#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
ABCC12	94160	genome.wustl.edu	37	16	48139202	48139202	+	Missense_Mutation	SNP	C	C	G	rs367859326		TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr16:48139202C>G	ENST00000311303.3	-	19	2866	c.2521G>C	c.(2521-2523)Gcg>Ccg	p.A841P	ABCC12_ENST00000416054.1_3'UTR|ABCC12_ENST00000448542.1_Missense_Mutation_p.A838P	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	841	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.					integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.A841T(1)		NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				GCCAGCACCGCGCCGACCTCA	0.532																																																	1	Substitution - Missense(1)	endometrium(1)											127.0	91.0	103.0					16																	48139202		2201	4300	6501	SO:0001583	missense	0			AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"""ATP binding cassette transporters / subfamily C"""	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.2521G>C	16.37:g.48139202C>G	ENSP00000311030:p.Ala841Pro		Q49AL2|Q8TAF0|Q8TEY2	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.A841P	ENST00000311303.3	37	c.2521	CCDS10730.1	16	.	.	.	.	.	.	.	.	.	.	C	12.79	2.042098	0.35989	.	.	ENSG00000140798	ENST00000311303;ENST00000448542;ENST00000449939	T;T	0.47177	0.85;0.85	5.21	-3.96	0.04106	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	1.234800	0.05497	N	0.557775	T	0.26774	0.0655	N	0.12746	0.255	0.09310	N	1	B	0.11235	0.004	B	0.16722	0.016	T	0.20840	-1.0263	10	0.37606	T	0.19	.	6.4171	0.21721	0.0:0.2081:0.2629:0.529	.	841	Q96J65	MRP9_HUMAN	P	841;838;759	ENSP00000311030:A841P;ENSP00000401855:A838P	ENSP00000311030:A841P	A	-	1	0	ABCC12	46696703	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.119000	0.00596	-0.817000	0.04335	-0.140000	0.14226	GCG	ABCC12	-	pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom	ENSG00000140798		0.532	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC12	HGNC	protein_coding	OTTHUMT00000256837.1		0.00	37	0	C	NM_033226		48139202	-1			no_errors	ENST00000311303	ensembl	human	known	74_37	missense	12.50	14	2	SNP	0.000	G
ABCC8	6833	genome.wustl.edu	37	11	17483280	17483280	+	Silent	SNP	C	C	T			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr11:17483280C>T	ENST00000389817.3	-	5	740	c.672G>A	c.(670-672)ctG>ctA	p.L224L	ABCC8_ENST00000302539.4_Silent_p.L224L			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	224					carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|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 ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	CTTTGGACAGCAGATTCACGA	0.577																																																	0													155.0	134.0	141.0					11																	17483280		2200	4293	6493	SO:0001819	synonymous_variant	0			L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"""ATP binding cassette transporters / subfamily C"""	59	protein-coding gene	gene with protein product	"""sulfonylurea receptor (hyperinsulinemia)"""	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.672G>A	11.37:g.17483280C>T			A6NMX8|E3UYX6|O75948|Q16583	Silent	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,prints_Sulphorea_rcpt,prints_Surea_rcpt-1,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.L224	ENST00000389817.3	37	c.672	CCDS31437.1	11																																																																																			ABCC8	-	prints_Sulphorea_rcpt	ENSG00000006071		0.577	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ABCC8	HGNC	protein_coding	OTTHUMT00000389093.1	-	0.00	44	0	C	NM_000352		17483280	-1	tier1	-	no_errors	ENST00000302539	ensembl	human	known	74_37	silent	32.00	34	16	SNP	1.000	T
ABCG2	9429	genome.wustl.edu	37	4	89052313	89052313	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr4:89052313G>A	ENST00000237612.3	-	5	976	c.431C>T	c.(430-432)gCa>gTa	p.A144V	ABCG2_ENST00000515655.1_Missense_Mutation_p.A144V	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)	144	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular iron ion homeostasis (GO:0006879)|drug export (GO:0046618)|drug transmembrane transport (GO:0006855)|embryonic process involved in female pregnancy (GO:0060136)|heme transport (GO:0015886)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|response to iron ion (GO:0010039)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|urate metabolic process (GO:0046415)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|heme transporter activity (GO:0015232)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)	p.A144E(2)		breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Afatinib(DB08916)|Apixaban(DB06605)|Buprenorphine(DB00921)|Cabazitaxel(DB06772)|Carboplatin(DB00958)|Cisplatin(DB00515)|Cladribine(DB00242)|Clofarabine(DB00631)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Diethylstilbestrol(DB00255)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gefitinib(DB00317)|Glyburide(DB01016)|Hesperetin(DB01094)|Hydrocortisone(DB00741)|Imatinib(DB00619)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Methotrexate(DB00563)|Mitoxantrone(DB01204)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Nilotinib(DB04868)|Nitrofurantoin(DB00698)|Novobiocin(DB01051)|Omeprazole(DB00338)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pitavastatin(DB08860)|Ponatinib(DB08901)|Pravastatin(DB00175)|Prazosin(DB00457)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Sorafenib(DB00398)|Sulfasalazine(DB00795)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Teniposide(DB00444)|Teriflunomide(DB08880)|Testosterone(DB00624)|Topotecan(DB01030)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vincristine(DB00541)|Vismodegib(DB08828)|Zafirlukast(DB00549)|Zidovudine(DB00495)	CCGAAGAGCTGCTGAGAACTG	0.403																																																	2	Substitution - Missense(2)	lung(2)											217.0	196.0	203.0					4																	89052313		2203	4300	6503	SO:0001583	missense	0			AF103796	CCDS3628.1, CCDS58910.1	4q22.1	2014-08-27	2014-08-27		ENSG00000118777	ENSG00000118777		"""CD molecules"", ""ATP binding cassette transporters / subfamily G"""	74	protein-coding gene	gene with protein product		603756	"""ATP-binding cassette, sub-family G (WHITE), member 2"""			8894702, 9861027	Standard	NM_001257386		Approved	EST157481, MXR, BCRP, ABCP, CD338	uc003hrg.3	Q9UNQ0	OTTHUMG00000130601	ENST00000237612.3:c.431C>T	4.37:g.89052313G>A	ENSP00000237612:p.Ala144Val		A0A1W3|A8K1T5|O95374|Q4W5I3|Q53ZQ1|Q569L4|Q5YLG4|Q86V64|Q8IX16|Q96LD6|Q96TA8|Q9BY73|Q9NUS0	Missense_Mutation	SNP	pfam_ABC_2_trans,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.A144V	ENST00000237612.3	37	c.431	CCDS3628.1	4	.	.	.	.	.	.	.	.	.	.	G	36	5.692832	0.96793	.	.	ENSG00000118777	ENST00000515655;ENST00000237612	T;T	0.40476	1.03;1.03	5.37	5.37	0.77165	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	T	0.70219	0.3199	M	0.84846	2.72	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;0.999	T	0.74945	-0.3491	10	0.87932	D	0	-1.7957	19.0867	0.93206	0.0:0.0:1.0:0.0	.	144;144;144	Q9UNQ0-2;Q9UNQ0;Q4W5I3	.;ABCG2_HUMAN;.	V	144	ENSP00000426917:A144V;ENSP00000237612:A144V	ENSP00000237612:A144V	A	-	2	0	ABCG2	89271337	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.397000	0.97276	2.677000	0.91161	0.655000	0.94253	GCA	ABCG2	-	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	ENSG00000118777		0.403	ABCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCG2	HGNC	protein_coding	OTTHUMT00000253051.1		0.00	45	0	G	NM_004827		89052313	-1			no_errors	ENST00000237612	ensembl	human	known	74_37	missense	6.90	26	2	SNP	1.000	A
ABCG5	64240	genome.wustl.edu	37	2	44055245	44055245	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr2:44055245C>T	ENST00000260645.1	-	5	650	c.511G>A	c.(511-513)Gtc>Atc	p.V171I	ABCG5_ENST00000405322.1_Missense_Mutation_p.V90I|ABCG5_ENST00000543989.1_5'UTR	NM_022436.2	NP_071881.1	Q9H222	ABCG5_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 5	171	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cholesterol transporter activity (GO:0017127)|protein heterodimerization activity (GO:0046982)			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	TCTGCCATGACGGCCTCCACC	0.582																																																	0													54.0	49.0	51.0					2																	44055245		2203	4300	6503	SO:0001583	missense	0			T93792	CCDS1814.1	2p21	2012-03-14	2008-07-31		ENSG00000138075	ENSG00000138075		"""ATP binding cassette transporters / subfamily G"""	13886	protein-coding gene	gene with protein product	"""sterolin 1"""	605459				11099417, 11452359	Standard	NM_022436		Approved	STSL	uc002rtn.3	Q9H222	OTTHUMG00000128758	ENST00000260645.1:c.511G>A	2.37:g.44055245C>T	ENSP00000260645:p.Val171Ile		Q2T9G2|Q96QZ2|Q96QZ3	Missense_Mutation	SNP	pfam_ABC_2_trans,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.V171I	ENST00000260645.1	37	c.511	CCDS1814.1	2	.	.	.	.	.	.	.	.	.	.	C	12.80	2.046266	0.36085	.	.	ENSG00000138075	ENST00000260645;ENST00000405322	D;D	0.93811	-3.29;-3.29	5.25	3.44	0.39384	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.245177	0.40302	N	0.001125	D	0.84678	0.5525	N	0.11255	0.115	0.80722	D	1	B;B	0.21309	0.024;0.054	B;B	0.18871	0.009;0.023	T	0.73736	-0.3889	10	0.17369	T	0.5	.	13.917	0.63905	0.0:0.8598:0.0:0.1402	.	90;171	E7EX35;Q9H222	.;ABCG5_HUMAN	I	171;90	ENSP00000260645:V171I;ENSP00000384513:V90I	ENSP00000260645:V171I	V	-	1	0	ABCG5	43908749	0.990000	0.36364	0.304000	0.25085	0.508000	0.34012	2.889000	0.48601	0.230000	0.21059	-0.797000	0.03246	GTC	ABCG5	-	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	ENSG00000138075		0.582	ABCG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCG5	HGNC	protein_coding	OTTHUMT00000250675.1		0.00	36	0	C	NM_022436		44055245	-1			no_errors	ENST00000260645	ensembl	human	known	74_37	missense	6.25	45	3	SNP	0.976	T
ABHD16B	140701	genome.wustl.edu	37	20	62493771	62493771	+	Missense_Mutation	SNP	G	G	A	rs144773464	byFrequency	TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr20:62493771G>A	ENST00000369916.3	+	1	1206	c.878G>A	c.(877-879)cGc>cAc	p.R293H	TPD52L2_ENST00000351424.4_5'Flank|TPD52L2_ENST00000217121.5_5'Flank|TPD52L2_ENST00000346249.4_5'Flank|TPD52L2_ENST00000358548.4_5'Flank|TPD52L2_ENST00000348257.5_5'Flank|C20ORF135_ENST00000601296.1_5'Flank|TPD52L2_ENST00000369927.4_5'Flank|TPD52L2_ENST00000352482.4_5'Flank	NM_080622.3	NP_542189.1	Q9H3Z7	ABHGB_HUMAN	abhydrolase domain containing 16B	293							hydrolase activity (GO:0016787)			endometrium(2)|kidney(1)|lung(3)	6						CTGGTGGTGCGCACCGTGCGC	0.672													G|||	2	0.000399361	0.0008	0.0014	5008	,	,		17593	0.0		0.0	False		,,,				2504	0.0																0								G	HIS/ARG	1,4375		0,1,2187	22.0	16.0	18.0		878	4.8	1.0	20	dbSNP_134	18	0,8584		0,0,4292	no	missense	ABHD16B	NM_080622.3	29	0,1,6479	AA,AG,GG		0.0,0.0229,0.0077	benign	293/470	62493771	1,12959	2188	4292	6480	SO:0001583	missense	0				CCDS13539.1	20q13.33	2013-01-17	2010-12-09	2010-12-09	ENSG00000183260	ENSG00000183260		"""Abhydrolase domain containing"""	16128	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 135"""	C20orf135			Standard	NM_080622		Approved	dJ591C20.1	uc002ygx.1	Q9H3Z7	OTTHUMG00000033010	ENST00000369916.3:c.878G>A	20.37:g.62493771G>A	ENSP00000358932:p.Arg293His			Missense_Mutation	SNP	pfam_AB_hydrolase_1	p.R293H	ENST00000369916.3	37	c.878	CCDS13539.1	20	.	.	.	.	.	.	.	.	.	.	G	14.53	2.563579	0.45694	2.29E-4	0.0	ENSG00000183260	ENST00000369916	T	0.38560	1.13	4.85	4.85	0.62838	.	0.146689	0.40469	N	0.001087	T	0.41488	0.1161	L	0.40543	1.245	0.36060	D	0.841376	P	0.42357	0.777	P	0.45794	0.493	T	0.48055	-0.9068	10	0.28530	T	0.3	-9.1203	15.4277	0.75065	0.0:0.0:1.0:0.0	.	293	Q9H3Z7	ABHGB_HUMAN	H	293	ENSP00000358932:R293H	ENSP00000358932:R293H	R	+	2	0	ABHD16B	61964215	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	4.385000	0.59613	2.235000	0.73313	0.491000	0.48974	CGC	ABHD16B	-	pfam_AB_hydrolase_1	ENSG00000183260		0.672	ABHD16B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABHD16B	HGNC	protein_coding	OTTHUMT00000080254.1	-	0.00	60	0	G			62493771	+1	tier1	rs144773464	no_errors	ENST00000369916	ensembl	human	known	74_37	missense	6.52	86	6	SNP	1.000	A
ACAN	176	genome.wustl.edu	37	15	89398111	89398111	+	Silent	SNP	C	C	T	rs546447132		TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr15:89398111C>T	ENST00000561243.1	+	11	2295	c.2295C>T	c.(2293-2295)ggC>ggT	p.G765G	ACAN_ENST00000352105.7_Silent_p.G765G|ACAN_ENST00000559004.1_Silent_p.G765G|ACAN_ENST00000439576.2_Silent_p.G765G			P16112	PGCA_HUMAN	aggrecan	764	KS.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CTCCCACTGGCGCAGCAACAG	0.517													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19176	0.0		0.0	False		,,,				2504	0.0																0													21.0	23.0	22.0					15																	89398111		1914	4112	6026	SO:0001819	synonymous_variant	0			M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.2295C>T	15.37:g.89398111C>T			Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Silent	SNP	pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link	p.G765	ENST00000561243.1	37	c.2295	CCDS53970.1	15																																																																																			ACAN	-	NULL	ENSG00000157766		0.517	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	ACAN	HGNC	protein_coding	OTTHUMT00000416267.2	-	0.00	91	0	C	NM_001135		89398111	+1	tier1	-	no_errors	ENST00000439576	ensembl	human	known	74_37	silent	49.48	49	48	SNP	0.000	T
ACOT9	23597	genome.wustl.edu	37	X	23722811	23722811	+	Splice_Site	SNP	C	C	T			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chrX:23722811C>T	ENST00000336430.7	-	14	1362	c.1231G>A	c.(1231-1233)Gag>Aag	p.E411K	ACOT9_ENST00000379295.1_Splice_Site_p.E351K|ACOT9_ENST00000379303.5_Splice_Site_p.E420K	NM_001033583.2	NP_001028755.2	Q9Y305	ACOT9_HUMAN	acyl-CoA thioesterase 9	411					acyl-CoA metabolic process (GO:0006637)	mitochondrion (GO:0005739)	acetyl-CoA hydrolase activity (GO:0003986)|carboxylic ester hydrolase activity (GO:0052689)			breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(4)|pancreas(1)|skin(1)	15						CACTACTTACCTCCATATGTT	0.423																																																	0													147.0	142.0	143.0					X																	23722811		2203	4300	6503	SO:0001630	splice_region_variant	0			AF132950	CCDS35216.1, CCDS43924.1	Xp22.11	2008-02-05			ENSG00000123130	ENSG00000123130		"""Acyl CoA thioesterases"""	17152	protein-coding gene	gene with protein product		300862				10383425, 10810093, 16103133, 16940157	Standard	XM_005274471		Approved	CGI-16, MT-ACT48, ACATE2	uc004dao.3	Q9Y305	OTTHUMG00000021257	ENST00000336430.7:c.1231+1G>A	X.37:g.23722811C>T			B3KNC9|B7ZM94	Missense_Mutation	SNP	pfam_Thioestr_supf	p.E420K	ENST00000336430.7	37	c.1258	CCDS35216.1	X	.	.	.	.	.	.	.	.	.	.	C	23.6	4.432021	0.83776	.	.	ENSG00000123130	ENST00000379303;ENST00000336430;ENST00000379295	T;T;T	0.39787	1.06;1.06;1.06	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.60261	0.2255	M	0.88377	2.95	0.80722	D	1	B;B;P	0.38729	0.415;0.292;0.644	B;B;P	0.44561	0.377;0.215;0.453	T	0.65038	-0.6265	9	.	.	.	-21.3791	18.6552	0.91450	0.0:1.0:0.0:0.0	.	378;411;420	Q9Y305-2;Q9Y305;Q9Y305-4	.;ACOT9_HUMAN;.	K	420;411;351	ENSP00000368605:E420K;ENSP00000336580:E411K;ENSP00000368597:E351K	.	E	-	1	0	ACOT9	23632732	1.000000	0.71417	1.000000	0.80357	0.632000	0.37999	7.689000	0.84165	2.436000	0.82500	0.506000	0.49869	GAG	ACOT9	-	NULL	ENSG00000123130		0.423	ACOT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACOT9	HGNC	protein_coding	OTTHUMT00000056065.1	-	0.00	49	0	C	NM_012332	Missense_Mutation	23722811	-1	tier1	-	no_errors	ENST00000379303	ensembl	human	known	74_37	missense	95.83	1	23	SNP	1.000	T
ACSBG1	23205	genome.wustl.edu	37	15	78473257	78473257	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr15:78473257G>A	ENST00000258873.4	-	9	1298	c.1093C>T	c.(1093-1095)Cgg>Tgg	p.R365W	ACSBG1_ENST00000541759.1_Missense_Mutation_p.R123W|ACSBG1_ENST00000560817.1_Missense_Mutation_p.R123W	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	365					long-chain fatty acid metabolic process (GO:0001676)|myelination (GO:0042552)|ovarian follicle atresia (GO:0001552)|response to glucocorticoid (GO:0051384)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						TCCACCTCCCGCAGCGTGTTC	0.652																																																	0													70.0	62.0	64.0					15																	78473257		2196	4293	6489	SO:0001583	missense	0			AB014531	CCDS10298.1	15q23-q24	2006-02-09			ENSG00000103740	ENSG00000103740		"""Acyl-CoA synthetase family"""	29567	protein-coding gene	gene with protein product	"""bubblegum"", ""very long-chain acyl-CoA synthetase"", ""lipidosin"""	614362				9734811, 10954726	Standard	NM_015162		Approved	BGM, FLJ30320, MGC14352, BG1, KIAA0631, hBG1, hsBG	uc002bdh.3	Q96GR2	OTTHUMG00000143734	ENST00000258873.4:c.1093C>T	15.37:g.78473257G>A	ENSP00000258873:p.Arg365Trp		B2RB61|O75126|Q76N27|Q9HC26	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.R365W	ENST00000258873.4	37	c.1093	CCDS10298.1	15	.	.	.	.	.	.	.	.	.	.	G	21.6	4.176231	0.78564	.	.	ENSG00000103740	ENST00000258873;ENST00000541759	T;T	0.44881	0.91;0.91	5.48	3.44	0.39384	AMP-dependent synthetase/ligase (1);	0.126462	0.49305	D	0.000160	T	0.67258	0.2874	M	0.89715	3.055	0.37854	D	0.929503	D;D	0.89917	1.0;0.998	D;D	0.70487	0.969;0.93	T	0.76780	-0.2833	10	0.72032	D	0.01	-47.3661	11.5296	0.50601	0.0:0.0:0.4437:0.5563	.	361;365	B7Z2Y6;Q96GR2	.;ACBG1_HUMAN	W	365;123	ENSP00000258873:R365W;ENSP00000439955:R123W	ENSP00000258873:R365W	R	-	1	2	ACSBG1	76260312	0.995000	0.38212	1.000000	0.80357	0.991000	0.79684	3.111000	0.50360	1.312000	0.45043	0.655000	0.94253	CGG	ACSBG1	-	pfam_AMP-dep_Synth/Lig	ENSG00000103740		0.652	ACSBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSBG1	HGNC	protein_coding	OTTHUMT00000289802.2		0.00	27	0	G	NM_015162		78473257	-1			no_errors	ENST00000258873	ensembl	human	known	74_37	missense	5.71	33	2	SNP	1.000	A
ADAM21P1	145241	genome.wustl.edu	37	14	70714087	70714087	+	RNA	SNP	T	T	G	rs79122905		TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr14:70714087T>G	ENST00000530196.1	-	0	431					NR_003951.1				ADAM metallopeptidase domain 21 pseudogene 1																		CCTCCAGGAGTGCACGCTCAT	0.507																																																	0																																												0					14q24.2	2014-03-25	2010-01-12	2010-01-12	ENSG00000235812	ENSG00000235812			19822	pseudogene	pseudogene			"""a disintegrin and metalloproteinase domain 21 pseudogene"", ""ADAM metallopeptidase domain 21 pseudogene"""	ADAM21P			Standard	NR_003951		Approved		uc010ttg.2		OTTHUMG00000166565		14.37:g.70714087T>G				RNA	SNP	-	NULL	ENST00000530196.1	37	NULL		14																																																																																			ADAM21P1	-	-	ENSG00000235812		0.507	ADAM21P1-002	KNOWN	basic	processed_transcript	ADAM21P1	HGNC	pseudogene	OTTHUMT00000390451.1		0.00	54	0	T	NG_002467		70714087	-1			no_errors	ENST00000530196	ensembl	human	known	74_37	rna	11.76	45	6	SNP	0.001	G
ADCK1	57143	genome.wustl.edu	37	14	78399575	78399575	+	Silent	SNP	G	G	A			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr14:78399575G>A	ENST00000238561.5	+	11	1512	c.1413G>A	c.(1411-1413)aaG>aaA	p.K471K	ADCK1_ENST00000556560.1_3'UTR|ADCK1_ENST00000341211.5_Silent_p.K403K	NM_020421.3	NP_065154.2	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1	478						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		ACAAGAAGAAGAATACCTGTT	0.428																																																	0													64.0	63.0	63.0					14																	78399575		2203	4300	6503	SO:0001819	synonymous_variant	0			AK096919	CCDS9869.1, CCDS45144.1	14q24	2005-10-30							19038	protein-coding gene	gene with protein product						12471243	Standard	NM_020421		Approved	FLJ39600	uc001xui.3	Q86TW2		ENST00000238561.5:c.1413G>A	14.37:g.78399575G>A			B3KUD5|Q6PD65|Q9UIE6	Silent	SNP	pfam_UbiB_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom	p.K471	ENST00000238561.5	37	c.1413	CCDS9869.1	14																																																																																			ADCK1	-	NULL	ENSG00000063761		0.428	ADCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCK1	HGNC	protein_coding	OTTHUMT00000413864.1	-	0.00	75	0	G	NM_020421		78399575	+1	tier1	-	no_errors	ENST00000238561	ensembl	human	known	74_37	silent	5.33	71	4	SNP	0.998	A
ADD3	120	genome.wustl.edu	37	10	111886193	111886193	+	Missense_Mutation	SNP	T	T	A			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr10:111886193T>A	ENST00000356080.4	+	12	1907	c.1540T>A	c.(1540-1542)Tat>Aat	p.Y514N	ADD3_ENST00000277900.8_Missense_Mutation_p.Y514N|ADD3_ENST00000360162.3_Missense_Mutation_p.Y514N	NM_016824.3	NP_058432.1	Q9UEY8	ADDG_HUMAN	adducin 3 (gamma)	514						cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	29		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)		ACAAAATCGATATGACTTGAA	0.348																																																	0													129.0	118.0	122.0					10																	111886193		2203	4300	6503	SO:0001583	missense	0			U37122	CCDS7561.1, CCDS7562.1	10q25.2	2005-11-08			ENSG00000148700	ENSG00000148700			245	protein-coding gene	gene with protein product		601568		ADDL		8893809	Standard	XM_005269529		Approved		uc001kyv.3	Q9UEY8	OTTHUMG00000019032	ENST00000356080.4:c.1540T>A	10.37:g.111886193T>A	ENSP00000348381:p.Tyr514Asn		D3DRA8|O43243|Q5VU09|Q92773|Q9UEY7	Missense_Mutation	SNP	pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N	p.Y514N	ENST00000356080.4	37	c.1540	CCDS7561.1	10	.	.	.	.	.	.	.	.	.	.	T	12.09	1.832400	0.32421	.	.	ENSG00000148700	ENST00000360162;ENST00000356080;ENST00000277900	T;T;T	0.17370	2.28;2.28;2.28	5.79	5.79	0.91817	.	0.229129	0.44285	D	0.000464	T	0.09024	0.0223	N	0.11427	0.14	0.36242	D	0.853354	P;P	0.40875	0.59;0.731	B;B	0.36922	0.222;0.236	T	0.35051	-0.9804	10	0.30078	T	0.28	-12.5683	10.4681	0.44620	0.0:0.0721:0.0:0.9279	.	514;514	Q9UEY8;Q9UEY8-2	ADDG_HUMAN;.	N	514	ENSP00000353286:Y514N;ENSP00000348381:Y514N;ENSP00000277900:Y514N	ENSP00000277900:Y514N	Y	+	1	0	ADD3	111876183	0.996000	0.38824	0.902000	0.35471	0.972000	0.66771	2.485000	0.45250	2.207000	0.71202	0.533000	0.62120	TAT	ADD3	-	NULL	ENSG00000148700		0.348	ADD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADD3	HGNC	protein_coding	OTTHUMT00000050289.1	-	0.00	79	0	T	NM_019903		111886193	+1	tier1	-	no_errors	ENST00000356080	ensembl	human	known	74_37	missense	5.26	72	4	SNP	0.675	A
ADRA1D	146	genome.wustl.edu	37	20	4228553	4228553	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr20:4228553G>A	ENST00000379453.4	-	1	1168	c.1052C>T	c.(1051-1053)gCc>gTc	p.A351V		NM_000678.3	NP_000669.1	P25100	ADA1D_HUMAN	adrenoceptor alpha 1D	351					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|DNA metabolic process (GO:0006259)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of the force of heart contraction involved in baroreceptor response to increased systemic arterial blood pressure (GO:0001986)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|positive regulation of cell proliferation (GO:0008284)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha1-adrenergic receptor activity (GO:0004937)			endometrium(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	14					Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Dapiprazole(DB00298)|Desipramine(DB01151)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Oxymetazoline(DB00935)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Xylometazoline(DB06694)	CACGACGATGGCCAGAGTCTT	0.642																																																	0													72.0	56.0	61.0					20																	4228553		2201	4300	6501	SO:0001583	missense	0			U03864	CCDS13079.1	20p13	2012-08-08	2012-05-09		ENSG00000171873	ENSG00000171873		"""GPCR / Class A : Adrenoceptors : alpha"""	280	protein-coding gene	gene with protein product		104219	"""adrenergic, alpha-1D-, receptor"""			8039425	Standard	NM_000678		Approved	ADRA1R, ADRA1A, ADRA1	uc002wkr.2	P25100	OTTHUMG00000031779	ENST00000379453.4:c.1052C>T	20.37:g.4228553G>A	ENSP00000368766:p.Ala351Val		Q9NPY0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_ADRA1D_rcpt,prints_GPCR_Rhodpsn,prints_ADR_fam,pfscan_GPCR_Rhodpsn_7TM	p.A351V	ENST00000379453.4	37	c.1052	CCDS13079.1	20	.	.	.	.	.	.	.	.	.	.	G	20.3	3.965709	0.74131	.	.	ENSG00000171873	ENST00000379453	T	0.56941	0.43	4.69	4.69	0.59074	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.63224	0.2493	L	0.38733	1.17	0.49915	D	0.999838	D	0.76494	0.999	D	0.76575	0.988	T	0.66681	-0.5862	10	0.87932	D	0	.	15.1629	0.72798	0.0:0.0:1.0:0.0	.	351	P25100	ADA1D_HUMAN	V	351	ENSP00000368766:A351V	ENSP00000368766:A351V	A	-	2	0	ADRA1D	4176553	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.567000	0.60850	2.454000	0.82982	0.563000	0.77884	GCC	ADRA1D	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000171873		0.642	ADRA1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADRA1D	HGNC	protein_coding	OTTHUMT00000077812.2		0.00	46	0	G	NM_000678		4228553	-1			no_errors	ENST00000379453	ensembl	human	known	74_37	missense	5.48	69	4	SNP	1.000	A
AEBP1	165	genome.wustl.edu	37	7	44153807	44153807	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr7:44153807G>A	ENST00000223357.3	+	21	3729	c.3424G>A	c.(3424-3426)Gca>Aca	p.A1142T	AEBP1_ENST00000450684.2_Missense_Mutation_p.A717T	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	1142	Interaction with MAPK1 and MAPK3. {ECO:0000250}.|Required for transcriptional repression. {ECO:0000250}.				cell adhesion (GO:0007155)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|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)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						CACTGGCCAGGCATTCCCCTT	0.542																																																	0													104.0	99.0	101.0					7																	44153807		2203	4300	6503	SO:0001583	missense	0			D86479	CCDS5476.1	7p	2008-07-18	2001-11-28		ENSG00000106624	ENSG00000106624			303	protein-coding gene	gene with protein product	"""aortic carboxypeptidase-like protein"", ""adipocyte enhancer binding protein 1"""	602981	"""AE-binding protein 1"""			8920928	Standard	NM_001129		Approved	ACLP	uc003tkb.4	Q8IUX7	OTTHUMG00000023362	ENST00000223357.3:c.3424G>A	7.37:g.44153807G>A	ENSP00000223357:p.Ala1142Thr		Q14113|Q59ER7|Q6ZSC7|Q7KZ79	Missense_Mutation	SNP	pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom,prints_Peptidase_M14	p.A1142T	ENST00000223357.3	37	c.3424	CCDS5476.1	7	.	.	.	.	.	.	.	.	.	.	G	17.46	3.395077	0.62066	.	.	ENSG00000106624	ENST00000223357;ENST00000450684	D;D	0.95205	-3.64;-3.1	5.08	2.06	0.26882	.	.	.	.	.	D	0.84665	0.5522	N	0.12182	0.205	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.001	T	0.68981	-0.5266	9	0.07990	T	0.79	-0.3401	6.8838	0.24189	0.156:0.1482:0.6958:0.0	.	717;1142	Q8IUX7-2;Q8IUX7	.;AEBP1_HUMAN	T	1142;717	ENSP00000223357:A1142T;ENSP00000398878:A717T	ENSP00000223357:A1142T	A	+	1	0	AEBP1	44120332	0.001000	0.12720	0.000000	0.03702	0.894000	0.52154	0.559000	0.23485	0.103000	0.17682	0.462000	0.41574	GCA	AEBP1	-	NULL	ENSG00000106624		0.542	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AEBP1	HGNC	protein_coding	OTTHUMT00000250993.2	-	0.00	31	0	G	NM_001129		44153807	+1	tier1	-	no_errors	ENST00000223357	ensembl	human	known	74_37	missense	9.30	39	4	SNP	0.001	A
AGO2	27161	genome.wustl.edu	37	8	141566294	141566294	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr8:141566294G>A	ENST00000220592.5	-	9	1230	c.1118C>T	c.(1117-1119)cCc>cTc	p.P373L	AGO2_ENST00000519980.1_Missense_Mutation_p.P373L	NM_012154.3	NP_036286.2	Q9UKV8	AGO2_HUMAN	argonaute RISC catalytic component 2	373					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|regulation of transcription, DNA-templated (GO:0006355)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|mRNA cap binding complex (GO:0005845)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|RISC complex (GO:0016442)	endoribonuclease activity (GO:0004521)|endoribonuclease activity, cleaving siRNA-paired mRNA (GO:0070551)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA 7-methylguanosine cap binding (GO:0000340)|siRNA binding (GO:0035197)|translation initiation factor activity (GO:0003743)										TTGCCGATCGGGCGCCGACCT	0.512																																																	0													107.0	100.0	103.0					8																	141566294		2203	4300	6503	SO:0001583	missense	0			AF121255	CCDS6380.1, CCDS55279.1	8q24.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000123908	ENSG00000123908		"""Argonaute/PIWI family"""	3263	protein-coding gene	gene with protein product	"""argonaute 2"""	606229	"""eukaryotic translation initiation factor 2C, 2"""	EIF2C2		10534406, 12906857	Standard	NM_012154		Approved	hAGO2, Q10	uc003yvn.3	Q9UKV8	OTTHUMG00000164232	ENST00000220592.5:c.1118C>T	8.37:g.141566294G>A	ENSP00000220592:p.Pro373Leu		Q8TCZ5|Q8WV58|Q96ID1	Missense_Mutation	SNP	pfam_Piwi,pfam_PAZ_dom,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi	p.P373L	ENST00000220592.5	37	c.1118	CCDS6380.1	8	.	.	.	.	.	.	.	.	.	.	G	29.7	5.029186	0.93518	.	.	ENSG00000123908	ENST00000220592;ENST00000519980	T;T	0.09538	2.97;2.97	5.11	5.11	0.69529	Argonaute/Dicer protein, PAZ (1);	0.000000	0.85682	D	0.000000	T	0.40886	0.1135	M	0.88842	2.985	0.80722	D	1	D;P	0.62365	0.991;0.855	D;P	0.68621	0.959;0.845	T	0.46582	-0.9181	10	0.59425	D	0.04	-8.1206	18.8995	0.92437	0.0:0.0:1.0:0.0	.	373;373	Q9UKV8-2;Q9UKV8	.;AGO2_HUMAN	L	373	ENSP00000220592:P373L;ENSP00000430176:P373L	ENSP00000220592:P373L	P	-	2	0	EIF2C2	141635476	1.000000	0.71417	0.939000	0.37840	0.925000	0.55904	9.697000	0.98697	2.548000	0.85928	0.655000	0.94253	CCC	AGO2	-	superfamily_PAZ_dom	ENSG00000123908		0.512	AGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGO2	HGNC	protein_coding	OTTHUMT00000377866.4	-	0.00	69	0	G			141566294	-1	tier1	-	no_errors	ENST00000220592	ensembl	human	known	74_37	missense	5.06	75	4	SNP	1.000	A
AHCTF1	25909	genome.wustl.edu	37	1	247040319	247040319	+	Missense_Mutation	SNP	T	T	C			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr1:247040319T>C	ENST00000391829.2	-	23	2993	c.2870A>G	c.(2869-2871)cAc>cGc	p.H957R	AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000326225.3_Missense_Mutation_p.H966R|AHCTF1_ENST00000366508.1_Missense_Mutation_p.H992R			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	957	Necessary for cytoplasmic localization. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			CTGCAAATGGTGCACTAAAAG	0.363																																					Colon(145;197 1800 4745 15099 26333)												0													86.0	80.0	82.0					1																	247040319		2203	4300	6503	SO:0001583	missense	0				CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"""ELYS transcription factor like protein TMBS62"""	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.2870A>G	1.37:g.247040319T>C	ENSP00000375705:p.His957Arg		A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Missense_Mutation	SNP	superfamily_Quinonprotein_ADH-like_supfam	p.H966R	ENST00000391829.2	37	c.2897		1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.479607	0.84747	.	.	ENSG00000153207	ENST00000366508;ENST00000326225;ENST00000391829	T;T;T	0.40756	1.02;1.02;1.02	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.62514	0.2434	M	0.63843	1.955	0.58432	D	0.999999	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.997	T	0.63875	-0.6538	10	0.54805	T	0.06	-12.4917	15.9613	0.79933	0.0:0.0:0.0:1.0	.	992;957	Q8WYP5-2;Q8WYP5	.;ELYS_HUMAN	R	992;966;957	ENSP00000355464:H992R;ENSP00000355465:H966R;ENSP00000375705:H957R	ENSP00000355465:H966R	H	-	2	0	AHCTF1	245106942	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.480000	0.66820	2.240000	0.73641	0.477000	0.44152	CAC	AHCTF1	-	NULL	ENSG00000153207		0.363	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	AHCTF1	HGNC	protein_coding		-	0.00	47	0	T	NM_015446		247040319	-1	tier1	-	no_errors	ENST00000326225	ensembl	human	known	74_37	missense	36.23	43	25	SNP	1.000	C
ALDH16A1	126133	genome.wustl.edu	37	19	49963104	49963104	+	Splice_Site	SNP	G	G	T			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr19:49963104G>T	ENST00000293350.4	+	4	661	c.498G>T	c.(496-498)atG>atT	p.M166I	CTD-3148I10.9_ENST00000599536.1_5'Flank|ALDH16A1_ENST00000433981.2_Splice_Site_p.M1I|ALDH16A1_ENST00000540132.1_Intron|ALDH16A1_ENST00000455361.2_Splice_Site_p.M166I	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	166						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		GGGAGCCCATGGGTGAGACCC	0.587																																																	0													31.0	29.0	30.0					19																	49963104		2203	4298	6501	SO:0001630	splice_region_variant	0			AY007096	CCDS12766.1, CCDS46141.1	19q13.33	2014-08-12			ENSG00000161618	ENSG00000161618		"""Aldehyde dehydrogenases"""	28114	protein-coding gene	gene with protein product		613358					Standard	NM_153329		Approved	MGC10204	uc002pnt.3	Q8IZ83	OTTHUMG00000183163	ENST00000293350.4:c.499+1G>T	19.37:g.49963104G>T			B4DLQ1|C9JBH6|Q86YF0|Q8IYL4|Q8TEI8	Missense_Mutation	SNP	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH	p.M166I	ENST00000293350.4	37	c.498	CCDS12766.1	19	.	.	.	.	.	.	.	.	.	.	G	13.45	2.241890	0.39598	.	.	ENSG00000161618	ENST00000293350;ENST00000455361;ENST00000433981	T;T;T	0.26957	1.7;1.7;1.7	5.38	2.91	0.33838	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.523762	0.22576	N	0.058277	T	0.08492	0.0211	N	0.00926	-1.1	0.53688	D	0.99997	B;B	0.10296	0.003;0.002	B;B	0.12156	0.007;0.006	T	0.10291	-1.0636	10	0.40728	T	0.16	-9.6641	9.1807	0.37141	0.1807:0.0:0.8193:0.0	.	166;166	B4DLQ1;Q8IZ83	.;A16A1_HUMAN	I	166;166;1	ENSP00000293350:M166I;ENSP00000410142:M166I;ENSP00000398675:M1I	ENSP00000293350:M166I	M	+	3	0	ALDH16A1	54654916	0.999000	0.42202	1.000000	0.80357	0.939000	0.58152	1.127000	0.31357	1.237000	0.43756	0.585000	0.79938	ATG	ALDH16A1	-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH	ENSG00000161618		0.587	ALDH16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH16A1	HGNC	protein_coding	OTTHUMT00000465358.1	-	0.00	80	0	G	NM_153329	Missense_Mutation	49963104	+1	tier1	-	no_errors	ENST00000293350	ensembl	human	known	74_37	missense	87.72	7	50	SNP	0.997	T
ALG5	29880	genome.wustl.edu	37	13	37563639	37563639	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr13:37563639delT	ENST00000239891.3	-	5	495	c.429delA	c.(427-429)aaafs	p.K143fs	ALG5_ENST00000443765.1_Frame_Shift_Del_p.K113fs|ALG5_ENST00000413537.2_Frame_Shift_Del_p.K143fs|ALG5_ENST00000496689.1_5'UTR	NM_013338.4	NP_037470.1	Q9Y673	ALG5_HUMAN	ALG5, dolichyl-phosphate beta-glucosyltransferase	143					cellular protein metabolic process (GO:0044267)|determination of left/right symmetry (GO:0007368)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	dolichyl-phosphate beta-glucosyltransferase activity (GO:0004581)|oligosaccharyl transferase activity (GO:0004576)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)		all cancers(112;5.79e-07)|Epithelial(112;1.81e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00785)|BRCA - Breast invasive adenocarcinoma(63;0.0127)|GBM - Glioblastoma multiforme(144;0.0472)		TCGCTCCACCTTTTCCACGAT	0.318																																																	0													106.0	100.0	102.0					13																	37563639		2203	4300	6503	SO:0001589	frameshift_variant	0			AF088028	CCDS9361.1, CCDS45033.1	13q13.1	2013-02-22	2013-02-21		ENSG00000120697	ENSG00000120697	2.4.1.117	"""Glycosyltransferase family 2 domain containing"""	20266	protein-coding gene	gene with protein product		604565	"""asparagine-linked glycosylation 5 homolog (yeast, dolichyl-phosphate beta-glucosyltransferase)"", ""asparagine-linked glycosylation 5, dolichyl-phosphate beta-glucosyltransferase homolog (S. cerevisiae)"""			10359825	Standard	NM_013338		Approved	bA421P11.2	uc001uvy.3	Q9Y673	OTTHUMG00000016741	ENST00000239891.3:c.429delA	13.37:g.37563639delT	ENSP00000239891:p.Lys143fs		B4DR37|Q5TBA6	Frame_Shift_Del	DEL	pfam_Glyco_trans_2	p.G144fs	ENST00000239891.3	37	c.429	CCDS9361.1	13																																																																																			ALG5	-	pfam_Glyco_trans_2	ENSG00000120697		0.318	ALG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALG5	HGNC	protein_coding	OTTHUMT00000044528.2		0.00	43	0	T	NM_013338		37563639	-1	tier1		no_errors	ENST00000239891	ensembl	human	known	74_37	frame_shift_del	8.57	32	3	DEL	1.000	-
AMBRA1	55626	genome.wustl.edu	37	11	46563567	46563567	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr11:46563567G>T	ENST00000458649.2	-	7	2418	c.2000C>A	c.(1999-2001)tCt>tAt	p.S667Y	AMBRA1_ENST00000426438.1_Missense_Mutation_p.S667Y|AMBRA1_ENST00000533727.1_Missense_Mutation_p.S577Y|AMBRA1_ENST00000528950.1_Missense_Mutation_p.S667Y|AMBRA1_ENST00000298834.3_Missense_Mutation_p.S667Y|AMBRA1_ENST00000314845.3_Missense_Mutation_p.S577Y|AMBRA1_ENST00000534300.1_Missense_Mutation_p.S667Y			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	667					autophagy (GO:0006914)|cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neural tube development (GO:0021915)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|phagocytic vesicle (GO:0045335)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		CACAGTTCCAGATCTGCTGGA	0.537																																																	0													102.0	94.0	97.0					11																	46563567		2201	4299	6500	SO:0001583	missense	0			AB051523	CCDS31475.1, CCDS58132.1, CCDS73281.1	11p11.2	2013-01-09			ENSG00000110497	ENSG00000110497		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	25990	protein-coding gene	gene with protein product	"""WD repeat domain 94"", ""DDB1 and CUL4 associated factor 3"""	611359				17622796, 17603510, 17589504	Standard	NM_001267782		Approved	FLJ20294, KIAA1736, WDR94, DCAF3	uc001ncv.3	Q9C0C7	OTTHUMG00000166500	ENST00000458649.2:c.2000C>A	11.37:g.46563567G>T	ENSP00000415327:p.Ser667Tyr		A6XN33|D3DQP8|G3V193|Q86XD6|Q9H8Z0|Q9NXE7	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S667Y	ENST00000458649.2	37	c.2000		11	.	.	.	.	.	.	.	.	.	.	G	12.73	2.026984	0.35797	.	.	ENSG00000110497	ENST00000314845;ENST00000533727;ENST00000534300;ENST00000426438;ENST00000298834;ENST00000314823;ENST00000458649;ENST00000528950	D;T;D;T;D;D;T	0.90788	-2.73;-0.68;-2.73;-0.35;-2.73;-2.73;-0.35	5.79	5.79	0.91817	.	0.487206	0.23712	N	0.045312	D	0.87099	0.6093	N	0.19112	0.55	0.35236	D	0.777391	P;B;B;P;P;B	0.44877	0.845;0.32;0.32;0.545;0.786;0.32	B;B;B;B;B;B	0.43251	0.185;0.351;0.351;0.351;0.413;0.351	D	0.90900	0.4768	10	0.72032	D	0.01	.	20.0473	0.97613	0.0:0.0:1.0:0.0	.	667;667;667;577;577;577	Q9C0C7;Q9C0C7-3;Q9C0C7-2;G3V193;Q9C0C7-5;Q9C0C7-4	AMRA1_HUMAN;.;.;.;.;.	Y	577;577;667;667;667;577;667;667	ENSP00000318313:S577Y;ENSP00000433372:S577Y;ENSP00000431926:S667Y;ENSP00000410899:S667Y;ENSP00000298834:S667Y;ENSP00000415327:S667Y;ENSP00000433945:S667Y	ENSP00000298834:S667Y	S	-	2	0	AMBRA1	46520143	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.022000	0.70839	2.722000	0.93159	0.655000	0.94253	TCT	AMBRA1	-	NULL	ENSG00000110497		0.537	AMBRA1-005	KNOWN	basic	protein_coding	AMBRA1	HGNC	protein_coding	OTTHUMT00000390103.1	-	0.00	56	0	G	NM_017749		46563567	-1	tier1	-	no_errors	ENST00000458649	ensembl	human	known	74_37	missense	8.51	43	4	SNP	1.000	T
AMOTL2	51421	genome.wustl.edu	37	3	134079164	134079164	+	Missense_Mutation	SNP	T	T	C			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr3:134079164T>C	ENST00000422605.2	-	7	1833	c.1667A>G	c.(1666-1668)gAg>gGg	p.E556G	AMOTL2_ENST00000513145.1_Missense_Mutation_p.E554G|AMOTL2_ENST00000249883.5_Missense_Mutation_p.E556G|AMOTL2_ENST00000514516.1_Missense_Mutation_p.E614G			Q9Y2J4	AMOL2_HUMAN	angiomotin like 2	556					hippo signaling (GO:0035329)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|tight junction (GO:0005923)				endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						GATCTGCTCCTCCTTCTCTCG	0.612																																																	0													102.0	79.0	87.0					3																	134079164		2203	4300	6503	SO:0001583	missense	0			AF175966	CCDS33860.1, CCDS63783.1, CCDS63784.1	3q21-q22	2008-07-18			ENSG00000114019	ENSG00000114019			17812	protein-coding gene	gene with protein product	"""Leman coiled-coil protein"", ""angiomotin-like protein 2"""	614658					Standard	NM_016201		Approved	LCCP	uc003eqg.1	Q9Y2J4	OTTHUMG00000159777	ENST00000422605.2:c.1667A>G	3.37:g.134079164T>C	ENSP00000409999:p.Glu556Gly		A8K6F1|B7Z5Q1|E9PHW3|Q53EP1|Q96F99|Q9UKB4	Missense_Mutation	SNP	pfam_Angiomotin_C,prints_Angiomotin	p.E556G	ENST00000422605.2	37	c.1667		3	.	.	.	.	.	.	.	.	.	.	T	28.9	4.957633	0.92726	.	.	ENSG00000114019	ENST00000249883;ENST00000422605;ENST00000514516;ENST00000513145	T;T;T;T	0.31247	1.5;1.52;1.56;1.66	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.58119	0.2100	M	0.81497	2.545	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.63207	-0.6689	10	0.56958	D	0.05	-14.108	15.1114	0.72359	0.0:0.0:0.0:1.0	.	554;556;614	Q9Y2J4-3;Q9Y2J4-2;E9PHW3	.;.;.	G	556;556;614;554	ENSP00000249883:E556G;ENSP00000409999:E556G;ENSP00000424765:E614G;ENSP00000425475:E554G	ENSP00000249883:E556G	E	-	2	0	AMOTL2	135561854	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.991000	0.88244	1.957000	0.56846	0.459000	0.35465	GAG	AMOTL2	-	pfam_Angiomotin_C	ENSG00000114019		0.612	AMOTL2-014	KNOWN	basic|appris_candidate_longest	protein_coding	AMOTL2	HGNC	protein_coding	OTTHUMT00000358149.1	-	0.00	62	0	T	NM_016201		134079164	-1	tier1	-	no_errors	ENST00000249883	ensembl	human	known	74_37	missense	36.54	33	19	SNP	1.000	C
ANGPT4	51378	genome.wustl.edu	37	20	853726	853726	+	Silent	SNP	G	G	A	rs375636235		TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr20:853726G>A	ENST00000381922.3	-	9	1491	c.1389C>T	c.(1387-1389)aaC>aaT	p.N463N	ANGPT4_ENST00000546022.1_3'UTR	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	463	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to hypoxia (GO:0071456)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)	p.N463N(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						AGTAGACGCCGTTGAGGTTTG	0.612																																					Pancreas(181;481 2077 3259 31286 49856)												1	Substitution - coding silent(1)	large_intestine(1)						G		1,4405	2.1+/-5.4	0,1,2202	84.0	76.0	79.0		1389	-8.8	0.3	20		79	0,8600		0,0,4300	no	coding-synonymous	ANGPT4	NM_015985.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		463/504	853726	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AF074332	CCDS13009.1	20p13	2013-02-06			ENSG00000101280	ENSG00000101280		"""Fibrinogen C domain containing"""	487	protein-coding gene	gene with protein product		603705				10051567, 10218486	Standard	NM_015985		Approved		uc002wei.3	Q9Y264	OTTHUMG00000031652	ENST00000381922.3:c.1389C>T	20.37:g.853726G>A			B4E3J9|Q5TFF4|Q9H4Z4	Silent	SNP	pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom	p.N463	ENST00000381922.3	37	c.1389	CCDS13009.1	20																																																																																			ANGPT4	-	pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom	ENSG00000101280		0.612	ANGPT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANGPT4	HGNC	protein_coding	OTTHUMT00000077493.1	-	0.00	35	0	G	NM_015985		853726	-1	tier1	-	no_errors	ENST00000381922	ensembl	human	known	74_37	silent	32.08	36	17	SNP	0.183	A
ANKFY1	51479	genome.wustl.edu	37	17	4098337	4098337	+	Missense_Mutation	SNP	C	C	A			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr17:4098337C>A	ENST00000341657.4	-	10	1343	c.1308G>T	c.(1306-1308)gaG>gaT	p.E436D	Y_RNA_ENST00000384660.1_RNA|ANKFY1_ENST00000574367.1_Missense_Mutation_p.E436D|ANKFY1_ENST00000570535.1_Missense_Mutation_p.E478D|ANKFY1_ENST00000433651.1_Missense_Mutation_p.E436D	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	436					endosomal vesicle fusion (GO:0034058)|endosome localization (GO:0032439)|Golgi to lysosome transport (GO:0090160)|positive regulation of pinocytosis (GO:0048549)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|macropinosome (GO:0044354)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol phosphate binding (GO:1901981)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						CAAAGCTGTTCTCATCAAATG	0.587																																																	0													57.0	61.0	60.0					17																	4098337		2112	4254	6366	SO:0001583	missense	0			AB033081	CCDS42236.1, CCDS58502.1	17p13.3	2013-01-10			ENSG00000185722	ENSG00000185722		"""Zinc fingers, FYVE domain containing"", ""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	20763	protein-coding gene	gene with protein product		607927				10940552, 17273843	Standard	NM_016376		Approved	ANKHZN, KIAA1255, ZFYVE14, BTBD23	uc002fxn.3	Q9P2R3	OTTHUMG00000177727	ENST00000341657.4:c.1308G>T	17.37:g.4098337C>A	ENSP00000343362:p.Glu436Asp		A8KA65|Q5RKV4|Q9ULG5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Znf_FYVE,pfam_BTB_POZ,superfamily_Ankyrin_rpt-contain_dom,superfamily_BTB/POZ_fold,superfamily_Znf_FYVE_PHD,smart_BTB/POZ-like,smart_Ankyrin_rpt,smart_Znf_FYVE,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like,pfscan_Znf_FYVE-rel,prints_Ankyrin_rpt	p.E478D	ENST00000341657.4	37	c.1434		17	.	.	.	.	.	.	.	.	.	.	C	15.85	2.955811	0.53293	.	.	ENSG00000185722	ENST00000341657;ENST00000535427;ENST00000433651	T;T	0.52057	0.91;0.68	5.58	-3.39	0.04868	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.33702	0.0872	N	0.02391	-0.57	0.50313	D	0.999867	D;B;B;B;B	0.67145	0.996;0.008;0.0;0.0;0.002	D;B;B;B;B	0.76071	0.987;0.038;0.001;0.002;0.004	T	0.32534	-0.9903	10	0.10636	T	0.68	-20.8303	13.8274	0.63359	0.0:0.6057:0.0:0.3943	.	377;436;436;436;478	F5H754;Q9P2R3-3;Q9P2R3;Q9P2R3-2;Q9P2R3-4	.;.;ANFY1_HUMAN;.;.	D	436;377;436	ENSP00000343362:E436D;ENSP00000416005:E436D	ENSP00000343362:E436D	E	-	3	2	ANKFY1	4045086	0.487000	0.25988	0.991000	0.47740	0.995000	0.86356	-0.202000	0.09451	-0.371000	0.08004	-0.290000	0.09829	GAG	ANKFY1	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000185722		0.587	ANKFY1-008	KNOWN	basic|appris_candidate	protein_coding	ANKFY1	HGNC	protein_coding	OTTHUMT00000438702.1	-	0.00	36	0	C	NM_016376		4098337	-1	tier1	-	no_errors	ENST00000570535	ensembl	human	known	74_37	missense	77.78	4	14	SNP	0.996	A
ANKRD30B	374860	genome.wustl.edu	37	18	14764088	14764088	+	Splice_Site	SNP	T	T	C			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr18:14764088T>C	ENST00000358984.4	+	7	1404	c.1224T>C	c.(1222-1224)aaT>aaC	p.N408N	ANKRD30B_ENST00000579292.1_Intron|ANKRD30B_ENST00000447268.2_Splice_Site_p.N408N	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	408										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						CAAGTACAAATGGTAAGATGC	0.368																																																	0													11.0	9.0	10.0					18																	14764088		691	1589	2280	SO:0001630	splice_region_variant	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.1225+1T>C	18.37:g.14764088T>C			B4DGP1|F8WAG3|Q4G175	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.N408	ENST00000358984.4	37	c.1224	CCDS54182.1	18																																																																																			ANKRD30B	-	NULL	ENSG00000180777		0.368	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD30B	HGNC	protein_coding	OTTHUMT00000443557.1	-	0.00	36	0	T	NM_001145029	Silent	14764088	+1	tier1	-	no_errors	ENST00000358984	ensembl	human	known	74_37	silent	30.77	27	12	SNP	0.004	C
ARPP21	10777	genome.wustl.edu	37	3	35750536	35750536	+	Missense_Mutation	SNP	G	G	C			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr3:35750536G>C	ENST00000187397.4	+	11	1327	c.871G>C	c.(871-873)Gtg>Ctg	p.V291L	ARPP21_ENST00000417925.1_Intron|ARPP21_ENST00000337271.5_Intron|ARPP21_ENST00000458225.1_Intron|ARPP21_ENST00000444190.1_Intron	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	291	SUZ. {ECO:0000255|PROSITE- ProRule:PRU01009}.				cellular response to heat (GO:0034605)	cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						ATATCAGAGAGTGAGGGAGAG	0.413																																																	0													174.0	173.0	174.0					3																	35750536		2203	4300	6503	SO:0001583	missense	0			AA733082	CCDS2661.1, CCDS43063.1, CCDS58823.1, CCDS58824.1	3p24.3	2010-08-12			ENSG00000172995	ENSG00000172995			16968	protein-coding gene	gene with protein product	"""R3H domain containing 3"""	605488				8120638	Standard	NM_198399		Approved	ARPP-21, TARPP, R3HDM3	uc011axy.2	Q9UBL0	OTTHUMG00000130795	ENST00000187397.4:c.871G>C	3.37:g.35750536G>C	ENSP00000187397:p.Val291Leu		B4DG96|Q49AK3|Q49AS6|Q4G0V4|Q6NYC3|Q86V31|Q9UF93	Missense_Mutation	SNP	pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd	p.V291L	ENST00000187397.4	37	c.871	CCDS2661.1	3	.	.	.	.	.	.	.	.	.	.	G	29.5	5.012714	0.93346	.	.	ENSG00000172995	ENST00000187397	T	0.44482	0.92	5.94	5.94	0.96194	SUZ domain (1);	0.181927	0.35805	N	0.002978	T	0.61286	0.2335	L	0.50333	1.59	0.80722	D	1	D	0.67145	0.996	D	0.66847	0.947	T	0.60439	-0.7263	10	0.87932	D	0	.	20.4127	0.99019	0.0:0.0:1.0:0.0	.	291	Q9UBL0	ARP21_HUMAN	L	291	ENSP00000187397:V291L	ENSP00000187397:V291L	V	+	1	0	ARPP21	35725540	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.755000	0.91646	2.829000	0.97493	0.579000	0.79373	GTG	ARPP21	-	NULL	ENSG00000172995		0.413	ARPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARPP21	HGNC	protein_coding	OTTHUMT00000253334.2	-	0.00	30	0	G	NM_198399		35750536	+1	tier1	-	no_errors	ENST00000187397	ensembl	human	known	74_37	missense	34.48	19	10	SNP	1.000	C
ARHGEF3	50650	genome.wustl.edu	37	3	57041294	57041294	+	Intron	SNP	T	T	G			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr3:57041294T>G	ENST00000338458.4	-	2	172					NM_001128615.1	NP_001122087.1	Q9NR81	ARHG3_HUMAN	Rho guanine nucleotide exchange factor (GEF) 3						apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|intracellular (GO:0005622)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	25				KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)		AAATCAGACTTTCTCAATAGC	0.458																																																	0																																										SO:0001627	intron_variant	0			AB209661	CCDS2878.1, CCDS46854.1, CCDS46855.1, CCDS74948.1	3p14.3	2012-09-20			ENSG00000163947	ENSG00000163947		"""Rho guanine nucleotide exchange factors"""	683	protein-coding gene	gene with protein product	"""exchange factor found in platelets and leukemic and neuronal tissues, XPLN"", ""RhoGEF protein"""	612115				10873612	Standard	NM_019555		Approved	STA3, XPLN, GEF3, DKFZP434F2429	uc003dih.2	Q9NR81	OTTHUMG00000158857	ENST00000338458.4:c.62+27821A>C	3.37:g.57041294T>G			A8K5U7|Q4FZB6|Q4QQI5|Q4QQQ0|Q59F00|Q6NUN3|Q7Z4U2|Q7Z5T2|Q9H7T4	Missense_Mutation	SNP	NULL	p.K45Q	ENST00000338458.4	37	c.133	CCDS46854.1	3																																																																																			ARHGEF3	-	NULL	ENSG00000163947		0.458	ARHGEF3-002	KNOWN	basic|CCDS	protein_coding	ARHGEF3	HGNC	protein_coding	OTTHUMT00000352432.2	-	0.00	64	0	T	NM_019555		57041294	-1	tier1	-	no_errors	ENST00000477833	ensembl	human	known	74_37	missense	34.62	34	18	SNP	0.181	G
ANKUB1	389161	genome.wustl.edu	37	3	149488371	149488371	+	Missense_Mutation	SNP	A	A	G			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr3:149488371A>G	ENST00000383050.3	-	4	998	c.542T>C	c.(541-543)tTa>tCa	p.L181S	ANKUB1_ENST00000462519.2_Missense_Mutation_p.L181S|ANKUB1_ENST00000446160.1_Missense_Mutation_p.L181S			A6NFN9	ANKUB_HUMAN	ankyrin repeat and ubiquitin domain containing 1	181										breast(1)|kidney(1)|lung(1)|skin(1)	4						TTCTTTTGATAAGTAGCGTTG	0.393																																																	0													183.0	159.0	166.0					3																	149488371		692	1591	2283	SO:0001583	missense	0			AK027233		3q25.1	2013-01-11	2011-05-10	2011-05-10	ENSG00000206199	ENSG00000206199		"""Ankyrin repeat domain containing"""	29642	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 16"""	C3orf16			Standard	NM_001144960		Approved		uc003exl.3	A6NFN9	OTTHUMG00000159615	ENST00000383050.3:c.542T>C	3.37:g.149488371A>G	ENSP00000372522:p.Leu181Ser		B4E2N8	Missense_Mutation	SNP	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ubiquitin_supergroup	p.L181S	ENST00000383050.3	37	c.542		3	.	.	.	.	.	.	.	.	.	.	A	17.97	3.518640	0.64634	.	.	ENSG00000206199	ENST00000446160;ENST00000383050;ENST00000462519	T;T;T	0.44083	0.93;0.93;0.93	5.47	5.47	0.80525	Ankyrin repeat-containing domain (2);	0.117044	0.32970	N	0.005428	T	0.61862	0.2381	M	0.64997	1.995	0.32148	N	0.584556	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	T	0.71241	-0.4651	10	0.66056	D	0.02	-14.4118	14.5308	0.67923	1.0:0.0:0.0:0.0	.	181;181	A6NFN9;E9PHT4	ANKUB_HUMAN;.	S	181	ENSP00000387907:L181S;ENSP00000372522:L181S;ENSP00000417635:L181S	ENSP00000372522:L181S	L	-	2	0	ANKUB1	150971061	1.000000	0.71417	1.000000	0.80357	0.558000	0.35554	6.374000	0.73132	2.080000	0.62538	0.454000	0.30748	TTA	ANKUB1	-	superfamily_Ankyrin_rpt-contain_dom	ENSG00000206199		0.393	ANKUB1-201	KNOWN	basic	protein_coding	ANKUB1	HGNC	protein_coding		-	0.00	65	0	A	NM_001144960		149488371	-1	tier1	-	no_errors	ENST00000446160	ensembl	human	known	74_37	missense	6.56	57	4	SNP	1.000	G
ARRDC4	91947	genome.wustl.edu	37	15	98504124	98504124	+	Frame_Shift_Del	DEL	G	G	-			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr15:98504124delG	ENST00000268042.6	+	1	197	c.33delG	c.(31-33)gtgfs	p.V11fs	ARRDC4_ENST00000538249.1_Intron	NM_183376.2	NP_899232.2	Q8NCT1	ARRD4_HUMAN	arrestin domain containing 4	11					positive regulation of ubiquitin-protein transferase activity (GO:0051443)	endosome (GO:0005768)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|skin(3)	16	Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222)		OV - Ovarian serous cystadenocarcinoma(32;0.0417)			CGGCGGCCGTGGGTGCCGAGG	0.736																																																	0													9.0	7.0	8.0					15																	98504124		1842	3649	5491	SO:0001589	frameshift_variant	0			BC028704	CCDS10377.1	15q26.2	2005-08-16			ENSG00000140450	ENSG00000140450			28087	protein-coding gene	gene with protein product						12477932	Standard	NM_183376		Approved	FLJ36045	uc010bom.3	Q8NCT1	OTTHUMG00000149849	ENST00000268042.6:c.33delG	15.37:g.98504124delG	ENSP00000268042:p.Val11fs		Q6NSI9	Frame_Shift_Del	DEL	pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set	p.G12fs	ENST00000268042.6	37	c.33	CCDS10377.1	15																																																																																			ARRDC4	-	NULL	ENSG00000140450		0.736	ARRDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARRDC4	HGNC	protein_coding	OTTHUMT00000313535.1		0.00	29	0	G	NM_183376		98504124	+1	tier1		no_errors	ENST00000268042	ensembl	human	known	74_37	frame_shift_del	14.29	24	4	DEL	0.662	-
ASXL3	80816	genome.wustl.edu	37	18	31325003	31325003	+	Missense_Mutation	SNP	C	C	A			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr18:31325003C>A	ENST00000269197.5	+	12	5191	c.5191C>A	c.(5191-5193)Cct>Act	p.P1731T		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	1731					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(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GAAGAGAGTCCCTGGTGCAGG	0.527																																																	0													72.0	75.0	74.0					18																	31325003		2028	4191	6219	SO:0001583	missense	0			AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.5191C>A	18.37:g.31325003C>A	ENSP00000269197:p.Pro1731Thr		Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	superfamily_Znf_FYVE_PHD	p.P1731T	ENST00000269197.5	37	c.5191	CCDS45847.1	18	.	.	.	.	.	.	.	.	.	.	C	0.184	-1.059878	0.01950	.	.	ENSG00000141431	ENST00000269197	T	0.14766	2.48	5.86	4.94	0.65067	.	.	.	.	.	T	0.08670	0.0215	N	0.17082	0.46	0.28474	N	0.915297	B	0.21071	0.051	B	0.14023	0.01	T	0.10154	-1.0642	9	0.30854	T	0.27	.	8.9544	0.35809	0.2801:0.6008:0.1191:0.0	.	1731	Q9C0F0	ASXL3_HUMAN	T	1731	ENSP00000269197:P1731T	ENSP00000269197:P1731T	P	+	1	0	ASXL3	29579001	0.015000	0.18098	0.177000	0.23020	0.008000	0.06430	0.561000	0.23515	2.775000	0.95449	0.655000	0.94253	CCT	ASXL3	-	NULL	ENSG00000141431		0.527	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ASXL3	HGNC	protein_coding	OTTHUMT00000441865.2	-	0.00	31	0	C			31325003	+1	tier1	-	no_errors	ENST00000269197	ensembl	human	known	74_37	missense	37.50	35	21	SNP	0.552	A
ATG2A	23130	genome.wustl.edu	37	11	64678099	64678099	+	Missense_Mutation	SNP	G	G	A	rs140600460		TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr11:64678099G>A	ENST00000377264.3	-	12	1808	c.1696C>T	c.(1696-1698)Cgt>Tgt	p.R566C	ATG2A_ENST00000421419.2_Missense_Mutation_p.R566C	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	566					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						TTAGGCACACGGCGCAGGATC	0.687																																																	0								G	CYS/ARG	1,4395		0,1,2197	56.0	52.0	53.0		1696	3.0	0.7	11	dbSNP_134	53	0,8586		0,0,4293	no	missense	ATG2A	NM_015104.2	180	0,1,6490	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	566/1939	64678099	1,12981	2198	4293	6491	SO:0001583	missense	0				CCDS31602.1	11q13.1	2014-02-12	2012-06-06		ENSG00000110046	ENSG00000110046			29028	protein-coding gene	gene with protein product			"""ATG2 autophagy related 2 homolog A (S. cerevisiae)"""			21887408	Standard	NM_015104		Approved	KIAA0404	uc001obx.3	Q2TAZ0	OTTHUMG00000066831	ENST00000377264.3:c.1696C>T	11.37:g.64678099G>A	ENSP00000366475:p.Arg566Cys		O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Missense_Mutation	SNP	pfam_Autophagy-rel_C	p.R566C	ENST00000377264.3	37	c.1696	CCDS31602.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.93|17.93	3.508198|3.508198	0.64410|0.64410	2.27E-4|2.27E-4	0.0|0.0	ENSG00000110046|ENSG00000110046	ENST00000418259|ENST00000421419;ENST00000377264	.|T;T	.|0.07800	.|3.16;3.16	4.97|4.97	3.05|3.05	0.35203|0.35203	.|.	.|0.210689	.|0.39475	.|N	.|0.001359	T|T	0.11965|0.11965	0.0291|0.0291	L|L	0.53249|0.53249	1.67|1.67	0.38270|0.38270	D|D	0.942135|0.942135	.|D	.|0.67145	.|0.996	.|P	.|0.47528	.|0.549	T|T	0.07309|0.07309	-1.0779|-1.0779	5|10	.|0.46703	.|T	.|0.11	.|.	10.6036|10.6036	0.45381|0.45381	0.0:0.0:0.6504:0.3496|0.0:0.0:0.6504:0.3496	.|.	.|566	.|Q2TAZ0	.|ATG2A_HUMAN	L|C	367|566	.|ENSP00000410522:R566C;ENSP00000366475:R566C	.|ENSP00000366475:R566C	P|R	-|-	2|1	0|0	ATG2A|ATG2A	64434675|64434675	0.994000|0.994000	0.37717|0.37717	0.703000|0.703000	0.30354|0.30354	0.797000|0.797000	0.45037|0.45037	2.270000|2.270000	0.43355|0.43355	0.577000|0.577000	0.29470|0.29470	0.462000|0.462000	0.41574|0.41574	CCG|CGT	ATG2A	-	NULL	ENSG00000110046		0.687	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ATG2A	HGNC	protein_coding	OTTHUMT00000143224.1	-	0.00	69	0	G	NM_015104		64678099	-1	tier1	rs140600460	no_errors	ENST00000421419	ensembl	human	known	74_37	missense	32.11	73	35	SNP	0.964	A
ATP2B3	492	genome.wustl.edu	37	X	152835148	152835148	+	Intron	SNP	G	G	A			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chrX:152835148G>A	ENST00000349466.2	+	20	3668				ATP2B3_ENST00000370186.1_Missense_Mutation_p.V1130I|ATP2B3_ENST00000359149.3_Missense_Mutation_p.V1144I|ATP2B3_ENST00000370181.2_Missense_Mutation_p.V1130I|ATP2B3_ENST00000263519.4_Intron|ATP2B3_ENST00000393842.1_Missense_Mutation_p.V1130I			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3						blood coagulation (GO:0007596)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)	p.V1144I(1)		NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCTTCATGACGTAACCAATCT	0.522																																																	1	Substitution - Missense(1)	endometrium(1)											304.0	245.0	265.0					X																	152835148		2203	4300	6503	SO:0001627	intron_variant	0			U60414	CCDS14722.1, CCDS35440.1	Xq28	2014-07-18			ENSG00000067842	ENSG00000067842	3.6.3.8	"""ATPases / P-type"""	816	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 3"", ""cilia and flagella associated protein 39"""	300014	"""spinocerebellar ataxia, X-linked 1"", ""cerebellar ataxia 2 (X-linked)"""	SCAX1, CLA2		8187550, 22912398	Standard	NM_021949		Approved	PMCA3, CFAP39	uc004fht.1	Q16720	OTTHUMG00000024202	ENST00000349466.2:c.3342+4587G>A	X.37:g.152835148G>A			B7WNR8|B7WNY5|Q12995|Q16858	Splice_Site	SNP	-	NULL	ENST00000349466.2	37	c.NULL	CCDS35440.1	X	.	.	.	.	.	.	.	.	.	.	G	21.0	4.083176	0.76642	.	.	ENSG00000067842	ENST00000370186;ENST00000393842;ENST00000359149;ENST00000370181	T;T;T;T	0.76709	-1.04;-1.04;-1.04;-1.04	5.2	5.2	0.72013	.	.	.	.	.	D	0.83394	0.5245	.	.	.	0.37353	D	0.910872	D;B	0.69078	0.997;0.003	P;B	0.58210	0.835;0.002	D	0.83999	0.0342	8	0.27785	T	0.31	.	16.635	0.85050	0.0:0.0:1.0:0.0	.	1130;1144	Q16720-3;Q16720-2	.;.	I	1130;1130;1144;1130	ENSP00000359205:V1130I;ENSP00000377425:V1130I;ENSP00000352062:V1144I;ENSP00000359200:V1130I	ENSP00000352062:V1144I	V	+	1	0	ATP2B3	152488342	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.787000	0.85759	2.187000	0.69744	0.460000	0.39030	GTA	ATP2B3	-	-	ENSG00000067842		0.522	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP2B3	HGNC	protein_coding	OTTHUMT00000060957.1	-	0.00	34	0	G	NM_021949		152835148	+1	tier1	-	no_errors	ENST00000496610	ensembl	human	known	74_37	splice_site	87.88	4	29	SNP	1.000	A
BIRC6	57448	genome.wustl.edu	37	2	32640482	32640482	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr2:32640482C>T	ENST00000421745.2	+	10	2257	c.2123C>T	c.(2122-2124)tCt>tTt	p.S708F		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	708					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					AAGTGGAACTCTGTGTTTCCC	0.478																																					Pancreas(94;175 1509 16028 18060 45422)												0													75.0	71.0	72.0					2																	32640482		2203	4300	6503	SO:0001583	missense	0			AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.2123C>T	2.37:g.32640482C>T	ENSP00000393596:p.Ser708Phe		Q9ULD1	Missense_Mutation	SNP	pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2	p.S708F	ENST00000421745.2	37	c.2123	CCDS33175.2	2	.	.	.	.	.	.	.	.	.	.	C	23.0	4.357841	0.82243	.	.	ENSG00000115760	ENST00000421745	T	0.76709	-1.04	5.65	5.65	0.86999	.	0.059997	0.64402	D	0.000002	T	0.70116	0.3187	N	0.19112	0.55	0.58432	D	0.999999	B	0.28512	0.214	B	0.31016	0.123	T	0.68914	-0.5283	10	0.72032	D	0.01	.	20.1057	0.97893	0.0:1.0:0.0:0.0	.	708	Q9NR09	BIRC6_HUMAN	F	708	ENSP00000393596:S708F	ENSP00000393596:S708F	S	+	2	0	BIRC6	32493986	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.536000	0.82023	2.827000	0.97445	0.650000	0.86243	TCT	BIRC6	-	NULL	ENSG00000115760		0.478	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BIRC6	HGNC	protein_coding	OTTHUMT00000318769.3	-	0.00	40	0	C	NM_016252		32640482	+1	tier1	-	no_errors	ENST00000421745	ensembl	human	known	74_37	missense	27.78	39	15	SNP	1.000	T
BARD1	580	genome.wustl.edu	37	2	215646099	215646099	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr2:215646099G>T	ENST00000260947.4	-	4	633	c.499C>A	c.(499-501)Cct>Act	p.P167T	BARD1_ENST00000449967.2_Missense_Mutation_p.P23T|BARD1_ENST00000471787.1_5'UTR	NM_000465.2|NM_001282543.1|NM_001282545.1|NM_001282548.1	NP_000456.2|NP_001269472.1|NP_001269474.1|NP_001269477.1	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	167					cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mRNA 3'-end processing (GO:0031441)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein catabolic process (GO:0045732)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of phosphorylation (GO:0042325)|tissue homeostasis (GO:0001894)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	kinase binding (GO:0019900)|ligase activity (GO:0016874)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TTTATTGCAGGCTGGGTTTGC	0.403									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																																								0													102.0	102.0	102.0					2																	215646099		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease		CCDS2397.1, CCDS74645.1, CCDS74646.1, CCDS74647.1, CCDS74648.1	2q34-q35	2013-01-10			ENSG00000138376	ENSG00000138376		"""Ankyrin repeat domain containing"""	952	protein-coding gene	gene with protein product		601593				8944023, 9425226, 15159397	Standard	NM_001282548		Approved		uc002veu.2	Q99728	OTTHUMG00000133016	ENST00000260947.4:c.499C>A	2.37:g.215646099G>T	ENSP00000260947:p.Pro167Thr		F6MDH7|F6MDH8|F6MDH9|O43574|Q53SS5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_BRCT_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_BRCT_dom,smart_Ankyrin_rpt,smart_BRCT_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BRCT_dom,pfscan_Znf_RING,prints_Ankyrin_rpt	p.P167T	ENST00000260947.4	37	c.499	CCDS2397.1	2	.	.	.	.	.	.	.	.	.	.	G	11.40	1.627615	0.28978	.	.	ENSG00000138376	ENST00000260947;ENST00000449967	T;T	0.73575	-0.76;-0.1	6.05	5.16	0.70880	.	0.179362	0.49916	D	0.000139	T	0.71375	0.3332	M	0.69823	2.125	0.32625	N	0.522751	B;P	0.44044	0.045;0.825	B;B	0.38712	0.012;0.28	T	0.78656	-0.2119	10	0.34782	T	0.22	-22.5322	12.7237	0.57156	0.0:0.2314:0.6489:0.1197	.	23;167	E7EUI3;Q99728	.;BARD1_HUMAN	T	167;23	ENSP00000260947:P167T;ENSP00000406752:P23T	ENSP00000260947:P167T	P	-	1	0	BARD1	215354344	0.605000	0.26941	0.185000	0.23176	0.007000	0.05969	1.300000	0.33436	1.553000	0.49476	-0.182000	0.12963	CCT	BARD1	-	NULL	ENSG00000138376		0.403	BARD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BARD1	HGNC	protein_coding	OTTHUMT00000256602.1	-	0.00	79	0	G	NM_000465		215646099	-1	tier1	-	no_errors	ENST00000260947	ensembl	human	known	74_37	missense	5.95	79	5	SNP	0.720	T
BPIFB2	80341	genome.wustl.edu	37	20	31601666	31601666	+	Missense_Mutation	SNP	C	C	A			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr20:31601666C>A	ENST00000170150.3	+	5	554	c.359C>A	c.(358-360)aCc>aAc	p.T120N		NM_025227.1	NP_079503.1	Q8N4F0	BPIB2_HUMAN	BPI fold containing family B, member 2	120						extracellular vesicular exosome (GO:0070062)	lipid binding (GO:0008289)										CTGGCTGACACCCGCGTGACC	0.637																																																	0													50.0	49.0	49.0					20																	31601666		2203	4300	6503	SO:0001583	missense	0			AF465765	CCDS13210.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000078898	ENSG00000078898		"""BPI fold containing"""	16177	protein-coding gene	gene with protein product		614108	"""bactericidal/permeability-increasing protein-like 1"""	C20orf184, BPIL1		12185532, 21787333	Standard	NM_025227		Approved	dJ726C3.2, LPLUNC2	uc002wyj.4	Q8N4F0	OTTHUMG00000032232	ENST00000170150.3:c.359C>A	20.37:g.31601666C>A	ENSP00000170150:p.Thr120Asn		Q6UWN3|Q6ZME0|Q8NFQ7	Missense_Mutation	SNP	pfam_Lipid-bd_serum_glycop_C,pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C	p.T120N	ENST00000170150.3	37	c.359	CCDS13210.1	20	.	.	.	.	.	.	.	.	.	.	C	12.03	1.815186	0.32053	.	.	ENSG00000078898	ENST00000170150	T	0.05513	3.43	3.37	-1.96	0.07525	.	1.744170	0.03087	N	0.159218	T	0.05593	0.0147	N	0.19112	0.55	0.09310	N	1	B	0.33919	0.432	B	0.35931	0.214	T	0.39231	-0.9624	10	0.49607	T	0.09	-1.6418	7.3846	0.26874	0.0:0.3752:0.0:0.6248	.	120	Q8N4F0	BPIB2_HUMAN	N	120	ENSP00000170150:T120N	ENSP00000170150:T120N	T	+	2	0	BPIFB2	31065327	0.000000	0.05858	0.000000	0.03702	0.296000	0.27459	-0.572000	0.05881	-0.401000	0.07644	-0.339000	0.08088	ACC	BPIFB2	-	pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom	ENSG00000078898		0.637	BPIFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BPIFB2	HGNC	protein_coding	OTTHUMT00000078652.2	-	0.00	42	0	C	NM_025227		31601666	+1	tier1	-	no_errors	ENST00000170150	ensembl	human	known	74_37	missense	41.67	42	30	SNP	0.000	A
BTRC	8945	genome.wustl.edu	37	10	103291061	103291061	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr10:103291061C>T	ENST00000370187.3	+	7	929	c.811C>T	c.(811-813)Ctt>Ttt	p.L271F	BTRC_ENST00000408038.2_Missense_Mutation_p.L235F|BTRC_ENST00000393441.4_Missense_Mutation_p.L230F	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing E3 ubiquitin protein ligase	271					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cellular response to organic cyclic compound (GO:0071407)|G2/M transition of mitotic cell cycle (GO:0000086)|mammary gland epithelial cell proliferation (GO:0033598)|mitotic cell cycle (GO:0000278)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein dephosphorylation (GO:0006470)|protein destabilization (GO:0031648)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		TTATAGAGCACTTTATCCTAA	0.363																																																	0													84.0	93.0	90.0					10																	103291061		2203	4300	6503	SO:0001583	missense	0			Y14153	CCDS7511.1, CCDS7512.1, CCDS73183.1	10q24.32	2013-01-10	2012-02-23		ENSG00000166167	ENSG00000166167		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	1144	protein-coding gene	gene with protein product		603482	"""beta-transducin repeat containing"""			9660940, 10331953, 18354483	Standard	NM_033637		Approved	bTrCP, betaTrCP, FBXW1A, Fwd1, beta-TrCP1, bTrCP1	uc001kta.4	Q9Y297	OTTHUMG00000018932	ENST00000370187.3:c.811C>T	10.37:g.103291061C>T	ENSP00000359206:p.Leu271Phe		B5MD49|Q5W141|Q5W142|Q9Y213	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Beta-TrCP_D,pfam_F-box_dom,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.L271F	ENST00000370187.3	37	c.811	CCDS7512.1	10	.	.	.	.	.	.	.	.	.	.	C	17.88	3.497025	0.64186	.	.	ENSG00000166167	ENST00000370187;ENST00000393441;ENST00000408038	T;T;T	0.24723	1.84;1.84;1.84	5.57	4.66	0.58398	F-box domain, Skp2-like (1);	0.000000	0.64402	D	0.000004	T	0.51924	0.1703	M	0.88640	2.97	0.80722	D	1	D;D;D	0.76494	0.998;0.998;0.999	P;D;P	0.64321	0.888;0.924;0.907	T	0.58284	-0.7663	10	0.17369	T	0.5	-8.5611	14.5835	0.68308	0.0:0.9295:0.0:0.0705	.	245;235;271	B7Z3H4;Q9Y297-2;Q9Y297	.;.;FBW1A_HUMAN	F	271;230;235	ENSP00000359206:L271F;ENSP00000377088:L230F;ENSP00000385339:L235F	ENSP00000359206:L271F	L	+	1	0	BTRC	103281051	1.000000	0.71417	1.000000	0.80357	0.385000	0.30292	7.818000	0.86416	1.346000	0.45694	-0.157000	0.13467	CTT	BTRC	-	superfamily_F-box_dom	ENSG00000166167		0.363	BTRC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BTRC	HGNC	protein_coding	OTTHUMT00000049936.1	-	0.00	44	0	C	NM_033637		103291061	+1	tier1	-	no_errors	ENST00000370187	ensembl	human	known	74_37	missense	18.37	40	9	SNP	1.000	T
C12orf4	57102	genome.wustl.edu	37	12	4639200	4639200	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr12:4639200G>A	ENST00000261250.3	-	4	428	c.341C>T	c.(340-342)gCa>gTa	p.A114V	C12orf4_ENST00000545746.1_Missense_Mutation_p.A114V	NM_020374.2	NP_065107.1	Q9NQ89	CL004_HUMAN	chromosome 12 open reading frame 4	114										NS(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)	BRCA - Breast invasive adenocarcinoma(232;0.0281)		TTCAGGCCTTGCATGCTCTAA	0.348																																																	0													91.0	87.0	89.0					12																	4639200		2203	4300	6503	SO:0001583	missense	0			AJ272205	CCDS8528.1	12p13.3	2012-08-10			ENSG00000047621	ENSG00000047621			1184	protein-coding gene	gene with protein product							Standard	NM_020374		Approved		uc001qms.3	Q9NQ89	OTTHUMG00000168258	ENST00000261250.3:c.341C>T	12.37:g.4639200G>A	ENSP00000261250:p.Ala114Val		D3DUQ8|Q6MZH5	Missense_Mutation	SNP	pfam_DUF2362	p.A114V	ENST00000261250.3	37	c.341	CCDS8528.1	12	.	.	.	.	.	.	.	.	.	.	G	16.77	3.214626	0.58452	.	.	ENSG00000047621	ENST00000261250;ENST00000545746;ENST00000542080	.	.	.	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.70718	0.3256	M	0.71036	2.16	0.80722	D	1	B	0.27910	0.193	B	0.34536	0.185	T	0.71826	-0.4475	9	0.66056	D	0.02	.	17.4701	0.87643	0.0:0.0:1.0:0.0	.	114	Q9NQ89	CL004_HUMAN	V	114;114;67	.	ENSP00000261250:A114V	A	-	2	0	C12orf4	4509461	1.000000	0.71417	0.346000	0.25655	0.521000	0.34408	7.424000	0.80242	2.615000	0.88500	0.650000	0.86243	GCA	C12orf4	-	pfam_DUF2362	ENSG00000047621		0.348	C12orf4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf4	HGNC	protein_coding	OTTHUMT00000398992.1	-	0.00	69	0	G	NM_020374		4639200	-1	tier1	-	no_errors	ENST00000261250	ensembl	human	known	74_37	missense	5.95	79	5	SNP	0.996	A
C1QTNF3	114899	genome.wustl.edu	37	5	34020796	34020796	+	Missense_Mutation	SNP	C	C	A			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr5:34020796C>A	ENST00000231338.7	-	6	720	c.633G>T	c.(631-633)aaG>aaT	p.K211N	RP11-1084J3.4_ENST00000382079.3_Missense_Mutation_p.K195N|C1QTNF3_ENST00000513065.1_5'UTR|C1QTNF3_ENST00000382065.3_Missense_Mutation_p.K284N	NM_030945.3	NP_112207.1	Q9BXJ4	C1QT3_HUMAN	C1q and tumor necrosis factor related protein 3	211	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				cellular triglyceride homeostasis (GO:0035356)|fat cell differentiation (GO:0045444)|negative regulation of gene expression (GO:0010629)|negative regulation of gluconeogenesis (GO:0045721)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-6 secretion (GO:1900165)|negative regulation of monocyte chemotactic protein-1 production (GO:0071638)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of adiponectin secretion (GO:0070165)|positive regulation of cytokine secretion (GO:0050715)|protein trimerization (GO:0070206)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|prostate(3)|stomach(1)|urinary_tract(1)	17	all_lung(31;0.0207)					CTTTGGCTAGCTTCAGCACAG	0.473																																																	0													175.0	153.0	161.0					5																	34020796		2203	4300	6503	SO:0001583	missense	0			AF329837	CCDS3904.1, CCDS34141.1	5p13	2009-05-20			ENSG00000082196	ENSG00000082196			14326	protein-coding gene	gene with protein product	"""cartonectin"""	612045				18421280	Standard	NM_030945		Approved	CTRP3, Cors, Corcs, 2310005P21Rik, Cors-26	uc003jio.3	Q9BXJ4	OTTHUMG00000090735	ENST00000231338.7:c.633G>T	5.37:g.34020796C>A	ENSP00000231338:p.Lys211Asn		Q0VAN4|Q542Y2|Q6MZN1|Q96KY1	Missense_Mutation	SNP	pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q	p.K284N	ENST00000231338.7	37	c.852	CCDS3904.1	5	.	.	.	.	.	.	.	.	.	.	C	14.70	2.613533	0.46631	.	.	ENSG00000082196	ENST00000382056;ENST00000382065;ENST00000231338	T;T	0.75704	-0.96;-0.96	5.62	1.31	0.21738	Tumour necrosis factor-like (2);Complement C1q protein (4);	.	.	.	.	T	0.56543	0.1992	N	0.11756	0.17	0.40720	D	0.982659	B;B	0.22211	0.066;0.006	B;B	0.34346	0.18;0.063	T	0.45205	-0.9277	9	0.37606	T	0.19	.	6.7573	0.23520	0.0:0.3654:0.0:0.6346	.	284;211	Q0VAN4;Q9BXJ4	.;C1QT3_HUMAN	N	164;284;211	ENSP00000371497:K284N;ENSP00000231338:K211N	ENSP00000231338:K211N	K	-	3	2	C1QTNF3	34056553	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	1.089000	0.30890	0.340000	0.23745	-0.136000	0.14681	AAG	C1QTNF3	-	pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q	ENSG00000082196		0.473	C1QTNF3-001	KNOWN	basic|CCDS	protein_coding	C1QTNF3	HGNC	protein_coding	OTTHUMT00000207469.1	-	0.00	34	0	C	NM_030945		34020796	-1	tier1	-	no_errors	ENST00000382065	ensembl	human	known	74_37	missense	22.45	38	11	SNP	1.000	A
RBP5	83758	genome.wustl.edu	37	12	7273293	7273293	+	IGR	SNP	G	G	A			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr12:7273293G>A	ENST00000266560.3	-	0	1012				C1RL-AS1_ENST00000382215.3_RNA|C1RL-AS1_ENST00000545775.1_RNA|RNU6-485P_ENST00000363475.2_RNA|C1RL-AS1_ENST00000541775.1_RNA|C1RL-AS1_ENST00000535078.1_RNA	NM_031491.2	NP_113679.1	P29762	RABP1_HUMAN	retinol binding protein 5, cellular						multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)	cytosol (GO:0005829)	retinal binding (GO:0016918)|retinoic acid binding (GO:0001972)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|transporter activity (GO:0005215)			autonomic_ganglia(1)|endometrium(4)|large_intestine(1)|lung(3)|ovary(1)	10					Alitretinoin(DB00523)|Tretinoin(DB00755)	AGAGGGAGCCGGGGAGACTTC	0.592													G|||	2	0.000399361	0.0	0.0	5008	,	,		-128	0.0		0.0	False		,,,				2504	0.002																0																																										SO:0001628	intergenic_variant	0			AY007436	CCDS8574.1	12p13.31	2013-03-01	2001-11-28		ENSG00000139194	ENSG00000139194		"""Fatty acid binding protein family"""	15847	protein-coding gene	gene with protein product		611866	"""retinol-binding protein 5, cellular"""			11274389	Standard	NM_031491		Approved	CRBPIII	uc001qsq.3	P82980	OTTHUMG00000168165		12.37:g.7273293G>A			Q6IAY7|Q8WTV5	RNA	SNP	-	NULL	ENST00000266560.3	37	NULL	CCDS8574.1	12																																																																																			C1RL-AS1	-	-	ENSG00000205885		0.592	RBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1RL-AS1	HGNC	protein_coding	OTTHUMT00000398554.1	-	0.00	36	0	G	NM_031491		7273293	+1	tier1	-	no_errors	ENST00000382215	ensembl	human	known	74_37	rna	30.00	28	12	SNP	0.005	A
C21orf58	54058	genome.wustl.edu	37	21	47721985	47721986	+	In_Frame_Ins	INS	-	-	TGG	rs144178764|rs112899928|rs35902237|rs71318063	byFrequency	TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr21:47721985_47721986insTGG	ENST00000291691.7	-	8	2032_2033	c.896_897insCCA	c.(895-897)cat>caCCAt	p.299_299H>HH	C21orf58_ENST00000397683.1_In_Frame_Ins_p.193_193H>HH|C21orf58_ENST00000472607.1_5'UTR|C21orf58_ENST00000397680.1_In_Frame_Ins_p.193_193H>HH|C21orf58_ENST00000397682.3_In_Frame_Ins_p.193_193H>HH|C21orf58_ENST00000397679.1_In_Frame_Ins_p.193_193H>HH	NM_058180.3	NP_478060.2	P58505	CU058_HUMAN	chromosome 21 open reading frame 58	299	Poly-His.							p.H299_A300insH(3)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(1)|pancreas(1)	9	Breast(49;0.112)			Colorectal(79;0.239)		GCCACACAGCAtggtggtggtg	0.708														1382	0.275958	0.1384	0.4063	5008	,	,		16708	0.3046		0.3091	False		,,,				2504	0.3057																3	Insertion - In frame(3)	breast(2)|central_nervous_system(1)																																								SO:0001652	inframe_insertion	0				CCDS13735.1, CCDS68229.1	21q22.3	2008-07-07			ENSG00000160298	ENSG00000160298			1300	protein-coding gene	gene with protein product							Standard	XM_005261149		Approved		uc002zjf.3	P58505	OTTHUMG00000090634	ENST00000291691.7:c.894_896dupCCA	21.37:g.47721992_47721994dupTGG	ENSP00000291691:p.His299dup		B3KPI1	In_Frame_Ins	INS	NULL	p.300in_frame_insH	ENST00000291691.7	37	c.897_896	CCDS13735.1	21																																																																																			C21orf58	-	NULL	ENSG00000160298		0.708	C21orf58-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C21orf58	HGNC	protein_coding	OTTHUMT00000207283.1		0.00	12	0	-	NM_058180		47721986	-1	tier1		no_errors	ENST00000291691	ensembl	human	known	74_37	in_frame_ins	52.17	11	12	INS	0.000:0.001	TGG
C3orf27	23434	genome.wustl.edu	37	3	128292319	128292320	+	Frame_Shift_Del	DEL	TC	TC	-	rs147519916		TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	TC	TC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr3:128292319_128292320delTC	ENST00000356020.2	-	3	1219_1220	c.253_254delGA	c.(253-255)gatfs	p.D86fs		NM_007354.2	NP_031380.1	O15544	GR6_HUMAN	chromosome 3 open reading frame 27	86										large_intestine(2)|lung(5)|prostate(1)	8				GBM - Glioblastoma multiforme(114;0.176)		GAGCTCGTCATCTCTCTCTCTC	0.599																																																	0																																										SO:0001589	frameshift_variant	0			AF008192	CCDS3050.1	3q21	2005-12-19			ENSG00000198685	ENSG00000198685			17099	protein-coding gene	gene with protein product						9307271	Standard	NR_125802		Approved	GR6	uc003ekq.3	O15544	OTTHUMG00000159688	ENST00000356020.2:c.253_254delGA	3.37:g.128292329_128292330delTC	ENSP00000348302:p.Asp86fs			Frame_Shift_Del	DEL	NULL	p.D85fs	ENST00000356020.2	37	c.254_253	CCDS3050.1	3																																																																																			C3orf27	-	NULL	ENSG00000198685		0.599	C3orf27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf27	HGNC	protein_coding	OTTHUMT00000356924.1		0.00	35	0	TC	NM_007354		128292320	-1	tier1		no_errors	ENST00000356020	ensembl	human	known	74_37	frame_shift_del	10.00	27	3	DEL	0.075:0.076	-
CASP1	834	genome.wustl.edu	37	11	104904982	104904982	+	Missense_Mutation	SNP	A	A	C			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr11:104904982A>C	ENST00000533400.1	-	2	262	c.227T>G	c.(226-228)aTt>aGt	p.I76S	CASP1_ENST00000446369.1_Intron|CASP1_ENST00000353247.5_Intron|CASP1_ENST00000393136.4_Missense_Mutation_p.I76S|CASP1_ENST00000534497.1_Intron|CASP1_ENST00000531166.1_Intron|CASP1_ENST00000436863.3_Missense_Mutation_p.I76S|CASP1_ENST00000528974.1_Missense_Mutation_p.I37S|CASP1_ENST00000525825.1_Missense_Mutation_p.I76S|CASP1_ENST00000598974.1_Missense_Mutation_p.I76S|CASP1_ENST00000593315.1_Missense_Mutation_p.I76S|CASP1_ENST00000415981.2_Intron|CASP1_ENST00000527979.1_Missense_Mutation_p.I60S|CASP1_ENST00000526568.1_Intron|CASP1_ENST00000594519.1_Intron	NM_001257118.1	NP_001244047.1	P29466	CASP1_HUMAN	caspase 1, apoptosis-related cysteine peptidase	76	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic substance (GO:0071310)|execution phase of apoptosis (GO:0097194)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|membrane hyperpolarization (GO:0060081)|mitochondrial depolarization (GO:0051882)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 alpha secretion (GO:0050717)|positive regulation of interleukin-1 beta secretion (GO:0050718)|programmed necrotic cell death (GO:0097300)|proteolysis (GO:0006508)|pyroptosis (GO:0070269)|regulation of inflammatory response (GO:0050727)|response to ATP (GO:0033198)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|IPAF inflammasome complex (GO:0072557)|NLRP1 inflammasome complex (GO:0072558)|NLRP3 inflammasome complex (GO:0072559)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|cysteine-type endopeptidase activity (GO:0004197)|endopeptidase activity (GO:0004175)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)	TTCTTCACAAATGTATGTGAT	0.478																																					NSCLC(41;1246 1743 4934)												0													173.0	156.0	161.0					11																	104904982		2202	4297	6499	SO:0001583	missense	0			U13697	CCDS8329.1, CCDS8330.1, CCDS8331.1, CCDS8332.1, CCDS53704.1	11q23	2012-02-29	2012-02-29		ENSG00000137752	ENSG00000137752		"""Caspases"""	1499	protein-coding gene	gene with protein product	"""caspase-1"", ""interleukin 1, beta, convertase"""	147678	"""caspase 1, apoptosis-related cysteine protease (interleukin 1, beta, convertase)"", ""caspase 1, apoptosis-related cysteine peptidase (interleukin 1, beta, convertase)"""	IL1BC		1373520, 9250871	Standard	NM_033292		Approved	ICE	uc001pim.5	P29466	OTTHUMG00000048072	ENST00000533400.1:c.227T>G	11.37:g.104904982A>C	ENSP00000433138:p.Ile76Ser		B5MDZ1|Q53EY6|Q6DMQ1|Q6GSS3|Q6PI75|Q9UCN3	Missense_Mutation	SNP	pfam_Pept_C14_caspase,pfam_CARD,superfamily_DEATH-like_dom,smart_CARD,smart_Pept_C14A_p45_core,pirsf_Caspase_IL-1_beta,pfscan_CARD,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core	p.I76S	ENST00000533400.1	37	c.227	CCDS8330.1	11	.	.	.	.	.	.	.	.	.	.	.	16.44	3.124657	0.56613	.	.	ENSG00000137752	ENST00000527979;ENST00000533400;ENST00000436863;ENST00000393136;ENST00000525825;ENST00000528974	T;T;T;T;T;T	0.51071	0.72;2.21;2.21;2.21;2.21;0.72	4.83	4.83	0.62350	DEATH-like (2);Caspase Recruitment (3);	0.356141	0.27442	N	0.019342	T	0.70465	0.3227	M	0.85197	2.74	0.09310	N	1	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;0.999	D;D;D;D;D	0.85130	0.997;0.995;0.986;0.995;0.986	T	0.65565	-0.6137	10	0.87932	D	0	.	12.6423	0.56716	1.0:0.0:0.0:0.0	.	76;37;76;76;60	B4DKN4;B4DVD8;P29466-2;P29466;G3V169	.;.;.;CASP1_HUMAN;.	S	60;76;76;76;76;37	ENSP00000432340:I60S;ENSP00000433138:I76S;ENSP00000410076:I76S;ENSP00000376844:I76S;ENSP00000434779:I76S;ENSP00000434259:I37S	ENSP00000376844:I76S	I	-	2	0	CASP1	104410192	0.232000	0.23762	0.012000	0.15200	0.016000	0.09150	5.182000	0.65059	1.931000	0.55961	0.455000	0.32223	ATT	CASP1	-	pfam_CARD,superfamily_DEATH-like_dom,smart_CARD,pirsf_Caspase_IL-1_beta,pfscan_CARD	ENSG00000137752		0.478	CASP1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	CASP1	HGNC	protein_coding	OTTHUMT00000388116.1	-	0.00	128	0	A	NM_033292		104904982	-1	tier1	-	no_errors	ENST00000436863	ensembl	human	known	74_37	missense	53.80	85	99	SNP	0.011	C
CCDC136	64753	genome.wustl.edu	37	7	128454917	128454917	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr7:128454917delA	ENST00000297788.4	+	15	3356	c.2989delA	c.(2989-2991)aaafs	p.K998fs	CCDC136_ENST00000378685.4_Intron|CCDC136_ENST00000487361.1_Intron|CCDC136_ENST00000464832.1_Intron|CCDC136_ENST00000471729.1_3'UTR	NM_022742.4	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	998						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						GGTTAAAATGAAAAAGGTGAC	0.488																																																	0													55.0	56.0	56.0					7																	128454917		1908	4130	6038	SO:0001589	frameshift_variant	0				CCDS47704.1, CCDS56510.1	7q33	2007-08-01			ENSG00000128596	ENSG00000128596			22225	protein-coding gene	gene with protein product		611902				15112360	Standard	NM_022742		Approved	KIAA1793, NAG6, DKFZP434G156	uc003vnv.2	Q96JN2	OTTHUMG00000158310	ENST00000297788.4:c.2989delA	7.37:g.128454917delA	ENSP00000297788:p.Lys998fs		A4D1K1|A7MCY7|A8MYA7|Q6ZVK7|Q9H8M3|Q9UFE1	Frame_Shift_Del	DEL	NULL	p.K998fs	ENST00000297788.4	37	c.2989	CCDS47704.1	7																																																																																			CCDC136	-	NULL	ENSG00000128596		0.488	CCDC136-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC136	HGNC	protein_coding	OTTHUMT00000350641.1		0.00	43	0	A	NM_022742		128454917	+1	tier1		no_errors	ENST00000297788	ensembl	human	known	74_37	frame_shift_del	5.13	37	2	DEL	0.153	-
CCDC144NL	339184	genome.wustl.edu	37	17	20768734	20768734	+	Silent	SNP	T	T	C			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr17:20768734T>C	ENST00000327925.5	-	4	779	c.660A>G	c.(658-660)gtA>gtG	p.V220V	CCDC144NL_ENST00000539484.1_5'UTR	NM_001004306.1	NP_001004306.1	Q6NUI1	C144L_HUMAN	coiled-coil domain containing 144 family, N-terminal like	220										large_intestine(3)|lung(3)|skin(1)	7						ATGTTTACCTTACAACATTAG	0.363																																																	0													103.0	94.0	97.0					17																	20768734		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS32591.1	17p11.2	2009-01-15			ENSG00000205212	ENSG00000205212			33735	protein-coding gene	gene with protein product							Standard	NM_001004306		Approved	MGC87631	uc002gyf.3	Q6NUI1	OTTHUMG00000132271	ENST00000327925.5:c.660A>G	17.37:g.20768734T>C				Silent	SNP	NULL	p.V220	ENST00000327925.5	37	c.660	CCDS32591.1	17																																																																																			CCDC144NL	-	NULL	ENSG00000205212		0.363	CCDC144NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC144NL	HGNC	protein_coding	OTTHUMT00000255361.2		0.00	58	0	T	NM_001004306		20768734	-1			no_errors	ENST00000327925	ensembl	human	known	74_37	silent	7.41	50	4	SNP	0.008	C
CCDC63	160762	genome.wustl.edu	37	12	111296453	111296453	+	Silent	SNP	A	A	G			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr12:111296453A>G	ENST00000308208.5	+	4	485	c.243A>G	c.(241-243)aaA>aaG	p.K81K	CCDC63_ENST00000545036.1_Silent_p.K41K|CCDC63_ENST00000552694.1_Silent_p.K2K|CCDC63_ENST00000550317.1_3'UTR	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	81										NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						GTCTCATGAAATCCTCGAGGA	0.478																																																	0													119.0	108.0	112.0					12																	111296453		2203	4300	6503	SO:0001819	synonymous_variant	0			AK093162	CCDS9151.1, CCDS66470.1, CCDS73528.1	12q24.11	2013-02-19				ENSG00000173093			26669	protein-coding gene	gene with protein product	"""outer row dynein assembly 5 homolog (Chlamydomonas)"""						Standard	NM_001286243		Approved	ODA5, FLJ35843	uc001trv.1	Q8NA47	OTTHUMG00000169534	ENST00000308208.5:c.243A>G	12.37:g.111296453A>G			B4DY03|Q0P603|Q6P2E1	Silent	SNP	NULL	p.K81	ENST00000308208.5	37	c.243	CCDS9151.1	12																																																																																			CCDC63	-	NULL	ENSG00000173093		0.478	CCDC63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC63	HGNC	protein_coding	OTTHUMT00000404673.2	-	0.00	41	0	A	NM_152591		111296453	+1	tier1	-	no_errors	ENST00000308208	ensembl	human	known	74_37	silent	88.10	5	37	SNP	0.980	G
CCP110	9738	genome.wustl.edu	37	16	19559292	19559292	+	Silent	SNP	C	C	T			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr16:19559292C>T	ENST00000381396.5	+	13	3103	c.2856C>T	c.(2854-2856)aaC>aaT	p.N952N	CCP110_ENST00000396208.2_Silent_p.N952N|CCP110_ENST00000396212.2_Silent_p.N952N	NM_001199022.1	NP_001185951	O43303	CP110_HUMAN	centriolar coiled coil protein 110kDa	952					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cytokinesis (GO:0032465)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|protein complex (GO:0043234)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1)	21						TTCAGCCAAACCAAGGACAGA	0.358																																																	0													126.0	137.0	133.0					16																	19559292		2197	4300	6497	SO:0001819	synonymous_variant	0			AB007879	CCDS10579.1, CCDS55992.1	16p12.3	2014-02-20	2011-05-27		ENSG00000103540	ENSG00000103540			24342	protein-coding gene	gene with protein product		609544				9455477, 12361598, 16760425	Standard	NM_014711		Approved	KIAA0419, CP110	uc002dgl.4	O43303	OTTHUMG00000131459	ENST00000381396.5:c.2856C>T	16.37:g.19559292C>T			B7WP23|O43335|Q68DV9|Q8NE13	Silent	SNP	NULL	p.N952	ENST00000381396.5	37	c.2856	CCDS55992.1	16																																																																																			CCP110	-	NULL	ENSG00000103540		0.358	CCP110-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCP110	HGNC	protein_coding	OTTHUMT00000254284.2	-	0.00	62	0	C	NM_014711		19559292	+1	tier1	-	no_errors	ENST00000381396	ensembl	human	known	74_37	silent	7.55	49	4	SNP	1.000	T
CCL22	6367	genome.wustl.edu	37	16	57394440	57394440	+	Nonsense_Mutation	SNP	G	G	A	rs200292277		TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr16:57394440G>A	ENST00000219235.4	+	2	210	c.165G>A	c.(163-165)tgG>tgA	p.W55*		NM_002990.4	NP_002981.2	O00626	CCL22_HUMAN	chemokine (C-C motif) ligand 22	55					cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|chemotaxis (GO:0006935)|immune response (GO:0006955)|inflammatory response (GO:0006954)|response to virus (GO:0009615)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)			large_intestine(1)|lung(1)|prostate(1)|skin(1)	4						ACTTCTACTGGACCTCAGACT	0.652																																																	0													82.0	69.0	74.0					16																	57394440		2198	4300	6498	SO:0001587	stop_gained	0			U83171	CCDS10778.1	16q13	2013-02-25	2002-08-22	2002-08-23	ENSG00000102962	ENSG00000102962		"""Chemokine ligands"", ""Endogenous ligands"""	10621	protein-coding gene	gene with protein product		602957	"""small inducible cytokine subfamily A (Cys-Cys), member 22"""	SCYA22		9151897, 9691168	Standard	NM_002990		Approved	MDC, STCP-1, ABCD-1, DC/B-CK, A-152E5.1, MGC34554	uc002elh.3	O00626	OTTHUMG00000133454	ENST00000219235.4:c.165G>A	16.37:g.57394440G>A	ENSP00000219235:p.Trp55*		A0N0Q6|B2R4W2	Nonsense_Mutation	SNP	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom	p.W55*	ENST00000219235.4	37	c.165	CCDS10778.1	16	.	.	.	.	.	.	.	.	.	.	G	13.42	2.232860	0.39498	.	.	ENSG00000102962	ENST00000219235	.	.	.	4.17	3.16	0.36331	.	0.950805	0.08840	N	0.886026	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-6.685	9.0348	0.36280	0.0:0.2478:0.7522:0.0	.	.	.	.	X	55	.	ENSP00000219235:W55X	W	+	3	0	CCL22	55951941	1.000000	0.71417	0.999000	0.59377	0.042000	0.13812	2.601000	0.46249	2.158000	0.67659	0.555000	0.69702	TGG	CCL22	-	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom	ENSG00000102962		0.652	CCL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCL22	HGNC	protein_coding	OTTHUMT00000257328.1	-	0.00	155	0	G	NM_002990		57394440	+1	tier1	rs200292277	no_errors	ENST00000219235	ensembl	human	known	74_37	nonsense	60.47	68	104	SNP	0.998	A
CCR4	1233	genome.wustl.edu	37	3	32994925	32994925	+	Missense_Mutation	SNP	C	C	T	rs200865776		TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr3:32994925C>T	ENST00000330953.5	+	2	179	c.11C>T	c.(10-12)aCg>aTg	p.T4M		NM_005508.4	NP_005499.1	P51679	CCR4_HUMAN	chemokine (C-C motif) receptor 4	4					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|immune response (GO:0006955)|inflammatory response (GO:0006954)|neuron migration (GO:0001764)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of positive chemotaxis (GO:0050927)|response to antibiotic (GO:0046677)|response to bacterium (GO:0009617)|response to radiation (GO:0009314)|tolerance induction (GO:0002507)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)			NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1)	16						ATGAACCCCACGGATATAGCA	0.463																																																	0													57.0	56.0	56.0					3																	32994925		2203	4300	6503	SO:0001583	missense	0			X85740	CCDS2656.1	3p24-p21.3	2012-08-08			ENSG00000183813	ENSG00000183813		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1605	protein-coding gene	gene with protein product		604836				7642634, 8884276	Standard	NM_005508		Approved	CC-CKR-4, CMKBR4, CKR4, k5-5, ChemR13, CD194	uc003cfg.1	P51679	OTTHUMG00000130752	ENST00000330953.5:c.11C>T	3.37:g.32994925C>T	ENSP00000332659:p.Thr4Met		Q9ULY6|Q9ULY7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CCR4,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CXCR4,prints_ATII_rcpt,prints_Duffy_chemokine_rcpt	p.T4M	ENST00000330953.5	37	c.11	CCDS2656.1	3	.	.	.	.	.	.	.	.	.	.	C	12.74	2.029762	0.35797	.	.	ENSG00000183813	ENST00000330953	T	0.67865	-0.29	5.22	4.22	0.49857	.	0.786555	0.10791	N	0.633682	T	0.54775	0.1879	L	0.33485	1.01	0.26660	N	0.971936	B	0.22211	0.066	B	0.11329	0.006	T	0.49380	-0.8946	10	0.87932	D	0	.	8.7554	0.34643	0.0:0.7902:0.0:0.2098	.	4	P51679	CCR4_HUMAN	M	4	ENSP00000332659:T4M	ENSP00000332659:T4M	T	+	2	0	CCR4	32969929	0.001000	0.12720	0.945000	0.38365	0.721000	0.41392	0.857000	0.27831	2.447000	0.82792	0.655000	0.94253	ACG	CCR4	-	NULL	ENSG00000183813		0.463	CCR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCR4	HGNC	protein_coding	OTTHUMT00000253252.2	-	0.00	49	0	C			32994925	+1	tier1	rs200865776	no_errors	ENST00000330953	ensembl	human	known	74_37	missense	8.51	43	4	SNP	0.679	T
CD226	10666	genome.wustl.edu	37	18	67563060	67563060	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr18:67563060C>T	ENST00000280200.4	-	4	872	c.604G>A	c.(604-606)Gga>Aga	p.G202R	CD226_ENST00000577287.1_Missense_Mutation_p.G47R|CD226_ENST00000582621.1_Missense_Mutation_p.G202R|CD226_ENST00000581982.1_Missense_Mutation_p.G47R	NM_006566.2	NP_006557.2	Q15762	CD226_HUMAN	CD226 molecule	202	Ig-like C2-type 2.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)|cytokine production (GO:0001816)|positive regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060369)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of mast cell activation (GO:0033005)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	24		Esophageal squamous(42;0.129)				CTCCACCTTCCGTGGCTGCAG	0.537																																					NSCLC(184;838 2130 8673 21498 50749)												0													122.0	107.0	112.0					18																	67563060		2203	4300	6503	SO:0001583	missense	0			U56102	CCDS11997.1	18q22.3	2013-01-11	2006-03-28		ENSG00000150637	ENSG00000150637		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	16961	protein-coding gene	gene with protein product		605397	"""CD226 antigen"""			8673704	Standard	NM_006566		Approved	DNAM-1, DNAM1, PTA1, TLiSA1	uc002lkm.4	Q15762	OTTHUMG00000132809	ENST00000280200.4:c.604G>A	18.37:g.67563060C>T	ENSP00000280200:p.Gly202Arg		B2R818	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.G202R	ENST00000280200.4	37	c.604	CCDS11997.1	18	.	.	.	.	.	.	.	.	.	.	C	13.66	2.302663	0.40795	.	.	ENSG00000150637	ENST00000280200	T	0.23754	1.89	4.82	3.01	0.34805	Immunoglobulin V-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.099800	0.06666	N	0.765315	T	0.24890	0.0604	M	0.62723	1.935	0.09310	N	1	P	0.50066	0.931	B	0.39706	0.307	T	0.18555	-1.0333	10	0.25106	T	0.35	.	5.861	0.18747	0.1907:0.712:0.0:0.0973	.	202	Q15762	CD226_HUMAN	R	202	ENSP00000280200:G202R	ENSP00000280200:G202R	G	-	1	0	CD226	65714040	0.000000	0.05858	0.002000	0.10522	0.032000	0.12392	-0.035000	0.12205	0.725000	0.32318	0.650000	0.86243	GGA	CD226	-	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000150637		0.537	CD226-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD226	HGNC	protein_coding	OTTHUMT00000256226.3	-	0.00	53	0	C	NM_006566		67563060	-1	tier1	-	no_errors	ENST00000280200	ensembl	human	known	74_37	missense	45.26	52	43	SNP	0.004	T
CDC27	996	genome.wustl.edu	37	17	45234372	45234372	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr17:45234372C>T	ENST00000066544.3	-	7	842	c.749G>A	c.(748-750)gGa>gAa	p.G250E	CDC27_ENST00000527547.1_Missense_Mutation_p.G250E|CDC27_ENST00000531206.1_Missense_Mutation_p.G250E|CDC27_ENST00000528748.1_5'Flank|CDC27_ENST00000446365.2_Missense_Mutation_p.G189E	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	250					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TATGGAAGTTCCTGTTCCCAG	0.383																																																	0													54.0	59.0	58.0					17																	45234372		2195	4295	6490	SO:0001583	missense	0			U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.749G>A	17.37:g.45234372C>T	ENSP00000066544:p.Gly250Glu		G3V1C4|Q16349|Q96F35	Missense_Mutation	SNP	pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.G250E	ENST00000066544.3	37	c.749	CCDS11509.1	17	.	.	.	.	.	.	.	.	.	.	C	16.05	3.012896	0.54468	.	.	ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547;ENST00000526866	T;T;T;T;T	0.66815	-0.19;-0.23;0.08;-0.19;0.95	5.44	5.44	0.79542	.	0.058397	0.64402	D	0.000002	T	0.50531	0.1621	N	0.19112	0.55	0.50632	D	0.999885	P;B;B;B	0.34462	0.454;0.435;0.403;0.207	B;B;B;B	0.33799	0.057;0.058;0.17;0.016	T	0.49041	-0.8980	10	0.10111	T	0.7	-23.0399	16.7505	0.85484	0.0:1.0:0.0:0.0	.	189;250;250;250	B4DL80;G5EA36;G3V1C4;P30260	.;.;.;CDC27_HUMAN	E	250;250;189;250;250	ENSP00000066544:G250E;ENSP00000434614:G250E;ENSP00000392802:G189E;ENSP00000437339:G250E;ENSP00000432105:G250E	ENSP00000066544:G250E	G	-	2	0	CDC27	42589371	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	5.600000	0.67599	2.555000	0.86185	0.460000	0.39030	GGA	CDC27	-	NULL	ENSG00000004897		0.383	CDC27-001	KNOWN	basic|CCDS	protein_coding	CDC27	HGNC	protein_coding	OTTHUMT00000389742.2		0.00	99	0	C			45234372	-1			no_errors	ENST00000531206	ensembl	human	known	74_37	missense	7.95	81	7	SNP	1.000	T
CDH10	1008	genome.wustl.edu	37	5	24487316	24487316	+	3'UTR	SNP	C	C	T			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr5:24487316C>T	ENST00000264463.4	-	0	3330				CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)						adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		GTCTGTATACCAGGTTGCATA	0.234										HNSCC(23;0.051)																																							0																																										SO:0001624	3_prime_UTR_variant	0			AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.*456G>A	5.37:g.24487316C>T			Q9ULB3	RNA	SNP	-	NULL	ENST00000264463.4	37	NULL	CCDS3892.1	5																																																																																			CDH10	-	-	ENSG00000040731		0.234	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH10	HGNC	protein_coding	OTTHUMT00000207345.2	-	0.00	121	0	C	NM_006727		24487316	-1	tier1	-	no_errors	ENST00000502921	ensembl	human	known	74_37	rna	18.80	107	25	SNP	1.000	T
CENPE	1062	genome.wustl.edu	37	4	104097163	104097163	+	Missense_Mutation	SNP	G	G	C			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr4:104097163G>C	ENST00000265148.3	-	15	1522	c.1433C>G	c.(1432-1434)aCa>aGa	p.T478R	CENPE_ENST00000380026.3_Missense_Mutation_p.T478R	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	478					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)		CTCACTTAATGTATCAAGAGT	0.294																																																	0													116.0	116.0	116.0					4																	104097163		2202	4295	6497	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.1433C>G	4.37:g.104097163G>C	ENSP00000265148:p.Thr478Arg		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.T478R	ENST00000265148.3	37	c.1433	CCDS34042.1	4	.	.	.	.	.	.	.	.	.	.	G	13.60	2.285304	0.40394	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026;ENST00000503705	T;T;T	0.54675	0.56;0.56;0.56	5.68	4.83	0.62350	.	.	.	.	.	T	0.52025	0.1709	L	0.44542	1.39	0.09310	N	1	P;D	0.60160	0.95;0.987	P;P	0.51355	0.667;0.648	T	0.40136	-0.9579	9	0.31617	T	0.26	.	9.5799	0.39481	0.0928:0.0:0.9072:0.0	.	478;478	Q02224-3;Q02224	.;CENPE_HUMAN	R	478	ENSP00000265148:T478R;ENSP00000369365:T478R;ENSP00000423981:T478R	ENSP00000265148:T478R	T	-	2	0	CENPE	104316612	0.078000	0.21339	0.097000	0.21041	0.705000	0.40729	2.772000	0.47678	2.679000	0.91253	0.557000	0.71058	ACA	CENPE	-	NULL	ENSG00000138778		0.294	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPE	HGNC	protein_coding		-	0.00	48	0	G			104097163	-1	tier1	-	no_errors	ENST00000265148	ensembl	human	known	74_37	missense	38.46	24	15	SNP	0.048	C
CHGB	1114	genome.wustl.edu	37	20	5897656	5897656	+	Intron	SNP	G	G	A			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr20:5897656G>A	ENST00000378961.4	+	3	394				CHGB_ENST00000488832.1_3'UTR	NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)							extracellular region (GO:0005576)|secretory granule (GO:0030141)	hormone activity (GO:0005179)			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						ATCTACAAATGACCTGGGGGC	0.483																																																	0																																										SO:0001627	intron_variant	0				CCDS13092.1	20p12.3	2013-09-19			ENSG00000089199	ENSG00000089199			1930	protein-coding gene	gene with protein product	"""secretogranin B"""	118920		SCG1		3608978	Standard	NM_001819		Approved		uc002wmg.3	P05060	OTTHUMG00000031821	ENST00000378961.4:c.190+91G>A	20.37:g.5897656G>A			A8K021|Q59EU9|Q6IBS6|Q9BQV6|Q9UC25|Q9UJA6	RNA	SNP	-	NULL	ENST00000378961.4	37	NULL	CCDS13092.1	20																																																																																			CHGB	-	-	ENSG00000089199		0.483	CHGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHGB	HGNC	protein_coding	OTTHUMT00000077897.2	-	0.00	16	0	G	NM_001819		5897656	+1	tier1	-	no_errors	ENST00000488832	ensembl	human	known	74_37	rna	27.27	16	6	SNP	0.002	A
CEP250	11190	genome.wustl.edu	37	20	34061830	34061830	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr20:34061830G>T	ENST00000397527.1	+	14	2244	c.1524G>T	c.(1522-1524)gaG>gaT	p.E508D	RP3-477O4.14_ENST00000453914.1_RNA|RP3-477O4.14_ENST00000416260.1_RNA|CEP250_ENST00000342580.4_Missense_Mutation_p.E508D|RP3-477O4.14_ENST00000444933.1_RNA	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	508	Gln/Glu-rich.				centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			GCCAGAAGGAGGAACAGCAGG	0.612																																																	0													33.0	35.0	34.0					20																	34061830		2203	4300	6503	SO:0001583	missense	0			AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"""centrosomal protein 2"""	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.1524G>T	20.37:g.34061830G>T	ENSP00000380661:p.Glu508Asp		E1P5Q3|O14812|O60588|Q9H450	Missense_Mutation	SNP	superfamily_Prefoldin	p.E508D	ENST00000397527.1	37	c.1524	CCDS13255.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.282356|5.282356	0.95489|0.95489	.|.	.|.	ENSG00000126001|ENSG00000126001	ENST00000397527;ENST00000342580;ENST00000425934|ENST00000425096	T;T;T|.	0.26957|.	2.64;2.68;1.7|.	5.32|5.32	3.38|3.38	0.38709|0.38709	.|.	0.419877|.	0.19869|.	N|.	0.104244|.	T|T	0.22126|0.22126	0.0533|0.0533	N|N	0.14661|0.14661	0.345|0.345	0.22610|0.22610	N|N	0.998934|0.998934	P|.	0.43352|.	0.804|.	B|.	0.36134|.	0.218|.	T|T	0.22487|0.22487	-1.0215|-1.0215	10|5	0.17369|.	T|.	0.5|.	.|.	8.2938|8.2938	0.31973|0.31973	0.3085:0.0:0.6915:0.0|0.3085:0.0:0.6915:0.0	.|.	508|.	Q9BV73|.	CP250_HUMAN|.	D|M	508;508;507|2	ENSP00000380661:E508D;ENSP00000341541:E508D;ENSP00000413827:E507D|.	ENSP00000341541:E508D|.	E|R	+|+	3|2	2|0	CEP250|CEP250	33525244|33525244	0.945000|0.945000	0.32115|0.32115	1.000000|1.000000	0.80357|0.80357	0.963000|0.963000	0.63663|0.63663	-0.080000|-0.080000	0.11339|0.11339	0.628000|0.628000	0.30357|0.30357	0.655000|0.655000	0.94253|0.94253	GAG|AGG	CEP250	-	NULL	ENSG00000126001		0.612	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP250	HGNC	protein_coding	OTTHUMT00000078877.7	-	0.00	44	0	G	NM_007186		34061830	+1	tier1	-	no_errors	ENST00000397527	ensembl	human	known	74_37	missense	9.09	40	4	SNP	0.995	T
CHRM2	1129	genome.wustl.edu	37	7	136555859	136555859	+	Intron	SNP	A	A	C			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr7:136555859A>C	ENST00000445907.2	+	2	482				hsa-mir-490_ENST00000593789.1_RNA|CHRM2_ENST00000320658.5_Intron|CHRM2_ENST00000453373.1_Intron|CHRM2_ENST00000480591.1_3'UTR|CHRM2_ENST00000401861.1_Intron|CHRM2_ENST00000402486.3_Intron|hsa-mir-490_ENST00000597642.1_RNA|CHRM2_ENST00000397608.3_Intron|hsa-mir-490_ENST00000592183.1_RNA|hsa-mir-490_ENST00000598184.1_RNA|hsa-mir-490_ENST00000586239.1_RNA|hsa-mir-490_ENST00000439694.1_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2						adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|nervous system development (GO:0007399)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|regulation of heart contraction (GO:0008016)|response to virus (GO:0009615)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Bethanechol(DB01019)|Brompheniramine(DB00835)|Carbachol(DB00411)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Dimetindene(DB08801)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxacurium chloride(DB01135)|Doxepin(DB01142)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Rocuronium(DB00728)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	GCCTGCAGCCACCGCCAGGGT	0.687																																																	0																																										SO:0001627	intron_variant	0				CCDS5843.1	7q35-q36	2014-09-17			ENSG00000181072	ENSG00000181072		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1951	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 2"""	118493					Standard	NM_000739		Approved		uc003vtl.1	P08172	OTTHUMG00000155658	ENST00000445907.2:c.-47+1694A>C	7.37:g.136555859A>C			Q4VBK6|Q9P1X9	RNA	SNP	-	NULL	ENST00000445907.2	37	NULL	CCDS5843.1	7																																																																																			CHRM2	-	-	ENSG00000181072		0.687	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRM2	HGNC	protein_coding	OTTHUMT00000341010.1	-	0.00	76	0	A			136555859	+1	tier1	-	no_errors	ENST00000480591	ensembl	human	known	74_37	rna	56.60	23	30	SNP	0.000	C
CHRNB1	1140	genome.wustl.edu	37	17	7350840	7350840	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr17:7350840G>T	ENST00000306071.2	+	6	548	c.481G>T	c.(481-483)Gac>Tac	p.D161Y	CHRNB1_ENST00000576360.1_Missense_Mutation_p.D89Y|RP11-104H15.10_ENST00000575331.1_RNA|CHRNB1_ENST00000536404.2_Missense_Mutation_p.D89Y	NM_000747.2	NP_000738.2	P11230	ACHB_HUMAN	cholinergic receptor, nicotinic, beta 1 (muscle)	161					behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|neurological system process (GO:0050877)|neuromuscular synaptic transmission (GO:0007274)|postsynaptic membrane organization (GO:0001941)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)|ligand-gated ion channel activity (GO:0015276)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(3)	23		Prostate(122;0.157)			Galantamine(DB00674)	CTTCCCCTTCGACTGGCAGAA	0.587																																																	0													118.0	105.0	109.0					17																	7350840		2203	4300	6503	SO:0001583	missense	0			X14830	CCDS11106.1	17p13.1	2012-02-11	2006-02-01		ENSG00000170175	ENSG00000170175		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1961	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 1 (muscle)"""	100710	"""cholinergic receptor, nicotinic, beta polypeptide 1 (muscle)"""	CHRNB			Standard	NM_000747		Approved		uc002ghb.3	P11230	OTTHUMG00000108139	ENST00000306071.2:c.481G>T	17.37:g.7350840G>T	ENSP00000304290:p.Asp161Tyr		B7Z5H1|Q8IZ46|Q96FB8	Missense_Mutation	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.D161Y	ENST00000306071.2	37	c.481	CCDS11106.1	17	.	.	.	.	.	.	.	.	.	.	G	24.8	4.572981	0.86542	.	.	ENSG00000170175	ENST00000306071;ENST00000536404	D;D	0.92149	-2.98;-2.98	5.11	5.11	0.69529	Neurotransmitter-gated ion-channel ligand-binding (3);Neurotransmitter-gated ion-channel, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.97445	0.9164	H	0.96748	3.875	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.98797	1.0738	10	0.87932	D	0	.	16.0249	0.80536	0.0:0.0:1.0:0.0	.	161	P11230	ACHB_HUMAN	Y	161;89	ENSP00000304290:D161Y;ENSP00000439209:D89Y	ENSP00000304290:D161Y	D	+	1	0	CHRNB1	7291564	1.000000	0.71417	0.992000	0.48379	0.976000	0.68499	9.451000	0.97610	2.371000	0.80710	0.561000	0.74099	GAC	CHRNB1	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Neur_channel,tigrfam_Neur_channel	ENSG00000170175		0.587	CHRNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNB1	HGNC	protein_coding	OTTHUMT00000226942.3		0.00	30	0	G			7350840	+1			no_errors	ENST00000306071	ensembl	human	known	74_37	missense	11.76	15	2	SNP	1.000	T
CLPS	1208	genome.wustl.edu	37	6	35763554	35763554	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr6:35763554G>A	ENST00000259938.2	-	2	183	c.161C>T	c.(160-162)gCc>gTc	p.A54V		NM_001832.3	NP_001823.1	P04118	COL_HUMAN	colipase, pancreatic	54					lipid catabolic process (GO:0016042)|lipid digestion (GO:0044241)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	enzyme activator activity (GO:0008047)			large_intestine(2)|lung(2)|prostate(1)	5						TGTGCAGCGGGCCAGGCCCAG	0.617																																					Melanoma(167;2962 3494 37796)												0													106.0	96.0	99.0					6																	35763554		2203	4300	6503	SO:0001583	missense	0				CCDS4811.1, CCDS75437.1, CCDS75438.1	6p21.31	2012-02-06			ENSG00000137392	ENSG00000137392			2085	protein-coding gene	gene with protein product		120105				2045105	Standard	NM_001832		Approved		uc003ole.2	P04118	OTTHUMG00000014578	ENST00000259938.2:c.161C>T	6.37:g.35763554G>A	ENSP00000259938:p.Ala54Val		Q5T9G7|Q5U809	Missense_Mutation	SNP	pfam_Colipase_C,pfam_Colipase_N,smart_Colipase,prints_Colipase	p.A54V	ENST00000259938.2	37	c.161	CCDS4811.1	6	.	.	.	.	.	.	.	.	.	.	G	19.04	3.749924	0.69533	.	.	ENSG00000137392	ENST00000259938	T	0.36699	1.24	4.96	4.96	0.65561	Colipase, N-terminal (1);	0.000000	0.64402	D	0.000016	T	0.48857	0.1523	M	0.72118	2.19	0.43994	D	0.996696	D	0.63880	0.993	D	0.63192	0.912	T	0.49000	-0.8984	10	0.54805	T	0.06	-25.0969	15.513	0.75798	0.0:0.0:1.0:0.0	.	54	P04118	COL_HUMAN	V	54	ENSP00000259938:A54V	ENSP00000259938:A54V	A	-	2	0	CLPS	35871532	1.000000	0.71417	1.000000	0.80357	0.204000	0.24138	6.184000	0.72008	2.584000	0.87258	0.561000	0.74099	GCC	CLPS	-	pfam_Colipase_N,smart_Colipase,prints_Colipase	ENSG00000137392		0.617	CLPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLPS	HGNC	protein_coding	OTTHUMT00000040312.1	-	0.00	54	0	G	NM_001832		35763554	-1	tier1	-	no_errors	ENST00000259938	ensembl	human	known	74_37	missense	5.48	69	4	SNP	1.000	A
CNOT4	4850	genome.wustl.edu	37	7	135082950	135082950	+	Missense_Mutation	SNP	T	T	C			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr7:135082950T>C	ENST00000315544.5	-	8	1129	c.850A>G	c.(850-852)Agt>Ggt	p.S284G	CNOT4_ENST00000428680.2_Missense_Mutation_p.S281G|CNOT4_ENST00000414802.1_Missense_Mutation_p.S284G|CNOT4_ENST00000423368.2_Missense_Mutation_p.S284G|CNOT4_ENST00000356162.4_Missense_Mutation_p.S284G|CNOT4_ENST00000541284.1_Missense_Mutation_p.S284G|CNOT4_ENST00000361528.4_Missense_Mutation_p.S281G|CNOT4_ENST00000451834.1_Missense_Mutation_p.S281G	NM_001190848.1	NP_001177777.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	284					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|protein autoubiquitination (GO:0051865)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						TTCCCTATACTGAGAGAATCT	0.348																																					Ovarian(51;766 1130 5502 35047 50875)												0													96.0	89.0	91.0					7																	135082950		1803	4072	5875	SO:0001583	missense	0			AF180475	CCDS43650.1, CCDS47719.1, CCDS55164.1, CCDS55165.1, CCDS55166.1, CCDS55167.1	7q33	2013-09-19			ENSG00000080802	ENSG00000080802		"""RNA binding motif (RRM) containing"""	7880	protein-coding gene	gene with protein product		604911		NOT4		10637334	Standard	NM_013316		Approved	CLONE243, NOT4H	uc011kpy.2	O95628	OTTHUMG00000155568	ENST00000315544.5:c.850A>G	7.37:g.135082950T>C	ENSP00000326731:p.Ser284Gly		B7Z6I4|E7ET38|F8VQP3|O95339|O95627|Q8IYM7|Q8NCL0|Q9NPQ1|Q9NZN6	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom_euk,pfscan_Znf_RING,pfscan_RRM_dom	p.S284G	ENST00000315544.5	37	c.850	CCDS55166.1	7	.	.	.	.	.	.	.	.	.	.	T	14.49	2.551804	0.45487	.	.	ENSG00000080802	ENST00000541284;ENST00000451834;ENST00000423368;ENST00000262563;ENST00000361528;ENST00000414802;ENST00000356162;ENST00000428680;ENST00000315544	T;T;T;T;T;T;T;T	0.57752	0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38	5.22	5.22	0.72569	.	0.121826	0.85682	D	0.000000	T	0.40423	0.1116	L	0.29908	0.895	0.53688	D	0.999973	B;B;B;B;B;B	0.09022	0.0;0.001;0.001;0.002;0.0;0.001	B;B;B;B;B;B	0.09377	0.001;0.001;0.002;0.004;0.002;0.002	T	0.21177	-1.0253	10	0.21014	T	0.42	-12.9325	14.2236	0.65843	0.0:0.0:0.0:1.0	.	281;284;284;281;284;281	E7ET38;F8VQP3;O95628;O95628-2;O95628-4;O95628-8	.;.;CNOT4_HUMAN;.;.;.	G	284;281;284;284;281;284;284;281;284	ENSP00000445508:S284G;ENSP00000388491:S281G;ENSP00000406777:S284G;ENSP00000354673:S281G;ENSP00000416532:S284G;ENSP00000348485:S284G;ENSP00000399108:S281G;ENSP00000326731:S284G	ENSP00000262563:S284G	S	-	1	0	CNOT4	134733490	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.579000	0.67457	2.091000	0.63221	0.528000	0.53228	AGT	CNOT4	-	NULL	ENSG00000080802		0.348	CNOT4-201	KNOWN	basic|CCDS	protein_coding	CNOT4	HGNC	protein_coding		-	0.00	108	0	T	NM_013316		135082950	-1	tier1	-	no_errors	ENST00000541284	ensembl	human	known	74_37	missense	5.26	72	4	SNP	1.000	C
COL10A1	1300	genome.wustl.edu	37	6	116442374	116442374	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr6:116442374C>T	ENST00000327673.4	-	2	1312	c.905G>A	c.(904-906)gGc>gAc	p.G302D	NT5DC1_ENST00000319550.4_Intron|AL121963.1_ENST00000430695.1_Missense_Mutation_p.P10S|COL10A1_ENST00000243222.4_Missense_Mutation_p.G302D			Q03692	COAA1_HUMAN	collagen, type X, alpha 1	302	Triple-helical region.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	cell cortex (GO:0005938)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metal ion binding (GO:0046872)	p.G302D(1)		central_nervous_system(1)|endometrium(2)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	13		all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234)		all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711)		GCCTGGCAAGCCTGGTTTCCC	0.642																																																	1	Substitution - Missense(1)	lung(1)											28.0	32.0	31.0					6																	116442374		2191	4290	6481	SO:0001583	missense	0				CCDS5105.1	6q21-q22	2013-01-16	2008-07-29		ENSG00000123500	ENSG00000123500		"""Collagens"""	2185	protein-coding gene	gene with protein product	"""Schmid metaphyseal chondrodysplasia"""	120110				2037056	Standard	XM_006715332		Approved		uc003pwm.3	Q03692	OTTHUMG00000015426	ENST00000327673.4:c.905G>A	6.37:g.116442374C>T	ENSP00000327368:p.Gly302Asp		A1L4P2	Missense_Mutation	SNP	pfam_Collagen,pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q	p.G302D	ENST00000327673.4	37	c.905	CCDS5105.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.91|17.91	3.504811|3.504811	0.64410|0.64410	.|.	.|.	ENSG00000123500|ENSG00000234188	ENST00000243222;ENST00000327673|ENST00000430695	D;D|.	0.99619|.	-6.28;-6.28|.	5.24|5.24	5.24|5.24	0.73138|0.73138	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.90728|0.90728	0.7090|0.7090	H|H	0.98866|0.98866	4.355|4.355	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|D	0.93721|0.93721	0.7033|0.7033	10|6	0.72032|0.87932	D|D	0.01|0	.|.	19.3787|19.3787	0.94523|0.94523	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	302|.	Q03692|.	COAA1_HUMAN|.	D|S	302|10	ENSP00000243222:G302D;ENSP00000327368:G302D|.	ENSP00000243222:G302D|ENSP00000415795:P10S	G|P	-|+	2|1	0|0	COL10A1|AL121963.1	116549067|116549067	1.000000|1.000000	0.71417|0.71417	0.987000|0.987000	0.45799|0.45799	0.972000|0.972000	0.66771|0.66771	7.609000|7.609000	0.82925|0.82925	2.884000|2.884000	0.98904|0.98904	0.655000|0.655000	0.94253|0.94253	GGC|CCT	COL10A1	-	NULL	ENSG00000123500		0.642	COL10A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL10A1	HGNC	protein_coding	OTTHUMT00000041926.1		0.00	23	0	C			116442374	-1			no_errors	ENST00000243222	ensembl	human	known	74_37	missense	6.06	31	2	SNP	1.000	T
COL3A1	1281	genome.wustl.edu	37	2	189870168	189870168	+	Silent	SNP	T	T	A			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr2:189870168T>A	ENST00000304636.3	+	41	3194	c.3024T>A	c.(3022-3024)ggT>ggA	p.G1008G	COL3A1_ENST00000317840.5_Intron	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1008	Triple-helical region.				aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	GTACAGCTGGTGAACCTGGAA	0.468																																																	0													83.0	84.0	84.0					2																	189870168		2203	4300	6503	SO:0001819	synonymous_variant	0			X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"""Collagens"""	2201	protein-coding gene	gene with protein product		120180	"""Ehlers-Danlos syndrome type IV, autosomal dominant"""	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.3024T>A	2.37:g.189870168T>A			D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Silent	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C	p.G1008	ENST00000304636.3	37	c.3024	CCDS2297.1	2																																																																																			COL3A1	-	pfam_Collagen	ENSG00000168542		0.468	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL3A1	HGNC	protein_coding	OTTHUMT00000255899.3	-	0.00	87	0	T	NM_000090		189870168	+1	tier1	-	no_errors	ENST00000304636	ensembl	human	known	74_37	silent	10.48	94	11	SNP	1.000	A
CPT1A	1374	genome.wustl.edu	37	11	68530168	68530168	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr11:68530168C>T	ENST00000265641.5	-	15	1956	c.1802G>A	c.(1801-1803)aGg>aAg	p.R601K	CPT1A_ENST00000540367.1_Missense_Mutation_p.R601K|CPT1A_ENST00000539743.1_Missense_Mutation_p.R601K|CPT1A_ENST00000376618.2_Missense_Mutation_p.R601K|CPT1A_ENST00000537756.2_5'UTR	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	601					carnitine metabolic process (GO:0009437)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|eating behavior (GO:0042755)|epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|glucose metabolic process (GO:0006006)|long-chain fatty acid metabolic process (GO:0001676)|positive regulation of fatty acid beta-oxidation (GO:0032000)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		Glyburide(DB01016)|L-Carnitine(DB00583)|Perhexiline(DB01074)	GGTCTCCGTCCTCCCCTCTCG	0.612																																																	0													73.0	64.0	67.0					11																	68530168		2200	4294	6494	SO:0001583	missense	0			L39211	CCDS8185.1, CCDS31624.1	11q13.2	2007-07-26				ENSG00000110090	2.3.1.21		2328	protein-coding gene	gene with protein product		600528		CPT1		7892212, 9070950	Standard	NM_001876		Approved	CPT1-L, L-CPT1	uc001oog.4	P50416		ENST00000265641.5:c.1802G>A	11.37:g.68530168C>T	ENSP00000265641:p.Arg601Lys		Q8TCU0|Q9BWK0	Missense_Mutation	SNP	pfam_Carn_acyl_trans	p.R601K	ENST00000265641.5	37	c.1802	CCDS8185.1	11	.	.	.	.	.	.	.	.	.	.	C	29.4	5.000625	0.93227	.	.	ENSG00000110090	ENST00000540367;ENST00000376618;ENST00000265641;ENST00000538308;ENST00000539743	D;D;D;D	0.97455	-4.39;-4.39;-4.39;-4.39	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	D	0.98454	0.9485	H	0.98629	4.285	0.80722	D	1	B;B	0.29671	0.254;0.214	B;B	0.35971	0.215;0.207	D	0.98951	1.0794	10	0.87932	D	0	.	19.2284	0.93827	0.0:1.0:0.0:0.0	.	601;601	P50416;P50416-2	CPT1A_HUMAN;.	K	601	ENSP00000439084:R601K;ENSP00000365803:R601K;ENSP00000265641:R601K;ENSP00000446108:R601K	ENSP00000265641:R601K	R	-	2	0	CPT1A	68286744	1.000000	0.71417	0.975000	0.42487	0.950000	0.60333	7.354000	0.79424	2.610000	0.88304	0.655000	0.94253	AGG	CPT1A	-	pfam_Carn_acyl_trans	ENSG00000110090		0.612	CPT1A-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CPT1A	HGNC	protein_coding	OTTHUMT00000397457.2	-	0.00	38	0	C	NM_001876		68530168	-1	tier1	-	no_errors	ENST00000265641	ensembl	human	known	74_37	missense	8.00	46	4	SNP	1.000	T
CPZ	8532	genome.wustl.edu	37	4	8605848	8605848	+	Silent	SNP	G	G	A			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr4:8605848G>A	ENST00000360986.4	+	4	816	c.642G>A	c.(640-642)ggG>ggA	p.G214G	CPZ_ENST00000382480.2_Silent_p.G77G|CPZ_ENST00000429646.2_5'UTR|CPZ_ENST00000315782.6_Silent_p.G203G	NM_001014447.2	NP_001014447	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	214					proteolysis (GO:0006508)|Wnt signaling pathway (GO:0016055)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						ACAGCATCGGGCGCAGCTTCG	0.692																																																	0													15.0	14.0	15.0					4																	8605848		2188	4290	6478	SO:0001819	synonymous_variant	0			U83411	CCDS3404.1, CCDS33953.1, CCDS43212.1	4p16.1	2012-02-10			ENSG00000109625	ENSG00000109625			2333	protein-coding gene	gene with protein product	"""metallocarboxypeptidase Z"""	603105				9099699	Standard	NM_001014447		Approved		uc003glm.3	Q66K79	OTTHUMG00000090513	ENST00000360986.4:c.642G>A	4.37:g.8605848G>A			O00520|Q96MX2	Silent	SNP	pfam_Peptidase_M14,pfam_Frizzled_dom,superfamily_Frizzled_dom,superfamily_CarboxyPept-like_regulatory,smart_Frizzled_dom,smart_Peptidase_M14,prints_Peptidase_M14,pfscan_Frizzled_dom	p.G214	ENST00000360986.4	37	c.642	CCDS33953.1	4																																																																																			CPZ	-	pfam_Peptidase_M14,prints_Peptidase_M14	ENSG00000109625		0.692	CPZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CPZ	HGNC	protein_coding	OTTHUMT00000207001.4	-	0.00	14	0	G	NM_003652		8605848	+1	tier1	-	no_errors	ENST00000360986	ensembl	human	known	74_37	silent	65.00	7	13	SNP	0.685	A
CREBBP	1387	genome.wustl.edu	37	16	3824652	3824652	+	Nonsense_Mutation	SNP	A	A	T			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr16:3824652A>T	ENST00000262367.5	-	12	3010	c.2201T>A	c.(2200-2202)tTg>tAg	p.L734*	CREBBP_ENST00000382070.3_Nonsense_Mutation_p.L696*	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	734					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)		TGCTTGTGGCAACTGGACGTT	0.507			"""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													129.0	104.0	112.0					16																	3824652		2197	4300	6497	SO:0001587	stop_gained	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.2201T>A	16.37:g.3824652A>T	ENSP00000262367:p.Leu734*		D3DUC9|O00147|Q16376|Q4LE28	Nonsense_Mutation	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.L734*	ENST00000262367.5	37	c.2201	CCDS10509.1	16	.	.	.	.	.	.	.	.	.	.	A	48	14.298613	0.99789	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	.	.	.	4.79	4.79	0.61399	.	0.154396	0.41001	D	0.000973	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.9113	14.7838	0.69787	1.0:0.0:0.0:0.0	.	.	.	.	X	734;764;696	.	ENSP00000262367:L734X	L	-	2	0	CREBBP	3764653	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.326000	0.90010	2.151000	0.67156	0.455000	0.32223	TTG	CREBBP	-	NULL	ENSG00000005339		0.507	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CREBBP	HGNC	protein_coding	OTTHUMT00000251591.2	-	0.00	73	0	A	NM_004380		3824652	-1	tier1	-	no_errors	ENST00000262367	ensembl	human	known	74_37	nonsense	6.56	57	4	SNP	1.000	T
CROCC	9696	genome.wustl.edu	37	1	17280821	17280821	+	Missense_Mutation	SNP	G	G	C	rs6669627	byFrequency	TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr1:17280821G>C	ENST00000375541.5	+	22	3359	c.3290G>C	c.(3289-3291)cGa>cCa	p.R1097P	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin											breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		CGGCAGAAACGAGATGCCCAG	0.627																																																	0													43.0	48.0	46.0					1																	17280821		2203	4300	6503	SO:0001583	missense	0			AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"""rootletin, ciliary rootlet protein"""	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.3290G>C	1.37:g.17280821G>C	ENSP00000364691:p.Arg1097Pro			Missense_Mutation	SNP	superfamily_Prefoldin,superfamily_t-SNARE	p.R1097P	ENST00000375541.5	37	c.3290	CCDS30616.1	1	18	0.008241758241758242	4	0.008130081300813009	3	0.008287292817679558	2	0.0034965034965034965	9	0.011873350923482849	G	17.39	3.377554	0.61735	.	.	ENSG00000058453	ENST00000375541;ENST00000445545	T	0.56941	0.43	4.5	4.5	0.54988	.	.	.	.	.	T	0.65749	0.2721	M	0.77313	2.365	0.54753	D	0.999985	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.998	T	0.72839	-0.4171	9	0.52906	T	0.07	.	15.5037	0.75722	0.0:0.0:1.0:0.0	rs6669627	960;400;1097	A1L0S8;Q5TZA2-2;Q5TZA2	.;.;CROCC_HUMAN	P	1097;978	ENSP00000364691:R1097P	ENSP00000364691:R1097P	R	+	2	0	CROCC	17153408	0.997000	0.39634	1.000000	0.80357	0.750000	0.42670	2.928000	0.48908	2.428000	0.82296	0.561000	0.74099	CGA	CROCC	-	NULL	ENSG00000058453		0.627	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CROCC	HGNC	protein_coding	OTTHUMT00000006249.2		0.00	49	0	G	NM_014675		17280821	+1			no_errors	ENST00000375541	ensembl	human	known	74_37	missense	9.26	49	5	SNP	1.000	C
CSMD1	64478	genome.wustl.edu	37	8	2813198	2813198	+	Frame_Shift_Del	DEL	G	G	-			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr8:2813198delG	ENST00000520002.1	-	65	10465	c.9910delC	c.(9910-9912)catfs	p.H3304fs	CSMD1_ENST00000542608.1_Frame_Shift_Del_p.H3126fs|CSMD1_ENST00000602557.1_Frame_Shift_Del_p.H3304fs|CSMD1_ENST00000537824.1_Frame_Shift_Del_p.H3303fs|CSMD1_ENST00000602723.1_Frame_Shift_Del_p.H3127fs|CSMD1_ENST00000400186.3_Frame_Shift_Del_p.H3127fs			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3304	Sushi 28. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AAGCCTGGATGGCAGGTGTAC	0.502																																																	0													142.0	138.0	140.0					8																	2813198		1965	4166	6131	SO:0001589	frameshift_variant	0					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.9910delC	8.37:g.2813198delG	ENSP00000430733:p.His3304fs		Q0H0J5|Q96QU9|Q96RM4	Frame_Shift_Del	DEL	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.H3304fs	ENST00000520002.1	37	c.9910		8																																																																																			CSMD1	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000183117		0.502	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	HGNC	protein_coding	OTTHUMT00000374500.2		0.00	66	0	G	NM_033225		2813198	-1	tier1		no_errors	ENST00000520002	ensembl	human	known	74_37	frame_shift_del	55.56	40	50	DEL	1.000	-
CSNK1A1L	122011	genome.wustl.edu	37	13	37678734	37678734	+	Silent	SNP	C	C	T			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr13:37678734C>T	ENST00000379800.3	-	1	1069	c.660G>A	c.(658-660)ccG>ccA	p.P220P		NM_145203.5	NP_660204.2	Q8N752	KC1AL_HUMAN	casein kinase 1, alpha 1-like	220	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		P -> L (in dbSNP:rs56252856). {ECO:0000269|PubMed:17344846}.		cell morphogenesis (GO:0000902)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)		GTCCTTGCCACGGCAGGCTGG	0.423																																																	0													102.0	102.0	102.0					13																	37678734		2203	4300	6503	SO:0001819	synonymous_variant	0			BC028723	CCDS9363.1	13q13.2	2008-02-05			ENSG00000180138	ENSG00000180138			20289	protein-coding gene	gene with protein product							Standard	NM_145203		Approved	MGC33182	uc001uwm.1	Q8N752	OTTHUMG00000016748	ENST00000379800.3:c.660G>A	13.37:g.37678734C>T			Q5T2N2	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.P220	ENST00000379800.3	37	c.660	CCDS9363.1	13																																																																																			CSNK1A1L	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000180138		0.423	CSNK1A1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSNK1A1L	HGNC	protein_coding	OTTHUMT00000044563.1	-	0.00	67	0	C	NM_145203		37678734	-1	tier1	-	no_errors	ENST00000379800	ensembl	human	known	74_37	silent	68.81	34	75	SNP	0.957	T
CXorf30	645090	genome.wustl.edu	37	X	36385232	36385232	+	Missense_Mutation	SNP	A	A	G			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chrX:36385232A>G	ENST00000378657.4	+	16	2161	c.1513A>G	c.(1513-1515)Agt>Ggt	p.S505G	RP11-87M18.2_ENST00000455438.2_RNA	NM_001098843.4	NP_001092313.2	A6PW82	CX030_HUMAN	chromosome X open reading frame 30	505										breast(1)|lung(2)|stomach(1)	4						TAGGCTGAAAAGTCAGACAAG	0.328																																																	0													186.0	137.0	152.0					X																	36385232		692	1590	2282	SO:0001583	missense	0				CCDS55396.1	Xp21.1	2014-08-07			ENSG00000205081	ENSG00000205081			27298	protein-coding gene	gene with protein product							Standard	NM_001098843		Approved		uc011mkc.3	A6PW82	OTTHUMG00000021353	ENST00000378657.4:c.1513A>G	X.37:g.36385232A>G	ENSP00000367926:p.Ser505Gly			Missense_Mutation	SNP	NULL	p.S505G	ENST00000378657.4	37	c.1513	CCDS55396.1	X	.	.	.	.	.	.	.	.	.	.	A	9.452	1.090839	0.20471	.	.	ENSG00000205081	ENST00000378653;ENST00000378657;ENST00000446478	T;T	0.27104	1.69;1.7	5.34	4.17	0.49024	.	0.124397	0.56097	N	0.000032	T	0.29458	0.0734	L	0.52905	1.665	0.24738	N	0.993053	P	0.51147	0.942	P	0.47645	0.553	T	0.14282	-1.0478	10	0.72032	D	0.01	-14.534	8.4969	0.33134	0.9062:0.0:0.0938:0.0	.	505	A6PW82	CX030_HUMAN	G	790;505;110	ENSP00000367922:S790G;ENSP00000367926:S505G	ENSP00000367922:S790G	S	+	1	0	CXorf30	36295153	1.000000	0.71417	0.694000	0.30210	0.077000	0.17291	4.532000	0.60608	0.686000	0.31488	0.441000	0.28932	AGT	CXorf30	-	NULL	ENSG00000205081		0.328	CXorf30-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CXorf30	HGNC	protein_coding		-	0.00	33	0	A	NP_001092313		36385232	+1	tier1	-	no_errors	ENST00000378657	ensembl	human	known	74_37	missense	80.00	5	20	SNP	1.000	G
CYLD	1540	genome.wustl.edu	37	16	50827509	50827509	+	Missense_Mutation	SNP	A	A	C			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr16:50827509A>C	ENST00000427738.3	+	16	2608	c.2403A>C	c.(2401-2403)gaA>gaC	p.E801D	CYLD_ENST00000311559.9_Missense_Mutation_p.E801D|CYLD_ENST00000540145.1_Missense_Mutation_p.E801D|CYLD_ENST00000569418.1_Missense_Mutation_p.E798D|CYLD_ENST00000398568.2_Missense_Mutation_p.E798D|RP11-327F22.4_ENST00000575917.1_RNA|CYLD_ENST00000566206.1_Missense_Mutation_p.E798D|RP11-327F22.4_ENST00000564510.1_RNA|CYLD_ENST00000564326.1_Missense_Mutation_p.E798D|CYLD_ENST00000568704.2_Missense_Mutation_p.E616D			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	801	USP.				cell cycle (GO:0007049)|innate immune response (GO:0045087)|necroptotic process (GO:0070266)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|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)|protein K63-linked deubiquitination (GO:0070536)|regulation of intrinsic apoptotic signaling pathway (GO:2001242)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of mitotic cell cycle (GO:0007346)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|microtubule (GO:0005874)|nucleus (GO:0005634)	Lys63-specific deubiquitinase activity (GO:0061578)|proline-rich region binding (GO:0070064)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				AGTGTAGAGAATGCTACGACG	0.428			"""Mis, N, F, S"""		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis																														yes	Rec	yes	Familial cylindromatosis	16	16q12-q13	1540	familial cylindromatosis gene		E	0													173.0	158.0	163.0					16																	50827509		1901	4130	6031	SO:0001583	missense	0	Familial Cancer Database	;FADC, Turban Tumor syndrome, Epithelioma Adenoides Cysticum of Brooke, Hereditary Multiple Benign Cystic Epithelioma, Dermal Eccrine Cylindromatosis, Brooke-Spiegler s.	AB020656	CCDS42164.1, CCDS45482.1	16q12-q13	2014-09-17							2584	protein-coding gene	gene with protein product	"""ubiquitin specific peptidase like 2"""	605018		CYLD1		7493027	Standard	NM_015247		Approved	KIAA0849, USPL2	uc002egq.1	Q9NQC7		ENST00000427738.3:c.2403A>C	16.37:g.50827509A>C	ENSP00000392025:p.Glu801Asp		O94934|Q7L3N6|Q96EH0|Q9NZX9	Missense_Mutation	SNP	pfam_CAP-Gly_domain,pfam_Peptidase_C19/C67,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain,pfscan_Peptidase_C19/C67	p.E801D	ENST00000427738.3	37	c.2403	CCDS45482.1	16	.	.	.	.	.	.	.	.	.	.	A	14.04	2.417278	0.42918	.	.	ENSG00000083799	ENST00000540145;ENST00000311559;ENST00000427738;ENST00000398568	T;T;T;T	0.74002	-0.78;-0.78;-0.8;-0.78	5.25	-4.63	0.03359	.	0.102765	0.64402	D	0.000002	T	0.58566	0.2131	N	0.25286	0.73	0.52501	D	0.999958	B;B	0.20550	0.046;0.037	B;B	0.22601	0.04;0.024	T	0.16100	-1.0414	10	0.30854	T	0.27	-30.5939	18.5913	0.91214	0.3232:0.0:0.6768:0.0	.	798;798	A8KAB0;Q9NQC7-2	.;.	D	801;801;798;798	ENSP00000445447:E801D;ENSP00000308928:E801D;ENSP00000392025:E798D;ENSP00000381574:E798D	ENSP00000308928:E801D	E	+	3	2	CYLD	49385010	0.950000	0.32346	0.793000	0.32043	0.941000	0.58515	0.108000	0.15396	-1.180000	0.02734	-0.290000	0.09829	GAA	CYLD	-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	ENSG00000083799		0.428	CYLD-010	KNOWN	basic|CCDS	protein_coding	CYLD	HGNC	protein_coding	OTTHUMT00000422998.2	-	0.00	77	0	A			50827509	+1	tier1	-	no_errors	ENST00000311559	ensembl	human	known	74_37	missense	26.97	65	24	SNP	0.838	C
CYP11B1	1584	genome.wustl.edu	37	8	143958291	143958291	+	Silent	SNP	C	C	T	rs61751154		TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr8:143958291C>T	ENST00000292427.4	-	4	638	c.606G>A	c.(604-606)ttG>ttA	p.L202L	CYP11B1_ENST00000377675.3_Silent_p.L273L|CYP11B1_ENST00000517471.1_Silent_p.L202L	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	202					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|glucocorticoid biosynthetic process (GO:0006704)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|mineralocorticoid biosynthetic process (GO:0006705)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Cimetidine(DB00501)|Clotrimazole(DB00257)|Etomidate(DB00292)|Fluconazole(DB00196)|Hydrocortisone(DB00741)|Ketoconazole(DB01026)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Miconazole(DB01110)|Mitotane(DB00648)|Phenytoin(DB00252)|Spironolactone(DB00421)	CAAAAAGAGCCAAGTTGCTGG	0.642									Familial Hyperaldosteronism type I				.|||	1	0.000199681	0.0008	0.0	5008	,	,		19690	0.0		0.0	False		,,,				2504	0.0																0													37.0	38.0	38.0					8																	143958291		2203	4300	6503	SO:0001819	synonymous_variant	0	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	D16153	CCDS6392.1, CCDS34953.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000160882	ENSG00000160882	1.14.15.4	"""Cytochrome P450s"""	2591	protein-coding gene	gene with protein product	"""steroid 11-beta-monooxygenase"""	610613	"""cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1"""	CYP11B		1303253	Standard	XM_005250807		Approved	P450C11, FHI, CPN1	uc003yxi.3	P15538	OTTHUMG00000164637	ENST00000292427.4:c.606G>A	8.37:g.143958291C>T			Q14095|Q4VAQ8|Q4VAQ9|Q9UML2	Silent	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_mitochondrial,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B,prints_Cyt_P450	p.L202	ENST00000292427.4	37	c.606	CCDS6392.1	8																																																																																			CYP11B1	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000160882		0.642	CYP11B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP11B1	HGNC	protein_coding	OTTHUMT00000379475.2		0.00	54	0	C			143958291	-1			no_errors	ENST00000292427	ensembl	human	known	74_37	silent	6.03	109	7	SNP	0.000	T
CYP2J2	1573	genome.wustl.edu	37	1	60377901	60377901	+	Missense_Mutation	SNP	C	C	G			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr1:60377901C>G	ENST00000371204.3	-	3	499	c.456G>C	c.(454-456)aaG>aaC	p.K152N	CYP2J2_ENST00000492633.1_5'UTR	NM_000775.2	NP_000766.2	P51589	CP2J2_HUMAN	cytochrome P450, family 2, subfamily J, polypeptide 2	152					arachidonic acid metabolic process (GO:0019369)|epoxygenase P450 pathway (GO:0019373)|icosanoid metabolic process (GO:0006690)|linoleic acid metabolic process (GO:0043651)|regulation of heart contraction (GO:0008016)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	arachidonic acid 11,12-epoxygenase activity (GO:0008405)|arachidonic acid 14,15-epoxygenase activity (GO:0008404)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|linoleic acid epoxygenase activity (GO:0071614)			NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1)	26	all_cancers(7;0.000396)				Apixaban(DB06605)|Astemizole(DB00637)|Cholecalciferol(DB00169)|Levomilnacipran(DB08918)|Masoprocol(DB00179)|Rivaroxaban(DB06228)	CTAAGCTCTTCTTTCCTAAAC	0.463																																																	0													198.0	157.0	171.0					1																	60377901		2203	4300	6503	SO:0001583	missense	0			BC032594	CCDS613.1	1p31.3-p31.2	2008-02-05	2003-01-14		ENSG00000134716	ENSG00000134716		"""Cytochrome P450s"""	2634	protein-coding gene	gene with protein product		601258	"""cytochrome P450, subfamily IIJ (arachidonic acid epoxygenase) polypeptide 2"""			9570962	Standard	NM_000775		Approved		uc001czq.3	P51589	OTTHUMG00000008991	ENST00000371204.3:c.456G>C	1.37:g.60377901C>G	ENSP00000360247:p.Lys152Asn		B2RD33|Q8TF13	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2J-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B,prints_Cyt_P450_E_grp-I_CYP2D-like	p.K152N	ENST00000371204.3	37	c.456	CCDS613.1	1	.	.	.	.	.	.	.	.	.	.	C	19.31	3.803835	0.70682	.	.	ENSG00000134716	ENST00000371204	T	0.72167	-0.63	5.81	4.9	0.64082	.	0.247960	0.46758	D	0.000276	D	0.82527	0.5056	M	0.85630	2.765	0.47065	D	0.999302	P	0.40000	0.698	P	0.55508	0.777	D	0.84366	0.0541	10	0.87932	D	0	.	10.6587	0.45690	0.0:0.8466:0.0:0.1534	.	152	P51589	CP2J2_HUMAN	N	152	ENSP00000360247:K152N	ENSP00000360247:K152N	K	-	3	2	CYP2J2	60150489	0.998000	0.40836	0.999000	0.59377	0.945000	0.59286	0.664000	0.25068	1.485000	0.48380	0.650000	0.86243	AAG	CYP2J2	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000134716		0.463	CYP2J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2J2	HGNC	protein_coding	OTTHUMT00000024940.1	-	0.00	86	0	C	NM_000775		60377901	-1	tier1	-	no_errors	ENST00000371204	ensembl	human	known	74_37	missense	21.43	66	18	SNP	1.000	G
DDX60L	91351	genome.wustl.edu	37	4	169342929	169342929	+	Silent	SNP	C	C	T			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr4:169342929C>T	ENST00000511577.1	-	17	2623	c.2376G>A	c.(2374-2376)gtG>gtA	p.V792V	DDX60L_ENST00000260184.7_Silent_p.V792V|DDX60L_ENST00000505890.1_Silent_p.V792V			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	792	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.						ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		GTGCAACGTACACAACCACCC	0.473																																																	0													228.0	230.0	229.0					4																	169342929		2203	4300	6503	SO:0001819	synonymous_variant	0			AK092461	CCDS47161.1	4q32.3	2008-01-08				ENSG00000181381			26429	protein-coding gene	gene with protein product							Standard	XM_005263341		Approved	FLJ31033	uc003irq.4	Q5H9U9		ENST00000511577.1:c.2376G>A	4.37:g.169342929C>T			Q96ND6	Silent	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.V792	ENST00000511577.1	37	c.2376		4																																																																																			DDX60L	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd	ENSG00000181381		0.473	DDX60L-001	KNOWN	basic|appris_principal	protein_coding	DDX60L	HGNC	protein_coding	OTTHUMT00000364839.1	-	0.00	68	0	C	NM_001012967		169342929	-1	tier1	-	no_errors	ENST00000260184	ensembl	human	known	74_37	silent	5.97	63	4	SNP	0.856	T
DLG5	9231	genome.wustl.edu	37	10	79556267	79556267	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr10:79556267G>T	ENST00000372391.2	-	28	5255	c.5250C>A	c.(5248-5250)gaC>gaA	p.D1750E	DLG5_ENST00000372388.2_Missense_Mutation_p.D1410E|DLG5_ENST00000459739.1_5'UTR	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1750	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			CCTTCACCACGTCCAGCAAAG	0.602																																																	0													115.0	96.0	103.0					10																	79556267		2203	4300	6503	SO:0001583	missense	0			U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"""discs, large (Drosophila) homolog 5"""			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.5250C>A	10.37:g.79556267G>T	ENSP00000361467:p.Asp1750Glu		A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Missense_Mutation	SNP	pfam_PDZ,pfam_DUF622,pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,superfamily_PDZ,superfamily_SH3_domain,superfamily_DEATH-like_dom,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_CARD,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like	p.D1750E	ENST00000372391.2	37	c.5250	CCDS7353.2	10	.	.	.	.	.	.	.	.	.	.	G	10.43	1.349055	0.24426	.	.	ENSG00000151208	ENST00000372391;ENST00000424842;ENST00000372388	T;T;T	0.17854	2.25;2.25;2.25	5.86	-11.7	0.00046	Guanylate kinase/L-type calcium channel (1);	0.000000	0.40818	N	0.001010	T	0.11580	0.0282	L	0.37850	1.14	0.34909	D	0.747297	B;B	0.30727	0.207;0.292	B;B	0.34489	0.084;0.184	T	0.47947	-0.9077	10	0.07325	T	0.83	.	23.9578	0.99987	0.8995:0.0:0.1005:0.0	.	1750;1410	Q8TDM6;Q8TDM6-2	DLG5_HUMAN;.	E	1750;711;1410	ENSP00000361467:D1750E;ENSP00000394797:D711E;ENSP00000361464:D1410E	ENSP00000361464:D1410E	D	-	3	2	DLG5	79226273	0.022000	0.18835	0.099000	0.21106	0.743000	0.42351	-0.364000	0.07583	-2.759000	0.00371	-1.686000	0.00732	GAC	DLG5	-	superfamily_P-loop_NTPase,smart_GK/Ca_channel_bsu	ENSG00000151208		0.602	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLG5	HGNC	protein_coding	OTTHUMT00000048900.2	-	0.00	42	0	G			79556267	-1	tier1	-	no_errors	ENST00000372391	ensembl	human	known	74_37	missense	8.89	41	4	SNP	0.488	T
DNAH8	1769	genome.wustl.edu	37	6	38704935	38704935	+	Silent	SNP	A	A	G			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr6:38704935A>G	ENST00000359357.3	+	4	458	c.204A>G	c.(202-204)gcA>gcG	p.A68A	DNAH8_ENST00000441566.1_Silent_p.A68A|DNAH8_ENST00000449981.2_Silent_p.A285A			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	68					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CTGTTCTTGCAACAAACAACT	0.388																																																	0													99.0	101.0	100.0					6																	38704935		2203	4300	6503	SO:0001819	synonymous_variant	0			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.204A>G	6.37:g.38704935A>G			O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Silent	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.A68	ENST00000359357.3	37	c.204		6																																																																																			DNAH8	-	NULL	ENSG00000124721		0.388	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	DNAH8	HGNC	protein_coding	OTTHUMT00000043574.1		0.00	35	0	A	NM_001206927		38704935	+1			no_errors	ENST00000359357	ensembl	human	known	74_37	silent	6.25	45	3	SNP	0.991	G
DNAJC17	55192	genome.wustl.edu	37	15	41071393	41071393	+	Intron	SNP	G	G	T			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr15:41071393G>T	ENST00000220496.4	-	4	326					NM_018163.2	NP_060633.1	Q9NVM6	DJC17_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 17						negative regulation of transcription from RNA polymerase II promoter (GO:0000122)		nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(1)|kidney(1)|large_intestine(2)|pancreas(1)|skin(1)	6		all_cancers(109;4.16e-14)|all_epithelial(112;9.68e-12)|Lung NSC(122;3.19e-09)|all_lung(180;6.45e-08)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		GGAAACCACAGGCCACCGAGC	0.498																																																	0													228.0	179.0	196.0					15																	41071393		2203	4300	6503	SO:0001627	intron_variant	0			AK001496	CCDS10065.1	15q15.1	2014-02-12			ENSG00000104129	ENSG00000104129		"""Heat shock proteins / DNAJ (HSP40)"", ""RNA binding motif (RRM) containing"""	25556	protein-coding gene	gene with protein product						12477932	Standard	NM_018163		Approved	FLJ10634	uc001zms.2	Q9NVM6	OTTHUMG00000130065	ENST00000220496.4:c.295+27C>A	15.37:g.41071393G>T				Missense_Mutation	SNP	pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,prints_DnaJ_domain,pfscan_DnaJ_domain	p.P108H	ENST00000220496.4	37	c.323	CCDS10065.1	15																																																																																			DNAJC17	-	NULL	ENSG00000104129		0.498	DNAJC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC17	HGNC	protein_coding	OTTHUMT00000252356.2	-	0.00	74	0	G	NM_018163		41071393	-1	tier1	-	no_errors	ENST00000560645	ensembl	human	known	74_37	missense	6.90	54	4	SNP	0.000	T
DOCK10	55619	genome.wustl.edu	37	2	225672674	225672674	+	Missense_Mutation	SNP	T	T	C			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr2:225672674T>C	ENST00000258390.7	-	32	3606	c.3539A>G	c.(3538-3540)aAa>aGa	p.K1180R	DOCK10_ENST00000409592.3_Missense_Mutation_p.K1174R	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1180					regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		CATTAGATTTTTTAGGACAGC	0.423																																																	0													90.0	86.0	87.0					2																	225672674		1875	4100	5975	SO:0001583	missense	0			AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"""Pleckstrin homology (PH) domain containing"""	23479	protein-coding gene	gene with protein product	"""zizimin3"""	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.3539A>G	2.37:g.225672674T>C	ENSP00000258390:p.Lys1180Arg		B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.K1180R	ENST00000258390.7	37	c.3539	CCDS46528.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.79|16.79	3.219747|3.219747	0.58560|0.58560	.|.	.|.	ENSG00000135905|ENSG00000135905	ENST00000422684|ENST00000409592;ENST00000258390	D|D;D	0.96856|0.96802	-4.15|-4.13;-4.13	5.27|5.27	5.27|5.27	0.74061|0.74061	.|.	0.160550|0.160550	0.53938|0.53938	D|D	0.000046|0.000046	D|D	0.90844|0.90844	0.7124|0.7124	N|N	0.17764|0.17764	0.52|0.52	0.40160|0.40160	D|D	0.977059|0.977059	.|B;B;B	.|0.21606	.|0.058;0.012;0.034	.|B;B;B	.|0.18561	.|0.022;0.004;0.022	D|D	0.87259|0.87259	0.2278|0.2278	8|10	0.87932|0.26408	D|T	0|0.33	.|.	9.9406|9.9406	0.41578|0.41578	0.0:0.0767:0.0:0.9233|0.0:0.0767:0.0:0.9233	.|.	.|1180;43;1174	.|Q96BY6;B4DF07;B3FL70	.|DOC10_HUMAN;.;.	E|R	71|1174;1180	ENSP00000395178:K71E|ENSP00000386694:K1174R;ENSP00000258390:K1180R	ENSP00000395178:K71E|ENSP00000258390:K1180R	K|K	-|-	1|2	0|0	DOCK10|DOCK10	225380918|225380918	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.733000|5.733000	0.68571|0.68571	2.097000|2.097000	0.63578|0.63578	0.477000|0.477000	0.44152|0.44152	AAA|AAA	DOCK10	-	superfamily_ARM-type_fold	ENSG00000135905		0.423	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK10	HGNC	protein_coding	OTTHUMT00000331246.1	-	0.00	24	0	T			225672674	-1	tier1	-	no_errors	ENST00000258390	ensembl	human	known	74_37	missense	37.04	17	10	SNP	1.000	C
DPP9	91039	genome.wustl.edu	37	19	4676632	4676632	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr19:4676632C>T	ENST00000598800.1	-	23	3041	c.2536G>A	c.(2536-2538)Gag>Aag	p.E846K	AC005594.3_ENST00000381796.1_RNA|DPP9_ENST00000262960.9_Missense_Mutation_p.E875K|DPP9_ENST00000594671.1_Intron			Q86TI2	DPP9_HUMAN	dipeptidyl-peptidase 9	846						cytoplasm (GO:0005737)|membrane (GO:0016020)	aminopeptidase activity (GO:0004177)|identical protein binding (GO:0042802)|serine-type peptidase activity (GO:0008236)			cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		TCGCCCGACTCGGGGCAGCGA	0.632																																																	0													26.0	31.0	29.0					19																	4676632		2039	4187	6226	SO:0001583	missense	0			AF452102	CCDS45928.1	19p13.3	2014-06-11	2006-01-12		ENSG00000142002	ENSG00000142002			18648	protein-coding gene	gene with protein product		608258	"""dipeptidylpeptidase 9"""				Standard	NM_139159		Approved		uc002mba.3	Q86TI2	OTTHUMG00000182040	ENST00000598800.1:c.2536G>A	19.37:g.4676632C>T	ENSP00000469603:p.Glu846Lys		O75273|O75868|Q1ZZB8|Q6AI37|Q6UAL0|Q6ZMT2|Q6ZNJ5|Q8N2J7|Q8N3F5|Q8WXD8|Q96NT8|Q9BVR3	Missense_Mutation	SNP	pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_X-Pro-like_dom	p.E875K	ENST00000598800.1	37	c.2623		19	.	.	.	.	.	.	.	.	.	.	C	35	5.482888	0.96307	.	.	ENSG00000142002	ENST00000357909;ENST00000381797;ENST00000262960	T	0.28666	1.6	4.23	4.23	0.50019	.	0.000000	0.85682	D	0.000000	T	0.43656	0.1257	L	0.37750	1.13	0.80722	D	1	D	0.76494	0.999	D	0.73708	0.981	T	0.19160	-1.0314	10	0.26408	T	0.33	-29.5785	15.9525	0.79850	0.0:1.0:0.0:0.0	.	875	Q1ZZB8	.	K	954;816;875	ENSP00000262960:E875K	ENSP00000262960:E875K	E	-	1	0	DPP9	4627632	1.000000	0.71417	0.997000	0.53966	0.864000	0.49448	7.668000	0.83897	2.066000	0.61787	0.561000	0.74099	GAG	DPP9	-	pfam_Peptidase_S9	ENSG00000142002		0.632	DPP9-026	NOVEL	basic	protein_coding	DPP9	HGNC	protein_coding	OTTHUMT00000459343.2	-	0.00	103	0	C			4676632	-1	tier1	-	no_errors	ENST00000262960	ensembl	human	known	74_37	missense	90.62	9	87	SNP	1.000	T
DST	667	genome.wustl.edu	37	6	56490035	56490035	+	Silent	SNP	G	G	T	rs200735287		TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr6:56490035G>T	ENST00000361203.3	-	31	4124	c.4117C>A	c.(4117-4119)Cgg>Agg	p.R1373R	DST_ENST00000370765.6_Silent_p.R1047R|DST_ENST00000244364.6_Silent_p.R1047R|DST_ENST00000446842.2_Silent_p.R1047R|DST_ENST00000518935.1_Silent_p.R1047R|DST_ENST00000421834.2_Silent_p.R1373R|DST_ENST00000370769.4_Silent_p.R1373R|DST_ENST00000370754.5_Silent_p.R1551R|DST_ENST00000312431.6_Silent_p.R1373R|DST_ENST00000370788.2_Silent_p.R1373R			Q03001	DYST_HUMAN	dystonin	1373					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ACCATGGCCCGGTAGGTCATT	0.343																																																	0													140.0	142.0	141.0					6																	56490035		2203	4300	6503	SO:0001819	synonymous_variant	0			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.4117C>A	6.37:g.56490035G>T			B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Silent	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom	p.R1551	ENST00000361203.3	37	c.4651		6																																																																																			DST	-	superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin	ENSG00000151914		0.343	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3		0.00	112	0	G	NM_001723		56490035	-1			no_errors	ENST00000370754	ensembl	human	known	74_37	silent	5.26	54	3	SNP	1.000	T
EBF4	57593	genome.wustl.edu	37	20	2736210	2736210	+	Intron	SNP	C	C	T			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr20:2736210C>T	ENST00000609451.1	+	15	1612				EBF4_ENST00000380648.4_Intron|EBF4_ENST00000477287.1_3'UTR			Q9BQW3	COE4_HUMAN	early B-cell factor 4						multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										CTGGTGCTGTCTCCCTGTTGT	0.692																																																	0																																										SO:0001627	intron_variant	0			BC019106	CCDS46573.1	20p13	2008-10-23			ENSG00000088881	ENSG00000088881			29278	protein-coding gene	gene with protein product		609935				10718198	Standard	NM_001110514		Approved	KIAA1442, COE4, RP5-860F19.3, O/E-4	uc002wgt.4	Q9BQW3	OTTHUMG00000031709	ENST00000609451.1:c.1541-63C>T	20.37:g.2736210C>T			Q1MTP7|Q5JY53|Q9NUB6|Q9P2A6	RNA	SNP	-	NULL	ENST00000609451.1	37	NULL		20																																																																																			EBF4	-	-	ENSG00000088881		0.692	EBF4-011	PUTATIVE	basic|appris_candidate_longest	protein_coding	EBF4	HGNC	protein_coding	OTTHUMT00000471930.1	-	0.00	14	0	C	XM_938882		2736210	+1	tier1	-	no_errors	ENST00000477287	ensembl	human	known	74_37	rna	62.16	14	23	SNP	1.000	T
EFCAB11	90141	genome.wustl.edu	37	14	90420307	90420307	+	Silent	SNP	G	G	T			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr14:90420307G>T	ENST00000316738.7	-	2	142	c.114C>A	c.(112-114)ctC>ctA	p.L38L	EFCAB11_ENST00000555872.1_Silent_p.L14L|EFCAB11_ENST00000538485.2_Silent_p.L38L|EFCAB11_ENST00000267544.9_5'UTR|RP11-33N16.3_ENST00000555070.1_RNA|EFCAB11_ENST00000556005.1_Silent_p.L14L|TDP1_ENST00000335725.4_5'Flank|EFCAB11_ENST00000556609.1_5'UTR|TDP1_ENST00000357382.3_5'Flank|TDP1_ENST00000393454.2_5'Flank|TDP1_ENST00000393452.3_5'Flank	NM_001284267.1|NM_145231.3	NP_001271196.1|NP_660274.1	Q9BUY7	EFC11_HUMAN	EF-hand calcium binding domain 11	38	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)			large_intestine(1)|lung(1)	2						CCTCTCTGCTGAGATATCCTT	0.353																																																	0													112.0	109.0	110.0					14																	90420307		2203	4300	6503	SO:0001819	synonymous_variant	0			AK094740	CCDS9887.1, CCDS61522.1, CCDS61523.1, CCDS61524.1, CCDS61525.1	14q32.11	2013-01-10	2011-01-31	2011-01-31	ENSG00000140025	ENSG00000140025		"""EF-hand domain containing"""	20357	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 143"""	C14orf143			Standard	NM_145231		Approved		uc001xxt.3	Q9BUY7	OTTHUMG00000148671	ENST00000316738.7:c.114C>A	14.37:g.90420307G>T			B3KT10|B7Z5G9|G3V5G1|Q86T09|Q86TV7|Q8NDQ1	Silent	SNP	smart_EF_hand_dom,pfscan_EF_hand_dom	p.L38	ENST00000316738.7	37	c.114	CCDS9887.1	14																																																																																			EFCAB11	-	smart_EF_hand_dom,pfscan_EF_hand_dom	ENSG00000140025		0.353	EFCAB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFCAB11	HGNC	protein_coding	OTTHUMT00000309022.2	-	0.00	51	0	G	NM_145231		90420307	-1	tier1	-	no_errors	ENST00000316738	ensembl	human	known	74_37	silent	7.27	51	4	SNP	1.000	T
EIF4G3	8672	genome.wustl.edu	37	1	21299503	21299504	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	TC	TC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr1:21299503_21299504delTC	ENST00000264211.8	-	5	608_609	c.414_415delGA	c.(412-417)gagaaafs	p.K140fs	EIF4G3_ENST00000374935.3_Frame_Shift_Del_p.K140fs|EIF4G3_ENST00000536266.1_5'UTR|EIF4G3_ENST00000374927.4_Frame_Shift_Del_p.K140fs|EIF4G3_ENST00000356916.3_Frame_Shift_Del_p.K151fs|EIF4G3_ENST00000602326.1_Frame_Shift_Del_p.K147fs|EIF4G3_ENST00000400422.1_Frame_Shift_Del_p.K140fs|EIF4G3_ENST00000374937.3_Frame_Shift_Del_p.K147fs	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	140	PABPC1-binding.				cytokine-mediated signaling pathway (GO:0019221)|positive regulation of meiosis I (GO:0060903)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|regulation of translational initiation (GO:0006446)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		ACAGTTTTTTTCTCTCTCTTGG	0.371																																																	0																																										SO:0001589	frameshift_variant	0			AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.414_415delGA	1.37:g.21299509_21299510delTC	ENSP00000264211:p.Lys140fs		B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Frame_Shift_Del	DEL	pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,pfam_W2_domain,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain	p.K147fs	ENST00000264211.8	37	c.436_435	CCDS214.1	1																																																																																			EIF4G3	-	NULL	ENSG00000075151		0.371	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	EIF4G3	HGNC	protein_coding	OTTHUMT00000007467.3		0.00	108	0	TC	NM_003760		21299504	-1	tier1		no_errors	ENST00000374937	ensembl	human	known	74_37	frame_shift_del	34.44	59	31	DEL	1.000:1.000	-
EIF4G3	8672	genome.wustl.edu	37	1	21299504	21299504	+	Silent	SNP	C	C	T			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr1:21299504C>T	ENST00000264211.8	-	5	608	c.414G>A	c.(412-414)gaG>gaA	p.E138E	EIF4G3_ENST00000374935.3_Silent_p.E138E|EIF4G3_ENST00000536266.1_5'UTR|EIF4G3_ENST00000374927.4_Silent_p.E138E|EIF4G3_ENST00000356916.3_Silent_p.E149E|EIF4G3_ENST00000602326.1_Silent_p.E145E|EIF4G3_ENST00000400422.1_Silent_p.E138E|EIF4G3_ENST00000374937.3_Silent_p.E145E	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	138	PABPC1-binding.				cytokine-mediated signaling pathway (GO:0019221)|positive regulation of meiosis I (GO:0060903)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|regulation of translational initiation (GO:0006446)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		CAGTTTTTTTCTCTCTCTTGG	0.368																																																	0													35.0	38.0	37.0					1																	21299504		2199	4300	6499	SO:0001819	synonymous_variant	0			AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.414G>A	1.37:g.21299504C>T			B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Silent	SNP	pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,pfam_W2_domain,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain	p.E145	ENST00000264211.8	37	c.435	CCDS214.1	1																																																																																			EIF4G3	-	NULL	ENSG00000075151		0.368	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	EIF4G3	HGNC	protein_coding	OTTHUMT00000007467.3		0.00	107	0	C	NM_003760		21299504	-1			no_errors	ENST00000374937	ensembl	human	known	74_37	silent	8.20	56	5	SNP	1.000	T
EIF5B	9669	genome.wustl.edu	37	2	99977778	99977778	+	Silent	SNP	T	T	C	rs559211004		TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr2:99977778T>C	ENST00000289371.6	+	4	616	c.414T>C	c.(412-414)gaT>gaC	p.D138D		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	138	Poly-Asp.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of translational initiation (GO:0006446)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CTGGGAGTGATGATGATGATG	0.348																																					Colon(162;2388 2567 2705 3444)												0													78.0	80.0	79.0					2																	99977778		1826	4080	5906	SO:0001819	synonymous_variant	0			AF078035	CCDS42721.1	2q11.2	2012-09-20			ENSG00000158417	ENSG00000158417			30793	protein-coding gene	gene with protein product	"""translation initiation factor IF2"""	606086				10200264, 10432305	Standard	XM_005264075		Approved	IF2, KIAA0741, DKFZp434I036, FLJ10524	uc002tab.3	O60841	OTTHUMG00000153242	ENST00000289371.6:c.414T>C	2.37:g.99977778T>C			O95805|Q53RV7|Q53SI8|Q9UF81|Q9UMN7	Silent	SNP	pfam_EF_GTP-bd_dom,pfam_TIF_IF2_dom3,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_B-barrel,superfamily_TIF_IF2_dom3,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom	p.D138	ENST00000289371.6	37	c.414	CCDS42721.1	2																																																																																			EIF5B	-	NULL	ENSG00000158417		0.348	EIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF5B	HGNC	protein_coding	OTTHUMT00000330364.2	-	0.00	14	0	T	NM_015904		99977778	+1	tier1	-	no_errors	ENST00000289371	ensembl	human	known	74_37	silent	30.00	21	9	SNP	1.000	C
CTD-2144E22.5	0	genome.wustl.edu	37	16	34257063	34257063	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr16:34257063G>A	ENST00000319817.2	+	1	557	c.307G>A	c.(307-309)Gct>Act	p.A103T	CTD-2144E22.6_ENST00000567803.1_RNA																							TGCGCCGGGCGCTCCGGCTCT	0.786																																																	0																																										SO:0001583	missense	0																														ENST00000319817.2:c.307G>A	16.37:g.34257063G>A	ENSP00000318279:p.Ala103Thr			Missense_Mutation	SNP	NULL	p.A103T	ENST00000319817.2	37	c.307		16	.	.	.	.	.	.	.	.	.	.	G	1.551	-0.539275	0.04053	.	.	ENSG00000179755	ENST00000319817	.	.	.	0.158	-0.317	0.12736	.	.	.	.	.	T	0.36110	0.0955	.	.	.	.	.	.	.	.	.	.	.	.	T	0.39143	-0.9628	3	.	.	.	.	5.6983	0.17867	0.0:0.649:0.3509:0.0	.	.	.	.	T	103	.	.	A	+	1	0	AC135776.1	34114564	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.751000	0.04803	-1.039000	0.03275	-1.027000	0.02421	GCT	CTD-2144E22.5	-	NULL	ENSG00000179755		0.786	CTD-2144E22.5-001	KNOWN	basic|appris_principal	protein_coding	ENSG00000179755	Clone_based_vega_gene	protein_coding	OTTHUMT00000431648.2	-	0.00	11	0	G			34257063	+1	tier1	-	no_errors	ENST00000319817	ensembl	human	known	74_37	missense	54.55	5	6	SNP	0.066	A
CDC123	8872	genome.wustl.edu	37	10	12288997	12288997	+	Intron	SNP	C	C	T	rs111957661		TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr10:12288997C>T	ENST00000281141.4	+	11	1126				RP11-186N15.3_ENST00000421657.1_RNA|CDC123_ENST00000455773.3_Intron|CDC123_ENST00000378900.2_Intron|RP11-186N15.3_ENST00000598961.1_RNA	NM_006023.2	NP_006014.2	O75794	CD123_HUMAN	cell division cycle 123						cell cycle arrest (GO:0007050)|cell division (GO:0051301)|positive regulation of cell proliferation (GO:0008284)|regulation of mitotic cell cycle (GO:0007346)	cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12						CACTGTCCTCCTCTCTCACCT	0.607																																																	0																																										SO:0001627	intron_variant	0			BC001600	CCDS7090.1	10p13	2013-01-17	2013-01-17	2006-11-06	ENSG00000151465	ENSG00000151465			16827	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 7"", ""cell division cycle 123 homolog (S. cerevisiae)"""	C10orf7		15319434	Standard	NM_006023		Approved	D123	uc001ill.3	O75794	OTTHUMG00000017680	ENST00000281141.4:c.846+721C>T	10.37:g.12288997C>T			A8JZZ7|Q14107|Q5T0L4|Q5T0L5|Q5T0L7|Q5T0L8|Q5T0L9	RNA	SNP	-	NULL	ENST00000281141.4	37	NULL	CCDS7090.1	10																																																																																			RP11-186N15.3	-	-	ENSG00000228302		0.607	CDC123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000228302	Clone_based_vega_gene	protein_coding	OTTHUMT00000046801.1	-	0.00	22	0	C	NM_006023		12288997	-1	tier1	rs111957661	no_errors	ENST00000421657	ensembl	human	known	74_37	rna	14.29	18	3	SNP	0.001	T
CDC123	8872	genome.wustl.edu	37	10	12289002	12289002	+	Intron	SNP	T	T	G	rs113024795		TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr10:12289002T>G	ENST00000281141.4	+	11	1126				RP11-186N15.3_ENST00000421657.1_RNA|CDC123_ENST00000455773.3_Intron|CDC123_ENST00000378900.2_Intron|RP11-186N15.3_ENST00000598961.1_RNA	NM_006023.2	NP_006014.2	O75794	CD123_HUMAN	cell division cycle 123						cell cycle arrest (GO:0007050)|cell division (GO:0051301)|positive regulation of cell proliferation (GO:0008284)|regulation of mitotic cell cycle (GO:0007346)	cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12						TCCTCCTCTCTCACCTCCCAC	0.612																																																	0																																										SO:0001627	intron_variant	0			BC001600	CCDS7090.1	10p13	2013-01-17	2013-01-17	2006-11-06	ENSG00000151465	ENSG00000151465			16827	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 7"", ""cell division cycle 123 homolog (S. cerevisiae)"""	C10orf7		15319434	Standard	NM_006023		Approved	D123	uc001ill.3	O75794	OTTHUMG00000017680	ENST00000281141.4:c.846+726T>G	10.37:g.12289002T>G			A8JZZ7|Q14107|Q5T0L4|Q5T0L5|Q5T0L7|Q5T0L8|Q5T0L9	RNA	SNP	-	NULL	ENST00000281141.4	37	NULL	CCDS7090.1	10																																																																																			RP11-186N15.3	-	-	ENSG00000228302		0.612	CDC123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000228302	Clone_based_vega_gene	protein_coding	OTTHUMT00000046801.1	-	0.00	23	0	T	NM_006023		12289002	-1	tier1	rs113024795	no_errors	ENST00000421657	ensembl	human	known	74_37	rna	14.29	18	3	SNP	0.004	G
RP11-423O2.5	0	genome.wustl.edu	37	1	142803274	142803274	+	lincRNA	DEL	A	A	-			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr1:142803274delA	ENST00000423385.1	-	0	1691																											AAACCAAACCAAaacaacaac	0.343																																																	0																																												0																															1.37:g.142803274delA				RNA	DEL	-	NULL	ENST00000423385.1	37	NULL		1																																																																																			RP11-423O2.5	-	-	ENSG00000234978		0.343	RP11-423O2.5-001	KNOWN	basic	lincRNA	ENSG00000234978	Clone_based_vega_gene	lincRNA	OTTHUMT00000193203.1		0.00	109	0	A			142803274	-1			no_errors	ENST00000423385	ensembl	human	known	74_37	rna	9.33	68	7	DEL	0.004	0
RP11-423O2.5	0	genome.wustl.edu	37	1	142803279	142803280	+	lincRNA	DEL	AA	AA	-			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	AA	AA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr1:142803279_142803280delAA	ENST00000423385.1	-	0	1685_1686																											AAACCAAaacaacaacaacaac	0.356																																																	0																																												0																															1.37:g.142803279_142803280delAA				RNA	DEL	-	NULL	ENST00000423385.1	37	NULL		1																																																																																			RP11-423O2.5	-	-	ENSG00000234978		0.356	RP11-423O2.5-001	KNOWN	basic	lincRNA	ENSG00000234978	Clone_based_vega_gene	lincRNA	OTTHUMT00000193203.1		0.00	114	0	AA			142803280	-1			no_errors	ENST00000423385	ensembl	human	known	74_37	rna	8.97	71	7	DEL	0.006:0.005	0
SCARNA6	677772	genome.wustl.edu	37	16	21598984	21598985	+	RNA	INS	-	-	T			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr16:21598984_21598985insT	ENST00000516989.1	+	0	37_38									small Cajal body-specific RNA 6																		ccagcagcCCATTTTTTTTTTC	0.366																																																	0																																												0			AY077738		2q37.1	2013-09-05			ENSG00000251791	ENSG00000251791		"""ncRNAs / Small nucleolar RNAs : Small cajal body-specific"""	32562	non-coding RNA	RNA, small nucleolar		615641				12032087	Standard	NR_003006		Approved	U88	uc002vuf.1				16.37:g.21598994_21598994dupT				RNA	INS	-	NULL	ENST00000516989.1	37	NULL		16																																																																																			SCARNA6	-	-	ENSG00000252798		0.366	SCARNA6.1-201	NOVEL	basic	snoRNA	ENSG00000252798	RFAM	snoRNA			0.00	10	0	-	NR_003006		21598985	+1	tier1		no_errors	ENST00000516989	ensembl	human	novel	74_37	rna	21.43	11	3	INS	0.242:0.246	T
SLC46A1	113235	genome.wustl.edu	37	17	26729384	26729384	+	Intron	DEL	G	G	-			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr17:26729384delG	ENST00000440501.1	-	3	1177				SLC46A1_ENST00000584729.1_Intron|CTD-2350C19.1_ENST00000583956.1_RNA|SLC46A1_ENST00000321666.5_Intron|CTD-2350C19.2_ENST00000580714.1_RNA	NM_080669.4	NP_542400.2	Q96NT5	PCFT_HUMAN	solute carrier family 46 (folate transporter), member 1						cellular iron ion homeostasis (GO:0006879)|folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|heme transporter activity (GO:0015232)|methotrexate transporter activity (GO:0015350)			lung(5)	5	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Folic Acid(DB00158)|Methotrexate(DB00563)|Sulfasalazine(DB00795)	GCTGGGGAGAGGGGCGTCCAA	0.527																																																	0													28.0	27.0	27.0					17																	26729384		1892	4122	6014	SO:0001627	intron_variant	0			AK054669	CCDS74019.1, CCDS74020.1	17q11.2	2014-09-17	2007-09-24			ENSG00000076351		"""Solute carriers"""	30521	protein-coding gene	gene with protein product	"""heme carrier protein 1"", ""proton-coupled folate transporter"""	611672	"""solute carrier family 46, member 1"""			16143108, 17129779	Standard	XM_005277786		Approved	HCP1, MGC9564, PCFT	uc002hbf.2	Q96NT5		ENST00000440501.1:c.1082-45C>-	17.37:g.26729384delG			Q1HE20|Q86T92|Q8TEG3|Q96FL0	RNA	DEL	-	NULL	ENST00000440501.1	37	NULL		17																																																																																			CTD-2350C19.1	-	-	ENSG00000264098		0.527	SLC46A1-202	KNOWN	basic|appris_principal	protein_coding	ENSG00000264098	Clone_based_vega_gene	protein_coding			0.00	32	0	G	NM_080669		26729384	+1	tier1		no_errors	ENST00000583956	ensembl	human	known	74_37	rna	8.00	23	2	DEL	0.000	-
UCKL1	54963	genome.wustl.edu	37	20	62585044	62585044	+	Intron	DEL	A	A	-			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr20:62585044delA	ENST00000354216.6	-	1	156				UCKL1_ENST00000358711.3_Intron|UCKL1_ENST00000369892.3_Intron|AL118506.1_ENST00000595604.1_Frame_Shift_Del_p.Q13fs|UCKL1_ENST00000369908.5_5'Flank	NM_017859.3	NP_060329.2	Q9NWZ5	UCKL1_HUMAN	uridine-cytidine kinase 1-like 1						CTP salvage (GO:0044211)|UMP salvage (GO:0044206)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|uridine kinase activity (GO:0004849)			endometrium(3)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					ctctatctccaaaaaaaaaag	0.547																																																	0																																										SO:0001627	intron_variant	0			AK000524	CCDS13547.1, CCDS54479.1	20q13.33	2012-09-20	2004-07-13	2004-07-13	ENSG00000198276	ENSG00000198276			15938	protein-coding gene	gene with protein product		610866	"""uridine kinase-like 1"""	URKL1			Standard	NM_017859		Approved	FLJ20517	uc010gkn.3	Q9NWZ5	OTTHUMG00000033003	ENST00000354216.6:c.113+2568T>-	20.37:g.62585044delA			B7Z8N2|Q5JWV0|Q70AQ5|Q8N524|Q9H3Z2	Frame_Shift_Del	DEL	NULL	p.K16fs	ENST00000354216.6	37	c.38	CCDS13547.1	20																																																																																			AL118506.1	-	NULL	ENSG00000267848		0.547	UCKL1-001	KNOWN	basic|CCDS	protein_coding	ENSG00000267848	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000080236.1		0.00	20	0	A	NM_017859		62585044	+1	tier1		no_errors	ENST00000595604	ensembl	human	known	74_37	frame_shift_del	9.09	30	3	DEL	0.024	-
AC136188.1	0	genome.wustl.edu	37	12	74293679	74293680	+	RNA	DEL	TA	TA	-	rs72431192		TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	TA	TA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr12:74293679_74293680delTA	ENST00000606199.1	+	0	30_31																											tgtatatgtgtatatatatata	0.302																																																	0																																												0																															12.37:g.74293689_74293690delTA				RNA	DEL	-	NULL	ENST00000606199.1	37	NULL		12																																																																																			AC136188.1	-	-	ENSG00000272231		0.302	AC136188.1-201	NOVEL	basic	miRNA	ENSG00000272231	Clone_based_ensembl_gene	miRNA			0.00	11	0	TA			74293680	+1			no_errors	ENST00000606199	ensembl	human	novel	74_37	rna	31.58	13	6	DEL	0.003:0.000	0
ENTHD2	146705	genome.wustl.edu	37	17	79205688	79205688	+	Silent	SNP	G	G	A			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr17:79205688G>A	ENST00000300714.3	-	8	717	c.660C>T	c.(658-660)agC>agT	p.S220S	ENTHD2_ENST00000374769.2_Silent_p.S136S|AC027601.1_ENST00000575922.1_RNA|AC027601.1_ENST00000569559.1_RNA	NM_144679.2	NP_653280.1	Q96N21	AP4AT_HUMAN	ENTH domain containing 2	220	Ser-rich.					cytoplasmic vesicle (GO:0031410)											CCCCTGAATGGCTGTCGCTGC	0.652																																																	0													51.0	57.0	55.0					17																	79205688		2203	4300	6503	SO:0001819	synonymous_variant	0			AK056090	CCDS11779.1	17q25.3	2012-07-18	2012-07-18	2012-07-18	ENSG00000167302	ENSG00000167302			26458	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 56"""	C17orf56			Standard	NM_144679		Approved	FLJ31528	uc002jzu.2	Q96N21	OTTHUMG00000177866	ENST00000300714.3:c.660C>T	17.37:g.79205688G>A			Q6ZQU0|Q6ZSQ9	Silent	SNP	pfam_Epsin_dom_N,superfamily_ENTH_VHS	p.S220	ENST00000300714.3	37	c.660	CCDS11779.1	17																																																																																			ENTHD2	-	NULL	ENSG00000167302		0.652	ENTHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENTHD2	HGNC	protein_coding	OTTHUMT00000439315.1	-	0.00	67	0	G	NM_144679		79205688	-1	tier1	-	no_errors	ENST00000300714	ensembl	human	known	74_37	silent	6.25	60	4	SNP	1.000	A
ERVFRD-1	405754	genome.wustl.edu	37	6	11104020	11104020	+	Silent	SNP	G	G	C			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr6:11104020G>C	ENST00000472091.1	-	2	1899	c.1524C>G	c.(1522-1524)acC>acG	p.T508T	SMIM13_ENST00000416247.2_Intron|ERVFRD-1_ENST00000542862.1_Silent_p.T508T	NM_207582.2	NP_997465.1	P60508	SYCY2_HUMAN	endogenous retrovirus group FRD, member 1	508					syncytium formation (GO:0006949)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|viral envelope (GO:0019031)				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(4)|stomach(1)	15						agacaaattgggttattagat	0.473																																																	0													38.0	36.0	36.0					6																	11104020		1758	3202	4960	SO:0001819	synonymous_variant	0			AK075092, AK123938, AY358244	CCDS4519.1	6p24.2	2014-05-02			ENSG00000244476	ENSG00000244476			33823	other	endogenous retrovirus		610524				12970426, 14557543, 15476554, 21542922	Standard	NM_207582		Approved	HERV-W/FRD, HERV-FRD, envFRD, ERVFRDE1, syncytin-2	uc003mzt.3	P60508	OTTHUMG00000159193	ENST00000472091.1:c.1524C>G	6.37:g.11104020G>C				Silent	SNP	pfam_TLV/ENV_coat_polyprotein	p.T508	ENST00000472091.1	37	c.1524	CCDS4519.1	6																																																																																			ERVFRD-1	-	pfam_TLV/ENV_coat_polyprotein	ENSG00000244476		0.473	ERVFRD-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERVFRD-1	HGNC	protein_coding	OTTHUMT00000353776.1	-	0.00	49	0	G	NM_207582		11104020	-1	tier1	-	no_errors	ENST00000472091	ensembl	human	known	74_37	silent	19.44	86	21	SNP	0.344	C
ESPL1	9700	genome.wustl.edu	37	12	53666581	53666581	+	Silent	SNP	G	G	A			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr12:53666581G>A	ENST00000257934.4	+	6	1537	c.1446G>A	c.(1444-1446)ccG>ccA	p.P482P	ESPL1_ENST00000552462.1_Silent_p.P482P	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	482					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						TCTCTGAGCCGCTCTGTCAGC	0.522																																					Colon(53;1069 1201 2587 5382)												0													150.0	143.0	146.0					12																	53666581		2203	4300	6503	SO:0001819	synonymous_variant	0			D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"""separin"", ""separase"", ""separin, cysteine protease"""	604143	"""extra spindle poles like 1 (S. cerevisiae)"""			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.1446G>A	12.37:g.53666581G>A				Silent	SNP	pfam_Peptidase_C50,superfamily_DsrEFH-like	p.P482	ENST00000257934.4	37	c.1446	CCDS8852.1	12																																																																																			ESPL1	-	NULL	ENSG00000135476		0.522	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ESPL1	HGNC	protein_coding	OTTHUMT00000406899.2		0.00	51	0	G	NM_012291		53666581	+1			no_errors	ENST00000257934	ensembl	human	known	74_37	silent	6.15	61	4	SNP	0.902	A
ESYT1	23344	genome.wustl.edu	37	12	56524830	56524830	+	Missense_Mutation	SNP	C	C	A			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr12:56524830C>A	ENST00000394048.5	+	4	838	c.574C>A	c.(574-576)Cgc>Agc	p.R192S	ESYT1_ENST00000267113.4_Missense_Mutation_p.R192S|ESYT1_ENST00000541590.1_Missense_Mutation_p.R192S|RP11-603J24.5_ENST00000549438.1_RNA|RP11-603J24.5_ENST00000550947.1_RNA	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	192	Glycerophospholipid-binding barrel-like domain. {ECO:0000250}.				lipid transport (GO:0006869)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						CTAGCCATTGCGCATCATTGG	0.532																																																	0													139.0	127.0	131.0					12																	56524830		2203	4300	6503	SO:0001583	missense	0			AK074368	CCDS8904.1, CCDS53801.1	12q13.2	2014-07-02	2009-06-23	2009-06-23		ENSG00000139641		"""Synaptotagmins"""	29534	protein-coding gene	gene with protein product			"""family with sequence similarity 62 (C2 domain containing), member A"""	FAM62A		9872452, 10350628, 17672888	Standard	NM_015292		Approved	MBC2, KIAA0747	uc001sjr.3	Q9BSJ8		ENST00000394048.5:c.574C>A	12.37:g.56524830C>A	ENSP00000377612:p.Arg192Ser		A0FGR7|A8K2S2|O94848|Q6PJN4|Q9H6J1|Q9H6W2|Q9Y416	Missense_Mutation	SNP	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,prints_C2_dom,pfscan_C2_dom	p.R192S	ENST00000394048.5	37	c.574	CCDS8904.1	12	.	.	.	.	.	.	.	.	.	.	C	19.51	3.842101	0.71488	.	.	ENSG00000139641	ENST00000551790;ENST00000394048;ENST00000402331;ENST00000267113;ENST00000541590	T;T;T;T	0.21361	2.01;2.01;2.01;2.01	5.72	3.85	0.44370	.	0.054279	0.64402	D	0.000001	T	0.40570	0.1122	M	0.66506	2.035	0.38445	D	0.946801	D;D	0.63046	0.992;0.983	P;P	0.61533	0.89;0.694	T	0.44221	-0.9342	10	0.72032	D	0.01	-14.8167	13.3623	0.60663	0.5103:0.4897:0.0:0.0	.	192;192	Q9BSJ8-2;Q9BSJ8	.;ESYT1_HUMAN	S	71;192;146;192;192	ENSP00000447756:R71S;ENSP00000377612:R192S;ENSP00000267113:R192S;ENSP00000445952:R192S	ENSP00000267113:R192S	R	+	1	0	ESYT1	54811097	1.000000	0.71417	0.928000	0.36995	0.555000	0.35460	1.947000	0.40293	0.836000	0.34901	0.563000	0.77884	CGC	ESYT1	-	NULL	ENSG00000139641		0.532	ESYT1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ESYT1	HGNC	protein_coding	OTTHUMT00000407906.1	-	0.00	57	0	C	NM_015292		56524830	+1	tier1	-	no_errors	ENST00000267113	ensembl	human	known	74_37	missense	55.06	38	49	SNP	1.000	A
ESYT3	83850	genome.wustl.edu	37	3	138191618	138191618	+	Silent	SNP	C	C	A			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr3:138191618C>A	ENST00000389567.4	+	18	2340	c.2154C>A	c.(2152-2154)ccC>ccA	p.P718P		NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	718					lipid transport (GO:0006869)	extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|organelle membrane contact site (GO:0044232)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						CATGGCCGCCCAAGAGGCTGG	0.582																																																	0													87.0	96.0	93.0					3																	138191618		2073	4209	6282	SO:0001819	synonymous_variant	0			AJ303366	CCDS3101.2	3q22.3	2014-07-02	2009-06-23	2009-06-23	ENSG00000158220	ENSG00000158220		"""Synaptotagmins"""	24295	protein-coding gene	gene with protein product			"""family with sequence similarity 62 (C2 domain containing), member C"""	FAM62C		11543631, 17672888	Standard	NM_031913		Approved	CHR3SYT	uc003esk.3	A0FGR9	OTTHUMG00000147354	ENST00000389567.4:c.2154C>A	3.37:g.138191618C>A			A8K0G5|Q6ZV21|Q8NDZ5|Q9BQR9	Silent	SNP	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,prints_C2_dom,pfscan_C2_dom	p.P718	ENST00000389567.4	37	c.2154	CCDS3101.2	3																																																																																			ESYT3	-	NULL	ENSG00000158220		0.582	ESYT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ESYT3	HGNC	protein_coding	OTTHUMT00000303993.1	-	0.00	60	0	C	NM_031913		138191618	+1	tier1	-	no_errors	ENST00000389567	ensembl	human	known	74_37	silent	41.67	28	20	SNP	0.003	A
ETAA1	54465	genome.wustl.edu	37	2	67631408	67631408	+	Missense_Mutation	SNP	C	C	G			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr2:67631408C>G	ENST00000272342.5	+	5	1724	c.1594C>G	c.(1594-1596)Cag>Gag	p.Q532E	ETAA1_ENST00000462772.1_Intron	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	532						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						TTCTAATGAACAGAAAAATAA	0.338																																																	0													38.0	40.0	39.0					2																	67631408		2202	4296	6498	SO:0001583	missense	0			AJ242682	CCDS1882.1	2p14	2014-02-12	2007-10-04		ENSG00000143971	ENSG00000143971			24648	protein-coding gene	gene with protein product		613196	"""Ewing's tumor-associated antigen 1"""			16003559	Standard	XM_005264374		Approved	ETAA16	uc002sdz.1	Q9NY74	OTTHUMG00000129545	ENST00000272342.5:c.1594C>G	2.37:g.67631408C>G	ENSP00000272342:p.Gln532Glu		Q05BT7|Q53SC4	Missense_Mutation	SNP	NULL	p.Q532E	ENST00000272342.5	37	c.1594	CCDS1882.1	2	.	.	.	.	.	.	.	.	.	.	C	4.121	0.020740	0.08006	.	.	ENSG00000143971	ENST00000272342	T	0.21031	2.03	5.85	4.98	0.66077	.	0.511047	0.20560	N	0.089937	T	0.23886	0.0578	L	0.50333	1.59	0.09310	N	1	P	0.46142	0.873	B	0.42361	0.385	T	0.07654	-1.0761	10	0.35671	T	0.21	-27.2549	14.9288	0.70900	0.0:0.9317:0.0:0.0683	.	532	Q9NY74	ETAA1_HUMAN	E	532	ENSP00000272342:Q532E	ENSP00000272342:Q532E	Q	+	1	0	ETAA1	67484912	0.438000	0.25602	0.696000	0.30242	0.021000	0.10359	1.006000	0.29847	1.492000	0.48499	0.655000	0.94253	CAG	ETAA1	-	NULL	ENSG00000143971		0.338	ETAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ETAA1	HGNC	protein_coding	OTTHUMT00000251735.1	-	0.00	27	0	C	NM_019002		67631408	+1	tier1	-	no_errors	ENST00000272342	ensembl	human	known	74_37	missense	44.74	21	17	SNP	0.026	G
EYS	346007	genome.wustl.edu	37	6	66005740	66005741	+	Intron	INS	-	-	AA	rs374955689|rs567365942|rs35045551|rs397797960|rs74667330|rs398110200	byFrequency	TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr6:66005740_66005741insAA	ENST00000370621.3	-	12	2550				EYS_ENST00000503581.1_Intron|EYS_ENST00000370616.2_Intron			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)						detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						AATTTATCAGGAAAAAAAAAAC	0.302																																																	0																																										SO:0001627	intron_variant	0				CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.2023+14->TT	6.37:g.66005749_66005750dupAA			A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	RNA	INS	-	NULL	ENST00000370621.3	37	NULL		6																																																																																			EYS	-	-	ENSG00000188107		0.302	EYS-001	KNOWN	basic	protein_coding	EYS	HGNC	protein_coding	OTTHUMT00000351351.3		0.00	31	0	-	XM_294050		66005741	-1	tier1		no_errors	ENST00000370615	ensembl	human	putative	74_37	rna	5.88	32	2	INS	0.032:0.122	AA
F2	2147	genome.wustl.edu	37	11	46760903	46760904	+	Frame_Shift_Del	DEL	AT	AT	-	rs368442575		TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	AT	AT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr11:46760903_46760904delAT	ENST00000311907.5	+	14	1870_1871	c.1814_1815delAT	c.(1813-1815)catfs	p.H605fs	F2_ENST00000530231.1_Frame_Shift_Del_p.H566fs	NM_000506.3	NP_000497.1	P00734	THRB_HUMAN	coagulation factor II (thrombin)	605	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell surface receptor signaling pathway (GO:0007166)|cellular protein metabolic process (GO:0044267)|cytosolic calcium ion homeostasis (GO:0051480)|fibrinolysis (GO:0042730)|leukocyte migration (GO:0050900)|multicellular organismal development (GO:0007275)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of platelet activation (GO:0010544)|negative regulation of proteolysis (GO:0045861)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|positive regulation of blood coagulation (GO:0030194)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C-activating G-protein coupled receptor signaling pathway (GO:1900738)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of blood coagulation (GO:0030193)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|receptor binding (GO:0005102)|serine-type endopeptidase activity (GO:0004252)|thrombospondin receptor activity (GO:0070053)			endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|ART-123(DB05777)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Dabigatran etexilate(DB06695)|Drotrecogin alfa(DB00055)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Suramin(DB04786)|Ximelagatran(DB04898)	TTCTACACACATGTGTTCCGCC	0.495																																					Esophageal Squamous(147;1147 1808 2148 38609 51144)												0			GRCh37	CM030036	F2	M																																				SO:0001589	frameshift_variant	0			M33031	CCDS31476.1	11p11.2	2013-02-28			ENSG00000180210	ENSG00000180210	3.4.21.5	"""Endogenous ligands"""	3535	protein-coding gene	gene with protein product	"""prepro-coagulation factor II"""	176930					Standard	NM_000506		Approved		uc001ndf.4	P00734	OTTHUMG00000150344	ENST00000311907.5:c.1814_1815delAT	11.37:g.46760903_46760904delAT	ENSP00000308541:p.His605fs		B2R7F7|B4E1A7|Q4QZ40|Q53H04|Q53H06|Q69EZ7|Q7Z7P3|Q9UCA1	Frame_Shift_Del	DEL	pfam_Peptidase_S1,pfam_Kringle,pfam_Thrombin_light_chain,pfam_GLA_domain,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,superfamily_GLA_domain,smart_GLA_domain,smart_Kringle,smart_Peptidase_S1,pirsf_Prothrombin/thrombin,pfscan_GLA_domain,pfscan_Kringle,pfscan_Peptidase_S1,prints_Prothrombin/thrombin,prints_Peptidase_S1A,prints_GLA_domain	p.H605fs	ENST00000311907.5	37	c.1814_1815	CCDS31476.1	11																																																																																			F2	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pirsf_Prothrombin/thrombin,pfscan_Peptidase_S1,prints_Prothrombin/thrombin	ENSG00000180210		0.495	F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F2	HGNC	protein_coding	OTTHUMT00000317706.1		0.00	42	0	AT			46760904	+1	tier1		no_errors	ENST00000311907	ensembl	human	known	74_37	frame_shift_del	41.67	14	10	DEL	1.000:0.856	-
RP1-274L7.1	0	genome.wustl.edu	37	X	129629016	129629016	+	lincRNA	SNP	A	A	G			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chrX:129629016A>G	ENST00000458525.1	-	0	1093				FAM45B_ENST00000592932.1_RNA																							ggccctccacaatggattctg	0.473																																																	0																																												0																															X.37:g.129629016A>G				RNA	SNP	-	NULL	ENST00000458525.1	37	NULL		X																																																																																			FAM45B	-	-	ENSG00000221930		0.473	RP1-274L7.1-001	KNOWN	basic	lincRNA	FAM45B	HGNC	lincRNA	OTTHUMT00000058271.1	-	0.00	10	0	A			129629016	+1	tier1	-	no_errors	ENST00000592932	ensembl	human	known	74_37	rna	81.82	2	9	SNP	0.003	G
FAM73B	84895	genome.wustl.edu	37	9	131825458	131825458	+	Intron	SNP	C	C	T			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr9:131825458C>T	ENST00000358369.4	+	10	1236				FAM73B_ENST00000406926.2_Intron|FAM73B_ENST00000277475.5_Intron	NM_032809.2	NP_116198.2	Q7L4E1	FA73B_HUMAN	family with sequence similarity 73, member B						bone development (GO:0060348)	integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)	13						CCAGGTGCCACCTGACCCCCC	0.697																																																	0																																										SO:0001627	intron_variant	0			AK074127	CCDS6917.1	9q34.13	2008-02-05	2005-08-11	2005-08-11	ENSG00000148343	ENSG00000148343			23621	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 54"""	C9orf54			Standard	NM_032809		Approved	FLJ14596, FLJ00199	uc004bxa.3	Q7L4E1	OTTHUMG00000020770	ENST00000358369.4:c.1011-65C>T	9.37:g.131825458C>T			Q8NBM3|Q8TEJ6|Q969E6	RNA	SNP	-	NULL	ENST00000358369.4	37	NULL	CCDS6917.1	9																																																																																			FAM73B	-	-	ENSG00000148343		0.697	FAM73B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM73B	HGNC	protein_coding	OTTHUMT00000054542.7	-	0.00	48	0	C	NM_032809		131825458	+1	tier1	-	no_errors	ENST00000494608	ensembl	human	known	74_37	rna	33.93	37	19	SNP	0.007	T
FANCD2	2177	genome.wustl.edu	37	3	10114581	10114581	+	Frame_Shift_Del	DEL	G	G	-			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr3:10114581delG	ENST00000419585.1	+	27	2682	c.2521delG	c.(2521-2523)ggafs	p.G841fs	FANCD2_ENST00000383807.1_Frame_Shift_Del_p.G841fs|FANCD2_ENST00000383806.1_Frame_Shift_Del_p.G841fs|FANCD2_ENST00000287647.3_Frame_Shift_Del_p.G841fs			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	841					DNA repair (GO:0006281)|gamete generation (GO:0007276)|response to gamma radiation (GO:0010332)|synapsis (GO:0007129)	condensed chromosome (GO:0000793)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA polymerase binding (GO:0070182)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		CCCTCCTCTTGGAAACTTTGA	0.378			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																														yes	Rec		Fanconi anaemia D2	3	3p26	2177	"""Fanconi anemia, complementation group D2"""		L	0													115.0	105.0	109.0					3																	10114581		2203	4300	6503	SO:0001589	frameshift_variant	0	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554		"""Fanconi anemia, complementation groups"""	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD		7581463, 11239453, 18475298	Standard	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000419585.1:c.2521delG	3.37:g.10114581delG	ENSP00000398754:p.Gly841fs		Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Frame_Shift_Del	DEL	superfamily_ARM-type_fold	p.G841fs	ENST00000419585.1	37	c.2521	CCDS33696.1	3																																																																																			FANCD2	-	NULL	ENSG00000144554		0.378	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FANCD2	HGNC	protein_coding	OTTHUMT00000339873.1		0.00	77	0	G			10114581	+1	tier1		no_errors	ENST00000287647	ensembl	human	known	74_37	frame_shift_del	5.13	37	2	DEL	1.000	-
FCHO1	23149	genome.wustl.edu	37	19	17898537	17898537	+	Silent	SNP	C	C	T			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr19:17898537C>T	ENST00000596536.1	+	28	2812	c.2529C>T	c.(2527-2529)agC>agT	p.S843S	FCHO1_ENST00000595033.1_Silent_p.S793S|FCHO1_ENST00000597512.1_Silent_p.S850S|FCHO1_ENST00000539407.1_Silent_p.S843S|FCHO1_ENST00000252771.7_Silent_p.S843S|FCHO1_ENST00000389133.4_Silent_p.S843S|FCHO1_ENST00000600676.1_Silent_p.S843S|FCHO1_ENST00000596951.1_Silent_p.S843S|FCHO1_ENST00000594202.1_Silent_p.S843S	NM_015122.2	NP_055937.1	O14526	FCHO1_HUMAN	FCH domain only 1	843	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.|Mediates interaction with AGFG1, CALM, DAB2, EPS15, EPS15R, ITSN1 and clathrin.				clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)	coated pit (GO:0005905)|plasma membrane (GO:0005886)	AP-2 adaptor complex binding (GO:0035612)			NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						CAGGGCCCAGCACACCCAGCC	0.687																																																	0													24.0	20.0	21.0					19																	17898537		2197	4296	6493	SO:0001819	synonymous_variant	0			AB006628	CCDS32955.1, CCDS59365.1, CCDS59366.1	19p13.12	2008-02-05				ENSG00000130475			29002	protein-coding gene	gene with protein product		613437				12477932	Standard	NM_001161357		Approved	KIAA0290	uc002nhg.3	O14526		ENST00000596536.1:c.2529C>T	19.37:g.17898537C>T			A6NHE6|A8K5U5|B4E120|Q05C93|Q8IW22	Silent	SNP	pfam_Muniscin_C-term_mu_dom,pfam_FCH_dom,superfamily_Clathrin_mu_C,smart_FCH_dom,pfscan_FCH_dom	p.S843	ENST00000596536.1	37	c.2529	CCDS32955.1	19																																																																																			FCHO1	-	superfamily_Clathrin_mu_C	ENSG00000130475		0.687	FCHO1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FCHO1	HGNC	protein_coding	OTTHUMT00000466946.2		0.00	101	0	C	NM_015122		17898537	+1			no_errors	ENST00000252771	ensembl	human	known	74_37	silent	5.62	84	5	SNP	1.000	T
FCN2	2220	genome.wustl.edu	37	9	137772729	137772729	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr9:137772729G>A	ENST00000291744.6	+	1	72	c.62G>A	c.(61-63)gGc>gAc	p.G21D	FCN2_ENST00000350339.2_Missense_Mutation_p.G21D	NM_004108.2	NP_004099.2	Q15485	FCN2_HUMAN	ficolin (collagen/fibrinogen domain containing lectin) 2	21					complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|opsonization (GO:0008228)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)|calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	20		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)		TCTTTCCTGGGCATGGCCTGG	0.612																																																	0													38.0	43.0	42.0					9																	137772729		2203	4300	6503	SO:0001583	missense	0			D49353	CCDS6983.1	9q34	2013-09-12	2013-09-12		ENSG00000160339	ENSG00000160339		"""Fibrinogen C domain containing"""	3624	protein-coding gene	gene with protein product	"""hucolin"", ""collagen/fibrinogen domain-containing protein 2"", ""ficolin B"", ""serum lectin p35"", ""L-ficolin"""	601624	"""ficolin (collagen/fibrinogen domain-containing lectin) 2 (hucolin)"""			8884275	Standard	XM_006717015		Approved	P35, FCNL, EBP-37, ficolin-2	uc004cfg.1	Q15485	OTTHUMG00000020892	ENST00000291744.6:c.62G>A	9.37:g.137772729G>A	ENSP00000291744:p.Gly21Asp		A6NFG7|A8K478|Q6IS69|Q7M4P4|Q9UC57	Missense_Mutation	SNP	pfam_Fibrinogen_a/b/g_C_dom,pfam_Collagen,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom	p.G21D	ENST00000291744.6	37	c.62	CCDS6983.1	9	.	.	.	.	.	.	.	.	.	.	G	4.037	0.004409	0.07866	.	.	ENSG00000160339	ENST00000350339;ENST00000291744	T;T	0.60548	0.18;0.74	0.986	0.986	0.19784	.	.	.	.	.	T	0.32556	0.0833	N	0.19112	0.55	0.09310	N	1	P;B	0.36354	0.549;0.309	B;B	0.26770	0.025;0.073	T	0.11275	-1.0594	9	0.35671	T	0.21	.	5.3088	0.15819	0.0:0.0:1.0:0.0	.	21;21	Q15485-2;Q15485	.;FCN2_HUMAN	D	21	ENSP00000291741:G21D;ENSP00000291744:G21D	ENSP00000291744:G21D	G	+	2	0	FCN2	136912550	0.000000	0.05858	0.001000	0.08648	0.011000	0.07611	0.445000	0.21677	0.818000	0.34468	0.591000	0.81541	GGC	FCN2	-	NULL	ENSG00000160339		0.612	FCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCN2	HGNC	protein_coding	OTTHUMT00000054960.1	-	0.00	57	0	G	NM_004108		137772729	+1	tier1	-	no_errors	ENST00000291744	ensembl	human	known	74_37	missense	8.00	46	4	SNP	0.001	A
FEN1	2237	genome.wustl.edu	37	11	61563118	61563118	+	Silent	SNP	C	C	T	rs371846488		TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr11:61563118C>T	ENST00000305885.2	+	2	698	c.285C>T	c.(283-285)ggC>ggT	p.G95G	FADS2_ENST00000574708.1_Intron|TMEM258_ENST00000543510.1_5'Flank	NM_004111.5	NP_004102.1			flap structure-specific endonuclease 1											endometrium(1)|large_intestine(4)|lung(1)|ovary(1)	7						TCAAGTCAGGCGAGCTGGCCA	0.597								Editing and processing nucleases																																									0								C		0,4404		0,0,2202	42.0	45.0	44.0		285	-10.9	0.0	11		44	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	FEN1	NM_004111.5		0,1,6500	TT,TC,CC		0.0116,0.0,0.0077		95/381	61563118	1,13001	2202	4299	6501	SO:0001819	synonymous_variant	0			L37374	CCDS8010.1	11q12	2013-05-08			ENSG00000168496	ENSG00000168496			3650	protein-coding gene	gene with protein product	"""maturation factor-1"", ""DNase IV"""	600393		RAD2		7774922	Standard	NM_004111		Approved	FEN-1, MF1	uc001nsg.3	P39748	OTTHUMG00000168162	ENST00000305885.2:c.285C>T	11.37:g.61563118C>T				Silent	SNP	pfam_XPG_DNA_repair_N,pfam_XPG-I_dom,superfamily_5-3_exonuclease_C,smart_XPG_DNA_repair_N,smart_XPG-I_dom,smart_HhH2,prints_XPG/Rad2	p.G95	ENST00000305885.2	37	c.285	CCDS8010.1	11																																																																																			FEN1	-	pfam_XPG_DNA_repair_N,smart_XPG_DNA_repair_N,prints_XPG/Rad2	ENSG00000168496		0.597	FEN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FEN1	HGNC	protein_coding	OTTHUMT00000398526.1		0.00	21	0	C	NM_004111		61563118	+1			no_errors	ENST00000305885	ensembl	human	known	74_37	silent	5.88	32	2	SNP	0.000	T
FLG	2312	genome.wustl.edu	37	1	152285666	152285666	+	Missense_Mutation	SNP	T	T	G			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr1:152285666T>G	ENST00000368799.1	-	3	1731	c.1696A>C	c.(1696-1698)Agt>Cgt	p.S566R	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	566	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGCTTGCACTTCTGGATCCT	0.542									Ichthyosis																																								0													429.0	406.0	414.0					1																	152285666		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.1696A>C	1.37:g.152285666T>G	ENSP00000357789:p.Ser566Arg		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin	p.S566R	ENST00000368799.1	37	c.1696	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	-	9.042	0.990010	0.18966	.	.	ENSG00000143631	ENST00000368799;ENST00000392689	T	0.01821	4.62	1.63	0.416	0.16416	.	.	.	.	.	T	0.02494	0.0076	M	0.75447	2.3	0.09310	N	1	D	0.76494	0.999	D	0.81914	0.995	T	0.41698	-0.9494	9	0.39692	T	0.17	.	3.5653	0.07897	0.0:0.2226:0.0:0.7774	.	566	P20930	FILA_HUMAN	R	566;98	ENSP00000357789:S566R	ENSP00000357789:S566R	S	-	1	0	FLG	150552290	0.000000	0.05858	0.000000	0.03702	0.093000	0.18481	-0.977000	0.03782	0.102000	0.17638	0.491000	0.48974	AGT	FLG	-	NULL	ENSG00000143631		0.542	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1	-	0.00	186	0	T	NM_002016		152285666	-1	tier1	-	no_errors	ENST00000368799	ensembl	human	known	74_37	missense	25.21	175	59	SNP	0.000	G
PRR36	80164	genome.wustl.edu	37	19	7937784	7937784	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr19:7937784delT	ENST00000539422.1	-	4	600	c.438delA	c.(436-438)aaafs	p.K146fs	CTD-3193O13.9_ENST00000593356.1_5'UTR|CTD-3193O13.11_ENST00000597156.1_lincRNA	NM_001190467.1	NP_001177396.1																					CCTCTGTAGCTTTTCCTCTGG	0.632																																																	0																																										SO:0001589	frameshift_variant	0																														ENST00000539422.1:c.438delA	19.37:g.7937784delT	ENSP00000438970:p.Lys146fs			Frame_Shift_Del	DEL	NULL	p.A147fs	ENST00000539422.1	37	c.438		19																																																																																			CTD-3193O13.9	-	NULL	ENSG00000183248		0.632	CTD-3193O13.9-201	KNOWN	basic|appris_principal	protein_coding	FLJ22184	Clone_based_vega_gene	protein_coding			0.00	46	0	T			7937784	-1	tier1		no_errors	ENST00000539422	ensembl	human	known	74_37	frame_shift_del	6.67	28	2	DEL	0.938	-
FMN2	56776	genome.wustl.edu	37	1	240255585	240255585	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr1:240255585G>A	ENST00000319653.9	+	1	406	c.176G>A	c.(175-177)gGg>gAg	p.G59E		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	59					cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			ggcggcggcggggAGTCGGGC	0.672																																																	0													5.0	7.0	6.0					1																	240255585		2121	4157	6278	SO:0001583	missense	0			AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.176G>A	1.37:g.240255585G>A	ENSP00000318884:p.Gly59Glu		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	pfam_FH2_Formin,pfam_Formin_homology_1,smart_FH2_Formin,pfscan_DEP_dom	p.G59E	ENST00000319653.9	37	c.176	CCDS31069.2	1	.	.	.	.	.	.	.	.	.	.	G	4.094	0.015394	0.07959	.	.	ENSG00000155816	ENST00000319653	T	0.36878	1.23	.	.	.	.	0.396632	0.21710	N	0.070288	T	0.32071	0.0817	L	0.53249	1.67	0.80722	D	1	.	.	.	.	.	.	T	0.10567	-1.0624	6	0.07482	T	0.82	.	.	.	.	.	59	Q9NZ56	FMN2_HUMAN	E	59	ENSP00000318884:G59E	ENSP00000318884:G59E	G	+	2	0	FMN2	238322208	0.902000	0.30710	0.981000	0.43875	0.932000	0.56968	0.000000	0.12993	0.000000	0.14550	0.000000	0.15137	GGG	FMN2	-	NULL	ENSG00000155816		0.672	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMN2	HGNC	protein_coding	OTTHUMT00000096217.2		0.00	34	0	G	XM_371352		240255585	+1			no_errors	ENST00000319653	ensembl	human	known	74_37	missense	6.76	69	5	SNP	0.941	A
FUT9	10690	genome.wustl.edu	37	6	96651269	96651269	+	Missense_Mutation	SNP	A	A	T			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr6:96651269A>T	ENST00000302103.5	+	3	564	c.238A>T	c.(238-240)Aca>Tca	p.T80S		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	80					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|nervous system development (GO:0007399)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		CTTTGACCTTACATCCTGCCA	0.428																																					Melanoma(98;1369 1476 6592 22940 26587)												0													148.0	130.0	136.0					6																	96651269		2203	4300	6503	SO:0001583	missense	0			AB023021	CCDS5033.1	6q16	2013-02-26			ENSG00000172461	ENSG00000172461		"""Fucosyltransferases"""	4020	protein-coding gene	gene with protein product		606865				10386598, 10575236	Standard	NM_006581		Approved	Fuc-TIX	uc003pop.4	Q9Y231	OTTHUMG00000015236	ENST00000302103.5:c.238A>T	6.37:g.96651269A>T	ENSP00000302599:p.Thr80Ser		Q5T0W4	Missense_Mutation	SNP	pfam_Glyco_trans_10	p.T80S	ENST00000302103.5	37	c.238	CCDS5033.1	6	.	.	.	.	.	.	.	.	.	.	A	4.461	0.085313	0.08583	.	.	ENSG00000172461	ENST00000302103	T	0.21734	1.99	5.27	4.03	0.46877	.	0.275476	0.41396	D	0.000886	T	0.01558	0.0050	N	0.00864	-1.135	0.29499	N	0.855074	B	0.02656	0.0	B	0.04013	0.001	T	0.43523	-0.9386	10	0.05525	T	0.97	-11.8877	11.2786	0.49181	0.8639:0.0:0.0:0.1361	.	80	Q9Y231	FUT9_HUMAN	S	80	ENSP00000302599:T80S	ENSP00000302599:T80S	T	+	1	0	FUT9	96757990	0.226000	0.23696	0.999000	0.59377	0.994000	0.84299	3.437000	0.52863	2.115000	0.64714	0.533000	0.62120	ACA	FUT9	-	pfam_Glyco_trans_10	ENSG00000172461		0.428	FUT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FUT9	HGNC	protein_coding	OTTHUMT00000041554.2	-	0.00	50	0	A	NM_006581		96651269	+1	tier1	-	no_errors	ENST00000302103	ensembl	human	known	74_37	missense	35.29	33	18	SNP	0.997	T
GAMT	2593	genome.wustl.edu	37	19	1399821	1399821	+	Silent	SNP	G	G	T	rs552210450	byFrequency	TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr19:1399821G>T	ENST00000252288.2	-	2	364	c.298C>A	c.(298-300)Cgg>Agg	p.R100R	GAMT_ENST00000447102.3_Silent_p.R100R	NM_000156.5	NP_000147.1	Q14353	GAMT_HUMAN	guanidinoacetate N-methyltransferase	100	RMT2. {ECO:0000255|PROSITE- ProRule:PRU00892}.				cellular nitrogen compound metabolic process (GO:0034641)|creatine biosynthetic process (GO:0006601)|creatine metabolic process (GO:0006600)|muscle contraction (GO:0006936)|organ morphogenesis (GO:0009887)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	guanidinoacetate N-methyltransferase activity (GO:0030731)|methyltransferase activity (GO:0008168)			central_nervous_system(1)|endometrium(3)|kidney(1)|upper_aerodigestive_tract(1)	6		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Lung NSC(49;0.000195)|Breast(49;0.000231)|all_lung(49;0.000247)|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)	Creatine(DB00148)|Guanidine(DB00536)	GCCCAGTCCCGGAGCCGCTGG	0.657																																					Colon(167;1531 1939 13427 28842 31956)												0													28.0	26.0	27.0					19																	1399821		2182	4286	6468	SO:0001819	synonymous_variant	0			Z49878	CCDS12064.1, CCDS45897.1	19p13.3	2008-02-05							4136	protein-coding gene	gene with protein product		601240				9570966, 8547310	Standard	NM_000156		Approved	PIG2, TP53I2	uc002lsk.4	Q14353		ENST00000252288.2:c.298C>A	19.37:g.1399821G>T			A8K0A0|Q53Y34|Q8WVJ1	Silent	SNP	NULL	p.R100	ENST00000252288.2	37	c.298	CCDS12064.1	19																																																																																			GAMT	-	NULL	ENSG00000130005		0.657	GAMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAMT	HGNC	protein_coding	OTTHUMT00000449739.1		0.00	48	0	G	NM_138924		1399821	-1			no_errors	ENST00000447102	ensembl	human	known	74_37	silent	6.98	40	3	SNP	0.998	T
GK2	2712	genome.wustl.edu	37	4	80329142	80329142	+	Silent	SNP	C	C	T			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr4:80329142C>T	ENST00000358842.3	-	1	230	c.213G>A	c.(211-213)acG>acA	p.T71T		NM_033214.2	NP_149991.2	Q01415	GALK2_HUMAN	glycerol kinase 2	228					carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|galactokinase activity (GO:0004335)|N-acetylgalactosamine kinase activity (GO:0033858)			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						GTTTCTCACACGTTCTCGCTA	0.403																																																	0													179.0	176.0	177.0					4																	80329142		2203	4300	6503	SO:0001819	synonymous_variant	0			BC029820	CCDS3585.1	4q13	2008-02-05	2002-10-03	2002-10-04	ENSG00000196475	ENSG00000196475		"""Glycerol kinases"""	4291	protein-coding gene	gene with protein product		600148	"""glycerol kinase pseudogene 2"""	GKP2		7987308	Standard	NM_033214		Approved	GKTA	uc003hlu.3	Q14410	OTTHUMG00000130199	ENST00000358842.3:c.213G>A	4.37:g.80329142C>T			Q7Z4Q4	Silent	SNP	pfam_Carb_kinase_FGGY_N,pfam_Carb_kinase_FGGY_C,tigrfam_Glycerol_kin	p.T71	ENST00000358842.3	37	c.213	CCDS3585.1	4																																																																																			GK2	-	pfam_Carb_kinase_FGGY_N,tigrfam_Glycerol_kin	ENSG00000196475		0.403	GK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GK2	HGNC	protein_coding	OTTHUMT00000252517.2	-	0.00	64	0	C	NM_033214		80329142	-1	tier1	-	no_errors	ENST00000358842	ensembl	human	known	74_37	silent	38.30	29	18	SNP	0.808	T
GLB1L3	112937	genome.wustl.edu	37	11	134179592	134179592	+	Missense_Mutation	SNP	C	C	G			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr11:134179592C>G	ENST00000431683.2	+	11	1034	c.1034C>G	c.(1033-1035)aCc>aGc	p.T345S		NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	345					carbohydrate metabolic process (GO:0005975)		beta-galactosidase activity (GO:0004565)			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		CATGGTGGAACCAACTTTGGT	0.468																																																	0													87.0	83.0	84.0					11																	134179592		1921	4107	6028	SO:0001583	missense	0				CCDS44780.1	11q25	2008-11-06	2008-01-29		ENSG00000166105	ENSG00000166105			25147	protein-coding gene	gene with protein product						12477932	Standard	NM_001080407		Approved	FLJ90231	uc009zdf.3	Q8NCI6	OTTHUMG00000133524	ENST00000431683.2:c.1034C>G	11.37:g.134179592C>G	ENSP00000396615:p.Thr345Ser		A6NEM0|A6NN15|Q6P3S3|Q96FF8	Missense_Mutation	SNP	pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,prints_Glycoside_Hdrlase_35	p.T345S	ENST00000431683.2	37	c.1034	CCDS44780.1	11	.	.	.	.	.	.	.	.	.	.	C	16.94	3.261821	0.59431	.	.	ENSG00000166105	ENST00000431683	D	0.99136	-5.47	4.76	3.84	0.44239	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.225081	0.45126	D	0.000397	D	0.99055	0.9676	M	0.84585	2.705	0.46499	D	0.999077	D;D	0.76494	0.999;0.995	D;D	0.72982	0.976;0.979	D	0.98446	1.0589	10	0.66056	D	0.02	.	8.1902	0.31363	0.0:0.8938:0.0:0.1062	.	6;345	Q8NCI6-2;Q8NCI6	.;GLBL3_HUMAN	S	345	ENSP00000396615:T345S	ENSP00000396615:T345S	T	+	2	0	GLB1L3	133684802	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	3.865000	0.56033	2.619000	0.88677	0.455000	0.32223	ACC	GLB1L3	-	pfam_Glycoside_Hdrlase_35,superfamily_Glycoside_hydrolase_SF,prints_Glycoside_Hdrlase_35	ENSG00000166105		0.468	GLB1L3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	GLB1L3	HGNC	protein_coding	OTTHUMT00000393625.1	-	0.00	60	0	C	NM_138416		134179592	+1	tier1	-	no_errors	ENST00000431683	ensembl	human	known	74_37	missense	63.10	31	53	SNP	1.000	G
GLE1	2733	genome.wustl.edu	37	9	131295828	131295828	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr9:131295828G>A	ENST00000309971.4	+	10	1455	c.1349G>A	c.(1348-1350)aGc>aAc	p.S450N	GLE1_ENST00000494417.1_3'UTR|RP11-216B9.6_ENST00000434999.1_RNA|GLE1_ENST00000539582.1_Missense_Mutation_p.S196N|GLE1_ENST00000372770.4_Missense_Mutation_p.S450N	NM_001003722.1	NP_001003722.1	Q53GS7	GLE1_HUMAN	GLE1 RNA export mediator	450	Mediates the shuttling between the nucleus and the cytoplasm.				mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear pore (GO:0005643)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)	p.S450N(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	16						AAGATCCACAGCCTGCTCTCT	0.423																																																	2	Substitution - Missense(2)	endometrium(2)											95.0	98.0	97.0					9																	131295828		2203	4300	6503	SO:0001583	missense	0			AF058922	CCDS6904.1, CCDS35154.1	9q34.13	2014-09-17	2013-06-18	2007-10-04	ENSG00000119392	ENSG00000119392			4315	protein-coding gene	gene with protein product		603371	"""GLE1 (yeast homolog)-like, RNA export mediator"", ""GLE1 RNA export mediator-like (yeast)"", ""GLE1 RNA export mediator (yeast)"", ""lethal congenital contracture syndrome 1"", ""GLE1 RNA export mediator homolog (yeast)"""	GLE1L, LCCS1		9618489, 18204449	Standard	NM_001499		Approved	hGLE1	uc004bvj.3	Q53GS7	OTTHUMG00000020749	ENST00000309971.4:c.1349G>A	9.37:g.131295828G>A	ENSP00000308622:p.Ser450Asn		O75458|Q53GT9|Q5VVU1|Q8NCP6|Q9UFL6	Missense_Mutation	SNP	pfam_GLE1	p.S450N	ENST00000309971.4	37	c.1349	CCDS35154.1	9	.	.	.	.	.	.	.	.	.	.	G	5.499	0.277050	0.10403	.	.	ENSG00000119392	ENST00000309971;ENST00000372770;ENST00000539582	T;T;T	0.72615	-0.67;-0.67;-0.67	5.82	0.912	0.19349	.	0.382752	0.34507	N	0.003910	T	0.36744	0.0978	N	0.02202	-0.64	0.23459	N	0.997636	B;B	0.09022	0.002;0.001	B;B	0.09377	0.004;0.004	T	0.25779	-1.0122	10	0.11485	T	0.65	-10.3892	7.3916	0.26913	0.6643:0.0:0.3357:0.0	.	450;450	Q53GS7;Q53GS7-2	GLE1_HUMAN;.	N	450;450;196	ENSP00000308622:S450N;ENSP00000361856:S450N;ENSP00000438670:S196N	ENSP00000308622:S450N	S	+	2	0	GLE1	130335649	0.998000	0.40836	1.000000	0.80357	0.995000	0.86356	1.419000	0.34793	0.246000	0.21394	0.561000	0.74099	AGC	GLE1	-	pfam_GLE1	ENSG00000119392		0.423	GLE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GLE1	HGNC	protein_coding	OTTHUMT00000054456.1		0.00	43	0	G	NM_001003722		131295828	+1			no_errors	ENST00000309971	ensembl	human	known	74_37	missense	5.56	33	2	SNP	0.997	A
GPR179	440435	genome.wustl.edu	37	17	36484880	36484880	+	Silent	SNP	T	T	C	rs374596840		TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr17:36484880T>C	ENST00000342292.4	-	11	4592	c.4572A>G	c.(4570-4572)gcA>gcG	p.A1524A	GPR179_ENST00000584976.1_5'Flank	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1524					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				ATTTCTGCACTGCTTTCACAG	0.488																																																	0													165.0	169.0	168.0					17																	36484880		2062	4219	6281	SO:0001819	synonymous_variant	0				CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"""GPCR / Class C : Orphans"""	31371	protein-coding gene	gene with protein product		614515	"""GPR158-like 1"", ""GPR179"""	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.4572A>G	17.37:g.36484880T>C				Silent	SNP	pfam_GPCR_3_C,superfamily_Growth_fac_rcpt_N_dom,pfscan_GPCR_3_C	p.A1524	ENST00000342292.4	37	c.4572	CCDS42308.1	17																																																																																			GPR179	-	NULL	ENSG00000188888		0.488	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR179	HGNC	protein_coding	OTTHUMT00000255329.2	-	0.00	57	0	T			36484880	-1	tier1	-	no_errors	ENST00000342292	ensembl	human	known	74_37	silent	7.69	48	4	SNP	0.000	C
GPATCH8	23131	genome.wustl.edu	37	17	42483347	42483347	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr17:42483347G>T	ENST00000591680.1	-	7	595	c.565C>A	c.(565-567)Cag>Aag	p.Q189K	GPATCH8_ENST00000434000.1_Missense_Mutation_p.Q111K	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	189							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		GCTTTTTCCTGTTTTTTCTCA	0.398																																																	0													78.0	81.0	80.0					17																	42483347		2203	4300	6503	SO:0001583	missense	0			AB011125	CCDS32666.1	17q21.31	2013-01-28	2006-08-22	2006-12-13	ENSG00000186566	ENSG00000186566		"""G patch domain containing"""	29066	protein-coding gene	gene with protein product		614396	"""KIAA0553"""	KIAA0553, GPATC8		9628581	Standard	NM_001002909		Approved		uc002igw.2	Q9UKJ3	OTTHUMG00000181818	ENST00000591680.1:c.565C>A	17.37:g.42483347G>T	ENSP00000467556:p.Gln189Lys		B9EGP9|O60300|Q8TB99	Missense_Mutation	SNP	pfam_G_patch_dom,pfam_Znf_C2H2_jaz,smart_G_patch_dom,pfscan_Znf_C2H2,pfscan_G_patch_dom	p.Q189K	ENST00000591680.1	37	c.565	CCDS32666.1	17	.	.	.	.	.	.	.	.	.	.	G	16.92	3.256299	0.59321	.	.	ENSG00000186566	ENST00000335500;ENST00000434000	T	0.15487	2.42	5.59	4.61	0.57282	.	0.056145	0.64402	N	0.000001	T	0.24431	0.0592	M	0.74467	2.265	0.52501	D	0.999953	B	0.25719	0.132	B	0.21546	0.035	T	0.04621	-1.0938	10	0.62326	D	0.03	-15.1266	15.7983	0.78428	0.0:0.0:0.8628:0.1372	.	189	Q9UKJ3	GPTC8_HUMAN	K	189;111	ENSP00000395016:Q111K	ENSP00000335486:Q189K	Q	-	1	0	GPATCH8	39838873	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	1.343000	0.45638	0.655000	0.94253	CAG	GPATCH8	-	NULL	ENSG00000186566		0.398	GPATCH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPATCH8	HGNC	protein_coding	OTTHUMT00000457797.1		0.00	39	0	G	NM_001002909		42483347	-1			no_errors	ENST00000591680	ensembl	human	known	74_37	missense	5.00	38	2	SNP	1.000	T
GPR56	9289	genome.wustl.edu	37	16	57691341	57691341	+	Silent	SNP	C	C	T			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr16:57691341C>T	ENST00000388812.4	+	10	1664	c.1224C>T	c.(1222-1224)taC>taT	p.Y408Y	GPR56_ENST00000568909.1_Silent_p.Y408Y|GPR56_ENST00000456916.1_Silent_p.Y408Y|GPR56_ENST00000562558.1_Silent_p.Y408Y|GPR56_ENST00000562631.1_Silent_p.Y408Y|GPR56_ENST00000379696.3_Silent_p.Y408Y|GPR56_ENST00000567835.1_Silent_p.Y408Y|GPR56_ENST00000544297.1_Silent_p.Y233Y|GPR56_ENST00000538815.1_Silent_p.Y408Y|GPR56_ENST00000540164.2_Silent_p.Y408Y|GPR56_ENST00000379694.4_Silent_p.Y238Y|GPR56_ENST00000568908.1_Silent_p.Y408Y|GPR56_ENST00000388813.5_Silent_p.Y408Y			Q9Y653	GPR56_HUMAN	G protein-coupled receptor 56	408					angiogenesis (GO:0001525)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cerebral cortex radial glia guided migration (GO:0021801)|G-protein coupled receptor signaling pathway (GO:0007186)|layer formation in cerebral cortex (GO:0021819)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron migration (GO:2001223)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cell adhesion (GO:0045785)|positive regulation of Rho protein signal transduction (GO:0035025)|protein kinase C signaling (GO:0070528)|Rho protein signal transduction (GO:0007266)|vascular endothelial growth factor production (GO:0010573)	extracellular vesicular exosome (GO:0070062)|glial limiting end-foot (GO:0097451)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)|G-protein coupled receptor activity (GO:0004930)			kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	15						TCCTCTCCTACGTGGGCTGTG	0.657																																																	0													184.0	155.0	165.0					16																	57691341		2198	4300	6498	SO:0001819	synonymous_variant	0			AJ011001	CCDS32460.1, CCDS32461.1, CCDS73893.1	16q13	2014-08-08				ENSG00000205336		"""-"", ""GPCR / Class B : Orphans"""	4512	protein-coding gene	gene with protein product		604110				10049584, 10100861	Standard	XM_005256237		Approved	TM7LN4, TM7XN1	uc002emb.2	Q9Y653		ENST00000388812.4:c.1224C>T	16.37:g.57691341C>T			A6NIT7|A6NJV9|B0M0K4|B4DR54|O95966|Q6ZMP1|Q8NGB3|Q96HB4	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,prints_GPCR_2_orphan_rcpt_GPR56,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_GPCR_2-like	p.Y408	ENST00000388812.4	37	c.1224	CCDS32460.1	16																																																																																			GPR56	-	pfam_GPCR_2_secretin-like,prints_GPCR_2_secretin-like,pfscan_GPCR_2-like	ENSG00000205336		0.657	GPR56-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPR56	HGNC	protein_coding	OTTHUMT00000433436.3	-	0.00	62	0	C			57691341	+1	tier1	-	no_errors	ENST00000379696	ensembl	human	known	74_37	silent	42.42	38	28	SNP	1.000	T
GPSM2	29899	genome.wustl.edu	37	1	109444432	109444432	+	Missense_Mutation	SNP	G	G	A	rs77121685		TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr1:109444432G>A	ENST00000406462.2	+	9	1591	c.818G>A	c.(817-819)cGa>cAa	p.R273Q	GPSM2_ENST00000264126.3_Missense_Mutation_p.R273Q|AKNAD1_ENST00000357393.4_Intron			P81274	GPSM2_HUMAN	G-protein signaling modulator 2	273					establishment of mitotic spindle orientation (GO:0000132)|G-protein coupled receptor signaling pathway (GO:0007186)|lung epithelial cell differentiation (GO:0060487)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTPase regulator activity (GO:0030695)|identical protein binding (GO:0042802)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)	14		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209)		CTGTTGGCCCGACAGCTTAAA	0.348													G|||	1	0.000199681	0.0	0.0	5008	,	,		17727	0.001		0.0	False		,,,				2504	0.0																0													84.0	81.0	82.0					1																	109444432		2203	4300	6503	SO:0001583	missense	0			AY136740	CCDS792.2	1p13.3	2013-10-11	2010-06-24		ENSG00000121957	ENSG00000121957		"""Tetratricopeptide (TTC) repeat domain containing"""	29501	protein-coding gene	gene with protein product		609245	"""G-protein signalling modulator 2 (AGS3-like, C. elegans)"", ""deafness, autosomal recessive 82"""	DFNB82		11832491, 8973305, 19888295, 20602914, 21348867	Standard	NM_013296		Approved	LGN, Pins	uc010ovc.2	P81274	OTTHUMG00000011730	ENST00000406462.2:c.818G>A	1.37:g.109444432G>A	ENSP00000385510:p.Arg273Gln		Q5T1N8|Q6IBL7|Q8N0Z5	Missense_Mutation	SNP	pfam_GoLoco_motif,pfam_TPR_1,pfam_TPR-4,smart_TPR_repeat,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.R273Q	ENST00000406462.2	37	c.818	CCDS792.2	1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	22.7	4.318839	0.81469	.	.	ENSG00000121957	ENST00000406462;ENST00000264126	D;D	0.94723	-3.5;-3.5	5.9	5.9	0.94986	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.88258	0.6388	L	0.39514	1.22	0.54753	D	0.99998	P	0.48911	0.917	B	0.35688	0.208	D	0.88036	0.2778	10	0.33940	T	0.23	-6.723	20.2723	0.98479	0.0:0.0:1.0:0.0	.	273	P81274	GPSM2_HUMAN	Q	273	ENSP00000385510:R273Q;ENSP00000264126:R273Q	ENSP00000264126:R273Q	R	+	2	0	GPSM2	109245955	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.869000	0.99810	2.793000	0.96121	0.563000	0.77884	CGA	GPSM2	-	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000121957		0.348	GPSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPSM2	HGNC	protein_coding	OTTHUMT00000032400.3		0.00	36	0	G	NM_013296		109444432	+1			no_errors	ENST00000264126	ensembl	human	known	74_37	missense	5.71	33	2	SNP	1.000	A
GPT2	84706	genome.wustl.edu	37	16	46956203	46956203	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr16:46956203delA	ENST00000340124.4	+	9	1199	c.1087delA	c.(1087-1089)atcfs	p.I363fs	GPT2_ENST00000440783.2_Frame_Shift_Del_p.I263fs	NM_133443.2	NP_597700.1	Q8TD30	ALAT2_HUMAN	glutamic pyruvate transaminase (alanine aminotransferase) 2	363					2-oxoglutarate metabolic process (GO:0006103)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-alanine catabolic process (GO:0042853)|L-alanine metabolic process (GO:0042851)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	L-alanine:2-oxoglutarate aminotransferase activity (GO:0004021)|pyridoxal phosphate binding (GO:0030170)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522)			L-Alanine(DB00160)|Phenelzine(DB00780)	GCACCCTGAGATCAAGGGCCA	0.602																																																	0													97.0	80.0	86.0					16																	46956203		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS10725.1, CCDS45478.1	16q12.1	2008-02-05			ENSG00000166123	ENSG00000166123	2.6.1.2		18062	protein-coding gene	gene with protein product		138210					Standard	NM_133443		Approved	ALT2	uc002eel.3	Q8TD30	OTTHUMG00000132541	ENST00000340124.4:c.1087delA	16.37:g.46956203delA	ENSP00000345282:p.Ile363fs		Q8N9E2	Frame_Shift_Del	DEL	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase	p.I363fs	ENST00000340124.4	37	c.1087	CCDS10725.1	16																																																																																			GPT2	-	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase	ENSG00000166123		0.602	GPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPT2	HGNC	protein_coding	OTTHUMT00000255741.2		0.00	50	0	A			46956203	+1	tier1		no_errors	ENST00000340124	ensembl	human	known	74_37	frame_shift_del	32.89	51	25	DEL	1.000	-
GRK4	2868	genome.wustl.edu	37	4	3030968	3030968	+	Silent	SNP	C	C	T	rs147908042		TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr4:3030968C>T	ENST00000398052.4	+	12	1444	c.1101C>T	c.(1099-1101)ccC>ccT	p.P367P	GRK4_ENST00000504933.1_Silent_p.P367P|GRK4_ENST00000398051.4_Silent_p.P335P|GRK4_ENST00000509545.1_3'UTR|GRK4_ENST00000345167.6_Silent_p.P335P	NM_182982.2	NP_892027.2	P32298	GRK4_HUMAN	G protein-coupled receptor kinase 4	367	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				G-protein coupled receptor internalization (GO:0002031)|receptor internalization (GO:0031623)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|rhodopsin kinase activity (GO:0050254)			lung(1)|upper_aerodigestive_tract(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CGTTTAGTCCCGATTGGTGGG	0.333																																																	0								C	,,	0,4406		0,0,2203	88.0	89.0	88.0		1005,1101,1101	1.2	1.0	4	dbSNP_134	88	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	GRK4	NM_001004056.1,NM_001004057.1,NM_182982.2	,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	335/547,367/533,367/579	3030968	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS33946.1, CCDS33947.1, CCDS47002.1, CCDS68656.1	4p16.3	2008-02-05	2004-02-04	2004-02-06	ENSG00000125388	ENSG00000125388			4543	protein-coding gene	gene with protein product		137026	"""G protein-coupled receptor kinase 2-like (Drosophila)"""	GPRK2L		1338872	Standard	NM_182982		Approved	GPRK4	uc003ggn.1	P32298	OTTHUMG00000159914	ENST00000398052.4:c.1101C>T	4.37:g.3030968C>T			O00641|O00642|Q13293|Q13294|Q13295|Q14453|Q14725|Q15313|Q15314|Q15315|Q15316|Q17RH6|Q53EQ8	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RGS_dom,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Regulat_G_prot_signal_superfam,pfscan_Prot_kinase_dom,prints_GPCR_kinase	p.P367	ENST00000398052.4	37	c.1101	CCDS33946.1	4																																																																																			GRK4	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000125388		0.333	GRK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRK4	HGNC	protein_coding	OTTHUMT00000358176.2	-	0.00	88	0	C	NM_005307		3030968	+1	tier1	rs147908042	no_errors	ENST00000398052	ensembl	human	known	74_37	silent	85.33	11	64	SNP	0.995	T
GSAP	54103	genome.wustl.edu	37	7	77011915	77011915	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr7:77011915G>T	ENST00000257626.7	-	7	580	c.502C>A	c.(502-504)Ctg>Atg	p.L168M		NM_017439.3	NP_059135.2	A4D1B5	GSAP_HUMAN	gamma-secretase activating protein	168					positive regulation of beta-amyloid formation (GO:1902004)|regulation of proteolysis (GO:0030162)	trans-Golgi network (GO:0005802)	beta-amyloid binding (GO:0001540)										ATCAGTAACAGATGGTTCTCT	0.343																																																	0													90.0	85.0	87.0					7																	77011915		1838	4081	5919	SO:0001583	missense	0				CCDS34672.2	7q11.23	2013-04-05	2013-04-05	2013-04-05	ENSG00000186088	ENSG00000186088			28042	protein-coding gene	gene with protein product		613552	"""pigeon homolog (Drosophila)"""	PION		20811458	Standard	NM_017439		Approved	LOC54103	uc003ugf.3	A4D1B5	OTTHUMG00000150504	ENST00000257626.7:c.502C>A	7.37:g.77011915G>T	ENSP00000257626:p.Leu168Met		A4D1B6|Q3MJC0|Q8ND73|Q9UMH3|Q9Y4L9	Missense_Mutation	SNP	NULL	p.L168M	ENST00000257626.7	37	c.502	CCDS34672.2	7	.	.	.	.	.	.	.	.	.	.	G	18.24	3.580808	0.65992	.	.	ENSG00000186088	ENST00000257626	T	0.44482	0.92	5.79	4.92	0.64577	.	0.348218	0.18419	U	0.141806	T	0.54822	0.1882	M	0.69823	2.125	0.80722	D	1	D	0.55605	0.972	P	0.55667	0.781	T	0.51601	-0.8685	10	0.18276	T	0.48	.	13.905	0.63828	0.0742:0.0:0.9258:0.0	.	168	A4D1B5	GSAP_HUMAN	M	168	ENSP00000257626:L168M	ENSP00000257626:L168M	L	-	1	2	PION	76849851	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.332000	0.59279	1.456000	0.47831	0.650000	0.86243	CTG	GSAP	-	NULL	ENSG00000186088		0.343	GSAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSAP	HGNC	protein_coding	OTTHUMT00000318672.2		0.00	54	0	G	NM_017439		77011915	-1			no_errors	ENST00000257626	ensembl	human	known	74_37	missense	5.63	67	4	SNP	1.000	T
HAS1	3036	genome.wustl.edu	37	19	52222714	52222714	+	Silent	SNP	G	G	A			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr19:52222714G>A	ENST00000222115.1	-	2	481	c.447C>T	c.(445-447)cgC>cgT	p.R149R	HAS1_ENST00000594621.1_Silent_p.R3R|HAS1_ENST00000601714.1_Silent_p.R156R|HAS1_ENST00000540069.2_Silent_p.R148R	NM_001523.2	NP_001514.2	Q92839	HYAS1_HUMAN	hyaluronan synthase 1	149					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|negative regulation of fibroblast migration (GO:0010764)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronan synthase activity (GO:0050501)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		CGAAGACCTCGCGGAACATGT	0.726																																					NSCLC(132;636 2450 45807 47979)												0													11.0	10.0	11.0					19																	52222714		2082	4022	6104	SO:0001819	synonymous_variant	0			U59269	CCDS12838.1, CCDS74436.1	19q13.3-q13.4	2013-02-22			ENSG00000105509	ENSG00000105509	2.4.1.212	"""Glycosyltransferase family 2 domain containing"""	4818	protein-coding gene	gene with protein product		601463		HAS		9169154	Standard	XM_005258834		Approved		uc002pxo.1	Q92839		ENST00000222115.1:c.447C>T	19.37:g.52222714G>A			Q14470|Q9NS49	Silent	SNP	pfam_Chitin_synth_fng,pfam_Glyco_trans_2	p.R156	ENST00000222115.1	37	c.468	CCDS12838.1	19																																																																																			HAS1	-	NULL	ENSG00000105509		0.726	HAS1-005	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	HAS1	HGNC	protein_coding	OTTHUMT00000466953.1		0.00	71	0	G	NM_001523		52222714	-1			no_errors	ENST00000601714	ensembl	human	known	74_37	silent	6.78	55	4	SNP	0.993	A
HEATR5A	25938	genome.wustl.edu	37	14	31844022	31844022	+	Splice_Site	SNP	C	C	A			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr14:31844022C>A	ENST00000389961.3	-	11	1842	c.1843G>T	c.(1843-1845)Gct>Tct	p.A615S	HEATR5A_ENST00000439727.1_Splice_Site_p.A328S|HEATR5A_ENST00000543095.2_Splice_Site_p.A621S|HEATR5A_ENST00000404677.3_Splice_Site_p.A621S|HEATR5A_ENST00000439348.1_Splice_Site_p.A615S			Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	615								p.A615S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		TCCAACCTACCACACAGTGCA	0.448																																																	1	Substitution - Missense(1)	central_nervous_system(1)											54.0	57.0	56.0					14																	31844022		1975	4157	6132	SO:0001630	splice_region_variant	0			AB037737		14q12	2012-04-19	2007-01-02	2007-01-02	ENSG00000129493	ENSG00000129493			20276	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 125"""	C14orf125			Standard	NM_015473		Approved	DKFZP434I1735	uc001wrf.4	Q86XA9	OTTHUMG00000169043	ENST00000389961.3:c.1843+1G>T	14.37:g.31844022C>A			Q68DD8|Q6P3S5|Q6P5R9|Q9H8D7|Q9NXB7|Q9P2N0|Q9UFQ3	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.A615S	ENST00000389961.3	37	c.1843		14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.68|19.68	3.873000|3.873000	0.72180|0.72180	.|.	.|.	ENSG00000129493|ENSG00000129493	ENST00000389961;ENST00000439348;ENST00000439727;ENST00000543095;ENST00000404677|ENST00000550366	T;T;T;T;T|T	0.68479|0.64260	-0.33;-0.33;-0.33;-0.33;-0.33|-0.09	5.75|5.75	5.75|5.75	0.90469|0.90469	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.055154|.	0.64402|.	D|.	0.000001|.	T|T	0.69088|0.69088	0.3072|0.3072	L|L	0.44542|0.44542	1.39|1.39	0.80722|0.80722	D|D	1|1	D;B;B|.	0.67145|.	0.996;0.187;0.024|.	P;B;B|.	0.62813|.	0.907;0.12;0.045|.	T|T	0.63346|0.63346	-0.6658|-0.6658	9|6	.|.	.|.	.|.	.|.	19.9327|19.9327	0.97127|0.97127	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	621;615;615|.	B5MC49;Q86XA9-2;Q86XA9|.	.;.;HTR5A_HUMAN|.	S|F	615;615;328;621;621|263	ENSP00000374611:A615S;ENSP00000405407:A615S;ENSP00000408681:A328S;ENSP00000437968:A621S;ENSP00000384646:A621S|ENSP00000450296:C263F	.|.	A|C	-|-	1|2	0|0	HEATR5A|HEATR5A	30913773|30913773	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.932000|0.932000	0.56968|0.56968	7.750000|7.750000	0.85110|0.85110	2.707000|2.707000	0.92482|0.92482	0.650000|0.650000	0.86243|0.86243	GCT|TGC	HEATR5A	-	superfamily_ARM-type_fold	ENSG00000129493		0.448	HEATR5A-201	KNOWN	basic|appris_candidate	protein_coding	HEATR5A	HGNC	protein_coding			0.00	62	0	C	NM_015473	Missense_Mutation	31844022	-1			no_errors	ENST00000389961	ensembl	human	known	74_37	missense	6.06	31	2	SNP	1.000	A
HEATR6	63897	genome.wustl.edu	37	17	58145047	58145047	+	Missense_Mutation	SNP	C	C	A			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr17:58145047C>A	ENST00000184956.6	-	8	1002	c.986G>T	c.(985-987)gGa>gTa	p.G329V	HEATR6_ENST00000585976.1_Missense_Mutation_p.G329V	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	329							poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			CTCCTCCTCTCCTTGCTGGAT	0.428																																																	0													135.0	131.0	132.0					17																	58145047		2203	4300	6503	SO:0001583	missense	0			BX640819	CCDS11623.1	17q23.2	2007-05-01				ENSG00000068097			24076	protein-coding gene	gene with protein product	"""amplified in breast cancer 1"""					12755490	Standard	NM_022070		Approved	ABC1, FLJ22087	uc002iyk.1	Q6AI08		ENST00000184956.6:c.986G>T	17.37:g.58145047C>A	ENSP00000184956:p.Gly329Val		B3KXP3|Q6MZX1|Q6MZY2|Q8TDM9|Q9H6B3|Q9H6M7	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.G329V	ENST00000184956.6	37	c.986	CCDS11623.1	17	.	.	.	.	.	.	.	.	.	.	C	12.83	2.056140	0.36277	.	.	ENSG00000068097	ENST00000184956;ENST00000393017	T	0.43294	0.95	5.04	4.06	0.47325	Armadillo-type fold (1);	0.348278	0.30227	N	0.010120	T	0.44286	0.1286	L	0.57536	1.79	0.80722	D	1	D;D	0.59767	0.972;0.986	P;P	0.48304	0.573;0.573	T	0.39143	-0.9628	10	0.45353	T	0.12	-7.6405	10.2986	0.43639	0.0:0.7883:0.1352:0.0764	.	176;329	E7ESB9;Q6AI08	.;HEAT6_HUMAN	V	329;176	ENSP00000184956:G329V	ENSP00000184956:G329V	G	-	2	0	HEATR6	55499829	0.000000	0.05858	0.999000	0.59377	0.953000	0.61014	-0.382000	0.07408	1.261000	0.44149	-0.156000	0.13503	GGA	HEATR6	-	superfamily_ARM-type_fold	ENSG00000068097		0.428	HEATR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR6	HGNC	protein_coding	OTTHUMT00000449165.1		0.00	34	0	C	NM_022070		58145047	-1			no_errors	ENST00000184956	ensembl	human	known	74_37	missense	6.82	41	3	SNP	1.000	A
HIBCH	26275	genome.wustl.edu	37	2	191077701	191077701	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr2:191077701C>T	ENST00000359678.5	-	12	1286	c.992G>A	c.(991-993)cGg>cAg	p.R331Q	HIBCH_ENST00000486981.1_5'UTR|HIBCH_ENST00000410045.1_Missense_Mutation_p.R108Q|HIBCH_ENST00000392332.3_Missense_Mutation_p.R331Q	NM_014362.3|NM_198047.2	NP_055177.2|NP_932164.1	Q6NVY1	HIBCH_HUMAN	3-hydroxyisobutyryl-CoA hydrolase	331					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|valine catabolic process (GO:0006574)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	3-hydroxyisobutyryl-CoA hydrolase activity (GO:0003860)			NS(1)|breast(2)|endometrium(1)|large_intestine(1)|lung(5)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(117;0.000586)|Epithelial(96;0.0286)|all cancers(119;0.0814)			TTGACTTAGCCGATACTCCAT	0.318																																																	0													85.0	86.0	86.0					2																	191077701		2202	4300	6502	SO:0001583	missense	0			U66669	CCDS2304.1, CCDS46475.1	2q32.3	2010-04-29	2010-04-29		ENSG00000198130	ENSG00000198130	3.1.2.4		4908	protein-coding gene	gene with protein product		610690	"""3-hydroxyisobutyryl-Coenzyme A hydrolase"""			8824301	Standard	NM_014362		Approved		uc002uru.3	Q6NVY1	OTTHUMG00000132673	ENST00000359678.5:c.992G>A	2.37:g.191077701C>T	ENSP00000352706:p.Arg331Gln		D3DPI4|Q53GA8|Q53GF2|Q53RF7|Q53TC6|Q92931|Q9BS94	Missense_Mutation	SNP	pfam_Crotonase_core_superfam	p.R331Q	ENST00000359678.5	37	c.992	CCDS2304.1	2	.	.	.	.	.	.	.	.	.	.	C	19.42	3.824479	0.71143	.	.	ENSG00000198130	ENST00000392332;ENST00000359678;ENST00000410045;ENST00000416732;ENST00000409820	T;T;T;T;T	0.76186	-0.67;-0.67;-1.0;-1.0;-1.0	5.0	3.21	0.36854	.	0.167565	0.51477	N	0.000093	D	0.83691	0.5309	M	0.77486	2.375	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.82782	-0.0287	10	0.56958	D	0.05	-7.4197	9.1023	0.36676	0.0:0.8223:0.0:0.1777	.	331;331	Q6NVY1-2;Q6NVY1	.;HIBCH_HUMAN	Q	331;331;108;82;111	ENSP00000376144:R331Q;ENSP00000352706:R331Q;ENSP00000386274:R108Q;ENSP00000399263:R82Q;ENSP00000387098:R111Q	ENSP00000352706:R331Q	R	-	2	0	HIBCH	190785946	1.000000	0.71417	0.721000	0.30653	0.985000	0.73830	3.216000	0.51176	0.707000	0.31934	0.557000	0.71058	CGG	HIBCH	-	NULL	ENSG00000198130		0.318	HIBCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIBCH	HGNC	protein_coding	OTTHUMT00000255933.1	-	0.00	31	0	C			191077701	-1	tier1	-	no_errors	ENST00000359678	ensembl	human	known	74_37	missense	60.00	14	21	SNP	0.889	T
HIF1A	3091	genome.wustl.edu	37	14	62193491	62193491	+	Silent	SNP	A	A	G			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr14:62193491A>G	ENST00000337138.4	+	5	790	c.525A>G	c.(523-525)ctA>ctG	p.L175L	HIF1A_ENST00000539097.1_Silent_p.L199L|HIF1A_ENST00000557206.1_3'UTR|HIF1A_ENST00000394997.1_Silent_p.L176L|HIF1A_ENST00000557538.1_Silent_p.L116L|HIF1A_ENST00000323441.6_Silent_p.L175L|HIF1A-AS2_ENST00000554254.1_lincRNA	NM_001530.3	NP_001521.1	Q16665	HIF1A_HUMAN	hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)	175	Interaction with TSGA10. {ECO:0000250}.				angiogenesis (GO:0001525)|axon transport of mitochondrion (GO:0019896)|B-1 B cell homeostasis (GO:0001922)|cardiac ventricle morphogenesis (GO:0003208)|cartilage development (GO:0051216)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cerebral cortex development (GO:0021987)|collagen metabolic process (GO:0032963)|connective tissue replacement involved in inflammatory response wound healing (GO:0002248)|digestive tract morphogenesis (GO:0048546)|dopaminergic neuron differentiation (GO:0071542)|elastin metabolic process (GO:0051541)|embryonic hemopoiesis (GO:0035162)|embryonic placenta development (GO:0001892)|epithelial cell differentiation involved in mammary gland alveolus development (GO:0061030)|epithelial to mesenchymal transition (GO:0001837)|glucose homeostasis (GO:0042593)|heart looping (GO:0001947)|hemoglobin biosynthetic process (GO:0042541)|intestinal epithelial cell maturation (GO:0060574)|lactate metabolic process (GO:0006089)|lactation (GO:0007595)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of bone mineralization (GO:0030502)|negative regulation of growth (GO:0045926)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of thymocyte apoptotic process (GO:0070244)|negative regulation of TOR signaling (GO:0032007)|neural crest cell migration (GO:0001755)|neural fold elevation formation (GO:0021502)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|oxygen homeostasis (GO:0032364)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine production (GO:0032722)|positive regulation of chemokine-mediated signaling pathway (GO:0070101)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of glycolytic process (GO:0045821)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of gene expression (GO:0010468)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|regulation of transcription, DNA-templated (GO:0006355)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to muscle activity (GO:0014850)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|vascular endothelial growth factor production (GO:0010573)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|Hsp90 protein binding (GO:0051879)|nuclear hormone receptor binding (GO:0035257)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|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 distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)	p.L175L(1)		breast(2)|endometrium(8)|kidney(6)|large_intestine(3)|lung(4)	23				OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)	Carvedilol(DB01136)	AGTGTACCCTAACTAGCCGAG	0.328																																																	1	Substitution - coding silent(1)	endometrium(1)											86.0	83.0	84.0					14																	62193491		2203	4300	6503	SO:0001819	synonymous_variant	0			U22431	CCDS9753.1, CCDS9754.1, CCDS58324.1	14q23.2	2013-05-21	2008-12-02		ENSG00000100644	ENSG00000100644		"""Basic helix-loop-helix proteins"""	4910	protein-coding gene	gene with protein product		603348				8786149, 9079689	Standard	NM_001530		Approved	MOP1, HIF-1alpha, PASD8, HIF1, bHLHe78	uc001xfq.2	Q16665	OTTHUMG00000140344	ENST00000337138.4:c.525A>G	14.37:g.62193491A>G			C0LZJ3|Q53XP6|Q96PT9|Q9UPB1	Silent	SNP	pfam_PAS_fold_3,pfam_HIF-1_TAD_C,pfam_HIF_alpha_subunit,pfam_PAS_fold,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,prints_HIF-1_alpha,pfscan_PAS,pfscan_bHLH_dom,tigrfam_PAS	p.L199	ENST00000337138.4	37	c.597	CCDS9753.1	14																																																																																			HIF1A	-	superfamily_PAS	ENSG00000100644		0.328	HIF1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	HIF1A	HGNC	protein_coding	OTTHUMT00000276977.2		0.00	43	0	A	NM_001530		62193491	+1			no_errors	ENST00000539097	ensembl	human	known	74_37	silent	6.06	31	2	SNP	0.971	G
HIST1H4E	8367	genome.wustl.edu	37	6	26205150	26205150	+	Missense_Mutation	SNP	G	G	C			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr6:26205150G>C	ENST00000360441.4	+	1	293	c.278G>C	c.(277-279)aGa>aCa	p.R93T		NM_003545.3	NP_003536.1	P62805	H4_HUMAN	histone cluster 1, H4e	93					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)	p.R93T(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	18		all_hematologic(11;0.196)				GCGCTGAAGAGACAGGGACGC	0.537																																																	1	Substitution - Missense(1)	lung(1)											129.0	111.0	117.0					6																	26205150		2203	4300	6503	SO:0001583	missense	0			Z80787	CCDS4593.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000198518	ENSG00000276966		"""Histones / Replication-dependent"""	4790	protein-coding gene	gene with protein product		602830	"""H4 histone family, member J"", ""histone 1, H4e"""	H4FJ		9119399, 12408966	Standard	NM_003545		Approved	H4/j	uc003ngy.3	P62805	OTTHUMG00000014441	ENST00000360441.4:c.278G>C	6.37:g.26205150G>C	ENSP00000353624:p.Arg93Thr		A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4	p.R93T	ENST00000360441.4	37	c.278	CCDS4593.1	6	.	.	.	.	.	.	.	.	.	.	.	15.29	2.790267	0.50102	.	.	ENSG00000198518	ENST00000360441	T	0.68624	-0.34	2.2	2.2	0.27929	.	0.000000	0.85682	U	0.000000	T	0.68016	0.2955	.	.	.	0.48632	D	0.999683	.	.	.	.	.	.	T	0.73783	-0.3874	7	0.72032	D	0.01	.	12.403	0.55424	0.0:0.0:1.0:0.0	.	.	.	.	T	93	ENSP00000353624:R93T	ENSP00000353624:R93T	R	+	2	0	HIST1H4E	26313129	1.000000	0.71417	0.692000	0.30179	0.004000	0.04260	9.201000	0.95017	1.521000	0.48983	0.655000	0.94253	AGA	HIST1H4E	-	pfam_Histone_core_D,superfamily_Histone-fold,smart_TAF_TATA-bd,prints_Histone_H4	ENSG00000198518		0.537	HIST1H4E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H4E	HGNC	protein_coding	OTTHUMT00000040104.1	-	0.00	69	0	G	NM_003545		26205150	+1	tier1	-	no_errors	ENST00000360441	ensembl	human	known	74_37	missense	21.51	73	20	SNP	1.000	C
HRG	3273	genome.wustl.edu	37	3	186387733	186387733	+	Missense_Mutation	SNP	G	G	C	rs374953969		TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr3:186387733G>C	ENST00000232003.4	+	3	387	c.307G>C	c.(307-309)Gga>Cga	p.G103R		NM_000412.2	NP_000403.1	P04196	HRG_HUMAN	histidine-rich glycoprotein	103	Cystatin 1.		G -> E (in THPH11; HRG Tokushima 1; results in increased intracellular degradation and reduced protein secretion). {ECO:0000269|PubMed:9414276}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|chemotaxis (GO:0006935)|defense response to fungus (GO:0050832)|fibrinolysis (GO:0042730)|heme export (GO:0097037)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel remodeling (GO:2000504)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of immune response to tumor cell (GO:0002839)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of platelet activation (GO:0010543)|regulation of protein complex assembly (GO:0043254)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|response to organic cyclic compound (GO:0014070)	blood microparticle (GO:0072562)|endolysosome (GO:0036019)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|phagolysosome membrane (GO:0061474)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|heme binding (GO:0020037)|heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)|immunoglobulin binding (GO:0019865)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)	p.G103*(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		ACAGGTGATCGGACAATGTAA	0.433																																																	1	Substitution - Nonsense(1)	lung(1)											140.0	120.0	127.0					3																	186387733		2203	4300	6503	SO:0001583	missense	0				CCDS3280.1	3q27	2008-07-18			ENSG00000113905	ENSG00000113905			5181	protein-coding gene	gene with protein product	"""histidine-proline rich glycoprotein"", ""thrombophilia due to elevated HRG"""	142640				1678514	Standard	NM_000412		Approved	HRGP, HPRG	uc003fqq.3	P04196	OTTHUMG00000156578	ENST00000232003.4:c.307G>C	3.37:g.186387733G>C	ENSP00000232003:p.Gly103Arg		B9EK35|D3DNU7	Missense_Mutation	SNP	pfam_Prot_inh_cystat,smart_Prot_inh_cystat	p.G103R	ENST00000232003.4	37	c.307	CCDS3280.1	3	.	.	.	.	.	.	.	.	.	.	G	20.2	3.951541	0.73787	.	.	ENSG00000113905	ENST00000232003	T	0.14022	2.54	5.19	5.19	0.71726	Proteinase inhibitor I25, cystatin (2);	0.130715	0.34986	N	0.003534	T	0.46054	0.1373	M	0.91090	3.175	0.39821	D	0.97283	D	0.89917	1.0	D	0.97110	1.0	T	0.58132	-0.7690	10	0.87932	D	0	-11.7388	14.5776	0.68262	0.0:0.0:1.0:0.0	.	103	P04196	HRG_HUMAN	R	103	ENSP00000232003:G103R	ENSP00000232003:G103R	G	+	1	0	HRG	187870427	1.000000	0.71417	0.998000	0.56505	0.905000	0.53344	4.725000	0.61979	2.581000	0.87130	0.655000	0.94253	GGA	HRG	-	pfam_Prot_inh_cystat,smart_Prot_inh_cystat	ENSG00000113905		0.433	HRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRG	HGNC	protein_coding	OTTHUMT00000344655.1	-	0.00	52	0	G	NM_000412		186387733	+1	tier1	-	no_errors	ENST00000232003	ensembl	human	known	74_37	missense	43.24	21	16	SNP	1.000	C
HTRA3	94031	genome.wustl.edu	37	4	8271836	8271836	+	Silent	SNP	C	C	T			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr4:8271836C>T	ENST00000307358.2	+	1	345	c.141C>T	c.(139-141)ctC>ctT	p.L47L	HTRA3_ENST00000382512.3_Silent_p.L47L	NM_053044.3	NP_444272.1	P83110	HTRA3_HUMAN	HtrA serine peptidase 3	47	IGFBP N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00653}.				negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)	endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|prostate(1)|urinary_tract(1)	18						TGCCCGACCTCTGCAACTGCT	0.766																																																	0													6.0	6.0	6.0					4																	8271836		1614	3341	4955	SO:0001819	synonymous_variant	0			AY040094	CCDS3400.1, CCDS75105.1	4p16.1	2008-02-05			ENSG00000170801	ENSG00000170801			30406	protein-coding gene	gene with protein product	"""pregnancy-related serine protease"""	608785				12513693, 14500695	Standard	XM_005248040		Approved	Tasp, Prsp	uc003gla.3	P83110	OTTHUMG00000090561	ENST00000307358.2:c.141C>T	4.37:g.8271836C>T			Q7Z7A2	Silent	SNP	pfam_Peptidase_S1,pfam_Kazal_dom,pfam_PDZ,superfamily_Trypsin-like_Pept_dom,superfamily_PDZ,smart_IGFBP-like,smart_Kazal_dom,smart_PDZ,pfscan_PDZ,prints_Peptidase_S1C	p.L47	ENST00000307358.2	37	c.141	CCDS3400.1	4																																																																																			HTRA3	-	smart_IGFBP-like	ENSG00000170801		0.766	HTRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTRA3	HGNC	protein_coding	OTTHUMT00000092669.1	-	0.00	8	0	C	NM_053044		8271836	+1	tier1	-	no_errors	ENST00000307358	ensembl	human	known	74_37	silent	100.00	0	5	SNP	1.000	T
ICA1	3382	genome.wustl.edu	37	7	8196568	8196585	+	Intron	DEL	AAAAAAAAAAAAAAAAAG	AAAAAAAAAAAAAAAAAG	-	rs544087808|rs139248933|rs73674890|rs73674888|rs73674889|rs556173262|rs398003586|rs147272214|rs201360539|rs200840693|rs80159917|rs71014766|rs138383936	byFrequency	TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	AAAAAAAAAAAAAAAAAG	AAAAAAAAAAAAAAAAAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr7:8196568_8196585delAAAAAAAAAAAAAAAAAG	ENST00000402384.3	-	8	1071				AC007009.2_ENST00000577980.1_RNA|ICA1_ENST00000265577.7_Intron|ICA1_ENST00000407906.1_In_Frame_Del_p.SFFFFF322del|ICA1_ENST00000406470.2_Intron|ICA1_ENST00000422063.2_Intron|ICA1_ENST00000401396.1_Intron|ICA1_ENST00000396675.3_Intron			Q05084	ICA69_HUMAN	islet cell autoantigen 1, 69kDa						neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|secretory granule membrane (GO:0030667)|synaptic vesicle membrane (GO:0030672)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		GTaaaaaaaaaaaaaaaaaaaaaaaaagaaagaaagaa	0.372														4952	0.988818	0.9826	0.9986	5008	,	,		16820	0.999		0.9851	False		,,,				2504	0.9836																0																																										SO:0001627	intron_variant	0				CCDS34602.1, CCDS64595.1	7p22	2006-12-13	2002-08-29		ENSG00000003147	ENSG00000003147			5343	protein-coding gene	gene with protein product		147625	"""islet cell autoantigen 1 (69kD)"""			7918678, 8777998	Standard	NM_001276478		Approved	ICAp69	uc003srm.3	Q05084	OTTHUMG00000152008	ENST00000402384.3:c.804+160CTTTTTTTTTTTTTTTTT>-	7.37:g.8196568_8196585delAAAAAAAAAAAAAAAAAG			A8K7U1|B3FTQ2|P78506|Q13824|Q96HG3	In_Frame_Del	DEL	pfam_AH_dom,pfscan_AH_dom	p.SFFFFF322in_frame_del	ENST00000402384.3	37	c.982_965	CCDS34602.1	7																																																																																			ICA1	-	NULL	ENSG00000003147		0.372	ICA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ICA1	HGNC	protein_coding	OTTHUMT00000324793.1		0.00	34	0	AAAAAAAAAAAAAAAAAG	NM_004968		8196585	-1			no_errors	ENST00000407906	ensembl	human	putative	74_37	in_frame_del	22.50	31	9	DEL	0.013:0.018:0.022:0.026:0.029:0.033:0.021:0.016:0.011:0.005:0.002:0.000:0.000:0.000:0.001:0.001:0.001:0.001	0
ICAM5	7087	genome.wustl.edu	37	19	10404937	10404937	+	Missense_Mutation	SNP	T	T	C			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr19:10404937T>C	ENST00000221980.4	+	8	1996	c.1933T>C	c.(1933-1935)Tgc>Cgc	p.C645R		NM_003259.3	NP_003250.3	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5, telencephalin	645	Ig-like C2-type 7.				phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			TATCTACGTCTGCAACGCCAC	0.692																																																	0													92.0	109.0	103.0					19																	10404937		2201	4300	6501	SO:0001583	missense	0			U72671	CCDS12233.1	19p13.2	2013-01-14				ENSG00000105376		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5348	protein-coding gene	gene with protein product	"""telencephalin"""	601852		TLCN		8995416, 9828136	Standard	NM_003259		Approved	TLN	uc002mnu.4	Q9UMF0		ENST00000221980.4:c.1933T>C	19.37:g.10404937T>C	ENSP00000221980:p.Cys645Arg		Q9Y6F3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_ICAM_N,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom,prints_ICAM_VCAM_N,prints_ICAM	p.C645R	ENST00000221980.4	37	c.1933	CCDS12233.1	19	.	.	.	.	.	.	.	.	.	.	T	13.27	2.186153	0.38609	.	.	ENSG00000105376	ENST00000221980	D	0.81499	-1.5	5.21	5.21	0.72293	Immunoglobulin-like fold (1);	0.363262	0.23916	N	0.043300	D	0.84705	0.5531	M	0.83774	2.66	0.80722	D	1	P	0.44578	0.838	P	0.47470	0.548	D	0.86881	0.2042	10	0.87932	D	0	-18.9982	11.4757	0.50297	0.0:0.0:0.0:1.0	.	645	Q9UMF0	ICAM5_HUMAN	R	645	ENSP00000221980:C645R	ENSP00000221980:C645R	C	+	1	0	ICAM5	10265937	0.985000	0.35326	0.989000	0.46669	0.033000	0.12548	1.733000	0.38156	1.968000	0.57251	0.448000	0.29417	TGC	ICAM5	-	smart_Ig_sub	ENSG00000105376		0.692	ICAM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ICAM5	HGNC	protein_coding	OTTHUMT00000451217.1	-	0.00	66	0	T	NM_003259		10404937	+1	tier1	-	no_errors	ENST00000221980	ensembl	human	known	74_37	missense	6.35	59	4	SNP	0.997	C
IFNA2	3440	genome.wustl.edu	37	9	21384796	21384796	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr9:21384796G>A	ENST00000380206.2	-	1	600	c.533C>T	c.(532-534)aCa>aTa	p.T178I		NM_000605.3	NP_000596.2	P01563	IFNA2_HUMAN	interferon, alpha 2	178					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of gene expression (GO:0010629)|negative regulation of interleukin-13 secretion (GO:2000666)|negative regulation of interleukin-5 secretion (GO:2000663)|negative regulation of T cell differentiation (GO:0045581)|negative regulation of T-helper 2 cell cytokine production (GO:2000552)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral entry into host cell (GO:0046597)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	type I interferon receptor binding (GO:0005132)			breast(2)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)	13				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0173)		TTGCAAGTTTGTTGACAAAGA	0.378																																																	0													164.0	165.0	164.0					9																	21384796		2203	4300	6503	SO:0001583	missense	0				CCDS6506.1	9p22	2010-08-24			ENSG00000188379	ENSG00000188379		"""Interferons"""	5423	protein-coding gene	gene with protein product	"""alpha-2a interferon"", ""interferon alpha 2b"", ""interferon alpha A"""	147562				1385305	Standard	NM_000605		Approved	IFNA, IFN-alphaA	uc003zpb.3	P01563	OTTHUMG00000019674	ENST00000380206.2:c.533C>T	9.37:g.21384796G>A	ENSP00000369554:p.Thr178Ile		H2DF54|H2DF55|P01564|Q14606|Q6DJX8|Q96KI6	Missense_Mutation	SNP	pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta	p.T178I	ENST00000380206.2	37	c.533	CCDS6506.1	9	.	.	.	.	.	.	.	.	.	.	G	7.738	0.700763	0.15172	.	.	ENSG00000188379	ENST00000380206	T	0.03663	3.85	3.16	0.0799	0.14418	.	1.261530	0.05343	N	0.530527	T	0.04861	0.0131	L	0.53249	1.67	0.09310	N	1	B	0.15719	0.014	B	0.24974	0.057	T	0.48490	-0.9031	10	0.52906	T	0.07	.	0.5021	0.00581	0.2563:0.194:0.3523:0.1973	.	178	Q6DJX8	.	I	178	ENSP00000369554:T178I	ENSP00000369554:T178I	T	-	2	0	IFNA2	21374796	0.000000	0.05858	0.000000	0.03702	0.134000	0.20937	-0.367000	0.07553	-0.219000	0.10003	0.484000	0.47621	ACA	IFNA2	-	pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core	ENSG00000188379		0.378	IFNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFNA2	HGNC	protein_coding	OTTHUMT00000051903.1		0.00	115	0	G	NM_000605		21384796	-1			no_errors	ENST00000380206	ensembl	human	known	74_37	missense	6.67	55	4	SNP	0.000	A
IFT88	8100	genome.wustl.edu	37	13	21157104	21157104	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr13:21157104G>T	ENST00000319980.6	+	5	453	c.126G>T	c.(124-126)gaG>gaT	p.E42D	IFT88_ENST00000537103.1_Missense_Mutation_p.E33D|IFT88_ENST00000351808.5_Missense_Mutation_p.E33D|IFT88_ENST00000382778.4_Missense_Mutation_p.E42D	NM_175605.3	NP_783195.2	Q13099	IFT88_HUMAN	intraflagellar transport 88	42					anterior/posterior pattern specification (GO:0009952)|cardiac muscle cell differentiation (GO:0055007)|cardiac septum morphogenesis (GO:0060411)|cilium morphogenesis (GO:0060271)|cochlea development (GO:0090102)|cytoplasmic microtubule organization (GO:0031122)|determination of left/right symmetry (GO:0007368)|embryonic digit morphogenesis (GO:0042733)|epidermal stem cell homeostasis (GO:0036334)|epidermis development (GO:0008544)|epithelial cell morphogenesis (GO:0003382)|eye development (GO:0001654)|forebrain morphogenesis (GO:0048853)|heart formation (GO:0060914)|inner ear receptor stereocilium organization (GO:0060122)|kidney development (GO:0001822)|liver development (GO:0001889)|lung vasculature development (GO:0060426)|negative regulation of epithelial cell proliferation (GO:0050680)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|pancreas development (GO:0031016)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|protein localization (GO:0008104)|regulation of autophagic vacuole assembly (GO:2000785)|regulation of cilium assembly (GO:1902017)|regulation of fat cell differentiation (GO:0045598)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|regulation of protein processing (GO:0070613)|regulation of smoothened signaling pathway (GO:0008589)|response to fluid shear stress (GO:0034405)|smoothened signaling pathway (GO:0007224)|sperm axoneme assembly (GO:0007288)|spermatid nucleus elongation (GO:0007290)|spinal cord dorsal/ventral patterning (GO:0021513)|telencephalon development (GO:0021537)	acrosomal membrane (GO:0002080)|apical part of cell (GO:0045177)|axonemal basal plate (GO:0097541)|centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary base (GO:0097546)|ciliary tip (GO:0097542)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|kinocilium (GO:0060091)|motile cilium (GO:0031514)|motile primary cilium (GO:0031512)|photoreceptor connecting cilium (GO:0032391)				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	27		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)		AGGAATTGGAGAATGATGCAG	0.343																																																	0													114.0	117.0	116.0					13																	21157104		2203	4300	6503	SO:0001583	missense	0			AK058172	CCDS31944.1, CCDS31945.1	13q12.1	2014-07-03	2014-07-03	2005-11-02	ENSG00000032742	ENSG00000032742		"""Intraflagellar transport homologs"", ""Tetratricopeptide (TTC) repeat domain containing"""	20606	protein-coding gene	gene with protein product	"""polaris homolog"""	600595	"""tetratricopeptide repeat domain 10"", ""intraflagellar transport 88 homolog (Chlamydomonas)"""	TTC10		7633404	Standard	XM_005266546		Approved	hTg737, Tg737, D13S1056E, MGC26259	uc001uni.3	Q13099	OTTHUMG00000016517	ENST00000319980.6:c.126G>T	13.37:g.21157104G>T	ENSP00000323580:p.Glu42Asp		A2A491|B4DUS2|Q5SZJ6|Q8N719	Missense_Mutation	SNP	pfam_TPR_1,pfam_TPR_2,pfam_OMP_IML2_mit/TPR_39,smart_TPR_repeat,smart_Sel1-like,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E42D	ENST00000319980.6	37	c.126	CCDS31944.1	13	.	.	.	.	.	.	.	.	.	.	G	14.97	2.695327	0.48202	.	.	ENSG00000032742	ENST00000382778;ENST00000351808;ENST00000319980;ENST00000537103;ENST00000540318;ENST00000389373	T;T;T;T	0.34472	1.44;1.46;1.46;1.36	5.08	0.235	0.15431	.	0.110769	0.64402	D	0.000011	T	0.31888	0.0811	N	0.13098	0.295	0.39750	D	0.971871	B;P	0.52842	0.008;0.956	B;D	0.65010	0.005;0.931	T	0.08889	-1.0700	10	0.15952	T	0.53	-19.5047	8.7523	0.34622	0.5197:0.0:0.4803:0.0	.	33;42	F5H6C2;Q13099	.;IFT88_HUMAN	D	42;33;42;33;33;33	ENSP00000372228:E42D;ENSP00000261632:E33D;ENSP00000323580:E42D;ENSP00000437719:E33D	ENSP00000323580:E42D	E	+	3	2	IFT88	20055104	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	0.799000	0.27028	0.015000	0.14971	0.655000	0.94253	GAG	IFT88	-	NULL	ENSG00000032742		0.343	IFT88-002	KNOWN	basic|CCDS	protein_coding	IFT88	HGNC	protein_coding	OTTHUMT00000044075.3	-	0.00	50	0	G	NM_006531		21157104	+1	tier1	-	no_errors	ENST00000319980	ensembl	human	known	74_37	missense	6.67	56	4	SNP	0.994	T
IGHV1OR21-1	390530	genome.wustl.edu	37	21	10862950	10862950	+	RNA	SNP	G	G	T	rs376657635		TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr21:10862950G>T	ENST00000559480.1	+	0	246							A6NJS3	IV1U1_HUMAN	immunoglobulin heavy variable 1/OR21-1 (non-functional)							extracellular region (GO:0005576)				breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1)	26						ATGCACAGAAGTTCCAGGCCA	0.537																																																	0													314.0	308.0	310.0					21																	10862950		2185	4278	6463			0					21p11.2	2014-05-06	2010-11-09		ENSG00000169861	ENSG00000277282		"""Immunoglobulins / IGH orphons"""	38040	other	immunoglobulin gene			"""immunoglobulin heavy variable 1/OR21-1 pseudogene"""				Standard	NG_011680		Approved	IGHV1/OR21-1		A6NJS3	OTTHUMG00000188295		21.37:g.10862950G>T				Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.K82N	ENST00000559480.1	37	c.246		21																																																																																			IGHV1OR21-1	-	pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	ENSG00000169861		0.537	IGHV1OR21-1-201	KNOWN	basic|appris_principal	IG_V_gene	IGHV1OR21-1	HGNC	IG_V_gene		-	0.00	235	0	G	NG_011680		10862950	+1	tier1	-	no_errors	ENST00000559480	ensembl	human	known	74_37	missense	51.95	111	120	SNP	0.003	T
IGSF3	3321	genome.wustl.edu	37	1	117122285	117122286	+	In_Frame_Ins	INS	-	-	TCC	rs576658823|rs367941869|rs151042895|rs114915440	byFrequency	TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr1:117122285_117122286insTCC	ENST00000369486.3	-	10	3827_3828	c.3062_3063insGGA	c.(3061-3063)gac>gaGGAc	p.1020_1021insE	IGSF3_ENST00000318837.6_In_Frame_Ins_p.1040_1041insE|IGSF3_ENST00000369483.1_In_Frame_Ins_p.1040_1041insE	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	1020	Ig-like C2-type 8.		D -> E (in dbSNP:rs647711). {ECO:0000269|PubMed:9790749}.		lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)		p.D1041D(1)|p.D1021D(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		cgtcgtcgtcgtcgtcctcctc	0.634														1230	0.245607	0.1528	0.3069	5008	,	,		17681	0.1022		0.4284	False		,,,				2504	0.2873																2	Substitution - coding silent(2)	prostate(2)																																								SO:0001652	inframe_insertion	0			AF031174	CCDS30813.1, CCDS30814.1	1p13	2013-01-29			ENSG00000143061	ENSG00000143061		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5950	protein-coding gene	gene with protein product		603491				9790749	Standard	NM_001007237		Approved	V8, EWI-3, MGC117164	uc031pnr.1	O75054	OTTHUMG00000022751	ENST00000369486.3:c.3062_3063insGGA	1.37:g.117122285_117122286insTCC	ENSP00000358498:p.Asp1020_Asp1021insGlu		A6NJZ6|A6NMC7	In_Frame_Ins	INS	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.1041in_frame_insE	ENST00000369486.3	37	c.3123_3122	CCDS30813.1	1																																																																																			IGSF3	-	smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000143061		0.634	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	IGSF3	HGNC	protein_coding	OTTHUMT00000059040.1		0.00	18	0	-	NM_001542		117122286	-1	tier1		no_errors	ENST00000318837	ensembl	human	known	74_37	in_frame_ins	32.14	19	9	INS	0.040:0.030	TCC
IL17RE	132014	genome.wustl.edu	37	3	9948460	9948460	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr3:9948460C>T	ENST00000383814.3	+	5	542	c.437C>T	c.(436-438)tCc>tTc	p.S146F	IL17RE_ENST00000295980.3_Missense_Mutation_p.S146F|IL17RE_ENST00000454190.2_Missense_Mutation_p.S146F|IL17RE_ENST00000421412.1_Missense_Mutation_p.S179F	NM_153480.1	NP_705613.1	Q8NFR9	I17RE_HUMAN	interleukin 17 receptor E	146					inflammatory response (GO:0006954)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S146F(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(11)|skin(1)	21				OV - Ovarian serous cystadenocarcinoma(96;5.34e-64)		CCAGACATCTCCCACAAGGGA	0.547																																																	1	Substitution - Missense(1)	skin(1)											143.0	141.0	142.0					3																	9948460		2203	4300	6503	SO:0001583	missense	0			AF458069	CCDS2589.1, CCDS54552.1	3p25.3	2008-02-05			ENSG00000163701	ENSG00000163701		"""Interleukins and interleukin receptors"""	18439	protein-coding gene	gene with protein product		614995					Standard	NM_153480		Approved	FLJ23658	uc003btu.3	Q8NFR9	OTTHUMG00000128649	ENST00000383814.3:c.437C>T	3.37:g.9948460C>T	ENSP00000373325:p.Ser146Phe		B2RB34|B2RNR1|B9EH65|Q6P532|Q8N8H7|Q8N8H8|Q8TEC2	Missense_Mutation	SNP	pfam_SEFIR	p.S179F	ENST00000383814.3	37	c.536	CCDS2589.1	3	.	.	.	.	.	.	.	.	.	.	C	16.44	3.122792	0.56613	.	.	ENSG00000163701	ENST00000421412;ENST00000295980;ENST00000383814;ENST00000454190;ENST00000454992;ENST00000441648	T;T;T;T;T	0.19394	2.15;2.15;2.15;2.15;2.15	5.52	2.75	0.32379	.	0.567605	0.17197	N	0.183282	T	0.29652	0.0740	L	0.58101	1.795	0.09310	N	1	D;B;P	0.59767	0.986;0.002;0.924	P;B;B	0.54100	0.742;0.007;0.34	T	0.09185	-1.0686	10	0.59425	D	0.04	-5.4086	6.7406	0.23433	0.0:0.6959:0.1449:0.1592	.	146;146;146	Q8NFR9-3;Q8NFR9-5;Q8NFR9	.;.;I17RE_HUMAN	F	179;146;146;146;106;29	ENSP00000404916:S179F;ENSP00000295980:S146F;ENSP00000373325:S146F;ENSP00000388086:S146F;ENSP00000400768:S106F	ENSP00000295980:S146F	S	+	2	0	IL17RE	9923460	0.000000	0.05858	0.001000	0.08648	0.879000	0.50718	0.716000	0.25836	0.281000	0.22233	0.655000	0.94253	TCC	IL17RE	-	NULL	ENSG00000163701		0.547	IL17RE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL17RE	HGNC	protein_coding	OTTHUMT00000250529.1		0.00	47	0	C	NM_153480		9948460	+1			no_errors	ENST00000421412	ensembl	human	known	74_37	missense	5.00	38	2	SNP	0.001	T
IPP	3652	genome.wustl.edu	37	1	46165855	46165855	+	Nonsense_Mutation	SNP	C	C	T			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr1:46165855C>T	ENST00000396478.3	-	9	1640	c.1538G>A	c.(1537-1539)tGg>tAg	p.W513*	IPP_ENST00000495072.1_5'UTR	NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	513						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	actin binding (GO:0003779)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					AACTTCAACCCACTTTTCCTG	0.393																																																	0													91.0	93.0	93.0					1																	46165855		2203	4300	6503	SO:0001587	stop_gained	0			BC032544	CCDS30702.1, CCDS44132.1	1p34-p32	2013-01-30			ENSG00000197429	ENSG00000197429		"""Kelch-like"", ""BTB/POZ domain containing"""	6108	protein-coding gene	gene with protein product	"""kelch-like family member 27"""	147485				1905535, 8432546	Standard	NM_005897		Approved	KLHL27	uc001cou.3	Q9Y573	OTTHUMG00000008004	ENST00000396478.3:c.1538G>A	1.37:g.46165855C>T	ENSP00000379739:p.Trp513*		A2A6V4|D3DQ11|Q8N5C3	Nonsense_Mutation	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.W513*	ENST00000396478.3	37	c.1538	CCDS30702.1	1	.	.	.	.	.	.	.	.	.	.	C	37	6.388899	0.97529	.	.	ENSG00000197429	ENST00000359942;ENST00000396478	.	.	.	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.9946	0.97381	0.0:1.0:0.0:0.0	.	.	.	.	X	513	.	ENSP00000353024:W513X	W	-	2	0	IPP	45938442	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.212000	0.77941	2.728000	0.93425	0.591000	0.81541	TGG	IPP	-	pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin	ENSG00000197429		0.393	IPP-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	IPP	HGNC	protein_coding	OTTHUMT00000021974.3	-	0.00	29	0	C	NM_005897		46165855	-1	tier1	-	no_errors	ENST00000396478	ensembl	human	known	74_37	nonsense	58.06	13	18	SNP	1.000	T
ITGA8	8516	genome.wustl.edu	37	10	15760810	15760810	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr10:15760810C>T	ENST00000378076.3	-	2	651	c.298G>A	c.(298-300)Gcg>Acg	p.A100T		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	100					brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						GACCCCTCCGCGGGCCAAGGA	0.587																																																	0													120.0	107.0	112.0					10																	15760810		2203	4300	6503	SO:0001583	missense	0			L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"""Integrins"""	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.298G>A	10.37:g.15760810C>T	ENSP00000367316:p.Ala100Thr		B0YJ31|Q5VX94	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.A100T	ENST00000378076.3	37	c.298	CCDS31155.1	10	.	.	.	.	.	.	.	.	.	.	C	15.12	2.739921	0.49045	.	.	ENSG00000077943	ENST00000378076;ENST00000538044	T	0.55930	0.49	4.79	2.86	0.33363	.	0.235578	0.42420	D	0.000713	T	0.29288	0.0729	L	0.27944	0.81	0.09310	N	1	P;P	0.46784	0.884;0.816	B;B	0.33521	0.165;0.079	T	0.28004	-1.0057	10	0.08179	T	0.78	.	11.5979	0.50984	0.1393:0.7266:0.1341:0.0	.	100;100	F5H818;P53708	.;ITA8_HUMAN	T	100	ENSP00000367316:A100T	ENSP00000367316:A100T	A	-	1	0	ITGA8	15800816	0.385000	0.25172	0.001000	0.08648	0.977000	0.68977	2.254000	0.43214	0.569000	0.29329	0.561000	0.74099	GCG	ITGA8	-	smart_Int_alpha_beta-p	ENSG00000077943		0.587	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA8	HGNC	protein_coding	OTTHUMT00000046987.1	-	0.00	46	0	C	NM_003638		15760810	-1	tier1	-	no_errors	ENST00000378076	ensembl	human	known	74_37	missense	27.54	50	19	SNP	0.051	T
JAKMIP2	9832	genome.wustl.edu	37	5	147012329	147012329	+	Missense_Mutation	SNP	C	C	G			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr5:147012329C>G	ENST00000265272.5	-	13	2157	c.1690G>C	c.(1690-1692)Gag>Cag	p.E564Q	JAKMIP2_ENST00000507386.1_Missense_Mutation_p.E543Q|JAKMIP2_ENST00000333010.6_Missense_Mutation_p.E522Q	NM_001270941.1|NM_014790.4	NP_001257870.1|NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	564						Golgi apparatus (GO:0005794)				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTTCTGCCTCCTGTTTTTCT	0.403																																																	0													184.0	181.0	182.0					5																	147012329		2203	4300	6503	SO:0001583	missense	0			AB011127	CCDS4285.1, CCDS59495.1, CCDS64284.1, CCDS75352.1	5q32	2009-08-13	2009-08-13		ENSG00000176049	ENSG00000176049			29067	protein-coding gene	gene with protein product		611197				9628581	Standard	NM_001270941		Approved	JAMIP2, KIAA0555	uc010jgo.2	Q96AA8	OTTHUMG00000129731	ENST00000265272.5:c.1690G>C	5.37:g.147012329C>G	ENSP00000265272:p.Glu564Gln		A4ZZA7|A8K5G5|B4DSG0|G5E9Y0|O60302|Q548S1	Missense_Mutation	SNP	NULL	p.E564Q	ENST00000265272.5	37	c.1690	CCDS4285.1	5	.	.	.	.	.	.	.	.	.	.	C	26.8	4.770651	0.90108	.	.	ENSG00000176049	ENST00000507386;ENST00000265272;ENST00000333010;ENST00000539401	T;T;T	0.28454	1.76;1.62;1.61	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.54431	0.1858	M	0.63843	1.955	0.80722	D	1	D;D;D;D	0.61080	0.989;0.989;0.989;0.989	D;D;D;D	0.70487	0.969;0.969;0.969;0.969	T	0.39901	-0.9591	10	0.37606	T	0.19	.	19.891	0.96930	0.0:1.0:0.0:0.0	.	522;564;543;564	B4DSG0;Q96AA8-3;G5E9Y0;Q96AA8	.;.;.;JKIP2_HUMAN	Q	543;564;522;543	ENSP00000421398:E543Q;ENSP00000265272:E564Q;ENSP00000328989:E522Q	ENSP00000265272:E564Q	E	-	1	0	JAKMIP2	146992522	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.493000	0.66899	2.871000	0.98454	0.655000	0.94253	GAG	JAKMIP2	-	NULL	ENSG00000176049		0.403	JAKMIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JAKMIP2	HGNC	protein_coding	OTTHUMT00000251941.1	-	0.00	83	0	C	NM_014790		147012329	-1	tier1	-	no_errors	ENST00000265272	ensembl	human	known	74_37	missense	36.84	48	28	SNP	1.000	G
KATNA1	11104	genome.wustl.edu	37	6	149919207	149919207	+	Intron	SNP	G	G	T			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr6:149919207G>T	ENST00000335647.5	-	7	1060				KATNA1_ENST00000367411.2_Intron|KATNA1_ENST00000335643.8_Intron|KATNA1_ENST00000494504.1_Intron					katanin p60 (ATPase containing) subunit A 1											endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	12		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;2.95e-12)|GBM - Glioblastoma multiforme(68;0.173)		TCACTATCAGGAACTTCTTGC	0.418																																																	0																																										SO:0001627	intron_variant	0			AF056022	CCDS5217.1, CCDS56456.1	6q24.3	2011-01-25	2011-01-25		ENSG00000186625	ENSG00000186625		"""ATPases / AAA-type"""	6216	protein-coding gene	gene with protein product		606696	"""katanin p60 (ATPase-containing) subunit A 1"""			9658175	Standard	NM_007044		Approved		uc003qms.3	O75449	OTTHUMG00000015787	ENST00000335647.5:c.1015+152C>A	6.37:g.149919207G>T				RNA	SNP	-	NULL	ENST00000335647.5	37	NULL	CCDS5217.1	6																																																																																			KATNA1	-	-	ENSG00000186625		0.418	KATNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KATNA1	HGNC	protein_coding	OTTHUMT00000042641.2	-	0.00	22	0	G	NM_007044		149919207	-1	tier1	-	no_errors	ENST00000481905	ensembl	human	known	74_37	rna	64.00	9	16	SNP	0.000	T
KIAA1211	57482	genome.wustl.edu	37	4	57180699	57180699	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr4:57180699G>A	ENST00000504228.1	+	6	1136	c.1031G>A	c.(1030-1032)cGg>cAg	p.R344Q	KIAA1211_ENST00000264229.6_Missense_Mutation_p.R344Q|KIAA1211_ENST00000541073.1_Missense_Mutation_p.R337Q			Q6ZU35	K1211_HUMAN	KIAA1211	344	Glu-rich.									endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					CTGGAGGAGCggaggcggcag	0.697																																																	0													5.0	6.0	5.0					4																	57180699		1948	3864	5812	SO:0001583	missense	0			AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.1031G>A	4.37:g.57180699G>A	ENSP00000423366:p.Arg344Gln		Q9NTE2|Q9NTP8|Q9ULK9	Missense_Mutation	SNP	NULL	p.R344Q	ENST00000504228.1	37	c.1031	CCDS43230.1	4	.	.	.	.	.	.	.	.	.	.	G	9.869	1.198513	0.22037	.	.	ENSG00000109265	ENST00000264229;ENST00000504228;ENST00000541073;ENST00000546221	T;T;T	0.01963	4.53;4.53;4.53	4.97	-1.0	0.10196	.	.	.	.	.	T	0.01092	0.0036	N	0.04508	-0.205	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.47433	-0.9118	9	0.34782	T	0.22	-0.0519	2.9311	0.05800	0.6406:0.125:0.1139:0.1205	.	337;337;344	B7ZVZ4;F5H1N7;Q6ZU35	.;.;K1211_HUMAN	Q	344;344;337;254	ENSP00000264229:R344Q;ENSP00000423366:R344Q;ENSP00000444006:R337Q	ENSP00000264229:R344Q	R	+	2	0	KIAA1211	56875456	0.000000	0.05858	0.000000	0.03702	0.184000	0.23303	-5.683000	0.00105	-0.035000	0.13691	-0.448000	0.05591	CGG	KIAA1211	-	NULL	ENSG00000109265		0.697	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1211	HGNC	protein_coding	OTTHUMT00000362097.2	-	0.00	30	0	G	NM_020722		57180699	+1	tier1	-	no_errors	ENST00000504228	ensembl	human	known	74_37	missense	42.31	15	11	SNP	0.015	A
KIAA1244	57221	genome.wustl.edu	37	6	138657565	138657565	+	Missense_Mutation	SNP	G	G	A	rs111914596		TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr6:138657565G>A	ENST00000251691.4	+	34	6642	c.6476G>A	c.(6475-6477)cGc>cAc	p.R2159H		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		ATCAGAGTTCGCCAGGCTGTG	0.572																																																	0								G	HIS/ARG	0,4406		0,0,2203	112.0	99.0	104.0		6476	6.0	1.0	6	dbSNP_132	104	1,8599	1.2+/-3.3	0,1,4299	no	missense	KIAA1244	NM_020340.4	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	2159/2178	138657565	1,13005	2203	4300	6503	SO:0001583	missense	0			AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	21213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 33"""		"""chromosome 6 open reading frame 92"""	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.6476G>A	6.37:g.138657565G>A	ENSP00000251691:p.Arg2159His			Missense_Mutation	SNP	pfam_DUF1981_Sec7_assoc,superfamily_ARM-type_fold,superfamily_Sec7_dom,smart_Sec7_dom	p.R2159H	ENST00000251691.4	37	c.6476	CCDS5189.2	6	.	.	.	.	.	.	.	.	.	.	G	37	6.015395	0.97205	0.0	1.16E-4	ENSG00000112379	ENST00000251691;ENST00000367706	T	0.54675	0.56	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.55768	0.1941	N	0.19112	0.55	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.61676	-0.7014	10	0.87932	D	0	-34.9816	20.5407	0.99260	0.0:0.0:1.0:0.0	.	2159	Q5TH69	BIG3_HUMAN	H	2159;200	ENSP00000251691:R2159H	ENSP00000251691:R2159H	R	+	2	0	KIAA1244	138699258	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.624000	0.98398	2.865000	0.98341	0.655000	0.94253	CGC	KIAA1244	-	NULL	ENSG00000112379		0.572	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KIAA1244	HGNC	protein_coding	OTTHUMT00000042425.4	-	0.00	50	0	G	NM_020340		138657565	+1	tier1	rs111914596	no_errors	ENST00000251691	ensembl	human	known	74_37	missense	54.00	23	27	SNP	1.000	A
KIAA1841	84542	genome.wustl.edu	37	2	61315638	61315639	+	Intron	INS	-	-	TA	rs377349663|rs371063167		TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr2:61315638_61315639insTA	ENST00000402291.1	+	10	1329				KIAA1841_ENST00000453873.1_Intron|KIAA1841_ENST00000295031.5_Intron|KIAA1841_ENST00000482513.1_3'UTR|KIAA1841_ENST00000356719.2_Intron	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	KIAA1841											breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			atgtatttttgtatatatatat	0.386																																																	0																																										SO:0001627	intron_variant	0			BC070104	CCDS1867.1, CCDS46296.1	2p15	2010-06-22			ENSG00000162929	ENSG00000162929			29387	protein-coding gene	gene with protein product						11347906	Standard	NM_032506		Approved		uc002saw.4	Q6NSI8	OTTHUMG00000129421	ENST00000402291.1:c.1088+35->TA	2.37:g.61315647_61315648dupTA			Q49AF0|Q6ZND0|Q96JI6	RNA	INS	-	NULL	ENST00000402291.1	37	NULL	CCDS46296.1	2																																																																																			KIAA1841	-	-	ENSG00000162929		0.386	KIAA1841-003	NOVEL	basic|appris_principal|CCDS	protein_coding	KIAA1841	HGNC	protein_coding	OTTHUMT00000325477.1		0.00	29	0	-	NM_032506		61315639	+1	tier1		no_errors	ENST00000482513	ensembl	human	known	74_37	rna	11.90	37	5	INS	0.001:0.001	TA
KLB	152831	genome.wustl.edu	37	4	39439551	39439551	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr4:39439551C>T	ENST00000257408.4	+	3	1638	c.1541C>T	c.(1540-1542)aCg>aTg	p.T514M		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	514					carbohydrate metabolic process (GO:0005975)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor binding (GO:0017134)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						AAAGAGTCCACGCCAGATGTG	0.418																																																	0													97.0	93.0	94.0					4																	39439551		2203	4300	6503	SO:0001583	missense	0			AB079373	CCDS3451.1	4p14	2008-02-05			ENSG00000134962	ENSG00000134962			15527	protein-coding gene	gene with protein product		611135					Standard	NM_175737		Approved		uc003gua.3	Q86Z14	OTTHUMG00000128577	ENST00000257408.4:c.1541C>T	4.37:g.39439551C>T	ENSP00000257408:p.Thr514Met		Q2M3K8	Missense_Mutation	SNP	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1	p.T514M	ENST00000257408.4	37	c.1541	CCDS3451.1	4	.	.	.	.	.	.	.	.	.	.	C	14.76	2.630754	0.46944	.	.	ENSG00000134962	ENST00000257408	T	0.28255	1.62	6.03	4.32	0.51571	.	0.210804	0.51477	D	0.000096	T	0.29620	0.0739	N	0.24115	0.695	0.35990	D	0.836654	D;D	0.67145	0.996;0.996	P;P	0.50490	0.642;0.548	T	0.33445	-0.9868	10	0.51188	T	0.08	-19.7687	13.2782	0.60200	0.0:0.8717:0.0:0.1283	.	514;514	B7ZL50;Q86Z14	.;KLOTB_HUMAN	M	514	ENSP00000257408:T514M	ENSP00000257408:T514M	T	+	2	0	KLB	39115946	0.836000	0.29430	0.706000	0.30403	0.334000	0.28698	1.664000	0.37439	0.897000	0.36392	-0.126000	0.14955	ACG	KLB	-	NULL	ENSG00000134962		0.418	KLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLB	HGNC	protein_coding	OTTHUMT00000250429.1		0.00	63	0	C	NM_175737		39439551	+1			no_errors	ENST00000257408	ensembl	human	known	74_37	missense	5.08	56	3	SNP	0.988	T
KLHDC3	116138	genome.wustl.edu	37	6	42986163	42986163	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr6:42986163G>A	ENST00000326974.4	+	6	797	c.602G>A	c.(601-603)cGc>cAc	p.R201H	KLHDC3_ENST00000332245.8_Missense_Mutation_p.R142H|KLHDC3_ENST00000244670.8_Missense_Mutation_p.R67H	NM_057161.3	NP_476502.1	Q9BQ90	KLDC3_HUMAN	kelch domain containing 3	201					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|reciprocal meiotic recombination (GO:0007131)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)	chromatin binding (GO:0003682)			cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9			Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CGTGCCGACCGCTTTGGGCCA	0.577																																																	0													66.0	61.0	63.0					6																	42986163		2203	4300	6503	SO:0001583	missense	0			AB055925	CCDS4880.1	6p21.1	2003-06-12			ENSG00000124702	ENSG00000124702			20704	protein-coding gene	gene with protein product		611248				12444059, 12606021	Standard	NM_057161		Approved	PEAS, hPeas, dJ20C7.3	uc003otl.3	Q9BQ90	OTTHUMG00000014714	ENST00000326974.4:c.602G>A	6.37:g.42986163G>A	ENSP00000313995:p.Arg201His		A8K2W9	Missense_Mutation	SNP	pfam_Kelch_2,pfam_Kelch_1	p.R201H	ENST00000326974.4	37	c.602	CCDS4880.1	6	.	.	.	.	.	.	.	.	.	.	G	19.68	3.873578	0.72180	.	.	ENSG00000124702	ENST00000326974;ENST00000432243;ENST00000244670;ENST00000394096;ENST00000426116;ENST00000332245	T;T;T	0.16196	3.18;2.36;3.18	5.64	4.77	0.60923	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.18718	0.0449	L	0.33485	1.01	0.80722	D	1	P;D;D;D	0.89917	0.456;1.0;1.0;1.0	B;D;D;D	0.69479	0.111;0.964;0.949;0.952	T	0.01982	-1.1235	10	0.42905	T	0.14	.	14.4033	0.67065	0.0709:0.0:0.9291:0.0	.	201;142;67;201	E7ENU0;E7ERR0;F8W6A4;Q9BQ90	.;.;.;KLDC3_HUMAN	H	201;201;67;201;174;142	ENSP00000313995:R201H;ENSP00000244670:R67H;ENSP00000331562:R142H	ENSP00000244670:R67H	R	+	2	0	KLHDC3	43094141	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.102000	0.94226	1.394000	0.46624	0.561000	0.74099	CGC	KLHDC3	-	pfam_Kelch_2,pfam_Kelch_1	ENSG00000124702		0.577	KLHDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHDC3	HGNC	protein_coding	OTTHUMT00000040570.1		0.00	39	0	G	NM_057161		42986163	+1			no_errors	ENST00000326974	ensembl	human	known	74_37	missense	5.56	50	3	SNP	1.000	A
KPNA1	3836	genome.wustl.edu	37	3	122152584	122152584	+	Missense_Mutation	SNP	C	C	A			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr3:122152584C>A	ENST00000344337.6	-	12	1350	c.1174G>T	c.(1174-1176)Gct>Tct	p.A392S	RP11-299J3.8_ENST00000609469.1_RNA|KPNA1_ENST00000466923.1_5'UTR|RP11-299J3.8_ENST00000608346.1_RNA	NM_002264.3	NP_002255.3	P52294	IMA5_HUMAN	karyopherin alpha 1 (importin alpha 5)	392	Binding to RAG1.|NLS binding site (minor). {ECO:0000250}.				apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cytokine-mediated signaling pathway (GO:0019221)|intracellular transport of virus (GO:0075733)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein import into nucleus (GO:0042307)|regulation of DNA recombination (GO:0000018)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)|protein transporter activity (GO:0008565)			NS(1)|breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	21				GBM - Glioblastoma multiforme(114;0.0898)		CGAAATTCAGCAGTTTGTAAA	0.363																																					Melanoma(12;340 801 11196 19797)												0													95.0	95.0	95.0					3																	122152584		2203	4300	6503	SO:0001583	missense	0			S75295	CCDS3013.1	3q21	2013-02-14			ENSG00000114030	ENSG00000114030		"""Importins"", ""Armadillo repeat containing"""	6394	protein-coding gene	gene with protein product		600686				8052633	Standard	NM_002264		Approved	SRP1, RCH2, NPI-1, IPOA5	uc003efe.2	P52294	OTTHUMG00000159487	ENST00000344337.6:c.1174G>T	3.37:g.122152584C>A	ENSP00000343701:p.Ala392Ser		D3DN93|Q6IBQ9|Q9BQ56	Missense_Mutation	SNP	pfam_Armadillo,pfam_Importin-a_IBB,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB	p.A392S	ENST00000344337.6	37	c.1174	CCDS3013.1	3	.	.	.	.	.	.	.	.	.	.	C	23.8	4.458938	0.84317	.	.	ENSG00000114030	ENST00000344337	T	0.27557	1.66	5.24	5.24	0.73138	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.39436	0.1078	L	0.55743	1.74	0.80722	D	1	B	0.29162	0.235	B	0.38194	0.267	T	0.28744	-1.0034	10	0.59425	D	0.04	-10.6356	17.9888	0.89162	0.0:1.0:0.0:0.0	.	392	P52294	IMA1_HUMAN	S	392	ENSP00000343701:A392S	ENSP00000343701:A392S	A	-	1	0	KPNA1	123635274	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.651000	0.83577	2.724000	0.93272	0.563000	0.77884	GCT	KPNA1	-	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo	ENSG00000114030		0.363	KPNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KPNA1	HGNC	protein_coding	OTTHUMT00000355740.1	-	0.00	87	0	C	NM_002264		122152584	-1	tier1	-	no_errors	ENST00000344337	ensembl	human	known	74_37	missense	37.25	32	19	SNP	1.000	A
KRT23	25984	genome.wustl.edu	37	17	39084536	39084536	+	Missense_Mutation	SNP	C	C	T	rs115236336	byFrequency	TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr17:39084536C>T	ENST00000209718.3	-	6	1299	c.875G>A	c.(874-876)cGc>cAc	p.R292H	AC004231.2_ENST00000418393.1_RNA|KRT23_ENST00000436344.3_Missense_Mutation_p.R155H	NM_015515.3	NP_056330.3	Q9C075	K1C23_HUMAN	keratin 23 (histone deacetylase inducible)	292	Coil 2.|Rod.					intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000301)|Ovarian(249;0.15)				CTGGAATGTGCGCTTCAGTTC	0.572													C|||	3	0.000599042	0.0023	0.0	5008	,	,		20887	0.0		0.0	False		,,,				2504	0.0																0								C	HIS/ARG	8,4398	14.3+/-33.2	0,8,2195	285.0	231.0	249.0		875	5.8	1.0	17	dbSNP_132	249	1,8599	1.2+/-3.3	0,1,4299	yes	missense	KRT23	NM_015515.3	29	0,9,6494	TT,TC,CC		0.0116,0.1816,0.0692	probably-damaging	292/423	39084536	9,12997	2203	4300	6503	SO:0001583	missense	0			AF102848	CCDS11380.1, CCDS62182.1	17q21.2	2013-01-16			ENSG00000108244	ENSG00000108244		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6438	protein-coding gene	gene with protein product		606194				11135429, 16831889	Standard	NM_015515		Approved	K23, DKFZP434G032, HAIK1, CK23, MGC26158	uc002hvm.1	Q9C075	OTTHUMG00000133376	ENST00000209718.3:c.875G>A	17.37:g.39084536C>T	ENSP00000209718:p.Arg292His		A8K084|B7Z7J2|I3L3Q6|Q9NUR6	Missense_Mutation	SNP	pfam_IF,prints_Keratin_I	p.R292H	ENST00000209718.3	37	c.875	CCDS11380.1	17	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	24.8	4.566314	0.86439	0.001816	1.16E-4	ENSG00000108244	ENST00000209718;ENST00000436344	D;D	0.90504	-2.68;-2.68	5.79	5.79	0.91817	Filament (1);	0.000000	0.51477	D	0.000096	D	0.93122	0.7810	L	0.58969	1.84	0.80722	D	1	D	0.69078	0.997	P	0.54629	0.757	D	0.93261	0.6643	10	0.72032	D	0.01	.	20.032	0.97543	0.0:1.0:0.0:0.0	.	292	Q9C075	K1C23_HUMAN	H	292;155	ENSP00000209718:R292H;ENSP00000414056:R155H	ENSP00000209718:R292H	R	-	2	0	KRT23	36338062	1.000000	0.71417	0.999000	0.59377	0.330000	0.28571	7.476000	0.81055	2.743000	0.94032	0.655000	0.94253	CGC	KRT23	-	pfam_IF	ENSG00000108244		0.572	KRT23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT23	HGNC	protein_coding	OTTHUMT00000257223.1		0.00	57	0	C			39084536	-1			no_errors	ENST00000209718	ensembl	human	known	74_37	missense	5.17	55	3	SNP	0.990	T
LARS2	23395	genome.wustl.edu	37	3	45530292	45530292	+	Silent	SNP	C	C	T			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr3:45530292C>T	ENST00000415258.1	+	11	1368	c.1227C>T	c.(1225-1227)agC>agT	p.S409S	LARS2-AS1_ENST00000442534.2_RNA|LARS2_ENST00000265537.3_Silent_p.S409S|LARS2_ENST00000414984.1_Silent_p.S366S			Q15031	SYLM_HUMAN	leucyl-tRNA synthetase 2, mitochondrial	409					gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)			endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	L-Leucine(DB00149)	AGAGACTGAGCAGCTCTGCTG	0.468																																																	0													116.0	108.0	111.0					3																	45530292		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ312685	CCDS2728.1	3p21.3	2012-10-26			ENSG00000011376	ENSG00000011376	6.1.1.4	"""Aminoacyl tRNA synthetases / Class I"""	17095	protein-coding gene	gene with protein product	"""leucine tRNA ligase 2, mitochondrial"""	604544				20194621, 15123417	Standard	NM_015340		Approved	KIAA0028, LEURS, MGC26121	uc003cop.1	Q15031	OTTHUMG00000133177	ENST00000415258.1:c.1227C>T	3.37:g.45530292C>T				Silent	SNP	pfam_aa-tRNA-synth_Ia,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_V/L/I-tRNA-synth_anticodon-bd,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Val/Leu/Ile-tRNA-synth_edit,prints_Leu-tRNA-ligase_bac/mito,tigrfam_Leu-tRNA-ligase_bac/mito	p.S409	ENST00000415258.1	37	c.1227	CCDS2728.1	3																																																																																			LARS2	-	superfamily_Val/Leu/Ile-tRNA-synth_edit,tigrfam_Leu-tRNA-ligase_bac/mito	ENSG00000011376		0.468	LARS2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LARS2	HGNC	protein_coding	OTTHUMT00000345001.1	-	0.00	81	0	C	NM_015340		45530292	+1	tier1	-	no_errors	ENST00000265537	ensembl	human	known	74_37	silent	7.69	48	4	SNP	0.015	T
LONP2	83752	genome.wustl.edu	37	16	48337147	48337147	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr16:48337147G>A	ENST00000285737.4	+	11	1819	c.1726G>A	c.(1726-1728)Gcc>Acc	p.A576T	LONP2_ENST00000535754.1_Missense_Mutation_p.A532T	NM_031490.2	NP_113678.2			lon peptidase 2, peroxisomal											breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						CCGAGCTGTGGCCGTGAAGGT	0.473																																																	0													201.0	166.0	178.0					16																	48337147		2200	4300	6500	SO:0001583	missense	0			AJ548761	CCDS10734.1, CCDS73880.1	16q12.1	2010-04-21			ENSG00000102910	ENSG00000102910		"""ATPases / AAA-type"""	20598	protein-coding gene	gene with protein product						14561759	Standard	XM_005256191		Approved	MGC4840, LONP, LONPL	uc002efi.1	Q86WA8	OTTHUMG00000133144	ENST00000285737.4:c.1726G>A	16.37:g.48337147G>A	ENSP00000285737:p.Ala576Thr			Missense_Mutation	SNP	pfam_Pept_S16_C,pfam_Pept_S16_N,pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_P-loop_NTPase,superfamily_PUA-like_domain,smart_Pept_S16_N,smart_AAA+_ATPase,tigrfam_Lon_bac/euk-typ	p.A576T	ENST00000285737.4	37	c.1726	CCDS10734.1	16	.	.	.	.	.	.	.	.	.	.	G	35	5.533996	0.96460	.	.	ENSG00000102910	ENST00000285737;ENST00000544734;ENST00000535754;ENST00000416006	T;T	0.39787	1.06;1.08	5.33	5.33	0.75918	.	0.046708	0.85682	D	0.000000	T	0.66829	0.2829	M	0.73430	2.235	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	T	0.68341	-0.5434	10	0.62326	D	0.03	-21.8836	19.2116	0.93757	0.0:0.0:1.0:0.0	.	532;576	B7ZKL7;Q86WA8	.;LONP2_HUMAN	T	576;305;532;532	ENSP00000285737:A576T;ENSP00000445426:A532T	ENSP00000285737:A576T	A	+	1	0	LONP2	46894648	1.000000	0.71417	0.942000	0.38095	0.918000	0.54935	9.412000	0.97347	2.766000	0.95052	0.655000	0.94253	GCC	LONP2	-	tigrfam_Lon_bac/euk-typ	ENSG00000102910		0.473	LONP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LONP2	HGNC	protein_coding	OTTHUMT00000256839.2	-	0.00	129	0	G	NM_031490		48337147	+1	tier1	-	no_errors	ENST00000285737	ensembl	human	known	74_37	missense	31.79	103	48	SNP	1.000	A
LPA	4018	genome.wustl.edu	37	6	160953585	160953585	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr6:160953585G>A	ENST00000316300.5	-	38	5983	c.5939C>T	c.(5938-5940)gCc>gTc	p.A1980V	LPA_ENST00000447678.1_Missense_Mutation_p.A1980V			P08519	APOA_HUMAN	lipoprotein, Lp(a)	4488	Kringle 18. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	AGTGCCTCTGGCCAAATGCTC	0.468																																																	0													79.0	81.0	80.0					6																	160953585		2156	4282	6438	SO:0001583	missense	0			X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.5939C>T	6.37:g.160953585G>A	ENSP00000321334:p.Ala1980Val		Q5VTD7|Q9UD88	Missense_Mutation	SNP	pfam_Kringle,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Kringle,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Kringle,pfscan_Peptidase_S1	p.A1980V	ENST00000316300.5	37	c.5939	CCDS43523.1	6	.	.	.	.	.	.	.	.	.	.	g	5.145	0.212399	0.09757	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	D;D	0.81579	-1.51;-1.51	1.93	-1.3	0.09259	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	T	0.45994	0.1370	L	0.33485	1.01	0.09310	N	1	B	0.32425	0.371	B	0.37692	0.256	T	0.44081	-0.9351	9	0.27082	T	0.32	.	0.1396	0.00082	0.2679:0.1644:0.2713:0.2964	.	4488	P08519	APOA_HUMAN	V	1980	ENSP00000321334:A1980V;ENSP00000395608:A1980V	ENSP00000321334:A1980V	A	-	2	0	LPA	160873575	0.001000	0.12720	0.001000	0.08648	0.059000	0.15707	0.603000	0.24149	-0.371000	0.08004	0.184000	0.17185	GCC	LPA	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000198670		0.468	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPA	HGNC	protein_coding	OTTHUMT00000042957.1	-	0.00	54	0	G	NM_005577		160953585	-1	tier1	-	no_errors	ENST00000316300	ensembl	human	known	74_37	missense	6.76	69	5	SNP	0.023	A
LRRN1	57633	genome.wustl.edu	37	3	3886722	3886722	+	Nonsense_Mutation	SNP	G	G	T	rs377314657		TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr3:3886722G>T	ENST00000319331.3	+	2	1158	c.397G>T	c.(397-399)Gag>Tag	p.E133*	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	133						integral component of membrane (GO:0016021)				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		TCAGATTACCGAGATGACTGA	0.428																																																	0													71.0	73.0	72.0					3																	3886722		2203	4300	6503	SO:0001587	stop_gained	0			AB040930	CCDS33685.1	3p26.2	2013-01-11			ENSG00000175928	ENSG00000175928		"""Immunoglobulin superfamily / I-set domain containing"""	20980	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 3"""					10819331	Standard	NM_020873		Approved	FIGLER3	uc003bpt.4	Q6UXK5	OTTHUMG00000154934	ENST00000319331.3:c.397G>T	3.37:g.3886722G>T	ENSP00000314901:p.Glu133*		Q3LID5|Q8IYV5|Q9H8V1|Q9P231	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.E133*	ENST00000319331.3	37	c.397	CCDS33685.1	3	.	.	.	.	.	.	.	.	.	.	G	42	9.778567	0.99261	.	.	ENSG00000175928	ENST00000319331	.	.	.	5.76	5.76	0.90799	.	0.048895	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	.	19.9759	0.97304	0.0:0.0:1.0:0.0	.	.	.	.	X	133	.	ENSP00000314901:E133X	E	+	1	0	LRRN1	3861722	1.000000	0.71417	0.883000	0.34634	0.807000	0.45602	9.787000	0.99055	2.713000	0.92767	0.655000	0.94253	GAG	LRRN1	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000175928		0.428	LRRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRN1	HGNC	protein_coding	OTTHUMT00000337704.2	-	0.00	48	0	G	NM_020873		3886722	+1	tier1	-	no_errors	ENST00000319331	ensembl	human	known	74_37	nonsense	11.11	32	4	SNP	1.000	T
LYN	4067	genome.wustl.edu	37	8	56879419	56879419	+	Silent	SNP	G	G	A			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr8:56879419G>A	ENST00000519728.1	+	9	1232	c.936G>A	c.(934-936)gaG>gaA	p.E312E	LYN_ENST00000520220.2_Silent_p.E291E|LYN_ENST00000420292.1_3'UTR	NM_002350.3	NP_002341.1	P07948	LYN_HUMAN	LYN proto-oncogene, Src family tyrosine kinase	312	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to extracellular stimulus (GO:0031668)|cellular response to heat (GO:0034605)|cellular response to retinoic acid (GO:0071300)|cytokine secretion (GO:0050663)|dendritic cell differentiation (GO:0097028)|erythrocyte differentiation (GO:0030218)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|Fc receptor mediated stimulatory signaling pathway (GO:0002431)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|histamine secretion by mast cell (GO:0002553)|immune response-regulating cell surface receptor signaling pathway (GO:0002768)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|leukocyte migration (GO:0050900)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of immune response (GO:0050777)|negative regulation of intracellular signal transduction (GO:1902532)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mast cell proliferation (GO:0070667)|negative regulation of myeloid leukocyte differentiation (GO:0002762)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|neuron projection development (GO:0031175)|oligodendrocyte development (GO:0014003)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060369)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of mast cell proliferation (GO:0070668)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oligodendrocyte progenitor proliferation (GO:0070447)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of stress-activated protein kinase signaling cascade (GO:0070304)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of B cell apoptotic process (GO:0002902)|regulation of B cell receptor signaling pathway (GO:0050855)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cytokine production (GO:0001817)|regulation of cytokine secretion (GO:0050707)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of erythrocyte differentiation (GO:0045646)|regulation of inflammatory response (GO:0050727)|regulation of mast cell activation (GO:0033003)|regulation of mast cell degranulation (GO:0043304)|regulation of monocyte chemotaxis (GO:0090025)|regulation of platelet aggregation (GO:0090330)|regulation of protein phosphorylation (GO:0001932)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|response to amino acid (GO:0043200)|response to axon injury (GO:0048678)|response to carbohydrate (GO:0009743)|response to drug (GO:0042493)|response to hormone (GO:0009725)|response to insulin (GO:0032868)|response to organic cyclic compound (GO:0014070)|response to sterol depletion (GO:0006991)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|T cell costimulation (GO:0031295)|tolerance induction to self antigen (GO:0002513)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integrin alpha2-beta1 complex (GO:0034666)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|mitochondrial crista (GO:0030061)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|glycosphingolipid binding (GO:0043208)|ion channel binding (GO:0044325)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)		Bosutinib(DB06616)|Ponatinib(DB08901)	TCACCAGGGAGGAGCCCATTT	0.517																																																	0													89.0	78.0	82.0					8																	56879419		2203	4300	6503	SO:0001819	synonymous_variant	0			M16038	CCDS6162.1, CCDS47859.1	8q13	2014-06-25	2014-06-25		ENSG00000254087	ENSG00000254087		"""SH2 domain containing"""	6735	protein-coding gene	gene with protein product		165120	"""v-yes-1 Yamaguchi sarcoma viral related oncogene homolog"""			3561390	Standard	NM_002350		Approved	JTK8	uc003xsk.4	P07948	OTTHUMG00000044345	ENST00000519728.1:c.936G>A	8.37:g.56879419G>A			A0AVQ5	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain	p.E312	ENST00000519728.1	37	c.936	CCDS6162.1	8																																																																																			LYN	-	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	ENSG00000254087		0.517	LYN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LYN	HGNC	protein_coding	OTTHUMT00000378155.1	-	0.00	34	0	G	NM_002350		56879419	+1	tier1	-	no_errors	ENST00000519728	ensembl	human	known	74_37	silent	12.31	57	8	SNP	0.998	A
MAGEH1	28986	genome.wustl.edu	37	X	55479335	55479335	+	Silent	SNP	C	C	T			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chrX:55479335C>T	ENST00000342972.1	+	1	798	c.528C>T	c.(526-528)gtC>gtT	p.V176V	hsa-mir-4536-2_ENST00000583537.1_RNA	NM_014061.3	NP_054780.2	Q9H213	MAGH1_HUMAN	melanoma antigen family H, 1	176	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				apoptotic process (GO:0006915)	cytoplasm (GO:0005737)				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|skin(2)	15						AACTGAAAGTCATGCATTTTG	0.512																																																	0													108.0	101.0	103.0					X																	55479335		2203	4300	6503	SO:0001819	synonymous_variant	0			AF320912	CCDS14369.1	Xp11.22	2008-02-05			ENSG00000187601	ENSG00000187601			24092	protein-coding gene	gene with protein product		300548				12414813, 9485030	Standard	NM_014061		Approved	APR1	uc004dum.3	Q9H213	OTTHUMG00000021655	ENST00000342972.1:c.528C>T	X.37:g.55479335C>T			B2R8V9|Q5JRJ3|Q9Y5M2	Silent	SNP	pfam_MAGE,pfscan_MAGE	p.V176	ENST00000342972.1	37	c.528	CCDS14369.1	X																																																																																			MAGEH1	-	pfam_MAGE,pfscan_MAGE	ENSG00000187601		0.512	MAGEH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEH1	HGNC	protein_coding	OTTHUMT00000056868.1	-	0.00	25	0	C	NM_014061		55479335	+1	tier1	-	no_errors	ENST00000342972	ensembl	human	known	74_37	silent	41.86	25	18	SNP	0.988	T
MAP10	54627	genome.wustl.edu	37	1	232942210	232942211	+	Frame_Shift_Ins	INS	-	-	A			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr1:232942210_232942211insA	ENST00000418460.1	+	1	1568_1569	c.1441_1442insA	c.(1441-1443)gaafs	p.E481fs		NM_019090.2	NP_061963.2	Q9P2G4	MAP10_HUMAN	microtubule-associated protein 10	339					cytoplasmic microtubule organization (GO:0031122)|positive regulation of cytokinesis (GO:0032467)|regulation of microtubule-based process (GO:0032886)|spindle midzone assembly involved in mitosis (GO:0051256)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|mitotic spindle pole (GO:0097431)	microtubule binding (GO:0008017)										TGCTTCTCCTGAAAAAAAGCGT	0.45																																																	0																																										SO:0001589	frameshift_variant	0			AB037804	CCDS44334.1	1q42.2	2013-02-12	2013-02-12	2013-02-12	ENSG00000212916	ENSG00000212916			29265	protein-coding gene	gene with protein product	"""microtubule regulator 120 KDa"""		"""KIAA1383"""	KIAA1383		23264731	Standard	NM_019090		Approved	MTR120	uc001hvh.2	Q9P2G4	OTTHUMG00000037819	ENST00000418460.1:c.1448dupA	1.37:g.232942217_232942217dupA	ENSP00000403208:p.Glu481fs		A8K2F1|Q32MI1|Q58EZ9|Q5VV83	Frame_Shift_Ins	INS	NULL	p.R484fs	ENST00000418460.1	37	c.1441_1442	CCDS44334.1	1																																																																																			MAP10	-	NULL	ENSG00000212916		0.450	MAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP10	HGNC	protein_coding	OTTHUMT00000092317.3		0.00	44	0	-	NM_019090		232942211	+1	tier1		no_errors	ENST00000418460	ensembl	human	known	74_37	frame_shift_ins	6.67	28	2	INS	0.013:0.010	A
MAP1S	55201	genome.wustl.edu	37	19	17838519	17838519	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr19:17838519G>T	ENST00000324096.4	+	5	2477	c.2326G>T	c.(2326-2328)Ggg>Tgg	p.G776W	MAP1S_ENST00000544059.2_Missense_Mutation_p.G750W|MAP1S_ENST00000597681.1_3'UTR|CTD-3149D2.4_ENST00000595363.1_RNA	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	776	Necessary for association with microtubules.|Necessary for interaction with RASSF1 isoform A and isoform C.|Necessary for the microtubule-organizing center localization.|Pro-rich.				apoptotic DNA fragmentation (GO:0006309)|brain development (GO:0007420)|execution phase of apoptosis (GO:0097194)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|nervous system development (GO:0007399)|neuron projection morphogenesis (GO:0048812)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	actin filament binding (GO:0051015)|beta-tubulin binding (GO:0048487)|DNA binding (GO:0003677)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						ACGGGCAGGTGGGCTGGGGGC	0.687																																																	0													18.0	19.0	19.0					19																	17838519		2194	4295	6489	SO:0001583	missense	0			BC067115	CCDS32954.1	19p13.12	2008-02-05	2006-07-04	2006-07-04		ENSG00000130479			15715	protein-coding gene	gene with protein product		607573	"""chromosome 19 open reading frame 5"", ""VCY2 interacting protein 1"", ""BPY2 interacting protein 1"""	C19orf5, VCY2IP1, BPY2IP1		11827465, 15528209, 16297881, 14627543	Standard	NM_018174		Approved	FLJ10669, MAP8	uc002nhe.1	Q66K74		ENST00000324096.4:c.2326G>T	19.37:g.17838519G>T	ENSP00000325313:p.Gly776Trp		B4DH53|Q27QB1|Q6NXF1|Q8N3L8|Q8N3W5|Q8NI88|Q96H94|Q96IT4|Q96SP8|Q9BRC6|Q9H928|Q9NVK7	Missense_Mutation	SNP	NULL	p.G776W	ENST00000324096.4	37	c.2326	CCDS32954.1	19	.	.	.	.	.	.	.	.	.	.	G	13.63	2.294609	0.40594	.	.	ENSG00000130479	ENST00000324096;ENST00000544059	T;T	0.20881	2.04;2.04	4.31	1.88	0.25563	.	0.506480	0.16592	N	0.207720	T	0.29158	0.0725	L	0.39898	1.24	0.09310	N	1	D;D	0.53619	0.961;0.961	P;P	0.56278	0.639;0.795	T	0.07347	-1.0777	10	0.87932	D	0	-5.0589	11.3241	0.49438	0.0:0.3543:0.6457:0.0	.	750;776	B4DH53;Q66K74	.;MAP1S_HUMAN	W	776;750	ENSP00000325313:G776W;ENSP00000439243:G750W	ENSP00000325313:G776W	G	+	1	0	MAP1S	17699519	0.038000	0.19896	0.002000	0.10522	0.287000	0.27160	1.264000	0.33015	0.744000	0.32741	0.655000	0.94253	GGG	MAP1S	-	NULL	ENSG00000130479		0.687	MAP1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP1S	HGNC	protein_coding	OTTHUMT00000466027.1		0.00	9	0	G	NM_018174		17838519	+1			no_errors	ENST00000324096	ensembl	human	known	74_37	missense	50.00	3	3	SNP	0.004	T
MAP3K19	80122	genome.wustl.edu	37	2	135756433	135756433	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr2:135756433C>T	ENST00000375845.3	-	5	479	c.449G>A	c.(448-450)aGg>aAg	p.R150K	MAP3K19_ENST00000392918.3_Missense_Mutation_p.R150K|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392915.1_Missense_Mutation_p.R167K|MAP3K19_ENST00000375844.3_Missense_Mutation_p.R150K|MAP3K19_ENST00000392917.3_Missense_Mutation_p.R150K|MAP3K19_ENST00000358371.4_Intron	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	150							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										GCAGAGCTCCCTGGAACTTTC	0.433																																																	0													80.0	82.0	81.0					2																	135756433		2203	4300	6503	SO:0001583	missense	0			AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	26249	protein-coding gene	gene with protein product			"""Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"""	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.449G>A	2.37:g.135756433C>T	ENSP00000365005:p.Arg150Lys		B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.R150K	ENST00000375845.3	37	c.449	CCDS2176.2	2	.	.	.	.	.	.	.	.	.	.	C	6.049	0.377333	0.11466	.	.	ENSG00000176601	ENST00000375845;ENST00000375844;ENST00000392918;ENST00000392917;ENST00000392915	T;T;T;T;T	0.70045	-0.34;-0.38;-0.45;-0.37;2.04	5.19	0.103	0.14526	.	1.281410	0.05519	N	0.561682	T	0.30885	0.0779	N	0.01576	-0.805	0.09310	N	0.999996	B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.04013	0.0;0.0;0.001;0.001;0.001;0.0	T	0.33420	-0.9869	10	0.02654	T	1	.	3.4923	0.07642	0.1597:0.264:0.0:0.5763	.	150;150;150;167;150;150	B7ZMH9;Q56UN5-2;Q56UN5-4;A8MWG7;Q56UN5-5;Q56UN5	.;.;.;.;.;YSK4_HUMAN	K	150;150;150;150;167	ENSP00000365005:R150K;ENSP00000365004:R150K;ENSP00000376650:R150K;ENSP00000376649:R150K;ENSP00000376647:R167K	ENSP00000365004:R150K	R	-	2	0	YSK4	135472903	0.000000	0.05858	0.019000	0.16419	0.138000	0.21146	0.381000	0.20619	-0.104000	0.12154	-0.888000	0.02935	AGG	MAP3K19	-	NULL	ENSG00000176601		0.433	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP3K19	HGNC	protein_coding	OTTHUMT00000158244.1		0.00	66	0	C	NM_025052		135756433	-1			no_errors	ENST00000375845	ensembl	human	known	74_37	missense	5.56	68	4	SNP	0.006	T
MARK3	4140	genome.wustl.edu	37	14	103931996	103931996	+	Missense_Mutation	SNP	A	A	T			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr14:103931996A>T	ENST00000429436.2	+	8	1153	c.643A>T	c.(643-645)Agt>Tgt	p.S215C	MARK3_ENST00000561071.1_Intron|MARK3_ENST00000416682.2_Missense_Mutation_p.S238C|MARK3_ENST00000216288.7_Missense_Mutation_p.S215C|MARK3_ENST00000440884.3_Intron|MARK3_ENST00000553942.1_Missense_Mutation_p.S215C|MARK3_ENST00000303622.9_Missense_Mutation_p.S215C|MARK3_ENST00000335102.5_Missense_Mutation_p.S238C	NM_001128918.1|NM_001128919.1	NP_001122390.1|NP_001122391.1	P27448	MARK3_HUMAN	MAP/microtubule affinity-regulating kinase 3	215	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30		Melanoma(154;0.155)	Epithelial(46;0.241)			GTTTTGTGGCAGTCCTCCATA	0.438																																																	0													101.0	102.0	102.0					14																	103931996		2001	4193	6194	SO:0001583	missense	0			M80359	CCDS41993.1, CCDS45165.1, CCDS45166.1, CCDS45167.1, CCDS55947.1	14q32.32	2014-04-07			ENSG00000075413	ENSG00000075413			6897	protein-coding gene	gene with protein product		602678				9533022	Standard	NM_002376		Approved	CTAK1, KP78, PAR-1A	uc001ymz.4	P27448	OTTHUMG00000171789	ENST00000429436.2:c.643A>T	14.37:g.103931996A>T	ENSP00000411397:p.Ser215Cys		O60219|Q86TT8|Q8TB41|Q8WX83|Q96RG1|Q9UMY9|Q9UN34	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_KA1_dom,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.S215C	ENST00000429436.2	37	c.643	CCDS45165.1	14	.	.	.	.	.	.	.	.	.	.	A	23.9	4.472991	0.84640	.	.	ENSG00000075413	ENST00000335102;ENST00000416682;ENST00000429436;ENST00000303622;ENST00000216288;ENST00000553942	T;T;T;T;T;T	0.28895	1.59;1.59;1.59;1.59;1.59;1.59	5.64	5.64	0.86602	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.086633	0.85682	D	0.000000	T	0.61085	0.2319	M	0.86268	2.805	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.998;0.999;1.0;0.999;1.0;0.998	T	0.68017	-0.5520	10	0.87932	D	0	.	15.86	0.79014	1.0:0.0:0.0:0.0	.	238;238;215;215;215;215	P27448-7;P27448-2;P27448-6;P27448;P27448-4;P27448-3	.;.;.;MARK3_HUMAN;.;.	C	238;238;215;215;215;215	ENSP00000335347:S238C;ENSP00000408092:S238C;ENSP00000411397:S215C;ENSP00000303698:S215C;ENSP00000216288:S215C;ENSP00000450772:S215C	ENSP00000216288:S215C	S	+	1	0	MARK3	103001749	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.079000	0.76829	2.135000	0.66039	0.528000	0.53228	AGT	MARK3	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000075413		0.438	MARK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARK3	HGNC	protein_coding	OTTHUMT00000415144.1	-	0.00	53	0	A	NM_001128918		103931996	+1	tier1	-	no_errors	ENST00000429436	ensembl	human	known	74_37	missense	44.16	43	34	SNP	1.000	T
MARS	4141	genome.wustl.edu	37	12	57905572	57905572	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr12:57905572G>T	ENST00000262027.5	+	12	1594	c.1460G>T	c.(1459-1461)cGg>cTg	p.R487L	MARS_ENST00000447721.2_3'UTR|RN7SL312P_ENST00000582079.1_RNA|MARS_ENST00000315473.5_Missense_Mutation_p.R253L|RNU6-594P_ENST00000517056.1_RNA	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	methionyl-tRNA synthetase	487					gene expression (GO:0010467)|methionyl-tRNA aminoacylation (GO:0006431)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|methionine-tRNA ligase activity (GO:0004825)|tRNA binding (GO:0000049)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	TCTTGGCTTCGGGATGGCCTC	0.512																																																	0													99.0	82.0	88.0					12																	57905572		2203	4300	6503	SO:0001583	missense	0			X94754	CCDS8942.1	12q13.3	2014-05-06	2007-02-26		ENSG00000166986	ENSG00000166986	6.1.1.10	"""Aminoacyl tRNA synthetases / Class I"""	6898	protein-coding gene	gene with protein product	"""methionine tRNA ligase 1, cytoplasmic"""	156560				10448063, 24482476	Standard	NM_004990		Approved	MetRS, SPG70	uc001sog.3	P56192	OTTHUMG00000169996	ENST00000262027.5:c.1460G>T	12.37:g.57905572G>T	ENSP00000262027:p.Arg487Leu		B3KVK7|Q14895|Q53H14|Q96A15|Q96BZ0|Q9NSE0	Missense_Mutation	SNP	pfam_Methionyl/Leucyl_tRNA_Synth,pfam_WHEP-TRS,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Glutathione-S-Trfase_C-like,superfamily_S15_NS1_RNA-bd,superfamily_Thioredoxin-like_fold,pfscan_WHEP-TRS,prints_Met-tRNA_synth,tigrfam_Met-tRNA_synth	p.R487L	ENST00000262027.5	37	c.1460	CCDS8942.1	12	.	.	.	.	.	.	.	.	.	.	G	26.4	4.729914	0.89390	.	.	ENSG00000166986	ENST00000262027;ENST00000315473	T;T	0.45276	1.43;0.9	5.19	5.19	0.71726	Aminoacyl-tRNA synthetase, class I (M) (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.85682	D	0.000000	T	0.67767	0.2928	M	0.82193	2.58	0.80722	D	1	P;D;D	0.64830	0.661;0.994;0.958	B;D;P	0.69654	0.247;0.965;0.804	T	0.72620	-0.4238	10	0.72032	D	0.01	-17.1801	17.8698	0.88808	0.0:0.0:1.0:0.0	.	253;360;487	A6NC17;B4E0E9;P56192	.;.;SYMC_HUMAN	L	487;253	ENSP00000262027:R487L;ENSP00000314653:R253L	ENSP00000262027:R487L	R	+	2	0	MARS	56191839	1.000000	0.71417	1.000000	0.80357	0.747000	0.42532	9.202000	0.95026	2.596000	0.87737	0.491000	0.48974	CGG	MARS	-	pfam_Methionyl/Leucyl_tRNA_Synth,tigrfam_Met-tRNA_synth	ENSG00000166986		0.512	MARS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MARS	HGNC	protein_coding	OTTHUMT00000407014.1	-	0.00	57	0	G	NM_004990		57905572	+1	tier1	-	no_errors	ENST00000262027	ensembl	human	known	74_37	missense	5.97	63	4	SNP	1.000	T
MCM9	254394	genome.wustl.edu	37	6	119137014	119137014	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr6:119137014G>A	ENST00000316316.6	-	13	2691	c.2405C>T	c.(2404-2406)tCa>tTa	p.S802L		NM_017696.2	NP_060166.2	Q9NXL9	MCM9_HUMAN	minichromosome maintenance complex component 9	802					cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|female gamete generation (GO:0007292)	MCM8-MCM9 complex (GO:0097362)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_cancers(87;0.122)|all_epithelial(87;0.179)		GBM - Glioblastoma multiforme(226;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.194)		CTCTCCTGGTGATGGAAGCAA	0.468																																																	0																																										SO:0001583	missense	0			BC031658	CCDS5121.1, CCDS56447.1	6q22.31	2009-11-16	2007-04-04	2007-04-04	ENSG00000111877	ENSG00000111877			21484	protein-coding gene	gene with protein product		610098	"""minichromosome maintenance deficient domain containing 1"", ""chromosome 6 open reading frame 61"""	MCMDC1, C6orf61		16226853, 15850810, 16495042	Standard	NM_153255		Approved	MGC35304, dJ329L24.3, FLJ20170	uc021zeh.1	Q9NXL9	OTTHUMG00000015468	ENST00000316316.6:c.2405C>T	6.37:g.119137014G>A	ENSP00000314505:p.Ser802Leu		B4DR30|B9DI77|Q2KHJ0|Q8N5S5|Q9HCV5	Missense_Mutation	SNP	pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,smart_AAA+_ATPase,prints_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase	p.S802L	ENST00000316316.6	37	c.2405	CCDS56447.1	6	.	.	.	.	.	.	.	.	.	.	G	14.45	2.538441	0.45176	.	.	ENSG00000111877	ENST00000316316;ENST00000243218	T	0.03745	3.82	6.17	3.36	0.38483	.	6.964970	0.00166	N	0.000001	T	0.01661	0.0053	L	0.34521	1.04	0.21697	N	0.99959	B	0.10296	0.003	B	0.06405	0.002	T	0.42749	-0.9433	10	0.62326	D	0.03	.	10.7916	0.46436	0.0678:0.3588:0.5735:0.0	.	802	Q9NXL9	MCM9_HUMAN	L	802;421	ENSP00000314505:S802L	ENSP00000243218:S421L	S	-	2	0	MCM9	119243717	0.995000	0.38212	0.208000	0.23602	0.118000	0.20060	2.724000	0.47285	0.939000	0.37446	0.655000	0.94253	TCA	MCM9	-	NULL	ENSG00000111877		0.468	MCM9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MCM9	HGNC	protein_coding	OTTHUMT00000042005.4	-	0.00	83	0	G	NM_153255		119137014	-1	tier1	-	no_errors	ENST00000316316	ensembl	human	known	74_37	missense	20.17	95	24	SNP	0.154	A
MEF2C	4208	genome.wustl.edu	37	5	88018583	88018583	+	Silent	SNP	A	A	T			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr5:88018583A>T	ENST00000437473.2	-	11	1677	c.1260T>A	c.(1258-1260)ccT>ccA	p.P420P	MEF2C_ENST00000340208.5_Silent_p.P430P|MEF2C_ENST00000514015.1_Silent_p.P388P|MEF2C_ENST00000514028.1_Silent_p.P420P|CTC-467M3.1_ENST00000510274.1_RNA|MEF2C_ENST00000508569.1_Silent_p.P380P|MEF2C_ENST00000539796.1_Silent_p.P364P|MEF2C_ENST00000506554.1_Missense_Mutation_p.L396Q|MEF2C_ENST00000504921.2_Silent_p.P420P|MEF2C_ENST00000424173.2_Silent_p.P410P|MEF2C_ENST00000510942.1_Silent_p.P412P	NM_001193350.1|NM_002397.4	NP_001180279.1|NP_002388.2	Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	420					apoptotic process (GO:0006915)|B cell homeostasis (GO:0001782)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac ventricle formation (GO:0003211)|cartilage morphogenesis (GO:0060536)|cell morphogenesis involved in neuron differentiation (GO:0048667)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|cellular response to fluid shear stress (GO:0071498)|cellular response to glucose stimulus (GO:0071333)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to trichostatin A (GO:0035984)|chondrocyte differentiation (GO:0002062)|dentate gyrus development (GO:0021542)|embryonic viscerocranium morphogenesis (GO:0048703)|endochondral ossification (GO:0001958)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|germinal center formation (GO:0002467)|glomerulus morphogenesis (GO:0072102)|heart development (GO:0007507)|heart looping (GO:0001947)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|MAPK cascade (GO:0000165)|melanocyte differentiation (GO:0030318)|monocyte differentiation (GO:0030224)|muscle cell differentiation (GO:0042692)|muscle cell fate determination (GO:0007521)|muscle organ development (GO:0007517)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myotube differentiation (GO:0014902)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of ossification (GO:0030279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nephron tubule epithelial cell differentiation (GO:0072160)|nervous system development (GO:0007399)|neural crest cell differentiation (GO:0014033)|neuron development (GO:0048666)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|osteoblast differentiation (GO:0001649)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|platelet formation (GO:0030220)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation in bone marrow (GO:0071864)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of skeletal muscle cell differentiation (GO:2001016)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|primary heart field specification (GO:0003138)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of dendritic spine development (GO:0060998)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of germinal center formation (GO:0002634)|regulation of megakaryocyte differentiation (GO:0045652)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron apoptotic process (GO:0043523)|regulation of neurotransmitter secretion (GO:0046928)|regulation of sarcomere organization (GO:0060297)|regulation of synapse assembly (GO:0051963)|regulation of synaptic activity (GO:0060025)|regulation of synaptic plasticity (GO:0048167)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|renal tubule morphogenesis (GO:0061333)|response to ischemia (GO:0002931)|response to virus (GO:0009615)|response to vitamin E (GO:0033197)|secondary heart field specification (GO:0003139)|sinoatrial valve morphogenesis (GO:0003185)|skeletal muscle tissue development (GO:0007519)|smooth muscle cell differentiation (GO:0051145)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|sarcomere (GO:0030017)	activating transcription factor binding (GO:0033613)|AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|miRNA binding (GO:0035198)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|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 positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		AGCTGTCAACAGGAGATCTCC	0.577										HNSCC(66;0.2)																																							0													119.0	126.0	124.0					5																	88018583		2034	4196	6230	SO:0001819	synonymous_variant	0			AL833268	CCDS47244.1, CCDS47245.1, CCDS54877.1, CCDS54878.1	5q14.3	2013-07-03	2007-04-24		ENSG00000081189	ENSG00000081189		"""Myocyte enhancer factors"""	6996	protein-coding gene	gene with protein product		600662				8455629	Standard	NM_002397		Approved		uc003kjl.3	Q06413	OTTHUMG00000162634	ENST00000437473.2:c.1260T>A	5.37:g.88018583A>T			C9JMZ0|D7F7N5|F8W7V7	Missense_Mutation	SNP	pfam_TF_MADSbox,pfam_HJURP_C,superfamily_TF_MADSbox,smart_TF_MADSbox,prints_TF_MADSbox,pfscan_TF_MADSbox	p.L396Q	ENST00000437473.2	37	c.1187	CCDS47245.1	5	.	.	.	.	.	.	.	.	.	.	A	11.72	1.721497	0.30503	.	.	ENSG00000081189	ENST00000506554	T	0.67345	-0.26	5.69	5.69	0.88448	.	.	.	.	.	T	0.79381	0.4436	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.81920	-0.0712	6	0.87932	D	0	-5.1946	15.9216	0.79580	1.0:0.0:0.0:0.0	.	.	.	.	Q	396	ENSP00000425636:L396Q	ENSP00000425636:L396Q	L	-	2	0	MEF2C	88054339	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.189000	0.42621	2.291000	0.77112	0.533000	0.62120	CTG	MEF2C	-	NULL	ENSG00000081189		0.577	MEF2C-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	MEF2C	HGNC	protein_coding	OTTHUMT00000369817.1	-	0.00	47	0	A	NM_002397		88018583	-1	tier1	-	no_errors	ENST00000506554	ensembl	human	putative	74_37	missense	40.38	31	21	SNP	1.000	T
MEGF10	84466	genome.wustl.edu	37	5	126738367	126738367	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr5:126738367G>T	ENST00000274473.6	+	9	1177	c.910G>T	c.(910-912)Ggg>Tgg	p.G304W	MEGF10_ENST00000418761.2_Missense_Mutation_p.G304W|MEGF10_ENST00000508365.1_Missense_Mutation_p.G304W|MEGF10_ENST00000503335.2_Missense_Mutation_p.G304W	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	304	EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00076}.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				homotypic cell-cell adhesion (GO:0034109)|muscle cell development (GO:0055001)|recognition of apoptotic cell (GO:0043654)|regulation of muscle cell differentiation (GO:0051147)|regulation of skeletal muscle tissue development (GO:0048641)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell differentiation (GO:0014816)|skeletal muscle satellite cell proliferation (GO:0014841)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		AGGATACACAGGGGAACGGTA	0.488																																																	0													190.0	162.0	171.0					5																	126738367		2203	4300	6503	SO:0001583	missense	0			AK021631	CCDS4142.1	5q33	2008-02-05			ENSG00000145794	ENSG00000145794			29634	protein-coding gene	gene with protein product		612453				11347906	Standard	NM_032446		Approved	KIAA1780	uc003kui.4	Q96KG7	OTTHUMG00000128984	ENST00000274473.6:c.910G>T	5.37:g.126738367G>T	ENSP00000274473:p.Gly304Trp		Q68DE5|Q8WUL3	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_EGF_extracell,superfamily_Proteinase_amylase_inhib_dom,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EMI_domain	p.G304W	ENST00000274473.6	37	c.910	CCDS4142.1	5	.	.	.	.	.	.	.	.	.	.	G	24.4	4.526250	0.85600	.	.	ENSG00000145794	ENST00000503335;ENST00000508365;ENST00000418761;ENST00000274473	D;D;D;D	0.85702	-2.02;-2.02;-2.02;-2.02	5.75	5.75	0.90469	EGF, extracellular (1);EGF-like, laminin (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.64402	D	0.000001	D	0.96558	0.8877	H	0.99650	4.68	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.98166	1.0449	10	0.87932	D	0	-11.7523	19.951	0.97199	0.0:0.0:1.0:0.0	.	304;304	Q96KG7-2;Q96KG7	.;MEG10_HUMAN	W	304	ENSP00000423354:G304W;ENSP00000423195:G304W;ENSP00000416284:G304W;ENSP00000274473:G304W	ENSP00000274473:G304W	G	+	1	0	MEGF10	126766266	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.645000	0.98471	2.723000	0.93209	0.650000	0.86243	GGG	MEGF10	-	pfam_EGF_laminin,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom	ENSG00000145794		0.488	MEGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEGF10	HGNC	protein_coding	OTTHUMT00000250973.2	-	0.00	76	0	G	NM_032446		126738367	+1	tier1	-	no_errors	ENST00000274473	ensembl	human	known	74_37	missense	7.55	49	4	SNP	1.000	T
MIPOL1	145282	genome.wustl.edu	37	14	37992724	37992724	+	Intron	SNP	G	G	C			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr14:37992724G>C	ENST00000327441.7	+	13	1728				MIPOL1_ENST00000556451.1_Missense_Mutation_p.E406Q|MIPOL1_ENST00000545536.1_Missense_Mutation_p.E406Q|MIPOL1_ENST00000536774.1_Intron|MIPOL1_ENST00000396294.2_Intron|MIPOL1_ENST00000539062.2_Intron|MIPOL1_ENST00000537471.1_Intron	NM_001195296.1|NM_001195297.1|NM_138731.6	NP_001182225.1|NP_001182226.1|NP_620059.1	Q8TD10	MIPO1_HUMAN	mirror-image polydactyly 1							nucleus (GO:0005634)				breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23	Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196)	GBM - Glioblastoma multiforme(112;0.0358)		AGATGAAAGAGAAAAATTCCT	0.239																																																	0																																										SO:0001627	intron_variant	0			AY059470	CCDS9664.1	14q13.3	2010-05-25			ENSG00000151338	ENSG00000151338			21460	protein-coding gene	gene with protein product		606850				11954550, 19667180	Standard	NM_001195296		Approved		uc001wuc.3	Q8TD10	OTTHUMG00000140252	ENST00000327441.7:c.1262+23381G>C	14.37:g.37992724G>C			D3DSA4|Q7Z3J0|Q8IV14	Missense_Mutation	SNP	NULL	p.E406Q	ENST00000327441.7	37	c.1216	CCDS9664.1	14	.	.	.	.	.	.	.	.	.	.	G	10.84	1.462753	0.26248	.	.	ENSG00000151338	ENST00000556451;ENST00000545536	T;T	0.50001	0.76;0.76	2.47	-0.468	0.12146	.	.	.	.	.	T	0.25494	0.0620	.	.	.	0.09310	N	1	P	0.34684	0.463	B	0.26517	0.07	T	0.10590	-1.0623	8	0.35671	T	0.21	.	3.6053	0.08039	0.2488:0.0:0.5544:0.1968	.	406	Q49AL5	.	Q	406	ENSP00000450479:E406Q;ENSP00000442529:E406Q	ENSP00000442529:E406Q	E	+	1	0	MIPOL1	37062475	0.067000	0.21026	0.001000	0.08648	0.016000	0.09150	0.255000	0.18333	-0.109000	0.12044	-0.136000	0.14681	GAA	MIPOL1	-	NULL	ENSG00000151338		0.239	MIPOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIPOL1	HGNC	protein_coding	OTTHUMT00000276734.1	-	0.00	68	0	G	NM_138731		37992724	+1	tier1	-	no_errors	ENST00000545536	ensembl	human	known	74_37	missense	42.22	52	38	SNP	0.000	C
MIR137HG	400765	genome.wustl.edu	37	1	98510870	98510870	+	lincRNA	SNP	G	G	A			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr1:98510870G>A	ENST00000580305.1	-	0	37				MIR137HG_ENST00000385223.1_lincRNA	NR_039604.1				MIR137 host gene (non-protein coding)																		TTGGACGTCTGAACAGTCACT	0.567																																																	0																																												0			AK094607		1p21.3	2013-05-22			ENSG00000225206	ENSG00000225206		"""Long non-coding RNAs"""	42871	non-coding RNA	RNA, long non-coding							Standard	NR_046105		Approved		uc001drx.2		OTTHUMG00000010680		1.37:g.98510870G>A				RNA	SNP	-	NULL	ENST00000580305.1	37	NULL		1																																																																																			MIR137HG	-	-	ENSG00000225206		0.567	MIR137HG-203	KNOWN	basic	miRNA	MIR137HG	HGNC	lincRNA		-	0.00	27	0	G	NR_046105		98510870	-1	tier1	-	no_errors	ENST00000413670	ensembl	human	known	74_37	rna	73.81	11	31	SNP	0.764	A
TENM4	26011	genome.wustl.edu	37	11	79113144	79113144	+	Intron	SNP	G	G	A			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr11:79113144G>A	ENST00000278550.7	-	1	143				MIR708_ENST00000390708.1_RNA	NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4						cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										taagctccttgagggcagtta	0.502																																																	0													75.0	73.0	73.0					11																	79113144		1554	3540	5094	SO:0001627	intron_variant	0			AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"""odz, odd Oz/ten-m homolog 4 (Drosophila)"""	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.319+38408C>T	11.37:g.79113144G>A			A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	RNA	SNP	-	NULL	ENST00000278550.7	37	NULL	CCDS44688.1	11																																																																																			MIR708	-	-	ENSG00000211997		0.502	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIR708	HGNC	protein_coding	OTTHUMT00000391406.2	-	0.00	58	0	G			79113144	-1	tier1	-	no_errors	ENST00000390708	ensembl	human	known	74_37	rna	19.57	74	18	SNP	1.000	A
MME	4311	genome.wustl.edu	37	3	154802112	154802112	+	Silent	SNP	C	C	T	rs202173429		TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr3:154802112C>T	ENST00000460393.1	+	2	276	c.156C>T	c.(154-156)taC>taT	p.Y52Y	MME_ENST00000492661.1_Silent_p.Y52Y|MME_ENST00000462745.1_Silent_p.Y52Y|MME_ENST00000493237.1_Silent_p.Y52Y|MME_ENST00000382989.3_Silent_p.Y52Y|MME_ENST00000360490.2_Silent_p.Y52Y	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	52					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cellular protein metabolic process (GO:0044267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to UV-A (GO:0071492)|cellular response to UV-B (GO:0071493)|creatinine metabolic process (GO:0046449)|kidney development (GO:0001822)|peptide metabolic process (GO:0006518)|proteolysis (GO:0006508)|replicative senescence (GO:0090399)|sensory perception of pain (GO:0019233)	axon (GO:0030424)|brush border (GO:0005903)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)|Liraglutide(DB06655)	ATGCAACCTACGATGGTGAGT	0.468													C|||	1	0.000199681	0.0	0.0	5008	,	,		16222	0.0		0.001	False		,,,				2504	0.0																0													125.0	115.0	119.0					3																	154802112		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS3172.1	3q25.2	2012-01-31	2007-02-21		ENSG00000196549	ENSG00000196549	3.4.24.11	"""CD molecules"""	7154	protein-coding gene	gene with protein product	"""neutral endopeptidase"", ""enkephalinase"", ""neprilysin"""	120520					Standard	NM_007287		Approved	CALLA, CD10, NEP	uc003fad.1	P08473	OTTHUMG00000158455	ENST00000460393.1:c.156C>T	3.37:g.154802112C>T			A8K6U6|D3DNJ9|Q3MIX4	Silent	SNP	pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C	p.Y52	ENST00000460393.1	37	c.156	CCDS3172.1	3																																																																																			MME	-	NULL	ENSG00000196549		0.468	MME-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MME	HGNC	protein_coding	OTTHUMT00000351076.1		0.00	29	0	C	NM_000902		154802112	+1			no_errors	ENST00000360490	ensembl	human	known	74_37	silent	8.00	23	2	SNP	0.761	T
MMP14	4323	genome.wustl.edu	37	14	23306080	23306080	+	Silent	SNP	C	C	A	rs569732507		TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr14:23306080C>A	ENST00000311852.6	+	1	315	c.54C>A	c.(52-54)ctC>ctA	p.L18L	MMP14_ENST00000548162.1_3'UTR	NM_004995.2	NP_004986.1	P50281	MMP14_HUMAN	matrix metallopeptidase 14 (membrane-inserted)	18					angiogenesis (GO:0001525)|astrocyte cell migration (GO:0043615)|branching morphogenesis of an epithelial tube (GO:0048754)|chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|endodermal cell differentiation (GO:0035987)|endothelial cell proliferation (GO:0001935)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|male gonad development (GO:0008584)|negative regulation of focal adhesion assembly (GO:0051895)|ovarian follicle development (GO:0001541)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|proteolysis (GO:0006508)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|tissue remodeling (GO:0048771)|zymogen activation (GO:0031638)	extracellular matrix (GO:0031012)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|peptidase activator activity (GO:0016504)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)	Marimastat(DB00786)	TGCTCACGCTCGGCACCGCGC	0.731											OREG0022586	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													29.0	24.0	26.0					14																	23306080		2203	4298	6501	SO:0001819	synonymous_variant	0				CCDS9577.1	14q11-q12	2011-06-29	2005-08-08		ENSG00000157227	ENSG00000157227			7160	protein-coding gene	gene with protein product	"""membrane type 1 metalloprotease"""	600754	"""matrix metalloproteinase 14 (membrane-inserted)"""			8015608	Standard	NM_004995		Approved	MT1-MMP	uc001whc.3	P50281	OTTHUMG00000028704	ENST00000311852.6:c.54C>A	14.37:g.23306080C>A		762	A8K5L0|Q6GSF3|Q92678	Silent	SNP	pirsf_Pept_M10A_Metazoans,pfam_Hemopexin-like_repeat,pfam_Pept_M10_metallopeptidase,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A	p.L18	ENST00000311852.6	37	c.54	CCDS9577.1	14																																																																																			MMP14	-	pirsf_Pept_M10A_Metazoans	ENSG00000157227		0.731	MMP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP14	HGNC	protein_coding	OTTHUMT00000071660.3	-	0.00	235	0	C	NM_004995		23306080	+1	tier1	-	no_errors	ENST00000311852	ensembl	human	known	74_37	silent	50.62	80	82	SNP	1.000	A
MSH3	4437	genome.wustl.edu	37	5	79952246	79952246	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr5:79952246G>T	ENST00000265081.6	+	2	334	c.254G>T	c.(253-255)aGa>aTa	p.R85I	DHFR_ENST00000439211.2_5'Flank|DHFR_ENST00000513048.1_5'Flank|DHFR_ENST00000511032.1_5'Flank|DHFR_ENST00000505337.1_5'Flank|DHFR_ENST00000504396.1_5'Flank	NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	85	Interaction with EXO1.				ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|maintenance of DNA repeat elements (GO:0043570)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|heteroduplex DNA loop binding (GO:0000404)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		GAAATTGACAGAAGAAAGAAG	0.393								Mismatch excision repair (MMR)																													Melanoma(88;1010 1399 13793 26548 36275)												0													121.0	127.0	125.0					5																	79952246		2203	4300	6503	SO:0001583	missense	0			U61981	CCDS34195.1	5q11-q12	2013-09-12	2013-09-12		ENSG00000113318	ENSG00000113318			7326	protein-coding gene	gene with protein product	"""Divergent upstream protein"", ""Mismatch repair protein 1"""	600887	"""mutS (E. coli) homolog 3"", ""mutS homolog 3 (E. coli)"""				Standard	NM_002439		Approved	DUP, MRP1	uc003kgz.4	P20585	OTTHUMG00000162540	ENST00000265081.6:c.254G>T	5.37:g.79952246G>T	ENSP00000265081:p.Arg85Ile		A1L480|A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867	Missense_Mutation	SNP	pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mmatch_repair_MutS_con_dom,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,superfamily_DNA_mismatch_repair_MutS_N,superfamily_DNA_mmatch_repair_MutS_con_dom,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C	p.R85I	ENST00000265081.6	37	c.254	CCDS34195.1	5	.	.	.	.	.	.	.	.	.	.	G	11.95	1.792138	0.31685	.	.	ENSG00000113318	ENST00000265081;ENST00000535995	D	0.86627	-2.15	4.68	2.85	0.33270	.	1.400950	0.04436	N	0.370015	D	0.82692	0.5092	L	0.46157	1.445	0.09310	N	1	P	0.38642	0.641	B	0.36030	0.216	T	0.68368	-0.5427	9	.	.	.	-0.929	5.7683	0.18239	0.1015:0.0:0.7062:0.1923	.	85	P20585	MSH3_HUMAN	I	85;76	ENSP00000265081:R85I	.	R	+	2	0	MSH3	79988002	0.001000	0.12720	0.009000	0.14445	0.147000	0.21601	0.655000	0.24933	0.487000	0.27698	0.563000	0.77884	AGA	MSH3	-	NULL	ENSG00000113318		0.393	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	MSH3	HGNC	protein_coding	OTTHUMT00000369471.1	-	0.00	41	0	G	NM_002439		79952246	+1	tier1	-	no_errors	ENST00000265081	ensembl	human	known	74_37	missense	11.11	32	4	SNP	0.002	T
MT-ND2	4536	genome.wustl.edu	37	M	2141	2142	+	5'Flank	INS	-	-	AG			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chrM:2141_2142insAG	ENST00000361453.3	+	0	0				MT-ND1_ENST00000361390.2_5'Flank|MT-TI_ENST00000387365.1_RNA|MT-RNR2_ENST00000387347.2_RNA|MT-TF_ENST00000387314.1_RNA|MT-TV_ENST00000387342.1_RNA|MT-RNR1_ENST00000389680.2_RNA|MT-TQ_ENST00000387372.1_RNA|MT-TL1_ENST00000386347.1_RNA|MT-TM_ENST00000387377.1_RNA			P03891	NU2M_HUMAN	mitochondrially encoded NADH dehydrogenase 2						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(2)|lung(1)	3						GAAAAAACCTTGTAGAGAGAGT	0.386																																																	0																																										SO:0001631	upstream_gene_variant	0					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198763	ENSG00000198763	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7456	protein-coding gene	gene with protein product	"""complex I ND2 subunit"", ""NADH-ubiquinone oxidoreductase chain 2"""	516001	"""NADH dehydrogenase 2"""	MTND2			Standard			Approved	ND2, NAD2		P03891			M.37:g.2141_2142insAG	Exception_encountered		Q34769|Q9TGI0|Q9TGI1|Q9TGI2|Q9TGI3|Q9TGI4	RNA	INS	-	NULL	ENST00000361453.3	37	NULL		MT																																																																																			MT-RNR2	-	-	ENSG00000210082		0.386	MT-ND2-201	KNOWN	basic|appris_principal	protein_coding	MT-RNR2	HGNC	protein_coding			0.00	164	0	0	YP_003024027		2142	+1			no_errors	ENST00000387347	ensembl	human	known	74_37	rna	8.33	165	15	INS	NULL	AG
MTMR3	8897	genome.wustl.edu	37	22	30374971	30374971	+	Missense_Mutation	SNP	G	G	C			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr22:30374971G>C	ENST00000401950.2	+	5	482	c.140G>C	c.(139-141)cGt>cCt	p.R47P	MTMR3_ENST00000333027.3_Missense_Mutation_p.R47P|MTMR3_ENST00000415511.1_3'UTR|MTMR3_ENST00000406629.1_Missense_Mutation_p.R47P|MTMR3_ENST00000351488.3_Missense_Mutation_p.R47P|MTMR3_ENST00000323630.5_5'UTR	NM_021090.3	NP_066576.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	47					peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			TTTGTGGGCCGTGCCGAGGAT	0.423																																																	0													124.0	112.0	116.0					22																	30374971		2203	4300	6503	SO:0001583	missense	0			U58034	CCDS13870.1, CCDS13871.1, CCDS46682.1	22q12.2	2011-06-09			ENSG00000100330	ENSG00000100330		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7451	protein-coding gene	gene with protein product		603558				8640223, 9736772	Standard	NM_153050		Approved	KIAA0371, ZFYVE10, FYVE-DSP1	uc003agv.4	Q13615	OTTHUMG00000151278	ENST00000401950.2:c.140G>C	22.37:g.30374971G>C	ENSP00000384651:p.Arg47Pro		A5PL26|A7MD32|Q9NYN5|Q9NYN6|Q9UDX6|Q9UEG3	Missense_Mutation	SNP	pfam_Myotubularin-like_Pase_dom,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Tyr_Pase_cat,smart_Znf_FYVE,pfscan_Znf_FYVE-rel	p.R47P	ENST00000401950.2	37	c.140	CCDS13870.1	22	.	.	.	.	.	.	.	.	.	.	G	29.8	5.039935	0.93630	.	.	ENSG00000100330	ENST00000401950;ENST00000333027;ENST00000445401;ENST00000351488;ENST00000406629	T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06	5.92	5.92	0.95590	.	0.057238	0.64402	D	0.000001	T	0.67126	0.2860	M	0.78049	2.395	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.999	D;P;D	0.70935	0.971;0.905;0.971	T	0.66858	-0.5817	10	0.52906	T	0.07	.	19.2962	0.94122	0.0:0.0:1.0:0.0	.	47;47;47	Q13615-3;Q13615;Q13615-2	.;MTMR3_HUMAN;.	P	47	ENSP00000384651:R47P;ENSP00000331649:R47P;ENSP00000409063:R47P;ENSP00000307271:R47P;ENSP00000384077:R47P	ENSP00000331649:R47P	R	+	2	0	MTMR3	28704971	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	7.464000	0.80887	2.795000	0.96236	0.655000	0.94253	CGT	MTMR3	-	NULL	ENSG00000100330		0.423	MTMR3-001	KNOWN	basic|CCDS	protein_coding	MTMR3	HGNC	protein_coding	OTTHUMT00000322066.1	-	0.00	73	0	G	NM_021090		30374971	+1	tier1	-	no_errors	ENST00000401950	ensembl	human	known	74_37	missense	11.28	118	15	SNP	1.000	C
MUC6	4588	genome.wustl.edu	37	11	1016373	1016376	+	Frame_Shift_Del	DEL	GAAG	GAAG	-			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	GAAG	GAAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr11:1016373_1016376delGAAG	ENST00000421673.2	-	31	6475_6478	c.6425_6428delCTTC	c.(6424-6429)tcttctfs	p.SS2142fs		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	2142	Ser-rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGGCACATAAGAAGAAACAGTAGA	0.544																																																	0																																										SO:0001589	frameshift_variant	0			U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.6425_6428delCTTC	11.37:g.1016373_1016376delGAAG	ENSP00000406861:p.Ser2142fs		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Frame_Shift_Del	DEL	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C	p.S2142fs	ENST00000421673.2	37	c.6428_6425	CCDS44513.1	11																																																																																			MUC6	-	NULL	ENSG00000184956		0.544	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC6	HGNC	protein_coding	OTTHUMT00000382120.2		0.00	79	0	GAAG	XM_290540		1016376	-1	tier1		no_errors	ENST00000421673	ensembl	human	known	74_37	frame_shift_del	18.75	26	6	DEL	0.001:0.000:0.000:0.002	-
MUC6	4588	genome.wustl.edu	37	11	1031203	1031203	+	Silent	SNP	G	G	A			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr11:1031203G>A	ENST00000421673.2	-	5	590	c.540C>T	c.(538-540)gaC>gaT	p.D180D		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	180	VWFD 1. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TCACCTTCCCGTCAAAGTTCC	0.706																																																	0													19.0	17.0	18.0					11																	1031203		1815	4055	5870	SO:0001819	synonymous_variant	0			U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.540C>T	11.37:g.1031203G>A			O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C	p.D180	ENST00000421673.2	37	c.540	CCDS44513.1	11																																																																																			MUC6	-	pfam_VWF_type-D,smart_VWF_type-D	ENSG00000184956		0.706	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC6	HGNC	protein_coding	OTTHUMT00000382120.2	-	0.00	64	0	G	XM_290540		1031203	-1	tier1	-	no_errors	ENST00000421673	ensembl	human	known	74_37	silent	41.03	23	16	SNP	0.937	A
MTNR1B	4544	genome.wustl.edu	37	11	92703096	92703096	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr11:92703096C>T	ENST00000257068.2	+	1	211	c.205C>T	c.(205-207)Cgc>Tgc	p.R69C		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	69					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|regulation of insulin secretion (GO:0050796)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|melatonin receptor activity (GO:0008502)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Agomelatine(DB06594)|Melatonin(DB01065)|Ramelteon(DB00980)	GCTCAGGAACCGCAAGCTCCG	0.642																																																	0													35.0	27.0	30.0					11																	92703096		2199	4289	6488	SO:0001583	missense	0			AB033598	CCDS8290.1	11q21-q22	2012-08-08			ENSG00000134640	ENSG00000134640		"""GPCR / Class A : Melatonin receptors"""	7464	protein-coding gene	gene with protein product		600804					Standard	NM_005959		Approved		uc001pdk.1	P49286	OTTHUMG00000167364	ENST00000257068.2:c.205C>T	11.37:g.92703096C>T	ENSP00000257068:p.Arg69Cys			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Melatonin_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_Mel_1A_rcpt	p.R69C	ENST00000257068.2	37	c.205	CCDS8290.1	11	.	.	.	.	.	.	.	.	.	.	C	5.800	0.331825	0.10956	.	.	ENSG00000134640	ENST00000257068	T	0.42131	0.98	4.75	4.75	0.60458	GPCR, rhodopsin-like superfamily (1);	0.089631	0.44097	D	0.000484	T	0.73806	0.3634	H	0.95574	3.69	0.52501	D	0.999959	D	0.89917	1.0	D	0.71414	0.973	T	0.83150	-0.0104	10	0.87932	D	0	-13.1237	15.5445	0.76086	0.0:1.0:0.0:0.0	.	69	P49286	MTR1B_HUMAN	C	69	ENSP00000257068:R69C	ENSP00000257068:R69C	R	+	1	0	MTNR1B	92342744	0.757000	0.28394	0.998000	0.56505	0.031000	0.12232	-0.127000	0.10547	2.185000	0.69588	0.650000	0.86243	CGC	MTNR1B	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_NPY_rcpt	ENSG00000134640		0.642	MTNR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTNR1B	HGNC	protein_coding	OTTHUMT00000394323.1	-	0.00	63	0	C			92703096	+1	tier1	-	no_errors	ENST00000257068	ensembl	human	known	74_37	missense	23.29	56	17	SNP	1.000	T
LINC01317	104355287	genome.wustl.edu	37	2	33953082	33953082	+	lincRNA	SNP	C	C	G			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr2:33953082C>G	ENST00000366209.2	+	0	68				MYADML_ENST00000474610.1_RNA																							GAGGAACTCACGGAGAAAAGG	0.592																																																	0																																												0																															2.37:g.33953082C>G				RNA	SNP	-	NULL	ENST00000366209.2	37	NULL		2																																																																																			MYADML	-	-	ENSG00000239649		0.592	AC009499.1-002	KNOWN	non_canonical_polymorphism|basic	lincRNA	MYADML	HGNC	lincRNA	OTTHUMT00000325406.1		0.00	21	0	C			33953082	-1			no_errors	ENST00000474610	ensembl	human	known	74_37	rna	14.81	23	4	SNP	0.049	G
MYH15	22989	genome.wustl.edu	37	3	108205371	108205371	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr3:108205371G>T	ENST00000273353.3	-	11	990	c.934C>A	c.(934-936)Ctg>Atg	p.L312M		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	312	Myosin motor.					cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						ACCAGGAGCAGGTCTAGAGTG	0.428																																																	0													78.0	78.0	78.0					3																	108205371		1871	4105	5976	SO:0001583	missense	0			AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"""Myosins / Myosin superfamily : Class II"""	31073	protein-coding gene	gene with protein product		609929	"""myosin, heavy polypeptide 15"""			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.934C>A	3.37:g.108205371G>T	ENSP00000273353:p.Leu312Met			Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_Lambda_DNA-bd_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom	p.L312M	ENST00000273353.3	37	c.934	CCDS43127.1	3	.	.	.	.	.	.	.	.	.	.	T	0.017	-1.490146	0.01018	.	.	ENSG00000144821	ENST00000273353	D	0.87256	-2.23	5.47	0.024	0.14140	Myosin head, motor domain (2);	.	.	.	.	T	0.56688	0.2002	N	0.00960	-1.095	0.09310	N	0.999997	B	0.02656	0.0	B	0.12156	0.007	T	0.53136	-0.8481	9	0.02654	T	1	.	2.59	0.04840	0.1102:0.1244:0.2298:0.5355	.	312	Q9Y2K3	MYH15_HUMAN	M	312	ENSP00000273353:L312M	ENSP00000273353:L312M	L	-	1	2	MYH15	109688061	0.796000	0.28864	0.009000	0.14445	0.451000	0.32288	0.574000	0.23714	-0.531000	0.06340	-0.520000	0.04383	CTG	MYH15	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom	ENSG00000144821		0.428	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH15	HGNC	protein_coding	OTTHUMT00000353935.1		0.00	51	0	G	XM_036988		108205371	-1			no_errors	ENST00000273353	ensembl	human	known	74_37	missense	5.13	37	2	SNP	0.791	T
MYRF	745	genome.wustl.edu	37	11	61541625	61541625	+	Silent	SNP	C	C	T	rs370594037		TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr11:61541625C>T	ENST00000278836.5	+	8	1398	c.1302C>T	c.(1300-1302)caC>caT	p.H434H	MYRF_ENST00000327797.1_Silent_p.H61H|TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000265460.5_Silent_p.H425H	NM_001127392.1	NP_001120864.1	Q9Y2G1	MRF_HUMAN	myelin regulatory factor	434					central nervous system myelin maintenance (GO:0032286)|central nervous system myelination (GO:0022010)|oligodendrocyte development (GO:0014003)|oligodendrocyte differentiation (GO:0048709)|positive regulation of myelination (GO:0031643)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)										TGAAGCTGCACGGAGTGAAGG	0.592																																																	0													33.0	31.0	31.0					11																	61541625		2202	4299	6501	SO:0001819	synonymous_variant	0				CCDS31579.1, CCDS44622.1	11q12-q13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000124920	ENSG00000124920			1181	protein-coding gene	gene with protein product	"""myelin gene regulatory factor"""	608329	"""chromosome 11 open reading frame 9"""	C11orf9		10828591, 12384578	Standard	NM_001127392		Approved	Ndt80, pqn-47, MRF	uc001nsc.1	Q9Y2G1	OTTHUMG00000168161	ENST00000278836.5:c.1302C>T	11.37:g.61541625C>T			O43582|Q9P1Q6	Silent	SNP	pfam_NDT80_DNA-bd_dom,superfamily_p53-like_TF_DNA-bd	p.H434	ENST00000278836.5	37	c.1302	CCDS44622.1	11																																																																																			MYRF	-	pfam_NDT80_DNA-bd_dom,superfamily_p53-like_TF_DNA-bd	ENSG00000124920		0.592	MYRF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYRF	HGNC	protein_coding	OTTHUMT00000398519.2	-	0.00	31	0	C	NM_013279		61541625	+1	tier1	-	no_errors	ENST00000278836	ensembl	human	known	74_37	silent	25.00	27	9	SNP	0.953	T
NAV3	89795	genome.wustl.edu	37	12	78400991	78400991	+	Missense_Mutation	SNP	A	A	C			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr12:78400991A>C	ENST00000397909.2	+	8	1846	c.1673A>C	c.(1672-1674)aAg>aCg	p.K558T	NAV3_ENST00000266692.7_Missense_Mutation_p.K558T|NAV3_ENST00000228327.6_Missense_Mutation_p.K558T|NAV3_ENST00000536525.2_Missense_Mutation_p.K558T			Q8IVL0	NAV3_HUMAN	neuron navigator 3	558						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						AGGACTACCAAGGGGAGCCCT	0.483										HNSCC(70;0.22)																																							0													75.0	75.0	75.0					12																	78400991		1899	4119	6018	SO:0001583	missense	0			AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.1673A>C	12.37:g.78400991A>C	ENSP00000381007:p.Lys558Thr		Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain	p.K558T	ENST00000397909.2	37	c.1673		12	.	.	.	.	.	.	.	.	.	.	A	16.90	3.248977	0.59103	.	.	ENSG00000067798	ENST00000549464;ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	T;T;T;T;T	0.13538	2.58;2.58;2.58;2.58;2.58	5.29	4.15	0.48705	.	0.000000	0.41823	U	0.000820	T	0.24890	0.0604	M	0.65498	2.005	0.80722	D	1	D;B	0.63880	0.993;0.241	P;B	0.52598	0.703;0.192	T	0.01218	-1.1415	10	0.66056	D	0.02	-16.1033	10.9368	0.47249	0.9264:0.0:0.0736:0.0	.	558;558	Q8IVL0;Q8IVL0-2	NAV3_HUMAN;.	T	558	ENSP00000446628:K558T;ENSP00000446132:K558T;ENSP00000381007:K558T;ENSP00000228327:K558T;ENSP00000266692:K558T	ENSP00000228327:K558T	K	+	2	0	NAV3	76925122	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	6.041000	0.70988	0.863000	0.35553	-0.256000	0.11100	AAG	NAV3	-	NULL	ENSG00000067798		0.483	NAV3-001	KNOWN	basic	protein_coding	NAV3	HGNC	protein_coding	OTTHUMT00000406812.1	-	0.00	37	0	A	NM_001024383		78400991	+1	tier1	-	no_errors	ENST00000397909	ensembl	human	known	74_37	missense	87.23	6	41	SNP	1.000	C
NETO1	81832	genome.wustl.edu	37	18	70532913	70532913	+	Intron	SNP	T	T	G			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr18:70532913T>G	ENST00000327305.6	-	2	686				NETO1_ENST00000397929.1_5'UTR|NETO1_ENST00000583169.1_Intron|NETO1_ENST00000580049.1_5'UTR|NETO1_ENST00000299430.2_5'UTR	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1						memory (GO:0007613)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|receptor localization to synapse (GO:0097120)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|visual learning (GO:0008542)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)				NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		TGACTGTTCCTGACATACTGC	0.428																																																	0													78.0	76.0	77.0					18																	70532913		692	1591	2283	SO:0001627	intron_variant	0			AF448838	CCDS12000.1, CCDS42444.1	18q22.2	2008-08-01			ENSG00000166342	ENSG00000166342			13823	protein-coding gene	gene with protein product		607973				11943477, 12810072	Standard	NM_138999		Approved	BTCL1, BCTL1	uc002lkw.3	Q8TDF5	OTTHUMG00000132834	ENST00000327305.6:c.29-437A>C	18.37:g.70532913T>G			Q86W85|Q8ND78|Q8TDF4	RNA	SNP	-	NULL	ENST00000327305.6	37	NULL	CCDS12000.1	18																																																																																			NETO1	-	-	ENSG00000166342		0.428	NETO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NETO1	HGNC	protein_coding	OTTHUMT00000256301.2	-	0.00	21	0	T	NM_138999		70532913	-1	tier1	-	no_errors	ENST00000580049	ensembl	human	known	74_37	rna	33.33	22	11	SNP	0.000	G
NFASC	23114	genome.wustl.edu	37	1	204971813	204971813	+	Missense_Mutation	SNP	C	C	G	rs370375266		TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr1:204971813C>G	ENST00000401399.1	+	26	3425	c.3226C>G	c.(3226-3228)Cgg>Ggg	p.R1076G	NFASC_ENST00000338586.6_Missense_Mutation_p.R1060G|NFASC_ENST00000338515.6_Intron|NFASC_ENST00000367169.4_Intron|NFASC_ENST00000539706.1_Intron|NFASC_ENST00000495396.1_3'UTR|NFASC_ENST00000339876.6_Missense_Mutation_p.R1076G|NFASC_ENST00000404076.1_Intron|NFASC_ENST00000367171.4_Missense_Mutation_p.R1168G|NFASC_ENST00000360049.4_Intron|NFASC_ENST00000513543.1_Intron|NFASC_ENST00000404907.1_Intron|NFASC_ENST00000367172.4_Missense_Mutation_p.R1183G|NFASC_ENST00000367170.4_Missense_Mutation_p.R1104G			O94856	NFASC_HUMAN	neurofascin	1183	Thr-rich.				axon guidance (GO:0007411)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|myelination (GO:0042552)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|synapse organization (GO:0050808)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|node of Ranvier (GO:0033268)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			ATACACGTTGCGGGTTTATTC	0.552																																																	0													79.0	74.0	75.0					1																	204971813		1568	3582	5150	SO:0001583	missense	0			AK027553	CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1	1q32.1	2013-02-11	2010-06-24		ENSG00000163531	ENSG00000163531		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	29866	protein-coding gene	gene with protein product		609145	"""neurofascin homolog (chicken)"""			1377696, 8672144	Standard	NM_015090		Approved	NRCAML, KIAA0756, FLJ46866, NF	uc001hbj.3	O94856	OTTHUMG00000151697	ENST00000401399.1:c.3226C>G	1.37:g.204971813C>G	ENSP00000385637:p.Arg1076Gly		B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.R1183G	ENST00000401399.1	37	c.3547	CCDS53460.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.69|14.69	2.609461|2.609461	0.46527|0.46527	.|.	.|.	ENSG00000163531|ENSG00000163531	ENST00000413225|ENST00000367172;ENST00000367171;ENST00000367170;ENST00000339876;ENST00000338586;ENST00000401399	.|T;T;T;T;T;T	.|0.60797	.|0.16;0.16;0.16;0.16;1.28;0.16	5.63|5.63	4.71|4.71	0.59529|0.59529	.|.	.|0.137390	.|0.32244	.|N	.|0.006371	T|T	0.70281|0.70281	0.3206|0.3206	M|M	0.79805|0.79805	2.47|2.47	0.80722|0.80722	D|D	1|1	.|B;D	.|0.53619	.|0.001;0.961	.|B;P	.|0.56343	.|0.004;0.796	T|T	0.73626|0.73626	-0.3923|-0.3923	5|10	.|0.62326	.|D	.|0.03	.|.	10.1993|10.1993	0.43073|0.43073	0.1381:0.7903:0.0:0.0716|0.1381:0.7903:0.0:0.0716	.|.	.|1060;1076	.|F8W8X7;O94856-9	.|.;.	G|G	122|1183;1168;1104;1076;1060;1076	.|ENSP00000356140:R1183G;ENSP00000356139:R1168G;ENSP00000356138:R1104G;ENSP00000344786:R1076G;ENSP00000343509:R1060G;ENSP00000385637:R1076G	.|ENSP00000343509:R1060G	A|R	+|+	2|1	0|2	NFASC|NFASC	203238436|203238436	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	1.000000|1.000000	0.99986|0.99986	2.815000|2.815000	0.48018|0.48018	1.356000|1.356000	0.45884|0.45884	0.655000|0.655000	0.94253|0.94253	GCG|CGG	NFASC	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000163531		0.552	NFASC-001	KNOWN	basic|CCDS	protein_coding	NFASC	HGNC	protein_coding	OTTHUMT00000131237.1	-	0.00	38	0	C	NM_001005388		204971813	+1	tier1	-	no_errors	ENST00000367172	ensembl	human	known	74_37	missense	32.35	46	22	SNP	1.000	G
NFATC2	4773	genome.wustl.edu	37	20	50140171	50140171	+	Silent	SNP	C	C	T			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr20:50140171C>T	ENST00000396009.3	-	2	828	c.609G>A	c.(607-609)ccG>ccA	p.P203P	NFATC2_ENST00000609507.1_Intron|NFATC2_ENST00000609943.1_Silent_p.P183P|NFATC2_ENST00000414705.1_Silent_p.P183P|NFATC2_ENST00000371564.3_Silent_p.P203P|NFATC2_ENST00000610033.1_Intron	NM_001258297.1|NM_173091.3	NP_001245226.1|NP_775114.1	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	203	3 X approximate SP repeats.				B cell receptor signaling pathway (GO:0050853)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|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 core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					TTTGAAACTGCGGACACAGGT	0.612																																																	0													47.0	55.0	52.0					20																	50140171		2203	4300	6503	SO:0001819	synonymous_variant	0			U43342, U43341	CCDS13437.1, CCDS33488.1, CCDS46614.1, CCDS68156.1, CCDS68157.1	20q13.2	2009-11-24			ENSG00000101096	ENSG00000101096		"""Nuclear factor of activated T-cells"""	7776	protein-coding gene	gene with protein product		600490				8202141	Standard	NM_012340		Approved	NF-ATP, NFATp, NFAT1	uc002xwd.4	Q13469	OTTHUMG00000032747	ENST00000396009.3:c.609G>A	20.37:g.50140171C>T			B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Silent	SNP	pfam_RHD,pfam_IPT,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT	p.P203	ENST00000396009.3	37	c.609	CCDS13437.1	20																																																																																			NFATC2	-	NULL	ENSG00000101096		0.612	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NFATC2	HGNC	protein_coding	OTTHUMT00000079730.2	-	0.00	92	0	C	NM_012340		50140171	-1	tier1	-	no_errors	ENST00000396009	ensembl	human	known	74_37	silent	48.39	62	60	SNP	0.148	T
NOD2	64127	genome.wustl.edu	37	16	50745399	50745399	+	Frame_Shift_Del	DEL	C	C	-			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr16:50745399delC	ENST00000300589.2	+	4	1682	c.1577delC	c.(1576-1578)accfs	p.T526fs	RP11-327F22.6_ENST00000602304.1_RNA	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	526	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of MAPK activity (GO:0000187)|activation of MAPK activity involved in innate immune response (GO:0035419)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|cytokine production involved in immune response (GO:0002367)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|detection of muramyl dipeptide (GO:0032498)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|innate immune response (GO:0045087)|innate immune response in mucosa (GO:0002227)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|macrophage inflammatory protein-1 alpha production (GO:0071608)|maintenance of gastrointestinal epithelium (GO:0030277)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-18 production (GO:0032701)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell mediated immunity (GO:0002710)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of tumor necrosis factor production (GO:0032720)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of B cell activation (GO:0050871)|positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria (GO:0006965)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell cytokine production (GO:0002732)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gamma-delta T cell activation (GO:0046645)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of prostaglandin-E synthase activity (GO:2000363)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type 2 immune response (GO:0002830)|protein oligomerization (GO:0051259)|regulation of inflammatory response (GO:0050727)|regulation of neutrophil chemotaxis (GO:0090022)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to muramyl dipeptide (GO:0032495)|response to nutrient (GO:0007584)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|enzyme binding (GO:0019899)|muramyl dipeptide binding (GO:0032500)|peptidoglycan binding (GO:0042834)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				CTGCATGCCACCCCCCCAGAC	0.617																																																	0													46.0	50.0	49.0					16																	50745399		2198	4299	6497	SO:0001589	frameshift_variant	0			AF178930	CCDS10746.1	16q12	2014-09-17	2006-12-08	2006-12-08	ENSG00000167207	ENSG00000167207		"""Nucleotide-binding domain and leucine rich repeat containing"""	5331	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2"", ""NOD-like receptor C2"", ""NLR family, CARD domain containing 2"""	605956	"""caspase recruitment domain family, member 15"""	IBD1, CARD15		7809109, 8587604	Standard	XM_005256084		Approved	BLAU, CD, PSORAS1, CLR16.3, NLRC2	uc002egm.1	Q9HC29	OTTHUMG00000133171	ENST00000300589.2:c.1577delC	16.37:g.50745399delC	ENSP00000300589:p.Thr526fs		E2JEQ6|Q96RH5|Q96RH6|Q96RH8	Frame_Shift_Del	DEL	pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD	p.P528fs	ENST00000300589.2	37	c.1577	CCDS10746.1	16																																																																																			NOD2	-	NULL	ENSG00000167207		0.617	NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOD2	HGNC	protein_coding	OTTHUMT00000256876.2		0.00	19	0	C	NM_022162		50745399	+1	tier1		no_errors	ENST00000300589	ensembl	human	known	74_37	frame_shift_del	6.45	29	2	DEL	0.928	-
NOP14	8602	genome.wustl.edu	37	4	2956223	2956223	+	Silent	SNP	G	G	A			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr4:2956223G>A	ENST00000314262.6	-	4	588	c.540C>T	c.(538-540)ggC>ggT	p.G180G	NOP14_ENST00000502735.1_Silent_p.G180G|NOP14_ENST00000416614.2_Silent_p.G180G|NOP14-AS1_ENST00000503709.1_RNA|NOP14_ENST00000398071.4_Silent_p.G180G	NM_003703.1	NP_003694.1	P78316	NOP14_HUMAN	NOP14 nucleolar protein	180					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462)|ribosomal small subunit biogenesis (GO:0042274)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|membrane (GO:0016020)|mitochondrion (GO:0005739)|Noc4p-Nop14p complex (GO:0030692)|nucleolus (GO:0005730)|nucleus (GO:0005634)|small-subunit processome (GO:0032040)	enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|snoRNA binding (GO:0030515)	p.G180G(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	30						CCCGCTCCTCGCCTTCCTGTT	0.527																																																	1	Substitution - coding silent(1)	endometrium(1)											125.0	118.0	120.0					4																	2956223		2203	4300	6503	SO:0001819	synonymous_variant	0			AB000467	CCDS33945.1	4p16.3	2012-12-10	2012-12-10	2008-10-13	ENSG00000087269	ENSG00000087269			16821	protein-coding gene	gene with protein product	"""NOP14 homolog (S. cerevisiae)"""	611526	"""chromosome 4 open reading frame 9"", ""nucleolar protein 14"", ""nucleolar protein 14 homolog (yeast)"", ""NOP14 nucleolar protein homolog (yeast)"""	C4orf9, NOL14		9734812, 11694595	Standard	XR_241655		Approved	RES4-25, UTP2	uc003ggj.1	P78316	OTTHUMG00000159911	ENST00000314262.6:c.540C>T	4.37:g.2956223G>A			D3DVR6|Q7LGI5|Q7Z6K0|Q8TBR6	Silent	SNP	pfam_Nop14	p.G180	ENST00000314262.6	37	c.540	CCDS33945.1	4																																																																																			NOP14	-	pfam_Nop14	ENSG00000087269		0.527	NOP14-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	NOP14	HGNC	protein_coding	OTTHUMT00000358135.2	-	0.00	43	0	G	NM_003703		2956223	-1	tier1	-	no_errors	ENST00000416614	ensembl	human	known	74_37	silent	86.27	7	44	SNP	0.503	A
NOTCH2NL	388677	genome.wustl.edu	37	1	145290438	145290438	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr1:145290438C>T	ENST00000344859.3	+	5	1006	c.644C>T	c.(643-645)cCa>cTa	p.P215L	RP11-458D21.5_ENST00000468030.1_Intron|NBPF10_ENST00000342960.5_5'Flank|NBPF10_ENST00000369339.3_5'UTR|NOTCH2NL_ENST00000479995.2_3'UTR|NBPF10_ENST00000369338.1_5'Flank			Q7Z3S9	NT2NL_HUMAN	notch 2 N-terminal like	0	EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|Notch signaling pathway (GO:0007219)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						GCAACATGGCCAATCTTTCCT	0.368																																																	0													356.0	357.0	357.0					1																	145290438		876	1991	2867	SO:0001583	missense	0				CCDS72880.1	1q21.2	2010-06-24	2010-06-24		ENSG00000213240	ENSG00000213240			31862	protein-coding gene	gene with protein product			"""Notch homolog 2 (Drosophila) N-terminal like"""			14673143	Standard	NM_203458		Approved	N2N	uc001emn.4	Q7Z3S9	OTTHUMG00000013754	ENST00000344859.3:c.644C>T	1.37:g.145290438C>T	ENSP00000344557:p.Pro215Leu		Q5BKT8|Q5VTG9|Q5XG84|Q6P192|Q8NC23|Q8WUQ9|Q96FY1	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom	p.P215L	ENST00000344859.3	37	c.644		1	.	.	.	.	.	.	.	.	.	.	.	4.705	0.131026	0.08981	.	.	ENSG00000213240	ENST00000344859	D	0.85171	-1.95	0.566	-0.614	0.11590	.	.	.	.	.	T	0.57460	0.2055	.	.	.	0.09310	N	0.999999	B	0.14438	0.01	B	0.12837	0.008	T	0.50171	-0.8859	7	0.87932	D	0	.	.	.	.	.	215	Q7Z3S9-2	.	L	215	ENSP00000344557:P215L	ENSP00000344557:P215L	P	+	2	0	NOTCH2NL	144001795	0.000000	0.05858	0.001000	0.08648	0.078000	0.17371	-0.040000	0.12104	-0.711000	0.04995	-1.296000	0.01341	CCA	NOTCH2NL	-	pfscan_EG-like_dom	ENSG00000213240		0.368	NOTCH2NL-001	KNOWN	basic|appris_candidate	protein_coding	NOTCH2NL	HGNC	protein_coding	OTTHUMT00000038544.1	-	0.00	176	0	C	NM_203458		145290438	+1	tier1	-	no_errors	ENST00000344859	ensembl	human	known	74_37	missense	6.58	227	16	SNP	0.001	T
NPAP1	23742	genome.wustl.edu	37	15	24922225	24922225	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr15:24922225C>T	ENST00000329468.2	+	1	1685	c.1211C>T	c.(1210-1212)cCt>cTt	p.P404L		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	404	Pro-rich.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											TTCTCCCAACCTGTGCAGACC	0.537																																																	0													70.0	73.0	72.0					15																	24922225		2203	4300	6503	SO:0001583	missense	0			AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.1211C>T	15.37:g.24922225C>T	ENSP00000333735:p.Pro404Leu			Missense_Mutation	SNP	NULL	p.P404L	ENST00000329468.2	37	c.1211	CCDS10015.1	15	.	.	.	.	.	.	.	.	.	.	.	11.64	1.698483	0.30142	.	.	ENSG00000185823	ENST00000329468	T	0.44083	0.93	2.07	-1.4	0.08968	.	1.631160	0.03977	N	0.292686	T	0.31482	0.0798	L	0.39898	1.24	0.09310	N	1	B	0.20052	0.041	B	0.20184	0.028	T	0.21586	-1.0241	10	0.49607	T	0.09	.	2.034	0.03535	0.2577:0.3953:0.0:0.347	.	404	Q9NZP6	CO002_HUMAN	L	404	ENSP00000333735:P404L	ENSP00000333735:P404L	P	+	2	0	C15orf2	22473318	0.001000	0.12720	0.000000	0.03702	0.029000	0.11900	0.134000	0.15932	-0.355000	0.08199	0.313000	0.20887	CCT	NPAP1	-	NULL	ENSG00000185823		0.537	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPAP1	HGNC	protein_coding	OTTHUMT00000251253.1	-	0.00	49	0	C	NM_018958		24922225	+1	tier1	-	no_errors	ENST00000329468	ensembl	human	known	74_37	missense	8.70	42	4	SNP	0.000	T
NPC1L1	29881	genome.wustl.edu	37	7	44555412	44555412	+	Silent	SNP	G	G	T			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr7:44555412G>T	ENST00000289547.4	-	19	3922	c.3867C>A	c.(3865-3867)ctC>ctA	p.L1289L	NPC1L1_ENST00000546276.1_Silent_p.L1216L|NPC1L1_ENST00000381160.3_Silent_p.L1262L	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	1289					cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intestinal cholesterol absorption (GO:0030299)|lipoprotein metabolic process (GO:0042157)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)	brush border membrane (GO:0031526)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hedgehog receptor activity (GO:0008158)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)	p.L1289L(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	CCACGTAGCTGAGGATGACGG	0.547																																																	2	Substitution - coding silent(2)	cervix(1)|lung(1)											80.0	77.0	78.0					7																	44555412		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS5491.1, CCDS43575.1, CCDS75587.1	7p13	2012-11-15	2012-11-15		ENSG00000015520	ENSG00000015520			7898	protein-coding gene	gene with protein product		608010	"""NPC1 (Niemann-Pick disease, type C1, gene)-like 1"""			10783261	Standard	NM_013389		Approved		uc003tlb.3	Q9UHC9	OTTHUMG00000023691	ENST00000289547.4:c.3867C>A	7.37:g.44555412G>T			A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Silent	SNP	pfam_Patched,pfscan_SSD	p.L1289	ENST00000289547.4	37	c.3867	CCDS5491.1	7																																																																																			NPC1L1	-	pfam_Patched	ENSG00000015520		0.547	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	NPC1L1	HGNC	protein_coding	OTTHUMT00000251256.1		0.00	25	0	G	NM_013389		44555412	-1			no_errors	ENST00000289547	ensembl	human	known	74_37	silent	6.67	28	2	SNP	0.998	T
NR0B1	190	genome.wustl.edu	37	X	30327395	30327395	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chrX:30327395G>A	ENST00000378970.4	-	1	320	c.86C>T	c.(85-87)gCt>gTt	p.A29V	NR0B1_ENST00000453287.1_Missense_Mutation_p.A29V|NR0B1_ENST00000378963.1_5'Flank	NM_000475.4	NP_000466.2	P51843	NR0B1_HUMAN	nuclear receptor subfamily 0, group B, member 1	29	4 X 67 AA tandem repeats.				adrenal gland development (GO:0030325)|gene expression (GO:0010467)|gonad development (GO:0008406)|hypothalamus development (GO:0021854)|intracellular receptor signaling pathway (GO:0030522)|Leydig cell differentiation (GO:0033327)|male gonad development (GO:0008584)|male sex determination (GO:0030238)|negative regulation of cell differentiation (GO:0045596)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pituitary gland development (GO:0021983)|protein localization (GO:0008104)|response to immobilization stress (GO:0035902)|Sertoli cell differentiation (GO:0060008)|spermatogenesis (GO:0007283)|steroid biosynthetic process (GO:0006694)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)	AF-2 domain binding (GO:0050682)|DNA binding (GO:0003677)|DNA hairpin binding (GO:0032448)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|steroid hormone receptor binding (GO:0035258)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	24					Dexamethasone(DB01234)|Tretinoin(DB00755)	CGTCTCTGGAGCCTCAGGAGC	0.701																																																	0													10.0	10.0	10.0					X																	30327395		2049	4022	6071	SO:0001583	missense	0			S74720	CCDS14223.1	Xp21.3	2014-06-28			ENSG00000169297	ENSG00000169297		"""Nuclear hormone receptors"""	7960	protein-coding gene	gene with protein product		300473	"""dosage-sensitive sex reversal"""	AHC, DSS		1301166, 10412368	Standard	NM_000475		Approved	DAX1, AHCH	uc004dcf.4	P51843	OTTHUMG00000021323	ENST00000378970.4:c.86C>T	X.37:g.30327395G>A	ENSP00000368253:p.Ala29Val		Q96F69	Missense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt	p.A29V	ENST00000378970.4	37	c.86	CCDS14223.1	X	.	.	.	.	.	.	.	.	.	.	G	7.053	0.564780	0.13498	.	.	ENSG00000169297	ENST00000378970;ENST00000453287	D;D	0.97553	-3.55;-4.43	4.42	1.33	0.21861	.	0.494112	0.17192	N	0.183465	D	0.94463	0.8218	M	0.64404	1.975	0.09310	N	1	B	0.31989	0.35	B	0.34652	0.187	D	0.89734	0.3928	10	0.72032	D	0.01	-9.0085	4.0273	0.09693	0.1207:0.0:0.4502:0.4291	.	29	P51843	NR0B1_HUMAN	V	29	ENSP00000368253:A29V;ENSP00000396403:A29V	ENSP00000368253:A29V	A	-	2	0	NR0B1	30237316	0.043000	0.20138	0.178000	0.23040	0.017000	0.09413	0.219000	0.17641	0.391000	0.25143	0.513000	0.50165	GCT	NR0B1	-	NULL	ENSG00000169297		0.701	NR0B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR0B1	HGNC	protein_coding	OTTHUMT00000056161.1	-	0.00	11	0	G	NM_000475		30327395	-1	tier1	-	no_errors	ENST00000378970	ensembl	human	known	74_37	missense	81.82	2	9	SNP	0.004	A
NR1D1	9572	genome.wustl.edu	37	17	38253456	38253456	+	Missense_Mutation	SNP	C	C	A			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr17:38253456C>A	ENST00000246672.3	-	2	862	c.232G>T	c.(232-234)Gac>Tac	p.D78Y		NM_021724.3	NP_068370.1	P20393	NR1D1_HUMAN	nuclear receptor subfamily 1, group D, member 1	78	Crucial for activation of GJA1. {ECO:0000250}.|Modulating.				cell differentiation (GO:0030154)|cellular response to lipopolysaccharide (GO:0071222)|circadian regulation of gene expression (GO:0032922)|circadian temperature homeostasis (GO:0060086)|gene expression (GO:0010467)|glycogen biosynthetic process (GO:0005978)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of receptor biosynthetic process (GO:0010871)|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)|positive regulation of bile acid biosynthetic process (GO:0070859)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasomal protein catabolic process (GO:0010498)|regulation of cholesterol homeostasis (GO:2000188)|regulation of circadian rhythm (GO:0042752)|regulation of fat cell differentiation (GO:0045598)|regulation of gluconeogenesis by regulation of transcription from RNA polymerase II promoter (GO:0035947)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of lipid metabolic process (GO:0019216)|regulation of type B pancreatic cell proliferation (GO:0061469)|response to leptin (GO:0044321)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|heme binding (GO:0020037)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|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)|steroid hormone receptor activity (GO:0003707)|transcription corepressor activity (GO:0003714)|transcription corepressor binding (GO:0001222)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(5)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	11	Colorectal(19;0.000442)					ggggagCCGTCATCACTCAGG	0.607																																																	0													76.0	77.0	77.0					17																	38253456		2203	4300	6503	SO:0001583	missense	0			X72631	CCDS11361.1	17q11.2	2013-01-16			ENSG00000126368	ENSG00000126368		"""Nuclear hormone receptors"""	7962	protein-coding gene	gene with protein product		602408		THRAL		1971514	Standard	NM_021724		Approved	ear-1, hRev, Rev-ErbAalpha, THRA1	uc002htz.3	P20393	OTTHUMG00000133327	ENST00000246672.3:c.232G>T	17.37:g.38253456C>A	ENSP00000246672:p.Asp78Tyr		Q0P5Z4|Q15304	Missense_Mutation	SNP	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.D78Y	ENST00000246672.3	37	c.232	CCDS11361.1	17	.	.	.	.	.	.	.	.	.	.	C	11.88	1.770364	0.31320	.	.	ENSG00000126368	ENST00000246672	D	0.90900	-2.75	4.96	4.96	0.65561	.	0.295538	0.28883	N	0.013840	D	0.82467	0.5043	N	0.14661	0.345	0.23581	N	0.997366	P	0.52316	0.952	B	0.42692	0.395	T	0.77728	-0.2479	10	0.72032	D	0.01	.	10.6842	0.45833	0.0:0.9113:0.0:0.0887	.	78	P20393	NR1D1_HUMAN	Y	78	ENSP00000246672:D78Y	ENSP00000246672:D78Y	D	-	1	0	NR1D1	35506982	0.954000	0.32549	0.670000	0.29842	0.338000	0.28826	4.546000	0.60705	2.582000	0.87167	0.462000	0.41574	GAC	NR1D1	-	NULL	ENSG00000126368		0.607	NR1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR1D1	HGNC	protein_coding	OTTHUMT00000257135.1	-	0.00	114	0	C			38253456	-1	tier1	-	no_errors	ENST00000246672	ensembl	human	known	74_37	missense	10.14	62	7	SNP	0.367	A
NRXN1	9378	genome.wustl.edu	37	2	51255171	51255171	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr2:51255171G>T	ENST00000406316.2	-	2	1717	c.241C>A	c.(241-243)Ctg>Atg	p.L81M	NRXN1_ENST00000404971.1_Missense_Mutation_p.L81M|NRXN1_ENST00000402717.3_Missense_Mutation_p.L81M|NRXN1_ENST00000406859.3_Missense_Mutation_p.L81M|NRXN1_ENST00000405472.3_Missense_Mutation_p.L81M|NRXN1_ENST00000405581.1_Missense_Mutation_p.L81M|NRXN1_ENST00000401669.2_Missense_Mutation_p.L81M	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	81	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GTCAGAATCAGCTCCAGGAAG	0.667																																																	0													14.0	19.0	18.0					2																	51255171		1996	4167	6163	SO:0001583	missense	0			AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.241C>A	2.37:g.51255171G>T	ENSP00000384311:p.Leu81Met		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G	p.L81M	ENST00000406316.2	37	c.241	CCDS54360.1	2	.	.	.	.	.	.	.	.	.	.	G	17.58	3.425557	0.62733	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859;ENST00000405581	D;D;D;D;D;D;D	0.87029	-2.2;-2.2;-2.2;-2.2;-2.2;-2.2;-2.2	4.97	4.97	0.65823	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.23038	U	0.052652	D	0.93651	0.7972	M	0.90542	3.125	0.29944	N	0.820823	D;D;B	0.89917	1.0;1.0;0.012	D;D;B	0.91635	0.995;0.999;0.015	D	0.90539	0.4501	10	0.87932	D	0	.	9.123	0.36799	0.1629:0.0:0.8371:0.0	.	81;81;81	Q9ULB1-3;F8WB18;Q9ULB1	.;.;NRX1A_HUMAN	M	81	ENSP00000385142:L81M;ENSP00000384311:L81M;ENSP00000434015:L81M;ENSP00000385017:L81M;ENSP00000385434:L81M;ENSP00000385681:L81M;ENSP00000385310:L81M	ENSP00000385017:L81M	L	-	1	2	NRXN1	51108675	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.735000	0.62051	2.293000	0.77203	0.563000	0.77884	CTG	NRXN1	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	ENSG00000179915		0.667	NRXN1-001	KNOWN	basic|CCDS	protein_coding	NRXN1	HGNC	protein_coding	OTTHUMT00000325291.2	-	0.00	10	0	G			51255171	-1	tier1	-	no_errors	ENST00000402717	ensembl	human	known	74_37	missense	33.33	10	5	SNP	1.000	T
NUP107	57122	genome.wustl.edu	37	12	69084420	69084420	+	Missense_Mutation	SNP	C	C	G			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr12:69084420C>G	ENST00000229179.4	+	4	529	c.197C>G	c.(196-198)aCa>aGa	p.T66R	NUP107_ENST00000378905.2_5'UTR|NUP107_ENST00000539906.1_Missense_Mutation_p.T37R	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	66					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)			GTTACCCCAACAAGCCGAAGC	0.408																																																	0													91.0	91.0	91.0					12																	69084420		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.197C>G	12.37:g.69084420C>G	ENSP00000229179:p.Thr66Arg		B4DZ67|Q6PJE1	Missense_Mutation	SNP	pfam_Nup84_Nup100	p.T66R	ENST00000229179.4	37	c.197	CCDS8985.1	12	.	.	.	.	.	.	.	.	.	.	C	0.387	-0.925315	0.02377	.	.	ENSG00000111581	ENST00000229179;ENST00000539906	.	.	.	5.57	-2.35	0.06684	.	0.748593	0.12586	N	0.455965	T	0.13798	0.0334	N	0.08118	0	0.09310	N	0.999997	B;B	0.16396	0.017;0.017	B;B	0.15484	0.013;0.007	T	0.27434	-1.0074	8	.	.	.	0.3372	5.1154	0.14831	0.2024:0.2708:0.0:0.5268	.	37;66	B4DZ67;P57740	.;NU107_HUMAN	R	66;37	.	.	T	+	2	0	NUP107	67370687	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.145000	0.16157	-0.106000	0.12110	-0.251000	0.11542	ACA	NUP107	-	NULL	ENSG00000111581		0.408	NUP107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP107	HGNC	protein_coding	OTTHUMT00000403195.1	-	0.00	46	0	C	NM_020401		69084420	+1	tier1	-	no_errors	ENST00000229179	ensembl	human	known	74_37	missense	30.88	47	21	SNP	0.001	G
NUTM2F	54754	genome.wustl.edu	37	9	97082712	97082712	+	Silent	SNP	C	C	T	rs397839742		TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr9:97082712C>T	ENST00000253262.4	-	5	1166	c.1146G>A	c.(1144-1146)gcG>gcA	p.A382A	NUTM2F_ENST00000335456.7_Silent_p.A367A|NUTM2F_ENST00000341207.4_Silent_p.A367A	NM_017561.1	NP_060031.1	A1L443	NTM2F_HUMAN	NUT family member 2F	382	Pro-rich.																CCTTGGTCTCCGCTGGCCTCT	0.677													.|||	1	0.000199681	0.0	0.0	5008	,	,		15666	0.001		0.0	False		,,,				2504	0.0																0													49.0	60.0	56.0					9																	97082712		1971	4139	6110	SO:0001819	synonymous_variant	0				CCDS47994.1	9q22.32	2013-05-02	2013-03-14	2013-05-02	ENSG00000130950	ENSG00000130950			23450	protein-coding gene	gene with protein product			"""family with sequence similarity 22, member F"""	FAM22F			Standard	NM_017561		Approved	DKFZp434I1117		A1L443	OTTHUMG00000020260	ENST00000253262.4:c.1146G>A	9.37:g.97082712C>T			B6ZDF0|Q5SR58|Q5SR59|Q9UFB1	Silent	SNP	NULL	p.A382	ENST00000253262.4	37	c.1146	CCDS47994.1	9																																																																																			NUTM2F	-	NULL	ENSG00000130950		0.677	NUTM2F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NUTM2F	HGNC	protein_coding	OTTHUMT00000053173.2	-	0.00	389	0	C	NM_017561		97082712	-1	tier1	-	no_errors	ENST00000253262	ensembl	human	known	74_37	silent	55.17	221	272	SNP	0.024	T
OCA2	4948	genome.wustl.edu	37	15	28196953	28196953	+	Missense_Mutation	SNP	A	A	G			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr15:28196953A>G	ENST00000354638.3	-	18	2083	c.1928T>C	c.(1927-1929)gTc>gCc	p.V643A	OCA2_ENST00000382996.2_Missense_Mutation_p.V643A|OCA2_ENST00000353809.5_Missense_Mutation_p.V619A	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	643					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|spermatid development (GO:0007286)|tyrosine transport (GO:0015828)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome membrane (GO:0033162)	L-tyrosine transmembrane transporter activity (GO:0005302)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		AATGCCAGGGACAAACGAATT	0.438									Oculocutaneous Albinism																																								0													171.0	132.0	145.0					15																	28196953		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database			CCDS10020.1, CCDS73701.1	15q12	2013-01-08	2008-01-30		ENSG00000104044	ENSG00000104044			8101	protein-coding gene	gene with protein product	"""melanocyte-specific transporter protein"""	611409	"""oculocutaneous albinism II (pink-eye dilution (murine) homolog)"", ""eye color 3 (brown)"", ""eye color 2 (central brown)"", ""oculocutaneous albinism II (pink-eye dilution homolog, mouse)"""	D15S12, P, EYCL3, EYCL2			Standard	NM_000275		Approved	BEY2, EYCL, BEY, BEY1	uc001zbh.4	Q04671	OTTHUMG00000128871	ENST00000354638.3:c.1928T>C	15.37:g.28196953A>G	ENSP00000346659:p.Val643Ala		Q15211|Q15212|Q96EN1|Q9UMI5	Missense_Mutation	SNP	pfam_Cit_transptr-like_dom,pfam_Na/sul_symport,pfam_Arsenical_pump_ArsB,tigrfam_Arsenical_pump_ArsB	p.V643A	ENST00000354638.3	37	c.1928	CCDS10020.1	15	.	.	.	.	.	.	.	.	.	.	A	21.0	4.089315	0.76756	.	.	ENSG00000104044	ENST00000354638;ENST00000353809;ENST00000382996	D;D;T	0.92595	-3.07;-3.07;-1.38	5.37	5.37	0.77165	Divalent ion symporter (1);	0.064498	0.64402	D	0.000009	D	0.89213	0.6651	L	0.45581	1.43	0.44719	D	0.997715	B;B	0.29341	0.203;0.242	B;B	0.33196	0.061;0.159	D	0.86398	0.1740	10	0.29301	T	0.29	-18.5341	13.3316	0.60490	1.0:0.0:0.0:0.0	.	619;643	Q04671-2;Q04671	.;P_HUMAN	A	643;619;643	ENSP00000346659:V643A;ENSP00000261276:V619A;ENSP00000372457:V643A	ENSP00000261276:V619A	V	-	2	0	OCA2	25870548	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	8.215000	0.89762	2.036000	0.60181	0.533000	0.62120	GTC	OCA2	-	pfam_Cit_transptr-like_dom,pfam_Na/sul_symport,pfam_Arsenical_pump_ArsB,tigrfam_Arsenical_pump_ArsB	ENSG00000104044		0.438	OCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OCA2	HGNC	protein_coding	OTTHUMT00000250823.1	-	0.00	79	0	A	NM_000275		28196953	-1	tier1	-	no_errors	ENST00000354638	ensembl	human	known	74_37	missense	6.25	60	4	SNP	1.000	G
OR10G4	390264	genome.wustl.edu	37	11	123886648	123886648	+	Missense_Mutation	SNP	T	T	G	rs397832341	byFrequency	TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr11:123886648T>G	ENST00000320891.4	+	1	367	c.367T>G	c.(367-369)Ttg>Gtg	p.L123V		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	123						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		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;0.0401)		TGATCGCTACTTGGCCATCAG	0.567																																																	0																																										SO:0001583	missense	0			AB065757	CCDS31702.1	11q24.1	2012-08-09			ENSG00000254737	ENSG00000254737		"""GPCR / Class A : Olfactory receptors"""	14809	protein-coding gene	gene with protein product							Standard	NM_001004462		Approved		uc010sac.2	Q8NGN3	OTTHUMG00000165966	ENST00000320891.4:c.367T>G	11.37:g.123886648T>G	ENSP00000325076:p.Leu123Val		Q6IEW0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L123V	ENST00000320891.4	37	c.367	CCDS31702.1	11	.	.	.	.	.	.	.	.	.	.	t	1.406	-0.576724	0.03854	.	.	ENSG00000254737	ENST00000320891	T	0.02067	4.47	3.48	2.46	0.29980	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36555	N	0.002534	T	0.00552	0.0018	N	0.00327	-1.64	0.27919	N	0.938337	B	0.24651	0.108	B	0.27076	0.076	T	0.44050	-0.9353	10	0.02654	T	1	.	2.2181	0.03965	0.1526:0.503:0.1495:0.1949	.	123	Q8NGN3	O10G4_HUMAN	V	123	ENSP00000325076:L123V	ENSP00000325076:L123V	L	+	1	2	OR10G4	123391858	0.000000	0.05858	1.000000	0.80357	0.991000	0.79684	-1.495000	0.02294	0.823000	0.34589	-0.204000	0.12730	TTG	OR10G4	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000254737		0.567	OR10G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10G4	HGNC	protein_coding	OTTHUMT00000387268.1		0.00	53	0	T	NM_001004462		123886648	+1			no_errors	ENST00000320891	ensembl	human	known	74_37	missense	8.57	64	6	SNP	0.994	G
OR10G9	219870	genome.wustl.edu	37	11	123894086	123894086	+	Missense_Mutation	SNP	T	T	G	rs397832339	byFrequency	TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr11:123894086T>G	ENST00000375024.1	+	1	367	c.367T>G	c.(367-369)Ttg>Gtg	p.L123V		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9	123						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(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		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)		TGATCGCTACTTGGCCATCAG	0.557																																																	0													40.0	38.0	39.0					11																	123894086		2201	4282	6483	SO:0001583	missense	0			AB065756	CCDS31703.1	11q24.1	2012-08-09			ENSG00000236981	ENSG00000236981		"""GPCR / Class A : Olfactory receptors"""	15129	protein-coding gene	gene with protein product				OR10G10P			Standard	NM_001001953		Approved		uc010sad.2	Q8NGN4	OTTHUMG00000165967	ENST00000375024.1:c.367T>G	11.37:g.123894086T>G	ENSP00000364164:p.Leu123Val			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L123V	ENST00000375024.1	37	c.367	CCDS31703.1	11	.	.	.	.	.	.	.	.	.	.	C	0.075	-1.195170	0.01594	.	.	ENSG00000236981	ENST00000375024	T	0.02067	4.47	3.33	2.42	0.29668	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36665	N	0.002468	T	0.01029	0.0034	N	0.04148	-0.265	0.29353	N	0.865203	B	0.24651	0.108	B	0.27076	0.076	T	0.46400	-0.9194	10	0.02654	T	1	.	6.1506	0.20310	0.0:0.6509:0.1461:0.203	.	123	Q8NGN4	O10G9_HUMAN	V	123	ENSP00000364164:L123V	ENSP00000364164:L123V	L	+	1	2	OR10G9	123399296	0.000000	0.05858	1.000000	0.80357	0.981000	0.71138	-1.383000	0.02544	0.251000	0.21505	-0.716000	0.03619	TTG	OR10G9	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000236981		0.557	OR10G9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10G9	HGNC	protein_coding	OTTHUMT00000387269.1		0.00	59	0	T	NM_001001953		123894086	+1			no_errors	ENST00000375024	ensembl	human	known	74_37	missense	19.74	61	15	SNP	0.996	G
OR4Q3	441669	genome.wustl.edu	37	14	20215952	20215952	+	Missense_Mutation	SNP	C	C	A			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr14:20215952C>A	ENST00000331723.1	+	1	366	c.366C>A	c.(364-366)gaC>gaA	p.D122E		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	122						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGGCCTATGACAGGTATGTTG	0.502																																																	0													104.0	105.0	105.0					14																	20215952		2203	4299	6502	SO:0001583	missense	0			AF179768	CCDS32020.1	14p13	2012-08-09				ENSG00000182652		"""GPCR / Class A : Olfactory receptors"""	15426	protein-coding gene	gene with protein product				OR4Q4			Standard	NM_172194		Approved	C14orf13	uc010tkt.2	Q8NH05		ENST00000331723.1:c.366C>A	14.37:g.20215952C>A	ENSP00000330049:p.Asp122Glu		Q6IEX4	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.D122E	ENST00000331723.1	37	c.366	CCDS32020.1	14	.	.	.	.	.	.	.	.	.	.	.	14.85	2.658810	0.47467	.	.	ENSG00000182652	ENST00000331723	T	0.51817	0.69	4.36	-2.5	0.06384	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41396	U	0.000892	T	0.78220	0.4249	H	0.99726	4.73	0.28138	N	0.929921	D	0.89917	1.0	D	0.79784	0.993	T	0.71889	-0.4456	10	0.87932	D	0	.	10.364	0.44012	0.0:0.6374:0.0:0.3626	.	122	Q8NH05	OR4Q3_HUMAN	E	122	ENSP00000330049:D122E	ENSP00000330049:D122E	D	+	3	2	OR4Q3	19285792	0.001000	0.12720	0.995000	0.50966	0.612000	0.37316	-1.526000	0.02229	-0.333000	0.08476	-0.487000	0.04747	GAC	OR4Q3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000182652		0.502	OR4Q3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4Q3	HGNC	protein_coding	OTTHUMT00000409818.2	-	0.00	89	0	C			20215952	+1	tier1	-	no_errors	ENST00000331723	ensembl	human	known	74_37	missense	38.57	43	27	SNP	0.996	A
OR6K3	391114	genome.wustl.edu	37	1	158687308	158687308	+	Missense_Mutation	SNP	C	C	T	rs151330882	byFrequency	TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr1:158687308C>T	ENST00000368146.1	-	1	645	c.646G>A	c.(646-648)Gtg>Atg	p.V216M	OR6K3_ENST00000368145.1_Missense_Mutation_p.V200M			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	216			V -> M (found in a renal cell carcinoma sample; somatic mutation). {ECO:0000269|PubMed:21248752}.			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V216M(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					GCATGAATCACATCCTCAATC	0.468													C|||	29	0.00579073	0.0219	0.0	5008	,	,		23166	0.0		0.0	False		,,,				2504	0.0																1	Substitution - Missense(1)	kidney(1)						C	MET/VAL	75,4331	66.4+/-103.9	0,75,2128	158.0	150.0	153.0		598	3.9	0.8	1	dbSNP_134	153	1,8599	1.2+/-3.3	0,1,4299	yes	missense	OR6K3	NM_001005327.2	21	0,76,6427	TT,TC,CC		0.0116,1.7022,0.5843	probably-damaging	200/316	158687308	76,12930	2203	4300	6503	SO:0001583	missense	0			AB065633	CCDS30903.1, CCDS30903.2	1q23.1	2012-08-09			ENSG00000203757	ENSG00000203757		"""GPCR / Class A : Olfactory receptors"""	15030	protein-coding gene	gene with protein product							Standard	NM_001005327		Approved		uc021pbn.1	Q8NGY3	OTTHUMG00000022770	ENST00000368146.1:c.646G>A	1.37:g.158687308C>T	ENSP00000357128:p.Val216Met		Q5VUV0|Q6IFR5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V216M	ENST00000368146.1	37	c.646		1	7	0.003205128205128205	7	0.014227642276422764	0	0.0	0	0.0	0	0.0	C	17.66	3.443409	0.63067	0.017022	1.16E-4	ENSG00000203757	ENST00000368145;ENST00000368146	T;T	0.00220	8.52;8.52	3.92	3.92	0.45320	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00109	0.0003	N	0.13352	0.335	0.09310	N	1	D	0.60575	0.988	D	0.71414	0.973	T	0.54029	-0.8354	9	0.33940	T	0.23	.	9.1036	0.36685	0.0:0.8951:0.0:0.1049	.	216	Q8NGY3	OR6K3_HUMAN	M	200;216	ENSP00000357127:V200M;ENSP00000357128:V216M	ENSP00000357127:V200M	V	-	1	0	OR6K3	156953932	0.000000	0.05858	0.818000	0.32626	0.728000	0.41692	0.087000	0.14958	2.157000	0.67596	0.467000	0.42956	GTG	OR6K3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000203757		0.468	OR6K3-201	KNOWN	basic	protein_coding	OR6K3	HGNC	protein_coding			0.00	32	0	C			158687308	-1			no_errors	ENST00000368146	ensembl	human	known	74_37	missense	6.67	28	2	SNP	0.001	T
OR6V1	346517	genome.wustl.edu	37	7	142749864	142749864	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr7:142749864G>A	ENST00000418316.1	+	1	448	c.427G>A	c.(427-429)Gct>Act	p.A143T		NM_001001667.1	NP_001001667.1	Q8N148	OR6V1_HUMAN	olfactory receptor, family 6, subfamily V, member 1	143						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					TGTCCAGCTGGCTGGGGCTGC	0.577																																																	0													70.0	76.0	74.0					7																	142749864		2124	4261	6385	SO:0001583	missense	0				CCDS47728.1	7q34	2014-05-06			ENSG00000225781	ENSG00000225781		"""GPCR / Class A : Olfactory receptors"""	15090	protein-coding gene	gene with protein product						12732197	Standard	NM_001001667		Approved	GPR138	uc011ksv.2	Q8N148	OTTHUMG00000158385	ENST00000418316.1:c.427G>A	7.37:g.142749864G>A	ENSP00000396085:p.Ala143Thr		A4D2I0|B9EH48|Q6IF70	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A143T	ENST00000418316.1	37	c.427	CCDS47728.1	7	.	.	.	.	.	.	.	.	.	.	G	14.47	2.544874	0.45280	.	.	ENSG00000225781	ENST00000418316	T	0.37752	1.18	4.15	3.25	0.37280	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.30510	0.0767	L	0.43701	1.375	0.22142	N	0.999331	B	0.26577	0.153	B	0.28849	0.095	T	0.30001	-0.9993	9	0.72032	D	0.01	.	6.6202	0.22798	0.2202:0.0:0.7798:0.0	.	143	Q8N148	OR6V1_HUMAN	T	143	ENSP00000396085:A143T	ENSP00000396085:A143T	A	+	1	0	OR6V1	142459986	0.518000	0.26234	0.988000	0.46212	0.973000	0.67179	0.755000	0.26405	0.930000	0.37217	0.655000	0.94253	GCT	OR6V1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000225781		0.577	OR6V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6V1	HGNC	protein_coding	OTTHUMT00000350860.1		0.00	38	0	G			142749864	+1			no_errors	ENST00000418316	ensembl	human	known	74_37	missense	10.81	33	4	SNP	0.973	A
OR7C2	26658	genome.wustl.edu	37	19	15052983	15052983	+	Missense_Mutation	SNP	T	T	C	rs78307433|rs3044711|rs397816267	byFrequency	TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr19:15052983T>C	ENST00000248072.3	+	1	683	c.683T>C	c.(682-684)gTa>gCa	p.V228A		NM_012377.1	NP_036509.1	O60412	OR7C2_HUMAN	olfactory receptor, family 7, subfamily C, member 2	228						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(3)|lung(8)|ovary(2)|skin(2)	15	Ovarian(108;0.203)					GTCCTAAGAGTATCTGCCAGA	0.468																																																	0													168.0	156.0	160.0					19																	15052983		2203	4300	6503	SO:0001583	missense	0			U86255	CCDS12320.1	19p13.1	2012-08-09				ENSG00000127529		"""GPCR / Class A : Olfactory receptors"""	8374	protein-coding gene	gene with protein product				OR7C3			Standard	NM_012377		Approved	OR19-18	uc010xoc.2	O60412		ENST00000248072.3:c.683T>C	19.37:g.15052983T>C	ENSP00000248072:p.Val228Ala		O43881|Q6IFP9	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V228A	ENST00000248072.3	37	c.683	CCDS12320.1	19	.	.	.	.	.	.	.	.	.	.	t	12.45	1.940332	0.34283	.	.	ENSG00000127529	ENST00000248072	T	0.00115	8.71	3.89	3.89	0.44902	GPCR, rhodopsin-like superfamily (1);	0.356137	0.19827	U	0.105170	T	0.00210	0.0006	L	0.56396	1.775	0.09310	N	1	B	0.25272	0.122	B	0.32980	0.156	T	0.22730	-1.0208	10	0.87932	D	0	.	10.9678	0.47422	0.0:0.0:0.0:1.0	.	228	O60412	OR7C2_HUMAN	A	228	ENSP00000248072:V228A	ENSP00000248072:V228A	V	+	2	0	OR7C2	14913983	0.075000	0.21258	0.003000	0.11579	0.004000	0.04260	1.824000	0.39072	1.770000	0.52166	0.421000	0.28195	GTA	OR7C2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000127529		0.468	OR7C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR7C2	HGNC	protein_coding	OTTHUMT00000466281.1		0.00	69	0	T			15052983	+1			no_errors	ENST00000248072	ensembl	human	known	74_37	missense	7.81	59	5	SNP	0.012	C
PAK1IP1	55003	genome.wustl.edu	37	6	10697578	10697578	+	Missense_Mutation	SNP	T	T	G			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr6:10697578T>G	ENST00000379568.3	+	2	397	c.106T>G	c.(106-108)Ttc>Gtc	p.F36V	C6orf52_ENST00000467832.2_5'Flank|C6orf52_ENST00000259983.3_5'Flank|C6orf52_ENST00000460742.2_5'Flank|C6orf52_ENST00000503680.1_5'Flank|C6orf52_ENST00000379586.1_5'Flank	NM_017906.2	NP_060376.2	Q9NWT1	PK1IP_HUMAN	PAK1 interacting protein 1	36					cell proliferation (GO:0008283)|negative regulation of signal transduction (GO:0009968)|palate development (GO:0060021)	nucleus (GO:0005634)|plasma membrane (GO:0005886)				kidney(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12	Ovarian(93;0.107)|Breast(50;0.137)	all_hematologic(90;0.117)				TGTGGCTGACTTCACTCACCA	0.423																																																	0													218.0	223.0	221.0					6																	10697578		2203	4300	6503	SO:0001583	missense	0			AF283303	CCDS34339.1	6p24.1	2013-05-21			ENSG00000111845	ENSG00000111845		"""WD repeat domain containing"""	20882	protein-coding gene	gene with protein product		607811				11371639	Standard	XM_005249204		Approved	FLJ20624, hPIP1, PIP1, bA421M1.5, MAK11, WDR84	uc003mzg.3	Q9NWT1	OTTHUMG00000014245	ENST00000379568.3:c.106T>G	6.37:g.10697578T>G	ENSP00000368887:p.Phe36Val		Q5T4J2|Q96QJ8|Q96T87	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.F36V	ENST00000379568.3	37	c.106	CCDS34339.1	6	.	.	.	.	.	.	.	.	.	.	T	24.7	4.565638	0.86439	.	.	ENSG00000111845	ENST00000379568	T	0.60797	0.16	5.15	5.15	0.70609	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.75206	0.3818	M	0.90759	3.145	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81250	-0.1018	10	0.72032	D	0.01	-12.8723	13.2287	0.59929	0.0:0.0:0.0:1.0	.	36	Q9NWT1	PK1IP_HUMAN	V	36	ENSP00000368887:F36V	ENSP00000368887:F36V	F	+	1	0	PAK1IP1	10805564	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	7.567000	0.82357	2.066000	0.61787	0.528000	0.53228	TTC	PAK1IP1	-	superfamily_WD40_repeat_dom,smart_WD40_repeat	ENSG00000111845		0.423	PAK1IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAK1IP1	HGNC	protein_coding	OTTHUMT00000039835.1	-	0.00	29	0	T	NM_017906		10697578	+1	tier1	-	no_errors	ENST00000379568	ensembl	human	known	74_37	missense	46.51	23	20	SNP	1.000	G
PANK3	79646	genome.wustl.edu	37	5	167993037	167993037	+	Missense_Mutation	SNP	T	T	C			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr5:167993037T>C	ENST00000239231.6	-	3	932	c.616A>G	c.(616-618)Aaa>Gaa	p.K206E	PANK3_ENST00000520504.1_5'UTR	NM_024594.3	NP_078870.1	Q9H999	PANK3_HUMAN	pantothenate kinase 3	206					coenzyme A biosynthetic process (GO:0015937)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			NS(1)|cervix(2)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	Renal(175;0.000159)|Lung NSC(126;0.0441)|all_lung(126;0.0909)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0989)|OV - Ovarian serous cystadenocarcinoma(192;0.147)|Epithelial(171;0.188)		GTCACTCGTTTATAGTTGTCT	0.378																																																	0													154.0	140.0	145.0					5																	167993037		2203	4300	6503	SO:0001583	missense	0			AK022961	CCDS4368.1	5q35.1	2008-02-05			ENSG00000120137	ENSG00000120137			19365	protein-coding gene	gene with protein product		606161				11479594	Standard	NM_024594		Approved	FLJ12899	uc003lzz.2	Q9H999	OTTHUMG00000130410	ENST00000239231.6:c.616A>G	5.37:g.167993037T>C	ENSP00000239231:p.Lys206Glu		D3DQL1|Q53FJ9|Q7RTX4	Missense_Mutation	SNP	pfam_Type_II_PanK,tigrfam_Type_II_PanK	p.K206E	ENST00000239231.6	37	c.616	CCDS4368.1	5	.	.	.	.	.	.	.	.	.	.	T	13.66	2.303688	0.40795	.	.	ENSG00000120137	ENST00000239231	D	0.99511	-6.05	4.94	4.94	0.65067	.	0.095522	0.85682	D	0.000000	D	0.96836	0.8967	N	0.17631	0.505	0.54753	D	0.999986	B	0.13594	0.008	B	0.13407	0.009	D	0.95460	0.8542	10	0.02654	T	1	-3.7162	13.8245	0.63342	0.0:0.0:0.0:1.0	.	206	Q9H999	PANK3_HUMAN	E	206	ENSP00000239231:K206E	ENSP00000239231:K206E	K	-	1	0	PANK3	167925615	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	8.040000	0.89188	1.843000	0.53566	0.472000	0.43445	AAA	PANK3	-	pfam_Type_II_PanK,tigrfam_Type_II_PanK	ENSG00000120137		0.378	PANK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PANK3	HGNC	protein_coding	OTTHUMT00000252793.2	-	0.00	53	0	T	NM_024594		167993037	-1	tier1	-	no_errors	ENST00000239231	ensembl	human	known	74_37	missense	10.26	35	4	SNP	1.000	C
PCDH17	27253	genome.wustl.edu	37	13	58299185	58299185	+	Silent	SNP	G	G	T			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr13:58299185G>T	ENST00000377918.3	+	4	3263	c.3237G>T	c.(3235-3237)ctG>ctT	p.L1079L		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	1079					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GTCAATATCTGTCACCTAGTA	0.532																																					Melanoma(72;952 1291 1619 12849 33676)												0													120.0	116.0	117.0					13																	58299185		2203	4300	6503	SO:0001819	synonymous_variant	0			AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.3237G>T	13.37:g.58299185G>T			A8K1R5|Q5VVW9|Q5VVX0	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L1079	ENST00000377918.3	37	c.3237	CCDS31986.1	13																																																																																			PCDH17	-	NULL	ENSG00000118946		0.532	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDH17	HGNC	protein_coding	OTTHUMT00000045139.1	-	0.00	41	0	G	NM_001040429		58299185	+1	tier1	-	no_errors	ENST00000377918	ensembl	human	known	74_37	silent	29.63	38	16	SNP	1.000	T
PCDHGC3	5098	genome.wustl.edu	37	5	140856511	140856511	+	Silent	SNP	C	C	T			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr5:140856511C>T	ENST00000308177.3	+	1	932	c.828C>T	c.(826-828)aaC>aaT	p.N276N	PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA9_ENST00000573521.1_Intron|RN7SL68P_ENST00000488078.2_RNA|PCDHGA11_ENST00000398587.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1	Q9UN70	PCDGK_HUMAN	protocadherin gamma subfamily C, 3	276	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGGCCCCAACGGTGAAATTA	0.592																																																	0													46.0	52.0	50.0					5																	140856511		2203	4300	6503	SO:0001819	synonymous_variant	0			AF152337	CCDS4261.1, CCDS75347.1, CCDS75348.1	5q31	2010-01-26			ENSG00000240184	ENSG00000240184		"""Cadherins / Protocadherins : Clustered"""	8716	other	protocadherin	"""cadherin-like 2"", ""protocadherin 2"", ""protocadherin 43"""	603627		PCDH2		9360932, 8508762	Standard	NM_032402		Approved	PC-43, PC43, PCDH-GAMMA-C3		Q9UN70	OTTHUMG00000129613	ENST00000308177.3:c.828C>T	5.37:g.140856511C>T			O60622|Q08192|Q9Y5C4	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.N276	ENST00000308177.3	37	c.828	CCDS4261.1	5																																																																																			PCDHGC3	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000240184		0.592	PCDHGC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGC3	HGNC	protein_coding	OTTHUMT00000251808.2	-	0.00	45	0	C	NM_002588		140856511	+1	tier1	-	no_errors	ENST00000308177	ensembl	human	known	74_37	silent	34.48	19	10	SNP	0.709	T
PEX6	5190	genome.wustl.edu	37	6	42933038	42933038	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr6:42933038G>T	ENST00000304611.8	-	14	2609	c.2540C>A	c.(2539-2541)gCc>gAc	p.A847D	PEX6_ENST00000244546.4_3'UTR	NM_000287.3	NP_000278.3	Q13608	PEX6_HUMAN	peroxisomal biogenesis factor 6	847					ATP catabolic process (GO:0006200)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix, translocation (GO:0016561)|protein stabilization (GO:0050821)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15			all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)			TCTGTTGGTGGCTCCAATCAC	0.587																																																	0													107.0	80.0	89.0					6																	42933038		2203	4300	6503	SO:0001583	missense	0			U56602	CCDS4877.1	6p22-p11	2010-04-21			ENSG00000124587	ENSG00000124587		"""ATPases / AAA-type"""	8859	protein-coding gene	gene with protein product		601498				8670792	Standard	NM_000287		Approved	PXAAA1, PAF-2	uc003otf.3	Q13608	OTTHUMG00000014713	ENST00000304611.8:c.2540C>A	6.37:g.42933038G>T	ENSP00000303511:p.Ala847Asp		Q5T8W1|Q8WYQ0|Q8WYQ1|Q8WYQ2|Q99476	Missense_Mutation	SNP	pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.A847D	ENST00000304611.8	37	c.2540	CCDS4877.1	6	.	.	.	.	.	.	.	.	.	.	G	34	5.398673	0.96030	.	.	ENSG00000124587	ENST00000304611	D	0.96041	-3.89	5.84	5.84	0.93424	ATPase, AAA-type, conserved site (1);ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.99007	0.9661	H	0.99273	4.495	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99232	1.0882	10	0.87932	D	0	-23.3945	19.7683	0.96352	0.0:0.0:1.0:0.0	.	847	Q13608	PEX6_HUMAN	D	847	ENSP00000303511:A847D	ENSP00000303511:A847D	A	-	2	0	PEX6	43041016	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.605000	0.98321	2.767000	0.95098	0.555000	0.69702	GCC	PEX6	-	pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase	ENSG00000124587		0.587	PEX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PEX6	HGNC	protein_coding	OTTHUMT00000040569.1		0.00	23	0	G	NM_000287		42933038	-1			no_errors	ENST00000304611	ensembl	human	known	74_37	missense	6.45	58	4	SNP	1.000	T
PIEZO1	9780	genome.wustl.edu	37	16	88800373	88800375	+	In_Frame_Del	DEL	TCC	TCC	-	rs572934641|rs59446030	byFrequency	TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	TCC	TCC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr16:88800373_88800375delTCC	ENST00000301015.9	-	17	2514_2516	c.2268_2270delGGA	c.(2266-2271)gaggac>gac	p.E756del	RP5-1142A6.2_ENST00000567968.1_RNA|RP5-1142A6.2_ENST00000440406.2_RNA	NM_001142864.2	NP_001136336.2	Q92508	PIEZ1_HUMAN	piezo-type mechanosensitive ion channel component 1	756					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|detection of mechanical stimulus (GO:0050982)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|positive regulation of integrin activation (GO:0033625)|regulation of membrane potential (GO:0042391)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|prostate(2)|skin(1)	10						GTCCCTGGAGtcctcctcctcct	0.685														256	0.0511182	0.1785	0.0187	5008	,	,		22177	0.001		0.001	False		,,,				2504	0.0051																0																																										SO:0001651	inframe_deletion	0			D87071	CCDS54058.1	16q24.3	2011-08-31	2011-08-31	2011-08-31	ENSG00000103335	ENSG00000103335			28993	protein-coding gene	gene with protein product		611184	"""family with sequence similarity 38, member A"""	FAM38A		20813920, 21056836, 21299953, 21696149	Standard	NM_001142864		Approved	KIAA0233	uc010vpb.2	Q92508	OTTHUMG00000156776	ENST00000301015.9:c.2268_2270delGGA	16.37:g.88800382_88800384delTCC	ENSP00000301015:p.Glu756del		A6NHT9|A7E2B7|Q0KKZ9	In_Frame_Del	DEL	pfam_Piezo	p.E756in_frame_del	ENST00000301015.9	37	c.2270_2268	CCDS54058.1	16																																																																																			PIEZO1	-	NULL	ENSG00000103335		0.685	PIEZO1-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	PIEZO1	HGNC	protein_coding	OTTHUMT00000345699.4		0.00	50	0	TCC	NM_014745		88800375	-1	tier1		no_errors	ENST00000301015	ensembl	human	novel	74_37	in_frame_del	11.90	37	5	DEL	0.000:0.000:0.000	-
PIK3C2B	5287	genome.wustl.edu	37	1	204433694	204433694	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr1:204433694G>T	ENST00000367187.3	-	5	1629	c.1073C>A	c.(1072-1074)aCt>aAt	p.T358N	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.T358N	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	358					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein kinase B signaling (GO:0043491)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|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)|lipid kinase activity (GO:0001727)|phosphatidylinositol binding (GO:0035091)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GACATAGCCAGTGAGGAAGTA	0.507																																																	0													116.0	113.0	114.0					1																	204433694		2203	4300	6503	SO:0001583	missense	0			Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	"""phosphoinositide-3-kinase, class 2, beta polypeptide"""			9144573, 9830063	Standard	NM_002646		Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.1073C>A	1.37:g.204433694G>T	ENSP00000356155:p.Thr358Asn		O95666|Q5SW99	Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,pfam_Phox,pfam_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,superfamily_Phox,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_dom,pfscan_C2_dom,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom	p.T358N	ENST00000367187.3	37	c.1073	CCDS1446.1	1	.	.	.	.	.	.	.	.	.	.	G	5.936	0.356693	0.11239	.	.	ENSG00000133056	ENST00000367187;ENST00000424712;ENST00000438854;ENST00000367184	T;T	0.61040	0.14;0.21	5.24	5.24	0.73138	.	0.522566	0.19634	N	0.109620	T	0.61515	0.2353	N	0.16790	0.44	0.38931	D	0.957949	P;D	0.71674	0.793;0.998	B;D	0.76071	0.377;0.987	T	0.59847	-0.7377	10	0.26408	T	0.33	.	16.7749	0.85548	0.0:0.0:1.0:0.0	.	358;358	F5GWN5;O00750	.;P3C2B_HUMAN	N	358;358;136;136	ENSP00000356155:T358N;ENSP00000400561:T358N	ENSP00000356152:T136N	T	-	2	0	PIK3C2B	202700317	1.000000	0.71417	0.907000	0.35723	0.032000	0.12392	5.467000	0.66737	2.723000	0.93209	0.655000	0.94253	ACT	PIK3C2B	-	NULL	ENSG00000133056		0.507	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3C2B	HGNC	protein_coding	OTTHUMT00000087965.1	-	0.00	50	0	G	NM_002646		204433694	-1	tier1	-	no_errors	ENST00000367187	ensembl	human	known	74_37	missense	5.33	71	4	SNP	0.990	T
PIK3C2G	5288	genome.wustl.edu	37	12	18552745	18552745	+	Missense_Mutation	SNP	C	C	G			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr12:18552745C>G	ENST00000266497.5	+	14	2194	c.2156C>G	c.(2155-2157)tCt>tGt	p.S719C	PIK3C2G_ENST00000433979.1_Missense_Mutation_p.S719C|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.S760C			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	719	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				chemotaxis (GO:0006935)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|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)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol phosphate kinase activity (GO:0016307)			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				TGGACATTTTCTCAACCTTTA	0.413																																																	0													73.0	71.0	72.0					12																	18552745		1843	4090	5933	SO:0001583	missense	0			AJ000008	CCDS44839.1, CCDS73452.1	12p12	2012-07-13	2012-07-13		ENSG00000139144	ENSG00000139144	2.7.1.154		8973	protein-coding gene	gene with protein product		609001	"""phosphoinositide-3-kinase, class 2, gamma polypeptide"""			9878262	Standard	XM_005253393		Approved		uc001rdt.3	O75747	OTTHUMG00000168841	ENST00000266497.5:c.2156C>G	12.37:g.18552745C>G	ENSP00000266497:p.Ser719Cys		A1L3U0	Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_Phox,pfam_PI3K_Ras-bd_dom,pfam_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,superfamily_Phox,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_dom,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom	p.S760C	ENST00000266497.5	37	c.2279	CCDS44839.1	12	.	.	.	.	.	.	.	.	.	.	C	15.22	2.767735	0.49574	.	.	ENSG00000139144	ENST00000433979;ENST00000266497;ENST00000538779	T;T;T	0.62941	-0.01;-0.01;-0.01	5.08	3.11	0.35812	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.176676	0.39341	N	0.001390	T	0.69540	0.3122	L	0.44542	1.39	0.34538	D	0.709927	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.77557	0.99;0.983;0.99	T	0.77915	-0.2409	10	0.66056	D	0.02	-8.2506	11.044	0.47849	0.0:0.8249:0.0:0.1751	.	759;760;719	B7ZLY6;F5H369;O75747	.;.;P3C2G_HUMAN	C	719;719;760	ENSP00000404845:S719C;ENSP00000266497:S719C;ENSP00000445381:S760C	ENSP00000266497:S719C	S	+	2	0	PIK3C2G	18444012	1.000000	0.71417	0.936000	0.37596	0.784000	0.44337	3.282000	0.51693	1.373000	0.46208	0.585000	0.79938	TCT	PIK3C2G	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom	ENSG00000139144		0.413	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	PIK3C2G	HGNC	protein_coding	OTTHUMT00000401316.1	-	0.00	61	0	C	NM_004570		18552745	+1	tier1	-	no_errors	ENST00000538779	ensembl	human	known	74_37	missense	36.27	65	37	SNP	0.993	G
PIK3CD	5293	genome.wustl.edu	37	1	9777670	9777670	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr1:9777670G>T	ENST00000377346.4	+	8	1201	c.1006G>T	c.(1006-1008)Gac>Tac	p.D336Y	PIK3CD_ENST00000536656.1_Missense_Mutation_p.D301Y|PIK3CD_ENST00000543390.1_5'Flank|PIK3CD_ENST00000361110.2_Missense_Mutation_p.D301Y	NM_005026.3	NP_005017.3	O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	336	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|B cell chemotaxis (GO:0035754)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|cytokine production (GO:0001816)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell chemotaxis (GO:0002551)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|natural killer cell activation (GO:0030101)|natural killer cell chemotaxis (GO:0035747)|natural killer cell differentiation (GO:0001779)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|respiratory burst involved in defense response (GO:0002679)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|mast cell granule (GO:0042629)|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)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	Caffeine(DB00201)	AGTGAACGCCGACGAGCGGAT	0.607																																																	0													59.0	67.0	64.0					1																	9777670		2203	4300	6503	SO:0001583	missense	0				CCDS104.1	1p36.2	2014-09-17	2012-07-13		ENSG00000171608	ENSG00000171608	2.7.1.153		8977	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase, catalytic, delta polypeptide"", ""phosphoinositide-3-kinase C"""	602839	"""phosphoinositide-3-kinase, catalytic, delta polypeptide"""			9113989, 9455486	Standard	NM_005026		Approved	p110D	uc001aqb.4	O00329	OTTHUMG00000001450	ENST00000377346.4:c.1006G>T	1.37:g.9777670G>T	ENSP00000366563:p.Asp336Tyr		A6NCG0|G1FFP1|O15445|Q5SR49	Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,pfam_PI3K_Ras-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.D301Y	ENST00000377346.4	37	c.901	CCDS104.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.651548	0.96714	.	.	ENSG00000171608	ENST00000536656;ENST00000377346;ENST00000361110;ENST00000360563	T;T;T	0.70516	-0.49;-0.49;-0.49	5.66	5.66	0.87406	C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (1);	0.102621	0.64402	D	0.000005	T	0.78541	0.4299	L	0.49350	1.555	0.80722	D	1	B;D;B	0.65815	0.084;0.995;0.279	B;P;B	0.58266	0.088;0.836;0.204	T	0.78797	-0.2063	10	0.54805	T	0.06	-28.3633	17.9286	0.88991	0.0:0.0:1.0:0.0	.	336;301;336	B7ZM44;Q5SR50;O00329	.;.;PK3CD_HUMAN	Y	301;336;301;301	ENSP00000446444:D301Y;ENSP00000366563:D336Y;ENSP00000354410:D301Y	ENSP00000353766:D301Y	D	+	1	0	PIK3CD	9700257	1.000000	0.71417	0.173000	0.22940	0.980000	0.70556	9.411000	0.97342	2.668000	0.90789	0.655000	0.94253	GAC	PIK3CD	-	superfamily_C2_dom,smart_PI3K_C2_dom	ENSG00000171608		0.607	PIK3CD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3CD	HGNC	protein_coding	OTTHUMT00000004235.1	-	0.00	74	0	G	NM_005026		9777670	+1	tier1	-	no_errors	ENST00000536656	ensembl	human	known	74_37	missense	70.45	26	62	SNP	0.968	T
PIP4K2B	8396	genome.wustl.edu	37	17	36935757	36935757	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr17:36935757G>T	ENST00000269554.3	-	5	1013	c.533C>A	c.(532-534)aCg>aAg	p.T178K	PIP4K2B_ENST00000311500.6_5'UTR	NM_003559.4	NP_003550.1	P78356	PI42B_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, beta	178	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				cell surface receptor signaling pathway (GO:0007166)|intracellular signal transduction (GO:0035556)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|1-phosphatidylinositol-5-phosphate 4-kinase activity (GO:0016309)|ATP binding (GO:0005524)|receptor signaling protein activity (GO:0005057)	p.T178M(1)		endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)	19						TGGCAAAAGCGTGTTGCCATG	0.532																																																	1	Substitution - Missense(1)	endometrium(1)											127.0	90.0	103.0					17																	36935757		2203	4300	6503	SO:0001583	missense	0			U85245	CCDS11329.1	17q21.2	2007-08-14	2007-08-14	2007-08-14		ENSG00000276293	2.7.1.149		8998	protein-coding gene	gene with protein product		603261	"""phosphatidylinositol-4-phosphate 5-kinase, type II, beta"""	PIP5K2B		9038203, 14691457, 9367159	Standard	NM_003559		Approved	PIP5KIIB, PIP5KIIbeta	uc002hqs.3	P78356		ENST00000269554.3:c.533C>A	17.37:g.36935757G>T	ENSP00000269554:p.Thr178Lys		Q5U0E8|Q8TBP2	Missense_Mutation	SNP	pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub	p.T178K	ENST00000269554.3	37	c.533	CCDS11329.1	17	.	.	.	.	.	.	.	.	.	.	G	31	5.093339	0.94149	.	.	ENSG00000141720	ENST00000269554;ENST00000311500	T	0.52983	0.64	5.17	5.17	0.71159	Phosphatidylinositol-4-phosphate 5-kinase, core (2);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.81460	0.4827	H	0.98295	4.195	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.994	D;D;D	0.83275	0.996;0.996;0.976	D	0.88643	0.3177	10	0.87932	D	0	-14.7027	17.3861	0.87416	0.0:0.0:1.0:0.0	.	178;178;178	C9JMM2;P78356-2;P78356	.;.;PI42B_HUMAN	K	178	ENSP00000269554:T178K	ENSP00000269554:T178K	T	-	2	0	PIP4K2B	34189283	1.000000	0.71417	0.995000	0.50966	0.938000	0.57974	9.259000	0.95561	2.684000	0.91462	0.655000	0.94253	ACG	PIP4K2B	-	pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub	ENSG00000141720		0.532	PIP4K2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIP4K2B	HGNC	protein_coding	OTTHUMT00000256791.1		0.00	34	0	G	NM_003559		36935757	-1			no_errors	ENST00000269554	ensembl	human	known	74_37	missense	6.00	47	3	SNP	1.000	T
PIP5KL1	138429	genome.wustl.edu	37	9	130691998	130691998	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr9:130691998G>A	ENST00000388747.4	-	2	241	c.197C>T	c.(196-198)gCc>gTc	p.A66V	PIP5KL1_ENST00000300432.3_5'Flank|PIP5KL1_ENST00000490773.1_5'Flank	NM_001135219.1	NP_001128691.1	Q5T9C9	PI5L1_HUMAN	phosphatidylinositol-4-phosphate 5-kinase-like 1	66	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.					cell projection (GO:0042995)|cytoplasm (GO:0005737)|membrane (GO:0016020)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1)	8						GACCTGGGTGGCAGCCCACAG	0.622																																																	0													25.0	26.0	26.0					9																	130691998		1566	3581	5147	SO:0001583	missense	0			BC042184	CCDS6885.1, CCDS48030.1	9q34.13	2008-02-05			ENSG00000167103	ENSG00000167103			28711	protein-coding gene	gene with protein product		612865				12477932	Standard	NM_001135219		Approved	bA203J24.5, MGC46424	uc011mao.2	Q5T9C9	OTTHUMG00000020719	ENST00000388747.4:c.197C>T	9.37:g.130691998G>A	ENSP00000373399:p.Ala66Val		Q8IVS3	Missense_Mutation	SNP	pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub	p.A66V	ENST00000388747.4	37	c.197	CCDS48030.1	9	.	.	.	.	.	.	.	.	.	.	G	34	5.303350	0.95601	.	.	ENSG00000167103	ENST00000388747	T	0.31769	1.48	5.19	5.19	0.71726	Phosphatidylinositol-4-phosphate 5-kinase, core (1);	0.068329	0.56097	D	0.000025	T	0.54935	0.1889	M	0.80332	2.49	0.80722	D	1	D	0.76494	0.999	D	0.64144	0.922	T	0.59716	-0.7402	10	0.59425	D	0.04	-25.79	14.197	0.65677	0.0:0.0:1.0:0.0	.	66	Q5T9C9	PI5L1_HUMAN	V	66	ENSP00000373399:A66V	ENSP00000373399:A66V	A	-	2	0	PIP5KL1	129731819	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.424000	0.90267	2.399000	0.81585	0.561000	0.74099	GCC	PIP5KL1	-	NULL	ENSG00000167103		0.622	PIP5KL1-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PIP5KL1	HGNC	protein_coding	OTTHUMT00000054289.2	-	0.00	39	0	G	NM_173492		130691998	-1	tier1	-	no_errors	ENST00000388747	ensembl	human	novel	74_37	missense	7.69	48	4	SNP	1.000	A
PLCB4	5332	genome.wustl.edu	37	20	9434087	9434087	+	Missense_Mutation	SNP	G	G	C			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr20:9434087G>C	ENST00000378493.1	+	29	2953	c.2938G>C	c.(2938-2940)Gag>Cag	p.E980Q	PLCB4_ENST00000414679.2_Missense_Mutation_p.E992Q|PLCB4_ENST00000378473.3_Missense_Mutation_p.E992Q|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378501.2_Missense_Mutation_p.E980Q|PLCB4_ENST00000278655.4_Missense_Mutation_p.E980Q|PLCB4_ENST00000334005.3_Missense_Mutation_p.E980Q			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	980					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						GAAAATCCTAGAGAAGGCAAT	0.388																																																	0													132.0	124.0	127.0					20																	9434087		2203	4300	6503	SO:0001583	missense	0				CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.2938G>C	20.37:g.9434087G>C	ENSP00000367754:p.Glu980Gln		B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Missense_Mutation	SNP	pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_PLC-beta_CS,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y	p.E980Q	ENST00000378493.1	37	c.2938	CCDS13105.1	20	.	.	.	.	.	.	.	.	.	.	G	17.97	3.517401	0.64634	.	.	ENSG00000101333	ENST00000334005;ENST00000378473;ENST00000278655;ENST00000378493;ENST00000378501;ENST00000414679	T;T;T;T;T;T	0.22336	2.16;2.17;1.96;1.96;2.16;1.99	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.30947	0.0781	N	0.16478	0.41	0.80722	D	1	P;P;D;P	0.57899	0.704;0.646;0.981;0.692	B;B;D;B	0.67900	0.343;0.29;0.954;0.366	T	0.05305	-1.0893	10	0.22706	T	0.39	.	19.9564	0.97221	0.0:0.0:1.0:0.0	.	992;827;980;980	E2QRH8;Q15147-2;Q15147;Q15147-4	.;.;PLCB4_HUMAN;.	Q	980;992;980;980;980;828	ENSP00000334105:E980Q;ENSP00000367734:E992Q;ENSP00000278655:E980Q;ENSP00000367754:E980Q;ENSP00000367762:E980Q;ENSP00000390616:E828Q	ENSP00000278655:E980Q	E	+	1	0	PLCB4	9382087	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.476000	0.97823	2.708000	0.92522	0.650000	0.86243	GAG	PLCB4	-	pirsf_PLC-beta	ENSG00000101333		0.388	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLCB4	HGNC	protein_coding	OTTHUMT00000077948.2	-	0.00	75	0	G			9434087	+1	tier1	-	no_errors	ENST00000334005	ensembl	human	known	74_37	missense	61.73	31	50	SNP	1.000	C
PNLIPRP1	5407	genome.wustl.edu	37	10	118351287	118351287	+	Silent	SNP	A	A	G			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr10:118351287A>G	ENST00000528052.1	+	3	125	c.54A>G	c.(52-54)aaA>aaG	p.K18K	PNLIPRP1_ENST00000358834.4_Silent_p.K18K|PNLIPRP1_ENST00000442761.1_Silent_p.K18K|PNLIPRP1_ENST00000534537.1_Silent_p.K18K|PNLIPRP1_ENST00000480870.2_3'UTR			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	18					lipid metabolic process (GO:0006629)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|triglyceride lipase activity (GO:0004806)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		CTGTAGGAAAAGAAGTTTGCT	0.532																																																	0													118.0	123.0	121.0					10																	118351287		2203	4300	6503	SO:0001819	synonymous_variant	0			BC025784	CCDS7595.1	10q26.12	2006-07-04			ENSG00000187021	ENSG00000187021			9156	protein-coding gene	gene with protein product		604422				1379598	Standard	NM_006229		Approved	PLRP1	uc001lco.1	P54315	OTTHUMG00000019109	ENST00000528052.1:c.54A>G	10.37:g.118351287A>G			Q68D83|Q68DR6|Q8TAU2|Q9BS82	Silent	SNP	pfam_Lipase_N,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pirsf_Lipoprotein_lipase_LIPH,pfscan_PLAT/LH2_dom,prints_Lipase_panc,prints_Lipase	p.K18	ENST00000528052.1	37	c.54	CCDS7595.1	10																																																																																			PNLIPRP1	-	pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH	ENSG00000187021		0.532	PNLIPRP1-011	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	PNLIPRP1	HGNC	protein_coding	OTTHUMT00000384633.1	-	0.00	27	0	A	NM_006229		118351287	+1	tier1	-	no_errors	ENST00000358834	ensembl	human	known	74_37	silent	57.50	17	23	SNP	0.057	G
POTEH	23784	genome.wustl.edu	37	22	16266948	16266948	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr22:16266948C>T	ENST00000343518.6	-	9	1552	c.1501G>A	c.(1501-1503)Gag>Aag	p.E501K		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	501										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TGTTCATTCTCAGTGTCAGGA	0.393																																																	0													2.0	1.0	1.0					22																	16266948		138	398	536	SO:0001583	missense	0			AY462874	CCDS74808.1	22q11.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000198062	ENSG00000198062		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	133	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 7"""	608913	"""actin, beta-like 1"", ""ANKRD26-like family C, member 3"""	ACTBL1, A26C3		10591208, 15276201, 21439273	Standard	NM_001136213		Approved	POTE22, CT104.7	uc010gqp.2	Q6S545	OTTHUMG00000140314	ENST00000343518.6:c.1501G>A	22.37:g.16266948C>T	ENSP00000340610:p.Glu501Lys		A2CEK4|A6NCI1|A9Z1W0	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.E501K	ENST00000343518.6	37	c.1501	CCDS46658.1	22	.	.	.	.	.	.	.	.	.	.	C	4.902	0.167597	0.09339	.	.	ENSG00000198062	ENST00000359587;ENST00000343518	T	0.30448	1.53	1.4	0.244	0.15507	.	.	.	.	.	T	0.36248	0.0960	L	0.32530	0.975	0.09310	N	1	D;B	0.76494	0.999;0.06	D;B	0.79784	0.993;0.017	T	0.18241	-1.0343	9	0.33940	T	0.23	.	5.3532	0.16047	0.0:0.6354:0.3646:0.0	.	501;464	Q6S545;A6NKF6	POTEH_HUMAN;.	K	464;501	ENSP00000340610:E501K	ENSP00000340610:E501K	E	-	1	0	POTEH	14646948	0.003000	0.15002	0.002000	0.10522	0.031000	0.12232	0.553000	0.23391	0.126000	0.18424	0.184000	0.17185	GAG	POTEH	-	NULL	ENSG00000198062		0.393	POTEH-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	POTEH	HGNC	protein_coding	OTTHUMT00000276918.4	-	0.00	415	0	C	NM_001136213		16266948	-1	tier1	-	no_errors	ENST00000343518	ensembl	human	known	74_37	missense	15.76	325	61	SNP	0.003	T
PPARGC1B	133522	genome.wustl.edu	37	5	149216457	149216459	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	GGA	GGA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr5:149216457_149216459delGGA	ENST00000309241.5	+	8	2471_2473	c.2439_2441delGGA	c.(2437-2442)ggggag>ggg	p.E818del	PPARGC1B_ENST00000360453.4_In_Frame_Del_p.E779del|PPARGC1B_ENST00000394320.3_In_Frame_Del_p.E818del|PPARGC1B_ENST00000403750.1_In_Frame_Del_p.E754del	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	818	Glu-rich.				actin filament organization (GO:0007015)|bone trabecula formation (GO:0060346)|cellular lipid metabolic process (GO:0044255)|cellular response to reactive oxygen species (GO:0034614)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone resorption (GO:0045780)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of phosphorylation (GO:0042327)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|transcription from mitochondrial promoter (GO:0006390)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AF-2 domain binding (GO:0050682)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|receptor activator activity (GO:0030546)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			aggaagaaggggaggaggaggag	0.606																																																	0																																										SO:0001651	inframe_deletion	0			AF468496	CCDS4298.1, CCDS54933.1, CCDS54934.1	5q33.1	2013-02-12	2006-10-17		ENSG00000155846	ENSG00000155846		"""RNA binding motif (RRM) containing"""	30022	protein-coding gene	gene with protein product		608886	"""peroxisome proliferative activated receptor, gamma, coactivator 1, beta"""			11793024, 11854298	Standard	NM_133263		Approved	PERC, PGC1B	uc003lrc.3	Q86YN6	OTTHUMG00000130055	ENST00000309241.5:c.2439_2441delGGA	5.37:g.149216466_149216468delGGA	ENSP00000312649:p.Glu818del		A2RUM8|A2RUN0|B3KVW0|Q86YN3|Q86YN4|Q86YN5|Q8N1N9|Q8TDE4|Q8TDE5	In_Frame_Del	DEL	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.E817in_frame_del	ENST00000309241.5	37	c.2439_2441	CCDS4298.1	5																																																																																			PPARGC1B	-	NULL	ENSG00000155846		0.606	PPARGC1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPARGC1B	HGNC	protein_coding	OTTHUMT00000252334.1		0.00	30	0	GGA	NM_133263		149216459	+1	tier1		no_errors	ENST00000309241	ensembl	human	known	74_37	in_frame_del	10.00	18	2	DEL	0.792:0.855:0.852	-
PPFIA2	8499	genome.wustl.edu	37	12	81655762	81655762	+	Silent	SNP	C	C	T			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr12:81655762C>T	ENST00000549396.1	-	32	3933	c.3773G>A	c.(3772-3774)tGa>tAa	p.*1258*	PPFIA2_ENST00000541570.2_Intron|PPFIA2_ENST00000541017.1_Silent_p.*444*|PPFIA2_ENST00000552948.1_Silent_p.*1237*|PPFIA2_ENST00000550584.2_Intron|PPFIA2_ENST00000333447.7_Intron|PPFIA2_ENST00000548586.1_Silent_p.*1252*|PPFIA2_ENST00000550359.2_Silent_p.*1105*|PPFIA2_ENST00000443686.3_Silent_p.*1153*|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000549325.1_Intron|PPFIA2_ENST00000407050.4_Silent_p.*1157*	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	0					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						AGTGGCTGGTCAACATGAGTA	0.428																																																	0													29.0	34.0	32.0					12																	81655762		1954	4154	6108	SO:0001819	synonymous_variant	0			AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9246	protein-coding gene	gene with protein product	"""Liprin-alpha2"""	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.3773G>A	12.37:g.81655762C>T			B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Silent	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.*1258	ENST00000549396.1	37	c.3773	CCDS55857.1	12																																																																																			PPFIA2	-	NULL	ENSG00000139220		0.428	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPFIA2	HGNC	protein_coding	OTTHUMT00000408030.1	-	0.00	25	0	C			81655762	-1	tier1	-	no_errors	ENST00000549396	ensembl	human	known	74_37	silent	26.53	36	13	SNP	1.000	T
PPP1R12B	4660	genome.wustl.edu	37	1	202407189	202407190	+	Intron	INS	-	-	T			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr1:202407189_202407190insT	ENST00000608999.1	+	10	1611				PPP1R12B_ENST00000356764.2_3'UTR|RP11-175B9.2_ENST00000602961.1_RNA|PPP1R12B_ENST00000336894.4_Intron|PPP1R12B_ENST00000480184.1_Frame_Shift_Ins_p.V499fs	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B						G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of catalytic activity (GO:0043085)|regulation of muscle contraction (GO:0006937)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	enzyme activator activity (GO:0008047)			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			TTCCAAGGCAGTTTTTTTTTTC	0.391																																																	0																																										SO:0001627	intron_variant	0			AB003062	CCDS1426.1, CCDS44294.1, CCDS44295.1, CCDS53458.1, CCDS53459.1, CCDS73005.1	1q32.1	2013-01-10	2011-10-04	2001-08-10	ENSG00000077157	ENSG00000077157		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	7619	protein-coding gene	gene with protein product	"""myosin phosphatase regulatory subunit"", ""myosin phosphatase, target subunit 2"""	603768	"""protein phosphatase 1, regulatory (inhibitor) subunit 12B"""	MYPT2		9570949	Standard	NM_002481		Approved	MGC87886, MGC131980, PP1bp55	uc001gya.2	O60237	OTTHUMG00000041393	ENST00000608999.1:c.1458+37->T	1.37:g.202407199_202407199dupT			A8MYF5|B7ZMN6|Q2TAI8|Q5T506|Q5VUK2|Q8N179|Q9HCB7|Q9HCB8	Frame_Shift_Ins	INS	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.F503fs	ENST00000608999.1	37	c.1495_1496	CCDS1426.1	1																																																																																			PPP1R12B	-	NULL	ENSG00000077157		0.391	PPP1R12B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPP1R12B	HGNC	protein_coding	OTTHUMT00000099166.3		0.00	35	0	-	NM_032105		202407190	+1	tier1		no_errors	ENST00000480184	ensembl	human	novel	74_37	frame_shift_ins	7.32	38	3	INS	0.085:0.041	T
PPP1R7	5510	genome.wustl.edu	37	2	242089933	242089933	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr2:242089933G>A	ENST00000234038.6	+	1	497	c.23G>A	c.(22-24)gGg>gAg	p.G8E	PASK_ENST00000358649.4_5'Flank|PASK_ENST00000405260.1_5'Flank|PPP1R7_ENST00000402734.1_Intron|PASK_ENST00000403638.3_5'Flank|PASK_ENST00000234040.4_5'Flank|PPP1R7_ENST00000406106.3_Missense_Mutation_p.G8E|PPP1R7_ENST00000272983.8_Missense_Mutation_p.G8E|PPP1R7_ENST00000407025.1_Missense_Mutation_p.G8E|PPP1R7_ENST00000401987.1_Missense_Mutation_p.G8E|PPP1R7_ENST00000404405.3_Missense_Mutation_p.G8E|PASK_ENST00000539818.1_5'Flank	NM_001282412.1|NM_001282413.1|NM_002712.1	NP_001269341.1|NP_001269342.1|NP_002703.1	Q15435	PP1R7_HUMAN	protein phosphatase 1, regulatory subunit 7	8					positive regulation of protein dephosphorylation (GO:0035307)|regulation of catalytic activity (GO:0050790)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	enzyme regulator activity (GO:0030234)|protein phosphatase type 1 regulator activity (GO:0008599)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)	23		all_cancers(19;6.1e-33)|all_epithelial(40;1.07e-13)|Breast(86;0.000141)|Renal(207;0.00528)|all_lung(227;0.0446)|Ovarian(221;0.104)|Lung NSC(271;0.115)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.92e-32)|all cancers(36;5.35e-29)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-14)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.24e-08)|BRCA - Breast invasive adenocarcinoma(100;3.56e-06)|Lung(119;0.000588)|LUSC - Lung squamous cell carcinoma(224;0.0048)|Colorectal(34;0.0137)|COAD - Colon adenocarcinoma(134;0.096)		CGCGGCGCGGGGCAGCAACAG	0.721																																					NSCLC(62;446 1299 5417 11238 27640)												0													16.0	20.0	19.0					2																	242089933		2191	4286	6477	SO:0001583	missense	0			AF067136	CCDS2546.1, CCDS63190.1, CCDS63192.1, CCDS63193.1, CCDS63194.1	2q37.3	2012-04-17	2011-10-04		ENSG00000115685	ENSG00000115685		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9295	protein-coding gene	gene with protein product		602877	"""protein phosphatase 1, regulatory (inhibitor) subunit 7"""			7498485, 7670491, 10231361	Standard	NM_001282413		Approved	sds22	uc002wat.1	Q15435	OTTHUMG00000133390	ENST00000234038.6:c.23G>A	2.37:g.242089933G>A	ENSP00000234038:p.Gly8Glu		B4DFD4|B5MCY6|Q9UQE5|Q9UQE6|Q9Y6K4	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_U2A'_phosphoprotein32A_C	p.G8E	ENST00000234038.6	37	c.23	CCDS2546.1	2	.	.	.	.	.	.	.	.	.	.	G	12.25	1.880182	0.33162	.	.	ENSG00000115685	ENST00000407025;ENST00000272983;ENST00000234038;ENST00000404405;ENST00000439916;ENST00000406106;ENST00000401987	T;T;T;T;T;T;T	0.52057	0.71;0.85;0.71;0.84;0.68;1.16;0.92	4.51	3.56	0.40772	.	0.134531	0.49916	D	0.000139	T	0.24851	0.0603	N	0.08118	0	0.39861	D	0.97338	B;B;B;B	0.33238	0.13;0.18;0.403;0.281	B;B;B;B	0.28305	0.056;0.025;0.088;0.041	T	0.17167	-1.0378	10	0.36615	T	0.2	-22.8604	11.5749	0.50856	0.0:0.0:0.822:0.1779	.	8;8;8;8	Q15435-2;Q15435;Q15435-3;B5MBZ8	.;PP1R7_HUMAN;.;.	E	8	ENSP00000385657:G8E;ENSP00000272983:G8E;ENSP00000234038:G8E;ENSP00000385498:G8E;ENSP00000409719:G8E;ENSP00000385022:G8E;ENSP00000385466:G8E	ENSP00000234038:G8E	G	+	2	0	PPP1R7	241738606	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.964000	0.49192	2.058000	0.61347	0.491000	0.48974	GGG	PPP1R7	-	NULL	ENSG00000115685		0.721	PPP1R7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R7	HGNC	protein_coding	OTTHUMT00000257244.4	-	0.00	44	0	G	NM_002712		242089933	+1	tier1	-	no_errors	ENST00000234038	ensembl	human	known	74_37	missense	48.21	29	27	SNP	1.000	A
PPP2R2D	55844	genome.wustl.edu	37	10	133761153	133761153	+	Missense_Mutation	SNP	G	G	T	rs76274320		TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr10:133761153G>T	ENST00000422256.2	+	6	742	c.257G>T	c.(256-258)gGt>gTt	p.G86V	PPP2R2D_ENST00000470416.1_3'UTR			Q66LE6	2ABD_HUMAN	protein phosphatase 2, regulatory subunit B, delta	313					exit from mitosis (GO:0010458)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(3)|large_intestine(3)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13		all_cancers(35;2.16e-12)|all_epithelial(44;2.77e-09)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Colorectal(31;0.0124)|Breast(234;0.023)|all_neural(114;0.0299)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.86e-05)|Epithelial(32;8.82e-05)|all cancers(32;0.000106)|BRCA - Breast invasive adenocarcinoma(275;0.21)		CTACCTGTCGGTGAAGGTGTG	0.517																																																	0													77.0	78.0	78.0					10																	133761153		2008	4195	6203	SO:0001583	missense	0			AF220046	CCDS73224.1	10q26.3	2013-01-10	2010-06-18		ENSG00000175470	ENSG00000175470		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	23732	protein-coding gene	gene with protein product	"""PP2A subunit B isoform delta"""	613992	"""protein phosphatase 2, regulatory subunit B, delta isoform"""			10819331	Standard	XM_005277927		Approved	MDS026	uc001lks.3	Q66LE6	OTTHUMG00000019277	ENST00000422256.2:c.257G>T	10.37:g.133761153G>T	ENSP00000406501:p.Gly86Val		A8KAK0|Q5SQJ2|Q9P1Y7	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55	p.V283L	ENST00000422256.2	37	c.847		10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.63|12.63	1.996946|1.996946	0.35226|0.35226	.|.	.|.	ENSG00000175470|ENSG00000175470	ENST00000422256|ENST00000455566	.|T	.|0.32988	.|1.43	3.07|3.07	3.07|3.07	0.35406|0.35406	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.17959|0.17959	0.0431|0.0431	.|.	.|.	.|.	0.49483|0.49483	D|D	0.99979|0.99979	.|B	.|0.15141	.|0.012	.|B	.|0.17098	.|0.017	T|T	0.05305|0.05305	-1.0893|-1.0893	5|9	0.72032|0.09590	D|T	0.01|0.72	-15.0156|-15.0156	14.9899|14.9899	0.71377|0.71377	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|314	.|Q66LE6	.|2ABD_HUMAN	V|L	86|283	.|ENSP00000399970:V283L	ENSP00000406501:G86V|ENSP00000399970:V283L	G|V	+|+	2|1	0|0	PPP2R2D|PPP2R2D	133611143|133611143	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.984000|0.984000	0.73092|0.73092	8.684000|8.684000	0.91242|0.91242	2.028000|2.028000	0.59812|0.59812	0.655000|0.655000	0.94253|0.94253	GGT|GTG	PPP2R2D	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55	ENSG00000175470		0.517	PPP2R2D-201	KNOWN	basic|appris_principal	protein_coding	PPP2R2D	HGNC	protein_coding		-	0.00	107	0	G	NM_018461		133761153	+1	tier1	-	no_errors	ENST00000455566	ensembl	human	known	74_37	missense	71.11	26	64	SNP	1.000	T
PRAMEF6	440561	genome.wustl.edu	37	1	13000963	13000963	+	Silent	SNP	G	G	A	rs200242081		TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr1:13000963G>A	ENST00000376189.1	-	3	819	c.720C>T	c.(718-720)tcC>tcT	p.S240S	PRAMEF6_ENST00000415464.2_Silent_p.S240S|PRAMEF6_ENST00000376192.5_Intron	NM_001010889.2	NP_001010889.1	Q5VXH4	PRAM6_HUMAN	PRAME family member 6	240					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(1)|kidney(1)|lung(5)|urinary_tract(2)	9	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CATCCATGTGGGAGAGAACGA	0.512																																																	0																																										SO:0001819	synonymous_variant	0				CCDS30594.1	1p36.21	2013-01-17				ENSG00000232423		"""-"""	30583	protein-coding gene	gene with protein product							Standard	NM_001010889		Approved		uc001auq.2	Q5VXH4	OTTHUMG00000001984	ENST00000376189.1:c.720C>T	1.37:g.13000963G>A			A0AUJ9	Silent	SNP	NULL	p.S240	ENST00000376189.1	37	c.720	CCDS30594.1	1																																																																																			PRAMEF6	-	NULL	ENSG00000232423		0.512	PRAMEF6-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRAMEF6	HGNC	protein_coding		-	0.00	11	0	G	NM_001010889		13000963	-1	tier1	rs200242081	no_errors	ENST00000355096	ensembl	human	known	74_37	silent	33.33	14	7	SNP	0.000	A
PRDM6	93166	genome.wustl.edu	37	5	122435415	122435415	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr5:122435415G>A	ENST00000407847.4	+	3	1073	c.659G>A	c.(658-660)cGc>cAc	p.R220H		NM_001136239.1	NP_001129711.1	Q9NQX0	PRDM6_HUMAN	PR domain containing 6	220					negative regulation of smooth muscle cell differentiation (GO:0051151)|negative regulation of transcription, DNA-templated (GO:0045892)|neurogenesis (GO:0022008)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	7						CACTCGCTGCGCCGGCTTGTG	0.706																																																	0													4.0	5.0	5.0					5																	122435415		673	1555	2228	SO:0001583	missense	0			AF272898	CCDS47259.1	5q21-q23	2013-01-08			ENSG00000061455	ENSG00000061455		"""Zinc fingers, C2H2-type"""	9350	protein-coding gene	gene with protein product							Standard	NM_001136239		Approved		uc003kti.3	Q9NQX0	OTTHUMG00000150469	ENST00000407847.4:c.659G>A	5.37:g.122435415G>A	ENSP00000384725:p.Arg220His		B5MCJ4|Q9NQW9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2	p.R220H	ENST00000407847.4	37	c.659	CCDS47259.1	5	.	.	.	.	.	.	.	.	.	.	G	36	5.745115	0.96882	.	.	ENSG00000061455	ENST00000407847	T	0.09255	3.0	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.24890	0.0604	L	0.29908	0.895	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	T	0.01118	-1.1446	10	0.72032	D	0.01	-36.1359	19.4923	0.95056	0.0:0.0:1.0:0.0	.	220	Q9NQX0	PRDM6_HUMAN	H	220	ENSP00000384725:R220H	ENSP00000384725:R220H	R	+	2	0	PRDM6	122463314	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.887000	0.92456	2.623000	0.88846	0.563000	0.77884	CGC	PRDM6	-	NULL	ENSG00000061455		0.706	PRDM6-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PRDM6	HGNC	protein_coding	OTTHUMT00000318226.2	-	0.00	37	0	G	XM_049619		122435415	+1	tier1	-	no_errors	ENST00000407847	ensembl	human	known	74_37	missense	10.26	35	4	SNP	1.000	A
PRKDC	5591	genome.wustl.edu	37	8	48866998	48866998	+	Silent	SNP	C	C	T			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr8:48866998C>T	ENST00000314191.2	-	5	464	c.408G>A	c.(406-408)caG>caA	p.Q136Q	PRKDC_ENST00000338368.3_Silent_p.Q136Q|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	136					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	TTCTAAAAGTCTGAAGTAACT	0.284								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)												0													21.0	19.0	19.0					8																	48866998		1747	3975	5722	SO:0001819	synonymous_variant	0				CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.408G>A	8.37:g.48866998C>T			P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Silent	SNP	pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.Q136	ENST00000314191.2	37	c.408		8																																																																																			PRKDC	-	superfamily_ARM-type_fold	ENSG00000253729		0.284	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	PRKDC	HGNC	protein_coding		-	0.00	98	0	C	NM_001081640		48866998	-1	tier1	-	no_errors	ENST00000314191	ensembl	human	known	74_37	silent	38.06	96	59	SNP	0.997	T
PRRC2C	23215	genome.wustl.edu	37	1	171482243	171482243	+	Silent	SNP	T	T	C			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr1:171482243T>C	ENST00000338920.4	+	3	453	c.216T>C	c.(214-216)ccT>ccC	p.P72P	PRRC2C_ENST00000426496.2_Silent_p.P72P|PRRC2C_ENST00000476522.1_3'UTR|PRRC2C_ENST00000367742.3_Silent_p.P74P|PRRC2C_ENST00000392078.3_Silent_p.P74P	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	72					hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)										GCAATGATCCTAATGTAAACA	0.423																																																	0													96.0	86.0	89.0					1																	171482243		2203	4300	6503	SO:0001819	synonymous_variant	0			AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"""BAT2 domain containing 1"", ""HLA-B associated transcript 2-like 2"""	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000338920.4:c.216T>C	1.37:g.171482243T>C			Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Silent	SNP	pfam_BAT2_N	p.P74	ENST00000338920.4	37	c.222	CCDS1296.2	1																																																																																			PRRC2C	-	pfam_BAT2_N	ENSG00000117523		0.423	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	PRRC2C	HGNC	protein_coding	OTTHUMT00000314826.4	-	0.00	51	0	T	NM_015172		171482243	+1	tier1	-	no_errors	ENST00000392078	ensembl	human	known	74_37	silent	24.59	46	15	SNP	1.000	C
PSMD12	5718	genome.wustl.edu	37	17	65346353	65346353	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr17:65346353C>T	ENST00000356126.3	-	4	504	c.397G>A	c.(397-399)Gaa>Aaa	p.E133K	PSMD12_ENST00000357146.4_Missense_Mutation_p.E113K|PSMD12_ENST00000581618.1_5'Flank	NM_002816.3	NP_002807.1	O00232	PSD12_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 12	133					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|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 process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)				breast(1)|large_intestine(4)|lung(6)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;2.38e-11)|all_epithelial(3;8.27e-13)					ACCTTGCCTTCGGTAACCATT	0.328																																																	0													76.0	70.0	72.0					17																	65346353		2203	4300	6503	SO:0001583	missense	0			AB003103	CCDS11669.1, CCDS11670.1	17q24.3	2008-05-22			ENSG00000197170	ENSG00000197170		"""Proteasome (prosome, macropain) subunits"""	9557	protein-coding gene	gene with protein product		604450				9426256	Standard	NM_002816		Approved	p55, Rpn5	uc002jfy.3	O00232	OTTHUMG00000140376	ENST00000356126.3:c.397G>A	17.37:g.65346353C>T	ENSP00000348442:p.Glu133Lys		A6NP15|Q53HA2|Q6P053	Missense_Mutation	SNP	pfam_PCI_dom,smart_PCI_dom	p.E133K	ENST00000356126.3	37	c.397	CCDS11669.1	17	.	.	.	.	.	.	.	.	.	.	C	19.48	3.836241	0.71373	.	.	ENSG00000197170	ENST00000356126;ENST00000357146	T;T	0.44083	0.93;0.93	4.86	4.86	0.63082	.	0.050770	0.85682	D	0.000000	T	0.38904	0.1058	L	0.56769	1.78	0.58432	D	0.999999	P;P	0.40875	0.516;0.731	B;B	0.32583	0.148;0.148	T	0.39800	-0.9596	10	0.38643	T	0.18	-12.5453	17.9728	0.89118	0.0:1.0:0.0:0.0	.	113;133	A6NP15;O00232	.;PSD12_HUMAN	K	133;113	ENSP00000348442:E133K;ENSP00000349667:E113K	ENSP00000348442:E133K	E	-	1	0	PSMD12	62776815	1.000000	0.71417	1.000000	0.80357	0.511000	0.34104	7.083000	0.76859	2.400000	0.81607	0.467000	0.42956	GAA	PSMD12	-	NULL	ENSG00000197170		0.328	PSMD12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMD12	HGNC	protein_coding	OTTHUMT00000277103.1		0.00	42	0	C	NM_002816, NM_174871		65346353	-1			no_errors	ENST00000356126	ensembl	human	known	74_37	missense	5.13	37	2	SNP	1.000	T
PSMF1	9491	genome.wustl.edu	37	20	1146974	1146974	+	3'UTR	SNP	T	T	A			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr20:1146974T>A	ENST00000335877.6	+	0	2242				PSMF1_ENST00000246015.4_3'UTR|PSMF1_ENST00000438768.2_3'UTR|PSMF1_ENST00000381898.4_3'UTR|PSMF1_ENST00000333082.3_3'UTR|PSMF1_ENST00000484891.1_3'UTR	NM_006814.3	NP_006805.2	Q92530	PSMF1_HUMAN	proteasome (prosome, macropain) inhibitor subunit 1 (PI31)						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|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 process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteasomal protein catabolic process (GO:1901799)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome core complex (GO:0005839)	endopeptidase inhibitor activity (GO:0004866)|proteasome binding (GO:0070628)			endometrium(1)|kidney(1)|large_intestine(3)|lung(8)	13						ggtagtcacttccgctctgca	0.507																																																	0																																										SO:0001624	3_prime_UTR_variant	0			D88378	CCDS13010.1	20p13	2008-07-02			ENSG00000125818	ENSG00000125818		"""Proteasome (prosome, macropain) subunits"""	9571	protein-coding gene	gene with protein product	"""proteasome inhibitor hP131 subunit"""					10363639	Standard	NM_006814		Approved	PI31	uc002wen.4	Q92530	OTTHUMG00000031656	ENST00000335877.6:c.*1250T>A	20.37:g.1146974T>A			A0AVQ9|D3DVW3|Q9H4I1	RNA	SNP	-	NULL	ENST00000335877.6	37	NULL	CCDS13010.1	20																																																																																			PSMF1	-	-	ENSG00000125818		0.507	PSMF1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMF1	HGNC	protein_coding	OTTHUMT00000077504.2	-	0.00	16	0	T	NM_178578		1146974	+1	tier1	-	no_errors	ENST00000418246	ensembl	human	known	74_37	rna	21.43	22	6	SNP	0.005	A
PTPRVP	148713	genome.wustl.edu	37	1	202158058	202158058	+	RNA	SNP	G	G	T			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr1:202158058G>T	ENST00000482597.1	+	0	3814					NR_002930.2				protein tyrosine phosphatase, receptor type, V, pseudogene																		TGAGTGCACCGTGGATGTCTT	0.637																																																	0																																												0			AJ629456		1q32.1	2013-09-26	2010-03-16	2010-03-16	ENSG00000243323	ENSG00000243323		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	13421	pseudogene	pseudogene				PTPRV		15358244	Standard	NR_002930		Approved	OST-PTP, ESP	uc009xaa.2		OTTHUMG00000040524		1.37:g.202158058G>T				RNA	SNP	-	NULL	ENST00000482597.1	37	NULL		1																																																																																			PTPRVP	-	-	ENSG00000243323		0.637	PTPRVP-003	KNOWN	basic	processed_transcript	PTPRVP	HGNC	pseudogene	OTTHUMT00000334021.1	-	0.00	72	0	G	XM_086287		202158058	+1	tier1	-	no_errors	ENST00000482597	ensembl	human	known	74_37	rna	5.71	66	4	SNP	0.422	T
RAB11B	9230	genome.wustl.edu	37	19	8468391	8468391	+	Silent	SNP	C	C	T			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr19:8468391C>T	ENST00000328024.6	+	5	824	c.606C>T	c.(604-606)ccC>ccT	p.P202P		NM_004218.3	NP_004209.2	Q15907	RB11B_HUMAN	RAB11B, member RAS oncogene family	202					cellular response to acidic pH (GO:0071468)|constitutive secretory pathway (GO:0045054)|establishment of protein localization to membrane (GO:0090150)|GTP catabolic process (GO:0006184)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|melanosome transport (GO:0032402)|receptor recycling (GO:0001881)|regulated secretory pathway (GO:0045055)|regulation of anion transport (GO:0044070)|regulation of endocytic recycling (GO:2001135)|regulation of protein localization to cell surface (GO:2000008)|retrograde transport, endosome to plasma membrane (GO:1990126)|small GTPase mediated signal transduction (GO:0007264)|transferrin transport (GO:0033572)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|phagocytic vesicle (GO:0045335)|recycling endosome (GO:0055037)|recycling endosome membrane (GO:0055038)|synaptic vesicle (GO:0008021)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)			large_intestine(2)|lung(1)|ovary(1)	4						GCGTGCCGCCCACCACGGACG	0.662																																																	0													120.0	104.0	110.0					19																	8468391		2203	4300	6503	SO:0001819	synonymous_variant	0			X79780	CCDS12201.1	19p13.2	2012-07-02			ENSG00000185236	ENSG00000185236		"""RAB, member RAS oncogene"""	9761	protein-coding gene	gene with protein product		604198				7811277	Standard	NM_004218		Approved	H-YPT3	uc002mju.4	Q15907		ENST00000328024.6:c.606C>T	19.37:g.8468391C>T			A5YM50|B2R7I4|B4DMK0|D6W671|Q2YDT2|Q5U0I1|Q6FHR0|Q6FI42|Q8NI07	Silent	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.P202	ENST00000328024.6	37	c.606	CCDS12201.1	19																																																																																			RAB11B	-	superfamily_P-loop_NTPase,smart_Ran_GTPase	ENSG00000185236		0.662	RAB11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB11B	HGNC	protein_coding	OTTHUMT00000460343.2	-	0.00	111	0	C	NM_004218		8468391	+1	tier1	-	no_errors	ENST00000328024	ensembl	human	known	74_37	silent	81.31	20	87	SNP	1.000	T
RASA1	5921	genome.wustl.edu	37	5	86564473	86564474	+	Frame_Shift_Ins	INS	-	-	C			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr5:86564473_86564474insC	ENST00000274376.6	+	1	769_770	c.205_206insC	c.(205-207)tcafs	p.S69fs	RASA1_ENST00000512763.1_5'Flank|RASA1_ENST00000456692.2_5'Flank|RASA1_ENST00000506290.1_5'Flank	NM_002890.2	NP_002881.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	69					blood vessel morphogenesis (GO:0048514)|embryo development (GO:0009790)|intracellular signal transduction (GO:0035556)|mitotic cytokinesis (GO:0000281)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of actin filament polymerization (GO:0030833)|regulation of cell shape (GO:0008360)|regulation of RNA metabolic process (GO:0051252)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|ruffle (GO:0001726)	glycoprotein binding (GO:0001948)|GTPase binding (GO:0051020)|potassium channel inhibitor activity (GO:0019870)|Ras GTPase activator activity (GO:0005099)|receptor binding (GO:0005102)			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		CGCTTTGGGGTCAGAGTTCCTA	0.683																																																	0																																										SO:0001589	frameshift_variant	0				CCDS34200.1, CCDS47243.1	5q13	2013-02-14			ENSG00000145715	ENSG00000145715		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	9871	protein-coding gene	gene with protein product	"""capillary malformation-arteriovenous malformation"""	139150		RASA		15917201	Standard	NM_022650		Approved	GAP, CM-AVM, p120GAP, p120RASGAP	uc003kiw.3	P20936	OTTHUMG00000162605	ENST00000274376.6:c.206dupC	5.37:g.86564474_86564474dupC	ENSP00000274376:p.Ser69fs		B2R6W3|Q9UDI1	Frame_Shift_Ins	INS	pfam_SH2,pfam_RasGAP,pfam_Pleckstrin_homology,pfam_SH3_domain,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_SH2,smart_SH3_domain,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_RasGAP,prints_SH2	p.E70fs	ENST00000274376.6	37	c.205_206	CCDS34200.1	5																																																																																			RASA1	-	NULL	ENSG00000145715		0.683	RASA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RASA1	HGNC	protein_coding	OTTHUMT00000369729.1		0.00	30	0	-	NM_002890		86564474	+1	tier1		no_errors	ENST00000274376	ensembl	human	known	74_37	frame_shift_ins	30.23	30	13	INS	0.187:0.178	C
RBL1	5933	genome.wustl.edu	37	20	35724277	35724277	+	Nonsense_Mutation	SNP	C	C	A			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr20:35724277C>A	ENST00000373664.3	-	1	121	c.55G>T	c.(55-57)Gag>Tag	p.E19*	RBL1_ENST00000344359.3_Nonsense_Mutation_p.E19*|RBL1_ENST00000598590.1_Missense_Mutation_p.S30Y	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1	19					chromatin modification (GO:0016568)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription factor binding (GO:0008134)			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				TGTAGCGCCTCCCCGGCTGCG	0.697																																																	0													21.0	19.0	20.0					20																	35724277		2202	4298	6500	SO:0001587	stop_gained	0			L14812	CCDS13289.1, CCDS13290.1	20q11.23	2014-03-11	2014-03-11		ENSG00000080839	ENSG00000080839			9893	protein-coding gene	gene with protein product		116957				1833063	Standard	NM_183404		Approved	p107, cp107, PRB1	uc002xgi.3	P28749	OTTHUMG00000032406	ENST00000373664.3:c.55G>T	20.37:g.35724277C>A	ENSP00000362768:p.Glu19*		A8K2W5|Q4VXA0|Q8N5K6|Q9H1L5|Q9H1M1	Nonsense_Mutation	SNP	pfam_RB_A,pfam_RB_B,pfam_RB_N,pfam_RB_C,superfamily_Cyclin-like,smart_Cyclin-like	p.E19*	ENST00000373664.3	37	c.55	CCDS13289.1	20	.	.	.	.	.	.	.	.	.	.	C	37	6.148865	0.97324	.	.	ENSG00000080839	ENST00000373664;ENST00000344359	.	.	.	4.72	2.67	0.31697	.	0.529318	0.21362	N	0.075797	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	-13.3682	9.1374	0.36883	0.0:0.7693:0.1472:0.0836	.	.	.	.	X	19	.	ENSP00000343646:E19X	E	-	1	0	RBL1	35157691	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	1.974000	0.40559	1.198000	0.43158	0.462000	0.41574	GAG	RBL1	-	NULL	ENSG00000080839		0.697	RBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBL1	HGNC	protein_coding	OTTHUMT00000079067.2	-	0.00	49	0	C	NM_002895		35724277	-1	tier1	-	no_errors	ENST00000373664	ensembl	human	known	74_37	nonsense	47.06	27	24	SNP	0.997	A
RECQL5	9400	genome.wustl.edu	37	17	73627067	73627067	+	Silent	SNP	T	T	C			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr17:73627067T>C	ENST00000317905.5	-	11	1731	c.1572A>G	c.(1570-1572)gaA>gaG	p.E524E	SMIM5_ENST00000375215.3_5'Flank|RECQL5_ENST00000443199.2_5'UTR|RECQL5_ENST00000423245.2_Silent_p.E497E	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5	524	Interaction with POLR2A.				chromosome separation (GO:0051304)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|mitotic nuclear division (GO:0007067)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA helicase activity (GO:0003678)|nucleic acid binding (GO:0003676)|RNA polymerase II core binding (GO:0000993)			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			GGGGTACAAATTCTTCTATCT	0.592								Other identified genes with known or suspected DNA repair function																																									0													38.0	42.0	40.0					17																	73627067		1866	4108	5974	SO:0001819	synonymous_variant	0			AB006533	CCDS32735.1, CCDS42380.1, CCDS45777.1	17q25	2014-03-07	2014-03-07	2014-03-07	ENSG00000108469	ENSG00000108469			9950	protein-coding gene	gene with protein product	"""RecQ protein 5"""	603781				9878247	Standard	NM_004259		Approved	RecQ5, FLJ90603	uc010dgl.3	O94762		ENST00000317905.5:c.1572A>G	17.37:g.73627067T>C			Q9H0B1|Q9P1W7|Q9UNC8	Silent	SNP	pfam_RecQ_helicase-like_5,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ	p.E524	ENST00000317905.5	37	c.1572	CCDS42380.1	17																																																																																			RECQL5	-	NULL	ENSG00000108469		0.592	RECQL5-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	RECQL5	HGNC	protein_coding	OTTHUMT00000448207.1	-	0.00	109	0	T	NM_004259		73627067	-1	tier1	-	no_errors	ENST00000317905	ensembl	human	known	74_37	silent	90.62	9	87	SNP	0.827	C
RFC5	5985	genome.wustl.edu	37	12	118463597	118463597	+	Silent	SNP	C	C	A			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr12:118463597C>A	ENST00000454402.2	+	7	745	c.627C>A	c.(625-627)tcC>tcA	p.S209S	RFC5_ENST00000392542.2_Silent_p.S188S|RFC5_ENST00000229043.3_Silent_p.S124S	NM_001206801.1|NM_007370.5	NP_001193730.1|NP_031396.1	P40937	RFC5_HUMAN	replication factor C (activator 1) 5, 36.5kDa	209					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	DNA replication factor C complex (GO:0005663)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(3)	9	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCACTCTTTCCAGTGGAGACA	0.413																																																	0													131.0	127.0	128.0					12																	118463597		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS9185.1, CCDS41843.2	12q24.3	2010-04-21	2002-08-29		ENSG00000111445	ENSG00000111445		"""ATPases / AAA-type"""	9973	protein-coding gene	gene with protein product		600407	"""replication factor C (activator 1) 5 (36.5kD)"""			7774928	Standard	NM_007370		Approved	RFC36	uc001twq.3	P40937	OTTHUMG00000156438	ENST00000454402.2:c.627C>A	12.37:g.118463597C>A			A8MZ62|B3KSX8	Silent	SNP	pfam_Rep_factorC_C_dom,pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_DUF815,superfamily_P-loop_NTPase,superfamily_DNA_pol3_clamp-load_cplx_C,smart_AAA+_ATPase	p.S209	ENST00000454402.2	37	c.627	CCDS9185.1	12																																																																																			RFC5	-	superfamily_P-loop_NTPase	ENSG00000111445		0.413	RFC5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RFC5	HGNC	protein_coding	OTTHUMT00000344196.2		0.00	48	0	C	NM_007370		118463597	+1			no_errors	ENST00000454402	ensembl	human	known	74_37	silent	5.17	55	3	SNP	1.000	A
RFX3	5991	genome.wustl.edu	37	9	3266289	3266289	+	Silent	SNP	G	G	A			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr9:3266289G>A	ENST00000382004.3	-	13	1685	c.1374C>T	c.(1372-1374)gcC>gcT	p.A458A	RFX3_ENST00000302303.1_Silent_p.A458A|RFX3_ENST00000358730.2_Silent_p.A458A	NM_001282116.1|NM_134428.1	NP_001269045.1|NP_602304.1	P48380	RFX3_HUMAN	regulatory factor X, 3 (influences HLA class II expression)	458					cell maturation (GO:0048469)|cilium assembly (GO:0042384)|cilium-dependent cell motility (GO:0060285)|endocrine pancreas development (GO:0031018)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type B pancreatic cell development (GO:2000078)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell maturation (GO:0072560)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		AATTTCGAATGGCTTGGGTCA	0.338																																																	0													87.0	85.0	86.0					9																	3266289		2203	4299	6502	SO:0001819	synonymous_variant	0			AI811824	CCDS6449.1, CCDS6450.1, CCDS75809.1	9p24.2	2008-02-05			ENSG00000080298	ENSG00000080298			9984	protein-coding gene	gene with protein product		601337				8289803	Standard	XM_005251534		Approved		uc003zhr.3	P48380	OTTHUMG00000019456	ENST00000382004.3:c.1374C>T	9.37:g.3266289G>A			A8K0H5|D3DRH8|D3DRH9|Q5JTL7|Q5JTL8|Q6NW13|Q8WTU4|Q95HL5|Q95HL6	Silent	SNP	pfam_RFX1_trans_act,pfam_DNA-bd_RFX	p.A458	ENST00000382004.3	37	c.1374	CCDS6449.1	9																																																																																			RFX3	-	NULL	ENSG00000080298		0.338	RFX3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	RFX3	HGNC	protein_coding	OTTHUMT00000051545.1	-	0.00	45	0	G	NM_002919		3266289	-1	tier1	-	no_errors	ENST00000382004	ensembl	human	known	74_37	silent	64.29	10	18	SNP	1.000	A
RGR	5995	genome.wustl.edu	37	10	86007670	86007670	+	Intron	SNP	C	C	T			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr10:86007670C>T	ENST00000359452.4	+	2	274				RGR_ENST00000358110.5_Intron|RGR_ENST00000372092.3_Intron	NM_001012720.1|NM_002921.3	NP_001012738.1|NP_002912.2	P47804	RGR_HUMAN	retinal G protein coupled receptor						chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)	chemokine receptor activity (GO:0004950)|G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	17						TTCTGAAGAACGACAGCTGAT	0.483																																					NSCLC(15;204 545 5889 6385 32445)												0																																										SO:0001627	intron_variant	0			BC011349	CCDS7374.1, CCDS41543.1	10q23	2013-02-14			ENSG00000148604	ENSG00000148604		"""GPCR / Class A : Opsin receptors"""	9990	protein-coding gene	gene with protein product	"""RGR-opsin"""	600342				8641686	Standard	NM_002921		Approved	RP44	uc001kdd.1	P47804	OTTHUMG00000018636	ENST00000359452.4:c.236+167C>T	10.37:g.86007670C>T			A6NKK7|Q96FC5	RNA	SNP	-	NULL	ENST00000359452.4	37	NULL	CCDS7374.1	10																																																																																			RGR	-	-	ENSG00000148604		0.483	RGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGR	HGNC	protein_coding	OTTHUMT00000049116.1	-	0.00	16	0	C	NM_002921		86007670	+1	tier1	-	no_errors	ENST00000469446	ensembl	human	known	74_37	rna	90.00	1	9	SNP	0.000	T
Unknown	0	genome.wustl.edu	37	GL000220.1	118086	118086	+	IGR	SNP	C	C	G			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chrGL000220.1:118086C>G								None (None upstream) : None (None downstream)																							acggcagcgccgcggagcctc	0.721																																																	0																																										SO:0001628	intergenic_variant	0																															GL000220.1.37:g.118086C>G				RNA	SNP	-	NULL		37	NULL		GL000220.1																																																																																			RNA28S5	-	-	ENSG00000266658	0	0.721					RNA28S5	HGNC			-	0.00	31	0	C			118086	+1	tier1	-	no_errors	ENST00000607521	ensembl	human	known	74_37	rna	38.46	16	10	SNP	NULL	G
ROR1	4919	genome.wustl.edu	37	1	64515405	64515405	+	Missense_Mutation	SNP	C	C	A			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr1:64515405C>A	ENST00000371079.1	+	3	581	c.206C>A	c.(205-207)aCg>aAg	p.T69K	ROR1_ENST00000371080.1_Missense_Mutation_p.T69K|ROR1_ENST00000482426.1_3'UTR	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	69	Ig-like C2-type.				peptidyl-tyrosine phosphorylation (GO:0018108)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)	p.T69M(2)		breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						AACATCACCACGTCTCTGGGC	0.547																																																	2	Substitution - Missense(2)	ovary(1)|breast(1)											139.0	134.0	136.0					1																	64515405		2203	4300	6503	SO:0001583	missense	0			M97675	CCDS626.1, CCDS41344.1	1p32-p31	2013-01-11			ENSG00000185483	ENSG00000185483		"""Immunoglobulin superfamily / I-set domain containing"""	10256	protein-coding gene	gene with protein product		602336		NTRKR1		1334494, 8875995	Standard	NM_001083592		Approved		uc001dbj.3	Q01973	OTTHUMG00000009022	ENST00000371079.1:c.206C>A	1.37:g.64515405C>A	ENSP00000360120:p.Thr69Lys		Q5VVX6|Q66K77|Q92776	Missense_Mutation	SNP	pirsf_Tyr_kinase_rcpt_ROR,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Kringle,pfam_Frizzled_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Kringle-like,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Kringle,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Frizzled_dom,pfscan_Kringle,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.T69K	ENST00000371079.1	37	c.206	CCDS626.1	1	.	.	.	.	.	.	.	.	.	.	C	12.19	1.862702	0.32884	.	.	ENSG00000185483	ENST00000371080;ENST00000371079;ENST00000544776	T;T	0.67698	-0.28;-0.28	5.8	5.8	0.92144	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.44285	D	0.000470	T	0.55178	0.1904	N	0.03881	-0.34	0.80722	D	1	B;D	0.64830	0.269;0.994	B;D	0.68353	0.155;0.957	T	0.62845	-0.6768	10	0.25751	T	0.34	.	20.062	0.97678	0.0:1.0:0.0:0.0	.	69;69	Q01973;Q66K77	ROR1_HUMAN;.	K	69;69;72	ENSP00000360121:T69K;ENSP00000360120:T69K	ENSP00000360120:T69K	T	+	2	0	ROR1	64287993	0.998000	0.40836	0.972000	0.41901	0.961000	0.63080	3.803000	0.55560	2.730000	0.93505	0.563000	0.77884	ACG	ROR1	-	pirsf_Tyr_kinase_rcpt_ROR,pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000185483		0.547	ROR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROR1	HGNC	protein_coding	OTTHUMT00000025002.1		0.00	59	0	C	NM_005012		64515405	+1			no_errors	ENST00000371079	ensembl	human	known	74_37	missense	7.69	36	3	SNP	1.000	A
ROR2	4920	genome.wustl.edu	37	9	94499701	94499701	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr9:94499701C>T	ENST00000375708.3	-	5	792	c.594G>A	c.(592-594)atG>atA	p.M198I	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Missense_Mutation_p.M58I	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	198	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|embryonic genitalia morphogenesis (GO:0030538)|inner ear morphogenesis (GO:0042472)|JNK cascade (GO:0007254)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	clathrin-coated endocytic vesicle membrane (GO:0030669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TCTCCCCCTGCATCTGAAGCG	0.542																																																	0													161.0	126.0	138.0					9																	94499701		2203	4300	6503	SO:0001583	missense	0			M97639	CCDS6691.1	9q22	2013-01-11			ENSG00000169071	ENSG00000169071		"""Immunoglobulin superfamily / I-set domain containing"""	10257	protein-coding gene	gene with protein product		602337		NTRKR2, BDB, BDB1		1334494, 10700182	Standard	NM_004560		Approved		uc004arj.2	Q01974	OTTHUMG00000020211	ENST00000375708.3:c.594G>A	9.37:g.94499701C>T	ENSP00000364860:p.Met198Ile		Q59GF5|Q5SPI5|Q9HAY7|Q9HB61	Missense_Mutation	SNP	pirsf_Tyr_kinase_rcpt_ROR,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Kringle,pfam_Frizzled_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Kringle-like,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Kringle,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Frizzled_dom,pfscan_Kringle,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.M198I	ENST00000375708.3	37	c.594	CCDS6691.1	9	.	.	.	.	.	.	.	.	.	.	C	28.2	4.902307	0.92035	.	.	ENSG00000169071	ENST00000375715;ENST00000375708	T;T	0.75589	0.66;-0.95	4.42	4.42	0.53409	Frizzled domain (2);	0.000000	0.51477	D	0.000097	D	0.82600	0.5072	L	0.50333	1.59	0.80722	D	1	P;D;P	0.54964	0.952;0.969;0.952	P;D;P	0.70227	0.786;0.968;0.786	T	0.83239	-0.0059	10	0.49607	T	0.09	.	17.587	0.87984	0.0:1.0:0.0:0.0	.	198;198;58	A1L4F5;Q01974;B1APY4	.;ROR2_HUMAN;.	I	58;198	ENSP00000364867:M58I;ENSP00000364860:M198I	ENSP00000364860:M198I	M	-	3	0	ROR2	93539522	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.518000	0.81795	2.431000	0.82371	0.655000	0.94253	ATG	ROR2	-	pirsf_Tyr_kinase_rcpt_ROR,pfam_Frizzled_dom,superfamily_Frizzled_dom,pfscan_Frizzled_dom	ENSG00000169071		0.542	ROR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROR2	HGNC	protein_coding	OTTHUMT00000053040.1	-	0.00	78	0	C			94499701	-1	tier1	-	no_errors	ENST00000375708	ensembl	human	known	74_37	missense	68.18	21	45	SNP	1.000	T
RREB1	6239	genome.wustl.edu	37	6	7230282	7230282	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr6:7230282G>T	ENST00000349384.6	+	10	2264	c.1950G>T	c.(1948-1950)caG>caT	p.Q650H	RREB1_ENST00000379933.3_Missense_Mutation_p.Q650H|RREB1_ENST00000334984.6_Missense_Mutation_p.Q650H|RREB1_ENST00000379938.2_Missense_Mutation_p.Q650H	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	650					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				TCTGCAACCAGGTGTTTGCCT	0.632																																																	0													36.0	35.0	35.0					6																	7230282		2203	4300	6503	SO:0001583	missense	0			U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"""Zinc fingers, C2H2-type"""	10449	protein-coding gene	gene with protein product	"""hindsight homolog (drosophila)"""	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.1950G>T	6.37:g.7230282G>T	ENSP00000305560:p.Gln650His		A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q650H	ENST00000349384.6	37	c.1950	CCDS34336.1	6	.	.	.	.	.	.	.	.	.	.	G	16.01	3.002664	0.54254	.	.	ENSG00000124782	ENST00000379933;ENST00000379938;ENST00000349384;ENST00000334984;ENST00000483150	T;T;T;T;T	0.15256	2.44;2.44;2.44;2.44;2.44	5.27	4.33	0.51752	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.56097	D	0.000027	T	0.22244	0.0536	L	0.33339	1.005	0.46241	D	0.998945	D;D;D	0.89917	0.998;0.997;1.0	D;D;D	0.83275	0.996;0.99;0.988	T	0.01045	-1.1470	10	0.87932	D	0	-53.4314	14.4798	0.67573	0.0807:0.0:0.9193:0.0	.	650;650;650	Q92766-3;Q92766;Q92766-2	.;RREB1_HUMAN;.	H	650	ENSP00000369265:Q650H;ENSP00000369270:Q650H;ENSP00000305560:Q650H;ENSP00000335574:Q650H;ENSP00000419511:Q650H	ENSP00000335574:Q650H	Q	+	3	2	RREB1	7175281	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.213000	0.42844	2.735000	0.93741	0.655000	0.94253	CAG	RREB1	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000124782		0.632	RREB1-002	KNOWN	basic|CCDS	protein_coding	RREB1	HGNC	protein_coding	OTTHUMT00000352985.1	-	0.00	80	0	G			7230282	+1	tier1	-	no_errors	ENST00000379938	ensembl	human	known	74_37	missense	6.02	78	5	SNP	1.000	T
SAMD3	154075	genome.wustl.edu	37	6	130536495	130536495	+	Intron	DEL	T	T	-	rs34071457|rs532851329|rs530501434|rs397887273|rs201491695	byFrequency	TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr6:130536495delT	ENST00000368134.2	-	5	588				SAMD3_ENST00000324172.6_5'Flank|SAMD3_ENST00000457563.2_Intron|SAMD3_ENST00000439090.2_Intron|SAMD3_ENST00000437477.2_Intron|SAMD3_ENST00000533296.1_5'UTR|SAMD3_ENST00000532763.1_Intron	NM_001258275.1	NP_001245204.1	Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3											breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		TGTGCCTTAATTTTTTTTTTA	0.343																																																	0																																										SO:0001627	intron_variant	0			AK091351	CCDS34539.1, CCDS64525.1	6q23.1	2013-01-10			ENSG00000164483	ENSG00000164483		"""Sterile alpha motif (SAM) domain containing"""	21574	protein-coding gene	gene with protein product							Standard	NM_001017373		Approved	bA73O6.2, FLJ34032	uc031spp.1	Q8N6K7	OTTHUMG00000015556	ENST00000368134.2:c.21-56A>-	6.37:g.130536495delT			B4DY20|E1P576|J3KQK4|Q4VXD8|Q8NAY1|Q8NB96	RNA	DEL	-	NULL	ENST00000368134.2	37	NULL	CCDS34539.1	6																																																																																			SAMD3	-	-	ENSG00000164483		0.343	SAMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMD3	HGNC	protein_coding	OTTHUMT00000042197.3		0.00	20	0	T	NM_152552		130536495	-1	tier1		no_errors	ENST00000533296	ensembl	human	known	74_37	rna	14.29	18	3	DEL	0.001	-
SCGB2A1	4246	genome.wustl.edu	37	11	61978031	61978031	+	Missense_Mutation	SNP	A	A	G			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr11:61978031A>G	ENST00000244930.4	+	2	266	c.202A>G	c.(202-204)Aac>Gac	p.N68D	RP11-703H8.9_ENST00000529875.1_RNA	NM_002407.2	NP_002398.1	O75556	SG2A1_HUMAN	secretoglobin, family 2A, member 1	68					androgen receptor signaling pathway (GO:0030521)	extracellular space (GO:0005615)	protein heterodimerization activity (GO:0046982)			breast(1)|kidney(1)|large_intestine(2)|lung(2)	6						GTGTTTCCTCAACCAGTCACA	0.423																																																	0													114.0	110.0	112.0					11																	61978031		2202	4299	6501	SO:0001583	missense	0			AF071219	CCDS8016.1	11q13	2011-12-14	2002-03-22	2002-03-22	ENSG00000124939	ENSG00000124939		"""Secretoglobins"""	7051	protein-coding gene	gene with protein product	"""lipophilin C"", ""mammaglobin B"", ""lacryglobin"""	604398	"""mammaglobin 2"""	MGB2		9806831, 22155607	Standard	NM_002407		Approved	UGB3, LPHC, MGC71973	uc001nta.2	O75556	OTTHUMG00000167506	ENST00000244930.4:c.202A>G	11.37:g.61978031A>G	ENSP00000244930:p.Asn68Asp			Missense_Mutation	SNP	pfam_Secretoglobin,superfamily_Secretoglobin	p.N68D	ENST00000244930.4	37	c.202	CCDS8016.1	11	.	.	.	.	.	.	.	.	.	.	A	0.021	-1.421026	0.01126	.	.	ENSG00000124939	ENST00000244930	T	0.13657	2.57	3.68	-1.65	0.08291	.	.	.	.	.	T	0.05456	0.0144	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.44375	-0.9332	8	0.13470	T	0.59	.	3.9128	0.09210	0.4006:0.3762:0.2231:0.0	.	68	O75556	SG2A1_HUMAN	D	68	ENSP00000244930:N68D	ENSP00000244930:N68D	N	+	1	0	SCGB2A1	61734607	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.210000	0.09345	-0.309000	0.08779	0.528000	0.53228	AAC	SCGB2A1	-	pfam_Secretoglobin,superfamily_Secretoglobin	ENSG00000124939		0.423	SCGB2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCGB2A1	HGNC	protein_coding	OTTHUMT00000394857.1	-	0.00	52	0	A	NM_002407		61978031	+1	tier1	-	no_errors	ENST00000244930	ensembl	human	known	74_37	missense	5.48	69	4	SNP	0.000	G
SEC24C	9632	genome.wustl.edu	37	10	75530546	75530546	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr10:75530546G>A	ENST00000339365.2	+	23	3296	c.3134G>A	c.(3133-3135)cGg>cAg	p.R1045Q	SEC24C_ENST00000345254.4_Missense_Mutation_p.R1045Q|FUT11_ENST00000372841.3_5'Flank|FUT11_ENST00000394790.1_5'Flank|SEC24C_ENST00000540668.1_Missense_Mutation_p.R293Q|SEC24C_ENST00000411652.2_Missense_Mutation_p.R926Q|SEC24C_ENST00000535742.1_Missense_Mutation_p.R293Q	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	1045					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					CAGAGATCCCGGTACATGAAG	0.468																																																	0													137.0	116.0	123.0					10																	75530546		2203	4300	6503	SO:0001583	missense	0			D38555	CCDS7332.1	10q22	2013-10-21	2013-10-21		ENSG00000176986	ENSG00000176986			10705	protein-coding gene	gene with protein product		607185	"""SEC24 (S. cerevisiae) related gene family, member C"", ""SEC24 family, member C (S. cerevisiae)"""			10214955, 7584044	Standard	NM_004922		Approved	KIAA0079	uc001jux.3	P53992	OTTHUMG00000018476	ENST00000339365.2:c.3134G>A	10.37:g.75530546G>A	ENSP00000343405:p.Arg1045Gln		B4DZT4|Q8WV25	Missense_Mutation	SNP	pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24	p.R1045Q	ENST00000339365.2	37	c.3134	CCDS7332.1	10	.	.	.	.	.	.	.	.	.	.	G	19.18	3.777374	0.70107	.	.	ENSG00000176986	ENST00000535742;ENST00000345254;ENST00000540668;ENST00000339365;ENST00000411652	T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	T	0.46889	0.1416	M	0.87682	2.9	0.80722	D	1	D;D	0.61080	0.989;0.976	P;P	0.49192	0.602;0.602	T	0.48281	-0.9049	10	0.30854	T	0.27	-9.429	13.1372	0.59415	0.1131:0.0:0.8869:0.0	.	926;1045	E7EP00;P53992	.;SC24C_HUMAN	Q	293;1045;293;1045;926	ENSP00000446174:R293Q;ENSP00000321845:R1045Q;ENSP00000445023:R293Q;ENSP00000343405:R1045Q;ENSP00000402913:R926Q	ENSP00000343405:R1045Q	R	+	2	0	SEC24C	75200552	0.995000	0.38212	0.995000	0.50966	0.998000	0.95712	4.213000	0.58520	2.857000	0.98124	0.650000	0.86243	CGG	SEC24C	-	NULL	ENSG00000176986		0.468	SEC24C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC24C	HGNC	protein_coding	OTTHUMT00000048679.1	-	0.00	40	0	G			75530546	+1	tier1	-	no_errors	ENST00000339365	ensembl	human	known	74_37	missense	16.42	56	11	SNP	0.999	A
SETDB2	83852	genome.wustl.edu	37	13	50034315	50034315	+	Missense_Mutation	SNP	A	A	T	rs138722347		TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr13:50034315A>T	ENST00000317257.8	+	3	914	c.89A>T	c.(88-90)aAt>aTt	p.N30I	SETDB2_ENST00000258672.5_Missense_Mutation_p.N30I|SETDB2_ENST00000354234.4_Missense_Mutation_p.N30I	NM_031915.2	NP_114121.2	Q96T68	SETB2_HUMAN	SET domain, bifurcated 2	30					chromosome segregation (GO:0007059)|heart looping (GO:0001947)|histone H3-K9 methylation (GO:0051567)|left/right axis specification (GO:0070986)|mitotic nuclear division (GO:0007067)|negative regulation of transcription, DNA-templated (GO:0045892)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	15		Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.1e-09)		CAAGTACAAAATGTGCTGCAG	0.328																																																	0													95.0	102.0	100.0					13																	50034315		2203	4300	6503	SO:0001583	missense	0			AF334407	CCDS9417.1, CCDS53868.1	13q14	2011-07-01	2003-05-06	2003-05-09	ENSG00000136169	ENSG00000136169		"""Chromatin-modifying enzymes / K-methyltransferases"""	20263	protein-coding gene	gene with protein product		607865	"""chromosome 13 open reading frame 4"""	C13orf4		11306461	Standard	NM_031915		Approved	CLLD8, CLLL8, KMT1F	uc001vda.3	Q96T68	OTTHUMG00000016918	ENST00000317257.8:c.89A>T	13.37:g.50034315A>T	ENSP00000326477:p.Asn30Ile		Q5TC65|Q5TC66|Q5W0A7|Q659A7|Q86UD6|Q96AI6	Missense_Mutation	SNP	pfam_SET_dom,pfam_Pre-SET_dom,pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Methyl_CpG_DNA-bd,pfscan_SET_dom,pfscan_Pre-SET_dom	p.N30I	ENST00000317257.8	37	c.89	CCDS9417.1	13	.	.	.	.	.	.	.	.	.	.	A	16.74	3.207846	0.58343	.	.	ENSG00000136169	ENST00000354234;ENST00000317257;ENST00000258672	D;D;T	0.86627	-2.15;-2.15;1.15	5.46	1.75	0.24633	.	0.534814	0.23220	N	0.050571	D	0.83440	0.5255	N	0.24115	0.695	0.35344	D	0.786726	D;D;D	0.60160	0.98;0.987;0.987	P;P;P	0.57057	0.668;0.812;0.653	D	0.84076	0.0382	10	0.72032	D	0.01	.	6.5247	0.22295	0.7198:0.0:0.2802:0.0	.	30;30;30	Q96T68-3;Q96T68-2;Q96T68	.;.;SETB2_HUMAN	I	30	ENSP00000346175:N30I;ENSP00000326477:N30I;ENSP00000258672:N30I	ENSP00000258672:N30I	N	+	2	0	SETDB2	48932316	1.000000	0.71417	1.000000	0.80357	0.631000	0.37964	0.913000	0.28611	0.464000	0.27142	-0.256000	0.11100	AAT	SETDB2	-	NULL	ENSG00000136169		0.328	SETDB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SETDB2	HGNC	protein_coding	OTTHUMT00000044925.1	-	0.00	52	0	A	NM_031915		50034315	+1	tier1	-	no_errors	ENST00000317257	ensembl	human	known	74_37	missense	45.00	33	27	SNP	1.000	T
SGCZ	137868	genome.wustl.edu	37	8	14022123	14022123	+	Missense_Mutation	SNP	C	C	A			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr8:14022123C>A	ENST00000382080.1	-	5	1228	c.513G>T	c.(511-513)gaG>gaT	p.E171D	SGCZ_ENST00000421524.2_Missense_Mutation_p.E124D|RP11-3G21.1_ENST00000527110.1_RNA	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	158					membrane organization (GO:0061024)|muscle cell cellular homeostasis (GO:0046716)|muscle cell development (GO:0055001)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|sarcoglycan complex (GO:0016012)				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		CAATGGTAATCTCATCTTCAT	0.423																																																	0													123.0	111.0	115.0					8																	14022123		2203	4300	6503	SO:0001583	missense	0			AY028700	CCDS5992.2	8p22	2014-09-17	2010-04-21		ENSG00000185053	ENSG00000185053			14075	protein-coding gene	gene with protein product		608113				12189167	Standard	XM_006716287		Approved	ZSG1	uc003wwq.3	Q96LD1	OTTHUMG00000090827	ENST00000382080.1:c.513G>T	8.37:g.14022123C>A	ENSP00000371512:p.Glu171Asp		Q6REU0	Missense_Mutation	SNP	pfam_Sarcoglycan	p.E171D	ENST00000382080.1	37	c.513	CCDS5992.2	8	.	.	.	.	.	.	.	.	.	.	C	21.5	4.165219	0.78339	.	.	ENSG00000185053	ENST00000382080;ENST00000421524	T;T	0.10860	2.83;2.83	5.31	5.31	0.75309	.	0.047960	0.85682	D	0.000000	T	0.31040	0.0784	M	0.75777	2.31	0.51233	D	0.999911	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.994	T	0.00829	-1.1549	10	0.52906	T	0.07	.	11.784	0.52032	0.0:0.9194:0.0:0.0806	.	124;171	Q08AT0;Q96LD1-2	.;.	D	171;124	ENSP00000371512:E171D;ENSP00000405224:E124D	ENSP00000371512:E171D	E	-	3	2	SGCZ	14066494	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.107000	0.31110	2.652000	0.90054	0.591000	0.81541	GAG	SGCZ	-	pfam_Sarcoglycan	ENSG00000185053		0.423	SGCZ-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SGCZ	HGNC	protein_coding	OTTHUMT00000207636.2		0.00	50	0	C	NM_139167		14022123	-1			no_errors	ENST00000382080	ensembl	human	known	74_37	missense	5.00	38	2	SNP	1.000	A
SH2D3A	10045	genome.wustl.edu	37	19	6761131	6761131	+	Intron	SNP	G	G	A			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr19:6761131G>A	ENST00000245908.6	-	3	339				SH2D3A_ENST00000599563.1_5'UTR|SH2D3A_ENST00000437152.3_Intron	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A						JNK cascade (GO:0007254)|positive regulation of signal transduction (GO:0009967)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)|SH3/SH2 adaptor activity (GO:0005070)			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						aggcaaagacggggaactttc	0.542																																																	0																																										SO:0001627	intron_variant	0			AF124249	CCDS12173.1	19p13.3	2013-02-14	2002-01-14			ENSG00000125731		"""SH2 domain containing"""	16885	protein-coding gene	gene with protein product		604721	"""SH2 domain-containing 3A"""			10187783	Standard	NM_005490		Approved	NSP1	uc002mft.3	Q9BRG2		ENST00000245908.6:c.70-133C>T	19.37:g.6761131G>A			A8K9R6|B4DRS7|Q9Y2X4	RNA	SNP	-	NULL	ENST00000245908.6	37	NULL	CCDS12173.1	19																																																																																			SH2D3A	-	-	ENSG00000125731		0.542	SH2D3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH2D3A	HGNC	protein_coding	OTTHUMT00000458016.1	-	0.00	13	0	G	NM_005490		6761131	-1	tier1	-	no_errors	ENST00000599563	ensembl	human	known	74_37	rna	100.00	0	7	SNP	0.000	A
SH3TC2	79628	genome.wustl.edu	37	5	148407322	148407322	+	Missense_Mutation	SNP	C	C	T	rs138040787		TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr5:148407322C>T	ENST00000515425.1	-	11	2074	c.1973G>A	c.(1972-1974)cGc>cAc	p.R658H	SH3TC2_ENST00000394358.2_Missense_Mutation_p.R543H|SH3TC2_ENST00000538184.1_Missense_Mutation_p.R205H|SH3TC2_ENST00000512049.1_Missense_Mutation_p.R651H|SH3TC2_ENST00000513340.1_5'Flank	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	658			R -> C (in CMT4C; heterozygous in one German patient with affected sibling). {ECO:0000269|PubMed:14574644}.		cell death (GO:0008219)|peripheral nervous system myelin maintenance (GO:0032287)|regulation of ERBB signaling pathway (GO:1901184)|regulation of intracellular protein transport (GO:0033157)	cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGCTGCAGGCGCTCGGCAAA	0.617																																																	0								C	HIS/ARG	0,4406		0,0,2203	47.0	54.0	52.0		1973	6.2	1.0	5	dbSNP_134	52	3,8597	3.0+/-9.4	0,3,4297	yes	missense	SH3TC2	NM_024577.3	29	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	possibly-damaging	658/1289	148407322	3,13003	2203	4300	6503	SO:0001583	missense	0			AK127248	CCDS4293.1	5q32	2014-09-17			ENSG00000169247	ENSG00000169247		"""Tetratricopeptide (TTC) repeat domain containing"""	29427	protein-coding gene	gene with protein product		608206				14574644	Standard	NM_024577		Approved	KIAA1985, CMT4C	uc003lpu.3	Q8TF17	OTTHUMG00000129930	ENST00000515425.1:c.1973G>A	5.37:g.148407322C>T	ENSP00000423660:p.Arg658His		B3KWE5|Q14CC0|Q14CF5|Q9H8I5	Missense_Mutation	SNP	pfam_SH3_domain,pfam_TPR_1,superfamily_SH3_domain,smart_SH3_domain,smart_TPR_repeat,pfscan_SH3_domain	p.R658H	ENST00000515425.1	37	c.1973	CCDS4293.1	5	.	.	.	.	.	.	.	.	.	.	C	15.79	2.938799	0.52972	0.0	3.49E-4	ENSG00000169247	ENST00000538184;ENST00000515425;ENST00000512049;ENST00000394358	T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18	6.16	6.16	0.99307	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.59459	0.2195	M	0.67700	2.07	0.54753	D	0.999983	P;D;D;D	0.58268	0.896;0.982;0.982;0.982	B;B;B;B	0.41571	0.189;0.36;0.36;0.36	T	0.62817	-0.6774	10	0.44086	T	0.13	-17.8698	11.6865	0.51490	0.0:0.8957:0.0:0.1043	.	543;651;658;658	C9JLC3;Q14CC0;E9PDF1;Q8TF17	.;.;.;S3TC2_HUMAN	H	205;658;651;543	ENSP00000441427:R205H;ENSP00000423660:R658H;ENSP00000421860:R651H;ENSP00000377886:R543H	ENSP00000377886:R543H	R	-	2	0	SH3TC2	148387515	0.996000	0.38824	0.985000	0.45067	0.827000	0.46813	3.263000	0.51546	2.937000	0.99478	0.650000	0.86243	CGC	SH3TC2	-	NULL	ENSG00000169247		0.617	SH3TC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3TC2	HGNC	protein_coding	OTTHUMT00000252186.2	-	0.00	42	0	C	NM_024577		148407322	-1	tier1	rs138040787	no_errors	ENST00000515425	ensembl	human	known	74_37	missense	41.18	20	14	SNP	0.998	T
SIRT3	23410	genome.wustl.edu	37	11	218900	218900	+	Missense_Mutation	SNP	C	C	G			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr11:218900C>G	ENST00000382743.4	-	6	1213	c.1111G>C	c.(1111-1113)Gaa>Caa	p.E371Q	SIRT3_ENST00000529382.1_Missense_Mutation_p.E229Q|SIRT3_ENST00000525319.1_Missense_Mutation_p.E290Q|SIRT3_ENST00000524564.1_Missense_Mutation_p.E307Q|SIRT3_ENST00000532956.1_Missense_Mutation_p.E317Q	NM_001017524.2|NM_012239.5	NP_001017524.1|NP_036371.1	Q9NTG7	SIR3_HUMAN	sirtuin 3	371	Deacetylase sirtuin-type. {ECO:0000255|PROSITE-ProRule:PRU00236}.				aerobic respiration (GO:0009060)|peptidyl-lysine deacetylation (GO:0034983)|protein ADP-ribosylation (GO:0006471)|protein deacetylation (GO:0006476)	membrane (GO:0016020)|mitochondrion (GO:0005739)	NAD+ ADP-ribosyltransferase activity (GO:0003950)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|zinc ion binding (GO:0008270)			endometrium(1)|lung(5)|urinary_tract(1)	7		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;3.66e-27)|Epithelial(43;2.02e-26)|OV - Ovarian serous cystadenocarcinoma(40;2.9e-21)|BRCA - Breast invasive adenocarcinoma(625;3.88e-05)|Lung(200;0.111)|LUSC - Lung squamous cell carcinoma(625;0.129)		ACTAGGCTTTCCACGCCGTGA	0.627																																																	0													111.0	101.0	104.0					11																	218900		2203	4300	6503	SO:0001583	missense	0			AF083108	CCDS7691.1, CCDS53590.1	11p15.5	2010-06-25	2010-06-25		ENSG00000142082	ENSG00000142082			14931	protein-coding gene	gene with protein product		604481	"""sirtuin (silent mating type information regulation 2, S.cerevisiae, homolog) 3"", ""sirtuin (silent mating type information regulation 2 homolog) 3 (S. cerevisiae)"""			10381378, 18215119	Standard	NM_012239		Approved	SIR2L3	uc001lok.4	Q9NTG7	OTTHUMG00000119074	ENST00000382743.4:c.1111G>C	11.37:g.218900C>G	ENSP00000372191:p.Glu371Gln		B7Z5U6|Q9Y6E8	Missense_Mutation	SNP	pfam_Sirtuin,pirsf_NAD-dep_deAcase_SIR2_class_I,pfscan_Ssirtuin_cat_dom	p.E371Q	ENST00000382743.4	37	c.1111	CCDS7691.1	11	.	.	.	.	.	.	.	.	.	.	C	5.589	0.293464	0.10567	.	.	ENSG00000142082	ENST00000382743;ENST00000525319;ENST00000524564;ENST00000532956;ENST00000529382	T;T;T;T;T	0.17054	2.3;2.3;2.3;2.3;2.3	4.99	3.02	0.34903	.	0.379586	0.30285	N	0.009966	T	0.10508	0.0257	L	0.28458	0.855	0.09310	N	1	B;B;B;B;B	0.19200	0.02;0.034;0.013;0.019;0.034	B;B;B;B;B	0.11329	0.006;0.005;0.003;0.003;0.003	T	0.27706	-1.0066	10	0.27082	T	0.32	-4.6244	5.9365	0.19169	0.0:0.6695:0.157:0.1735	.	317;371;290;307;371	E9PM75;B7Z7G4;E9PK80;E9PN58;Q9NTG7	.;.;.;.;SIRT3_HUMAN	Q	371;290;307;317;229	ENSP00000372191:E371Q;ENSP00000435464:E290Q;ENSP00000432937:E307Q;ENSP00000433077:E317Q;ENSP00000437216:E229Q	ENSP00000372191:E371Q	E	-	1	0	SIRT3	208900	0.064000	0.20934	0.344000	0.25628	0.422000	0.31414	0.493000	0.22451	0.571000	0.29365	0.505000	0.49811	GAA	SIRT3	-	pirsf_NAD-dep_deAcase_SIR2_class_I,pfscan_Ssirtuin_cat_dom	ENSG00000142082		0.627	SIRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIRT3	HGNC	protein_coding	OTTHUMT00000239288.3	-	0.00	51	0	C			218900	-1	tier1	-	no_errors	ENST00000382743	ensembl	human	known	74_37	missense	22.64	41	12	SNP	0.073	G
SLC1A5	6510	genome.wustl.edu	37	19	47287780	47287780	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr19:47287780delA	ENST00000542575.2	-	2	1231	c.603delT	c.(601-603)tttfs	p.F201fs	SLC1A5_ENST00000412532.2_5'UTR|SLC1A5_ENST00000434726.2_Intron|SLC1A5_ENST00000594991.1_Frame_Shift_Del_p.F25fs	NM_005628.2	NP_005619.1	Q15758	AAAT_HUMAN	solute carrier family 1 (neutral amino acid transporter), member 5	201					amino acid transport (GO:0006865)|extracellular amino acid transport (GO:0006860)|glutamine transport (GO:0006868)|ion transport (GO:0006811)|neutral amino acid transport (GO:0015804)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-glutamine transmembrane transporter activity (GO:0015186)|L-serine transmembrane transporter activity (GO:0015194)|neutral amino acid transmembrane transporter activity (GO:0015175)|receptor activity (GO:0004872)|sodium:dicarboxylate symporter activity (GO:0017153)|virus receptor activity (GO:0001618)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(2)|stomach(1)	13		all_epithelial(76;0.00314)|Ovarian(192;0.0798)|all_neural(266;0.107)		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000882)|Epithelial(262;0.0211)|GBM - Glioblastoma multiforme(486;0.0341)	L-Asparagine(DB00174)|L-Glutamine(DB00130)	TCACTGAGCGAAAGGCTGCTG	0.552																																																	0													128.0	126.0	127.0					19																	47287780		2203	4300	6503	SO:0001589	frameshift_variant	0			U53347	CCDS12692.1, CCDS46125.1, CCDS46126.1	19q13.32	2013-07-15			ENSG00000105281	ENSG00000105281		"""Solute carriers"""	10943	protein-coding gene	gene with protein product		109190		RDRC, M7V1		8702519, 10051606	Standard	NM_005628		Approved	AAAT, ASCT2	uc002pfs.3	Q15758	OTTHUMG00000183434	ENST00000542575.2:c.603delT	19.37:g.47287780delA	ENSP00000444408:p.Phe201fs		A8K9H5|B4DR77|B4DWS4|B7ZB81|D0EYG6|E9PC01|O95720|Q96RL9|Q9BWQ3|Q9UNP2	Frame_Shift_Del	DEL	pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter	p.R202fs	ENST00000542575.2	37	c.603	CCDS12692.1	19																																																																																			SLC1A5	-	pfam_Na-dicarboxylate_symporter	ENSG00000105281		0.552	SLC1A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC1A5	HGNC	protein_coding	OTTHUMT00000466630.1		0.00	46	0	A			47287780	-1	tier1		no_errors	ENST00000542575	ensembl	human	known	74_37	frame_shift_del	5.56	34	2	DEL	1.000	-
SLC24A2	25769	genome.wustl.edu	37	9	19528098	19528098	+	Silent	SNP	G	G	T			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr9:19528098G>T	ENST00000341998.2	-	8	1579	c.1518C>A	c.(1516-1518)tcC>tcA	p.S506S	SLC24A2_ENST00000286344.3_Silent_p.S489S	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2	506					cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)	cadmium ion binding (GO:0046870)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium, potassium:sodium antiporter activity (GO:0008273)|manganese ion binding (GO:0030145)|nickel cation binding (GO:0016151)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|symporter activity (GO:0015293)			endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		TCCAGGTAATGGAGCCAAAGA	0.438																																																	0													103.0	92.0	96.0					9																	19528098		2203	4300	6503	SO:0001819	synonymous_variant	0			AF097366	CCDS6493.1, CCDS55297.1	9p22.1	2013-05-22			ENSG00000155886	ENSG00000155886		"""Solute carriers"""	10976	protein-coding gene	gene with protein product		609838				10662833	Standard	NM_020344		Approved	NCKX2	uc003zoa.2	Q9UI40	OTTHUMG00000019646	ENST00000341998.2:c.1518C>A	9.37:g.19528098G>T			B7ZLL8|Q9NTN5|Q9NZQ4	Silent	SNP	pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger	p.S506	ENST00000341998.2	37	c.1518	CCDS6493.1	9																																																																																			SLC24A2	-	tigrfam_K/Na/Ca-exchanger	ENSG00000155886		0.438	SLC24A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC24A2	HGNC	protein_coding	OTTHUMT00000051866.2	-	0.00	45	0	G	NM_020344		19528098	-1	tier1	-	no_errors	ENST00000341998	ensembl	human	known	74_37	silent	11.11	24	3	SNP	1.000	T
SLC25A44	9673	genome.wustl.edu	37	1	156180849	156180849	+	3'UTR	SNP	G	G	T	rs58631766		TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr1:156180849G>T	ENST00000359511.4	+	0	1744				PMF1-BGLAP_ENST00000320139.5_5'Flank|PMF1_ENST00000368273.4_5'Flank|PMF1_ENST00000368279.3_5'Flank|PMF1_ENST00000565805.1_5'Flank|PMF1-BGLAP_ENST00000368276.4_5'Flank|PMF1-BGLAP_ENST00000490491.1_5'Flank|PMF1_ENST00000567140.1_5'Flank|PMF1_ENST00000368277.3_5'Flank|SLC25A44_ENST00000469537.1_3'UTR	NM_014655.2	NP_055470.1	Q96H78	S2544_HUMAN	solute carrier family 25, member 44						transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				breast(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Hepatocellular(266;0.158)					CTTTTGTTTtgtgtgtgtgtg	0.463																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AB007915	CCDS1133.1, CCDS72943.1	1q22	2013-05-22			ENSG00000160785	ENSG00000160785		"""Solute carriers"""	29036	protein-coding gene	gene with protein product		610824				16949250	Standard	NM_001286184		Approved	FLJ90431, KIAA0446	uc001fnp.3	Q96H78	OTTHUMG00000014816	ENST00000359511.4:c.*627G>T	1.37:g.156180849G>T			O75034	RNA	SNP	-	NULL	ENST00000359511.4	37	NULL	CCDS1133.1	1																																																																																			SLC25A44	-	-	ENSG00000160785		0.463	SLC25A44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A44	HGNC	protein_coding	OTTHUMT00000040856.1	-	0.00	23	0	G	NM_014655		156180849	+1	tier1	-	no_errors	ENST00000469537	ensembl	human	known	74_37	rna	17.39	19	4	SNP	0.000	T
SLC26A10	65012	genome.wustl.edu	37	12	58017820	58017820	+	Missense_Mutation	SNP	G	G	A	rs369961371		TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr12:58017820G>A	ENST00000320442.4	+	9	1477	c.1166G>A	c.(1165-1167)cGc>cAc	p.R389H	SLC26A10_ENST00000379218.2_Missense_Mutation_p.R389H	NM_133489.2	NP_597996.2	Q8NG04	S2610_HUMAN	solute carrier family 26, member 10	389						integral component of membrane (GO:0016021)	antiporter activity (GO:0015297)|sulfate transmembrane transporter activity (GO:0015116)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)	19	Melanoma(17;0.122)					TCCAGCATGCGCCAGGTGTTC	0.557																																																	0								G	HIS/ARG	1,4405		0,1,2202	171.0	155.0	160.0		1166	4.3	1.0	12		160	0,8600		0,0,4300	no	missense	SLC26A10	NM_133489.2	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	389/564	58017820	1,13005	2203	4300	6503	SO:0001583	missense	0				CCDS8949.2	12q13	2013-07-18			ENSG00000135502	ENSG00000135502		"""Solute carriers"""	14470	protein-coding gene	gene with protein product							Standard	NM_133489		Approved		uc001spe.3	Q8NG04	OTTHUMG00000128505	ENST00000320442.4:c.1166G>A	12.37:g.58017820G>A	ENSP00000320217:p.Arg389His		A6NMJ2|B6ZDQ3|Q6ZWI7	Missense_Mutation	SNP	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom	p.R389H	ENST00000320442.4	37	c.1166	CCDS8949.2	12	.	.	.	.	.	.	.	.	.	.	.	28.3	4.911104	0.92178	2.27E-4	0.0	ENSG00000240771;ENSG00000135502;ENSG00000135502	ENST00000300189;ENST00000320442;ENST00000379218	D;D	0.93019	-3.15;-3.15	4.3	4.3	0.51218	Sulphate transporter (1);	.	.	.	.	D	0.95169	0.8434	L	0.51422	1.61	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.95225	0.8337	9	0.72032	D	0.01	.	15.0858	0.72151	0.0:0.0:1.0:0.0	.	389	Q8NG04	S2610_HUMAN	H	261;389;389	ENSP00000320217:R389H;ENSP00000368520:R389H	ENSP00000300189:R261H	R	+	2	0	ARHGEF25;SLC26A10	56304087	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.254000	0.72460	2.664000	0.90586	0.655000	0.94253	CGC	SLC26A10	-	pfam_Sulph_transpt	ENSG00000135502		0.557	SLC26A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A10	HGNC	protein_coding	OTTHUMT00000250311.2	-	0.00	50	0	G			58017820	+1	tier1	-	no_errors	ENST00000320442	ensembl	human	known	74_37	missense	81.40	8	35	SNP	1.000	A
SLC39A7	7922	genome.wustl.edu	37	6	33170809	33170809	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr6:33170809G>A	ENST00000374677.3	+	6	1436	c.1063G>A	c.(1063-1065)Gtc>Atc	p.V355I	RXRB_ENST00000374680.3_5'Flank|RXRB_ENST00000544186.1_5'Flank|SLC39A7_ENST00000374675.3_Missense_Mutation_p.V355I|SLC39A7_ENST00000463972.1_3'UTR|RXRB_ENST00000413614.2_5'Flank|RXRB_ENST00000374685.4_5'Flank|HSD17B8_ENST00000374662.3_5'Flank	NM_006979.2	NP_008910.2	Q92504	S39A7_HUMAN	solute carrier family 39 (zinc transporter), member 7	355					transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metal ion transmembrane transporter activity (GO:0046873)			NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						CACAATGACTGTCCTGCTACA	0.557																																																	0													222.0	255.0	244.0					6																	33170809		1387	2611	3998	SO:0001583	missense	0			AF117221	CCDS43453.1	6p21.3	2014-01-28		2003-10-27	ENSG00000112473	ENSG00000112473		"""Solute carriers"""	4927	protein-coding gene	gene with protein product		601416	"""HLA class II region expressed gene KE4"""	HKE4		8812499, 1855816, 19246244, 15705588	Standard	NM_006979		Approved	H2-KE4, D6S2244E, KE4, RING5, ZIP7	uc003odf.3	Q92504	OTTHUMG00000031238	ENST00000374677.3:c.1063G>A	6.37:g.33170809G>A	ENSP00000363809:p.Val355Ile		B0UXF6|Q5STP8|Q9UIQ0	Missense_Mutation	SNP	pfam_ZIP,prints_Kininogen	p.V355I	ENST00000374677.3	37	c.1063	CCDS43453.1	6	.	.	.	.	.	.	.	.	.	.	G	10.30	1.312431	0.23908	.	.	ENSG00000112473	ENST00000374675;ENST00000446283;ENST00000445037;ENST00000374677	T;T	0.52295	0.67;0.67	5.02	5.02	0.67125	.	0.064056	0.64402	D	0.000009	T	0.14657	0.0354	N	0.03115	-0.41	0.42425	D	0.992658	P;P	0.45634	0.699;0.863	P;P	0.51415	0.557;0.669	T	0.25047	-1.0143	10	0.02654	T	1	-15.5483	9.2857	0.37755	0.0956:0.0:0.9044:0.0	.	336;355	B4DVK8;Q92504	.;S39A7_HUMAN	I	355;336;260;355	ENSP00000363807:V355I;ENSP00000363809:V355I	ENSP00000363807:V355I	V	+	1	0	SLC39A7	33278787	1.000000	0.71417	0.998000	0.56505	0.976000	0.68499	5.646000	0.67916	2.603000	0.88011	0.448000	0.29417	GTC	SLC39A7	-	pfam_ZIP	ENSG00000112473		0.557	SLC39A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC39A7	HGNC	protein_coding	OTTHUMT00000076499.2	-	0.00	61	0	G	NM_006979		33170809	+1	tier1	-	no_errors	ENST00000374675	ensembl	human	known	74_37	missense	21.30	85	23	SNP	1.000	A
SMG1P1	641298	genome.wustl.edu	37	16	22470724	22470724	+	IGR	SNP	G	G	A			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr16:22470724G>A								RRN3P3 (21688 upstream) : SMG1P1 (15633 downstream)																							TATCTTCTTCGGAGGATCACC	0.383																																																	0																																										SO:0001628	intergenic_variant	0																															16.37:g.22470724G>A				RNA	SNP	-	NULL		37	NULL		16																																																																																			SMG1P1	-	-	ENSG00000237296	0	0.383					SMG1P1	HGNC			-	0.00	23	0	G			22470724	+1	tier1	-	no_errors	ENST00000308347	ensembl	human	known	74_37	rna	15.91	37	7	SNP	1.000	A
SNHG14	104472715	genome.wustl.edu	37	15	25432690	25432690	+	RNA	SNP	T	T	G			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr15:25432690T>G	ENST00000424208.1	+	0	761				SNORD115-11_ENST00000363616.1_RNA|SNHG14_ENST00000414175.1_RNA|SNORD115-9_ENST00000362912.1_RNA|SNORD115-10_ENST00000365073.1_RNA	NR_003305.1				small nucleolar RNA host gene 14 (non-protein coding)																		GTTGGGTCGATGATGAGAACC	0.532																																																	0													377.0	375.0	376.0					15																	25432690		876	1991	2867			0					15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25432690T>G				RNA	SNP	-	NULL	ENST00000424208.1	37	NULL		15																																																																																			SNORD115-10	-	-	ENSG00000201943		0.532	SNHG14-002	KNOWN	basic	antisense	SNORD115-10	HGNC	processed_transcript	OTTHUMT00000126729.2	-	0.00	147	0	T			25432690	+1	tier1	-	no_errors	ENST00000365073	ensembl	human	known	74_37	rna	53.70	75	87	SNP	0.009	G
SNHG14	104472715	genome.wustl.edu	37	15	25436571	25436571	+	RNA	SNP	G	G	T			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr15:25436571G>T	ENST00000424208.1	+	0	1092				SNHG14_ENST00000363358.1_RNA|SNHG14_ENST00000456576.1_RNA|SNORD115-11_ENST00000363616.1_RNA|SNHG14_ENST00000414175.1_RNA|SNORD115-12_ENST00000362583.1_RNA	NR_003305.1				small nucleolar RNA host gene 14 (non-protein coding)																		TTGGGTCGATGATGAGAACCT	0.532																																																	0													401.0	402.0	402.0					15																	25436571		876	1991	2867			0					15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25436571G>T				RNA	SNP	-	NULL	ENST00000424208.1	37	NULL		15																																																																																			SNORD115-12	-	-	ENSG00000199453		0.532	SNHG14-002	KNOWN	basic	antisense	SNORD115-12	HGNC	processed_transcript	OTTHUMT00000126729.2	-	0.00	155	0	G			25436571	+1	tier1	-	no_errors	ENST00000362583	ensembl	human	known	74_37	rna	58.33	50	70	SNP	0.876	T
SNRK	54861	genome.wustl.edu	37	3	43344790	43344790	+	Missense_Mutation	SNP	T	T	A			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr3:43344790T>A	ENST00000296088.7	+	3	399	c.95T>A	c.(94-96)cTt>cAt	p.L32H	SNRK_ENST00000462810.1_3'UTR|SNRK_ENST00000454177.1_Missense_Mutation_p.L32H|SNRK_ENST00000437827.1_Intron|SNRK_ENST00000429705.2_Missense_Mutation_p.L32H	NM_017719.4	NP_060189.3			SNF related kinase											breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)		GTGGTTAAACTTGCCAGGCAT	0.443																																																	0													130.0	126.0	127.0					3																	43344790		1883	4110	5993	SO:0001583	missense	0			D43636	CCDS43075.1	3p22.1	2005-08-09			ENSG00000163788	ENSG00000163788			30598	protein-coding gene	gene with protein product		612760				8654423, 7788527	Standard	NM_017719		Approved	FLJ20224, HSNFRK, KIAA0096	uc003cmt.4	Q9NRH2	OTTHUMG00000156491	ENST00000296088.7:c.95T>A	3.37:g.43344790T>A	ENSP00000296088:p.Leu32His			Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom	p.L32H	ENST00000296088.7	37	c.95	CCDS43075.1	3	.	.	.	.	.	.	.	.	.	.	T	23.6	4.437528	0.83885	.	.	ENSG00000163788	ENST00000454177;ENST00000429705;ENST00000296088	D;D;D	0.84873	-1.91;-1.91;-1.91	5.58	5.58	0.84498	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.92899	0.7741	M	0.84948	2.725	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.80764	0.956;0.994	D	0.93988	0.7264	10	0.87932	D	0	.	15.7349	0.77834	0.0:0.0:0.0:1.0	.	32;32	Q9NRH2-2;Q9NRH2	.;SNRK_HUMAN	H	32	ENSP00000401246:L32H;ENSP00000411375:L32H;ENSP00000296088:L32H	ENSP00000296088:L32H	L	+	2	0	SNRK	43319794	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.040000	0.89188	2.112000	0.64535	0.533000	0.62120	CTT	SNRK	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000163788		0.443	SNRK-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SNRK	HGNC	protein_coding	OTTHUMT00000344325.1	-	0.00	52	0	T	NM_017719		43344790	+1	tier1	-	no_errors	ENST00000296088	ensembl	human	known	74_37	missense	33.33	18	9	SNP	1.000	A
SOGA1	140710	genome.wustl.edu	37	20	35422823	35422823	+	Missense_Mutation	SNP	T	T	C			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr20:35422823T>C	ENST00000357779.3	-	14	3274	c.2948A>G	c.(2947-2949)gAc>gGc	p.D983G	SOGA1_ENST00000279034.6_Missense_Mutation_p.D983G|SOGA1_ENST00000237536.4_Missense_Mutation_p.D1221G|SOGA1_ENST00000456801.2_Missense_Mutation_p.D824G			O94964	SOGA1_HUMAN	suppressor of glucose, autophagy associated 1	983					insulin receptor signaling pathway (GO:0008286)|negative regulation of gluconeogenesis (GO:0045721)|regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						GTGGTTGCAGTCCCTCGACGA	0.617																																																	0													27.0	29.0	28.0					20																	35422823		1958	4146	6104	SO:0001583	missense	0			AK126630	CCDS46598.1, CCDS54459.1	20q11.23	2012-03-01	2012-02-27	2012-02-27	ENSG00000149639	ENSG00000149639			16111	protein-coding gene	gene with protein product	"""suppressor of glucose by autophagy"", ""suppressor of glucose from autophagy"""		"""chromosome 20 open reading frame 117"", ""KIAA0889"""	C20orf117, KIAA0889		20813965	Standard	NM_080627		Approved	dJ132F21.1, FLJ44670, SOGA	uc021wcx.1	O94964	OTTHUMG00000032395	ENST00000357779.3:c.2948A>G	20.37:g.35422823T>C	ENSP00000350424:p.Asp983Gly		A6NK10|Q14DB2|Q5JW51|Q6ZTG8	Missense_Mutation	SNP	pfam_SOGA	p.D1221G	ENST00000357779.3	37	c.3662		20	.	.	.	.	.	.	.	.	.	.	T	18.59	3.657466	0.67586	.	.	ENSG00000149639	ENST00000237536;ENST00000279034;ENST00000456801;ENST00000357779	T;T;T;T	0.22539	2.08;1.95;2.11;2.1	5.14	5.14	0.70334	.	0.321572	0.35291	N	0.003318	T	0.28632	0.0709	L	0.44542	1.39	0.42635	D	0.99339	D	0.56521	0.976	P	0.53266	0.722	T	0.01666	-1.1300	10	0.27082	T	0.32	-35.5359	14.0913	0.64993	0.0:0.0:0.0:1.0	.	983	O94964-4	.	G	1221;983;824;983	ENSP00000237536:D1221G;ENSP00000279034:D983G;ENSP00000413886:D824G;ENSP00000350424:D983G	ENSP00000237536:D1221G	D	-	2	0	KIAA0889	34856237	1.000000	0.71417	0.997000	0.53966	0.655000	0.38815	5.425000	0.66470	2.164000	0.68074	0.533000	0.62120	GAC	SOGA1	-	NULL	ENSG00000149639		0.617	SOGA1-201	KNOWN	basic	protein_coding	SOGA1	HGNC	protein_coding		-	0.00	46	0	T	NM_199181		35422823	-1	tier1	-	no_errors	ENST00000237536	ensembl	human	known	74_37	missense	42.17	47	35	SNP	1.000	C
SPATA13	221178	genome.wustl.edu	37	13	24798141	24798141	+	Intron	SNP	T	T	A			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr13:24798141T>A	ENST00000382095.4	+	2	185				RP11-307N16.6_ENST00000382141.4_Missense_Mutation_p.H358Q|SPATA13_ENST00000382108.3_Missense_Mutation_p.H358Q|SPATA13_ENST00000424834.2_Missense_Mutation_p.H358Q	NM_153023.2	NP_694568.1	Q96N96	SPT13_HUMAN	spermatogenesis associated 13						cell migration (GO:0016477)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell migration (GO:0030334)	cytoplasm (GO:0005737)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		GCCGGCTGCATGACGACTACT	0.677																																																	0													15.0	21.0	19.0					13																	24798141		692	1591	2283	SO:0001627	intron_variant	0			AK055770	CCDS9305.1, CCDS53857.1, CCDS66517.1, CCDS66518.1, CCDS73553.1	13q12.13	2013-01-10			ENSG00000182957	ENSG00000182957		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	23222	protein-coding gene	gene with protein product		613324					Standard	NM_001286795		Approved	FLJ31208, ARHGEF29	uc021rhg.1	Q96N96	OTTHUMG00000016578	ENST00000382095.4:c.-222-25474T>A	13.37:g.24798141T>A			A2VEA9|A6NF85|B4DQB1|B4DSZ0|B4DVM8|J3KPJ7|J3KQH2|Q5VX68|Q6ZML1|Q8N873|Q8TEK6	Missense_Mutation	SNP	pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.H358Q	ENST00000382095.4	37	c.1074	CCDS9305.1	13	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.03|15.03	2.712290|2.712290	0.48517|0.48517	.|.	.|.	ENSG00000182957|ENSG00000182957	ENST00000382108|ENST00000424834	D|.	0.86769|.	-2.17|.	4.68|4.68	-4.2|-4.2	0.03823|0.03823	.|.	0.000000|.	0.39020|.	U|.	0.001485|.	T|.	0.49677|.	0.1571|.	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.44952|.	-0.9294|.	8|.	0.45353|.	T|.	0.12|.	.|.	13.6586|13.6586	0.62352|0.62352	0.0:0.2524:0.0:0.7476|0.0:0.2524:0.0:0.7476	.|.	.|.	.|.	.|.	Q|R	358|396	ENSP00000371542:H358Q|.	ENSP00000371542:H358Q|.	H|X	+|+	3|1	2|0	SPATA13|SPATA13	23696141|23696141	0.938000|0.938000	0.31826|0.31826	0.560000|0.560000	0.28344|0.28344	0.163000|0.163000	0.22366|0.22366	-0.070000|-0.070000	0.11523|0.11523	-0.854000|-0.854000	0.04131|0.04131	-0.435000|-0.435000	0.05868|0.05868	CAT|TGA	SPATA13	-	NULL	ENSG00000182957		0.677	SPATA13-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SPATA13	HGNC	protein_coding	OTTHUMT00000044180.2	-	0.00	83	0	T	NM_153023		24798141	+1	tier1	-	no_errors	ENST00000382108	ensembl	human	known	74_37	missense	30.77	62	28	SNP	0.980	A
SPATA31D1	389763	genome.wustl.edu	37	9	84608189	84608189	+	Missense_Mutation	SNP	T	T	C			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr9:84608189T>C	ENST00000344803.2	+	4	2851	c.2804T>C	c.(2803-2805)cTt>cCt	p.L935P		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	935					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											AAAGCGGACCTTTCCACTTCC	0.483																																																	0													68.0	64.0	65.0					9																	84608189		1873	4111	5984	SO:0001583	missense	0				CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.2804T>C	9.37:g.84608189T>C	ENSP00000341988:p.Leu935Pro			Missense_Mutation	SNP	NULL	p.L935P	ENST00000344803.2	37	c.2804	CCDS47986.1	9	.	.	.	.	.	.	.	.	.	.	T	5.329	0.246012	0.10077	.	.	ENSG00000214929	ENST00000344803	T	0.04862	3.54	3.21	-0.411	0.12370	.	22.201100	0.00166	U	0.000000	T	0.03263	0.0095	N	0.02539	-0.55	0.09310	N	1	B	0.16802	0.019	B	0.23574	0.047	T	0.38693	-0.9649	10	0.29301	T	0.29	6.3596	5.7699	0.18247	0.0:0.4887:0.0:0.5113	.	935	Q6ZQQ2	F75D1_HUMAN	P	935	ENSP00000341988:L935P	ENSP00000341988:L935P	L	+	2	0	FAM75D1	83798009	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.477000	0.06583	-0.199000	0.10317	-0.249000	0.11873	CTT	SPATA31D1	-	NULL	ENSG00000214929		0.483	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA31D1	HGNC	protein_coding	OTTHUMT00000402325.1	-	0.00	73	0	T	NM_001001670		84608189	+1	tier1	-	no_errors	ENST00000344803	ensembl	human	known	74_37	missense	53.85	48	56	SNP	0.000	C
SRCAP	10847	genome.wustl.edu	37	16	30749528	30749529	+	Frame_Shift_Del	DEL	CG	CG	-			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	CG	CG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr16:30749528_30749529delCG	ENST00000262518.4	+	34	8552_8553	c.8167_8168delCG	c.(8167-8169)cgcfs	p.R2723fs	RP11-2C24.4_ENST00000483578.1_lincRNA|SRCAP_ENST00000344771.4_Frame_Shift_Del_p.R2565fs|SRCAP_ENST00000395059.2_Frame_Shift_Del_p.R2661fs	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2723	Pro-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			TCCTCGGCGTCGCACCAGTGCT	0.599																																																	0																																										SO:0001589	frameshift_variant	0			AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.8167_8168delCG	16.37:g.30749528_30749529delCG	ENSP00000262518:p.Arg2723fs		B0JZA6|O15026|Q7Z744|Q9Y5L9	Frame_Shift_Del	DEL	pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like	p.R2723fs	ENST00000262518.4	37	c.8167_8168	CCDS10689.2	16																																																																																			SRCAP	-	NULL	ENSG00000080603		0.599	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRCAP	HGNC	protein_coding	OTTHUMT00000255523.1		0.00	78	0	CG	NM_006662		30749529	+1	tier1		no_errors	ENST00000262518	ensembl	human	known	74_37	frame_shift_del	10.59	76	9	DEL	1.000:1.000	-
STARD9	57519	genome.wustl.edu	37	15	42867918	42867918	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr15:42867918C>T	ENST00000290607.7	+	1	62	c.5C>T	c.(4-6)gCg>gTg	p.A2V		NM_020759.2	NP_065810.2	Q9P2P6	STAR9_HUMAN	StAR-related lipid transfer (START) domain containing 9	2					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spindle assembly (GO:0051225)	centriole (GO:0005814)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|lipid binding (GO:0008289)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			haematopoietic_and_lymphoid_tissue(1)|stomach(1)	2						AGACGGATGGCGAACGTGCAG	0.697																																																	0													19.0	31.0	27.0					15																	42867918		691	1589	2280	SO:0001583	missense	0			AB037721	CCDS53935.1	15q15.2	2013-10-16	2007-08-16		ENSG00000159433	ENSG00000159433		"""StAR-related lipid transfer (START) domain containing"""	19162	protein-coding gene	gene with protein product		614642	"""START domain containing 9"""			10718198	Standard	NM_020759		Approved	KIAA1300	uc010udj.2	Q9P2P6	OTTHUMG00000175799	ENST00000290607.7:c.5C>T	15.37:g.42867918C>T	ENSP00000290607:p.Ala2Val		Q68DG2|Q6AI01|Q6ZWK0|Q9UF70	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_START_lipid-bd_dom,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_START_lipid-bd_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.A2V	ENST00000290607.7	37	c.5	CCDS53935.1	15	.	.	.	.	.	.	.	.	.	.	C	23.3	4.395852	0.83011	.	.	ENSG00000159433	ENST00000290607	T	0.67698	-0.28	4.44	4.44	0.53790	.	.	.	.	.	T	0.62600	0.2441	L	0.27053	0.805	0.32286	N	0.566903	.	.	.	.	.	.	T	0.71682	-0.4519	7	0.87932	D	0	.	12.7314	0.57201	0.0:1.0:0.0:0.0	.	.	.	.	V	2	ENSP00000290607:A2V	ENSP00000290607:A2V	A	+	2	0	STARD9	40655210	1.000000	0.71417	1.000000	0.80357	0.216000	0.24613	4.228000	0.58619	2.466000	0.83321	0.462000	0.41574	GCG	STARD9	-	smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	ENSG00000159433		0.697	STARD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STARD9	HGNC	protein_coding	OTTHUMT00000431094.1	-	0.00	224	0	C			42867918	+1	tier1	-	no_errors	ENST00000290607	ensembl	human	known	74_37	missense	31.80	220	104	SNP	1.000	T
STAT5A	6776	genome.wustl.edu	37	17	40457645	40457645	+	Silent	SNP	G	G	A			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr17:40457645G>A	ENST00000345506.4	+	13	2040	c.1398G>A	c.(1396-1398)gtG>gtA	p.V466V	STAT5A_ENST00000546010.2_Silent_p.V436V|STAT5A_ENST00000587646.1_5'Flank|STAT5A_ENST00000452307.2_Silent_p.V466V|STAT5A_ENST00000588868.1_Intron|STAT5A_ENST00000590949.1_Silent_p.V466V	NM_003152.3	NP_003143.2	P42229	STA5A_HUMAN	signal transducer and activator of transcription 5A	466					2-oxoglutarate metabolic process (GO:0006103)|allantoin metabolic process (GO:0000255)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|development of secondary female sexual characteristics (GO:0046543)|development of secondary male sexual characteristics (GO:0046544)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|fatty acid metabolic process (GO:0006631)|female pregnancy (GO:0007565)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|lipid storage (GO:0019915)|luteinization (GO:0001553)|mammary gland epithelium development (GO:0061180)|natural killer cell differentiation (GO:0001779)|negative regulation of erythrocyte differentiation (GO:0045647)|negative regulation of mast cell apoptotic process (GO:0033026)|oxaloacetate metabolic process (GO:0006107)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch development (GO:0048541)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of mast cell differentiation (GO:0060376)|positive regulation of mast cell proliferation (GO:0070668)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prolactin signaling pathway (GO:0038161)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of cell adhesion (GO:0030155)|regulation of epithelial cell differentiation (GO:0030856)|regulation of multicellular organism growth (GO:0040014)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|succinate metabolic process (GO:0006105)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|taurine metabolic process (GO:0019530)|transcription, DNA-templated (GO:0006351)|valine metabolic process (GO:0006573)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	calcium ion binding (GO:0005509)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	14		all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		CCCTACCTGTGGTTGTCATCG	0.582																																																	0													177.0	127.0	144.0					17																	40457645		2203	4300	6503	SO:0001819	synonymous_variant	0			U43185	CCDS11424.1, CCDS74066.1, CCDS74067.1	17q11.2	2013-02-14			ENSG00000126561	ENSG00000126561		"""SH2 domain containing"""	11366	protein-coding gene	gene with protein product		601511		STAT5		7719937, 8631883	Standard	NM_003152		Approved	MGF	uc002hzj.2	P42229	OTTHUMG00000150725	ENST00000345506.4:c.1398G>A	17.37:g.40457645G>A			Q1KLZ6	Silent	SNP	pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2	p.V466	ENST00000345506.4	37	c.1398	CCDS11424.1	17																																																																																			STAT5A	-	pfam_STAT_TF_DNA-bd,superfamily_p53-like_TF_DNA-bd	ENSG00000126561		0.582	STAT5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAT5A	HGNC	protein_coding	OTTHUMT00000319804.1	-	0.00	89	0	G	NM_003152		40457645	+1	tier1	-	no_errors	ENST00000345506	ensembl	human	known	74_37	silent	5.19	73	4	SNP	1.000	A
SUN2	25777	genome.wustl.edu	37	22	39134611	39134611	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr22:39134611G>T	ENST00000405510.1	-	17	2286	c.1928C>A	c.(1927-1929)cCc>cAc	p.P643H	RP3-508I15.20_ENST00000609428.1_RNA|RP3-508I15.18_ENST00000420118.1_RNA|SUN2_ENST00000405018.1_Missense_Mutation_p.P664H|SUN2_ENST00000411587.2_Missense_Mutation_p.P632H|RP3-508I15.14_ENST00000416406.1_RNA|RP3-508I15.19_ENST00000418803.1_RNA|SUN2_ENST00000406622.1_Missense_Mutation_p.P643H|SUN2_ENST00000216064.4_Missense_Mutation_p.P643H	NM_001199580.1	NP_001186509.1	Q9UH99	SUN2_HUMAN	Sad1 and UNC84 domain containing 2	643	SUN. {ECO:0000255|PROSITE- ProRule:PRU00802}.				centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|mitotic spindle organization (GO:0007052)|nuclear envelope organization (GO:0006998)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)	condensed nuclear chromosome (GO:0000794)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nuclear inner membrane (GO:0005637)|nuclear membrane (GO:0031965)|SUN-KASH complex (GO:0034993)	identical protein binding (GO:0042802)|lamin binding (GO:0005521)|microtubule binding (GO:0008017)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)|stomach(1)	15						GAAGTCCTTGGGGGCACTGGA	0.612																																																	0													85.0	83.0	84.0					22																	39134611		2202	4300	6502	SO:0001583	missense	0			AF202723	CCDS13978.1, CCDS56231.1	22q12-q13	2010-05-18	2010-05-18	2010-01-27	ENSG00000100242	ENSG00000100242			14210	protein-coding gene	gene with protein product		613569	"""unc-84 homolog B (C. elegans)"""	UNC84B		10508607, 10375507	Standard	NM_015374		Approved		uc010gxq.2	Q9UH99	OTTHUMG00000151031	ENST00000405510.1:c.1928C>A	22.37:g.39134611G>T	ENSP00000385740:p.Pro643His		B0QY62|O75156|Q2NKN8|Q2T9F7|Q504T5|Q6B4H1|Q7Z3E3	Missense_Mutation	SNP	pfam_Sad1_UNC_C,superfamily_Galactose-bd-like	p.P643H	ENST00000405510.1	37	c.1928	CCDS13978.1	22	.	.	.	.	.	.	.	.	.	.	G	25.1	4.600879	0.87055	.	.	ENSG00000100242	ENST00000405510;ENST00000216064;ENST00000405018;ENST00000406622;ENST00000411587;ENST00000455125	T;T;T;T;T;T	0.55234	0.53;0.53;0.53;0.53;0.53;0.53	5.25	5.25	0.73442	Sad1/UNC-like, C-terminal (2);	0.063063	0.64402	N	0.000005	D	0.83552	0.5279	H	0.98027	4.13	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.90031	0.4135	10	0.87932	D	0	-41.7365	18.4819	0.90815	0.0:0.0:1.0:0.0	.	632;678;643;664;643	B4DIU6;B4E2A6;Q2T9F7;B0QY62;Q9UH99	.;.;.;.;SUN2_HUMAN	H	643;643;664;643;632;116	ENSP00000385740:P643H;ENSP00000216064:P643H;ENSP00000385616:P664H;ENSP00000383992:P643H;ENSP00000395601:P632H;ENSP00000390154:P116H	ENSP00000216064:P643H	P	-	2	0	SUN2	37464557	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	9.840000	0.99478	2.460000	0.83146	0.650000	0.86243	CCC	SUN2	-	pfam_Sad1_UNC_C,superfamily_Galactose-bd-like	ENSG00000100242		0.612	SUN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUN2	HGNC	protein_coding	OTTHUMT00000321057.1	-	0.00	70	0	G	XM_039332		39134611	-1	tier1	-	no_errors	ENST00000216064	ensembl	human	known	74_37	missense	8.33	44	4	SNP	1.000	T
SUPT6H	6830	genome.wustl.edu	37	17	27003311	27003311	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr17:27003311C>T	ENST00000314616.6	+	7	1043	c.760C>T	c.(760-762)Cgc>Tgc	p.R254C	SUPT6H_ENST00000347486.4_Missense_Mutation_p.R254C	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	254	Interaction with IWS1. {ECO:0000250}.|Interaction with PAAF1.				chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					AATCCGAGTGCGCCCCAAGAA	0.463																																																	0													135.0	131.0	132.0					17																	27003311		2203	4300	6503	SO:0001583	missense	0			U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"""SH2 domain containing"""	11470	protein-coding gene	gene with protein product		601333	"""suppressor of Ty (S.cerevisiae) 6 homolog"""			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.760C>T	17.37:g.27003311C>T	ENSP00000319104:p.Arg254Cys		A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Missense_Mutation	SNP	pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_SH2,superfamily_NA-bd_OB-fold,smart_YqgF/RNaseH-like_dom,smart_RNA-binding_domain_S1,smart_SH2,pirsf_TF_Spt6,pfscan_SH2,pfscan_Rbsml_prot_S1_RNA-bd_dom	p.R254C	ENST00000314616.6	37	c.760	CCDS32596.1	17	.	.	.	.	.	.	.	.	.	.	C	35	5.435255	0.96150	.	.	ENSG00000109111	ENST00000314616;ENST00000347486	.	.	.	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.74344	0.3704	L	0.58810	1.83	0.80722	D	1	D	0.89917	1.0	P	0.59221	0.854	T	0.75473	-0.3305	9	0.59425	D	0.04	-12.1193	19.1693	0.93570	0.0:1.0:0.0:0.0	.	254	Q7KZ85	SPT6H_HUMAN	C	254	.	ENSP00000319104:R254C	R	+	1	0	SUPT6H	24027438	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.242000	0.78210	2.625000	0.88918	0.655000	0.94253	CGC	SUPT6H	-	pirsf_TF_Spt6	ENSG00000109111		0.463	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SUPT6H	HGNC	protein_coding	OTTHUMT00000446422.2		0.00	60	0	C	NM_003170		27003311	+1			no_errors	ENST00000314616	ensembl	human	known	74_37	missense	9.76	37	4	SNP	1.000	T
SYNE1	23345	genome.wustl.edu	37	6	152746668	152746668	+	Silent	SNP	T	T	C			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr6:152746668T>C	ENST00000367255.5	-	39	5716	c.5115A>G	c.(5113-5115)gaA>gaG	p.E1705E	SYNE1_ENST00000423061.1_Silent_p.E1712E|SYNE1_ENST00000341594.5_Intron|SYNE1_ENST00000265368.4_Silent_p.E1705E|SYNE1_ENST00000448038.1_Splice_Site	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1705					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GGGATACAACTTCATTTTGCA	0.413										HNSCC(10;0.0054)																																							0													90.0	86.0	87.0					6																	152746668		2203	4300	6503	SO:0001819	synonymous_variant	0			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.5115A>G	6.37:g.152746668T>C			E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Splice_Site	SNP	-	e38-2	ENST00000367255.5	37	c.5138-2	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	T	9.383	1.073476	0.20147	.	.	ENSG00000131018	ENST00000448038	.	.	.	5.72	3.04	0.35103	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.4905	0.16773	0.1642:0.1649:0.0:0.6709	.	.	.	.	.	-1	.	.	.	-	.	.	SYNE1	152788361	0.034000	0.19679	0.556000	0.28293	0.250000	0.25880	0.101000	0.15251	1.012000	0.39366	0.523000	0.50628	.	SYNE1	-	-	ENSG00000131018		0.413	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	-	0.00	59	0	T	NM_182961		152746668	-1	tier1	-	no_errors	ENST00000448038	ensembl	human	known	74_37	splice_site	57.14	30	40	SNP	0.607	C
SYNE1	23345	genome.wustl.edu	37	6	152751730	152751730	+	Missense_Mutation	SNP	A	A	C			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr6:152751730A>C	ENST00000367255.5	-	35	5177	c.4576T>G	c.(4576-4578)Ttg>Gtg	p.L1526V	SYNE1_ENST00000367253.4_Missense_Mutation_p.L1526V|SYNE1_ENST00000423061.1_Missense_Mutation_p.L1533V|SYNE1_ENST00000341594.5_Missense_Mutation_p.L1596V|SYNE1_ENST00000265368.4_Missense_Mutation_p.L1526V|SYNE1_ENST00000448038.1_Missense_Mutation_p.L1533V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1526					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATTTGTGTCAACTTGGCTTTA	0.423										HNSCC(10;0.0054)																																							0													165.0	164.0	164.0					6																	152751730		2203	4300	6503	SO:0001583	missense	0			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.4576T>G	6.37:g.152751730A>C	ENSP00000356224:p.Leu1526Val		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.L1526V	ENST00000367255.5	37	c.4576	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	A	15.73	2.920124	0.52653	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253	T;T;T;T;T;T	0.56103	1.04;1.04;1.04;1.04;0.48;1.04	5.66	-0.995	0.10222	.	0.000000	0.48767	D	0.000173	T	0.47801	0.1465	M	0.61703	1.905	0.80722	D	1	D;D;D;D;D	0.69078	0.966;0.997;0.98;0.997;0.997	P;P;P;P;P	0.61722	0.583;0.746;0.701;0.746;0.893	T	0.52426	-0.8577	10	0.72032	D	0.01	.	7.5727	0.27918	0.3964:0.0:0.4792:0.1243	.	1509;1526;1526;1526;1533	B3W695;Q8NF91;Q8NF91-6;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.	V	1526;1533;1526;1533;1596;1526	ENSP00000356224:L1526V;ENSP00000396024:L1533V;ENSP00000265368:L1526V;ENSP00000390975:L1533V;ENSP00000341887:L1596V;ENSP00000356222:L1526V	ENSP00000265368:L1526V	L	-	1	2	SYNE1	152793423	0.991000	0.36638	0.991000	0.47740	0.989000	0.77384	0.217000	0.17603	-0.307000	0.08804	-0.274000	0.10170	TTG	SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin	ENSG00000131018		0.423	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	-	0.00	44	0	A	NM_182961		152751730	-1	tier1	-	no_errors	ENST00000265368	ensembl	human	known	74_37	missense	17.24	47	10	SNP	0.990	C
TAF2	6873	genome.wustl.edu	37	8	120795685	120795685	+	Missense_Mutation	SNP	T	T	G			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr8:120795685T>G	ENST00000378164.2	-	16	2346	c.2048A>C	c.(2047-2049)gAt>gCt	p.D683A		NM_003184.3	NP_003175	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	683					G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to organic cyclic compound (GO:0014070)|transcription initiation from RNA polymerase II promoter (GO:0006367)	transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	metallopeptidase activity (GO:0008237)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TTCTAATATATCAGTGAGTGC	0.413																																																	0													112.0	114.0	113.0					8																	120795685		2203	4300	6503	SO:0001583	missense	0			AF040701	CCDS34937.1	8q24	2012-07-18	2002-08-29	2001-12-07	ENSG00000064313	ENSG00000064313			11536	protein-coding gene	gene with protein product		604912	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, B, 150kD"""	TAF2B		9774672, 9418870	Standard	NM_003184		Approved	TAFII150, CIF150	uc003you.3	Q6P1X5	OTTHUMG00000165009	ENST00000378164.2:c.2048A>C	8.37:g.120795685T>G	ENSP00000367406:p.Asp683Ala		B2RE82|O43487|O43604|O60668|Q86WW7|Q8IWK4	Missense_Mutation	SNP	pfam_Peptidase_M1_N,superfamily_ARM-type_fold	p.D683A	ENST00000378164.2	37	c.2048	CCDS34937.1	8	.	.	.	.	.	.	.	.	.	.	T	30	5.058000	0.93846	.	.	ENSG00000064313	ENST00000378164	T	0.53423	0.62	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.66257	0.2771	M	0.77820	2.39	0.80722	D	1	D	0.55800	0.973	P	0.57468	0.821	T	0.68930	-0.5279	10	0.54805	T	0.06	-30.2498	16.6407	0.85098	0.0:0.0:0.0:1.0	.	683	Q6P1X5	TAF2_HUMAN	A	683	ENSP00000367406:D683A	ENSP00000367406:D683A	D	-	2	0	TAF2	120864866	1.000000	0.71417	0.975000	0.42487	0.906000	0.53458	6.267000	0.72546	2.326000	0.78906	0.533000	0.62120	GAT	TAF2	-	NULL	ENSG00000064313		0.413	TAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF2	HGNC	protein_coding	OTTHUMT00000381436.1	-	0.00	45	0	T	NM_003184		120795685	-1	tier1	-	no_errors	ENST00000378164	ensembl	human	known	74_37	missense	23.76	77	24	SNP	1.000	G
TBC1D21	161514	genome.wustl.edu	37	15	74177204	74177204	+	Silent	SNP	C	C	T			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr15:74177204C>T	ENST00000300504.2	+	5	533	c.450C>T	c.(448-450)ctC>ctT	p.L150L	TBC1D21_ENST00000535547.2_Silent_p.L114L|TBC1D21_ENST00000562056.1_Intron	NM_153356.1	NP_699187.1	Q8IYX1	TBC21_HUMAN	TBC1 domain family, member 21	150	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.					acrosomal vesicle (GO:0001669)|extracellular vesicular exosome (GO:0070062)	Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	17						AGATCCTGCTCCTGAGTTACG	0.557																																																	0													102.0	88.0	93.0					15																	74177204		2198	4297	6495	SO:0001819	synonymous_variant	0			BC033516	CCDS10252.1, CCDS66822.1	15q24	2013-07-09			ENSG00000167139	ENSG00000167139			28536	protein-coding gene	gene with protein product	"""male germ cell-specific expressed, containing a RabGAP domain"""					21128978	Standard	XR_243080		Approved	MGC34741, MgcRabGAP	uc002avz.3	Q8IYX1	OTTHUMG00000137594	ENST00000300504.2:c.450C>T	15.37:g.74177204C>T			B9A6M2	Silent	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.L150	ENST00000300504.2	37	c.450	CCDS10252.1	15																																																																																			TBC1D21	-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	ENSG00000167139		0.557	TBC1D21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D21	HGNC	protein_coding	OTTHUMT00000268994.1	-	0.00	42	0	C	NM_153356		74177204	+1	tier1	-	no_errors	ENST00000300504	ensembl	human	known	74_37	silent	38.64	27	17	SNP	0.947	T
TBC1D9	23158	genome.wustl.edu	37	4	141580817	141580817	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr4:141580817C>T	ENST00000442267.2	-	11	1920	c.1846G>A	c.(1846-1848)Gag>Aag	p.E616K		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	616	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				GCTTCCTCCTCTTTGGCATAA	0.408																																																	0													59.0	62.0	61.0					4																	141580817		2081	4227	6308	SO:0001583	missense	0			AB020689	CCDS47136.1	4q31.1	2013-01-10	2006-07-12		ENSG00000109436	ENSG00000109436		"""EF-hand domain containing"""	21710	protein-coding gene	gene with protein product			"""TBC1 domain family, member 9"""			12970790	Standard	NM_015130		Approved	KIAA0882, MDR1	uc010ioj.3	Q6ZT07	OTTHUMG00000161405	ENST00000442267.2:c.1846G>A	4.37:g.141580817C>T	ENSP00000411197:p.Glu616Lys		A6H8U8|D3DNZ1|O94958	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_hand_dom,pfscan_Rab-GTPase-TBC_dom	p.E616K	ENST00000442267.2	37	c.1846	CCDS47136.1	4	.	.	.	.	.	.	.	.	.	.	C	36	5.808910	0.96967	.	.	ENSG00000109436	ENST00000442267	T	0.13538	2.58	5.62	5.62	0.85841	Rab-GAP/TBC domain (4);	0.000000	0.85682	D	0.000000	T	0.52386	0.1731	H	0.94582	3.555	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.66035	-0.6023	10	0.87932	D	0	.	19.6768	0.95939	0.0:1.0:0.0:0.0	.	616	Q6ZT07	TBCD9_HUMAN	K	616	ENSP00000411197:E616K	ENSP00000411197:E616K	E	-	1	0	TBC1D9	141800267	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.818000	0.86416	2.634000	0.89283	0.655000	0.94253	GAG	TBC1D9	-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	ENSG00000109436		0.408	TBC1D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D9	HGNC	protein_coding	OTTHUMT00000364806.1	-	0.00	49	0	C	NM_015130		141580817	-1	tier1	-	no_errors	ENST00000442267	ensembl	human	known	74_37	missense	38.78	30	19	SNP	1.000	T
TCAM1P	146771	genome.wustl.edu	37	17	61939715	61939715	+	RNA	SNP	C	C	A			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr17:61939715C>A	ENST00000478379.1	+	0	1486					NR_002947.2				testicular cell adhesion molecule 1, pseudogene																		ATGGAACACACGCTCGCCTGC	0.542																																																	0																																												0			AB026156		17q23.3	2013-09-26	2012-12-07	2010-03-12	ENSG00000240280	ENSG00000240280			30707	pseudogene	pseudogene		612756	"""testicular cell adhesion molecule 1 homolog (mouse)"", ""testicular cell adhesion molecule 1 homolog (mouse), pseudogene"""	TCAM1		11195349, 2744760, 19766163	Standard	NR_002947		Approved		uc031rdl.1		OTTHUMG00000154404		17.37:g.61939715C>A				RNA	SNP	-	NULL	ENST00000478379.1	37	NULL		17																																																																																			TCAM1P	-	-	ENSG00000240280		0.542	TCAM1P-002	KNOWN	basic	processed_transcript	TCAM1P	HGNC	pseudogene	OTTHUMT00000335083.1		0.00	40	0	C			61939715	+1			no_errors	ENST00000478379	ensembl	human	known	74_37	rna	10.34	52	6	SNP	0.037	A
TDRD15	100129278	genome.wustl.edu	37	2	21363593	21363593	+	Missense_Mutation	SNP	T	T	G			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr2:21363593T>G	ENST00000405799.1	+	4	3584	c.3254T>G	c.(3253-3255)cTt>cGt	p.L1085R				B5MCY1	TDR15_HUMAN	tudor domain containing 15	1085							hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)										TTGTCAGATCTTAGGGATGTA	0.373																																																	0																																										SO:0001583	missense	0					2p24.1	2013-01-23	2013-01-23	2013-01-23	ENSG00000218819	ENSG00000218819		"""Tudor domain containing"""	45037	protein-coding gene	gene with protein product							Standard	XR_425376		Approved			B5MCY1	OTTHUMG00000151795	ENST00000405799.1:c.3254T>G	2.37:g.21363593T>G	ENSP00000384376:p.Leu1085Arg			Missense_Mutation	SNP	pfam_Tudor,superfamily_Staphylococal_nuclease_OB-fold,smart_Tudor,pfscan_Tudor	p.L1085R	ENST00000405799.1	37	c.3254		2	.	.	.	.	.	.	.	.	.	.	T	18.30	3.594514	0.66219	.	.	ENSG00000218819	ENST00000405799	T	0.15834	2.39	5.39	5.39	0.77823	.	.	.	.	.	T	0.34832	0.0911	.	.	.	.	.	.	.	.	.	.	.	.	T	0.38650	-0.9651	5	0.54805	T	0.06	-5.9226	15.4218	0.75018	0.0:0.0:0.0:1.0	.	.	.	.	R	1085	ENSP00000384376:L1085R	ENSP00000384376:L1085R	L	+	2	0	AC010872.2	21217098	0.999000	0.42202	1.000000	0.80357	0.976000	0.68499	5.530000	0.67141	2.051000	0.60960	0.383000	0.25322	CTT	TDRD15	-	NULL	ENSG00000218819		0.373	TDRD15-001	NOVEL	basic|appris_principal|exp_conf	protein_coding	TDRD15	HGNC	protein_coding	OTTHUMT00000323948.1	-	0.00	90	0	T			21363593	+1	tier1	-	no_errors	ENST00000405799	ensembl	human	novel	74_37	missense	44.25	62	50	SNP	0.994	G
TDRD15	100129278	genome.wustl.edu	37	2	21364417	21364417	+	Missense_Mutation	SNP	T	T	A			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr2:21364417T>A	ENST00000405799.1	+	4	4408	c.4078T>A	c.(4078-4080)Tac>Aac	p.Y1360N				B5MCY1	TDR15_HUMAN	tudor domain containing 15	1360	Tudor 6. {ECO:0000255|PROSITE- ProRule:PRU00211}.						hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)										CAATGCCATTTACAGGGCAGT	0.348																																																	0																																										SO:0001583	missense	0					2p24.1	2013-01-23	2013-01-23	2013-01-23	ENSG00000218819	ENSG00000218819		"""Tudor domain containing"""	45037	protein-coding gene	gene with protein product							Standard	XR_425376		Approved			B5MCY1	OTTHUMG00000151795	ENST00000405799.1:c.4078T>A	2.37:g.21364417T>A	ENSP00000384376:p.Tyr1360Asn			Missense_Mutation	SNP	pfam_Tudor,superfamily_Staphylococal_nuclease_OB-fold,smart_Tudor,pfscan_Tudor	p.Y1360N	ENST00000405799.1	37	c.4078		2	.	.	.	.	.	.	.	.	.	.	T	15.50	2.851289	0.51270	.	.	ENSG00000218819	ENST00000405799	T	0.13778	2.56	4.97	4.97	0.65823	.	.	.	.	.	T	0.29556	0.0737	.	.	.	.	.	.	.	.	.	.	.	.	T	0.34254	-0.9836	5	0.56958	D	0.05	-25.007	14.644	0.68745	0.0:0.0:0.0:1.0	.	.	.	.	N	1360	ENSP00000384376:Y1360N	ENSP00000384376:Y1360N	Y	+	1	0	AC010872.2	21217922	1.000000	0.71417	0.966000	0.40874	0.297000	0.27493	7.489000	0.81451	1.874000	0.54306	0.374000	0.22700	TAC	TDRD15	-	pfam_Tudor,smart_Tudor,pfscan_Tudor	ENSG00000218819		0.348	TDRD15-001	NOVEL	basic|appris_principal|exp_conf	protein_coding	TDRD15	HGNC	protein_coding	OTTHUMT00000323948.1	-	0.00	33	0	T			21364417	+1	tier1	-	no_errors	ENST00000405799	ensembl	human	novel	74_37	missense	63.04	17	29	SNP	0.996	A
TGFBR2	7048	genome.wustl.edu	37	3	30664745	30664745	+	Intron	SNP	C	C	T			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr3:30664745C>T	ENST00000295754.5	+	1	476				TGFBR2_ENST00000359013.4_Missense_Mutation_p.T50I	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)						activation of protein kinase activity (GO:0032147)|aging (GO:0007568)|apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|cartilage development (GO:0051216)|common-partner SMAD protein phosphorylation (GO:0007182)|digestive tract development (GO:0048565)|embryo implantation (GO:0007566)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic hemopoiesis (GO:0035162)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lens development in camera-type eye (GO:0002088)|lens fiber cell apoptotic process (GO:1990086)|lung lobe morphogenesis (GO:0060463)|mammary gland morphogenesis (GO:0060443)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell tolerance induction (GO:0002663)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of tolerance induction to self antigen (GO:0002651)|protein phosphorylation (GO:0006468)|receptor-mediated endocytosis (GO:0006898)|regulation of cell proliferation (GO:0042127)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|smoothened signaling pathway (GO:0007224)|trachea formation (GO:0060440)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|wound healing (GO:0042060)	caveola (GO:0005901)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|glycosaminoglycan binding (GO:0005539)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type II (GO:0005026)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|type I transforming growth factor beta receptor binding (GO:0034713)|type III transforming growth factor beta receptor binding (GO:0034714)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						TGTAATAGGACTGCCCATCCA	0.353																																																	0													68.0	65.0	66.0					3																	30664745		2201	4299	6500	SO:0001627	intron_variant	0				CCDS2648.1, CCDS33727.1	3p22	2014-09-17	2002-08-29		ENSG00000163513	ENSG00000163513			11773	protein-coding gene	gene with protein product		190182	"""transforming growth factor, beta receptor II (70-80kD)"""	MFS2		1319842, 15235604	Standard	NM_001024847		Approved		uc003cen.3	P37173	OTTHUMG00000130569	ENST00000295754.5:c.94+16276C>T	3.37:g.30664745C>T			B4DTV5|Q15580|Q6DKT6|Q99474	Missense_Mutation	SNP	pirsf_Transform_growth_fac-b_typ-2,pfam_Transforming_GF_b_rcpt_2_ecto,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_TGFB_receptor,pfscan_Prot_kinase_dom	p.T50I	ENST00000295754.5	37	c.149	CCDS2648.1	3	.	.	.	.	.	.	.	.	.	.	C	12.62	1.993551	0.35131	.	.	ENSG00000163513	ENST00000359013	D	0.85088	-1.94	3.09	1.22	0.21188	.	0.940103	0.08894	N	0.878148	T	0.70745	0.3259	N	0.14661	0.345	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.58515	-0.7623	10	0.52906	T	0.07	.	4.2244	0.10574	0.0:0.6227:0.2406:0.1367	.	50	D2JYI1	.	I	50	ENSP00000351905:T50I	ENSP00000351905:T50I	T	+	2	0	TGFBR2	30639749	0.359000	0.24955	0.024000	0.17045	0.958000	0.62258	0.310000	0.19356	0.301000	0.22738	0.655000	0.94253	ACT	TGFBR2	-	pirsf_Transform_growth_fac-b_typ-2	ENSG00000163513		0.353	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGFBR2	HGNC	protein_coding	OTTHUMT00000252994.2	-	0.00	84	0	C			30664745	+1	tier1	-	no_errors	ENST00000359013	ensembl	human	known	74_37	missense	36.49	47	27	SNP	0.053	T
TMEFF1	8577	genome.wustl.edu	37	9	103271286	103271286	+	Splice_Site	SNP	G	G	T			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr9:103271286G>T	ENST00000374879.4	+	3	738		c.e3-1		MSANTD3-TMEFF1_ENST00000502978.1_Splice_Site|TMEFF1_ENST00000334943.6_Splice_Site	NM_003692.4	NP_003683.2	Q8IYR6	TEFF1_HUMAN	transmembrane protein with EGF-like and two follistatin-like domains 1						multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|kidney(1)|large_intestine(7)|lung(9)|stomach(1)	19		Acute lymphoblastic leukemia(62;0.0452)				TGCTTTTGCAGTGCCATACAA	0.348																																																	0													101.0	98.0	99.0					9																	103271286		2203	4300	6503	SO:0001630	splice_region_variant	0			U19878	CCDS6750.1	9q31	2010-05-04			ENSG00000241697	ENSG00000241697			11866	protein-coding gene	gene with protein product	"""tomoregulin-1"", ""cancer/testis antigen family 120, member 1"""	603421		C9orf2		9730596	Standard	NM_003692		Approved	H7365, CT120.1		Q8IYR6	OTTHUMG00000020367	ENST00000374879.4:c.307-1G>T	9.37:g.103271286G>T			Q13086|Q8N3T8	Splice_Site	SNP	-	e3-1	ENST00000374879.4	37	c.307-1	CCDS6750.1	9	.	.	.	.	.	.	.	.	.	.	G	21.1	4.095008	0.76870	.	.	ENSG00000251349;ENSG00000241697;ENSG00000241697	ENST00000502978;ENST00000334943;ENST00000374879	.	.	.	5.44	5.44	0.79542	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.7585	0.85506	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TMEFF1;C9orf30-TMEFF1	102311107	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.439000	0.90308	2.546000	0.85860	0.555000	0.69702	.	TMEFF1	-	-	ENSG00000241697		0.348	TMEFF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEFF1	HGNC	protein_coding	OTTHUMT00000053418.1		0.00	38	0	G	NM_003692	Intron	103271286	+1			no_errors	ENST00000374879	ensembl	human	known	74_37	splice_site	5.26	54	3	SNP	1.000	T
TMEM255A	55026	genome.wustl.edu	37	X	119402112	119402112	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chrX:119402112G>T	ENST00000309720.5	-	9	1001	c.878C>A	c.(877-879)gCt>gAt	p.A293D	TMEM255A_ENST00000371352.1_Missense_Mutation_p.A129D|TMEM255A_ENST00000440464.1_Missense_Mutation_p.A185D|TMEM255A_ENST00000371369.4_Missense_Mutation_p.A269D	NM_017938.3	NP_060408.3	Q5JRV8	T255A_HUMAN	transmembrane protein 255A	293	Pro-rich.					integral component of membrane (GO:0016021)											AAAGTCATAAGCAGAATATGG	0.418																																																	0													190.0	168.0	175.0					X																	119402112		2203	4300	6503	SO:0001583	missense	0			BC047054	CCDS14597.1, CCDS43986.1, CCDS48157.1	Xq24	2012-11-30	2012-11-30	2012-11-30	ENSG00000125355	ENSG00000125355			26086	protein-coding gene	gene with protein product			"""family with sequence similarity 70, member A"""	FAM70A		12477932	Standard	NM_017938		Approved	FLJ20716	uc004eso.4	Q5JRV8	OTTHUMG00000022298	ENST00000309720.5:c.878C>A	X.37:g.119402112G>T	ENSP00000310110:p.Ala293Asp		A8K0W9|B1APR4|B3KPI6|E9PAR3|Q86Y72|Q9NWN8	Missense_Mutation	SNP	NULL	p.A293D	ENST00000309720.5	37	c.878	CCDS14597.1	X	.	.	.	.	.	.	.	.	.	.	G	24.9	4.582548	0.86748	.	.	ENSG00000125355	ENST00000309720;ENST00000371369;ENST00000371352;ENST00000440464	T;T;T;T	0.51574	0.7;0.7;0.7;0.7	5.6	5.6	0.85130	.	0.049634	0.85682	D	0.000000	T	0.64549	0.2608	L	0.57536	1.79	0.33575	D	0.599095	B;P;D	0.67145	0.013;0.739;0.996	B;P;D	0.63703	0.022;0.531;0.917	T	0.74734	-0.3565	10	0.66056	D	0.02	-14.0703	17.4634	0.87626	0.0:0.0:1.0:0.0	.	185;269;293	E9PAR3;B1APR4;Q5JRV8	.;.;FA70A_HUMAN	D	293;269;129;185	ENSP00000310110:A293D;ENSP00000360420:A269D;ENSP00000360403:A129D;ENSP00000405781:A185D	ENSP00000310110:A293D	A	-	2	0	FAM70A	119286140	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.329000	0.96413	2.338000	0.79540	0.594000	0.82650	GCT	TMEM255A	-	NULL	ENSG00000125355		0.418	TMEM255A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TMEM255A	HGNC	protein_coding	OTTHUMT00000058091.1	-	0.00	43	0	G	NM_017938		119402112	-1	tier1	-	no_errors	ENST00000309720	ensembl	human	known	74_37	missense	10.81	33	4	SNP	1.000	T
TNKS1BP1	85456	genome.wustl.edu	37	11	57085349	57085349	+	Silent	SNP	G	G	A			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr11:57085349G>A	ENST00000532437.1	-	3	1052	c.741C>T	c.(739-741)tcC>tcT	p.S247S	TNKS1BP1_ENST00000358252.3_Silent_p.S247S			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	247	Acidic.|Pro-rich.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|RNA metabolic process (GO:0016070)|telomere maintenance via telomerase (GO:0007004)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear telomeric heterochromatin (GO:0005724)|nucleus (GO:0005634)	ankyrin binding (GO:0030506)|enzyme binding (GO:0019899)			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				AGGCCAGGTCGGAAGGAAGGC	0.512																																																	0													79.0	75.0	76.0					11																	57085349		2201	4296	6497	SO:0001819	synonymous_variant	0			AB051528	CCDS7951.1	11q12.2	2008-07-21			ENSG00000149115	ENSG00000149115			19081	protein-coding gene	gene with protein product		607104				11854288	Standard	NM_033396		Approved	TAB182, KIAA1741, FLJ45975	uc001njs.3	Q9C0C2	OTTHUMG00000167022	ENST00000532437.1:c.741C>T	11.37:g.57085349G>A			A7E2F8|Q6PJ35|Q6ZV74	Silent	SNP	NULL	p.S247	ENST00000532437.1	37	c.741	CCDS7951.1	11																																																																																			TNKS1BP1	-	NULL	ENSG00000149115		0.512	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TNKS1BP1	HGNC	protein_coding	OTTHUMT00000392455.1	-	0.00	30	0	G	NM_033396		57085349	-1	tier1	-	no_errors	ENST00000358252	ensembl	human	known	74_37	silent	59.38	13	19	SNP	0.000	A
TP53	7157	genome.wustl.edu	37	17	7577094	7577094	+	Missense_Mutation	SNP	G	G	A	rs28934574		TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr17:7577094G>A	ENST00000269305.4	-	8	1033	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	TP53_ENST00000455263.2_Missense_Mutation_p.R282W|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.R282W|TP53_ENST00000445888.2_Missense_Mutation_p.R282W|TP53_ENST00000359597.4_Missense_Mutation_p.R282W	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	282	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|Ref.22}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; dbSNP:rs28934574). {ECO:0000269|PubMed:8829627}.		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.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)	TCTGTGCGCCGGTCTCTCCCA	0.557		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"""	463	Substitution - Missense(430)|Whole gene deletion(8)|Deletion - In frame(6)|Deletion - Frameshift(5)|Insertion - Frameshift(4)|Substitution - coding silent(3)|Unknown(2)|Complex - frameshift(2)|Complex - compound substitution(2)|Insertion - In frame(1)	large_intestine(136)|oesophagus(49)|upper_aerodigestive_tract(43)|stomach(33)|central_nervous_system(29)|breast(29)|lung(26)|ovary(21)|skin(20)|urinary_tract(16)|haematopoietic_and_lymphoid_tissue(16)|pancreas(10)|biliary_tract(5)|liver(5)|bone(5)|vulva(4)|prostate(4)|endometrium(3)|peritoneum(2)|thyroid(2)|NS(2)|autonomic_ganglia(1)|soft_tissue(1)|salivary_gland(1)	GRCh37	CM056413|CM920678	TP53	M	rs28934574	G	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	83.0	71.0	75.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	844,844,844,844,448,448,448	1.5	0.3	17	dbSNP_125	75	2,8598	2.2+/-6.3	1,0,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	101,101,101,101,101,101,101	1,0,6502	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	282/394,282/394,282/347,282/342,150/262,150/210,150/215	7577094	2,13004	2203	4300	6503	SO:0001583	missense	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.844C>T	17.37:g.7577094G>A	ENSP00000269305:p.Arg282Trp		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	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R282W	ENST00000269305.4	37	c.844	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	20.8	4.057525	0.76074	0.0	2.33E-4	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.75	1.49	0.22878	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99825	0.9922	M	0.89968	3.075	0.58432	A	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.998;1.0;0.999	D	0.97713	1.0192	9	0.87932	D	0	-12.0909	8.7508	0.34613	0.0:0.1376:0.5833:0.2792	rs28934574	282;282;282;282	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	W	282;282;282;282;282;271;150	ENSP00000352610:R282W;ENSP00000269305:R282W;ENSP00000398846:R282W;ENSP00000391127:R282W;ENSP00000391478:R282W;ENSP00000425104:R150W	ENSP00000269305:R282W	R	-	1	2	TP53	7517819	1.000000	0.71417	0.327000	0.25402	0.901000	0.52897	4.477000	0.60223	0.174000	0.19809	0.462000	0.41574	CGG	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0.00	47	0	G	NM_000546		7577094	-1	tier1	rs28934574	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	73.17	11	30	SNP	0.997	A
TRIM28	10155	genome.wustl.edu	37	19	59060995	59060995	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr19:59060995C>T	ENST00000253024.5	+	13	2249	c.1960C>T	c.(1960-1962)Ccg>Tcg	p.P654S	TRIM28_ENST00000341753.6_Missense_Mutation_p.P572S	NM_005762.2	NP_005753.1	Q13263	TIF1B_HUMAN	tripartite motif containing 28	654					convergent extension involved in axis elongation (GO:0060028)|DNA repair (GO:0006281)|embryonic placenta morphogenesis (GO:0060669)|epithelial to mesenchymal transition (GO:0001837)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of DNA repair (GO:0045739)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein sumoylation (GO:0016925)|protein ubiquitination (GO:0016567)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|Krueppel-associated box domain binding (GO:0035851)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		CTGTCACCTGCCGGCCCTGCA	0.557																																																	0													106.0	105.0	106.0					19																	59060995		2203	4300	6503	SO:0001583	missense	0				CCDS12985.1	19q13.4	2014-06-13	2011-01-25			ENSG00000130726		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	16384	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 157"""	601742	"""tripartite motif-containing 28"""			11331580, 11226167	Standard	NM_005762		Approved	TIF1B, KAP1, TF1B, RNF96, PPP1R157	uc002qtg.1	Q13263		ENST00000253024.5:c.1960C>T	19.37:g.59060995C>T	ENSP00000253024:p.Pro654Ser		O00677|Q7Z632|Q93040|Q96IM1	Missense_Mutation	SNP	pfam_Znf_B-box,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_B-box,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.P654S	ENST00000253024.5	37	c.1960	CCDS12985.1	19	.	.	.	.	.	.	.	.	.	.	C	18.60	3.659568	0.67586	.	.	ENSG00000130726	ENST00000253024;ENST00000341753	D;D	0.85484	-1.99;-1.99	4.7	4.7	0.59300	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, RING-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.072552	0.52532	D	0.000066	D	0.92001	0.7466	M	0.78916	2.43	0.48830	D	0.999714	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.998;0.995;0.999	D	0.93063	0.6476	10	0.87932	D	0	-9.0923	15.5749	0.76368	0.0:1.0:0.0:0.0	.	572;654;654	Q13263-2;B2R8R5;Q13263	.;.;TIF1B_HUMAN	S	654;572	ENSP00000253024:P654S;ENSP00000342232:P572S	ENSP00000253024:P654S	P	+	1	0	TRIM28	63752807	1.000000	0.71417	0.997000	0.53966	0.581000	0.36288	4.054000	0.57434	2.347000	0.79759	0.436000	0.28706	CCG	TRIM28	-	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Znf_RING,pfscan_Znf_PHD-finger	ENSG00000130726		0.557	TRIM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM28	HGNC	protein_coding	OTTHUMT00000467074.1	-	0.00	43	0	C	NM_005762		59060995	+1	tier1	-	no_errors	ENST00000253024	ensembl	human	known	74_37	missense	8.51	43	4	SNP	1.000	T
TRIM42	287015	genome.wustl.edu	37	3	140407140	140407140	+	Missense_Mutation	SNP	T	T	A			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr3:140407140T>A	ENST00000286349.3	+	3	1807	c.1616T>A	c.(1615-1617)aTg>aAg	p.M539K		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	539						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						AGCTCCTCCATGTTGTCCTTC	0.587																																																	0													91.0	82.0	85.0					3																	140407140		2203	4300	6503	SO:0001583	missense	0			AF521868	CCDS3113.1	3q23	2014-02-17	2011-01-25		ENSG00000155890	ENSG00000155890		"""Tripartite motif containing / Tripartite motif containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"", ""RING-type (C3HC4) zinc fingers"""	19014	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 40"""		"""tripartite motif-containing 42"""				Standard	NM_152616		Approved	FLJ40097, PPP1R40	uc003eto.2	Q8IWZ5	OTTHUMG00000160170	ENST00000286349.3:c.1616T>A	3.37:g.140407140T>A	ENSP00000286349:p.Met539Lys		A1L4B4|Q8N832|Q8NDL3	Missense_Mutation	SNP	pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Znf_B-box,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING	p.M539K	ENST00000286349.3	37	c.1616	CCDS3113.1	3	.	.	.	.	.	.	.	.	.	.	T	6.939	0.543078	0.13250	.	.	ENSG00000155890	ENST00000286349	T	0.36878	1.23	5.52	3.12	0.35913	.	0.758882	0.11290	N	0.579325	T	0.18509	0.0444	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.17471	-1.0368	10	0.33141	T	0.24	-13.0578	7.4514	0.27240	0.0:0.1795:0.0:0.8205	.	539	Q8IWZ5	TRI42_HUMAN	K	539	ENSP00000286349:M539K	ENSP00000286349:M539K	M	+	2	0	TRIM42	141889830	0.821000	0.29204	0.273000	0.24645	0.192000	0.23643	1.590000	0.36654	1.042000	0.40150	0.533000	0.62120	ATG	TRIM42	-	NULL	ENSG00000155890		0.587	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM42	HGNC	protein_coding	OTTHUMT00000359531.2		0.00	52	0	T	NM_152616		140407140	+1			no_errors	ENST00000286349	ensembl	human	known	74_37	missense	11.76	30	4	SNP	0.210	A
TRIM46	80128	genome.wustl.edu	37	1	155156434	155156434	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr1:155156434G>A	ENST00000334634.4	+	10	2048	c.2048G>A	c.(2047-2049)tGc>tAc	p.C683Y	MUC1_ENST00000462215.1_5'Flank|TRIM46_ENST00000392451.2_3'UTR|TRIM46_ENST00000368382.1_Missense_Mutation_p.C660Y|TRIM46_ENST00000545012.1_Missense_Mutation_p.C557Y|TRIM46_ENST00000468878.1_3'UTR|RP11-201K10.3_ENST00000473363.2_Intron	NM_001256601.1|NM_001282378.1	NP_001243530.1|NP_001269307.1	Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46	683	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			ACAGCCGGCTGCACAGTGCCC	0.647																																																	0													69.0	69.0	69.0					1																	155156434		2203	4300	6503	SO:0001583	missense	0				CCDS1097.1, CCDS58033.1, CCDS60285.1, CCDS72932.1, CCDS72931.1	1q22	2013-01-09	2011-01-25		ENSG00000163462	ENSG00000163462		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19019	protein-coding gene	gene with protein product		600986	"""tripartite motif-containing 46"""				Standard	NM_025058		Approved	FLJ23229, TRIFIC	uc001fhs.2	Q7Z4K8	OTTHUMG00000035680	ENST00000334634.4:c.2048G>A	1.37:g.155156434G>A	ENSP00000334657:p.Cys683Tyr		A0AVI6|B1AVQ4|Q5VT60|Q5VT62|Q6NT17|Q6NT41|Q6ZRL7|Q9H5P2	Missense_Mutation	SNP	pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box	p.C683Y	ENST00000334634.4	37	c.2048	CCDS1097.1	1	.	.	.	.	.	.	.	.	.	.	G	0.019	-1.464650	0.01053	.	.	ENSG00000163462	ENST00000430513;ENST00000545012;ENST00000368382;ENST00000334634	T;T;T	0.59906	0.23;0.23;0.23	4.19	4.19	0.49359	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);	0.356526	0.27092	N	0.020971	T	0.15089	0.0364	N	0.08118	0	0.35587	D	0.806761	B	0.20780	0.048	B	0.24541	0.054	T	0.07654	-1.0761	10	0.02654	T	1	.	12.404	0.55428	0.0:0.0:1.0:0.0	.	683	Q7Z4K8	TRI46_HUMAN	Y	641;557;660;683	ENSP00000440254:C557Y;ENSP00000357366:C660Y;ENSP00000334657:C683Y	ENSP00000334657:C683Y	C	+	2	0	TRIM46	153423058	1.000000	0.71417	1.000000	0.80357	0.408000	0.30992	4.383000	0.59600	2.065000	0.61736	0.313000	0.20887	TGC	TRIM46	-	superfamily_ConA-like_lec_gl_sf,pfscan_B30.2/SPRY	ENSG00000163462		0.647	TRIM46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM46	HGNC	protein_coding	OTTHUMT00000086728.1	-	0.00	66	0	G	NM_025058		155156434	+1	tier1	-	no_errors	ENST00000334634	ensembl	human	known	74_37	missense	6.76	69	5	SNP	1.000	A
TRPC1	7220	genome.wustl.edu	37	3	142467210	142467210	+	Silent	SNP	A	A	G			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr3:142467210A>G	ENST00000476941.1	+	4	1026	c.540A>G	c.(538-540)aaA>aaG	p.K180K	TRPC1_ENST00000273482.6_Silent_p.K146K	NM_001251845.1	NP_001238774.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	180					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|response to calcium ion (GO:0051592)|saliva secretion (GO:0046541)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|sarcomere (GO:0030017)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|inositol 1,4,5 trisphosphate binding (GO:0070679)|ion channel binding (GO:0044325)|store-operated calcium channel activity (GO:0015279)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						TGCTCTTAAAACAGGATGTAT	0.408																																																	0													166.0	169.0	168.0					3																	142467210		2203	4300	6503	SO:0001819	synonymous_variant	0			X89066	CCDS3126.1, CCDS58856.1	3q23	2011-12-14			ENSG00000144935	ENSG00000144935		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12333	protein-coding gene	gene with protein product		602343				7568191, 16382100	Standard	NM_001251845		Approved	HTRP-1	uc003evc.3	P48995	OTTHUMG00000159301	ENST00000476941.1:c.540A>G	3.37:g.142467210A>G			Q14CE4	Silent	SNP	pfam_TRP_dom,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC1_channel,prints_TRPC_channel,tigrfam_TRP_channel	p.K180	ENST00000476941.1	37	c.540	CCDS58856.1	3																																																																																			TRPC1	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,tigrfam_TRP_channel	ENSG00000144935		0.408	TRPC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRPC1	HGNC	protein_coding	OTTHUMT00000354520.1	-	0.00	66	0	A	NM_003304		142467210	+1	tier1	-	no_errors	ENST00000476941	ensembl	human	known	74_37	silent	6.06	62	4	SNP	0.996	G
TRPM3	80036	genome.wustl.edu	37	9	74061672	74061672	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr9:74061672C>T	ENST00000357533.2	-	1	79	c.80G>A	c.(79-81)cGc>cAc	p.R27H	TRPM3_ENST00000423814.3_Missense_Mutation_p.R27H			Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1631					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						GCTCCGGCTGCGTCTGCGGCT	0.662																																																	0																																										SO:0001583	missense	0			AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17992	protein-coding gene	gene with protein product	"""melastatin 2"""	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000357533.2:c.80G>A	9.37:g.74061672C>T	ENSP00000350140:p.Arg27His		A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	pfam_Ion_trans_dom	p.R27H	ENST00000357533.2	37	c.80		9	.	.	.	.	.	.	.	.	.	.	C	10.12	1.262356	0.23051	.	.	ENSG00000083067	ENST00000357533;ENST00000423814	T;T	0.58940	0.32;0.3	5.08	3.22	0.36961	.	0.499498	0.18587	N	0.136849	T	0.35098	0.0920	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.08432	-1.0722	9	0.13853	T	0.58	-11.2046	6.2544	0.20865	0.0:0.7117:0.0:0.2883	.	27	Q4VXD2	.	H	27	ENSP00000350140:R27H;ENSP00000389542:R27H	ENSP00000350140:R27H	R	-	2	0	TRPM3	73251492	1.000000	0.71417	1.000000	0.80357	0.060000	0.15804	2.131000	0.42074	1.144000	0.42321	-0.258000	0.10820	CGC	TRPM3	-	NULL	ENSG00000083067		0.662	TRPM3-014	PUTATIVE	not_organism_supported|basic	protein_coding	TRPM3	HGNC	protein_coding	OTTHUMT00000214163.1	-	0.00	74	0	C	NM_206945		74061672	-1	tier1	-	no_errors	ENST00000423814	ensembl	human	known	74_37	missense	56.14	50	64	SNP	0.997	T
TSHR	7253	genome.wustl.edu	37	14	81557442	81557442	+	Missense_Mutation	SNP	T	T	C			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr14:81557442T>C	ENST00000541158.2	+	6	744	c.422T>C	c.(421-423)tTc>tCc	p.F141S	TSHR_ENST00000554263.1_Missense_Mutation_p.F141S|TSHR_ENST00000298171.2_Missense_Mutation_p.F141S|TSHR_ENST00000342443.6_Missense_Mutation_p.F141S|TSHR_ENST00000554435.1_Missense_Mutation_p.F141S			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	141					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adult locomotory behavior (GO:0008344)|B cell differentiation (GO:0030183)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of locomotion (GO:0040012)|thyroid-stimulating hormone signaling pathway (GO:0038194)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	thyroid-stimulating hormone receptor activity (GO:0004996)			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	CTTAAAATGTTCCCTGACCTG	0.313			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism																																yes	Dom	yes		14	14q31	7253	thyroid stimulating hormone receptor	yes	E	0													145.0	140.0	141.0					14																	81557442		2203	4300	6503	SO:0001583	missense	0			AY429111	CCDS9872.1, CCDS32131.1, CCDS55935.1	14q24-q31	2014-09-17			ENSG00000165409	ENSG00000165409		"""GPCR / Class A : Gonadotropin and TSH receptors"""	12373	protein-coding gene	gene with protein product		603372				2558651, 2610690	Standard	NM_001018036		Approved	LGR3	uc001xvd.1	P16473		ENST00000541158.2:c.422T>C	14.37:g.81557442T>C	ENSP00000441235:p.Phe141Ser		A0PJU7|F5GYU5|G3V2A9|Q16503|Q8TB90|Q96GT6|Q9P1V4|Q9ULA3|Q9UPH3	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_TSH_rcpt,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn,prints_FSH_rcpt,prints_LSH_rcpt	p.F141S	ENST00000541158.2	37	c.422	CCDS9872.1	14	.	.	.	.	.	.	.	.	.	.	T	22.3	4.273129	0.80580	.	.	ENSG00000165409	ENST00000541158;ENST00000342443;ENST00000298171;ENST00000554263;ENST00000554435	D;D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74;-1.74	5.8	5.8	0.92144	.	0.043860	0.85682	D	0.000000	D	0.91331	0.7266	M	0.84433	2.695	0.51233	D	0.999913	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.91635	0.999;0.989;0.999;0.962	D	0.92444	0.5964	10	0.87932	D	0	.	12.5377	0.56150	0.0:0.0:0.0:1.0	.	141;141;141;141	G3V2A9;F5GYU5;P16473-2;P16473	.;.;.;TSHR_HUMAN	S	141	ENSP00000441235:F141S;ENSP00000340113:F141S;ENSP00000298171:F141S;ENSP00000451202:F141S;ENSP00000450549:F141S	ENSP00000298171:F141S	F	+	2	0	TSHR	80627195	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	5.381000	0.66208	2.221000	0.72209	0.528000	0.53228	TTC	TSHR	-	prints_TSH_rcpt	ENSG00000165409		0.313	TSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSHR	HGNC	protein_coding	OTTHUMT00000413364.1	-	0.00	29	0	T	NM_000369		81557442	+1	tier1	-	no_errors	ENST00000298171	ensembl	human	known	74_37	missense	30.95	29	13	SNP	1.000	C
TSPEAR	54084	genome.wustl.edu	37	21	45950995	45950995	+	Silent	SNP	T	T	C			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr21:45950995T>C	ENST00000323084.4	-	4	629	c.564A>G	c.(562-564)ccA>ccG	p.P188P	TSPEAR_ENST00000397916.1_Silent_p.P120P	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	188	Laminin G-like.				sensory perception of sound (GO:0007605)	cell surface (GO:0009986)|ciliary membrane (GO:0060170)|extracellular region (GO:0005576)|stereocilium (GO:0032420)				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						ACAGGGTGGCTGGGAAGGGCA	0.552																																																	0													80.0	70.0	73.0					21																	45950995		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ487962	CCDS13712.1, CCDS74801.1	21q22.3	2012-10-30	2011-01-25	2011-01-25	ENSG00000175894	ENSG00000175894			1268	protein-coding gene	gene with protein product		612920	"""chromosome 21 open reading frame 29"", ""deafness, autosomal recessive 98"""	C21orf29, DFNB98		12095917, 22678063	Standard	NM_144991		Approved	MGC11251, TSP-EAR	uc002zfe.1	Q8WU66	OTTHUMG00000041215	ENST00000323084.4:c.564A>G	21.37:g.45950995T>C				Silent	SNP	pfam_EPTP,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_EAR	p.P188	ENST00000323084.4	37	c.564	CCDS13712.1	21																																																																																			TSPEAR	-	superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	ENSG00000175894		0.552	TSPEAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPEAR	HGNC	protein_coding	OTTHUMT00000098761.1		0.00	56	0	T	NM_144991		45950995	-1			no_errors	ENST00000323084	ensembl	human	known	74_37	silent	5.36	52	3	SNP	0.000	C
TXNL4B	54957	genome.wustl.edu	37	16	72122990	72122990	+	Silent	SNP	C	C	T			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr16:72122990C>T	ENST00000268483.3	-	3	501	c.180G>A	c.(178-180)ctG>ctA	p.L60L	TXNL4B_ENST00000423037.1_Silent_p.L60L|RP11-384M15.3_ENST00000561827.1_RNA|TXNL4B_ENST00000426362.2_Silent_p.L60L	NM_001142318.1|NM_017853.2	NP_001135790.1|NP_060323.1	Q9NX01	TXN4B_HUMAN	thioredoxin-like 4B	60					mitotic nuclear division (GO:0007067)|mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	spliceosomal complex (GO:0005681)				cervix(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)	8						CCACATCTACCAGGTATATAG	0.373																																																	0													112.0	105.0	107.0					16																	72122990		2198	4300	6498	SO:0001819	synonymous_variant	0			BC009646	CCDS10906.1	16q22.2	2012-11-19			ENSG00000140830	ENSG00000140830			26041	protein-coding gene	gene with protein product						15161931	Standard	NM_017853		Approved	FLJ20511, DLP, Dim2	uc010vmn.2	Q9NX01	OTTHUMG00000173453	ENST00000268483.3:c.180G>A	16.37:g.72122990C>T			D3DWS6	Silent	SNP	pfam_mRNA_splic_U5,pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,pirsf_mRNA_splic_U5	p.L60	ENST00000268483.3	37	c.180	CCDS10906.1	16																																																																																			TXNL4B	-	pfam_mRNA_splic_U5,pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,pirsf_mRNA_splic_U5	ENSG00000140830		0.373	TXNL4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TXNL4B	HGNC	protein_coding	OTTHUMT00000269007.2	-	0.00	77	0	C	NM_017853		72122990	-1	tier1	-	no_errors	ENST00000268483	ensembl	human	known	74_37	silent	5.80	65	4	SNP	0.998	T
UBE2K	3093	genome.wustl.edu	37	4	39776478	39776478	+	Silent	SNP	G	G	T			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr4:39776478G>T	ENST00000261427.5	+	5	608	c.324G>T	c.(322-324)acG>acT	p.T108T	UBE2K_ENST00000295963.6_Intron|UBE2K_ENST00000438068.2_3'UTR|UBE2K_ENST00000503368.1_Silent_p.T57T|UBE2K_ENST00000445950.2_Silent_p.T108T	NM_001111112.1|NM_005339.4	NP_001104582.1|NP_005330.1	P61086	UBE2K_HUMAN	ubiquitin-conjugating enzyme E2K	108					intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|protein K48-linked ubiquitination (GO:0070936)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)			large_intestine(1)|lung(1)|ovary(2)	4						CTCTCCGCACGGTATTATTGT	0.418																																					NSCLC(101;689 1592 16105 29682 31745)												0													59.0	59.0	59.0					4																	39776478		2203	4300	6503	SO:0001819	synonymous_variant	0			U58522	CCDS33976.1, CCDS47043.1, CCDS47044.1	4p14	2011-05-19	2011-05-19	2007-12-04	ENSG00000078140	ENSG00000078140		"""Ubiquitin-conjugating enzymes E2"""	4914	protein-coding gene	gene with protein product		602846	"""huntingtin interacting protein 2"", ""ubiquitin-conjugating enzyme E2K (UBC1 homolog, yeast)"""	HIP2		8702625, 17873885	Standard	NM_005339		Approved	HYPG, UBC1	uc003guu.4	P61086	OTTHUMG00000160543	ENST00000261427.5:c.324G>T	4.37:g.39776478G>T			A6NJC1|A8K5Y9|B2RDF8|C9JGP1|O54806|P27924|Q16721|Q9CVV9|Q9Y2D3	Missense_Mutation	SNP	NULL	p.G30C	ENST00000261427.5	37	c.88	CCDS33976.1	4																																																																																			UBE2K	-	NULL	ENSG00000078140		0.418	UBE2K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE2K	HGNC	protein_coding	OTTHUMT00000361061.1	-	0.00	30	0	G	NM_005339		39776478	+1	tier1	-	no_errors	ENST00000510719	ensembl	human	known	74_37	missense	17.39	19	4	SNP	0.909	T
UCP3	7352	genome.wustl.edu	37	11	73715552	73715552	+	Missense_Mutation	SNP	A	A	C			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr11:73715552A>C	ENST00000314032.4	-	5	1172	c.620T>G	c.(619-621)cTg>cGg	p.L207R	UCP3_ENST00000545271.1_5'Flank|UCP3_ENST00000426995.2_Missense_Mutation_p.L207R|UCP3_ENST00000348534.4_Intron	NM_003356.3	NP_003347.1	P55916	UCP3_HUMAN	uncoupling protein 3 (mitochondrial, proton carrier)	207					aging (GO:0007568)|cellular metabolic process (GO:0044237)|cellular response to hormone stimulus (GO:0032870)|fatty acid metabolic process (GO:0006631)|lipid metabolic process (GO:0006629)|mitochondrial transport (GO:0006839)|proton transport (GO:0015992)|respiratory electron transport chain (GO:0022904)|respiratory gaseous exchange (GO:0007585)|response to activity (GO:0014823)|response to cold (GO:0009409)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|response to superoxide (GO:0000303)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	oxidative phosphorylation uncoupler activity (GO:0017077)|transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12	Breast(11;2.08e-05)					GTAGTCCAGCAGCTTCTCCTT	0.597																																																	0													149.0	111.0	124.0					11																	73715552		2200	4293	6493	SO:0001583	missense	0			AF001787	CCDS8229.1, CCDS44677.1	11q13.4	2013-05-22				ENSG00000175564		"""Solute carriers"""	12519	protein-coding gene	gene with protein product		602044				9480760, 9196039	Standard	NM_003356		Approved	SLC25A9	uc001our.3	P55916		ENST00000314032.4:c.620T>G	11.37:g.73715552A>C	ENSP00000323740:p.Leu207Arg		O60475|Q96HL3	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_uncoupling,prints_Mit_carrier	p.L207R	ENST00000314032.4	37	c.620	CCDS8229.1	11	.	.	.	.	.	.	.	.	.	.	A	28.1	4.891853	0.91889	.	.	ENSG00000175564	ENST00000314032;ENST00000426995	D;D	0.83163	-1.69;-1.69	5.82	5.82	0.92795	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.92714	0.7684	M	0.92784	3.345	0.80722	D	1	P	0.48230	0.907	D	0.63597	0.916	D	0.94140	0.7396	10	0.87932	D	0	-8.1021	15.1554	0.72735	1.0:0.0:0.0:0.0	.	207	P55916	UCP3_HUMAN	R	207	ENSP00000323740:L207R;ENSP00000392143:L207R	ENSP00000323740:L207R	L	-	2	0	UCP3	73393200	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.263000	0.95617	2.228000	0.72767	0.533000	0.62120	CTG	UCP3	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom	ENSG00000175564		0.597	UCP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UCP3	HGNC	protein_coding	OTTHUMT00000398200.1	-	0.00	61	0	A	NM_003356		73715552	-1	tier1	-	no_errors	ENST00000314032	ensembl	human	known	74_37	missense	59.15	29	42	SNP	1.000	C
UGT1A6	54578	genome.wustl.edu	37	2	234601834	234601834	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr2:234601834G>A	ENST00000305139.6	+	1	323	c.184G>A	c.(184-186)Gaa>Aaa	p.E62K	AC114812.8_ENST00000439336.1_RNA|UGT1A10_ENST00000373445.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000406651.1_5'Flank|UGT1A6_ENST00000373424.1_Intron	NM_001072.3	NP_001063.2	P19224	UD16_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A6	62					cellular glucuronidation (GO:0052695)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)	Acetaminophen(DB00316)|Deferiprone(DB08826)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Valproic Acid(DB00313)	GGTGGTGCCTGAAGTTAATTT	0.453																																																	0													98.0	96.0	97.0					2																	234601834		2203	4300	6503	SO:0001583	missense	0			M84130	CCDS2507.1, CCDS2508.1	2q37	2010-03-05	2005-07-20		ENSG00000167165	ENSG00000167165		"""UDP glucuronosyltransferases"""	12538	other	complex locus constituent		606431	"""UDP glycosyltransferase 1 family, polypeptide A6"""			9295054, 1339448	Standard	NM_001072		Approved	HLUGP, GNT1, UGT1F		P19224	OTTHUMG00000059122	ENST00000305139.6:c.184G>A	2.37:g.234601834G>A	ENSP00000303174:p.Glu62Lys		A6NKK6|B8K289|Q96TE7	Missense_Mutation	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.E62K	ENST00000305139.6	37	c.184	CCDS2507.1	2	.	.	.	.	.	.	.	.	.	.	G	10.48	1.362029	0.24684	.	.	ENSG00000167165	ENST00000441351;ENST00000305139	T;T	0.60797	0.16;0.16	5.06	4.19	0.49359	.	.	.	.	.	T	0.58509	0.2127	M	0.64997	1.995	0.26225	N	0.979105	B;B	0.21309	0.054;0.044	B;B	0.33799	0.091;0.17	T	0.56631	-0.7947	9	0.56958	D	0.05	.	9.5743	0.39447	0.1575:0.0:0.8425:0.0	.	62;62	B8K289;P19224	.;UD16_HUMAN	K	62	ENSP00000389637:E62K;ENSP00000303174:E62K	ENSP00000303174:E62K	E	+	1	0	UGT1A6	234266573	0.987000	0.35691	0.793000	0.32043	0.193000	0.23685	3.225000	0.51246	1.354000	0.45846	0.655000	0.94253	GAA	UGT1A6	-	pfam_UDP_glucos_trans	ENSG00000167165		0.453	UGT1A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT1A6	HGNC	protein_coding	OTTHUMT00000130988.1	-	0.00	53	0	G	NM_205862		234601834	+1	tier1	-	no_errors	ENST00000305139	ensembl	human	known	74_37	missense	24.56	43	14	SNP	0.092	A
USP33	23032	genome.wustl.edu	37	1	78200089	78200089	+	Missense_Mutation	SNP	A	A	C			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr1:78200089A>C	ENST00000370793.1	-	8	906	c.560T>G	c.(559-561)tTg>tGg	p.L187W	USP33_ENST00000370792.3_Missense_Mutation_p.L187W|USP33_ENST00000370794.3_Missense_Mutation_p.L156W|USP33_ENST00000357428.1_Missense_Mutation_p.L187W	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	187	USP.				axon guidance (GO:0007411)|cell migration (GO:0016477)|centrosome duplication (GO:0051298)|endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell body (GO:0044297)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|VCB complex (GO:0030891)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						AATATTTTTCAAACCTGTAAG	0.264																																					Melanoma(152;72 1870 11110 26780 42647)												0													29.0	29.0	29.0					1																	78200089		2200	4287	6487	SO:0001583	missense	0			AF383173	CCDS678.1, CCDS679.1, CCDS680.1	1p31	2008-02-05	2005-08-08		ENSG00000077254	ENSG00000077254		"""Ubiquitin-specific peptidases"""	20059	protein-coding gene	gene with protein product		615146	"""ubiquitin specific protease 33"""			12838346	Standard	NM_015017		Approved	KIAA1097, VDU1	uc001dht.4	Q8TEY7	OTTHUMG00000009651	ENST00000370793.1:c.560T>G	1.37:g.78200089A>C	ENSP00000359829:p.Leu187Trp		Q8TEY6|Q96AV6|Q9H9F0|Q9UPQ5	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,pfam_Pept_C19_DUSP,pfam_Znf_UBP,smart_Znf_UBP,smart_Pept_C19_DUSP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67	p.L187W	ENST00000370793.1	37	c.560	CCDS678.1	1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.274888	0.80580	.	.	ENSG00000077254	ENST00000370794;ENST00000370793;ENST00000357428;ENST00000370792;ENST00000524536	T;T;T;T;T	0.62941	2.59;-0.01;-0.01;2.59;-0.01	4.55	4.55	0.56014	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2, conserved site (1);Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.64402	D	0.000001	T	0.81706	0.4879	H	0.95780	3.72	0.58432	D	0.999999	D;D	0.89917	0.987;1.0	P;D	0.81914	0.797;0.995	D	0.87596	0.2494	10	0.87932	D	0	.	14.1945	0.65662	1.0:0.0:0.0:0.0	.	187;187	Q8TEY7-3;Q8TEY7	.;UBP33_HUMAN	W	156;187;187;187;187	ENSP00000359830:L156W;ENSP00000359829:L187W;ENSP00000350009:L187W;ENSP00000359828:L187W;ENSP00000434441:L187W	ENSP00000350009:L187W	L	-	2	0	USP33	77972677	1.000000	0.71417	0.997000	0.53966	0.960000	0.62799	8.712000	0.91403	1.833000	0.53350	0.477000	0.44152	TTG	USP33	-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	ENSG00000077254		0.264	USP33-002	KNOWN	basic|CCDS	protein_coding	USP33	HGNC	protein_coding	OTTHUMT00000026923.2	-	0.00	110	0	A	NM_015017		78200089	-1	tier1	-	no_errors	ENST00000357428	ensembl	human	known	74_37	missense	59.18	40	58	SNP	1.000	C
USP34	9736	genome.wustl.edu	37	2	61510280	61510280	+	Splice_Site	SNP	C	C	G			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr2:61510280C>G	ENST00000398571.2	-	37	5074	c.4998G>C	c.(4996-4998)gaG>gaC	p.E1666D		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	1666					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TTTATCTTACCTCAGGAATAA	0.343																																																	0													86.0	83.0	84.0					2																	61510280		1866	4094	5960	SO:0001630	splice_region_variant	0			AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.4998+1G>C	2.37:g.61510280C>G			A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67	p.E1666D	ENST00000398571.2	37	c.4998	CCDS42686.1	2	.	.	.	.	.	.	.	.	.	.	C	17.42	3.384559	0.61845	.	.	ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571	T	0.04654	3.58	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.15869	0.0382	L	0.55990	1.75	0.54753	D	0.999983	D	0.54207	0.965	P	0.58172	0.834	T	0.00178	-1.1951	9	.	.	.	.	19.9059	0.97007	0.0:1.0:0.0:0.0	.	1666	Q70CQ2	UBP34_HUMAN	D	1514;1514;1666	ENSP00000381577:E1666D	.	E	-	3	2	USP34	61363784	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.052000	0.71080	2.693000	0.91896	0.655000	0.94253	GAG	USP34	-	NULL	ENSG00000115464		0.343	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP34	HGNC	protein_coding	OTTHUMT00000325650.4	-	0.00	43	0	C		Missense_Mutation	61510280	-1	tier1	-	no_errors	ENST00000398571	ensembl	human	known	74_37	missense	56.72	29	38	SNP	1.000	G
USP34	9736	genome.wustl.edu	37	2	61575959	61575959	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr2:61575959C>T	ENST00000398571.2	-	14	1682	c.1606G>A	c.(1606-1608)Gac>Aac	p.D536N		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	536					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			ATTTCAATGTCACTACCTCCA	0.343																																																	0													146.0	135.0	138.0					2																	61575959		1912	4126	6038	SO:0001583	missense	0			AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.1606G>A	2.37:g.61575959C>T	ENSP00000381577:p.Asp536Asn		A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67	p.D536N	ENST00000398571.2	37	c.1606	CCDS42686.1	2	.	.	.	.	.	.	.	.	.	.	C	35	5.570363	0.96540	.	.	ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571	T	0.04317	3.65	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.17874	0.0429	L	0.50333	1.59	0.80722	D	1	D	0.63880	0.993	D	0.68192	0.956	T	0.00054	-1.2181	10	0.48119	T	0.1	.	19.8696	0.96845	0.0:1.0:0.0:0.0	.	536	Q70CQ2	UBP34_HUMAN	N	384;384;536	ENSP00000381577:D536N	ENSP00000263989:D384N	D	-	1	0	USP34	61429463	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.197000	0.77814	2.773000	0.95371	0.585000	0.79938	GAC	USP34	-	NULL	ENSG00000115464		0.343	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP34	HGNC	protein_coding	OTTHUMT00000325650.4	-	0.00	41	0	C			61575959	-1	tier1	-	no_errors	ENST00000398571	ensembl	human	known	74_37	missense	72.73	12	32	SNP	1.000	T
VCAN	1462	genome.wustl.edu	37	5	82816505	82816505	+	Missense_Mutation	SNP	A	A	C			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr5:82816505A>C	ENST00000265077.3	+	7	2945	c.2380A>C	c.(2380-2382)Agt>Cgt	p.S794R	VCAN_ENST00000343200.5_Intron|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Missense_Mutation_p.S746R|VCAN_ENST00000342785.4_Missense_Mutation_p.S794R	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	794	GAG-alpha (glucosaminoglycan attachment domain).				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	TGGTACTTTAAGTGTTGAAGC	0.388																																																	0													79.0	78.0	79.0					5																	82816505		2203	4300	6503	SO:0001583	missense	0			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.2380A>C	5.37:g.82816505A>C	ENSP00000265077:p.Ser794Arg		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link	p.S794R	ENST00000265077.3	37	c.2380	CCDS4060.1	5	.	.	.	.	.	.	.	.	.	.	A	9.246	1.039495	0.19669	.	.	ENSG00000038427	ENST00000265077;ENST00000342785;ENST00000512590	T;T;T	0.19669	2.13;2.13;2.13	5.86	-2.7	0.06004	.	1.146220	0.06217	N	0.686060	T	0.15652	0.0377	L	0.36672	1.1	0.09310	N	0.999996	B;P	0.34462	0.302;0.454	B;B	0.33620	0.167;0.115	T	0.35251	-0.9796	10	0.66056	D	0.02	.	6.0898	0.19989	0.2978:0.2926:0.4095:0.0	.	794;794	P13611-3;P13611	.;CSPG2_HUMAN	R	794;794;746	ENSP00000265077:S794R;ENSP00000342768:S794R;ENSP00000425959:S746R	ENSP00000265077:S794R	S	+	1	0	VCAN	82852261	0.002000	0.14202	0.007000	0.13788	0.023000	0.10783	0.179000	0.16840	-0.424000	0.07382	-0.408000	0.06270	AGT	VCAN	-	NULL	ENSG00000038427		0.388	VCAN-001	KNOWN	basic|CCDS	protein_coding	VCAN	HGNC	protein_coding	OTTHUMT00000254092.3	-	0.00	50	0	A	NM_004385		82816505	+1	tier1	-	no_errors	ENST00000265077	ensembl	human	known	74_37	missense	25.00	44	15	SNP	0.111	C
VPS13D	55187	genome.wustl.edu	37	1	12398045	12398046	+	Intron	INS	-	-	A	rs76484186		TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr1:12398045_12398046insA	ENST00000358136.3	+	40	8681				VPS13D_ENST00000356315.4_Intron	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TCTAATTCAGGAAAAAAAAAAA	0.297																																																	0																																										SO:0001627	intron_variant	0			AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.8552-242->A	1.37:g.12398056_12398056dupA				RNA	INS	-	NULL	ENST00000358136.3	37	NULL	CCDS30588.1	1																																																																																			VPS13D	-	-	ENSG00000048707		0.297	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13D	HGNC	protein_coding	OTTHUMT00000036897.2		0.00	10	0	-	NM_015378		12398046	+1	tier1		no_errors	ENST00000487188	ensembl	human	known	74_37	rna	18.18	9	2	INS	0.000:0.002	A
WDFY3	23001	genome.wustl.edu	37	4	85887683	85887683	+	5'Flank	SNP	T	T	A			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr4:85887683T>A	ENST00000295888.4	-	0	0				WDFY3_ENST00000322366.6_5'Flank|WDFY3-AS2_ENST00000451762.1_RNA	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3						aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CGCCGCCGCCTCAGCCTCGGC	0.716																																																	0													35.0	38.0	37.0					4																	85887683		692	1591	2283	SO:0001631	upstream_gene_variant	0			AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424		4.37:g.85887683T>A	Exception_encountered		Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	RNA	SNP	-	NULL	ENST00000295888.4	37	NULL	CCDS3609.1	4																																																																																			WDFY3-AS2	-	-	ENSG00000180769		0.716	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDFY3-AS2	HGNC	protein_coding	OTTHUMT00000252811.2	-	0.00	64	0	T	NM_014991		85887683	+1	tier1	-	no_errors	ENST00000451762	ensembl	human	known	74_37	rna	31.33	56	26	SNP	1.000	A
XIRP2	129446	genome.wustl.edu	37	2	168105148	168105148	+	Missense_Mutation	SNP	A	A	T			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr2:168105148A>T	ENST00000409195.1	+	9	7335	c.7246A>T	c.(7246-7248)Acc>Tcc	p.T2416S	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.T2194S|XIRP2_ENST00000295237.9_Missense_Mutation_p.T2416S|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2241					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AACAGGAAAAACCGGTGTGTT	0.438																																																	0													71.0	73.0	73.0					2																	168105148		1850	4090	5940	SO:0001583	missense	0			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.7246A>T	2.37:g.168105148A>T	ENSP00000386840:p.Thr2416Ser		A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	pfam_Actin-binding_Xin_repeat	p.T2416S	ENST00000409195.1	37	c.7246	CCDS42769.1	2	.	.	.	.	.	.	.	.	.	.	a	0.004	-2.345759	0.00222	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.02158	4.42;4.42;4.42	5.67	-0.834	0.10779	.	1.238380	0.05778	N	0.608134	T	0.00637	0.0021	N	0.00308	-1.67	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.46830	-0.9163	10	0.02654	T	1	-2.3074	4.3157	0.10991	0.5197:0.1538:0.0:0.3264	.	2241;2241;2194	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	S	2416;2416;2194	ENSP00000386840:T2416S;ENSP00000295237:T2416S;ENSP00000387255:T2194S	ENSP00000295237:T2416S	T	+	1	0	XIRP2	167813394	0.004000	0.15560	0.462000	0.27118	0.043000	0.13939	-0.450000	0.06803	0.071000	0.16664	-0.262000	0.10625	ACC	XIRP2	-	NULL	ENSG00000163092		0.438	XIRP2-001	KNOWN	basic|CCDS	protein_coding	XIRP2	HGNC	protein_coding	OTTHUMT00000333547.1	-	0.00	74	0	A	NM_152381		168105148	+1	tier1	-	no_errors	ENST00000295237	ensembl	human	known	74_37	missense	38.37	53	33	SNP	0.021	T
ZDHHC5	25921	genome.wustl.edu	37	11	57449977	57449977	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr11:57449977G>T	ENST00000287169.3	+	3	1550	c.188G>T	c.(187-189)aGc>aTc	p.S63I	ZDHHC5_ENST00000527985.1_Missense_Mutation_p.S10I	NM_015457.2	NP_056272.2	Q9C0B5	ZDHC5_HUMAN	zinc finger, DHHC-type containing 5	63					protein palmitoylation (GO:0018345)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						GCCAACTTCAGCATGGCCACC	0.463																																																	0													161.0	133.0	142.0					11																	57449977		2201	4296	6497	SO:0001583	missense	0			AB051535	CCDS7965.1	11q13.1	2008-05-02			ENSG00000156599	ENSG00000156599		"""Zinc fingers, DHHC-type"""	18472	protein-coding gene	gene with protein product		614586				11214970	Standard	NM_015457		Approved	KIAA1748, ZNF375	uc001nkx.1	Q9C0B5	OTTHUMG00000167198	ENST00000287169.3:c.188G>T	11.37:g.57449977G>T	ENSP00000287169:p.Ser63Ile		Q2TGF0|Q6ZMF0|Q8TAK8|Q9H923|Q9UFI7	Missense_Mutation	SNP	pfam_Znf_DHHC_palmitoyltrfase,superfamily_Plexin-like_fold,pfscan_Znf_DHHC_palmitoyltrfase	p.S63I	ENST00000287169.3	37	c.188	CCDS7965.1	11	.	.	.	.	.	.	.	.	.	.	G	25.9	4.689185	0.88735	.	.	ENSG00000156599	ENST00000527985;ENST00000287169	D;D	0.86164	-2.08;-2.08	4.96	4.96	0.65561	.	0.248398	0.49305	D	0.000158	D	0.87095	0.6092	N	0.16201	0.385	0.48040	D	0.99957	D	0.67145	0.996	D	0.72625	0.978	D	0.84849	0.0812	10	0.20519	T	0.43	-7.4882	17.9903	0.89166	0.0:0.0:1.0:0.0	.	63	Q9C0B5	ZDHC5_HUMAN	I	10;63	ENSP00000432202:S10I;ENSP00000287169:S63I	ENSP00000287169:S63I	S	+	2	0	ZDHHC5	57206553	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.388000	0.79795	2.579000	0.87056	0.561000	0.74099	AGC	ZDHHC5	-	NULL	ENSG00000156599		0.463	ZDHHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDHHC5	HGNC	protein_coding	OTTHUMT00000393694.1	-	0.00	73	0	G	NM_015457		57449977	+1	tier1	-	no_errors	ENST00000287169	ensembl	human	known	74_37	missense	27.37	69	26	SNP	1.000	T
ZFYVE9	9372	genome.wustl.edu	37	1	52747421	52747421	+	Silent	SNP	G	G	T			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr1:52747421G>T	ENST00000371591.1	+	9	3089	c.2958G>T	c.(2956-2958)ccG>ccT	p.P986P	ZFYVE9_ENST00000287727.3_Silent_p.P986P|ZFYVE9_ENST00000357206.2_Silent_p.P927P	NM_004799.2|NM_007324.2	NP_004790.2|NP_015563.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	986					endocytosis (GO:0006897)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|SMAD protein complex assembly (GO:0007183)|SMAD protein import into nucleus (GO:0007184)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome (GO:0005769)|early endosome membrane (GO:0031901)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|serine-type peptidase activity (GO:0008236)			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						AGTGTTTACCGGATGAAAAGT	0.438																																																	0													201.0	174.0	183.0					1																	52747421		2203	4300	6503	SO:0001819	synonymous_variant	0			AF104304	CCDS563.1, CCDS564.1	1p32.3	2014-06-13	2004-05-21	2004-05-26	ENSG00000157077	ENSG00000157077		"""Zinc fingers, FYVE domain containing"""	6775	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 173"""	603755	"""MAD, mothers against decapentaplegic homolog (Drosophila) interacting protein, receptor activation anchor"""	MADHIP		9865696	Standard	NM_007324		Approved	SMADIP, SARA, PPP1R173	uc001cto.4	O95405	OTTHUMG00000008061	ENST00000371591.1:c.2958G>T	1.37:g.52747421G>T			Q5T0F6|Q5T0F7|Q9UNE1|Q9Y5R7	Silent	SNP	pfam_DUF3480,pfam_SARA_Smad-bd,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pirsf_Znf_FYVE_SARA/endofin,pfscan_Znf_FYVE-rel	p.P986	ENST00000371591.1	37	c.2958	CCDS563.1	1																																																																																			ZFYVE9	-	pirsf_Znf_FYVE_SARA/endofin	ENSG00000157077		0.438	ZFYVE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFYVE9	HGNC	protein_coding	OTTHUMT00000022083.1	-	0.00	54	0	G	NM_007324		52747421	+1	tier1	-	no_errors	ENST00000287727	ensembl	human	known	74_37	silent	5.06	75	4	SNP	0.158	T
ZNF148	7707	genome.wustl.edu	37	3	124952122	124952122	+	Missense_Mutation	SNP	T	T	A			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr3:124952122T>A	ENST00000360647.4	-	9	1933	c.1448A>T	c.(1447-1449)aAc>aTc	p.N483I	ZNF148_ENST00000485866.1_Missense_Mutation_p.N483I|ZNF148_ENST00000492394.1_Missense_Mutation_p.N483I|ZNF148_ENST00000497929.1_5'UTR|ZNF148_ENST00000468369.1_Intron|ZNF148_ENST00000484491.1_Missense_Mutation_p.N483I|SLC12A8_ENST00000423114.2_Intron|ZNF148_ENST00000544464.1_Intron	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	483					cellular defense response (GO:0006968)|gamete generation (GO:0007276)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein complex assembly (GO:0006461)|substantia nigra development (GO:0021762)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						TTCCCTGCTGTTGTTACTTGC	0.463																																																	0													128.0	128.0	128.0					3																	124952122		2203	4300	6503	SO:0001583	missense	0			U09851	CCDS3031.1	3q21.2	2013-01-08	2006-06-13		ENSG00000163848	ENSG00000163848		"""Zinc fingers, C2H2-type"""	12933	protein-coding gene	gene with protein product		601897	"""zinc finger protein 148 (pHZ-52)"""			7557990, 9925940	Standard	NM_021964		Approved	BERF-1, ZBP-89, BFCOL1, HT-BETA, ZFP148, pHZ-52	uc003ehx.4	Q9UQR1	OTTHUMG00000159448	ENST00000360647.4:c.1448A>T	3.37:g.124952122T>A	ENSP00000353863:p.Asn483Ile		D3DN27|O00389|O43591|Q58EY5|Q6PJ98	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.N483I	ENST00000360647.4	37	c.1448	CCDS3031.1	3	.	.	.	.	.	.	.	.	.	.	T	12.82	2.051734	0.36181	.	.	ENSG00000163848	ENST00000360647;ENST00000484491;ENST00000492394;ENST00000485866	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	5.23	0.145	0.14829	.	0.173393	0.64402	D	0.000006	T	0.29620	0.0739	L	0.42245	1.32	0.80722	D	1	B	0.12013	0.005	B	0.12156	0.007	T	0.06935	-1.0799	10	0.87932	D	0	-3.4658	5.4376	0.16490	0.0:0.2825:0.1367:0.5808	.	483	Q9UQR1	ZN148_HUMAN	I	483	ENSP00000353863:N483I;ENSP00000420335:N483I;ENSP00000419322:N483I;ENSP00000420448:N483I	ENSP00000353863:N483I	N	-	2	0	ZNF148	126434812	0.998000	0.40836	0.717000	0.30585	0.995000	0.86356	0.699000	0.25586	-0.104000	0.12154	0.533000	0.62120	AAC	ZNF148	-	NULL	ENSG00000163848		0.463	ZNF148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF148	HGNC	protein_coding	OTTHUMT00000355452.4	-	0.00	35	0	T	NM_021964		124952122	-1	tier1	-	no_errors	ENST00000360647	ensembl	human	known	74_37	missense	33.33	12	6	SNP	0.905	A
ZNF169	169841	genome.wustl.edu	37	9	97063005	97063005	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr9:97063005C>T	ENST00000395395.2	+	5	1255	c.1165C>T	c.(1165-1167)Ctc>Ttc	p.L389F	ZNF169_ENST00000340911.4_3'UTR	NM_194320.2	NP_919301.2	Q14929	ZN169_HUMAN	zinc finger protein 169	389					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)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	24		Acute lymphoblastic leukemia(62;0.136)				GCAGTCACTCCTCCTTAGTCA	0.567																																																	0													63.0	55.0	58.0					9																	97063005		2203	4300	6503	SO:0001583	missense	0			U28322	CCDS6709.2	9q22.32	2014-07-30			ENSG00000175787	ENSG00000175787		"""Zinc fingers, C2H2-type"", ""-"""	12957	protein-coding gene	gene with protein product		603404				9186526, 9071574	Standard	NM_001301275		Approved	MGC51961	uc004aum.1	Q14929	OTTHUMG00000020264	ENST00000395395.2:c.1165C>T	9.37:g.97063005C>T	ENSP00000378792:p.Leu389Phe		A2AGP5|A8K127|Q6PI28	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.L389F	ENST00000395395.2	37	c.1165	CCDS6709.2	9	.	.	.	.	.	.	.	.	.	.	C	10.07	1.250744	0.22880	.	.	ENSG00000175787	ENST00000395395;ENST00000340911	T	0.52057	0.68	2.71	2.71	0.32032	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.63082	0.2481	M	0.79343	2.45	0.43133	D	0.994879	D	0.89917	1.0	P	0.60609	0.877	T	0.68685	-0.5343	9	0.59425	D	0.04	.	11.6205	0.51115	0.0:1.0:0.0:0.0	.	389	Q14929	ZN169_HUMAN	F	389;198	ENSP00000378792:L389F	ENSP00000340711:L198F	L	+	1	0	ZNF169	96102826	0.004000	0.15560	0.127000	0.21898	0.002000	0.02628	-0.022000	0.12480	1.836000	0.53414	0.603000	0.83216	CTC	ZNF169	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000175787		0.567	ZNF169-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF169	HGNC	protein_coding	OTTHUMT00000253714.1	-	0.00	39	0	C	NM_194320		97063005	+1	tier1	-	no_errors	ENST00000395395	ensembl	human	known	74_37	missense	16.18	57	11	SNP	0.174	T
ZNF217	7764	genome.wustl.edu	37	20	52198102	52198102	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr20:52198102G>A	ENST00000371471.2	-	2	1689	c.1264C>T	c.(1264-1266)Cct>Tct	p.P422S	ZNF217_ENST00000302342.3_Missense_Mutation_p.P422S|ZNF217_ENST00000540425.1_5'Flank			O75362	ZN217_HUMAN	zinc finger protein 217	422					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			GCGAGGTCAGGAGAACACGTC	0.632																																																	0													50.0	51.0	51.0					20																	52198102		2203	4300	6503	SO:0001583	missense	0			AF041259	CCDS13443.1	20q13.2	2013-01-08			ENSG00000171940	ENSG00000171940		"""Zinc fingers, C2H2-type"""	13009	protein-coding gene	gene with protein product		602967				9671742	Standard	NM_006526		Approved	ZABC1	uc002xwq.4	O75362	OTTHUMG00000032764	ENST00000371471.2:c.1264C>T	20.37:g.52198102G>A	ENSP00000360526:p.Pro422Ser		E1P5Y6|Q14DB8	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P422S	ENST00000371471.2	37	c.1264	CCDS13443.1	20	.	.	.	.	.	.	.	.	.	.	G	10.63	1.403428	0.25291	.	.	ENSG00000171940	ENST00000371471;ENST00000302342	T;T	0.11821	2.74;2.74	5.7	4.73	0.59995	.	0.197312	0.42420	D	0.000712	T	0.22085	0.0532	L	0.46157	1.445	0.23602	N	0.997311	D	0.58620	0.983	P	0.53490	0.727	T	0.04294	-1.0962	10	0.41790	T	0.15	-21.8439	13.1484	0.59477	0.0:0.0:0.8397:0.1603	.	422	O75362	ZN217_HUMAN	S	422	ENSP00000360526:P422S;ENSP00000304308:P422S	ENSP00000304308:P422S	P	-	1	0	ZNF217	51631509	0.911000	0.30947	0.452000	0.26994	0.087000	0.18053	1.790000	0.38734	1.366000	0.46076	0.591000	0.81541	CCT	ZNF217	-	NULL	ENSG00000171940		0.632	ZNF217-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF217	HGNC	protein_coding	OTTHUMT00000079757.2		0.00	20	0	G	NM_006526		52198102	-1			no_errors	ENST00000302342	ensembl	human	known	74_37	missense	14.29	28	5	SNP	0.579	A
ZNF439	90594	genome.wustl.edu	37	19	11979379	11979379	+	Missense_Mutation	SNP	T	T	A			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr19:11979379T>A	ENST00000304030.2	+	3	1695	c.1495T>A	c.(1495-1497)Tta>Ata	p.L499I	ZNF439_ENST00000592534.1_Intron|ZNF439_ENST00000455282.1_Missense_Mutation_p.L363I	NM_152262.2	NP_689475.1	Q8NDP4	ZN439_HUMAN	zinc finger protein 439	499					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(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2)	27						GAGAAAGACCTTATAAATATA	0.338																																																	0													36.0	40.0	39.0					19																	11979379		2195	4299	6494	SO:0001583	missense	0			AL833935	CCDS12268.1	19p13.13	2013-01-08			ENSG00000171291	ENSG00000171291		"""Zinc fingers, C2H2-type"", ""-"""	20873	protein-coding gene	gene with protein product							Standard	NM_152262		Approved	DKFZp571K0837	uc002mss.3	Q8NDP4	OTTHUMG00000156527	ENST00000304030.2:c.1495T>A	19.37:g.11979379T>A	ENSP00000305077:p.Leu499Ile		Q8IYZ7|Q96SU1	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.L499I	ENST00000304030.2	37	c.1495	CCDS12268.1	19	.	.	.	.	.	.	.	.	.	.	t	0.052	-1.246807	0.01481	.	.	ENSG00000171291	ENST00000455282;ENST00000304030	T;T	0.08008	3.14;3.24	0.823	-0.365	0.12549	.	.	.	.	.	T	0.04907	0.0132	L	0.43152	1.355	0.09310	N	1	B	0.21225	0.053	B	0.13407	0.009	T	0.46005	-0.9222	9	0.02654	T	1	.	2.2391	0.04016	0.2472:0.1975:0.0:0.5552	.	499	Q8NDP4	ZN439_HUMAN	I	363;499	ENSP00000395632:L363I;ENSP00000305077:L499I	ENSP00000305077:L499I	L	+	1	2	ZNF439	11840379	.	.	0.011000	0.14972	0.026000	0.11368	.	.	-0.180000	0.10637	0.163000	0.16589	TTA	ZNF439	-	NULL	ENSG00000171291		0.338	ZNF439-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF439	HGNC	protein_coding	OTTHUMT00000344513.1	-	0.00	49	0	T			11979379	+1	tier1	-	no_errors	ENST00000304030	ensembl	human	known	74_37	missense	7.14	52	4	SNP	0.299	A
ZNF587B	100293516	genome.wustl.edu	37	19	58353430	58353430	+	Intron	SNP	A	A	G			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr19:58353430A>G	ENST00000442832.4	+	3	1356				CTD-2583A14.10_ENST00000598031.1_Intron|ZNF587B_ENST00000316462.4_Intron|ZNF587B_ENST00000594901.1_Missense_Mutation_p.K463R	NM_001204818.1	NP_001191747.1	E7ETH6	Z587B_HUMAN	zinc finger protein 587B						regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)										CATACTAGAAAAAGGCCTTAT	0.413																																																	0																																										SO:0001627	intron_variant	0			AK299091	CCDS56109.1	19q13.43	2013-01-08				ENSG00000269343		"""Zinc fingers, C2H2-type"", ""-"""	37142	protein-coding gene	gene with protein product							Standard	NM_001204818		Approved		uc021vcp.1	E7ETH6		ENST00000442832.4:c.1122+266A>G	19.37:g.58353430A>G			B4DR41	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.K463R	ENST00000442832.4	37	c.1388	CCDS56109.1	19																																																																																			ZNF587B	-	pfscan_Znf_C2H2	ENSG00000269343		0.413	ZNF587B-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	ZNF587B	HGNC	protein_coding	OTTHUMT00000466834.2	-	0.00	72	0	A	NM_001204818		58353430	+1	tier1	-	no_errors	ENST00000594901	ensembl	human	novel	74_37	missense	78.38	16	58	SNP	0.992	G
ZNF696	79943	genome.wustl.edu	37	8	144378523	144378523	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr8:144378523G>T	ENST00000330143.3	+	3	1087	c.678G>T	c.(676-678)aaG>aaT	p.K226N		NM_030895.2	NP_112157.2	Q9H7X3	ZN696_HUMAN	zinc finger protein 696	226					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			ACGCCGCCAAGCACCGCCGCA	0.721																																																	0													6.0	8.0	7.0					8																	144378523		2085	4131	6216	SO:0001583	missense	0			AK024191	CCDS6399.1	8q24.3	2013-01-08				ENSG00000185730		"""Zinc fingers, C2H2-type"""	25872	protein-coding gene	gene with protein product							Standard	NM_030895		Approved	FLJ14129	uc003yxy.4	Q9H7X3		ENST00000330143.3:c.678G>T	8.37:g.144378523G>T	ENSP00000328515:p.Lys226Asn		A0AVE2	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.K226N	ENST00000330143.3	37	c.678	CCDS6399.1	8	.	.	.	.	.	.	.	.	.	.	G	12.86	2.063376	0.36373	.	.	ENSG00000185730	ENST00000330143	T	0.20598	2.06	2.79	0.901	0.19284	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12305	0.0299	L	0.38953	1.18	0.80722	D	1	P	0.35527	0.507	B	0.34301	0.179	T	0.15321	-1.0441	8	.	.	.	.	2.8113	0.05442	0.3048:0.2505:0.4447:0.0	.	226	Q9H7X3	ZN696_HUMAN	N	226	ENSP00000328515:K226N	.	K	+	3	2	ZNF696	144449898	0.000000	0.05858	0.619000	0.29118	0.077000	0.17291	-0.805000	0.04530	0.497000	0.27926	0.551000	0.68910	AAG	ZNF696	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000185730		0.721	ZNF696-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF696	HGNC	protein_coding	OTTHUMT00000381164.2		0.00	35	0	G	NM_030895		144378523	+1			no_errors	ENST00000330143	ensembl	human	known	74_37	missense	10.00	54	6	SNP	0.079	T
ZNF697	90874	genome.wustl.edu	37	1	120165820	120165820	+	Silent	SNP	G	G	A			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr1:120165820G>A	ENST00000421812.2	-	3	1265	c.1146C>T	c.(1144-1146)ggC>ggT	p.G382G		NM_001080470.1	NP_001073939.1	Q5TEC3	ZN697_HUMAN	zinc finger protein 697	382					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			ovary(2)	2	all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577)		ACTCGCCACAGCCGTGCGGCT	0.701																																																	0													11.0	11.0	11.0					1																	120165820		2191	4279	6470	SO:0001819	synonymous_variant	0			AK027019, BC033126	CCDS44202.1	1p12	2013-01-08			ENSG00000143067	ENSG00000143067		"""Zinc fingers, C2H2-type"""	32034	protein-coding gene	gene with protein product							Standard	NM_001080470		Approved	MGC45731	uc001ehy.1	Q5TEC3	OTTHUMG00000012962	ENST00000421812.2:c.1146C>T	1.37:g.120165820G>A			Q96IT2	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G382	ENST00000421812.2	37	c.1146	CCDS44202.1	1																																																																																			ZNF697	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000143067		0.701	ZNF697-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF697	HGNC	protein_coding	OTTHUMT00000036349.3	-	0.00	31	0	G	XM_371286		120165820	-1	tier1	-	no_errors	ENST00000421812	ensembl	human	known	74_37	silent	81.40	8	35	SNP	0.996	A
ZNF846	162993	genome.wustl.edu	37	19	9875674	9875674	+	5'UTR	SNP	C	C	T			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr19:9875674C>T	ENST00000397902.2	-	0	366				ZNF846_ENST00000588267.1_5'UTR|ZNF846_ENST00000586293.1_5'UTR|ZNF846_ENST00000592859.1_Intron	NM_001077624.1	NP_001071092.1	Q147U1	ZN846_HUMAN	zinc finger protein 846						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						TCTCGATGTTCCTGTCATGAA	0.413																																																	0													122.0	116.0	118.0					19																	9875674		1883	4116	5999	SO:0001623	5_prime_UTR_variant	0			AK097652	CCDS42496.1	19p13.2	2013-01-08			ENSG00000196605	ENSG00000196605		"""Zinc fingers, C2H2-type"", ""-"""	27260	protein-coding gene	gene with protein product							Standard	NM_001077624		Approved		uc002mmb.1	Q147U1		ENST00000397902.2:c.-48G>A	19.37:g.9875674C>T			A8K0H1|B3KUP1	RNA	SNP	-	NULL	ENST00000397902.2	37	NULL	CCDS42496.1	19																																																																																			ZNF846	-	-	ENSG00000196605		0.413	ZNF846-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF846	HGNC	protein_coding	OTTHUMT00000450253.1	-	0.00	31	0	C	NM_001077624		9875674	-1	tier1	-	no_errors	ENST00000587650	ensembl	human	known	74_37	rna	15.38	22	4	SNP	0.016	T
ZNF814	730051	genome.wustl.edu	37	19	58384289	58384289	+	Silent	SNP	A	A	G	rs529492962		TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr19:58384289A>G	ENST00000435989.2	-	3	2703	c.2469T>C	c.(2467-2469)acT>acC	p.T823T	ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	823					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						GCTTTTCTCCAGTGTGAACTC	0.398																																																	0													114.0	104.0	107.0					19																	58384289		692	1591	2283	SO:0001819	synonymous_variant	0				CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.2469T>C	19.37:g.58384289A>G			A6NF35	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.T823	ENST00000435989.2	37	c.2469	CCDS46212.1	19																																																																																			ZNF814	-	pfscan_Znf_C2H2	ENSG00000204514		0.398	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF814	HGNC	protein_coding	OTTHUMT00000466976.1	-	0.00	115	0	A	XM_001725708		58384289	-1	tier1	-	no_errors	ENST00000435989	ensembl	human	known	74_37	silent	42.86	48	36	SNP	0.981	G
