#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ALDH1A1	216	genome.wustl.edu	37	9	75516163	75516163	+	Silent	SNP	G	G	C			TCGA-AQ-A04L-01B-21D-A10M-09	TCGA-AQ-A04L-10A-01D-A12J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e8d7feb0-981b-4ba0-b4d4-fa985064444b	c2f7e5fb-0cff-43dd-959e-00f6b1d4b257	g.chr9:75516163G>C	ENST00000297785.3	-	13	1521	c.1467C>G	c.(1465-1467)gtC>gtG	p.V489V		NM_000689.4	NP_000680.2	P00352	AL1A1_HUMAN	aldehyde dehydrogenase 1 family, member A1	489					cellular aldehyde metabolic process (GO:0006081)|ethanol oxidation (GO:0006069)|positive regulation of Ras GTPase activity (GO:0032320)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|androgen binding (GO:0005497)|Ras GTPase activator activity (GO:0005099)|retinal dehydrogenase activity (GO:0001758)			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)	17					Tretinoin(DB00755)|Vitamin A(DB00162)	TGACTGTTTTGACCTCTGTAT	0.373																																						dbGAP											0													138.0	129.0	132.0					9																	75516163		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			K03000	CCDS6644.1	9q21.13	2010-08-05			ENSG00000165092	ENSG00000165092	1.2.1.36, 1.2.1.3	"""Aldehyde dehydrogenases"""	402	protein-coding gene	gene with protein product	"""retinaldehyde dehydrogenase 1"""	100640		PUMB1, ALDH1		1709013	Standard	NM_000689		Approved	RALDH1	uc004ajd.3	P00352	OTTHUMG00000020019	ENST00000297785.3:c.1467C>G	9.37:g.75516163G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	O00768|Q5SYR1	Silent	SNP	pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH	p.V489	ENST00000297785.3	37	c.1467	CCDS6644.1	9																																																																																			ALDH1A1	-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH	ENSG00000165092		0.373	ALDH1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH1A1	HGNC	protein_coding	OTTHUMT00000052679.1	88	0.00	0	G			75516163	75516163	-1	no_errors	ENST00000297785	ensembl	human	known	69_37n	silent	51	21.21	14	SNP	1.000	C
ANKRD20A11P	391267	genome.wustl.edu	37	21	15323406	15323406	+	RNA	SNP	C	C	T			TCGA-AQ-A04L-01B-21D-A10M-09	TCGA-AQ-A04L-10A-01D-A12J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e8d7feb0-981b-4ba0-b4d4-fa985064444b	c2f7e5fb-0cff-43dd-959e-00f6b1d4b257	g.chr21:15323406C>T	ENST00000344693.5	-	0	904					NR_027270.1				ankyrin repeat domain 20 family, member A11, pseudogene																		AATGTCTGTACATTCTTTCTT	0.328																																						dbGAP											0																																										-	-	-			0					21q11.2	2011-11-23			ENSG00000215559	ENSG00000215559			42024	pseudogene	pseudogene			"""chromosome 21 open reading frame 81"""	C21orf81			Standard	NR_027270		Approved		uc002yjj.4		OTTHUMG00000074237		21.37:g.15323406C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000344693.5	37	NULL		21																																																																																			ANKRD20A11P	-	-	ENSG00000215559		0.328	ANKRD20A11P-005	KNOWN	basic	processed_transcript	ANKRD20A11P	HGNC	pseudogene	OTTHUMT00000157750.1	122	0.00	0	C			15323406	15323406	-1	no_errors	ENST00000344693	ensembl	human	known	69_37n	rna	113	19.29	27	SNP	0.001	T
APOBR	55911	genome.wustl.edu	37	16	28508338	28508338	+	Missense_Mutation	SNP	C	C	T			TCGA-AQ-A04L-01B-21D-A10M-09	TCGA-AQ-A04L-10A-01D-A12J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e8d7feb0-981b-4ba0-b4d4-fa985064444b	c2f7e5fb-0cff-43dd-959e-00f6b1d4b257	g.chr16:28508338C>T	ENST00000431282.1	+	3	1959	c.1949C>T	c.(1948-1950)gCg>gTg	p.A650V	CLN3_ENST00000567160.1_5'Flank|CLN3_ENST00000569430.1_5'Flank|APOBR_ENST00000564831.1_Missense_Mutation_p.A659V|APOBR_ENST00000328423.5_Missense_Mutation_p.A650V			Q0VD83	APOBR_HUMAN	apolipoprotein B receptor	650	Glu-rich.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|triglyceride metabolic process (GO:0006641)	chylomicron (GO:0042627)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						CAGACCCTGGCGGCTGAGGCT	0.627																																						dbGAP											0													16.0	20.0	19.0					16																	28508338		2056	4168	6224	-	-	-	SO:0001583	missense	0			AK025123	CCDS58442.1	16p11.2	2011-02-14			ENSG00000184730	ENSG00000184730			24087	protein-coding gene	gene with protein product	"""apolipoprotein B48 receptor"", ""apolipoprotein B100 receptor"""	605220				10852956	Standard	NM_018690		Approved	APOB48R, APOB100R	uc002dqb.2	Q0VD83		ENST00000431282.1:c.1949C>T	16.37:g.28508338C>T	ENSP00000416094:p.Ala650Val	Somatic		WXS	Illumina GAIIx	Phase_IV	H3BU97|Q0VD81|Q8NC15|Q9NPJ9	Missense_Mutation	SNP	NULL	p.A659V	ENST00000431282.1	37	c.1976		16	.	.	.	.	.	.	.	.	.	.	C	6.447	0.450599	0.12223	.	.	ENSG00000184730	ENST00000328423;ENST00000431282	T;T	0.58797	0.31;0.31	4.6	0.944	0.19537	.	.	.	.	.	T	0.26484	0.0647	N	0.02539	-0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.17107	-1.0380	9	0.27082	T	0.32	2.0262	4.851	0.13537	0.475:0.1589:0.0:0.3661	.	650;650	Q0VD83;Q9NS13	APOBR_HUMAN;.	V	650	ENSP00000327669:A650V;ENSP00000416094:A650V	ENSP00000327669:A650V	A	+	2	0	APOBR	28415839	0.216000	0.23585	0.000000	0.03702	0.001000	0.01503	0.024000	0.13555	-0.086000	0.12550	-2.147000	0.00335	GCG	APOBR	-	NULL	ENSG00000184730		0.627	APOBR-202	KNOWN	basic|appris_candidate	protein_coding	APOBR	HGNC	protein_coding		50	0.00	0	C	NM_182804		28508338	28508338	+1	no_errors	ENST00000564831	ensembl	human	known	69_37n	missense	98	22.90	30	SNP	0.006	T
CCDC175	729665	genome.wustl.edu	37	14	60004781	60004781	+	Missense_Mutation	SNP	T	T	C			TCGA-AQ-A04L-01B-21D-A10M-09	TCGA-AQ-A04L-10A-01D-A12J-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e8d7feb0-981b-4ba0-b4d4-fa985064444b	c2f7e5fb-0cff-43dd-959e-00f6b1d4b257	g.chr14:60004781T>C	ENST00000537690.2	-	13	1638	c.1583A>G	c.(1582-1584)aAc>aGc	p.N528S	CCDC175_ENST00000281581.4_Missense_Mutation_p.N528S	NM_001164399.1	NP_001157871.1	P0C221	CC175_HUMAN	coiled-coil domain containing 175	528																	TTTTTCTTTGTTAACAAATGC	0.338																																						dbGAP											0													178.0	141.0	152.0					14																	60004781		692	1588	2280	-	-	-	SO:0001583	missense	0				CCDS53898.1	14q23.1	2012-09-24	2012-09-24	2012-09-24	ENSG00000151838	ENSG00000151838			19847	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 38"""	C14orf38			Standard	NM_001164399		Approved		uc021rtw.1	P0C221		ENST00000537690.2:c.1583A>G	14.37:g.60004781T>C	ENSP00000453940:p.Asn528Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	G3V5J7	Missense_Mutation	SNP	superfamily_Prefoldin	p.N528S	ENST00000537690.2	37	c.1583	CCDS53898.1	14	.	.	.	.	.	.	.	.	.	.	T	0.012	-1.651604	0.00785	.	.	ENSG00000151838	ENST00000555041	.	.	.	4.94	-9.89	0.00464	.	3.712890	0.00721	N	0.000894	T	0.14098	0.0341	N	0.14661	0.345	0.09310	N	1	.	.	.	.	.	.	T	0.25745	-1.0123	7	0.07990	T	0.79	26.0298	2.1962	0.03912	0.1061:0.2402:0.2895:0.3642	.	.	.	.	S	528	.	ENSP00000281581:N528S	N	-	2	0	C14orf38	59074534	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-2.813000	0.00753	-3.138000	0.00234	-1.275000	0.01399	AAC	C14orf38	-	NULL	ENSG00000151838		0.338	CCDC175-003	KNOWN	basic|appris_principal|CCDS	protein_coding	C14orf38	HGNC	protein_coding	OTTHUMT00000471273.1	187	0.53	1	T	NM_001164399		60004781	60004781	-1	no_errors	ENST00000281581	ensembl	human	known	69_37n	missense	120	28.82	49	SNP	0.000	C
CACNA2D2	9254	genome.wustl.edu	37	3	50404289	50404289	+	Missense_Mutation	SNP	G	G	C			TCGA-AQ-A04L-01B-21D-A10M-09	TCGA-AQ-A04L-10A-01D-A12J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e8d7feb0-981b-4ba0-b4d4-fa985064444b	c2f7e5fb-0cff-43dd-959e-00f6b1d4b257	g.chr3:50404289G>C	ENST00000479441.1	-	30	2582	c.2583C>G	c.(2581-2583)aaC>aaG	p.N861K	XXcos-LUCA11.4_ENST00000607121.1_RNA|CACNA2D2_ENST00000435965.1_Missense_Mutation_p.N861K|CACNA2D2_ENST00000266039.3_Missense_Mutation_p.N854K|CACNA2D2_ENST00000424201.2_Missense_Mutation_p.N854K|CACNA2D2_ENST00000395083.1_Missense_Mutation_p.N854K|XXcos-LUCA11.4_ENST00000607583.1_RNA|CACNA2D2_ENST00000423994.2_Missense_Mutation_p.N861K|CACNA2D2_ENST00000360963.3_Missense_Mutation_p.N785K|XXcos-LUCA11.4_ENST00000607088.1_RNA|XXcos-LUCA11.4_ENST00000607362.1_RNA|XXcos-LUCA11.4_ENST00000606259.1_RNA|XXcos-LUCA11.4_ENST00000606665.1_RNA|CACNA2D2_ENST00000429770.1_Missense_Mutation_p.N854K|XXcos-LUCA11.5_ENST00000606589.1_Intron			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2	861					energy reserve metabolic process (GO:0006112)|muscle fiber development (GO:0048747)|neuromuscular junction development (GO:0007528)|positive regulation of organ growth (GO:0046622)|regulation of insulin secretion (GO:0050796)|regulation of multicellular organism growth (GO:0040014)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Amiodarone(DB01118)|Bepridil(DB01244)|Felodipine(DB01023)|Gabapentin(DB00996)|Isradipine(DB00270)|Nitrendipine(DB01054)|Spironolactone(DB00421)	GGTGGGTACGGTTGCTGGCTA	0.617																																						dbGAP											0													69.0	58.0	61.0					3																	50404289		2202	4299	6501	-	-	-	SO:0001583	missense	0			AF040709	CCDS33763.1, CCDS54588.1, CCDS63647.1	3p21.3	2004-02-27			ENSG00000007402	ENSG00000007402		"""Calcium channel subunits"""	1400	protein-coding gene	gene with protein product	"""gene 26"""	607082					Standard	XM_005265581		Approved	KIAA0558	uc003daq.3	Q9NY47	OTTHUMG00000156887	ENST00000479441.1:c.2583C>G	3.37:g.50404289G>C	ENSP00000418081:p.Asn861Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A7MD15|Q9NY48|Q9UEW0|Q9Y268	Missense_Mutation	SNP	pfam_VWA_N,pfam_VDCC_a2/dsu,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.N861K	ENST00000479441.1	37	c.2583	CCDS54588.1	3	.	.	.	.	.	.	.	.	.	.	G	10.96	1.497339	0.26861	.	.	ENSG00000007402	ENST00000423994;ENST00000429770;ENST00000266039;ENST00000360963;ENST00000435965;ENST00000395083;ENST00000424201;ENST00000479441	T;T;T;T;T;T;T;T	0.71461	-0.57;-0.57;-0.57;-0.57;-0.57;-0.57;-0.57;-0.57	5.22	3.37	0.38596	.	0.991809	0.08207	N	0.981287	T	0.56934	0.2019	L	0.33137	0.985	0.48511	D	0.999668	B;B	0.17268	0.021;0.013	B;B	0.16722	0.013;0.016	T	0.32295	-0.9912	10	0.06625	T	0.88	-23.365	9.6787	0.40056	0.1777:0.0:0.8223:0.0	.	861;854	Q9NY47;Q9NY47-2	CA2D2_HUMAN;.	K	861;854;854;785;861;854;854;861	ENSP00000407393:N861K;ENSP00000404631:N854K;ENSP00000266039:N854K;ENSP00000354228:N785K;ENSP00000390526:N861K;ENSP00000378519:N854K;ENSP00000390329:N854K;ENSP00000418081:N861K	ENSP00000266039:N854K	N	-	3	2	CACNA2D2	50379293	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.054000	0.41335	0.544000	0.28883	0.655000	0.94253	AAC	CACNA2D2	-	NULL	ENSG00000007402		0.617	CACNA2D2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	CACNA2D2	HGNC	protein_coding	OTTHUMT00000346457.1	42	0.00	0	G	NM_006030		50404289	50404289	-1	no_errors	ENST00000435965	ensembl	human	known	69_37n	missense	89	53.81	106	SNP	1.000	C
CALR	811	genome.wustl.edu	37	19	13054630	13054630	+	Missense_Mutation	SNP	A	A	G			TCGA-AQ-A04L-01B-21D-A10M-09	TCGA-AQ-A04L-10A-01D-A12J-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e8d7feb0-981b-4ba0-b4d4-fa985064444b	c2f7e5fb-0cff-43dd-959e-00f6b1d4b257	g.chr19:13054630A>G	ENST00000316448.5	+	9	1230	c.1157A>G	c.(1156-1158)gAg>gGg	p.E386G	RAD23A_ENST00000541222.1_5'Flank|RAD23A_ENST00000586534.1_5'Flank|RAD23A_ENST00000316856.3_5'Flank|RAD23A_ENST00000592268.1_5'Flank|CTC-425F1.4_ENST00000589120.1_RNA	NM_004343.3	NP_004334.1	P27797	CALR_HUMAN	calreticulin	386	Asp/Glu/Lys-rich.|C-domain.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|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)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cellular calcium ion homeostasis (GO:0006874)|cellular protein metabolic process (GO:0044267)|cellular response to lithium ion (GO:0071285)|cellular senescence (GO:0090398)|chaperone-mediated protein folding (GO:0061077)|cortical actin cytoskeleton organization (GO:0030866)|endoplasmic reticulum unfolded protein response (GO:0030968)|glucocorticoid receptor signaling pathway (GO:0042921)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|peptide antigen assembly with MHC class I protein complex (GO:0002502)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of DNA replication (GO:0045740)|positive regulation of gene expression (GO:0010628)|positive regulation of phagocytosis (GO:0050766)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|post-translational protein modification (GO:0043687)|protein export from nucleus (GO:0006611)|protein folding (GO:0006457)|protein localization to nucleus (GO:0034504)|protein maturation by protein folding (GO:0022417)|protein N-linked glycosylation via asparagine (GO:0018279)|protein stabilization (GO:0050821)|regulation of apoptotic process (GO:0042981)|regulation of meiosis (GO:0040020)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to testosterone (GO:0033574)|sequestering of calcium ion (GO:0051208)|spermatogenesis (GO:0007283)	acrosomal vesicle (GO:0001669)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|intracellular (GO:0005622)|membrane (GO:0016020)|MHC class I peptide loading complex (GO:0042824)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|proteinaceous extracellular matrix (GO:0005578)|sarcoplasmic reticulum (GO:0016529)	androgen receptor binding (GO:0050681)|calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|chaperone binding (GO:0051087)|complement component C1q binding (GO:0001849)|DNA binding (GO:0003677)|glycoprotein binding (GO:0001948)|hormone binding (GO:0042562)|integrin binding (GO:0005178)|iron ion binding (GO:0005506)|mRNA binding (GO:0003729)|peptide binding (GO:0042277)|poly(A) RNA binding (GO:0044822)|protein binding involved in protein folding (GO:0044183)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(3)|lung(5)|ovary(1)	10					Antihemophilic Factor(DB00025)|Melatonin(DB01065)|Tenecteplase(DB00031)	gaggacaaggaggatgatgag	0.527																																						dbGAP											0													259.0	208.0	225.0					19																	13054630		2201	4300	6501	-	-	-	SO:0001583	missense	0			M84739	CCDS12288.1	19p13.3-p13.2	2014-09-17				ENSG00000179218			1455	protein-coding gene	gene with protein product	"""Sicca syndrome antigen A (autoantigen Ro; calreticulin)"", ""autoantigen Ro"""	109091				2365822	Standard	NM_004343		Approved	RO, SSA, cC1qR, CRT, FLJ26680	uc002mvu.2	P27797		ENST00000316448.5:c.1157A>G	19.37:g.13054630A>G	ENSP00000320866:p.Glu386Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IAT4|Q9UDG2	Missense_Mutation	SNP	pirsf_Calreticulin,pfam_Calret/calnex,superfamily_ConA-like_lec_gl,prints_Calret/calnex	p.E386G	ENST00000316448.5	37	c.1157	CCDS12288.1	19	.	.	.	.	.	.	.	.	.	.	A	11.66	1.705823	0.30232	.	.	ENSG00000179218	ENST00000316448;ENST00000539083	T	0.06068	3.35	5.06	5.06	0.68205	.	0.509000	0.19560	N	0.111356	T	0.05914	0.0154	N	0.24115	0.695	0.80722	D	1	B	0.20780	0.048	B	0.20767	0.031	T	0.41413	-0.9510	10	0.33141	T	0.24	-7.826	14.0696	0.64852	1.0:0.0:0.0:0.0	.	386	P27797	CALR_HUMAN	G	386;265	ENSP00000320866:E386G	ENSP00000320866:E386G	E	+	2	0	CALR	12915630	0.998000	0.40836	0.740000	0.30986	0.251000	0.25915	3.788000	0.55446	2.036000	0.60181	0.459000	0.35465	GAG	CALR	-	pirsf_Calreticulin	ENSG00000179218		0.527	CALR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CALR	HGNC	protein_coding	OTTHUMT00000451952.1	508	0.00	0	A	NM_004343		13054630	13054630	+1	no_errors	ENST00000316448	ensembl	human	known	69_37n	missense	1032	20.81	272	SNP	0.997	G
CD97	976	genome.wustl.edu	37	19	14507218	14507218	+	Silent	SNP	T	T	C			TCGA-AQ-A04L-01B-21D-A10M-09	TCGA-AQ-A04L-10A-01D-A12J-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e8d7feb0-981b-4ba0-b4d4-fa985064444b	c2f7e5fb-0cff-43dd-959e-00f6b1d4b257	g.chr19:14507218T>C	ENST00000242786.5	+	5	491	c.411T>C	c.(409-411)ctT>ctC	p.L137L	CD97_ENST00000358600.3_Intron|CD97_ENST00000587728.1_Intron|CD97_ENST00000357355.3_Silent_p.L137L	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	137	EGF-like 3; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						TCAACACCCTTGGCAGCTATA	0.572																																						dbGAP											0													138.0	109.0	119.0					19																	14507218		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS32929.1, CCDS32930.1, CCDS32931.1	19p13	2014-08-08	2006-03-28			ENSG00000123146		"""CD molecules"", ""-"", ""GPCR / Class B : Orphans"""	1711	protein-coding gene	gene with protein product	"""leukocyte antigen CD97"", ""seven-span transmembrane protein"", ""seven-transmembrane, heterodimeric receptor associated with inflammation"", ""seven transmembrane helix receptor"""	601211	"""CD97 antigen"""			7636245, 8786105	Standard	NM_078481		Approved	TM7LN1	uc002myl.3	P48960		ENST00000242786.5:c.411T>C	19.37:g.14507218T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7Z4|B2RBJ9|O00718|O76101|Q8NG72|Q8TBQ7	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd,pfam_GPS_dom,pfam_EGF-like_dom,smart_EGF-like,smart_EGF-like_Ca-bd,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_CD97,prints_GPCR_2_secretin-like,prints_GPCR_2_EMR1_rcpt	p.L137	ENST00000242786.5	37	c.411	CCDS32929.1	19																																																																																			CD97	-	pfam_EGF-like_Ca-bd,pfam_EGF-like_dom,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom	ENSG00000123146		0.572	CD97-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CD97	HGNC	protein_coding	OTTHUMT00000459821.2	34	0.00	0	T	NM_078481		14507218	14507218	+1	no_errors	ENST00000242786	ensembl	human	known	69_37n	silent	300	11.56	40	SNP	0.000	C
CDHR3	222256	genome.wustl.edu	37	7	105624689	105624689	+	Missense_Mutation	SNP	T	T	A			TCGA-AQ-A04L-01B-21D-A10M-09	TCGA-AQ-A04L-10A-01D-A12J-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e8d7feb0-981b-4ba0-b4d4-fa985064444b	c2f7e5fb-0cff-43dd-959e-00f6b1d4b257	g.chr7:105624689T>A	ENST00000317716.9	+	4	547	c.467T>A	c.(466-468)gTt>gAt	p.V156D	CDHR3_ENST00000478080.1_Missense_Mutation_p.V68D|CDHR3_ENST00000541203.1_Intron|CDHR3_ENST00000343407.5_5'UTR|CDHR3_ENST00000542731.1_Missense_Mutation_p.V156D|CDHR3_ENST00000470188.1_3'UTR	NM_152750.4	NP_689963.2	Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3	156	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						ATTTACCAGGTTGAGGCCTTC	0.433																																						dbGAP											0													66.0	67.0	67.0					7																	105624689		1893	4116	6009	-	-	-	SO:0001583	missense	0			AK126338	CCDS47684.1, CCDS75651.1	7q22.2	2011-07-01			ENSG00000128536	ENSG00000128536		"""Cadherins / Cadherin-related"""	26308	protein-coding gene	gene with protein product		615610					Standard	NM_152750		Approved	FLJ44366, FLJ23834, CDH28	uc003vdl.4	Q6ZTQ4	OTTHUMG00000157520	ENST00000317716.9:c.467T>A	7.37:g.105624689T>A	ENSP00000325954:p.Val156Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TCI7	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.V156D	ENST00000317716.9	37	c.467	CCDS47684.1	7	.	.	.	.	.	.	.	.	.	.	T	17.19	3.326148	0.60743	.	.	ENSG00000128536	ENST00000542731;ENST00000317716;ENST00000478080	T;T;T	0.58652	0.32;0.32;0.32	4.58	4.58	0.56647	Cadherin (4);Cadherin-like (1);	0.336097	0.24798	N	0.035517	T	0.76062	0.3935	M	0.87682	2.9	0.80722	D	1	D;D	0.71674	0.996;0.998	D;D	0.68483	0.93;0.958	T	0.79962	-0.1582	10	0.87932	D	0	-4.9956	10.4954	0.44775	0.0:0.0:0.0:1.0	.	143;156	B3KYA0;Q6ZTQ4	.;CDHR3_HUMAN	D	156;156;68	ENSP00000439766:V156D;ENSP00000325954:V156D;ENSP00000417771:V68D	ENSP00000325954:V156D	V	+	2	0	CDHR3	105411925	0.997000	0.39634	0.987000	0.45799	0.659000	0.38960	3.856000	0.55964	2.043000	0.60533	0.533000	0.62120	GTT	CDHR3	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000128536		0.433	CDHR3-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDHR3	HGNC	protein_coding	OTTHUMT00000349025.2	51	0.00	0	T	NM_152750		105624689	105624689	+1	no_errors	ENST00000317716	ensembl	human	known	69_37n	missense	55	17.91	12	SNP	0.988	A
CEP57	9702	genome.wustl.edu	37	11	95562350	95562351	+	Splice_Site	INS	-	-	C			TCGA-AQ-A04L-01B-21D-A10M-09	TCGA-AQ-A04L-10A-01D-A12J-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e8d7feb0-981b-4ba0-b4d4-fa985064444b	c2f7e5fb-0cff-43dd-959e-00f6b1d4b257	g.chr11:95562350_95562351insC	ENST00000325542.5	+	10	1365_1366		c.e10-1		CEP57_ENST00000325486.5_Splice_Site|CEP57_ENST00000537677.1_Splice_Site|CEP57_ENST00000541150.1_Splice_Site	NM_001243776.1|NM_014679.4	NP_001230705.1|NP_055494.2	Q86XR8	CEP57_HUMAN	centrosomal protein 57kDa						fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|mitotic cell cycle (GO:0000278)|protein homooligomerization (GO:0051260)|protein import into nucleus, translocation (GO:0000060)|spermatid development (GO:0007286)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	fibroblast growth factor binding (GO:0017134)|protein homodimerization activity (GO:0042803)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TTTGTATATAGTGATCACCAGC	0.401									Mosaic Variegated Aneuploidy Syndrome																													dbGAP											0																																										-	-	-	SO:0001630	splice_region_variant	0	Familial Cancer Database	MVA, MVA syndrome, VMA syndrome, variegated mosaic aneuploidy syndrome, premature centromere division	D42054	CCDS8304.1, CCDS58166.1, CCDS58167.1	11q21	2014-09-17			ENSG00000166037	ENSG00000166037			30794	protein-coding gene	gene with protein product		607951				7788527	Standard	NM_014679		Approved	Translokin, TSP57, KIAA0092	uc001pfp.2	Q86XR8	OTTHUMG00000167740	ENST00000325542.5:c.1128-1->C	11.37:g.95562350_95562351insC		Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJH1|A8K5D0|B4DDP5|F5H5F7|Q14704|Q5JB46|Q8IXP0|Q9BVF9	Frame_Shift_Ins	INS	pfam_Cep57_MT-bd_dom	p.D378fs	ENST00000325542.5	37	c.1129_1128	CCDS8304.1	11																																																																																			CEP57	-	pfam_Cep57_MT-bd_dom	ENSG00000166037		0.401	CEP57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP57	HGNC	protein_coding	OTTHUMT00000395983.1	70	0.00	0	-	NM_014679	Intron	95562350	95562351	+1	no_errors	ENST00000325542	ensembl	human	known	69_37n	frame_shift_ins	69	12.66	10	INS	1.000:1.000	C
CEP85L	387119	genome.wustl.edu	37	6	118953701	118953701	+	Silent	SNP	A	A	G			TCGA-AQ-A04L-01B-21D-A10M-09	TCGA-AQ-A04L-10A-01D-A12J-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e8d7feb0-981b-4ba0-b4d4-fa985064444b	c2f7e5fb-0cff-43dd-959e-00f6b1d4b257	g.chr6:118953701A>G	ENST00000368491.3	-	2	768	c.147T>C	c.(145-147)caT>caC	p.H49H	CEP85L_ENST00000360290.3_5'UTR|CEP85L_ENST00000392500.3_Silent_p.H52H|CEP85L_ENST00000419517.2_Silent_p.H49H|CEP85L_ENST00000368488.5_Silent_p.H52H	NM_001042475.2	NP_001035940.1	Q5SZL2	CE85L_HUMAN	centrosomal protein 85kDa-like	49						centrosome (GO:0005813)|cytoplasm (GO:0005737)											GGTTATTTCGATGGTTAGATG	0.423																																						dbGAP											0													101.0	94.0	96.0					6																	118953701		1892	4133	6025	-	-	-	SO:0001819	synonymous_variant	0			AF308284	CCDS5119.2, CCDS43498.1, CCDS55052.1	6q22.31	2011-11-25	2011-11-25	2011-11-25	ENSG00000111860	ENSG00000111860			21638	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 204"""	C6orf204			Standard	NM_206921		Approved	NY-BR-15, bA57K17.2	uc003pya.2	Q5SZL2	OTTHUMG00000015465	ENST00000368491.3:c.147T>C	6.37:g.118953701A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A1A4E1|A2A3P2|A2IDE5|F8W6J2|G3V0H3|Q2TAM2|Q5T323|Q7Z5K7|Q9H289	Silent	SNP	NULL	p.H52	ENST00000368491.3	37	c.156	CCDS43498.1	6																																																																																			CEP85L	-	NULL	ENSG00000111860		0.423	CEP85L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP85L	HGNC	protein_coding	OTTHUMT00000041996.2	39	0.00	0	A	NM_001042475		118953701	118953701	-1	no_errors	ENST00000368488	ensembl	human	known	69_37n	silent	70	46.97	62	SNP	0.979	G
CRY2	1408	genome.wustl.edu	37	11	45889269	45889269	+	Missense_Mutation	SNP	T	T	C			TCGA-AQ-A04L-01B-21D-A10M-09	TCGA-AQ-A04L-10A-01D-A12J-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e8d7feb0-981b-4ba0-b4d4-fa985064444b	c2f7e5fb-0cff-43dd-959e-00f6b1d4b257	g.chr11:45889269T>C	ENST00000443527.2	+	6	933	c.911T>C	c.(910-912)cTc>cCc	p.L304P	CRY2_ENST00000417225.2_Missense_Mutation_p.L222P	NM_021117.3	NP_066940.2	Q49AN0	CRY2_HUMAN	cryptochrome circadian clock 2	283					blue light signaling pathway (GO:0009785)|circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|DNA repair (GO:0006281)|entrainment of circadian clock by photoperiod (GO:0043153)|glucose homeostasis (GO:0042593)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of phosphoprotein phosphatase activity (GO:0032515)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|regulation of sodium-dependent phosphate transport (GO:2000118)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)	blue light photoreceptor activity (GO:0009882)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA photolyase activity (GO:0003913)|FAD binding (GO:0071949)|phosphatase binding (GO:0019902)|single-stranded DNA binding (GO:0003697)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2)	15						TCCTGCCGCCTCTTCTACTAC	0.582																																					Esophageal Squamous(106;91 1499 8126 12599 39610)	dbGAP											0													69.0	68.0	68.0					11																	45889269		2203	4299	6502	-	-	-	SO:0001583	missense	0			AB014558	CCDS7915.2, CCDS44576.1	11p11.2	2014-01-17	2014-01-17		ENSG00000121671	ENSG00000121671			2385	protein-coding gene	gene with protein product		603732	"""cryptochrome 2 (photolyase-like)"""			8909283	Standard	NM_021117		Approved		uc010rgn.2	Q49AN0	OTTHUMG00000153225	ENST00000443527.2:c.911T>C	11.37:g.45889269T>C	ENSP00000406751:p.Leu304Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DH32|B4DZD6|O75148|Q8IV71	Missense_Mutation	SNP	pfam_Photolyase_FAD-bd/Cryptochr_C,pfam_DNA_photolyase_N,superfamily_Photolyase_FAD-bd/Cryptochr_C,superfamily_DNA_photolyase_N	p.L304P	ENST00000443527.2	37	c.911	CCDS7915.2	11	.	.	.	.	.	.	.	.	.	.	T	25.0	4.597742	0.87055	.	.	ENSG00000121671	ENST00000417225;ENST00000443527	.	.	.	5.12	5.12	0.69794	DNA photolyase, FAD-binding/Cryptochrome, C-terminal (2);	0.060972	0.64402	D	0.000007	D	0.83982	0.5372	M	0.89601	3.045	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.71414	0.973;0.973;0.955	D	0.86739	0.1953	9	0.51188	T	0.08	-29.8607	14.9089	0.70740	0.0:0.0:0.0:1.0	.	283;304;222	Q49AN0;B4DZD6;Q49AN0-2	CRY2_HUMAN;.;.	P	222;304	.	ENSP00000397419:L222P	L	+	2	0	CRY2	45845845	0.977000	0.34250	1.000000	0.80357	0.989000	0.77384	6.174000	0.71943	1.920000	0.55613	0.459000	0.35465	CTC	CRY2	-	pfam_Photolyase_FAD-bd/Cryptochr_C,superfamily_Photolyase_FAD-bd/Cryptochr_C	ENSG00000121671		0.582	CRY2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CRY2	HGNC	protein_coding	OTTHUMT00000330235.2	73	0.00	0	T	NM_021117		45889269	45889269	+1	no_errors	ENST00000443527	ensembl	human	known	69_37n	missense	220	14.40	37	SNP	1.000	C
CYP2A13	1553	genome.wustl.edu	37	19	41596335	41596335	+	Silent	SNP	C	C	T			TCGA-AQ-A04L-01B-21D-A10M-09	TCGA-AQ-A04L-10A-01D-A12J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e8d7feb0-981b-4ba0-b4d4-fa985064444b	c2f7e5fb-0cff-43dd-959e-00f6b1d4b257	g.chr19:41596335C>T	ENST00000330436.3	+	4	520	c.520C>T	c.(520-522)Ctg>Ttg	p.L174L		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	174					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Methoxsalen(DB00553)|Nicotine(DB00184)|Testosterone(DB00624)	CACCTTCTTCCTGAGCCGCAC	0.547																																						dbGAP											0													129.0	119.0	123.0					19																	41596335		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U22028	CCDS12571.1	19q13.2	2013-11-11	2003-01-14		ENSG00000197838	ENSG00000197838		"""Cytochrome P450s"""	2608	protein-coding gene	gene with protein product		608055	"""cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 13"""			7668294, 15128046	Standard	NM_000766		Approved	CPAD, CYP2A	uc002opt.4	Q16696	OTTHUMG00000182762	ENST00000330436.3:c.520C>T	19.37:g.41596335C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q53YR8|Q6R569|Q6R570|Q9H2X2	Silent	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2A-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV	p.L174	ENST00000330436.3	37	c.520	CCDS12571.1	19																																																																																			CYP2A13	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000197838		0.547	CYP2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2A13	HGNC	protein_coding	OTTHUMT00000463505.1	179	0.00	0	C	NM_000766		41596335	41596335	+1	no_errors	ENST00000330436	ensembl	human	known	69_37n	silent	304	33.84	157	SNP	0.641	T
DNAH10	196385	genome.wustl.edu	37	12	124265682	124265682	+	Missense_Mutation	SNP	T	T	A			TCGA-AQ-A04L-01B-21D-A10M-09	TCGA-AQ-A04L-10A-01D-A12J-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e8d7feb0-981b-4ba0-b4d4-fa985064444b	c2f7e5fb-0cff-43dd-959e-00f6b1d4b257	g.chr12:124265682T>A	ENST00000409039.3	+	6	519	c.494T>A	c.(493-495)gTc>gAc	p.V165D		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	165	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		ACCGTGGGAGTCACATCTGGA	0.428																																						dbGAP											0													57.0	66.0	63.0					12																	124265682		1327	2309	3636	-	-	-	SO:0001583	missense	0			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.494T>A	12.37:g.124265682T>A	ENSP00000386770:p.Val165Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_PyrdxlP-dep_Trfase_major_dom,smart_AAA+_ATPase	p.V165D	ENST00000409039.3	37	c.494	CCDS9255.2	12	.	.	.	.	.	.	.	.	.	.	t	4.678	0.126042	0.08931	.	.	ENSG00000197653	ENST00000409039	T	0.21543	2.0	4.75	-6.79	0.01715	.	.	.	.	.	T	0.07052	0.0179	N	0.14661	0.345	0.09310	N	1	B	0.12630	0.006	B	0.14023	0.01	T	0.38415	-0.9662	9	0.11485	T	0.65	.	0.9836	0.01441	0.3893:0.208:0.0984:0.3044	.	165	Q8IVF4	DYH10_HUMAN	D	165	ENSP00000386770:V165D	ENSP00000386770:V165D	V	+	2	0	DNAH10	122831635	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.213000	0.17521	-1.168000	0.02776	-0.781000	0.03364	GTC	DNAH10	-	NULL	ENSG00000197653		0.428	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH10	HGNC	protein_coding	OTTHUMT00000335420.3	31	0.00	0	T			124265682	124265682	+1	no_errors	ENST00000409039	ensembl	human	known	69_37n	missense	78	25.00	26	SNP	0.000	A
DSPP	1834	genome.wustl.edu	37	4	88534388	88534389	+	Frame_Shift_Ins	INS	-	-	AG			TCGA-AQ-A04L-01B-21D-A10M-09	TCGA-AQ-A04L-10A-01D-A12J-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e8d7feb0-981b-4ba0-b4d4-fa985064444b	c2f7e5fb-0cff-43dd-959e-00f6b1d4b257	g.chr4:88534388_88534389insAG	ENST00000282478.7	+	3	1083_1084	c.1050_1051insAG	c.(1051-1053)gaafs	p.E351fs	DSPP_ENST00000399271.1_Frame_Shift_Ins_p.E351fs|RP11-742B18.1_ENST00000506480.1_RNA			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	351					biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		TCAACCATAGAGAAAGCAAACG	0.421																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	Exception_encountered	4.37:g.88534388_88534389insAG	ENSP00000282478:p.Glu351fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MUI0|O95815	Frame_Shift_Ins	INS	NULL	p.E350fs	ENST00000282478.7	37	c.1050_1051	CCDS43248.1	4																																																																																			DSPP	-	NULL	ENSG00000152591		0.421	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	DSPP	HGNC	protein_coding	OTTHUMT00000363616.3	53	0.00	0	-	NM_014208		88534388	88534389	+1	no_errors	ENST00000282478	ensembl	human	known	69_37n	frame_shift_ins	13	13.33	2	INS	0.007:0.012	AG
FGA	2243	genome.wustl.edu	37	4	155507981	155507981	+	Missense_Mutation	SNP	C	C	G			TCGA-AQ-A04L-01B-21D-A10M-09	TCGA-AQ-A04L-10A-01D-A12J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e8d7feb0-981b-4ba0-b4d4-fa985064444b	c2f7e5fb-0cff-43dd-959e-00f6b1d4b257	g.chr4:155507981C>G	ENST00000302053.3	-	5	678	c.600G>C	c.(598-600)caG>caC	p.Q200H	FGA_ENST00000403106.3_Missense_Mutation_p.Q200H	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	200					blood coagulation (GO:0007596)|blood coagulation, common pathway (GO:0072377)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of blood coagulation, common pathway (GO:2000261)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	structural molecule activity (GO:0005198)			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	GTTGCTTCTGCTGATCTTCAT	0.438																																					NSCLC(143;340 1922 20892 22370 48145)	dbGAP											0													129.0	131.0	130.0					4																	155507981		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3661	protein-coding gene	gene with protein product		134820	"""fibrinogen, A alpha polypeptide"""				Standard	NM_000508		Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.600G>C	4.37:g.155507981C>G	ENSP00000306361:p.Gln200His	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Missense_Mutation	SNP	pfam_Fibrinogen_a/b/g_C,pfam_Fibrinogen_a/b/g_coil_dom,pfam_Fibrinogen_aC,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C	p.Q200H	ENST00000302053.3	37	c.600	CCDS3787.1	4	.	.	.	.	.	.	.	.	.	.	C	11.89	1.773061	0.31411	.	.	ENSG00000171560	ENST00000302053;ENST00000403106;ENST00000457487	T;T	0.59224	0.28;0.28	5.78	-0.359	0.12571	Fibrinogen, alpha/beta/gamma chain, coiled coil domain (1);	0.402647	0.27298	N	0.020012	T	0.43100	0.1232	L	0.52206	1.635	0.23739	N	0.996979	B;B	0.34161	0.439;0.069	B;B	0.29663	0.105;0.014	T	0.34428	-0.9829	10	0.54805	T	0.06	.	7.2274	0.26022	0.0:0.2223:0.4707:0.3069	.	200;200	P02671-2;P02671	.;FIBA_HUMAN	H	200	ENSP00000306361:Q200H;ENSP00000385981:Q200H	ENSP00000306361:Q200H	Q	-	3	2	FGA	155727431	0.124000	0.22315	0.973000	0.42090	0.976000	0.68499	-0.757000	0.04772	0.149000	0.19098	-0.140000	0.14226	CAG	FGA	-	NULL	ENSG00000171560		0.438	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	FGA	HGNC	protein_coding	OTTHUMT00000317593.1	68	0.00	0	C	NM_000508		155507981	155507981	-1	no_errors	ENST00000302053	ensembl	human	known	69_37n	missense	123	12.77	18	SNP	0.697	G
FLNC	2318	genome.wustl.edu	37	7	128475401	128475401	+	Missense_Mutation	SNP	G	G	A			TCGA-AQ-A04L-01B-21D-A10M-09	TCGA-AQ-A04L-10A-01D-A12J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e8d7feb0-981b-4ba0-b4d4-fa985064444b	c2f7e5fb-0cff-43dd-959e-00f6b1d4b257	g.chr7:128475401G>A	ENST00000325888.8	+	2	635	c.374G>A	c.(373-375)gGg>gAg	p.G125E	FLNC_ENST00000346177.6_Missense_Mutation_p.G125E	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	125	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						ATCGTGGATGGGAACCTGAAG	0.627																																						dbGAP											0													97.0	104.0	102.0					7																	128475401		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.374G>A	7.37:g.128475401G>A	ENSP00000327145:p.Gly125Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.G125E	ENST00000325888.8	37	c.374	CCDS43644.1	7	.	.	.	.	.	.	.	.	.	.	g	25.8	4.671808	0.88348	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	T;T	0.72394	-0.65;-0.65	5.44	4.55	0.56014	Actinin-type, actin-binding, conserved site (1);Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.87767	0.6260	H	0.94658	3.565	0.53005	D	0.999965	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90731	0.4642	10	0.72032	D	0.01	.	13.515	0.61535	0.0757:0.0:0.9243:0.0	.	125;125	Q14315-2;Q14315	.;FLNC_HUMAN	E	125	ENSP00000327145:G125E;ENSP00000344002:G125E	ENSP00000327145:G125E	G	+	2	0	FLNC	128262637	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.869000	0.99810	1.424000	0.47217	0.561000	0.74099	GGG	FLNC	-	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	ENSG00000128591		0.627	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FLNC	HGNC	protein_coding	OTTHUMT00000059948.3	64	0.00	0	G			128475401	128475401	+1	no_errors	ENST00000325888	ensembl	human	known	69_37n	missense	60	60.00	90	SNP	1.000	A
GABRA6	2559	genome.wustl.edu	37	5	161128618	161128618	+	Missense_Mutation	SNP	C	C	A			TCGA-AQ-A04L-01B-21D-A10M-09	TCGA-AQ-A04L-10A-01D-A12J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e8d7feb0-981b-4ba0-b4d4-fa985064444b	c2f7e5fb-0cff-43dd-959e-00f6b1d4b257	g.chr5:161128618C>A	ENST00000274545.5	+	9	1634	c.1201C>A	c.(1201-1203)Cct>Act	p.P401T	GABRA6_ENST00000523217.1_Missense_Mutation_p.P391T			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	401					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	ACAATCAACACCTGTCACACC	0.463										TCGA Ovarian(5;0.080)																												dbGAP											0													111.0	104.0	106.0					5																	161128618		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS4356.1	5q34	2012-06-22			ENSG00000145863	ENSG00000145863		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4080	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 6"""	137143				8020978	Standard	NM_000811		Approved		uc003lyu.2	Q16445	OTTHUMG00000130351	ENST00000274545.5:c.1201C>A	5.37:g.161128618C>A	ENSP00000274545:p.Pro401Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K096|Q4VAV2	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa6_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel	p.P401T	ENST00000274545.5	37	c.1201	CCDS4356.1	5	.	.	.	.	.	.	.	.	.	.	C	4.115	0.019554	0.08006	.	.	ENSG00000145863	ENST00000274545;ENST00000523217	D;D	0.83506	-1.73;-1.73	5.16	4.04	0.47022	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.679458	0.15509	N	0.258620	T	0.67031	0.2850	N	0.22421	0.69	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.46414	-0.9193	10	0.27082	T	0.32	.	3.3981	0.07313	0.4532:0.4006:0.0:0.1462	.	401	Q16445	GBRA6_HUMAN	T	401;391	ENSP00000274545:P401T;ENSP00000430527:P391T	ENSP00000274545:P401T	P	+	1	0	GABRA6	161061196	0.299000	0.24426	0.984000	0.44739	0.167000	0.22549	1.047000	0.30367	2.571000	0.86741	0.655000	0.94253	CCT	GABRA6	-	superfamily_Neurotrans-gated_channel_TM	ENSG00000145863		0.463	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRA6	HGNC	protein_coding	OTTHUMT00000252707.2	114	0.00	0	C			161128618	161128618	+1	no_errors	ENST00000274545	ensembl	human	known	69_37n	missense	60	35.48	33	SNP	0.042	A
GAGE10	643832	genome.wustl.edu	37	X	49173740	49173740	+	Missense_Mutation	SNP	C	C	G			TCGA-AQ-A04L-01B-21D-A10M-09	TCGA-AQ-A04L-10A-01D-A12J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e8d7feb0-981b-4ba0-b4d4-fa985064444b	c2f7e5fb-0cff-43dd-959e-00f6b1d4b257	g.chrX:49173740C>G	ENST00000407599.3	+	4	394	c.301C>G	c.(301-303)Cca>Gca	p.P101A		NM_001098413.2	NP_001091883.2	A6NGK3	GAG10_HUMAN	G antigen 10	101										breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)	4	Ovarian(276;0.236)					CCTGCCAAATCCAGAGGAGGT	0.488																																						dbGAP											0													149.0	150.0	149.0					X																	49173740		2203	4300	6503	-	-	-	SO:0001583	missense	0					Xp11.23	2010-06-03			ENSG00000215274	ENSG00000215274			30968	protein-coding gene	gene with protein product							Standard	XM_006710256		Approved	OTTHUMG00000024136	uc010nir.1	A6NGK3	OTTHUMG00000024136	ENST00000407599.3:c.301C>G	X.37:g.49173740C>G	ENSP00000385415:p.Pro101Ala	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_GAGE	p.P101A	ENST00000407599.3	37	c.301	CCDS43938.1	X	.	.	.	.	.	.	.	.	.	.	.	5.375	0.254426	0.10185	.	.	ENSG00000215274	ENST00000407599	T	0.08720	3.06	1.4	0.505	0.16953	.	.	.	.	.	T	0.15003	0.0362	L	0.57536	1.79	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.19679	-1.0298	9	0.06625	T	0.88	.	3.3649	0.07199	0.0:0.7151:0.0:0.2849	.	101	A6NGK3	GAG10_HUMAN	A	101	ENSP00000385415:P101A	ENSP00000385415:P101A	P	+	1	0	GAGE10	49060684	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.161000	0.10026	0.103000	0.17682	0.418000	0.28097	CCA	GAGE10	-	pfam_GAGE	ENSG00000215274		0.488	GAGE10-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	GAGE10	HGNC	protein_coding	OTTHUMT00000060816.1	247	0.00	0	C	NM_001098413		49173740	49173740	+1	no_errors	ENST00000407599	ensembl	human	known	69_37n	missense	450	21.22	122	SNP	0.000	G
IL16	3603	genome.wustl.edu	37	15	81598849	81598849	+	Silent	SNP	C	C	T	rs199822525		TCGA-AQ-A04L-01B-21D-A10M-09	TCGA-AQ-A04L-10A-01D-A12J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e8d7feb0-981b-4ba0-b4d4-fa985064444b	c2f7e5fb-0cff-43dd-959e-00f6b1d4b257	g.chr15:81598849C>T	ENST00000302987.4	+	17	3768	c.3768C>T	c.(3766-3768)caC>caT	p.H1256H	RP11-761I4.4_ENST00000607019.1_RNA|IL16_ENST00000394652.2_Silent_p.H555H|IL16_ENST00000394660.2_Silent_p.H1255H			Q14005	IL16_HUMAN	interleukin 16	1256	PDZ 4. {ECO:0000255|PROSITE- ProRule:PRU00143}.				immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|leukocyte chemotaxis (GO:0030595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						GCTCCCTACACGGAGACAAGC	0.567																																						dbGAP											0													133.0	135.0	134.0					15																	81598849		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U82972	CCDS10317.1, CCDS42069.1, CCDS53966.1	15q26.3	2011-07-14	2011-07-14		ENSG00000172349	ENSG00000172349		"""Interleukins and interleukin receptors"""	5980	protein-coding gene	gene with protein product	"""prointerleukin 16"", ""lymphocyte chemoattractant factor"""	603035	"""interleukin 16 (lymphocyte chemoattractant factor)"""			9144227	Standard	NM_004513		Approved	LCF, IL-16, prIL-16, HsT19289, FLJ42735, FLJ16806	uc021ssh.1	Q14005	OTTHUMG00000144186	ENST00000302987.4:c.3768C>T	15.37:g.81598849C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,prints_Interleukin-16,pfscan_PDZ	p.T559M	ENST00000302987.4	37	c.1676	CCDS42069.1	15	.	.	.	.	.	.	.	.	.	.	C	0.607	-0.826474	0.02734	.	.	ENSG00000172349	ENST00000394656	.	.	.	4.08	-5.49	0.02584	.	.	.	.	.	T	0.52175	0.1718	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55464	-0.8137	5	0.52906	T	0.07	.	4.9704	0.14113	0.0858:0.1875:0.1638:0.5628	.	.	.	.	W	554	.	ENSP00000378151:R554W	R	+	1	2	IL16	79385904	0.008000	0.16893	0.011000	0.14972	0.393000	0.30537	-1.242000	0.02908	-1.637000	0.01531	-2.110000	0.00354	CGG	IL16	-	superfamily_PDZ	ENSG00000172349		0.567	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IL16	HGNC	protein_coding	OTTHUMT00000303952.1	38	0.00	0	C	NM_172217		81598849	81598849	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000558332	ensembl	human	putative	69_37n	missense	75	25.00	25	SNP	0.120	T
KCNA6	3742	genome.wustl.edu	37	12	4919736	4919736	+	Missense_Mutation	SNP	G	G	A			TCGA-AQ-A04L-01B-21D-A10M-09	TCGA-AQ-A04L-10A-01D-A12J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e8d7feb0-981b-4ba0-b4d4-fa985064444b	c2f7e5fb-0cff-43dd-959e-00f6b1d4b257	g.chr12:4919736G>A	ENST00000280684.3	+	1	1395	c.529G>A	c.(529-531)Gcc>Acc	p.A177T	RP11-234B24.4_ENST00000542988.1_lincRNA|KCNA6_ENST00000433855.1_Missense_Mutation_p.A177T			P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	177					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49					Dalfampridine(DB06637)	CAGGGGCATCGCCATCGTCTC	0.597										HNSCC(72;0.22)																												dbGAP											0													61.0	55.0	57.0					12																	4919736		2203	4300	6503	-	-	-	SO:0001583	missense	0			X17622	CCDS8534.1	12p13	2014-06-12						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6225	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 96"""	176257				16382104	Standard	NM_002235		Approved	Kv1.6, HBK2, PPP1R96	uc001qng.3	P17658		ENST00000280684.3:c.529G>A	12.37:g.4919736G>A	ENSP00000280684:p.Ala177Thr	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.6,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv	p.A177T	ENST00000280684.3	37	c.529	CCDS8534.1	12	.	.	.	.	.	.	.	.	.	.	G	23.1	4.376688	0.82682	.	.	ENSG00000151079	ENST00000433855;ENST00000280684	T;T	0.70869	-0.52;-0.52	4.99	4.99	0.66335	.	0.108809	0.64402	N	0.000008	T	0.80691	0.4671	M	0.65975	2.015	0.80722	D	1	D	0.61697	0.99	P	0.58391	0.838	T	0.83097	-0.0130	10	0.87932	D	0	.	17.4425	0.87568	0.0:0.0:1.0:0.0	.	177	P17658	KCNA6_HUMAN	T	177	ENSP00000408321:A177T;ENSP00000280684:A177T	ENSP00000280684:A177T	A	+	1	0	KCNA6	4789997	1.000000	0.71417	1.000000	0.80357	0.702000	0.40608	9.650000	0.98490	2.595000	0.87683	0.563000	0.77884	GCC	KCNA6	-	prints_K_chnl,prints_K_chnl_volt-dep_Kv1	ENSG00000151079		0.597	KCNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNA6	HGNC	protein_coding	OTTHUMT00000398909.1	47	0.00	0	G	NM_002235		4919736	4919736	+1	no_errors	ENST00000280684	ensembl	human	known	69_37n	missense	103	40.88	74	SNP	1.000	A
KCNMA1	3778	genome.wustl.edu	37	10	78787645	78787645	+	Missense_Mutation	SNP	A	A	G			TCGA-AQ-A04L-01B-21D-A10M-09	TCGA-AQ-A04L-10A-01D-A12J-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e8d7feb0-981b-4ba0-b4d4-fa985064444b	c2f7e5fb-0cff-43dd-959e-00f6b1d4b257	g.chr10:78787645A>G	ENST00000286628.8	-	16	1863	c.1864T>C	c.(1864-1866)Tgt>Cgt	p.C622R	KCNMA1_ENST00000406533.3_Missense_Mutation_p.C622R|KCNMA1_ENST00000404771.3_Missense_Mutation_p.C622R|KCNMA1_ENST00000372440.1_Missense_Mutation_p.C622R|KCNMA1_ENST00000372443.1_Missense_Mutation_p.C622R|KCNMA1_ENST00000286627.5_Missense_Mutation_p.C622R|KCNMA1_ENST00000354353.5_Missense_Mutation_p.C622R|KCNMA1_ENST00000404857.1_Missense_Mutation_p.C622R	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	622	Segment S8.				blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|micturition (GO:0060073)|negative regulation of cell volume (GO:0045794)|positive regulation of apoptotic process (GO:0043065)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|response to calcium ion (GO:0051592)|response to carbon monoxide (GO:0034465)|response to hypoxia (GO:0001666)|response to osmotic stress (GO:0006970)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	actin binding (GO:0003779)|calcium-activated potassium channel activity (GO:0015269)|large conductance calcium-activated potassium channel activity (GO:0060072)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Chlorzoxazone(DB00356)|Cromoglicic acid(DB01003)|Diazoxide(DB01119)|Halothane(DB01159)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Miconazole(DB01110)|Procaine(DB00721)	TTCACAAAACACAGCCTGCAA	0.488																																						dbGAP											0													116.0	105.0	109.0					10																	78787645		2203	4300	6503	-	-	-	SO:0001583	missense	0			U11717	CCDS7352.1, CCDS60569.1, CCDS60571.1, CCDS60572.1, CCDS73156.1	10q22	2012-07-05			ENSG00000156113	ENSG00000156113		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6284	protein-coding gene	gene with protein product	"""BK channel alpha subunit"""	600150		SLO		7987297, 16382103	Standard	NM_002247		Approved	KCa1.1, mSLO1	uc001jxn.3	Q12791	OTTHUMG00000018543	ENST00000286628.8:c.1864T>C	10.37:g.78787645A>G	ENSP00000286628:p.Cys622Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	Missense_Mutation	SNP	pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_dom,pfam_Ion_trans_2,pfam_RCK_N,prints_K_chnl_Ca-activ_BK_asu,prints_K_chnl	p.C622R	ENST00000286628.8	37	c.1864		10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.60|16.60	3.168714|3.168714	0.57584|0.57584	.|.	.|.	ENSG00000156113|ENSG00000156113	ENST00000372440;ENST00000372408;ENST00000372437;ENST00000457953;ENST00000404771;ENST00000372443;ENST00000286627;ENST00000286628;ENST00000406533;ENST00000354353;ENST00000404857;ENST00000412708|ENST00000372421;ENST00000434208;ENST00000450795	T;T;T;T;T;T;T;T;T|.	0.43688|.	0.94;0.94;0.94;0.94;0.94;0.94;0.94;0.94;0.94|.	4.95|4.95	4.95|4.95	0.65309|0.65309	Potassium channel, calcium-activated, BK, alpha subunit (2);|.	0.106321|.	0.64402|.	D|.	0.000003|.	T|T	0.72053|0.72053	0.3413|0.3413	M|M	0.76838|0.76838	2.35|2.35	0.80722|0.80722	D|D	1|1	D;D;D;D;D;P;D;D|.	0.64830|.	0.974;0.976;0.97;0.964;0.988;0.917;0.994;0.99|.	P;D;D;D;D;P;D;D|.	0.70016|.	0.862;0.957;0.927;0.915;0.945;0.893;0.94;0.967|.	T|T	0.73398|0.73398	-0.3995|-0.3995	10|5	0.87932|.	D|.	0|.	-7.3654|-7.3654	9.9746|9.9746	0.41774|0.41774	0.7736:0.2264:0.0:0.0|0.7736:0.2264:0.0:0.0	.|.	622;622;622;622;622;404;622;622|.	Q12791-4;B7ZMF5;Q12791-2;Q12791;Q12791-5;C9JFZ9;F8WA96;Q5SVJ7|.	.;.;.;KCMA1_HUMAN;.;.;.;.|.	R|A	622;559;557;596;559;622;622;596;622;622;622;404|610;300;114	ENSP00000361517:C622R;ENSP00000361485:C559R;ENSP00000361514:C557R;ENSP00000396608:C596R;ENSP00000361520:C622R;ENSP00000286627:C622R;ENSP00000385552:C622R;ENSP00000346321:C622R;ENSP00000385806:C622R|.	ENSP00000286627:C622R|.	C|V	-|-	1|2	0|0	KCNMA1|KCNMA1	78457651|78457651	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.764000|4.764000	0.62264|0.62264	1.968000|1.968000	0.57251|0.57251	0.533000|0.533000	0.62120|0.62120	TGT|GTG	KCNMA1	-	pfam_K_chnl_Ca-activ_BK_asu,prints_K_chnl_Ca-activ_BK_asu	ENSG00000156113		0.488	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	KCNMA1	HGNC	protein_coding	OTTHUMT00000048885.3	32	0.00	0	A	NM_002247		78787645	78787645	-1	no_errors	ENST00000406533	ensembl	human	known	69_37n	missense	60	24.69	20	SNP	1.000	G
KIAA1456	57604	genome.wustl.edu	37	8	12878609	12878609	+	Missense_Mutation	SNP	G	G	A	rs373979768		TCGA-AQ-A04L-01B-21D-A10M-09	TCGA-AQ-A04L-10A-01D-A12J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e8d7feb0-981b-4ba0-b4d4-fa985064444b	c2f7e5fb-0cff-43dd-959e-00f6b1d4b257	g.chr8:12878609G>A	ENST00000524591.2	+	5	910	c.421G>A	c.(421-423)Gtt>Att	p.V141I	KIAA1456_ENST00000447063.2_Intron	NM_001099677.1|NM_020844.2	NP_001093147.1|NP_065895.2	Q9P272	K1456_HUMAN	KIAA1456	141							methyltransferase activity (GO:0008168)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7						GATGATTTACGTTTGGGCAAT	0.438																																						dbGAP											0													47.0	44.0	45.0					8																	12878609		1881	4105	5986	-	-	-	SO:0001583	missense	0			BC035082	CCDS47808.1	8p22	2013-10-04	2011-02-23	2011-02-23	ENSG00000250305	ENSG00000250305			26725	protein-coding gene	gene with protein product		615666	"""chromosome 8 open reading frame 79"""	C8orf79		23381944	Standard	NM_020844		Approved	FLJ36980	uc010lsq.3	Q8N9K7	OTTHUMG00000165477	ENST00000524591.2:c.421G>A	8.37:g.12878609G>A	ENSP00000432695:p.Val141Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96AW6	Missense_Mutation	SNP	pfam_Methyltransf_11,pfam_Methyltransf_12,pfam_UbiE/COQ5_MeTrFase,pfam_Methyltransferase-rel	p.V141I	ENST00000524591.2	37	c.421	CCDS47808.1	8	.	.	.	.	.	.	.	.	.	.	G	21.6	4.178070	0.78564	.	.	ENSG00000250305	ENST00000524591;ENST00000529978	T	0.44881	0.91	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.73999	0.3659	M	0.92317	3.295	0.80722	D	1	D	0.89917	1.0	D	0.72338	0.977	T	0.80058	-0.1541	10	0.72032	D	0.01	-25.0468	19.7937	0.96469	0.0:0.0:1.0:0.0	.	141	Q9P272	K1456_HUMAN	I	141;54	ENSP00000432695:V141I	ENSP00000432695:V141I	V	+	1	0	AC135352.2	12922980	1.000000	0.71417	0.271000	0.24616	0.294000	0.27393	9.444000	0.97578	2.749000	0.94314	0.655000	0.94253	GTT	KIAA1456	-	NULL	ENSG00000250305		0.438	KIAA1456-008	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1456	Clone_based_vega_gene	protein_coding	OTTHUMT00000383262.2	20	0.00	0	G	NM_001099677		12878609	12878609	+1	no_errors	ENST00000524591	ensembl	human	known	69_37n	missense	22	45.00	18	SNP	0.995	A
MEIS3	56917	genome.wustl.edu	37	19	47920062	47920062	+	Splice_Site	SNP	T	T	C			TCGA-AQ-A04L-01B-21D-A10M-09	TCGA-AQ-A04L-10A-01D-A12J-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e8d7feb0-981b-4ba0-b4d4-fa985064444b	c2f7e5fb-0cff-43dd-959e-00f6b1d4b257	g.chr19:47920062T>C	ENST00000558555.1	-	3	531	c.344A>G	c.(343-345)cAg>cGg	p.Q115R	MEIS3_ENST00000559524.1_Splice_Site_p.Q115R|MEIS3_ENST00000561293.1_Splice_Site_p.Q115R|MEIS3_ENST00000561096.1_Splice_Site_p.Q203R|MEIS3_ENST00000441740.2_Splice_Site_p.Q115R|MEIS3_ENST00000331559.5_Splice_Site_p.Q115R			Q99687	MEIS3_HUMAN	Meis homeobox 3	115					negative regulation of apoptotic signaling pathway (GO:2001234)|positive regulation of protein kinase B signaling (GO:0051897)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|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 (GO:0043565)			breast(1)|large_intestine(5)|lung(11)|prostate(1)|skin(2)	20		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000198)|OV - Ovarian serous cystadenocarcinoma(262;0.000439)|Epithelial(262;0.0113)|GBM - Glioblastoma multiforme(486;0.0223)		GGTGCCCACCTGCTTGGCAAA	0.672																																						dbGAP											0													36.0	37.0	36.0					19																	47920062		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			BC025404	CCDS33064.1, CCDS46132.1, CCDS74406.1	19q13.32	2012-10-02	2007-02-15		ENSG00000105419	ENSG00000105419		"""Homeoboxes / TALE class"""	29537	protein-coding gene	gene with protein product			"""Meis1, myeloid ecotropic viral integration site 1 homolog 3 (mouse)"""			8950991	Standard	NM_020160		Approved	MRG2, DKFZp547H236	uc002pgt.4	Q99687	OTTHUMG00000172280	ENST00000558555.1:c.345+1A>G	19.37:g.47920062T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1N5|Q6NT73|Q8TC66|Q9NPW2	Missense_Mutation	SNP	pfam_Homeodomain,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.Q115R	ENST00000558555.1	37	c.344		19	.	.	.	.	.	.	.	.	.	.	T	19.86	3.905133	0.72868	.	.	ENSG00000105419	ENST00000331559;ENST00000441740	T;T	0.36520	1.25;1.25	3.43	3.43	0.39272	.	0.000000	0.64402	D	0.000002	T	0.51092	0.1654	M	0.66939	2.045	0.50813	D	0.999893	P;P;D;D	0.61080	0.553;0.935;0.989;0.981	B;P;P;P	0.61003	0.089;0.615;0.882;0.725	T	0.55786	-0.8086	10	0.87932	D	0	4.3456	10.5248	0.44941	0.0:0.0:0.0:1.0	.	24;115;115;115	Q8TCW1;Q99687;Q99687-3;Q99687-2	.;MEIS3_HUMAN;.;.	R	115	ENSP00000333552:Q115R;ENSP00000388667:Q115R	ENSP00000333552:Q115R	Q	-	2	0	MEIS3	52611874	1.000000	0.71417	1.000000	0.80357	0.795000	0.44927	7.540000	0.82074	1.826000	0.53198	0.397000	0.26171	CAG	MEIS3	-	NULL	ENSG00000105419		0.672	MEIS3-005	NOVEL	basic|appris_candidate_longest	protein_coding	MEIS3	HGNC	protein_coding	OTTHUMT00000417642.1	71	0.00	0	T	XM_085929	Missense_Mutation	47920062	47920062	-1	no_errors	ENST00000559524	ensembl	human	known	69_37n	missense	68	11.69	9	SNP	1.000	C
NHSL2	340527	genome.wustl.edu	37	X	71359877	71359877	+	Missense_Mutation	SNP	G	G	T			TCGA-AQ-A04L-01B-21D-A10M-09	TCGA-AQ-A04L-10A-01D-A12J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e8d7feb0-981b-4ba0-b4d4-fa985064444b	c2f7e5fb-0cff-43dd-959e-00f6b1d4b257	g.chrX:71359877G>T	ENST00000373677.1	+	2	2643	c.1381G>T	c.(1381-1383)Gac>Tac	p.D461Y	NHSL2_ENST00000535692.1_Missense_Mutation_p.D461Y|NHSL2_ENST00000540800.1_Missense_Mutation_p.D827Y|NHSL2_ENST00000510661.1_Missense_Mutation_p.D596Y			Q5HYW2	NHSL2_HUMAN	NHS-like 2	461										NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					TACTCAGTCCGACCTACGTTC	0.512																																						dbGAP											0													69.0	59.0	63.0					X																	71359877		2202	4300	6502	-	-	-	SO:0001583	missense	0					Xq13.1	2009-02-18			ENSG00000204131	ENSG00000204131			33737	protein-coding gene	gene with protein product							Standard	NM_001013627		Approved		uc011mqa.2	Q5HYW2	OTTHUMG00000021807	ENST00000373677.1:c.1381G>T	X.37:g.71359877G>T	ENSP00000362781:p.Asp461Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RN94	Missense_Mutation	SNP	NULL	p.D827Y	ENST00000373677.1	37	c.2479		X	.	.	.	.	.	.	.	.	.	.	G	17.40	3.381170	0.61845	.	.	ENSG00000204131	ENST00000540800;ENST00000373677;ENST00000510661;ENST00000535692	T;T;T;T	0.48836	1.42;0.82;0.8;0.82	5.41	5.41	0.78517	.	0.062137	0.64402	D	0.000009	T	0.65417	0.2689	L	0.56769	1.78	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.998	T	0.67417	-0.5676	10	0.72032	D	0.01	-12.6517	15.3329	0.74229	0.0:0.0:1.0:0.0	.	827;596;461	F5H593;D6RBM4;Q5HYW2	.;.;NHSL2_HUMAN	Y	827;461;596;461	ENSP00000444617:D827Y;ENSP00000362781:D461Y;ENSP00000424079:D596Y;ENSP00000444914:D461Y	ENSP00000362781:D461Y	D	+	1	0	NHSL2	71276602	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.503000	0.97984	2.506000	0.84524	0.600000	0.82982	GAC	NHSL2	-	NULL	ENSG00000204131		0.512	NHSL2-001	KNOWN	basic	protein_coding	NHSL2	HGNC	protein_coding	OTTHUMT00000057170.1	121	0.00	0	G	NM_001013627		71359877	71359877	+1	no_errors	ENST00000540800	ensembl	human	known	69_37n	missense	162	18.50	37	SNP	1.000	T
NT5C3A	51251	genome.wustl.edu	37	7	33075569	33075569	+	Intron	SNP	C	C	G			TCGA-AQ-A04L-01B-21D-A10M-09	TCGA-AQ-A04L-10A-01D-A12J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e8d7feb0-981b-4ba0-b4d4-fa985064444b	c2f7e5fb-0cff-43dd-959e-00f6b1d4b257	g.chr7:33075569C>G	ENST00000242210.7	-	2	230				NT5C3A_ENST00000610140.1_Intron|NT5C3A_ENST00000409467.1_5'UTR|NT5C3A_ENST00000396152.2_Missense_Mutation_p.E5Q|NT5C3A_ENST00000405342.1_Missense_Mutation_p.E5Q|AVL9_ENST00000404479.1_Intron|NT5C3A_ENST00000409787.1_Missense_Mutation_p.E5Q|NT5C3A_ENST00000381626.2_5'UTR	NM_001002009.2|NM_001002010.2	NP_001002009.1|NP_001002010.1	Q9H0P0	5NT3A_HUMAN	5'-nucleotidase, cytosolic IIIA						dephosphorylation (GO:0016311)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide metabolic process (GO:0009117)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|pyrimidine nucleoside metabolic process (GO:0006213)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	2'-phosphotransferase activity (GO:0008665)|5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)										ACGGCAGACTCTTGATTAGTC	0.358																																						dbGAP											0													192.0	188.0	190.0					7																	33075569		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AF312735	CCDS34616.1, CCDS34617.1, CCDS55101.1	7p14.3	2013-03-06	2013-03-06	2013-03-06	ENSG00000122643	ENSG00000122643	3.1.3.5		17820	protein-coding gene	gene with protein product	"""lupin"""	606224	"""5'-nucleotidase, cytosolic III"""	NT5C3		11042152, 10942414	Standard	NM_001002010		Approved	UMPH1, PSN1, PN-I, UMPH, P5'N-1, cN-III, p36, POMP, hUMP1	uc003tdk.4	Q9H0P0	OTTHUMG00000152983	ENST00000242210.7:c.154-9042G>C	7.37:g.33075569C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K253|B2RAA5|B8ZZC4|Q6IPZ1|Q6NXS6|Q7L3G6|Q9P0P5|Q9UC42|Q9UC43|Q9UC44|Q9UC45	Missense_Mutation	SNP	pfam_Pyrimidine_nucleotidase_eu,superfamily_HAD-like_dom,tigrfam_Pyrimidine_nucleotidase_eu	p.E5Q	ENST00000242210.7	37	c.13	CCDS34616.1	7	.	.	.	.	.	.	.	.	.	.	C	12.24	1.877728	0.33162	.	.	ENSG00000122643	ENST00000396152;ENST00000405342;ENST00000409787	T;T	0.32023	1.47;1.47	5.96	5.96	0.96718	.	.	.	.	.	T	0.19446	0.0467	N	0.08118	0	0.80722	D	1	B	0.29301	0.241	B	0.31101	0.124	T	0.09185	-1.0686	9	0.35671	T	0.21	.	15.9009	0.79377	0.0:1.0:0.0:0.0	.	5	Q9H0P0-1	.	Q	5	ENSP00000379456:E5Q;ENSP00000385261:E5Q	ENSP00000379456:E5Q	E	-	1	0	NT5C3	33042094	0.999000	0.42202	0.997000	0.53966	0.863000	0.49368	3.549000	0.53681	2.826000	0.97356	0.655000	0.94253	GAG	NT5C3	-	NULL	ENSG00000122643		0.358	NT5C3A-001	KNOWN	basic|CCDS	protein_coding	NT5C3	HGNC	protein_coding	OTTHUMT00000328880.1	73	0.00	0	C	NM_016489		33075569	33075569	-1	no_errors	ENST00000396152	ensembl	human	known	69_37n	missense	1124	16.17	217	SNP	1.000	G
OLIG3	167826	genome.wustl.edu	37	6	137815024	137815024	+	Missense_Mutation	SNP	C	C	T			TCGA-AQ-A04L-01B-21D-A10M-09	TCGA-AQ-A04L-10A-01D-A12J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e8d7feb0-981b-4ba0-b4d4-fa985064444b	c2f7e5fb-0cff-43dd-959e-00f6b1d4b257	g.chr6:137815024C>T	ENST00000367734.2	-	1	507	c.284G>A	c.(283-285)cGg>cAg	p.R95Q		NM_175747.2	NP_786923.1	Q7RTU3	OLIG3_HUMAN	oligodendrocyte transcription factor 3	95	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				spinal cord motor neuron cell fate specification (GO:0021520)|spinal cord motor neuron migration (GO:0097476)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II transcription corepressor activity (GO:0001106)			endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11	Breast(32;0.165)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)		GTCGTGCATCCGCTTGCGTTC	0.602																																						dbGAP											0													133.0	99.0	110.0					6																	137815024		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK096362	CCDS5186.1	6q23.3	2013-05-21			ENSG00000177468	ENSG00000177468		"""Basic helix-loop-helix proteins"""	18003	protein-coding gene	gene with protein product		609323					Standard	NM_175747		Approved	Bhlhb7, bHLHe20	uc003qhp.1	Q7RTU3	OTTHUMG00000015657	ENST00000367734.2:c.284G>A	6.37:g.137815024C>T	ENSP00000356708:p.Arg95Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N8Q0	Missense_Mutation	SNP	pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd	p.R95Q	ENST00000367734.2	37	c.284	CCDS5186.1	6	.	.	.	.	.	.	.	.	.	.	C	29.1	4.976309	0.92982	.	.	ENSG00000177468	ENST00000367734	D	0.99722	-6.53	5.54	5.54	0.83059	Helix-loop-helix DNA-binding (5);	0.070560	0.52532	D	0.000072	D	0.99862	0.9935	H	0.96633	3.855	0.80722	D	1	D	0.69078	0.997	D	0.70487	0.969	D	0.96744	0.9549	10	0.87932	D	0	-0.6094	19.4745	0.94982	0.0:1.0:0.0:0.0	.	95	Q7RTU3	OLIG3_HUMAN	Q	95	ENSP00000356708:R95Q	ENSP00000356708:R95Q	R	-	2	0	OLIG3	137856717	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	7.814000	0.86154	2.592000	0.87571	0.591000	0.81541	CGG	OLIG3	-	pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd	ENSG00000177468		0.602	OLIG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OLIG3	HGNC	protein_coding	OTTHUMT00000042405.1	26	0.00	0	C	NM_175747		137815024	137815024	-1	no_errors	ENST00000367734	ensembl	human	known	69_37n	missense	178	20.18	45	SNP	1.000	T
PDPR	55066	genome.wustl.edu	37	16	70154554	70154554	+	Silent	SNP	G	G	A			TCGA-AQ-A04L-01B-21D-A10M-09	TCGA-AQ-A04L-10A-01D-A12J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e8d7feb0-981b-4ba0-b4d4-fa985064444b	c2f7e5fb-0cff-43dd-959e-00f6b1d4b257	g.chr16:70154554G>A	ENST00000288050.4	+	3	1116	c.159G>A	c.(157-159)acG>acA	p.T53T	PDPR_ENST00000568530.1_Silent_p.T53T|PDPR_ENST00000398122.3_Intron	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	53					cellular metabolic process (GO:0044237)|glycine catabolic process (GO:0006546)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|oxidoreductase activity (GO:0016491)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		GTGGAATCACGGGCACTTCTG	0.567																																						dbGAP											0													76.0	75.0	75.0					16																	70154554		2049	4209	6258	-	-	-	SO:0001819	synonymous_variant	0				CCDS45520.1	16q22.1	2010-08-24			ENSG00000090857	ENSG00000090857			30264	protein-coding gene	gene with protein product						9395502	Standard	NM_017990		Approved	PDP3	uc002eyf.1	Q8NCN5		ENST00000288050.4:c.159G>A	16.37:g.70154554G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A7E298|A8K8Y7|B3KSE1|Q6AI20|Q6AWC9	Silent	SNP	pfam_FAD-dep_OxRdtase,pfam_GCV_T_N,pfam_GCV_T_C,pfam_FAD_bind_dom	p.T53	ENST00000288050.4	37	c.159	CCDS45520.1	16																																																																																			PDPR	-	pfam_FAD-dep_OxRdtase,pfam_FAD_bind_dom	ENSG00000090857		0.567	PDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDPR	HGNC	protein_coding	OTTHUMT00000434502.1	29	0.00	0	G	NM_017990		70154554	70154554	+1	no_errors	ENST00000288050	ensembl	human	known	69_37n	silent	95	11.21	12	SNP	1.000	A
PHF8	23133	genome.wustl.edu	37	X	54029058	54029059	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-AQ-A04L-01B-21D-A10M-09	TCGA-AQ-A04L-10A-01D-A12J-09	AA	AA					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e8d7feb0-981b-4ba0-b4d4-fa985064444b	c2f7e5fb-0cff-43dd-959e-00f6b1d4b257	g.chrX:54029058_54029059delAA	ENST00000357988.5	-	9	1469_1470	c.1111_1112delTT	c.(1111-1113)ttafs	p.L371fs	PHF8_ENST00000338154.6_Frame_Shift_Del_p.L335fs|PHF8_ENST00000338946.6_Frame_Shift_Del_p.L335fs|PHF8_ENST00000322659.8_Frame_Shift_Del_p.L335fs	NM_001184896.1	NP_001171825.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	371	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				brain development (GO:0007420)|G1/S transition of mitotic cell cycle (GO:0000082)|histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of chromatin silencing at rDNA (GO:0061188)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						AAGGCTGTGTAAGAAGTTCCCT	0.485																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB029034	CCDS14355.1, CCDS55418.1, CCDS55419.1, CCDS55420.1	Xp11.22	2013-01-28			ENSG00000172943	ENSG00000172943		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	20672	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1F"""	300560				10470851, 20023638, 20644565	Standard	NM_015107		Approved	ZNF422, KIAA1111, JHDM1F	uc004dsu.3	Q9UPP1	OTTHUMG00000021622	ENST00000357988.5:c.1111_1112delTT	X.37:g.54029058_54029059delAA	ENSP00000350676:p.Leu371fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KMV4|B7Z911|Q5H9U5|Q5JPR9|Q5JPS0|Q5JPS2|Q5JPS3|Q5VUJ4|Q7Z6D4|Q9HAH2	Frame_Shift_Del	DEL	pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger	p.L371fs	ENST00000357988.5	37	c.1112_1111	CCDS55420.1	X																																																																																			PHF8	-	smart_JmjC_dom,pfscan_JmjC_dom	ENSG00000172943		0.485	PHF8-001	KNOWN	basic|CCDS	protein_coding	PHF8	HGNC	protein_coding	OTTHUMT00000056784.2	74	0.00	0	AA	NM_015107		54029058	54029059	-1	no_errors	ENST00000357988	ensembl	human	known	69_37n	frame_shift_del	97	17.50	21	DEL	1.000:1.000	-
PLIN5	440503	genome.wustl.edu	37	19	4529859	4529859	+	Silent	SNP	G	G	A			TCGA-AQ-A04L-01B-21D-A10M-09	TCGA-AQ-A04L-10A-01D-A12J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e8d7feb0-981b-4ba0-b4d4-fa985064444b	c2f7e5fb-0cff-43dd-959e-00f6b1d4b257	g.chr19:4529859G>A	ENST00000381848.3	-	4	356	c.276C>T	c.(274-276)ctC>ctT	p.L92L	CTB-50L17.14_ENST00000586020.1_3'UTR	NM_001013706.2	NP_001013728.2	Q00G26	PLIN5_HUMAN	perilipin 5	92	Essential for lipid droplet targeting. {ECO:0000250}.|Interaction with LIPE. {ECO:0000250}.				lipid particle organization (GO:0034389)|lipid storage (GO:0019915)|mitochondrion localization (GO:0051646)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of lipase activity (GO:0060192)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of triglyceride catabolic process (GO:0010897)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of lipase activity (GO:0060193)|positive regulation of lipid storage (GO:0010884)|positive regulation of sequestering of triglyceride (GO:0010890)|positive regulation of triglyceride biosynthetic process (GO:0010867)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lipid particle (GO:0005811)|mitochondrion (GO:0005739)				endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10						CCCTGCAGGCGAGGCTGTTCA	0.607																																						dbGAP											0													50.0	55.0	53.0					19																	4529859		1985	4148	6133	-	-	-	SO:0001819	synonymous_variant	0			DQ839131	CCDS42473.1	19p13.3	2009-08-12			ENSG00000214456	ENSG00000214456		"""Perilipins"""	33196	protein-coding gene	gene with protein product	"""lipid storage droplet protein 5"""	613248				17234449, 19638644	Standard	NM_001013706		Approved	LSDP5, LSDA5, OXPAT, MLDP	uc002mas.3	Q00G26		ENST00000381848.3:c.276C>T	19.37:g.4529859G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A2RRC1|Q6ZS68	Silent	SNP	pfam_Perilipin,pirsf_Perilipin	p.L92	ENST00000381848.3	37	c.276	CCDS42473.1	19																																																																																			PLIN5	-	pfam_Perilipin,pirsf_Perilipin	ENSG00000214456		0.607	PLIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLIN5	HGNC	protein_coding	OTTHUMT00000458647.1	74	0.00	0	G	NM_001013706		4529859	4529859	-1	no_errors	ENST00000381848	ensembl	human	known	69_37n	silent	260	14.75	45	SNP	0.001	A
PRR21	643905	genome.wustl.edu	37	2	240982144	240982144	+	Frame_Shift_Del	DEL	T	T	-	rs79314166	byFrequency	TCGA-AQ-A04L-01B-21D-A10M-09	TCGA-AQ-A04L-10A-01D-A12J-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e8d7feb0-981b-4ba0-b4d4-fa985064444b	c2f7e5fb-0cff-43dd-959e-00f6b1d4b257	g.chr2:240982144delT	ENST00000408934.1	-	1	255	c.256delA	c.(256-258)agtfs	p.S86fs		NM_001080835.1	NP_001074304.1	Q8WXC7	PRR21_HUMAN	proline rich 21	86	Pro-rich.							p.S86fs*291(2)		NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(5)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	29						GATGAAGGACTGTGGGTGAAG	0.617																																						dbGAP											2	Deletion - Frameshift(2)	upper_aerodigestive_tract(2)											162.0	154.0	157.0					2																	240982144		2058	4126	6184	-	-	-	SO:0001589	frameshift_variant	0			AF453950	CCDS33417.1	2q37.3	2009-04-20			ENSG00000221961	ENSG00000221961			33866	protein-coding gene	gene with protein product							Standard	NM_001080835		Approved		uc010zod.2	Q8WXC7	OTTHUMG00000159174	ENST00000408934.1:c.256delA	2.37:g.240982144delT	ENSP00000386166:p.Ser86fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Del	DEL	NULL	p.S86fs	ENST00000408934.1	37	c.256	CCDS33417.1	2																																																																																			PRR21	-	NULL	ENSG00000221961		0.617	PRR21-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRR21	HGNC	protein_coding		12	0.00	0	T	NM_001080835		240982144	240982144	-1	no_errors	ENST00000408934	ensembl	human	known	69_37n	frame_shift_del	14	12.79	11	DEL	0.000	-
PSMD8	5714	genome.wustl.edu	37	19	38872860	38872860	+	Missense_Mutation	SNP	G	G	A			TCGA-AQ-A04L-01B-21D-A10M-09	TCGA-AQ-A04L-10A-01D-A12J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e8d7feb0-981b-4ba0-b4d4-fa985064444b	c2f7e5fb-0cff-43dd-959e-00f6b1d4b257	g.chr19:38872860G>A	ENST00000215071.4	+	6	973	c.907G>A	c.(907-909)Gcc>Acc	p.A303T	GGN_ENST00000591809.1_5'Flank|PSMD8_ENST00000602911.1_Missense_Mutation_p.A240T|PSMD8_ENST00000592035.1_Missense_Mutation_p.A136T	NM_002812.4	NP_002803.2	P48556	PSMD8_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 8	303					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)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)				central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(1)	6	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GACAGACTACGCCAAGAAGGT	0.547																																						dbGAP											0													47.0	34.0	39.0					19																	38872860		1327	2309	3636	-	-	-	SO:0001583	missense	0			D38047	CCDS12515.2	19q13.2	2009-05-07			ENSG00000099341	ENSG00000099341		"""Proteasome (prosome, macropain) subunits"""	9566	protein-coding gene	gene with protein product						7621825	Standard	NM_002812		Approved	S14, Nin1p, p31, HIP6, HYPF, Rpn12	uc002oii.4	P48556	OTTHUMG00000150691	ENST00000215071.4:c.907G>A	19.37:g.38872860G>A	ENSP00000215071:p.Ala303Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DX18|Q6P1L7	Missense_Mutation	SNP	pfam_COP9_signalosome_subunit_CSN8,pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25	p.A303T	ENST00000215071.4	37	c.907	CCDS12515.2	19	.	.	.	.	.	.	.	.	.	.	G	24.2	4.504013	0.85176	.	.	ENSG00000099341	ENST00000215071	.	.	.	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	T	0.58264	0.2110	L	0.46157	1.445	0.58432	D	0.999994	B;D	0.63880	0.409;0.993	B;P	0.47470	0.262;0.548	T	0.61128	-0.7125	9	0.49607	T	0.09	-29.6443	16.5096	0.84281	0.0:0.0:1.0:0.0	.	210;303	Q5U0B3;P48556	.;PSMD8_HUMAN	T	303	.	ENSP00000215071:A303T	A	+	1	0	PSMD8	43564700	1.000000	0.71417	0.999000	0.59377	0.933000	0.57130	7.201000	0.77847	2.551000	0.86045	0.655000	0.94253	GCC	PSMD8	-	pfam_COP9_signalosome_subunit_CSN8	ENSG00000099341		0.547	PSMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMD8	HGNC	protein_coding	OTTHUMT00000319627.1	50	0.00	0	G	NM_002812		38872860	38872860	+1	no_errors	ENST00000215071	ensembl	human	known	69_37n	missense	74	84.39	438	SNP	1.000	A
QSER1	79832	genome.wustl.edu	37	11	32996910	32996911	+	Intron	INS	-	-	A			TCGA-AQ-A04L-01B-21D-A10M-09	TCGA-AQ-A04L-10A-01D-A12J-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e8d7feb0-981b-4ba0-b4d4-fa985064444b	c2f7e5fb-0cff-43dd-959e-00f6b1d4b257	g.chr11:32996910_32996911insA	ENST00000399302.2	+	12	5402				QSER1_ENST00000527788.1_Intron	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1											breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					CTCATTTACTTAAAAAAAATGT	0.292																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AL834141	CCDS41631.1	11p13	2014-02-12			ENSG00000060749	ENSG00000060749			26154	protein-coding gene	gene with protein product							Standard	XM_006718323		Approved	FLJ21924	uc001mty.3	Q2KHR3		ENST00000399302.2:c.5067+21->A	11.37:g.32996918_32996918dupA		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZU30|Q6ZUR5	Frame_Shift_Ins	INS	NULL	p.M720fs	ENST00000399302.2	37	c.2150_2151	CCDS41631.1	11																																																																																			QSER1	-	NULL	ENSG00000060749		0.292	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QSER1	HGNC	protein_coding	OTTHUMT00000388448.1	45	0.00	0	-	NM_024774		32996910	32996911	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000524678	ensembl	human	putative	69_37n	frame_shift_ins	117	11.36	15	INS	0.003:0.000	A
RBM23	55147	genome.wustl.edu	37	14	23374208	23374208	+	Missense_Mutation	SNP	C	C	A			TCGA-AQ-A04L-01B-21D-A10M-09	TCGA-AQ-A04L-10A-01D-A12J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e8d7feb0-981b-4ba0-b4d4-fa985064444b	c2f7e5fb-0cff-43dd-959e-00f6b1d4b257	g.chr14:23374208C>A	ENST00000359890.3	-	9	935	c.740G>T	c.(739-741)cGa>cTa	p.R247L	RBM23_ENST00000556984.1_5'Flank|RBM23_ENST00000346528.5_Missense_Mutation_p.R213L|RBM23_ENST00000399922.2_Missense_Mutation_p.R231L|RBM23_ENST00000542016.2_Missense_Mutation_p.R77L|RBM23_ENST00000555209.1_5'UTR	NM_001077351.1	NP_001070819.1	Q86U06	RBM23_HUMAN	RNA binding motif protein 23	247					mRNA processing (GO:0006397)	membrane (GO:0016020)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(3)|kidney(2)|lung(3)|prostate(1)|skin(1)	10	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.0128)		GGCTGCCAGTCGGTTTTTCTC	0.517																																						dbGAP											0													123.0	128.0	127.0					14																	23374208		1950	4137	6087	-	-	-	SO:0001583	missense	0			AF275678	CCDS41919.1, CCDS41920.1, CCDS41921.1	14q11.1	2014-07-03	2004-04-23	2004-04-23		ENSG00000100461		"""RNA binding motif (RRM) containing"""	20155	protein-coding gene	gene with protein product	"""coactivator of activating protein-1 and estrogen recep- tors beta"""		"""RNA-binding region (RNP1, RRM) containing 4"""	RNPC4		15694343	Standard	NM_018107		Approved	FLJ10482, CAPERbeta	uc001whg.3	Q86U06		ENST00000359890.3:c.740G>T	14.37:g.23374208C>A	ENSP00000352956:p.Arg247Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DS32|Q8ND16|Q8TB88|Q8WY40|Q9BUJ1|Q9NVV7	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_CC1_SF	p.R247L	ENST00000359890.3	37	c.740	CCDS41921.1	14	.	.	.	.	.	.	.	.	.	.	C	18.65	3.670057	0.67814	.	.	ENSG00000100461	ENST00000359890;ENST00000338980;ENST00000399922;ENST00000346528;ENST00000542016;ENST00000557403	T;T;T;T;T	0.75154	1.28;1.28;3.44;-0.91;3.35	5.8	4.92	0.64577	.	0.107070	0.41097	D	0.000946	T	0.74520	0.3727	N	0.13140	0.3	0.47153	D	0.999335	B;P;B;D	0.76494	0.084;0.743;0.309;0.999	B;B;B;D	0.73380	0.289;0.255;0.152;0.98	T	0.76645	-0.2883	10	0.44086	T	0.13	-2.7338	13.5612	0.61790	0.0:0.9245:0.0:0.0755	.	247;213;231;247	Q86U06-3;Q86U06-4;Q86U06-2;Q86U06	.;.;.;RBM23_HUMAN	L	247;224;231;213;77;77	ENSP00000352956:R247L;ENSP00000382806:R231L;ENSP00000339220:R213L;ENSP00000438504:R77L;ENSP00000452171:R77L	ENSP00000305783:R247L	R	-	2	0	RBM23	22444048	0.988000	0.35896	0.990000	0.47175	0.988000	0.76386	2.673000	0.46858	1.462000	0.47948	0.655000	0.94253	CGA	RBM23	-	tigrfam_CC1_SF	ENSG00000100461		0.517	RBM23-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RBM23	HGNC	protein_coding	OTTHUMT00000413545.3	51	0.00	0	C			23374208	23374208	-1	no_errors	ENST00000359890	ensembl	human	known	69_37n	missense	95	35.81	53	SNP	1.000	A
RNA5-8SP6	100873336	genome.wustl.edu	37	Y	10037868	10037868	+	RNA	SNP	G	G	A			TCGA-AQ-A04L-01B-21D-A10M-09	TCGA-AQ-A04L-10A-01D-A12J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e8d7feb0-981b-4ba0-b4d4-fa985064444b	c2f7e5fb-0cff-43dd-959e-00f6b1d4b257	g.chrY:10037868G>A	ENST00000515896.1	+	0	105									RNA, 5.8S ribosomal pseudogene 6																		CACTTCGAACGCACTTGCGGC	0.562																																						dbGAP											0																																										-	-	-			0					Yp11.2	2012-08-07	2012-08-07	2012-08-07	ENSG00000251705	ENSG00000251705			41960	pseudogene	RNA, pseudogene			"""RNA, 5.8S ribosomal 6"""	RN5-8S6			Standard	NG_033474		Approved						Y.37:g.10037868G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000515896.1	37	NULL		Y																																																																																			RNA5-8SP6	-	-	ENSG00000251705		0.562	RNA5-8SP6-201	KNOWN	basic	rRNA	RNA5-8SP6	HGNC	rRNA		25	0.00	0	G			10037868	10037868	+1	no_errors	ENST00000515896	ensembl	human	known	69_37n	rna	65	15.58	12	SNP	1.000	A
RNLS	55328	genome.wustl.edu	37	10	90122432	90122432	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AQ-A04L-01B-21D-A10M-09	TCGA-AQ-A04L-10A-01D-A12J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e8d7feb0-981b-4ba0-b4d4-fa985064444b	c2f7e5fb-0cff-43dd-959e-00f6b1d4b257	g.chr10:90122432G>A	ENST00000331772.4	-	5	599	c.577C>T	c.(577-579)Cga>Tga	p.R193*	RNLS_ENST00000437752.1_Nonsense_Mutation_p.R110*|RNLS_ENST00000371947.3_Nonsense_Mutation_p.R193*|RNLS_ENST00000466945.1_5'UTR	NM_001031709.2	NP_001026879.2	Q5VYX0	RNLS_HUMAN	renalase, FAD-dependent amine oxidase	193					cardiac left ventricle morphogenesis (GO:0003214)|dopamine metabolic process (GO:0042417)|epinephrine metabolic process (GO:0042414)|heart contraction (GO:0060047)|norepinephrine metabolic process (GO:0042415)|phosphate ion homeostasis (GO:0055062)|regulation of systemic arterial blood pressure (GO:0003073)|response to epinephrine (GO:0071871)|response to ischemia (GO:0002931)|response to norepinephrine (GO:0071873)|response to salt (GO:1902074)	extracellular space (GO:0005615)	oxidoreductase activity (GO:0016491)			breast(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7						AGAGCATATCGAGAGGAGTAG	0.448																																						dbGAP											0													102.0	93.0	96.0					10																	90122432		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			BC005364	CCDS7388.1, CCDS31239.1	10q23.31	2009-04-22	2009-04-22	2009-04-22	ENSG00000184719	ENSG00000184719			25641	protein-coding gene	gene with protein product		609360	"""chromosome 10 open reading frame 59"""	C10orf59		15841207, 17565281	Standard	NM_001031709		Approved	FLJ11218, renalase	uc001kfe.3	Q5VYX0	OTTHUMG00000018692	ENST00000331772.4:c.577C>T	10.37:g.90122432G>A	ENSP00000332530:p.Arg193*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BS33|Q9NUP8	Nonsense_Mutation	SNP	pfam_Amino_oxidase	p.R193*	ENST00000331772.4	37	c.577	CCDS31239.1	10	.	.	.	.	.	.	.	.	.	.	G	47	13.693259	0.99757	.	.	ENSG00000184719	ENST00000371947;ENST00000437752;ENST00000331772	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	.	19.424	0.94734	0.0:0.0:1.0:0.0	.	.	.	.	X	193;110;193	.	ENSP00000332530:R193X	R	-	1	2	RNLS	90112412	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	8.517000	0.90555	2.890000	0.99128	0.585000	0.79938	CGA	RNLS	-	pfam_Amino_oxidase	ENSG00000184719		0.448	RNLS-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RNLS	HGNC	protein_coding	OTTHUMT00000049250.1	42	0.00	0	G	NM_018363		90122432	90122432	-1	no_errors	ENST00000331772	ensembl	human	known	69_37n	nonsense	41	22.64	12	SNP	1.000	A
RPAP2	79871	genome.wustl.edu	37	1	92801915	92801915	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AQ-A04L-01B-21D-A10M-09	TCGA-AQ-A04L-10A-01D-A12J-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e8d7feb0-981b-4ba0-b4d4-fa985064444b	c2f7e5fb-0cff-43dd-959e-00f6b1d4b257	g.chr1:92801915delT	ENST00000610020.1	+	10	1659	c.1550delT	c.(1549-1551)cttfs	p.L518fs		NM_024813.2	NP_079089.2	Q8IXW5	RPAP2_HUMAN	RNA polymerase II associated protein 2	518					dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)|snRNA transcription (GO:0009301)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nucleolus (GO:0005730)|nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	22		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)		TTGCCTGGGCTTCTGGTTCCT	0.303																																						dbGAP											0													70.0	72.0	71.0					1																	92801915		2203	4297	6500	-	-	-	SO:0001589	frameshift_variant	0			AK023212	CCDS740.1	1p22.1	2014-01-28	2007-07-26	2007-07-26	ENSG00000122484	ENSG00000122484			25791	protein-coding gene	gene with protein product		611476	"""chromosome 1 open reading frame 82"""	C1orf82		17643375	Standard	NM_024813		Approved	FLJ13150	uc001dot.2	Q8IXW5	OTTHUMG00000010288	ENST00000610020.1:c.1550delT	1.37:g.92801915delT	ENSP00000476948:p.Leu518fs	Somatic		WXS	Illumina GAIIx	Phase_IV	C9JKB5|Q49AS7|Q9H8Y2	Frame_Shift_Del	DEL	pfam_DUF408	p.L518fs	ENST00000610020.1	37	c.1550	CCDS740.1	1																																																																																			RPAP2	-	NULL	ENSG00000122484		0.303	RPAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPAP2	HGNC	protein_coding	OTTHUMT00000028368.2	63	0.00	0	T	NM_024813		92801915	92801915	+1	no_errors	ENST00000370343	ensembl	human	known	69_37n	frame_shift_del	80	28.45	33	DEL	1.000	-
SCN5A	6331	genome.wustl.edu	37	3	38601670	38601670	+	Missense_Mutation	SNP	C	C	T	rs199473239		TCGA-AQ-A04L-01B-21D-A10M-09	TCGA-AQ-A04L-10A-01D-A12J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e8d7feb0-981b-4ba0-b4d4-fa985064444b	c2f7e5fb-0cff-43dd-959e-00f6b1d4b257	g.chr3:38601670C>T	ENST00000333535.4	-	23	4362	c.4213G>A	c.(4213-4215)Gtg>Atg	p.V1405M	SCN5A_ENST00000449557.2_Missense_Mutation_p.V1351M|SCN5A_ENST00000413689.1_Missense_Mutation_p.V1405M|SCN5A_ENST00000414099.2_Missense_Mutation_p.V1405M|SCN5A_ENST00000443581.1_Missense_Mutation_p.V1404M|SCN5A_ENST00000425664.1_Missense_Mutation_p.V1405M|SCN5A_ENST00000455624.2_Missense_Mutation_p.V1404M|SCN5A_ENST00000450102.2_Missense_Mutation_p.V1351M|SCN5A_ENST00000423572.2_Missense_Mutation_p.V1404M|SCN5A_ENST00000451551.2_Missense_Mutation_p.V1351M			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1405			V -> L (in BRGDA1). {ECO:0000269|PubMed:12106943}.		AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	CCGGCCCCCACGTTGTCAAAG	0.532																																						dbGAP											0			GRCh37	CM023679	SCN5A	M							48.0	49.0	49.0					3																	38601670		2044	4228	6272	-	-	-	SO:0001583	missense	0			AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.4213G>A	3.37:g.38601670C>T	ENSP00000328968:p.Val1405Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu	p.V1405M	ENST00000333535.4	37	c.4213	CCDS46796.1	3	.	.	.	.	.	.	.	.	.	.	C	25.1	4.600040	0.87055	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.98633	-5.04;-5.04;-5.04;-5.04;-5.04;-5.04;-5.04;-5.04;-5.04;-5.04	4.3	4.3	0.51218	Ion transport (1);	0.135786	0.49305	D	0.000142	D	0.99375	0.9780	H	0.94620	3.56	0.58432	D	0.999995	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;0.999	D;D;D;D;D;D;D	0.97110	0.998;0.999;0.999;0.999;0.999;1.0;0.963	D	0.98468	1.0599	10	0.87932	D	0	.	17.3303	0.87261	0.0:1.0:0.0:0.0	.	1351;1404;1405;1405;1405;1404;1405	E9PEF3;E9PHB6;Q14524-6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;.;SCN5A_HUMAN;.;.	M	1405;1404;1405;1351;1404;1405;1405;1404;1351;1351	ENSP00000398962:V1405M;ENSP00000398266:V1404M;ENSP00000410257:V1405M;ENSP00000388797:V1351M;ENSP00000397915:V1404M;ENSP00000416634:V1405M;ENSP00000328968:V1405M;ENSP00000399524:V1404M;ENSP00000403355:V1351M;ENSP00000413996:V1351M	ENSP00000328968:V1405M	V	-	1	0	SCN5A	38576674	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.580000	0.82523	2.388000	0.81334	0.655000	0.94253	GTG	SCN5A	-	pfam_Ion_trans_dom	ENSG00000183873		0.532	SCN5A-014	KNOWN	basic|CCDS	protein_coding	SCN5A	HGNC	protein_coding	OTTHUMT00000377958.1	29	0.00	0	C	NM_198056		38601670	38601670	-1	no_errors	ENST00000333535	ensembl	human	known	69_37n	missense	92	28.68	37	SNP	1.000	T
SFTPA1	653509	genome.wustl.edu	37	10	81372138	81372138	+	Silent	SNP	C	C	T			TCGA-AQ-A04L-01B-21D-A10M-09	TCGA-AQ-A04L-10A-01D-A12J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e8d7feb0-981b-4ba0-b4d4-fa985064444b	c2f7e5fb-0cff-43dd-959e-00f6b1d4b257	g.chr10:81372138C>T	ENST00000398636.3	+	4	381	c.243C>T	c.(241-243)atC>atT	p.I81I	SFTPA1_ENST00000428376.2_Silent_p.I81I|SFTPA1_ENST00000372313.5_Silent_p.I22I|SFTPA1_ENST00000419470.2_Silent_p.I96I|SFTPA1_ENST00000372308.3_Silent_p.I81I	NM_001164644.1|NM_001164646.1|NM_005411.4	NP_001158116.1|NP_001158118.1|NP_005402.3	Q8IWL2	SFTA1_HUMAN	surfactant protein A1	81	Collagen-like.				lipid transport (GO:0006869)|respiratory gaseous exchange (GO:0007585)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|lipid transporter activity (GO:0005319)			endometrium(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			CCCCTGGTATCCCTGGAGAGT	0.622																																						dbGAP											0													120.0	131.0	127.0					10																	81372138		2203	4296	6499	-	-	-	SO:0001819	synonymous_variant	0			BC026229	CCDS44444.1, CCDS44445.1, CCDS44444.2	10q22.3	2012-11-02	2008-08-26			ENSG00000122852		"""Collectins"""	10798	protein-coding gene	gene with protein product	"""surfactant, pulmonary-associated protein A1A"""	178630	"""surfactant, pulmonary-associated protein A1"""	SFTP1			Standard	NM_001093770		Approved	SP-A, SP-A1, COLEC4	uc009xry.3	Q8IWL2		ENST00000398636.3:c.243C>T	10.37:g.81372138C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K3T8|B7ZW50|E3VLD8|E3VLD9|E3VLE0|E3VLE1|G5E9J3|P07714|Q14DV4|Q5RIR5|Q5RIR7|Q6PIT0|Q8TC19	Silent	SNP	pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.I96	ENST00000398636.3	37	c.288	CCDS44445.1	10																																																																																			SFTPA1	-	NULL	ENSG00000122852		0.622	SFTPA1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SFTPA1	HGNC	protein_coding		57	0.00	0	C	NM_005411		81372138	81372138	+1	no_errors	ENST00000419470	ensembl	human	known	69_37n	silent	727	23.90	229	SNP	0.000	T
SIX1	6495	genome.wustl.edu	37	14	61113136	61113136	+	Silent	SNP	G	G	A			TCGA-AQ-A04L-01B-21D-A10M-09	TCGA-AQ-A04L-10A-01D-A12J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e8d7feb0-981b-4ba0-b4d4-fa985064444b	c2f7e5fb-0cff-43dd-959e-00f6b1d4b257	g.chr14:61113136G>A	ENST00000247182.6	-	2	992	c.720C>T	c.(718-720)caC>caT	p.H240H	SIX1_ENST00000554986.1_Silent_p.H67H	NM_005982.3	NP_005973.1	Q15475	SIX1_HUMAN	SIX homeobox 1	240					aorta morphogenesis (GO:0035909)|apoptotic process (GO:0006915)|branching involved in ureteric bud morphogenesis (GO:0001658)|cochlea morphogenesis (GO:0090103)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic skeletal system morphogenesis (GO:0048704)|epithelial cell differentiation (GO:0030855)|facial nerve morphogenesis (GO:0021610)|generation of neurons (GO:0048699)|inner ear development (GO:0048839)|inner ear morphogenesis (GO:0042472)|kidney development (GO:0001822)|mesonephric tubule formation (GO:0072172)|metanephric mesenchyme development (GO:0072075)|middle ear morphogenesis (GO:0042474)|myoblast migration (GO:0051451)|negative regulation of branching involved in ureteric bud morphogenesis (GO:0090191)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|organ induction (GO:0001759)|otic vesicle development (GO:0071599)|outflow tract morphogenesis (GO:0003151)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|protein localization to nucleus (GO:0034504)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of neuron differentiation (GO:0045664)|regulation of protein localization (GO:0032880)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|skeletal muscle tissue development (GO:0007519)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.H240H(1)		breast(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.0201)		AGCTCCTGGCGTGGCCCATAT	0.597																																						dbGAP											1	Substitution - coding silent(1)	lung(1)											95.0	90.0	91.0					14																	61113136		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X91868	CCDS9748.1	14q23.1	2011-06-20	2007-07-13		ENSG00000126778	ENSG00000126778		"""Homeoboxes / SINE class"""	10887	protein-coding gene	gene with protein product		601205	"""sine oculis homeobox (Drosophila) homolog 1"", ""sine oculis homeobox homolog 1 (Drosophila)"", ""deafness, autosomal dominant 23"""	DFNA23		8617500, 15141091	Standard	NM_005982		Approved		uc001xfb.4	Q15475	OTTHUMG00000140334	ENST00000247182.6:c.720C>T	14.37:g.61113136G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q53Y16|Q96H64	Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.H240	ENST00000247182.6	37	c.720	CCDS9748.1	14																																																																																			SIX1	-	NULL	ENSG00000126778		0.597	SIX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIX1	HGNC	protein_coding	OTTHUMT00000276951.3	80	0.00	0	G			61113136	61113136	-1	no_errors	ENST00000247182	ensembl	human	known	69_37n	silent	273	25.95	96	SNP	0.977	A
SLC5A9	200010	genome.wustl.edu	37	1	48698155	48698155	+	Silent	SNP	C	C	T			TCGA-AQ-A04L-01B-21D-A10M-09	TCGA-AQ-A04L-10A-01D-A12J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e8d7feb0-981b-4ba0-b4d4-fa985064444b	c2f7e5fb-0cff-43dd-959e-00f6b1d4b257	g.chr1:48698155C>T	ENST00000438567.2	+	8	1066	c.1014C>T	c.(1012-1014)atC>atT	p.I338I	RP5-1024N4.4_ENST00000606809.1_RNA|SLC5A9_ENST00000236495.5_Silent_p.I363I|SLC5A9_ENST00000420136.2_3'UTR|SLC5A9_ENST00000533824.1_Silent_p.I359I	NM_001011547.2	NP_001011547.2	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9	338					sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						CTGGCATGATCAGCCGGGCCC	0.577																																						dbGAP											0													67.0	69.0	68.0					1																	48698155		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BX648549	CCDS30709.2, CCDS44136.1	1p33	2013-07-19	2013-07-19		ENSG00000117834	ENSG00000117834		"""Solute carriers"""	22146	protein-coding gene	gene with protein product			"""solute carrier family 5 (sodium/glucose cotransporter), member 9"""				Standard	NM_001011547		Approved	SGLT4	uc001crn.2	Q2M3M2	OTTHUMG00000007959	ENST00000438567.2:c.1014C>T	1.37:g.48698155C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KY87|B7ZL45|B7ZL47|E9PAK4|E9PJ08|Q5TET3	Nonsense_Mutation	SNP	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.Q270*	ENST00000438567.2	37	c.808	CCDS30709.2	1																																																																																			SLC5A9	-	NULL	ENSG00000117834		0.577	SLC5A9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A9	HGNC	protein_coding	OTTHUMT00000022061.3	32	0.00	0	C	XM_117174		48698155	48698155	+1	no_errors	ENST00000425816	ensembl	human	known	69_37n	nonsense	74	22.92	22	SNP	1.000	T
SPAG11B	10407	genome.wustl.edu	37	8	7320265	7320265	+	Missense_Mutation	SNP	G	G	A	rs138861652	byFrequency	TCGA-AQ-A04L-01B-21D-A10M-09	TCGA-AQ-A04L-10A-01D-A12J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e8d7feb0-981b-4ba0-b4d4-fa985064444b	c2f7e5fb-0cff-43dd-959e-00f6b1d4b257	g.chr8:7320265G>A	ENST00000297498.2	-	2	344	c.178C>T	c.(178-180)Cgg>Tgg	p.R60W	SPAG11B_ENST00000317900.5_Missense_Mutation_p.R60W|SPAG11B_ENST00000398462.2_Missense_Mutation_p.R60W|SPAG11B_ENST00000361111.2_Missense_Mutation_p.R60W|SPAG11B_ENST00000359758.5_Missense_Mutation_p.R60W	NM_016512.3	NP_057596.1	Q08648	SG11B_HUMAN	sperm associated antigen 11B	60					spermatogenesis (GO:0007283)	extracellular region (GO:0005576)				large_intestine(2)|lung(3)|urinary_tract(1)	6				COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.236)		AAGAGGTCCCGTTTCACTGCG	0.572																																						dbGAP											0													11.0	16.0	14.0					8																	7320265		2119	4198	6317	-	-	-	SO:0001583	missense	0			AF168616	CCDS5964.1, CCDS5965.1, CCDS5966.1, CCDS5967.1, CCDS47774.1	8p23.1	2014-02-21	2007-03-15	2007-03-15	ENSG00000164871	ENSG00000164871			14534	protein-coding gene	gene with protein product	"""epididymal protein 2B"""	606560				8167223, 1693137	Standard	NM_058200		Approved	HE2, EP2, EP2C, EP2D, EDDM2B	uc003wrl.3	Q08648	OTTHUMG00000129219	ENST00000297498.2:c.178C>T	8.37:g.7320265G>A	ENSP00000297498:p.Arg60Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PFH0|Q546A0|Q6ZYB2|Q9H4P8|Q9H4P9|Q9H4Q0|Q9H4Q1|Q9H4Q2|Q9NRT3|Q9NRV4|Q9NRV5|Q9NRV6|Q9NRV7|Q9NRV8	Missense_Mutation	SNP	pfam_Sperm_Ag_HE2,pfam_Defensin_beta-typ	p.R60W	ENST00000297498.2	37	c.178	CCDS5966.1	8	.	.	.	.	.	.	.	.	.	.	G	13.97	2.396207	0.42512	.	.	ENSG00000164871	ENST00000528943;ENST00000359758;ENST00000361111;ENST00000297498;ENST00000398462;ENST00000317900	T;T;T	0.62788	0.92;0.0;0.75	2.58	0.61	0.17580	.	.	.	.	.	T	0.69242	0.3089	L	0.52573	1.65	0.09310	N	1	D;D;D;D;D	0.89917	0.986;1.0;1.0;0.998;0.999	P;D;D;P;P	0.69307	0.537;0.963;0.949;0.738;0.88	T	0.57711	-0.7764	9	0.66056	D	0.02	.	8.3001	0.32008	0.0:0.4868:0.5132:0.0	.	60;60;60;60;60	Q08648-3;A8MZA0;Q08648;Q6PDA7-3;E9PAK7	.;.;SG11B_HUMAN;.;.	W	43;60;60;60;60;60	ENSP00000437154:R43W;ENSP00000354411:R60W;ENSP00000297498:R60W	ENSP00000297498:R60W	R	-	1	2	SPAG11B	7307675	0.000000	0.05858	0.000000	0.03702	0.072000	0.16883	-0.041000	0.12084	0.141000	0.18875	0.454000	0.30748	CGG	SPAG11B	-	pfam_Sperm_Ag_HE2	ENSG00000164871		0.572	SPAG11B-003	KNOWN	basic|CCDS	protein_coding	SPAG11B	HGNC	protein_coding	OTTHUMT00000251390.2	17	0.00	0	G	NM_058202, NM_058200, NM_058201, NM_016512, NM_058203, NM_058206, NM_058207		7320265	7320265	-1	no_errors	ENST00000398462	ensembl	human	known	69_37n	missense	42	22.22	12	SNP	0.000	A
SPTY2D1	144108	genome.wustl.edu	37	11	18631052	18631054	+	3'UTR	DEL	CAA	CAA	-			TCGA-AQ-A04L-01B-21D-A10M-09	TCGA-AQ-A04L-10A-01D-A12J-09	CAA	CAA					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e8d7feb0-981b-4ba0-b4d4-fa985064444b	c2f7e5fb-0cff-43dd-959e-00f6b1d4b257	g.chr11:18631052_18631054delCAA	ENST00000336349.5	-	0	2647_2649				SPTY2D1-AS1_ENST00000501599.2_RNA	NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)											breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						TTACAGAAATCAAGAGACAACCT	0.424																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			BX647798	CCDS31441.1	11p15.1	2005-10-28			ENSG00000179119	ENSG00000179119			26818	protein-coding gene	gene with protein product							Standard	NM_194285		Approved	FLJ39441, DKFZp686I068	uc001moy.3	Q68D10	OTTHUMG00000167733	ENST00000336349.5:c.*356TTG>-	11.37:g.18631052_18631054delCAA		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6AWA5|Q6MZI5|Q7Z390|Q7Z470|Q86VG8|Q8N3E7|Q8N417|Q8N8I3	RNA	DEL	-	NULL	ENST00000336349.5	37	NULL	CCDS31441.1	11																																																																																			SPTY2D1-AS1	-	-	ENSG00000247595		0.424	SPTY2D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTY2D1-AS1	HGNC	protein_coding	OTTHUMT00000395941.1	19	0.00	0	CAA	NM_194285		18631052	18631054	+1	no_errors	ENST00000501599	ensembl	human	known	69_37n	rna	5	37.50	3	DEL	0.000:0.000:0.000	-
SSPO	23145	genome.wustl.edu	37	7	149500315	149500315	+	RNA	SNP	A	A	C			TCGA-AQ-A04L-01B-21D-A10M-09	TCGA-AQ-A04L-10A-01D-A12J-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e8d7feb0-981b-4ba0-b4d4-fa985064444b	c2f7e5fb-0cff-43dd-959e-00f6b1d4b257	g.chr7:149500315A>C	ENST00000378016.2	+	0	7841							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCCCCACCAGACTGCGAGCTG	0.672																																						dbGAP											0													35.0	45.0	42.0					7																	149500315		2150	4250	6400	-	-	-			0			AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149500315A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q76B61	RNA	SNP	-	NULL	ENST00000378016.2	37	NULL		7																																																																																			SSPO	-	-	ENSG00000197558		0.672	SSPO-202	KNOWN	basic	processed_transcript	SSPO	HGNC	processed_transcript		22	0.00	0	A			149500315	149500315	+1	no_errors	ENST00000378016	ensembl	human	known	69_37n	rna	78	17.89	17	SNP	1.000	C
TGM1	7051	genome.wustl.edu	37	14	24731437	24731437	+	Missense_Mutation	SNP	C	C	T			TCGA-AQ-A04L-01B-21D-A10M-09	TCGA-AQ-A04L-10A-01D-A12J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e8d7feb0-981b-4ba0-b4d4-fa985064444b	c2f7e5fb-0cff-43dd-959e-00f6b1d4b257	g.chr14:24731437C>T	ENST00000206765.6	-	2	245	c.122G>A	c.(121-123)cGt>cAt	p.R41H	TGM1_ENST00000544573.1_5'UTR	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	41	Membrane anchorage region.				cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|organ morphogenesis (GO:0009887)|peptide cross-linking (GO:0018149)	cell-cell adherens junction (GO:0005913)|cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|intrinsic component of membrane (GO:0031224)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	CCAGAAGGAACGGCCTCCTCC	0.652																																						dbGAP											0													65.0	61.0	62.0					14																	24731437		2203	4300	6503	-	-	-	SO:0001583	missense	0			D90287	CCDS9622.1	14q11.2	2013-05-02	2013-05-02		ENSG00000092295	ENSG00000092295	2.3.2.13	"""Transglutaminases"""	11777	protein-coding gene	gene with protein product	"""K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase"""	190195	"""transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase)"""	ICR2		11390390	Standard	NM_000359		Approved	TGASE, TGK, LI, LI1	uc001wod.3	P22735	OTTHUMG00000029329	ENST00000206765.6:c.122G>A	14.37:g.24731437C>T	ENSP00000206765:p.Arg41His	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DWR7|Q197M4	Missense_Mutation	SNP	pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like	p.R41H	ENST00000206765.6	37	c.122	CCDS9622.1	14	.	.	.	.	.	.	.	.	.	.	C	15.37	2.812319	0.50527	.	.	ENSG00000092295	ENST00000206765	D	0.81659	-1.52	4.57	4.57	0.56435	.	0.419328	0.20339	N	0.094267	T	0.81569	0.4850	N	0.24115	0.695	0.58432	D	0.999998	D	0.71674	0.998	D	0.69479	0.964	T	0.82208	-0.0571	10	0.52906	T	0.07	-5.6	12.7206	0.57140	0.0:1.0:0.0:0.0	.	41	P22735	TGM1_HUMAN	H	41	ENSP00000206765:R41H	ENSP00000206765:R41H	R	-	2	0	TGM1	23801277	0.960000	0.32886	0.164000	0.22755	0.909000	0.53808	3.486000	0.53215	2.385000	0.81259	0.491000	0.48974	CGT	TGM1	-	NULL	ENSG00000092295		0.652	TGM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGM1	HGNC	protein_coding	OTTHUMT00000073160.6	14	0.00	0	C	NM_000359		24731437	24731437	-1	no_errors	ENST00000206765	ensembl	human	known	69_37n	missense	29	21.05	8	SNP	0.100	T
THSD4	79875	genome.wustl.edu	37	15	71704117	71704117	+	Silent	SNP	C	C	T			TCGA-AQ-A04L-01B-21D-A10M-09	TCGA-AQ-A04L-10A-01D-A12J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e8d7feb0-981b-4ba0-b4d4-fa985064444b	c2f7e5fb-0cff-43dd-959e-00f6b1d4b257	g.chr15:71704117C>T	ENST00000355327.3	+	7	1241	c.1107C>T	c.(1105-1107)ccC>ccT	p.P369P	THSD4_ENST00000261862.6_Silent_p.P369P			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	369					elastic fiber assembly (GO:0048251)	extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						ATGGCACCCCCTGTGACCAGA	0.522																																						dbGAP											0													73.0	76.0	75.0					15																	71704117		2116	4238	6354	-	-	-	SO:0001819	synonymous_variant	0			AK023772	CCDS10238.2, CCDS66817.1	15q23	2009-11-09			ENSG00000187720	ENSG00000187720			25835	protein-coding gene	gene with protein product		614476				19734141	Standard	NM_001286429		Approved	FVSY9334, PRO34005, FLJ13710, ADAMTSL6	uc002atb.1	Q6ZMP0	OTTHUMG00000133389	ENST00000355327.3:c.1107C>T	15.37:g.71704117C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTY3|B4DR13|Q6MZI3|Q6UXZ8|Q9H8E4	Silent	SNP	pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt	p.P369	ENST00000355327.3	37	c.1107	CCDS10238.2	15																																																																																			THSD4	-	NULL	ENSG00000187720		0.522	THSD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	THSD4	HGNC	protein_coding	OTTHUMT00000257253.2	26	0.00	0	C	NM_024817		71704117	71704117	+1	no_errors	ENST00000261862	ensembl	human	known	69_37n	silent	29	29.27	12	SNP	0.996	T
TLR8	51311	genome.wustl.edu	37	X	12938876	12938876	+	Missense_Mutation	SNP	G	G	A			TCGA-AQ-A04L-01B-21D-A10M-09	TCGA-AQ-A04L-10A-01D-A12J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e8d7feb0-981b-4ba0-b4d4-fa985064444b	c2f7e5fb-0cff-43dd-959e-00f6b1d4b257	g.chrX:12938876G>A	ENST00000218032.6	+	2	1804	c.1717G>A	c.(1717-1719)Gta>Ata	p.V573I	TLR8_ENST00000311912.5_Missense_Mutation_p.V591I	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	573					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|immunoglobulin mediated immune response (GO:0016064)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|regulation of cytokine secretion (GO:0050707)|response to virus (GO:0009615)|toll-like receptor 8 signaling pathway (GO:0034158)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50					Imiquimod(DB00724)	AATAGCAGGCGTAACACATCA	0.323																																						dbGAP											0													42.0	43.0	42.0					X																	12938876		2203	4298	6501	-	-	-	SO:0001583	missense	0			AF246971	CCDS14152.1, CCDS14153.1	Xp22	2009-11-23			ENSG00000101916	ENSG00000101916		"""CD molecules"""	15632	protein-coding gene	gene with protein product		300366				11022119	Standard	NM_138636		Approved	CD288	uc004cve.3	Q9NR97	OTTHUMG00000021145	ENST00000218032.6:c.1717G>A	X.37:g.12938876G>A	ENSP00000218032:p.Val573Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B3Y654|D1CS70|D1CS76|Q495P4|Q6UXL6|Q9NYG9	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_TIR_dom,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom	p.V573I	ENST00000218032.6	37	c.1717	CCDS14152.1	X	.	.	.	.	.	.	.	.	.	.	G	2.546	-0.305285	0.05495	.	.	ENSG00000101916	ENST00000218032;ENST00000311912	T;T	0.44482	0.92;0.92	5.97	5.1	0.69264	.	0.000000	0.36854	N	0.002365	T	0.27697	0.0681	L	0.49455	1.56	0.23010	N	0.998436	P;P	0.49635	0.926;0.926	B;B	0.33454	0.164;0.164	T	0.30679	-0.9970	10	0.12103	T	0.63	.	10.2753	0.43506	0.1918:0.0:0.8082:0.0	.	573;591	Q9NR97;D1CS70	TLR8_HUMAN;.	I	573;591	ENSP00000218032:V573I;ENSP00000312082:V591I	ENSP00000218032:V573I	V	+	1	0	TLR8	12848797	0.518000	0.26234	0.290000	0.24890	0.545000	0.35147	0.784000	0.26816	2.532000	0.85374	0.600000	0.82982	GTA	TLR8	-	NULL	ENSG00000101916		0.323	TLR8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR8	HGNC	protein_coding	OTTHUMT00000055784.2	29	0.00	0	G	NM_016610		12938876	12938876	+1	no_errors	ENST00000218032	ensembl	human	known	69_37n	missense	22	24.14	7	SNP	0.176	A
TMIGD2	126259	genome.wustl.edu	37	19	4298146	4298146	+	Silent	SNP	G	G	A	rs200688197		TCGA-AQ-A04L-01B-21D-A10M-09	TCGA-AQ-A04L-10A-01D-A12J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e8d7feb0-981b-4ba0-b4d4-fa985064444b	c2f7e5fb-0cff-43dd-959e-00f6b1d4b257	g.chr19:4298146G>A	ENST00000301272.2	-	2	288	c.243C>T	c.(241-243)tgC>tgT	p.C81C	TMIGD2_ENST00000600349.1_Intron|TMIGD2_ENST00000600114.1_Intron|TMIGD2_ENST00000595645.1_Silent_p.C81C	NM_001169126.1|NM_144615.2	NP_001162597.1|NP_653216.2	Q96BF3	TMIG2_HUMAN	transmembrane and immunoglobulin domain containing 2	81	Ig-like.				positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cytokine production (GO:0001819)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(2)	19				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTGGGGCCCGCAGACCCCCA	0.662													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15152	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													42.0	41.0	41.0					19																	4298146		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC015655	CCDS12126.1, CCDS59334.1	19p13.3	2014-02-12	2006-07-05					"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	28324	protein-coding gene	gene with protein product		614715					Standard	NM_144615		Approved	MGC23244	uc002lzx.2	Q96BF3		ENST00000301272.2:c.243C>T	19.37:g.4298146G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6UW59	Silent	SNP	smart_Ig_sub,pfscan_Ig-like	p.C81	ENST00000301272.2	37	c.243	CCDS12126.1	19																																																																																			TMIGD2	-	smart_Ig_sub,pfscan_Ig-like	ENSG00000167664		0.662	TMIGD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TMIGD2	HGNC	protein_coding	OTTHUMT00000458088.1	22	0.00	0	G	NM_144615		4298146	4298146	-1	no_errors	ENST00000301272	ensembl	human	known	69_37n	silent	91	15.60	17	SNP	0.198	A
TP53	7157	genome.wustl.edu	37	17	7578271	7578271	+	Missense_Mutation	SNP	T	T	C			TCGA-AQ-A04L-01B-21D-A10M-09	TCGA-AQ-A04L-10A-01D-A12J-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e8d7feb0-981b-4ba0-b4d4-fa985064444b	c2f7e5fb-0cff-43dd-959e-00f6b1d4b257	g.chr17:7578271T>C	ENST00000269305.4	-	6	767	c.578A>G	c.(577-579)cAt>cGt	p.H193R	TP53_ENST00000420246.2_Missense_Mutation_p.H193R|TP53_ENST00000445888.2_Missense_Mutation_p.H193R|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.H193R|TP53_ENST00000359597.4_Missense_Mutation_p.H193R|TP53_ENST00000413465.2_Missense_Mutation_p.H193R	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	193	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7887414}.|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).		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.H193R(80)|p.H193L(42)|p.H193P(18)|p.0?(8)|p.?(6)|p.H61R(4)|p.H100R(4)|p.H100L(4)|p.H61L(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.H193fs*16(3)|p.P191fs*53(2)|p.H61P(2)|p.H100P(2)|p.A189fs*53(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P98_E105>Q(1)|p.H193_I195>AP(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)	TCGGATAAGATGCTGAGGAGG	0.562		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)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	193	Substitution - Missense(160)|Whole gene deletion(8)|Complex - deletion inframe(6)|Unknown(6)|Deletion - In frame(5)|Deletion - Frameshift(4)|Insertion - Frameshift(3)|Complex - frameshift(1)	lung(36)|upper_aerodigestive_tract(26)|ovary(20)|breast(18)|oesophagus(14)|haematopoietic_and_lymphoid_tissue(12)|endometrium(12)|biliary_tract(10)|liver(9)|stomach(7)|central_nervous_system(6)|large_intestine(6)|urinary_tract(5)|skin(5)|bone(4)|pancreas(2)|prostate(1)	GRCh37	CM083194|CM951225	TP53	M							97.0	87.0	90.0					17																	7578271		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.578A>G	17.37:g.7578271T>C	ENSP00000269305:p.His193Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	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.H193R	ENST00000269305.4	37	c.578	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	T	14.03	2.413611	0.42817	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99850	-7.16;-7.16;-7.16;-7.16;-7.16;-7.16;-7.16;-7.16	5.41	4.33	0.51752	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	0.92738	3.34	0.58432	D	0.999992	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.97536	1.0083	10	0.72032	D	0.01	-29.0766	9.707	0.40222	0.0:0.0827:0.0:0.9173	.	154;193;193;100;193;193;193	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	R	193;193;193;193;193;193;182;100;61;100;61	ENSP00000410739:H193R;ENSP00000352610:H193R;ENSP00000269305:H193R;ENSP00000398846:H193R;ENSP00000391127:H193R;ENSP00000391478:H193R;ENSP00000425104:H61R;ENSP00000423862:H100R	ENSP00000269305:H193R	H	-	2	0	TP53	7518996	1.000000	0.71417	0.814000	0.32528	0.023000	0.10783	7.996000	0.88334	1.001000	0.39076	-0.256000	0.11100	CAT	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd	ENSG00000141510		0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	74	0.00	0	T	NM_000546		7578271	7578271	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	missense	94	76.14	300	SNP	0.998	C
UBR5	51366	genome.wustl.edu	37	8	103271312	103271312	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AQ-A04L-01B-21D-A10M-09	TCGA-AQ-A04L-10A-01D-A12J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e8d7feb0-981b-4ba0-b4d4-fa985064444b	c2f7e5fb-0cff-43dd-959e-00f6b1d4b257	g.chr8:103271312C>A	ENST00000520539.1	-	57	8608	c.8002G>T	c.(8002-8004)Gaa>Taa	p.E2668*	UBR5_ENST00000518205.1_Nonsense_Mutation_p.E396*|KB-431C1.5_ENST00000606361.1_RNA|UBR5_ENST00000521922.1_Nonsense_Mutation_p.E2661*|UBR5_ENST00000220959.4_Nonsense_Mutation_p.E2667*	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2668	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			GTTAAATCTTCTAATGAATTT	0.338																																					Ovarian(131;96 1741 5634 7352 27489)	dbGAP											0													89.0	93.0	91.0					8																	103271312		2202	4299	6501	-	-	-	SO:0001587	stop_gained	0			AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.8002G>T	8.37:g.103271312C>A	ENSP00000429084:p.Glu2668*	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RP24|J3KMW7|O94970|Q9NPL3	Nonsense_Mutation	SNP	pfam_HECT,pfam_E3_UbLigase_EDD_UBA,pfam_PABP_HYD,pfam_Znf_N-recognin,superfamily_HECT,superfamily_PABP_HYD,superfamily_Reg_csome_cond/b-lactamase_inh,smart_Znf_N-recognin_met,smart_PABP_HYD,smart_HECT,pfscan_HECT,pfscan_Znf_N-recognin	p.E2668*	ENST00000520539.1	37	c.8002	CCDS34933.1	8	.	.	.	.	.	.	.	.	.	.	C	53	20.550653	0.99932	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000518205;ENST00000521922	.	.	.	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	.	19.8966	0.96963	0.0:1.0:0.0:0.0	.	.	.	.	X	2668;2667;396;2661	.	ENSP00000220959:E2667X	E	-	1	0	UBR5	103340488	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.700000	0.92200	0.655000	0.94253	GAA	UBR5	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT	ENSG00000104517		0.338	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	UBR5	HGNC	protein_coding	OTTHUMT00000380075.2	96	0.00	0	C	NM_015902		103271312	103271312	-1	no_errors	ENST00000520539	ensembl	human	known	69_37n	nonsense	218	13.49	34	SNP	1.000	A
ZNF479	90827	genome.wustl.edu	37	7	57194380	57194380	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AQ-A04L-01B-21D-A10M-09	TCGA-AQ-A04L-10A-01D-A12J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e8d7feb0-981b-4ba0-b4d4-fa985064444b	c2f7e5fb-0cff-43dd-959e-00f6b1d4b257	g.chr7:57194380C>A	ENST00000331162.4	-	3	355	c.85G>T	c.(85-87)Gaa>Taa	p.E29*		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	29	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E29*(1)|p.E29K(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			CATTGCCATTCCTCCAGAGAG	0.438																																						dbGAP											2	Substitution - Missense(1)|Substitution - Nonsense(1)	ovary(1)|lung(1)											49.0	50.0	50.0					7																	57194380		2172	4276	6448	-	-	-	SO:0001587	stop_gained	0			AF277624	CCDS43590.1	7p11.2	2013-01-08			ENSG00000185177	ENSG00000185177		"""Zinc fingers, C2H2-type"", ""-"""	23258	protein-coding gene	gene with protein product						11410164	Standard	NM_033273		Approved	KR19	uc010kzo.3	Q96JC4	OTTHUMG00000156682	ENST00000331162.4:c.85G>T	7.37:g.57194380C>A	ENSP00000333776:p.Glu29*	Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_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.E29*	ENST00000331162.4	37	c.85	CCDS43590.1	7	.	.	.	.	.	.	.	.	.	.	c	18.05	3.537758	0.65085	.	.	ENSG00000185177	ENST00000331162	.	.	.	1.25	1.25	0.21368	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	8.0193	0.30400	0.0:1.0:0.0:0.0	.	.	.	.	X	29	.	ENSP00000333776:E29X	E	-	1	0	ZNF479	57198322	0.001000	0.12720	0.051000	0.19133	0.007000	0.05969	0.049000	0.14099	0.669000	0.31146	0.393000	0.25936	GAA	ZNF479	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000185177		0.438	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF479	HGNC	protein_coding	OTTHUMT00000345302.1	216	0.00	0	C	XM_291202		57194380	57194380	-1	no_errors	ENST00000331162	ensembl	human	known	69_37n	nonsense	145	25.25	50	SNP	0.420	A
ZNF720	124411	genome.wustl.edu	37	16	31734054	31734054	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AQ-A04L-01B-21D-A10M-09	TCGA-AQ-A04L-10A-01D-A12J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e8d7feb0-981b-4ba0-b4d4-fa985064444b	c2f7e5fb-0cff-43dd-959e-00f6b1d4b257	g.chr16:31734054C>A	ENST00000316491.9	+	2	310	c.111C>A	c.(109-111)taC>taA	p.Y37*	ZNF720_ENST00000539915.1_Intron|ZNF720_ENST00000398696.3_Intron|ZNF720_ENST00000531864.2_Intron|ZNF720_ENST00000534369.1_Intron|ZNF720_ENST00000399681.3_5'UTR	NM_001130913.1	NP_001124385.1	Q7Z2F6	ZN720_HUMAN	zinc finger protein 720	37	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	nucleic acid binding (GO:0003676)			endometrium(1)|kidney(1)|lung(1)|stomach(1)	4						TAGAGAACTACGGAAACCTGG	0.423																																						dbGAP											0													141.0	145.0	144.0					16																	31734054		692	1591	2283	-	-	-	SO:0001587	stop_gained	0			AK128671	CCDS45473.1	16p11.2	2013-01-08				ENSG00000197302		"""Zinc fingers, C2H2-type"", ""-"""	26987	protein-coding gene	gene with protein product							Standard	NM_001130913		Approved		uc002ecq.3	Q7Z2F6		ENST00000316491.9:c.111C>A	16.37:g.31734054C>A	ENSP00000319222:p.Tyr37*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZQX1	Nonsense_Mutation	SNP	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	p.Y37*	ENST00000316491.9	37	c.111	CCDS45473.1	16	.	.	.	.	.	.	.	.	.	.	c	36	5.633412	0.96682	.	.	ENSG00000197302	ENST00000316491;ENST00000530881;ENST00000529515	.	.	.	1.68	0.652	0.17823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.5924	0.17309	0.0:0.8011:0.0:0.1989	.	.	.	.	X	37;78;37	.	ENSP00000319222:Y37X	Y	+	3	2	ZNF720	31641555	0.255000	0.24002	0.348000	0.25681	0.900000	0.52787	0.164000	0.16542	0.058000	0.16222	0.491000	0.48974	TAC	ZNF720	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000197302		0.423	ZNF720-001	KNOWN	basic|CCDS	protein_coding	ZNF720	HGNC	protein_coding	OTTHUMT00000394883.3	193	0.00	0	C	NM_001004300		31734054	31734054	+1	no_errors	ENST00000316491	ensembl	human	known	69_37n	nonsense	373	17.26	78	SNP	0.945	A
