1			no_errors	ENST00000335715	ensembl	human	known	74_37	silent	7.84	94	8	SNP	1.000	T
TCHH	7062	genome.wustl.edu	37	1	152082500	152082500	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr1:152082500C>T	ENST00000368804.1	-	2	3192	c.3193G>A	c.(3193-3195)Gga>Aga	p.G1065R		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1065	10 X 30 AA tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			cgttcctctcccagcagctgc	0.597																																																	0													112.0	116.0	114.0					1																	152082500		1996	4145	6141	SO:0001583	missense	0			L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.3193G>A	1.37:g.152082500C>T	ENSP00000357794:p.Gly1065Arg		Q5VUI3	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom	p.G1065R	ENST00000368804.1	37	c.3193	CCDS41396.1	1	.	.	.	.	.	.	.	.	.	.	c	5.119	0.207577	0.09704	.	.	ENSG00000159450	ENST00000368804	T	0.04970	3.52	2.61	-5.21	0.02815	.	.	.	.	.	T	0.00440	0.0014	N	0.01168	-0.975	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46775	-0.9167	9	0.16420	T	0.52	.	2.3202	0.04208	0.1335:0.3632:0.323:0.1803	.	1065	Q07283	TRHY_HUMAN	R	1065	ENSP00000357794:G1065R	ENSP00000357794:G1065R	G	-	1	0	TCHH	150349124	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-3.615000	0.00414	-1.405000	0.02048	-0.619000	0.04042	GGA	TCHH	-	NULL	ENSG00000159450		0.597	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCHH	HGNC	protein_coding	OTTHUMT00000036671.2	-	0.00	106	0	C	NM_007113		152082500	-1	tier1	-	no_errors	ENST00000368804	ensembl	human	known	74_37	missense	33.33	72	36	SNP	0.002	T
TDH	157739	genome.wustl.edu	37	8	11219212	11219212	+	RNA	SNP	G	G	A			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr8:11219212G>A	ENST00000534302.1	+	0	541									L-threonine dehydrogenase (pseudogene)																		CACGATTGGGGCTTTTGGACC	0.532																																																	0																																												0			AJ301562		8p23.1	2013-09-26	2013-09-26		ENSG00000154316	ENSG00000154316		"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	15547	pseudogene	pseudogene	"""short chain dehydrogenase/reductase family 14E, member 1 (pseudogene)"""	615174	"""L-threonine dehydrogenase"""			11896452, 12361482, 19027726	Standard	NR_001578		Approved	FLJ25033, SDR14E1P	uc003wtq.1	Q8IZJ6	OTTHUMG00000165365		8.37:g.11219212G>A				RNA	SNP	-	NULL	ENST00000534302.1	37	NULL		8																																																																																			TDH	-	-	ENSG00000154316		0.532	TDH-002	KNOWN	basic	processed_transcript	TDH	HGNC	pseudogene	OTTHUMT00000385807.1	-	0.00	56	0	G	NM_152566		11219212	+1	tier1	-	no_errors	ENST00000525246	ensembl	human	known	74_37	rna	64.71	18	33	SNP	1.000	A
TLL1	7092	genome.wustl.edu	37	4	166910623	166910623	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr4:166910623G>T	ENST00000061240.2	+	2	907	c.260G>T	c.(259-261)gGa>gTa	p.G87V	TLL1_ENST00000507499.1_Missense_Mutation_p.G87V|TLL1_ENST00000513213.1_Missense_Mutation_p.G87V	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	87					cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.G87E(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		AACCCCTTTGGAAACCTTGGA	0.333																																																	1	Substitution - Missense(1)	kidney(1)											111.0	116.0	114.0					4																	166910623		2203	4300	6503	SO:0001583	missense	0			AF282732	CCDS3811.1, CCDS56342.1	4q32-q33	2008-07-29			ENSG00000038295	ENSG00000038295			11843	protein-coding gene	gene with protein product		606742				10516436	Standard	NM_012464		Approved		uc003irh.2	O43897	OTTHUMG00000161112	ENST00000061240.2:c.260G>T	4.37:g.166910623G>T	ENSP00000061240:p.Gly87Val		B2RMU2|Q96AN3|Q9NQS4	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,smart_Peptidase_Metallo,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_BMP_1/tolloid-like,pfscan_CUB_dom,pfscan_EG-like_dom,prints_Peptidase_M12A	p.G87V	ENST00000061240.2	37	c.260	CCDS3811.1	4	.	.	.	.	.	.	.	.	.	.	G	13.89	2.372470	0.42003	.	.	ENSG00000038295	ENST00000061240;ENST00000507499;ENST00000513213	T;T;T	0.57752	0.52;0.44;0.38	5.6	4.64	0.57946	.	0.390743	0.26010	U	0.026885	T	0.39759	0.1090	L	0.46157	1.445	0.58432	D	0.999994	B;B	0.24258	0.1;0.1	B;B	0.24541	0.054;0.024	T	0.39643	-0.9604	10	0.33940	T	0.23	.	3.677	0.08295	0.3471:0.0:0.6529:0.0	.	87;87	E9PD25;O43897	.;TLL1_HUMAN	V	87	ENSP00000061240:G87V;ENSP00000426082:G87V;ENSP00000422937:G87V	ENSP00000061240:G87V	G	+	2	0	TLL1	167130073	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	4.406000	0.59748	2.634000	0.89283	0.655000	0.94253	GGA	TLL1	-	pirsf_BMP_1/tolloid-like	ENSG00000038295		0.333	TLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLL1	HGNC	protein_coding	OTTHUMT00000363821.1		0.00	58	0	G			166910623	+1			no_errors	ENST00000061240	ensembl	human	known	74_37	missense	9.09	20	2	SNP	1.000	T
TOP3B	8940	genome.wustl.edu	37	22	22316801	22316801	+	Splice_Site	SNP	C	C	T			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr22:22316801C>T	ENST00000398793.2	-	13	1959	c.1525G>A	c.(1525-1527)Ggc>Agc	p.G509S	TOP3B_ENST00000357179.5_Splice_Site_p.G509S|TOP3B_ENST00000413067.2_Missense_Mutation_p.G238S	NM_003935.3	NP_003926.1	O95985	TOP3B_HUMAN	topoisomerase (DNA) III beta	509					chromosome segregation (GO:0007059)|DNA topological change (GO:0006265)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA topoisomerase activity (GO:0003916)|DNA topoisomerase type I activity (GO:0003917)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		GCGCACCCACCGATGCCATGC	0.647																																																	0													83.0	79.0	80.0					22																	22316801		2203	4300	6503	SO:0001630	splice_region_variant	0			AF017146	CCDS13797.1	22q11.22	2011-05-24			ENSG00000100038	ENSG00000100038			11993	protein-coding gene	gene with protein product		603582				9786842, 9074928	Standard	XM_005261811		Approved		uc002zvs.3	O95985	OTTHUMG00000167438	ENST00000398793.2:c.1525+1G>A	22.37:g.22316801C>T			A0M8Q3|Q9BUP5	Missense_Mutation	SNP	pfam_Topo_IA_cen,pfam_Toprim_domain,superfamily_Topo_IA_core_domain,smart_Toprim_domain,smart_Topo_IA_2,smart_Topo_IA_DNA-bd,prints_Topo_IA	p.G509S	ENST00000398793.2	37	c.1525	CCDS13797.1	22	.	.	.	.	.	.	.	.	.	.	C	36	5.767423	0.96914	.	.	ENSG00000100038	ENST00000357179;ENST00000398793;ENST00000413067	T;T;T	0.78816	-1.21;-1.21;-1.21	5.12	5.12	0.69794	DNA topoisomerase, type IA, core domain (1);DNA topoisomerase, type IA, central (1);DNA topoisomerase, type IA, DNA-binding (1);DNA topoisomerase, type IA, central region, subdomain 1 (1);	0.000000	0.85682	D	0.000000	D	0.93416	0.7900	H	0.98721	4.31	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.96248	0.9181	10	0.87932	D	0	.	18.5601	0.91097	0.0:1.0:0.0:0.0	.	54;509;509	B3KU89;O95985;O95985-2	.;TOP3B_HUMAN;.	S	509;509;238	ENSP00000349705:G509S;ENSP00000381773:G509S;ENSP00000393118:G238S	ENSP00000349705:G509S	G	-	1	0	TOP3B	20646801	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.446000	0.80609	2.368000	0.80403	0.563000	0.77884	GGC;GGC;GGT	TOP3B	-	pfam_Topo_IA_cen,superfamily_Topo_IA_core_domain,smart_Topo_IA_DNA-bd,prints_Topo_IA	ENSG00000100038		0.647	TOP3B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TOP3B	HGNC	protein_coding	OTTHUMT00000320251.1	-	0.00	71	0	C	NM_003935	Missense_Mutation	22316801	-1	tier1	-	no_errors	ENST00000357179	ensembl	human	known	74_37	missense	9.09	60	6	SNP	1.000	T
TP53	7157	genome.wustl.edu	37	17	7577498	7577498	+	Splice_Site	SNP	C	C	T			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr17:7577498C>T	ENST00000269305.4	-	7	972		c.e7+1		TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000420246.2_Splice_Site	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53						apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.?(29)|p.0?(8)|p.E258fs*71(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TGGCTCCTGACCTGGAGTCTT	0.572		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	38	Unknown(29)|Whole gene deletion(8)|Deletion - Frameshift(1)	breast(5)|ovary(5)|bone(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|upper_aerodigestive_tract(2)|stomach(2)|central_nervous_system(2)|large_intestine(2)|oesophagus(2)|peritoneum(1)|biliary_tract(1)|liver(1)|urinary_tract(1)|salivary_gland(1)|lung(1)|skin(1)|pancreas(1)											121.0	85.0	97.0					17																	7577498		2203	4300	6503	SO:0001630	splice_region_variant	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.782+1G>A	17.37:g.7577498C>T			Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Splice_Site	SNP	-	e6+1	ENST00000269305.4	37	c.782+1	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	12.61	1.989137	0.35131	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	.	.	.	4.31	4.31	0.51392	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.688	0.69062	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7518223	1.000000	0.71417	0.987000	0.45799	0.147000	0.21601	3.111000	0.50360	2.406000	0.81754	0.462000	0.41574	.	TP53	-	-	ENSG00000141510		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0.00	250	0	C	NM_000546	Intron	7577498	-1	tier1	-	no_errors	ENST00000269305	ensembl	human	known	74_37	splice_site	73.29	82	225	SNP	1.000	T
TPO	7173	genome.wustl.edu	37	2	1426896	1426896	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr2:1426896G>A	ENST00000345913.4	+	3	265	c.174G>A	c.(172-174)atG>atA	p.M58I	TPO_ENST00000329066.4_Missense_Mutation_p.M58I|TPO_ENST00000382269.3_Missense_Mutation_p.M58I|TPO_ENST00000539820.1_Missense_Mutation_p.M58I|TPO_ENST00000346956.3_Missense_Mutation_p.M58I|TPO_ENST00000497517.2_Intron|TPO_ENST00000349624.3_Missense_Mutation_p.M58I|TPO_ENST00000382201.3_Missense_Mutation_p.M58I|TPO_ENST00000382198.1_Missense_Mutation_p.M58I|TPO_ENST00000337415.3_Missense_Mutation_p.M58I	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	58					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	ACGCCACGATGCAGAGGTGAG	0.597																																																	0													69.0	60.0	63.0					2																	1426896		2203	4300	6503	SO:0001583	missense	0				CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.174G>A	2.37:g.1426896G>A	ENSP00000318820:p.Met58Ile		P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,pfam_EGF-like_Ca-bd_dom,superfamily_Haem_peroxidase,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr	p.M58I	ENST00000345913.4	37	c.174	CCDS1643.1	2	.	.	.	.	.	.	.	.	.	.	G	10.75	1.437747	0.25900	.	.	ENSG00000115705	ENST00000382269;ENST00000337415;ENST00000345913;ENST00000346956;ENST00000349624;ENST00000539820;ENST00000329066;ENST00000382201;ENST00000423320;ENST00000382198	T;T;T;T;T;T;T;T;T;T	0.56776	0.44;0.44;0.44;0.44;0.44;0.44;0.44;0.44;0.44;0.44	3.72	3.72	0.42706	.	0.282519	0.34652	N	0.003786	T	0.40909	0.1136	L	0.50919	1.6	0.09310	N	1	B;B;B;B;B	0.33807	0.008;0.426;0.264;0.008;0.006	B;B;B;B;B	0.25405	0.007;0.06;0.033;0.007;0.004	T	0.30563	-0.9974	10	0.29301	T	0.29	-29.3298	11.2868	0.49226	0.0:0.0:1.0:0.0	.	58;58;58;58;58	P07202-4;P07202-5;E9PFM6;P07202-2;P07202	.;.;.;.;PERT_HUMAN	I	58	ENSP00000371704:M58I;ENSP00000337263:M58I;ENSP00000318820:M58I;ENSP00000263886:M58I;ENSP00000332044:M58I;ENSP00000444840:M58I;ENSP00000329869:M58I;ENSP00000371636:M58I;ENSP00000390994:M58I;ENSP00000371633:M58I	ENSP00000329869:M58I	M	+	3	0	TPO	1405903	0.251000	0.23961	0.039000	0.18376	0.038000	0.13279	1.497000	0.35649	2.347000	0.79759	0.467000	0.42956	ATG	TPO	-	NULL	ENSG00000115705		0.597	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TPO	HGNC	protein_coding	OTTHUMT00000206594.2		0.00	33	0	G	NM_000547		1426896	+1			no_errors	ENST00000329066	ensembl	human	known	74_37	missense	6.98	40	3	SNP	0.046	A
TPP2	7174	genome.wustl.edu	37	13	103330576	103330576	+	Splice_Site	SNP	G	G	A			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr13:103330576G>A	ENST00000376065.4	+	29	3696		c.e29-1		TPP2_ENST00000466153.1_Splice_Site|RP11-29B2.5_ENST00000602560.1_lincRNA|TPP2_ENST00000376052.3_Splice_Site	NM_003291.2	NP_003282.2	P29144	TPP2_HUMAN	tripeptidyl peptidase II						antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)|tripeptidyl-peptidase activity (GO:0008240)			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TTTTGTTGTAGCTGATGAAGT	0.318																																																	0													86.0	84.0	85.0					13																	103330576		2203	4300	6503	SO:0001630	splice_region_variant	0			M55169	CCDS9502.1	13q32-q33	2008-02-05			ENSG00000134900	ENSG00000134900	3.4.14.10		12016	protein-coding gene	gene with protein product		190470				1670990	Standard	NM_003291		Approved		uc001vpi.4	P29144	OTTHUMG00000017305	ENST00000376065.4:c.3661-1G>A	13.37:g.103330576G>A			Q5VZU8	Splice_Site	SNP	-	e29-1	ENST00000376065.4	37	c.3661-1	CCDS9502.1	13	.	.	.	.	.	.	.	.	.	.	G	19.61	3.860209	0.71834	.	.	ENSG00000134900	ENST00000376065;ENST00000376052	.	.	.	5.21	5.21	0.72293	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1014	0.93275	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TPP2	102128577	1.000000	0.71417	0.995000	0.50966	0.954000	0.61252	9.150000	0.94667	2.586000	0.87340	0.655000	0.94253	.	TPP2	-	-	ENSG00000134900		0.318	TPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPP2	HGNC	protein_coding	OTTHUMT00000045683.2		0.00	30	0	G		Intron	103330576	+1			no_errors	ENST00000376065	ensembl	human	known	74_37	splice_site	11.43	31	4	SNP	1.000	A
TSPAN8	7103	genome.wustl.edu	37	12	71526592	71526592	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr12:71526592C>T	ENST00000393330.2	-	10	1009	c.457G>A	c.(457-459)Ggt>Agt	p.G153S	TSPAN8_ENST00000546561.1_Missense_Mutation_p.G153S|TSPAN8_ENST00000247829.3_Missense_Mutation_p.G153S|TSPAN8_ENST00000552128.1_Missense_Mutation_p.G70S			P19075	TSN8_HUMAN	tetraspanin 8	153					negative regulation of blood coagulation (GO:0030195)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(7)|skin(3)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244)			TTGACCAAACCGCAGCATTTA	0.348																																																	0													122.0	113.0	116.0					12																	71526592		2203	4300	6503	SO:0001583	missense	0			M35252	CCDS8999.1	12q14.1-q21.1	2013-02-14	2005-03-21	2005-03-21		ENSG00000127324		"""Tetraspanins"""	11855	protein-coding gene	gene with protein product		600769	"""transmembrane 4 superfamily member 3"""	TM4SF3		2395876	Standard	NM_004616		Approved	CO-029	uc001swj.1	P19075		ENST00000393330.2:c.457G>A	12.37:g.71526592C>T	ENSP00000377003:p.Gly153Ser		B2R7T7|Q9BS78	Missense_Mutation	SNP	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin	p.G153S	ENST00000393330.2	37	c.457	CCDS8999.1	12	.	.	.	.	.	.	.	.	.	.	C	26.8	4.769430	0.90020	.	.	ENSG00000127324	ENST00000393330;ENST00000247829;ENST00000546561;ENST00000552128	D;D;D;D	0.99194	-5.54;-5.54;-5.54;-5.54	5.86	5.86	0.93980	Tetraspanin, EC2 domain (1);	0.000000	0.85682	D	0.000000	D	0.99612	0.9859	H	0.98068	4.14	0.58432	D	0.999991	D	0.89917	1.0	D	0.97110	1.0	D	0.97828	1.0261	10	0.87932	D	0	.	17.6797	0.88239	0.0:1.0:0.0:0.0	.	153	P19075	TSN8_HUMAN	S	153;153;153;70	ENSP00000377003:G153S;ENSP00000247829:G153S;ENSP00000447160:G153S;ENSP00000449820:G70S	ENSP00000247829:G153S	G	-	1	0	TSPAN8	69812859	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	3.346000	0.52190	2.777000	0.95525	0.591000	0.81541	GGT	TSPAN8	-	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2	ENSG00000127324		0.348	TSPAN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPAN8	HGNC	protein_coding	OTTHUMT00000404737.1	-	0.00	41	0	C	NM_004616		71526592	-1	tier1	-	no_errors	ENST00000247829	ensembl	human	known	74_37	missense	15.00	51	9	SNP	1.000	T
TTLL7	79739	genome.wustl.edu	37	1	84399407	84399407	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr1:84399407G>T	ENST00000260505.8	-	9	1308	c.931C>A	c.(931-933)Ctg>Atg	p.L311M	TTLL7_ENST00000477524.1_5'UTR	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	311	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|protein polyglutamylation (GO:0018095)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)			kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		TAGGCATGCAGGACATGAGGT	0.393																																																	0													126.0	123.0	124.0					1																	84399407		2203	4300	6503	SO:0001583	missense	0			AY170843	CCDS690.2	1p31.1	2013-02-14			ENSG00000137941	ENSG00000137941		"""Tubulin tyrosine ligase-like family"""	26242	protein-coding gene	gene with protein product						15890843	Standard	XM_005271208		Approved	FLJ23033	uc001djc.3	Q6ZT98	OTTHUMG00000009932	ENST00000260505.8:c.931C>A	1.37:g.84399407G>T	ENSP00000260505:p.Leu311Met		Q5TAX8|Q5TAX9|Q6P990|Q86YS1|Q9H5U4	Missense_Mutation	SNP	pfam_TTL/TTLL_fam	p.L311M	ENST00000260505.8	37	c.931	CCDS690.2	1	.	.	.	.	.	.	.	.	.	.	G	15.11	2.737468	0.49045	.	.	ENSG00000137941	ENST00000260505;ENST00000370704;ENST00000370703	T	0.04275	3.66	5.89	3.71	0.42584	.	0.135355	0.51477	D	0.000095	T	0.07188	0.0182	L	0.48260	1.515	0.41141	D	0.98595	D	0.61080	0.989	D	0.67900	0.954	T	0.16424	-1.0403	10	0.46703	T	0.11	.	11.2588	0.49069	0.2054:0.0:0.7946:0.0	.	311	Q6ZT98	TTLL7_HUMAN	M	311;88;311	ENSP00000260505:L311M	ENSP00000260505:L311M	L	-	1	2	TTLL7	84171995	1.000000	0.71417	1.000000	0.80357	0.372000	0.29890	5.396000	0.66297	1.404000	0.46819	-0.365000	0.07479	CTG	TTLL7	-	pfam_TTL/TTLL_fam	ENSG00000137941		0.393	TTLL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL7	HGNC	protein_coding	OTTHUMT00000027498.1	-	0.00	56	0	G	NM_024686		84399407	-1	tier1	-	no_errors	ENST00000260505	ensembl	human	known	74_37	missense	13.79	25	4	SNP	1.000	T
TTN	7273	genome.wustl.edu	37	2	179640736	179640736	+	Missense_Mutation	SNP	T	T	C	rs572691153		TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr2:179640736T>C	ENST00000591111.1	-	28	6079	c.5855A>G	c.(5854-5856)cAt>cGt	p.H1952R	TTN_ENST00000342175.6_Missense_Mutation_p.H1906R|TTN-AS1_ENST00000610005.1_RNA|TTN-AS1_ENST00000584485.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.H1952R|TTN_ENST00000360870.5_Missense_Mutation_p.H1952R|TTN_ENST00000460472.2_Missense_Mutation_p.H1906R|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.H1952R|TTN_ENST00000359218.5_Missense_Mutation_p.H1906R			Q8WZ42	TITIN_HUMAN	titin	12779					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCTGGTTCATGTACGTGAAA	0.423													T|||	1	0.000199681	0.0	0.0	5008	,	,		21388	0.0		0.0	False		,,,				2504	0.001																0													172.0	177.0	175.0					2																	179640736		2203	4300	6503	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.5855A>G	2.37:g.179640736T>C	ENSP00000465570:p.His1952Arg		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.H1952R	ENST00000591111.1	37	c.5855		2	.	.	.	.	.	.	.	.	.	.	T	3.274	-0.148519	0.06627	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.61510	0.1;0.33;0.32;0.31;0.45	5.1	5.1	0.69264	Ribonuclease H-like (1);	.	.	.	.	T	0.43211	0.1237	N	0.08118	0	0.20489	N	0.999894	P;P;P;P;P	0.47910	0.454;0.454;0.454;0.454;0.902	B;B;B;B;P	0.45946	0.057;0.057;0.057;0.057;0.498	T	0.34378	-0.9831	9	0.87932	D	0	.	10.6794	0.45804	0.0:0.0:0.3008:0.6992	.	1906;1906;1906;1952;1952	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	R	1952;1906;1906;1906;1906;1952	ENSP00000343764:H1952R;ENSP00000434586:H1906R;ENSP00000340554:H1906R;ENSP00000352154:H1906R;ENSP00000354117:H1952R	ENSP00000340554:H1906R	H	-	2	0	TTN	179348981	1.000000	0.71417	0.270000	0.24601	0.716000	0.41182	4.197000	0.58413	1.932000	0.55993	0.496000	0.49642	CAT	TTN	-	superfamily_RNaseH-like_dom	ENSG00000155657		0.423	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0.00	48	0	T	NM_133378		179640736	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	28.26	33	13	SNP	0.563	C
TTTY5	83863	genome.wustl.edu	37	Y	24443783	24443783	+	lincRNA	SNP	G	G	C			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chrY:24443783G>C	ENST00000400581.2	-	0	723					NR_001541.1				testis-specific transcript, Y-linked 5 (non-protein coding)																		CCGGGCTGCGGGGTCGGGTAG	0.617																																																	0																																												0			AF332236		Yq11.222	2012-10-12	2009-08-21		ENSG00000215560	ENSG00000215560		"""Long non-coding RNAs"""	16482	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 126"""	400038	"""testis-specific transcript, Y-linked 5"""				Standard	NR_001541		Approved	TTY5, LINC00126	uc004fvb.3		OTTHUMG00000043578		Y.37:g.24443783G>C				RNA	SNP	-	NULL	ENST00000400581.2	37	NULL		Y																																																																																			TTTY5	-	-	ENSG00000215560		0.617	TTTY5-001	KNOWN	basic	lincRNA	TTTY5	HGNC	lincRNA	OTTHUMT00000101917.1	-	0.00	30	0	G	NR_001541		24443783	-1	tier1	-	no_errors	ENST00000400581	ensembl	human	known	74_37	rna	41.77	46	33	SNP	0.030	C
TUBGCP5	114791	genome.wustl.edu	37	15	22842144	22842144	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr15:22842144G>T	ENST00000283645.4	+	6	713	c.583G>T	c.(583-585)Gat>Tat	p.D195Y	TUBGCP5_ENST00000453949.2_Missense_Mutation_p.D195Y	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	195					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gamma-tubulin ring complex (GO:0008274)|microtubule (GO:0005874)|nucleus (GO:0005634)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		AGAAGAACAAGATCAAAACAG	0.403																																																	0													110.0	105.0	106.0					15																	22842144		2203	4300	6503	SO:0001583	missense	0			AB067486	CCDS73697.1, CCDS73698.1	15q11.1	2014-04-17			ENSG00000153575	ENSG00000275835			18600	protein-coding gene	gene with protein product	"""gamma-tubulin complex component GCP5"""	608147				11694571	Standard	NM_052903		Approved	GCP5, KIAA1899	uc001yur.4	Q96RT8	OTTHUMG00000188371	ENST00000283645.4:c.583G>T	15.37:g.22842144G>T	ENSP00000283645:p.Asp195Tyr		E9PB12|Q6IQ52|Q96PY8	Missense_Mutation	SNP	pfam_TUBGCP	p.D195Y	ENST00000283645.4	37	c.583	CCDS10008.1	15	.	.	.	.	.	.	.	.	.	.	.	15.26	2.779334	0.49891	.	.	ENSG00000153575	ENST00000283645;ENST00000453949	T;T	0.24538	1.85;1.85	5.16	4.24	0.50183	.	0.185157	0.44902	D	0.000412	T	0.31327	0.0793	L	0.60455	1.87	0.52501	D	0.999954	P;P	0.40794	0.729;0.729	B;B	0.42386	0.276;0.386	T	0.15065	-1.0450	10	0.72032	D	0.01	-13.2926	14.1096	0.65113	0.0:0.1604:0.8396:0.0	.	195;195	Q96RT8;E9PB12	GCP5_HUMAN;.	Y	195	ENSP00000283645:D195Y;ENSP00000409217:D195Y	ENSP00000283645:D195Y	D	+	1	0	TUBGCP5	20393585	1.000000	0.71417	0.281000	0.24762	0.863000	0.49368	7.030000	0.76484	1.298000	0.44778	0.591000	0.81541	GAT	TUBGCP5	-	NULL	ENSG00000153575		0.403	TUBGCP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBGCP5	HGNC	protein_coding	OTTHUMT00000250998.2		0.00	24	0	G	NM_052903		22842144	+1			no_errors	ENST00000283645	ensembl	human	known	74_37	missense	6.67	27	2	SNP	0.980	T
USP9X	8239	genome.wustl.edu	37	X	41057781	41057781	+	Splice_Site	SNP	G	G	T			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chrX:41057781G>T	ENST00000324545.8	+	30	5014	c.4381G>T	c.(4381-4383)Gaa>Taa	p.E1461*	USP9X_ENST00000378308.2_Splice_Site_p.E1461*	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1461					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						AACTTTTTAGGAATTAATTGA	0.308																																					Ovarian(172;1807 2695 35459 49286)												0													90.0	76.0	81.0					X																	41057781		1926	4137	6063	SO:0001630	splice_region_variant	0			X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"""Ubiquitin-specific peptidases"""	12632	protein-coding gene	gene with protein product		300072	"""ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)"", ""ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)"", ""ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"""			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.4381-1G>T	X.37:g.41057781G>T			O75550|Q8WWT3|Q8WX12	Nonsense_Mutation	SNP	pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67	p.E1461*	ENST00000324545.8	37	c.4381	CCDS43930.1	X	.	.	.	.	.	.	.	.	.	.	G	48	14.146323	0.99781	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	.	.	.	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.7832	0.88530	0.0:0.0:1.0:0.0	.	.	.	.	X	1461	.	.	E	+	1	0	USP9X	40942725	1.000000	0.71417	1.000000	0.80357	0.735000	0.41995	9.471000	0.97696	2.219000	0.72066	0.544000	0.68410	GAA	USP9X	-	NULL	ENSG00000124486		0.308	USP9X-003	KNOWN	basic|CCDS	protein_coding	USP9X	HGNC	protein_coding	OTTHUMT00000056250.4	-	0.00	66	0	G	NM_004652	Nonsense_Mutation	41057781	+1	tier1	-	no_errors	ENST00000324545	ensembl	human	known	74_37	nonsense	8.89	41	4	SNP	1.000	T
VAMP8	8673	genome.wustl.edu	37	2	85808700	85808700	+	Splice_Site	SNP	C	C	T			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr2:85808700C>T	ENST00000263864.5	+	3	320	c.164C>T	c.(163-165)tCt>tTt	p.S55F	VAMP5_ENST00000306384.4_5'Flank|VAMP8_ENST00000409760.1_Splice_Site_p.V99V|VAMP8_ENST00000432071.1_Splice_Site_p.S29F	NM_003761.4	NP_003752.2	Q9BV40	VAMP8_HUMAN	vesicle-associated membrane protein 8	55	v-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00290}.				autophagic vacuole fusion (GO:0000046)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|regulation of endocytosis (GO:0030100)|SNARE complex assembly (GO:0035493)|viral entry into host cell (GO:0046718)	cell surface (GO:0009986)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|secretory granule membrane (GO:0030667)|SNARE complex (GO:0031201)				breast(1)|endometrium(2)|large_intestine(1)|stomach(2)	6						CCCCAACAGTCTGAGCACTTC	0.453																																																	0													237.0	201.0	213.0					2																	85808700		2203	4300	6503	SO:0001630	splice_region_variant	0			AF053233	CCDS1979.1	2p12-p11.2	2013-02-13	2012-10-17		ENSG00000118640	ENSG00000118640		"""Vesicle-associated membrane proteins"""	12647	protein-coding gene	gene with protein product	"""endobrevin"""	603177				9878266, 9614193	Standard	NM_003761		Approved	EDB	uc002spt.4	Q9BV40	OTTHUMG00000130180	ENST00000263864.5:c.163-1C>T	2.37:g.85808700C>T			O60625|Q53SP9|Q6IB09	Missense_Mutation	SNP	pfam_Synaptobrevin,pirsf_Synaptobrevin_met/fun,prints_Synaptobrevin,pfscan_Synaptobrevin	p.S55F	ENST00000263864.5	37	c.164	CCDS1979.1	2	.	.	.	.	.	.	.	.	.	.	C	16.57	3.158992	0.57368	.	.	ENSG00000118640	ENST00000432071;ENST00000263864	T;T	0.55588	0.51;0.51	5.55	4.68	0.58851	Synaptobrevin (3);	0.072864	0.56097	D	0.000030	T	0.58524	0.2128	M	0.89840	3.065	0.80722	D	1	B	0.30686	0.29	B	0.28139	0.086	T	0.64997	-0.6275	10	0.87932	D	0	-0.422	10.1859	0.42998	0.0:0.9112:0.0:0.0888	.	55	Q9BV40	VAMP8_HUMAN	F	29;55	ENSP00000407984:S29F;ENSP00000263864:S55F	ENSP00000263864:S55F	S	+	2	0	VAMP8	85662211	1.000000	0.71417	0.909000	0.35828	0.930000	0.56654	6.367000	0.73099	1.591000	0.50007	0.655000	0.94253	TCT	VAMP8	-	pfam_Synaptobrevin,pirsf_Synaptobrevin_met/fun,prints_Synaptobrevin,pfscan_Synaptobrevin	ENSG00000118640		0.453	VAMP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VAMP8	HGNC	protein_coding	OTTHUMT00000252498.3	-	0.00	63	0	C	NM_003761	Missense_Mutation	85808700	+1	tier1	-	no_errors	ENST00000263864	ensembl	human	known	74_37	missense	30.00	70	30	SNP	0.993	T
VEGFC	7424	genome.wustl.edu	37	4	177650746	177650746	+	Nonsense_Mutation	SNP	G	G	C			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr4:177650746G>C	ENST00000280193.2	-	2	717	c.302C>G	c.(301-303)tCa>tGa	p.S101*	VEGFC_ENST00000507638.1_5'UTR	NM_005429.2	NP_005420	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	101					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|induction of positive chemotaxis (GO:0050930)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of lymphangiogenesis (GO:1901492)|positive regulation of mast cell chemotaxis (GO:0060754)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein secretion (GO:0050714)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)|response to drug (GO:0042493)|signal transduction (GO:0007165)|substrate-dependent cell migration (GO:0006929)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	chemoattractant activity (GO:0042056)	p.S101*(1)		biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		TTCTGTCCTTGAGTTGAGGTT	0.373																																																	1	Substitution - Nonsense(1)	lung(1)											153.0	141.0	145.0					4																	177650746		1903	4120	6023	SO:0001587	stop_gained	0			BC035212	CCDS43285.1	4q34.3	2013-02-18				ENSG00000150630			12682	protein-coding gene	gene with protein product	"""vascular endothelial growth factor-related protein"""	601528				8617204	Standard	NM_005429		Approved	VRP	uc003ius.1	P49767		ENST00000280193.2:c.302C>G	4.37:g.177650746G>C	ENSP00000280193:p.Ser101*		B2R9Q8	Nonsense_Mutation	SNP	pfam_PDGF/VEGF_dom,pfam_CXCXC_repeat,smart_PDGF/VEGF_dom,pfscan_PDGF/VEGF_dom	p.S101*	ENST00000280193.2	37	c.302	CCDS43285.1	4	.	.	.	.	.	.	.	.	.	.	G	38	7.144219	0.98092	.	.	ENSG00000150630	ENST00000280193	.	.	.	5.06	2.37	0.29283	.	0.540016	0.20350	N	0.094066	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	0.6389	10.6419	0.45598	0.2137:0.0:0.7863:0.0	.	.	.	.	X	101	.	ENSP00000280193:S101X	S	-	2	0	VEGFC	177887740	0.365000	0.25006	0.024000	0.17045	0.108000	0.19459	2.205000	0.42770	0.254000	0.21573	0.484000	0.47621	TCA	VEGFC	-	NULL	ENSG00000150630		0.373	VEGFC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VEGFC	HGNC	protein_coding	OTTHUMT00000361991.1	-	0.00	86	0	G	NM_005429		177650746	-1	tier1	-	no_errors	ENST00000280193	ensembl	human	known	74_37	nonsense	42.68	47	35	SNP	0.089	C
VIPAS39	63894	genome.wustl.edu	37	14	77895359	77895359	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr14:77895359A>G	ENST00000553888.1	-	18	1856	c.1346T>C	c.(1345-1347)gTc>gCc	p.V449A	VIPAS39_ENST00000343765.2_Missense_Mutation_p.V449A|VIPAS39_ENST00000557658.1_Missense_Mutation_p.V449A|VIPAS39_ENST00000448935.2_Missense_Mutation_p.V400A|VIPAS39_ENST00000327028.4_Missense_Mutation_p.V436A|VIPAS39_ENST00000556412.1_Missense_Mutation_p.V475A	NM_001193314.1|NM_001193317.1|NM_022067.3	NP_001180243.1|NP_001180246.1|NP_071350.2	Q9H9C1	SPE39_HUMAN	VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog	449					cell differentiation (GO:0030154)|endosome to lysosome transport (GO:0008333)|intracellular protein transport (GO:0006886)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|late endosome (GO:0005770)|recycling endosome (GO:0055037)											ATCAATGACGACATCATGGCA	0.473																																																	0													153.0	122.0	133.0					14																	77895359		2203	4300	6503	SO:0001583	missense	0			AK022925	CCDS9862.1, CCDS53905.1	14q24.3-q31	2013-08-14	2012-07-24	2012-07-24	ENSG00000151445	ENSG00000151445			20347	protein-coding gene	gene with protein product	"""VPS33B interacting protein, apical-basolateral polarity regulator"""	613401	"""chromosome 14 open reading frame 133"""	C14orf133		20190753, 19109425, 22753090, 23002115, 23918659	Standard	NM_022067		Approved	VIPAR, VPS16B, SPE-39, SPE39, hSPE-39	uc001xtu.2	Q9H9C1		ENST00000553888.1:c.1346T>C	14.37:g.77895359A>G	ENSP00000452181:p.Val449Ala		B4DPI6|O95434|Q9H7E1|Q9H9I9	Missense_Mutation	SNP	pfam_Golgin_subfamily_A_member_5	p.V449A	ENST00000553888.1	37	c.1346	CCDS9862.1	14	.	.	.	.	.	.	.	.	.	.	A	26.5	4.747618	0.89663	.	.	ENSG00000151445	ENST00000343765;ENST00000553888;ENST00000327028;ENST00000557658;ENST00000448935;ENST00000556412	T;T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8;0.8	5.54	5.54	0.83059	.	0.103856	0.64402	D	0.000003	T	0.47655	0.1457	L	0.42245	1.32	0.54753	D	0.999989	P;P	0.50819	0.939;0.878	P;P	0.51453	0.67;0.458	T	0.37220	-0.9715	10	0.07813	T	0.8	-12.3656	14.6448	0.68754	1.0:0.0:0.0:0.0	.	400;449	B4DPI6;Q9H9C1	.;VIPAR_HUMAN	A	449;449;436;449;400;475	ENSP00000339122:V449A;ENSP00000452181:V449A;ENSP00000313098:V436A;ENSP00000452191:V449A;ENSP00000404815:V400A;ENSP00000451857:V475A	ENSP00000313098:V436A	V	-	2	0	VIPAR	76965112	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.672000	0.91181	2.094000	0.63399	0.533000	0.62120	GTC	VIPAS39	-	pfam_Golgin_subfamily_A_member_5	ENSG00000151445		0.473	VIPAS39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VIPAS39	HGNC	protein_coding	OTTHUMT00000414008.1		0.00	54	0	A	NM_022067		77895359	-1			no_errors	ENST00000343765	ensembl	human	known	74_37	missense	5.13	74	4	SNP	1.000	G
WHSC1L1	54904	genome.wustl.edu	37	8	38175279	38175280	+	Intron	INS	-	-	A	rs373484177		TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr8:38175279_38175280insA	ENST00000317025.8	-	9	2373				WHSC1L1_ENST00000316985.3_3'UTR|WHSC1L1_ENST00000525081.1_5'UTR|WHSC1L1_ENST00000527502.1_Intron|WHSC1L1_ENST00000433384.2_Intron	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1						histone lysine methylation (GO:0034968)|histone methylation (GO:0016571)|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)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			AGCTCAAACCGAAAAAAAAAAA	0.361			T	NUP98	AML																																			Dom	yes		8	8p12	54904	Wolf-Hirschhorn syndrome candidate 1-like 1 (NSD3)		L	0																																										SO:0001627	intron_variant	0			AF332469	CCDS6105.1, CCDS43729.1	8p11.2	2013-05-20			ENSG00000147548	ENSG00000147548			12767	protein-coding gene	gene with protein product		607083				10802047, 23269674	Standard	NM_023034		Approved	FLJ20353, NSD3	uc003xli.3	Q9BZ95		ENST00000317025.8:c.1855+1132->T	8.37:g.38175290_38175290dupA			B7ZL11|D3DSX1|Q1RMD3|Q3B796|Q6ZSA5|Q9BYU8|Q9BYU9|Q9H2M8|Q9H9W9|Q9NXA6	RNA	INS	-	NULL	ENST00000317025.8	37	NULL	CCDS43729.1	8																																																																																			WHSC1L1	-	-	ENSG00000147548		0.361	WHSC1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WHSC1L1	HGNC	protein_coding	OTTHUMT00000381924.3		0.00	18	0	-	NM_023034		38175280	-1	tier1		no_errors	ENST00000525081	ensembl	human	known	74_37	rna	11.54	23	3	INS	0.635:0.998	A
VPS13B	157680	genome.wustl.edu	37	8	100871642	100871642	+	Missense_Mutation	SNP	G	G	T	rs373947421		TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr8:100871642G>T	ENST00000358544.2	+	57	11164	c.11053G>T	c.(11053-11055)Ggc>Tgc	p.G3685C	VPS13B_ENST00000357162.2_Missense_Mutation_p.G3660C|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3685					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GCTGACCCGGGGCCCTGGAGC	0.572																																					Colon(161;2205 2542 7338 31318)												0													54.0	59.0	57.0					8																	100871642		2203	4300	6503	SO:0001583	missense	0			AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.11053G>T	8.37:g.100871642G>T	ENSP00000351346:p.Gly3685Cys		C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	pfam_Autophagy-rel_C	p.G3685C	ENST00000358544.2	37	c.11053	CCDS6280.1	8	.	.	.	.	.	.	.	.	.	.	G	27.0	4.788615	0.90367	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.75154	-0.9;-0.91	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.88258	0.6388	M	0.83774	2.66	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88689	0.3207	10	0.87932	D	0	.	20.3363	0.98740	0.0:0.0:1.0:0.0	.	3660;3685	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	C	3660;3685	ENSP00000349685:G3660C;ENSP00000351346:G3685C	ENSP00000349685:G3660C	G	+	1	0	VPS13B	100940818	1.000000	0.71417	0.970000	0.41538	0.886000	0.51366	9.476000	0.97823	2.814000	0.96858	0.563000	0.77884	GGC	VPS13B	-	NULL	ENSG00000132549		0.572	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13B	HGNC	protein_coding	OTTHUMT00000277138.1		0.00	37	0	G	NM_184042		100871642	+1			no_errors	ENST00000358544	ensembl	human	known	74_37	missense	7.14	39	3	SNP	1.000	T
YBX2	51087	genome.wustl.edu	37	17	7193602	7193602	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr17:7193602G>A	ENST00000007699.5	-	5	775	c.712C>T	c.(712-714)Ccc>Tcc	p.P238S	YBX2_ENST00000570627.1_5'Flank	NM_015982.3	NP_057066.2	Q9Y2T7	YBOX2_HUMAN	Y box binding protein 2	238	Pro-rich.|Required for mRNA-binding.				mRNA stabilization (GO:0048255)|negative regulation of binding (GO:0051100)|negative regulation of translation (GO:0017148)|oocyte development (GO:0048599)|regulation of transcription, DNA-templated (GO:0006355)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)|translational attenuation (GO:0009386)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|polysome (GO:0005844)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lipid binding (GO:0008289)|mRNA 3'-UTR binding (GO:0003730)|ribonucleoprotein complex binding (GO:0043021)|translation regulator activity (GO:0045182)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3)	12						GGAGGCCGGGGGCCTCGCACA	0.622																																																	0													93.0	113.0	107.0					17																	7193602		2202	4292	6494	SO:0001583	missense	0			AF096834	CCDS11098.1	17p13.1	2013-12-20			ENSG00000006047	ENSG00000006047			17948	protein-coding gene	gene with protein product		611447				10100484, 9780336	Standard	NM_015982		Approved	MSY2, CSDA3	uc002gfq.2	Q9Y2T7	OTTHUMG00000177992	ENST00000007699.5:c.712C>T	17.37:g.7193602G>A	ENSP00000007699:p.Pro238Ser		D3DTP1|Q8N4P0	Missense_Mutation	SNP	pfam_CSP_DNA-bd,superfamily_NA-bd_OB-fold,smart_Cold_shock_prot,prints_CSP_DNA-bd	p.P238S	ENST00000007699.5	37	c.712	CCDS11098.1	17	.	.	.	.	.	.	.	.	.	.	G	17.13	3.310755	0.60414	.	.	ENSG00000006047	ENST00000007699	T	0.24908	1.83	5.26	4.28	0.50868	.	0.396453	0.24737	N	0.036008	T	0.34077	0.0885	L	0.29908	0.895	0.39642	D	0.970339	D	0.89917	1.0	D	0.83275	0.996	T	0.02070	-1.1219	10	0.21540	T	0.41	-4.1034	11.2312	0.48914	0.089:0.0:0.911:0.0	.	238	Q9Y2T7	YBOX2_HUMAN	S	238	ENSP00000007699:P238S	ENSP00000007699:P238S	P	-	1	0	YBX2	7134326	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	3.430000	0.52807	2.642000	0.89623	0.561000	0.74099	CCC	YBX2	-	NULL	ENSG00000006047		0.622	YBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YBX2	HGNC	protein_coding	OTTHUMT00000440172.2	-	0.00	96	0	G	NM_015982		7193602	-1	tier1	-	no_errors	ENST00000007699	ensembl	human	known	74_37	missense	25.26	71	24	SNP	1.000	A
ZADH2	284273	genome.wustl.edu	37	18	72914034	72914035	+	Missense_Mutation	DNP	GC	GC	AA			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	G|C	G|C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr18:72914034_72914035GC>AA	ENST00000322342.3	-	2	759_760	c.470_471GC>TT	c.(469-471)gGC>gTT	p.G157V	ZADH2_ENST00000537114.2_Missense_Mutation_p.G34V	NM_175907.4	NP_787103.1	Q8N4Q0	ZADH2_HUMAN	zinc binding alcohol dehydrogenase domain containing 2	157						mitochondrion (GO:0005739)|peroxisome (GO:0005777)	oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(3)|lung(8)|skin(1)	15		Esophageal squamous(42;0.131)|Prostate(75;0.155)		READ - Rectum adenocarcinoma(2;0.0276)|BRCA - Breast invasive adenocarcinoma(31;0.216)		ATGCGGTGGTGCCACTTACCAG	0.545																																																	0																																										SO:0001583	missense	0			BC033780	CCDS12008.1	18q22.3	2008-05-29	2008-05-29		ENSG00000180011	ENSG00000180011			28697	protein-coding gene	gene with protein product						12477932	Standard	NM_175907		Approved	MGC45594	uc002llx.3	Q8N4Q0	OTTHUMG00000132858	ENST00000322342.3:c.470_471delinsAA	18.37:g.72914034_72914035delinsAA	ENSP00000323678:p.Gly157Val		A8KA15|B4DZ91	Silent|Missense_Mutation	SNP	pfam_ADH_C,pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER	p.G157|p.G157V	ENST00000322342.3	37	c.471|c.470	CCDS12008.1	18																																																																																			ZADH2	-	superfamily_GroES-like,smart_PKS_ER	ENSG00000180011		0.545	ZADH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZADH2	HGNC	protein_coding	OTTHUMT00000256332.1	-	0.00	16	0	G|C	NM_175907		72914034|72914035	-1	tier1	-	no_errors	ENST00000322342	ensembl	human	known	74_37	silent|missense	31.58	13	6	SNP	1.000	A
ZFHX2	85446	genome.wustl.edu	37	14	23999349	23999349	+	Missense_Mutation	SNP	T	T	C			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr14:23999349T>C	ENST00000419474.3	-	5	3210	c.2855A>G	c.(2854-2856)cAg>cGg	p.Q952R	RP11-66N24.4_ENST00000554403.1_RNA|RP11-66N24.4_ENST00000556354.1_RNA|RP11-66N24.4_ENST00000553985.1_RNA	NM_033400.2	NP_207646.2	Q9C0A1	ZFHX2_HUMAN	zinc finger homeobox 2	952					adult behavior (GO:0030534)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	5						TGTCTTGTTCTGGGCATCTTT	0.572																																																	0																																										SO:0001583	missense	0			AB051549	CCDS55907.1	14q11.2	2012-03-09			ENSG00000136367	ENSG00000136367		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	20152	protein-coding gene	gene with protein product			"""zinc finger protein 409"""	ZNF409		11214970, 10470851	Standard	NM_033400		Approved	KIAA1762, KIAA1056, ZFH-5	uc010tno.2	Q9C0A1	OTTHUMG00000156894	ENST00000419474.3:c.2855A>G	14.37:g.23999349T>C	ENSP00000413418:p.Gln952Arg		Q9UPU6	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2	p.Q952R	ENST00000419474.3	37	c.2855	CCDS55907.1	14	.	.	.	.	.	.	.	.	.	.	T	13.76	2.332146	0.41297	.	.	ENSG00000136367	ENST00000419474	T	0.78924	-1.22	5.24	5.24	0.73138	.	.	.	.	.	T	0.76328	0.3972	L	0.54323	1.7	0.27013	N	0.964635	.	.	.	.	.	.	T	0.66244	-0.5972	7	0.18276	T	0.48	.	11.4654	0.50235	0.0:0.0:0.0:1.0	.	.	.	.	R	952	ENSP00000413418:Q952R	ENSP00000413418:Q952R	Q	-	2	0	ZFHX2	23069189	1.000000	0.71417	0.998000	0.56505	0.947000	0.59692	2.143000	0.42187	2.197000	0.70478	0.455000	0.32223	CAG	ZFHX2	-	NULL	ENSG00000136367		0.572	ZFHX2-001	KNOWN	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	ZFHX2	HGNC	protein_coding	OTTHUMT00000346484.3	-	0.00	31	0	T	NM_014894		23999349	-1	tier1	-	no_errors	ENST00000419474	ensembl	human	known	74_37	missense	8.93	51	5	SNP	0.998	C
ZNF10	7556	genome.wustl.edu	37	12	133727694	133727694	+	Silent	SNP	G	G	T			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr12:133727694G>T	ENST00000248211.6	+	3	336	c.114G>T	c.(112-114)gtG>gtT	p.V38V	ZNF10_ENST00000402932.2_Silent_p.V38V|ZNF10_ENST00000426665.2_Silent_p.V38V|ZNF10_ENST00000540927.1_3'UTR|ZNF268_ENST00000416488.1_Silent_p.V38V|CTD-2140B24.4_ENST00000540096.2_Silent_p.V38V	NM_015394.4	NP_056209.2	P21506	ZNF10_HUMAN	zinc finger protein 10	38	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(1)|skin(5)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		AGCAGATCGTGTACAGAAATG	0.433																																																	0													232.0	210.0	218.0					12																	133727694		2203	4300	6503	SO:0001819	synonymous_variant	0			X52332, BC024182	CCDS9283.1	12q24.33	2013-01-08	2005-05-22		ENSG00000256223	ENSG00000256223		"""Zinc fingers, C2H2-type"", ""-"""	12879	protein-coding gene	gene with protein product		194538	"""zinc finger protein 10 (KOX 1)"""			7865130, 8262519	Standard	NM_015394		Approved	KOX1	uc001ulq.3	P21506	OTTHUMG00000167944	ENST00000248211.6:c.114G>T	12.37:g.133727694G>T			B2RBS1|Q8TC91	Silent	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.V38	ENST00000248211.6	37	c.114	CCDS9283.1	12																																																																																			ZNF10	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000256223		0.433	ZNF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF10	HGNC	protein_coding	OTTHUMT00000397182.1		0.00	56	0	G	NM_015394		133727694	+1			no_errors	ENST00000248211	ensembl	human	known	74_37	silent	5.36	53	3	SNP	0.998	T
ZNF536	9745	genome.wustl.edu	37	19	31039123	31039123	+	Missense_Mutation	SNP	C	C	G			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr19:31039123C>G	ENST00000355537.3	+	4	2744	c.2597C>G	c.(2596-2598)tCt>tGt	p.S866C		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	866					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GTTCTCTCCTCTGGAGATCAC	0.587																																																	0													65.0	70.0	69.0					19																	31039123		2203	4300	6503	SO:0001583	missense	0				CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.2597C>G	19.37:g.31039123C>G	ENSP00000347730:p.Ser866Cys		A2RU18	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S866C	ENST00000355537.3	37	c.2597	CCDS32984.1	19	.	.	.	.	.	.	.	.	.	.	C	11.02	1.517322	0.27123	.	.	ENSG00000198597	ENST00000355537	T	0.09630	2.96	5.71	5.71	0.89125	.	0.106346	0.64402	D	0.000003	T	0.22399	0.0540	L	0.29908	0.895	0.48185	D	0.999609	D;D	0.76494	0.999;0.999	P;P	0.61328	0.887;0.887	T	0.00395	-1.1766	10	0.62326	D	0.03	-19.5026	19.8413	0.96690	0.0:1.0:0.0:0.0	.	866;866	A7E228;O15090	.;ZN536_HUMAN	C	866	ENSP00000347730:S866C	ENSP00000347730:S866C	S	+	2	0	ZNF536	35730963	0.907000	0.30839	0.081000	0.20488	0.019000	0.09904	7.467000	0.80930	2.705000	0.92388	0.579000	0.79373	TCT	ZNF536	-	NULL	ENSG00000198597		0.587	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF536	HGNC	protein_coding	OTTHUMT00000459667.2	-	0.00	34	0	C	NM_014717		31039123	+1	tier1	-	no_errors	ENST00000355537	ensembl	human	known	74_37	missense	24.24	25	8	SNP	0.947	G
ZNF540	163255	genome.wustl.edu	37	19	38102492	38102492	+	Missense_Mutation	SNP	T	T	C			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr19:38102492T>C	ENST00000592533.1	+	5	643	c.311T>C	c.(310-312)aTa>aCa	p.I104T	ZNF540_ENST00000586792.1_Nonstop_Mutation_p.*30Q|ZNF540_ENST00000343599.5_Missense_Mutation_p.I104T|ZNF540_ENST00000589117.1_Missense_Mutation_p.I72T|ZNF540_ENST00000316433.4_Missense_Mutation_p.I104T	NM_152606.4	NP_689819.1	Q8NDQ6	ZN540_HUMAN	zinc finger protein 540	104					negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(13)|lung(8)|skin(1)	28			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AAAGAGAGTATAATAGAAAAA	0.333																																																	0													84.0	95.0	91.0					19																	38102492		2201	4298	6499	SO:0001583	missense	0			AL832315	CCDS12506.1, CCDS54258.1	19q13.13	2013-01-08				ENSG00000171817		"""Zinc fingers, C2H2-type"", ""-"""	25331	protein-coding gene	gene with protein product		613903					Standard	NM_152606		Approved	DKFZp547B0714	uc002ogq.4	Q8NDQ6		ENST00000592533.1:c.311T>C	19.37:g.38102492T>C	ENSP00000466274:p.Ile104Thr		A0AVS5|A8K371|Q05D58|Q3LIC5|Q6ZN36|Q7Z3C8|Q86T31	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.I104T	ENST00000592533.1	37	c.311	CCDS12506.1	19	.	.	.	.	.	.	.	.	.	.	T	1.381	-0.583337	0.03827	.	.	ENSG00000171817	ENST00000316433;ENST00000343599	T	0.09538	2.97	2.04	-3.17	0.05202	.	.	.	.	.	T	0.07052	0.0179	L	0.43152	1.355	0.09310	N	1	B;B	0.12630	0.006;0.003	B;B	0.04013	0.001;0.0	T	0.41716	-0.9493	9	0.21540	T	0.41	.	2.8703	0.05615	0.4214:0.1378:0.0:0.4407	.	72;104	Q8NDQ6-2;Q8NDQ6	.;ZN540_HUMAN	T	104;72	ENSP00000324598:I104T	ENSP00000324598:I104T	I	+	2	0	ZNF540	42794332	0.000000	0.05858	0.000000	0.03702	0.211000	0.24417	-0.388000	0.07352	-1.172000	0.02762	-0.877000	0.02976	ATA	ZNF540	-	NULL	ENSG00000171817		0.333	ZNF540-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	ZNF540	HGNC	protein_coding	OTTHUMT00000459481.1	-	0.00	27	0	T	NM_152606		38102492	+1	tier1	-	no_errors	ENST00000316433	ensembl	human	known	74_37	missense	23.08	20	6	SNP	0.088	C
ZNF547	284306	genome.wustl.edu	37	19	57889016	57889016	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr19:57889016G>T	ENST00000282282.3	+	4	822	c.672G>T	c.(670-672)aaG>aaT	p.K224N	AC003002.4_ENST00000597658.1_Intron	NM_173631.2	NP_775902.2	Q8IVP9	ZN547_HUMAN	zinc finger protein 547	224					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	12		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TTCTTTGTAAGTCTCACCTTG	0.428																																																	0													102.0	94.0	97.0					19																	57889016		2203	4300	6503	SO:0001583	missense	0			AK055662	CCDS33131.1	19q13.43	2013-01-08				ENSG00000152433		"""Zinc fingers, C2H2-type"", ""-"""	26432	protein-coding gene	gene with protein product							Standard	NM_173631		Approved	FLJ31100	uc002qol.3	Q8IVP9		ENST00000282282.3:c.672G>T	19.37:g.57889016G>T	ENSP00000282282:p.Lys224Asn		A8K5Z9|Q96NC4	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.K224N	ENST00000282282.3	37	c.672	CCDS33131.1	19	.	.	.	.	.	.	.	.	.	.	G	9.439	1.087536	0.20390	.	.	ENSG00000152433	ENST00000391704;ENST00000282282	T	0.13778	2.56	1.87	-3.74	0.04385	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06462	0.0166	L	0.38733	1.17	0.09310	N	1	B;P;B	0.40515	0.001;0.719;0.071	B;B;B	0.30316	0.002;0.114;0.005	T	0.35847	-0.9772	9	0.07644	T	0.81	.	8.4331	0.32771	0.0:0.52:0.2181:0.2618	.	224;224;224	Q8IVP9-2;C9JTQ3;Q8IVP9	.;.;ZN547_HUMAN	N	224	ENSP00000282282:K224N	ENSP00000282282:K224N	K	+	3	2	ZNF547	62580828	0.000000	0.05858	0.000000	0.03702	0.979000	0.70002	-10.071000	0.00008	-1.703000	0.01409	0.491000	0.48974	AAG	ZNF547	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000152433		0.428	ZNF547-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF547	HGNC	protein_coding	OTTHUMT00000465787.1		0.00	63	0	G	NM_173631		57889016	+1			no_errors	ENST00000282282	ensembl	human	known	74_37	missense	9.30	39	4	SNP	0.000	T
