#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_ENSG_ID	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_Ens_Gene	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GMAF	i_HGNC	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_Normal_Alt_Count	i_Normal_Ref_Count	i_Normal_VAF	i_ORegAnno_bin	i_PurityEst	i_RNA_Tum_Ref_count	i_RNA_Tum_VAF	i_RNA_Tum_Var_count	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_Tier	i_Tumor_Alt_Count	i_Tumor_Ref_Count	i_Tumor_VAF	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_WGS_Norm_Ref_count	i_WGS_Norm_VAF	i_WGS_Norm_Var_count	i_WGS_Tum_Ref_count	i_WGS_Tum_VAF	i_WGS_Tum_Var_count	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_deletion_substructures	i_domain	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_rs_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
ZNF257	113835	genome.wustl.edu	37	19	22271887	22271887	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr19:22271887C>A	ENST00000594947.1	+	4	1479	c.1335C>A	c.(1333-1335)taC>taA	p.Y445*		NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	445					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				GGTCTTCATACCTTATTCGAC	0.398																																																	0								ENSG00000197134						47.0	52.0	50.0					19																	22271887		2125	4254	6379	ZNF257	SO:0001587	stop_gained	0			-	HGNC	AF070651	CCDS46030.1	19p12	2014-02-14			ENSG00000197134	ENSG00000197134		"""Zinc fingers, C2H2-type"", ""-"""	13498	protein-coding gene	gene with protein product		606957				10585455	Standard	NM_033468		Approved	BMZF-4	uc010ecx.3	Q9Y2Q1	OTTHUMG00000182927	ENST00000594947.1:c.1335C>A	19.37:g.22271887C>A	ENSP00000470209:p.Tyr445*	Somatic	0	43	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	29	32.56	B3KPS4|E9PG34|Q8NE34	Nonsense_Mutation	SNP	NA	NA	NA	NA	NA	NA	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.Y445*	ENST00000594947.1	37	c.1335	CCDS46030.1	19	.	.	.	.	.	.	.	.	.	.	C	15.54	2.862816	0.51482	.	.	ENSG00000197134	ENST00000435820;ENST00000397123	.	.	.	1.11	-0.0519	0.13824	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999992	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.0147	0.06055	0.261:0.5303:0.0:0.2088	.	.	.	.	X	445;417	.	ENSP00000380312:Y417X	Y	+	3	2	ZNF257	22063727	0.000000	0.05858	0.007000	0.13788	0.004000	0.04260	-2.425000	0.01028	0.518000	0.28383	0.313000	0.20887	TAC	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.398	ZNF257-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF257	protein_coding	OTTHUMT00000464382.1	C		-		22271887	+1	no_errors	ENST00000594947	ensembl	human	known	74_37	nonsense	SNP	0.002	A
LOC101927209	101927209	genome.wustl.edu	37	1	142713030	142713030	+	lincRNA	SNP	C	C	T			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr1:142713030C>T	ENST00000610091.1	-	0	2628																											CATTCATTAGCTTCTTATTTT	0.308																																																	0								ENSG00000203849																																			RP11-417J8.6			0			-	Clone_based_vega_gene																													1.37:g.142713030C>T		Somatic	0	69	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	29	9.38		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000610091.1	37	NULL		1																																																																																			-	-		0.308	RP11-417J8.6-001	KNOWN	basic	lincRNA	ENSG00000203849	lincRNA	OTTHUMT00000037265.2	C		-		142713030	-1	no_errors	ENST00000369381	ensembl	human	known	74_37	rna	SNP	0.024	T
ADAMTS20	80070	genome.wustl.edu	37	12	43823442	43823442	+	Missense_Mutation	SNP	C	C	A			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr12:43823442C>A	ENST00000389420.3	-	24	3466	c.3467G>T	c.(3466-3468)tGg>tTg	p.W1156L	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.W1156L|ADAMTS20_ENST00000395541.2_Intron	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1156	TSP type-1 7. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		ACCATGTCGCCATTGTGCCAT	0.358																																																	0								ENSG00000173157						60.0	55.0	57.0					12																	43823442		2202	4300	6502	ADAMTS20	SO:0001583	missense	0			-	HGNC	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.3467G>T	12.37:g.43823442C>A	ENSP00000374071:p.Trp1156Leu	Somatic	0	96	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	73	22.34	A6NNC9|J3QT00	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.W1156L	ENST00000389420.3	37	c.3467	CCDS31778.2	12	.	.	.	.	.	.	.	.	.	.	C	22.5	4.298740	0.81025	.	.	ENSG00000173157	ENST00000389420;ENST00000553158;ENST00000389417	T;T	0.61158	0.13;0.13	4.89	4.89	0.63831	.	0.276731	0.26341	N	0.024922	D	0.84629	0.5514	H	0.97758	4.07	0.80722	D	1	D	0.76494	0.999	D	0.74023	0.982	D	0.90171	0.4235	10	0.87932	D	0	.	17.918	0.88958	0.0:1.0:0.0:0.0	.	1156	P59510	ATS20_HUMAN	L	1156	ENSP00000374071:W1156L;ENSP00000448341:W1156L	ENSP00000374068:W1156L	W	-	2	0	ADAMTS20	42109709	1.000000	0.71417	0.997000	0.53966	0.935000	0.57460	5.833000	0.69349	2.636000	0.89361	0.591000	0.81541	TGG	-	superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.358	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS20	protein_coding	OTTHUMT00000403643.1	C	NM_025003	-		43823442	-1	no_errors	ENST00000389420	ensembl	human	known	74_37	missense	SNP	1.000	A
R3HDM2	22864	genome.wustl.edu	37	12	57648723	57648723	+	Missense_Mutation	SNP	G	G	T	rs80342146		TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr12:57648723G>T	ENST00000347140.3	-	24	3154	c.2764C>A	c.(2764-2766)Cgc>Agc	p.R922S	R3HDM2_ENST00000402412.1_Missense_Mutation_p.R936S|R3HDM2_ENST00000441731.2_Missense_Mutation_p.R617S|RP11-123K3.4_ENST00000548184.1_Intron|R3HDM2_ENST00000358907.2_Missense_Mutation_p.R922S|R3HDM2_ENST00000403821.2_Missense_Mutation_p.R956S|R3HDM2_ENST00000413953.2_Intron			Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	922						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						TCCGAGTGGCGGCCATTCTCA	0.632																																																	0								ENSG00000179912						61.0	55.0	57.0					12																	57648723		2203	4300	6503	R3HDM2	SO:0001583	missense	0			-	HGNC	AB023219	CCDS8937.2	12q13.3	2012-11-19			ENSG00000179912	ENSG00000179912			29167	protein-coding gene	gene with protein product							Standard	NM_014925		Approved	KIAA1002	uc009zpm.1	Q9Y2K5	OTTHUMG00000171568	ENST00000347140.3:c.2764C>A	12.37:g.57648723G>T	ENSP00000317903:p.Arg922Ser	Somatic	0	52	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	28	12.50	Q2M1T9|Q3ZCT5	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd	p.R922S	ENST00000347140.3	37	c.2764	CCDS8937.2	12	.	.	.	.	.	.	.	.	.	.	G	16.70	3.197287	0.58126	.	.	ENSG00000179912	ENST00000393811;ENST00000347140;ENST00000402412;ENST00000358907;ENST00000441731;ENST00000429355;ENST00000403821	T;T;T;T;T;T;T	0.44083	0.93;1.92;1.93;1.92;0.93;1.52;1.93	5.32	4.43	0.53597	.	0.197877	0.44285	D	0.000477	T	0.25344	0.0616	N	0.22421	0.69	0.29432	N	0.859812	P;P;B;B	0.38827	0.649;0.649;0.253;0.369	B;B;B;B	0.32090	0.14;0.14;0.097;0.099	T	0.25433	-1.0132	10	0.72032	D	0.01	-9.1262	9.0916	0.36614	0.0777:0.0:0.7761:0.1462	.	956;936;922;649	B5MCG9;B5MCU0;Q9Y2K5;E9PAL1	.;.;R3HD2_HUMAN;.	S	649;922;936;922;617;687;956	ENSP00000377400:R649S;ENSP00000317903:R922S;ENSP00000385839:R936S;ENSP00000351784:R922S;ENSP00000408536:R617S;ENSP00000394676:R687S;ENSP00000385169:R956S	ENSP00000317903:R922S	R	-	1	0	R3HDM2	55934990	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.709000	0.37909	1.626000	0.50381	0.655000	0.94253	CGC	-	NULL		0.632	R3HDM2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	R3HDM2	protein_coding	OTTHUMT00000326570.2	G	NM_014925	-		57648723	-1	no_errors	ENST00000347140	ensembl	human	known	74_37	missense	SNP	1.000	T
FAT3	120114	genome.wustl.edu	37	11	92533566	92533566	+	Missense_Mutation	SNP	C	C	A			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr11:92533566C>A	ENST00000298047.6	+	9	7404	c.7387C>A	c.(7387-7389)Cct>Act	p.P2463T	FAT3_ENST00000525166.1_Missense_Mutation_p.P2313T|FAT3_ENST00000409404.2_Missense_Mutation_p.P2463T			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2463	Cadherin 22. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GCGGATGGAGCCTCTGTACAG	0.493										TCGA Ovarian(4;0.039)																																							0								ENSG00000165323						117.0	113.0	115.0					11																	92533566		2021	4189	6210	FAT3	SO:0001583	missense	0			-	HGNC	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.7387C>A	11.37:g.92533566C>A	ENSP00000298047:p.Pro2463Thr	Somatic	0	33	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	11	35.29	B5MDB0|Q96AU6	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.P2463T	ENST00000298047.6	37	c.7387		11	.	.	.	.	.	.	.	.	.	.	C	16.08	3.020930	0.54576	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.51071	0.72;0.72;0.72	5.95	5.95	0.96441	.	.	.	.	.	T	0.38161	0.1030	L	0.38175	1.15	0.80722	D	1	P	0.36959	0.575	B	0.33620	0.167	T	0.16305	-1.0407	9	0.35671	T	0.21	.	14.5295	0.67915	0.0:0.9306:0.0:0.0694	.	2463	Q8TDW7-3	.	T	2463;2463;2313	ENSP00000298047:P2463T;ENSP00000387040:P2463T;ENSP00000432586:P2313T	ENSP00000298047:P2463T	P	+	1	0	FAT3	92173214	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.811000	0.55620	2.824000	0.97209	0.655000	0.94253	CCT	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.493	FAT3-201	KNOWN	basic	protein_coding	FAT3	protein_coding		C	NM_001008781	-		92533566	+1	no_errors	ENST00000298047	ensembl	human	known	74_37	missense	SNP	1.000	A
PCDHB2	56133	genome.wustl.edu	37	5	140474789	140474789	+	Missense_Mutation	SNP	G	G	C			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr5:140474789G>C	ENST00000194155.4	+	1	563	c.415G>C	c.(415-417)Gaa>Caa	p.E139Q		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	139	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTAGACAAAGAAATACTTTT	0.408																																																	0								ENSG00000112852						29.0	33.0	31.0					5																	140474789		2202	4299	6501	PCDHB2	SO:0001583	missense	0			-	HGNC	AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"""Cadherins / Protocadherins : Clustered"""	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.415G>C	5.37:g.140474789G>C	ENSP00000194155:p.Glu139Gln	Somatic	0	54	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	25	35.90	Q4KMU1	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E139Q	ENST00000194155.4	37	c.415	CCDS4244.1	5	.	.	.	.	.	.	.	.	.	.	G	4.073	0.011474	0.07912	.	.	ENSG00000112852	ENST00000194155	T	0.59364	0.27	4.94	4.06	0.47325	Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.54143	0.1840	M	0.62154	1.92	0.09310	N	1	B	0.22746	0.074	B	0.21708	0.036	T	0.49466	-0.8937	9	0.46703	T	0.11	.	10.0108	0.41986	0.1611:0.0:0.8389:0.0	.	139	Q9Y5E7	PCDB2_HUMAN	Q	139	ENSP00000194155:E139Q	ENSP00000194155:E139Q	E	+	1	0	PCDHB2	140454973	0.000000	0.05858	0.995000	0.50966	0.002000	0.02628	-0.114000	0.10757	1.168000	0.42723	0.655000	0.94253	GAA	-	superfamily_Cadherin-like,pfscan_Cadherin		0.408	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB2	protein_coding	OTTHUMT00000251801.2	G	NM_018936	-		140474789	+1	no_errors	ENST00000194155	ensembl	human	known	74_37	missense	SNP	0.003	C
MYH14	79784	genome.wustl.edu	37	19	50766628	50766628	+	Missense_Mutation	SNP	C	C	T	rs202065396		TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr19:50766628C>T	ENST00000596571.1	+	19	2522	c.2522C>T	c.(2521-2523)gCg>gTg	p.A841V	MYH14_ENST00000440075.2_Missense_Mutation_p.A882V|MYH14_ENST00000262269.8_Missense_Mutation_p.A882V|MYH14_ENST00000425460.1_Missense_Mutation_p.A849V|MYH14_ENST00000376970.2_Missense_Mutation_p.A874V|MYH14_ENST00000601313.1_Missense_Mutation_p.A882V|MYH14_ENST00000598205.1_Missense_Mutation_p.A849V			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	841					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		CGGAACTGCGCGGCCTACCTC	0.657													C|||	1	0.000199681	0.0	0.0	5008	,	,		15195	0.0		0.001	False		,,,				2504	0.0																0								ENSG00000105357	C	VAL/ALA,VAL/ALA,VAL/ALA	0,4382		0,0,2191	19.0	23.0	22.0		2546,2645,2522	3.4	0.2	19		22	2,8586		0,2,4292	yes	missense,missense,missense	MYH14	NM_001077186.1,NM_001145809.1,NM_024729.3	64,64,64	0,2,6483	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging	849/2004,882/2037,841/1996	50766628	2,12968	2191	4294	6485	MYH14	SO:0001583	missense	0			-	HGNC	AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"""Myosins / Myosin superfamily : Class II"""	23212	protein-coding gene	gene with protein product		608568	"""myosin, heavy polypeptide 14"", ""myosin, heavy chain 14"""	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.2522C>T	19.37:g.50766628C>T	ENSP00000472819:p.Ala841Val	Somatic	0	52	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	40	29.82	B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.A882V	ENST00000596571.1	37	c.2645	CCDS59411.1	19	.	.	.	.	.	.	.	.	.	.	C	13.71	2.319412	0.41096	0.0	2.33E-4	ENSG00000105357	ENST00000301415;ENST00000440075;ENST00000376970;ENST00000425460;ENST00000376965;ENST00000262269	T;T;T;T	0.71698	-0.59;-0.59;-0.59;-0.59	3.43	3.43	0.39272	.	.	.	.	.	T	0.77844	0.4191	M	0.81614	2.55	0.58432	D	0.999992	D;D;P	0.61697	0.99;0.98;0.93	P;B;B	0.51615	0.675;0.123;0.067	T	0.82118	-0.0615	9	0.66056	D	0.02	.	12.7358	0.57222	0.0:1.0:0.0:0.0	.	882;841;849	Q7Z406-2;Q7Z406;Q7Z406-6	.;MYH14_HUMAN;.	V	841;882;874;849;841;882	ENSP00000406273:A882V;ENSP00000366169:A874V;ENSP00000407879:A849V;ENSP00000262269:A882V	ENSP00000262269:A882V	A	+	2	0	MYH14	55458440	1.000000	0.71417	0.228000	0.23943	0.490000	0.33462	7.487000	0.81328	1.924000	0.55735	0.313000	0.20887	GCG	-	superfamily_P-loop_NTPase		0.657	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	MYH14	protein_coding	OTTHUMT00000464710.2	C	NM_024729	rs202065396		50766628	+1	no_errors	ENST00000262269	ensembl	human	known	74_37	missense	SNP	0.987	T
KRTAP4-5	85289	genome.wustl.edu	37	17	39305775	39305776	+	In_Frame_Ins	INS	-	-	GGCAGCAGCTGGGGC	rs535144703|rs141265645|rs58117746|rs146438235	byFrequency	TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr17:39305775_39305776insGGCAGCAGCTGGGGC	ENST00000343246.4	-	1	278_279	c.244_245insGCCCCAGCTGCTGCC	c.(244-246)cag>cGCCCCAGCTGCTGCCag	p.81_82insRPSCC		NM_033188.3	NP_149445.3	Q9BYR2	KRA45_HUMAN	keratin associated protein 4-5	81	26 X 5 AA repeats of C-C-[GRQVCHIEK]- [SPTR]-[VSTQYC].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			gcaggtggtctggcagcagcag	0.653														2119	0.423123	0.5401	0.4236	5008	,	,		17097	0.3065		0.3897	False		,,,				2504	0.4192																0								ENSG00000198271																																			KRTAP4-5	SO:0001652	inframe_insertion	0				HGNC	AJ406937	CCDS32650.1	17q21.2	2013-06-25			ENSG00000198271	ENSG00000198271		"""Keratin associated proteins"""	18899	protein-coding gene	gene with protein product						11279113	Standard	NM_033188		Approved	KAP4.5	uc002hwb.3	Q9BYR2	OTTHUMG00000133638	ENST00000343246.4:c.244_245insGCCCCAGCTGCTGCC	17.37:g.39305775_39305776insGGCAGCAGCTGGGGC	ENSP00000340546:p.Cys81_Gln82insArgProSerCysCys	Somatic	NA	NA	NA		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA		In_Frame_Ins	INS	NA	NA	NA	NA	NA	NA	NULL	p.82in_frame_insRPSCC	ENST00000343246.4	37	c.245_244	CCDS32650.1	17																																																																																			-	NULL		0.653	KRTAP4-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP4-5	protein_coding	OTTHUMT00000257783.1	-				39305776	-1	no_errors	ENST00000343246	ensembl	human	known	74_37	in_frame_ins	INS	0.148:0.743	GGCAGCAGCTGGGGC
NKD2	85409	genome.wustl.edu	37	5	1038587	1038588	+	3'UTR	INS	-	-	CCCCCAC	rs3840988		TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr5:1038587_1038588insCCCCCAC	ENST00000296849.5	+	0	1684_1685				NKD2_ENST00000382730.2_Frame_Shift_Ins_p.-127fs|NKD2_ENST00000274150.4_3'UTR	NM_033120.3	NP_149111.1	Q969F2	NKD2_HUMAN	naked cuticle homolog 2 (Drosophila)						exocytosis (GO:0006887)|Golgi vesicle fusion to target membrane (GO:0048210)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein processing (GO:0010954)|protein targeting to plasma membrane (GO:0072661)|Wnt signaling pathway (GO:0016055)	basolateral plasma membrane (GO:0016323)|cell periphery (GO:0071944)|cytoplasmic vesicle (GO:0031410)	calcium ion binding (GO:0005509)|growth factor binding (GO:0019838)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1)	14	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)			GGGGAGCCCAGCCCCCACCCCC	0.678																																																	0								ENSG00000145506																																			NKD2	SO:0001624	3_prime_UTR_variant	0				HGNC	AF358137	CCDS3859.1, CCDS59486.1	5p15.3	2013-01-10			ENSG00000145506	ENSG00000145506		"""EF-hand domain containing"""	17046	protein-coding gene	gene with protein product	"""naked cuticle-2"", ""Dvl-binding protein NKD2"""	607852				11356022, 11604995	Standard	NM_033120		Approved	Naked2	uc003jbt.2	Q969F2	OTTHUMG00000090348	ENST00000296849.5:c.*100->CCCCCAC	5.37:g.1038588_1038594dupCCCCCAC		Somatic	NA	NA	NA		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	Q96EK8|Q9BSN0	Frame_Shift_Ins	INS	NA	NA	NA	NA	NA	NA	NULL	p.P129fs	ENST00000296849.5	37	c.373_374	CCDS3859.1	5																																																																																			-	NULL		0.678	NKD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NKD2	protein_coding	OTTHUMT00000206720.2	-	NM_033120			1038588	+1	no_errors	ENST00000382730	ensembl	human	known	74_37	frame_shift_ins	INS	0.051:0.001	CCCCCAC
KIAA2018	205717	genome.wustl.edu	37	3	113379809	113379809	+	Silent	SNP	G	G	A	rs373412362		TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr3:113379809G>A	ENST00000478658.1	-	5	737	c.720C>T	c.(718-720)ccC>ccT	p.P240P	KIAA2018_ENST00000316407.4_Silent_p.P240P|KIAA2018_ENST00000491165.1_Intron			Q68DE3	K2018_HUMAN	KIAA2018	240						membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						TTTCAGAGGTGGGAAGCTCGA	0.483																																																	0								ENSG00000176542						56.0	56.0	56.0					3																	113379809		1942	4139	6081	KIAA2018	SO:0001819	synonymous_variant	0			-	HGNC	AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.720C>T	3.37:g.113379809G>A		Somatic	0	32	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	8	33.33	Q7Z3L9|Q8IVF3|Q9H8T4	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.P240	ENST00000478658.1	37	c.720	CCDS43133.1	3																																																																																			-	NULL		0.483	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	KIAA2018	protein_coding	OTTHUMT00000354591.1	G	NM_001009899	-		113379809	-1	no_errors	ENST00000316407	ensembl	human	known	74_37	silent	SNP	1.000	A
SIK2	23235	genome.wustl.edu	37	11	111575769	111575769	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr11:111575769G>A	ENST00000304987.3	+	8	1180	c.1007G>A	c.(1006-1008)cGc>cAc	p.R336H		NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	336					insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of insulin receptor signaling pathway (GO:0046626)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						TTGGTGGAGCGCCTGAAATCA	0.463																																																	0								ENSG00000170145						159.0	149.0	152.0					11																	111575769		2201	4297	6498	SIK2	SO:0001583	missense	0			-	HGNC	AB018324	CCDS8347.1	11q23.1	2008-12-23	2008-12-23	2008-12-23	ENSG00000170145	ENSG00000170145			21680	protein-coding gene	gene with protein product		608973	"""SNF1-like kinase 2"""	SNF1LK2		15067358	Standard	NM_015191		Approved	KIAA0781, QIK, DKFZp434K1115, LOH11CR1I	uc001plt.3	Q9H0K1	OTTHUMG00000150644	ENST00000304987.3:c.1007G>A	11.37:g.111575769G>A	ENSP00000305976:p.Arg336His	Somatic	0	40	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	15	16.67	A8K5B8|B0YJ94|O94878|Q17RV0|Q6AZE2|Q76N03|Q8NCV7|Q96CZ8	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kinase_SIK1/2,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R336H	ENST00000304987.3	37	c.1007	CCDS8347.1	11	.	.	.	.	.	.	.	.	.	.	G	35	5.480411	0.96307	.	.	ENSG00000170145	ENST00000304987	T	0.77877	-1.13	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	D	0.89448	0.6718	M	0.82517	2.595	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.90267	0.4305	10	0.87932	D	0	.	19.4443	0.94840	0.0:0.0:1.0:0.0	.	336	Q9H0K1	SIK2_HUMAN	H	336	ENSP00000305976:R336H	ENSP00000305976:R336H	R	+	2	0	SIK2	111080979	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.582000	0.82546	2.700000	0.92200	0.563000	0.77884	CGC	-	pirsf_Ser/Thr_kinase_SIK1/2		0.463	SIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIK2	protein_coding	OTTHUMT00000319352.3	G	NM_015191	-		111575769	+1	no_errors	ENST00000304987	ensembl	human	known	74_37	missense	SNP	1.000	A
OR11H4	390442	genome.wustl.edu	37	14	20711361	20711361	+	Silent	SNP	C	C	T			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr14:20711361C>T	ENST00000315409.2	+	1	464	c.411C>T	c.(409-411)tgC>tgT	p.C137C		NM_001004479.1	NP_001004479.1	Q8NGC9	O11H4_HUMAN	olfactory receptor, family 11, subfamily H, member 4	137						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	29	all_cancers(95;0.000888)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)		TGGCCATCTGCCACCCACTGC	0.458																																																	0								ENSG00000176198						153.0	145.0	148.0					14																	20711361		2203	4300	6503	OR11H4	SO:0001819	synonymous_variant	0			-	HGNC		CCDS32034.1	14q11.2	2013-09-24			ENSG00000176198	ENSG00000176198		"""GPCR / Class A : Olfactory receptors"""	15347	protein-coding gene	gene with protein product							Standard	NM_001004479		Approved		uc010tld.2	Q8NGC9	OTTHUMG00000170852	ENST00000315409.2:c.411C>T	14.37:g.20711361C>T		Somatic	0	38	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	9	25.00	B2RNQ4|Q6IF07	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.C137	ENST00000315409.2	37	c.411	CCDS32034.1	14																																																																																			-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.458	OR11H4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR11H4	protein_coding	OTTHUMT00000410678.1	C		-		20711361	+1	no_errors	ENST00000315409	ensembl	human	known	74_37	silent	SNP	0.275	T
MUC16	94025	genome.wustl.edu	37	19	9062319	9062319	+	Missense_Mutation	SNP	G	G	T	rs200990639		TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr19:9062319G>T	ENST00000397910.4	-	3	25330	c.25127C>A	c.(25126-25128)cCc>cAc	p.P8376H		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8378	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGTGGCTTTGGGTGTCTCTGA	0.478																																																	0								ENSG00000181143						177.0	172.0	174.0					19																	9062319		2072	4203	6275	MUC16	SO:0001583	missense	0			-	HGNC	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.25127C>A	19.37:g.9062319G>T	ENSP00000381008:p.Pro8376His	Somatic	0	44	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	37	13.95	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.P8376H	ENST00000397910.4	37	c.25127	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	g	4.011	-0.000628	0.07819	.	.	ENSG00000181143	ENST00000397910	T	0.26223	1.75	2.71	0.404	0.16355	.	.	.	.	.	T	0.15478	0.0373	L	0.34521	1.04	.	.	.	B	0.28850	0.225	B	0.23419	0.046	T	0.22452	-1.0216	8	0.87932	D	0	.	2.9541	0.05870	0.1625:0.0:0.5712:0.2663	.	8376	B5ME49	.	H	8376	ENSP00000381008:P8376H	ENSP00000381008:P8376H	P	-	2	0	MUC16	8923319	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.040000	0.13905	0.173000	0.19788	0.400000	0.26472	CCC	-	NULL		0.478	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	protein_coding	OTTHUMT00000402806.1	G	NM_024690	-		9062319	-1	no_errors	ENST00000397910	ensembl	human	known	74_37	missense	SNP	0.000	T
ITGA10	8515	genome.wustl.edu	37	1	145542263	145542263	+	Missense_Mutation	SNP	G	G	C			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr1:145542263G>C	ENST00000369304.3	+	30	3664	c.3489G>C	c.(3487-3489)gaG>gaC	p.E1163D	RP11-315I20.3_ENST00000415065.2_RNA|ITGA10_ENST00000539363.1_Missense_Mutation_p.E1020D|ITGA10_ENST00000538811.1_Missense_Mutation_p.E1032D	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	1163					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	integrin alpha10-beta1 complex (GO:0034680)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AAAGAGAAGAGAAGTTGGAGC	0.453																																																	0								ENSG00000143127						136.0	146.0	143.0					1																	145542263		2203	4300	6503	ITGA10	SO:0001583	missense	0			-	HGNC	AF074015	CCDS72869.1	1q21.1	2010-03-23			ENSG00000143127	ENSG00000143127		"""Integrins"""	6135	protein-coding gene	gene with protein product		604042				9685391, 10702680	Standard	NM_003637		Approved		uc001eoa.3	O75578	OTTHUMG00000013751	ENST00000369304.3:c.3489G>C	1.37:g.145542263G>C	ENSP00000358310:p.Glu1163Asp	Somatic	0	45	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	47	9.62	B2RAM4|B2RTV5|Q6UXJ6|Q9UHZ8	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.E1163D	ENST00000369304.3	37	c.3489	CCDS918.1	1	.	.	.	.	.	.	.	.	.	.	G	10.57	1.386234	0.25031	.	.	ENSG00000143127	ENST00000369304;ENST00000543043;ENST00000539363;ENST00000538811	T;T;T	0.59638	0.25;0.27;0.26	5.33	3.45	0.39498	.	1.720240	0.02816	N	0.124950	T	0.26231	0.0640	L	0.46157	1.445	0.30205	N	0.798249	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.002;0.002;0.001;0.001	T	0.05716	-1.0868	10	0.10902	T	0.67	.	6.7251	0.23353	0.0885:0.0:0.7369:0.1746	.	1091;1032;1020;1163	F5H3T9;F5GY13;B2RTV5;O75578	.;.;.;ITA10_HUMAN	D	1163;1091;1020;1032	ENSP00000358310:E1163D;ENSP00000439894:E1020D;ENSP00000440011:E1032D	ENSP00000358310:E1163D	E	+	3	2	ITGA10	144253620	0.999000	0.42202	1.000000	0.80357	0.855000	0.48748	1.039000	0.30266	0.809000	0.34255	0.655000	0.94253	GAG	-	NULL		0.453	ITGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA10	protein_coding	OTTHUMT00000038537.2	G	NM_003637	-		145542263	+1	no_errors	ENST00000369304	ensembl	human	known	74_37	missense	SNP	1.000	C
ARHGAP9	64333	genome.wustl.edu	37	12	57872884	57872884	+	Silent	SNP	G	G	T			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr12:57872884G>T	ENST00000356411.2	-	2	444	c.306C>A	c.(304-306)ctC>ctA	p.L102L	ARHGAP9_ENST00000550454.1_5'Flank|ARHGAP9_ENST00000550288.1_Silent_p.L181L|ARHGAP9_ENST00000393797.2_Silent_p.L173L|ARHGAP9_ENST00000424809.2_Silent_p.L102L|ARHGAP9_ENST00000393791.3_Silent_p.L102L|ARHGAP9_ENST00000430041.2_5'Flank			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	102					positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			CAGGAGTCCAGAGCAATTGGC	0.572																																																	0								ENSG00000123329						151.0	135.0	140.0					12																	57872884		2203	4300	6503	ARHGAP9	SO:0001819	synonymous_variant	0			-	HGNC	AB051853	CCDS8941.2, CCDS44928.1, CCDS44929.1	12q13.3	2013-01-10			ENSG00000123329	ENSG00000123329		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	14130	protein-coding gene	gene with protein product		610576				11396949	Standard	NM_032496		Approved	MGC1295, 10C	uc001soc.3	Q9BRR9	OTTHUMG00000150147	ENST00000356411.2:c.306C>A	12.37:g.57872884G>T		Somatic	0	38	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	22	15.38	B4DVI3|E9PDX9|Q8NAF3|Q8TCJ3|Q8WYR0|Q96EZ2|Q96S74	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_WW_dom,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_WW_dom,pfscan_RhoGAP_dom	p.L102	ENST00000356411.2	37	c.306		12																																																																																			-	NULL		0.572	ARHGAP9-201	KNOWN	basic|appris_candidate	protein_coding	ARHGAP9	protein_coding		G	NM_032496	-		57872884	-1	no_errors	ENST00000356411	ensembl	human	known	74_37	silent	SNP	0.813	T
CXADRP3	440224	genome.wustl.edu	37	18	14478196	14478196	+	lincRNA	SNP	C	C	T			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr18:14478196C>T	ENST00000581457.1	-	0	1712					NR_024076.1				coxsackie virus and adenovirus receptor pseudogene 3																		TTGCTCTGTGCGGGAATCATC	0.468																																																	0								ENSG00000265766																																			CXADRP3			0			-	HGNC			18p11.21	2013-09-19			ENSG00000265766	ENSG00000265766			33974	pseudogene	pseudogene							Standard	NR_024076		Approved		uc010xai.2		OTTHUMG00000178700		18.37:g.14478196C>T		Somatic	0	50	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	41	21	66.13		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000581457.1	37	NULL		18																																																																																			-	-		0.468	CXADRP3-001	KNOWN	basic	lincRNA	CXADRP3	lincRNA	OTTHUMT00000443008.1	C	NR_024076	-		14478196	-1	no_errors	ENST00000581457	ensembl	human	known	74_37	rna	SNP	1.000	T
RAPGEF2	9693	genome.wustl.edu	37	4	160251516	160251516	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr4:160251516G>T	ENST00000264431.4	+	7	1269	c.850G>T	c.(850-852)Gtg>Ttg	p.V284L		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	284	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|blood vessel development (GO:0001568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|forebrain neuron development (GO:0021884)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of cell proliferation (GO:0008285)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of melanin biosynthetic process (GO:0048022)|nerve growth factor signaling pathway (GO:0038180)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of vasculogenesis (GO:2001214)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of synaptic plasticity (GO:0048167)|small GTPase mediated signal transduction (GO:0007264)|ventricular system development (GO:0021591)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	beta-1 adrenergic receptor binding (GO:0031697)|calcium ion binding (GO:0005509)|cAMP binding (GO:0030552)|diacylglycerol binding (GO:0019992)|PDZ domain binding (GO:0030165)|Rap GTPase activator activity (GO:0046582)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		AATGCATTTGGTGGAAGAGCA	0.368																																																	0								ENSG00000109756						125.0	118.0	120.0					4																	160251516		1866	4110	5976	RAPGEF2	SO:0001583	missense	0			-	HGNC	AB002311	CCDS43277.1	4q32.1	2004-03-01	2004-03-01	2004-03-01					16854	protein-coding gene	gene with protein product	"""Rap GEP"""	609530	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 1"""	PDZGEF1		9205841, 10934204	Standard	NM_014247		Approved	PDZ-GEF1, RA-GEF, DKFZP586O1422, KIAA0313	uc003iqg.4	Q9Y4G8		ENST00000264431.4:c.850G>T	4.37:g.160251516G>T	ENSP00000264431:p.Val284Leu	Somatic	0	37	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	12	20.00	D3DP27	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_RasGRF_CDC25,pfam_Ras-assoc,pfam_Ras-like_Gua-exchang_fac_N,pfam_PDZ,pfam_cNMP-bd_dom,superfamily_Ras_GEF_dom,superfamily_PDZ,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ras-like_Gua-exchang_fac_N,smart_PDZ,smart_Ras-assoc,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_PDZ,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.V284L	ENST00000264431.4	37	c.850	CCDS43277.1	4	.	.	.	.	.	.	.	.	.	.	G	19.60	3.857748	0.71834	.	.	ENSG00000109756	ENST00000264431	T	0.46451	0.87	5.78	5.78	0.91487	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (3);	0.000000	0.85682	D	0.000000	T	0.36771	0.0979	N	0.17594	0.5	0.80722	D	1	B	0.24092	0.097	B	0.33799	0.17	T	0.12915	-1.0529	10	0.39692	T	0.17	.	20.3668	0.98882	0.0:0.0:1.0:0.0	.	284	Q9Y4G8	RPGF2_HUMAN	L	284	ENSP00000264431:V284L	ENSP00000264431:V284L	V	+	1	0	RAPGEF2	160470966	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	7.972000	0.88022	2.894000	0.99253	0.655000	0.94253	GTG	-	pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N		0.368	RAPGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAPGEF2	protein_coding	OTTHUMT00000364980.2	G	NM_014247	-		160251516	+1	no_errors	ENST00000264431	ensembl	human	known	74_37	missense	SNP	1.000	T
STARD3	10948	genome.wustl.edu	37	17	37818563	37818563	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr17:37818563G>T	ENST00000336308.5	+	14	1417	c.1199G>T	c.(1198-1200)tGc>tTc	p.C400F	STARD3_ENST00000580611.1_Missense_Mutation_p.C374F|STARD3_ENST00000544210.2_Missense_Mutation_p.C400F|TCAP_ENST00000309889.2_5'Flank|STARD3_ENST00000394250.4_Missense_Mutation_p.C382F	NM_001165937.1|NM_006804.3	NP_001159409.1|NP_006795.3	Q14849	STAR3_HUMAN	StAR-related lipid transfer (START) domain containing 3	400	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|mitochondrial transport (GO:0006839)|progesterone biosynthetic process (GO:0006701)|steroid metabolic process (GO:0008202)	cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)	cholesterol binding (GO:0015485)			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(2)|stomach(1)	14	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CCCCGTGTTTGCACCTTTGTC	0.567																																																	0								ENSG00000131748						53.0	54.0	53.0					17																	37818563		2203	4300	6503	STARD3	SO:0001583	missense	0			-	HGNC		CCDS11341.1, CCDS54117.1, CCDS54118.1	17q11-q12	2011-09-12	2007-08-16		ENSG00000131748	ENSG00000131748		"""StAR-related lipid transfer (START) domain containing"""	17579	protein-coding gene	gene with protein product		607048	"""START domain containing 3"""				Standard	NM_006804		Approved	es64, MLN64	uc002hsd.3	Q14849	OTTHUMG00000133213	ENST00000336308.5:c.1199G>T	17.37:g.37818563G>T	ENSP00000337446:p.Cys400Phe	Somatic	0	60	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	9.09	A8MXA4|B4DUY1|F5H0G2|Q53Y53|Q96HM9	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_MENTAL,pfam_START_lipid-bd_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,prints_StAR	p.C400F	ENST00000336308.5	37	c.1199	CCDS11341.1	17	.	.	.	.	.	.	.	.	.	.	G	26.6	4.757453	0.89843	.	.	ENSG00000131748	ENST00000336308;ENST00000544210;ENST00000394250	D;D;D	0.82526	-1.62;-1.62;-1.62	5.78	5.78	0.91487	Lipid-binding START (3);START-like domain (1);	0.095524	0.85682	D	0.000000	D	0.91399	0.7286	M	0.76574	2.34	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.997;0.996;0.999;0.996;0.999	D	0.91616	0.5307	10	0.87932	D	0	.	19.695	0.96022	0.0:0.0:1.0:0.0	.	400;165;400;382;400	F5H0G2;Q59EN9;B4DUY1;A8MXA4;Q14849	.;.;.;.;STAR3_HUMAN	F	400;400;382	ENSP00000337446:C400F;ENSP00000439869:C400F;ENSP00000377794:C382F	ENSP00000337446:C400F	C	+	2	0	STARD3	35072089	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	9.075000	0.94004	2.750000	0.94351	0.549000	0.68633	TGC	-	pfam_START_lipid-bd_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom		0.567	STARD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STARD3	protein_coding	OTTHUMT00000256933.1	G		-		37818563	+1	no_errors	ENST00000336308	ensembl	human	known	74_37	missense	SNP	1.000	T
MYOM2	9172	genome.wustl.edu	37	8	2037929	2037929	+	Silent	SNP	T	T	C			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr8:2037929T>C	ENST00000262113.4	+	15	1884	c.1743T>C	c.(1741-1743)taT>taC	p.Y581Y	MYOM2_ENST00000523438.1_Silent_p.Y6Y	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	581	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		GGAAGTCTTATGTGTTCCGAG	0.587																																																	0								ENSG00000036448						143.0	112.0	123.0					8																	2037929		2203	4300	6503	MYOM2	SO:0001819	synonymous_variant	0			-	HGNC		CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7614	protein-coding gene	gene with protein product		603509	"""myomesin (M-protein) 2 (165kD)"", ""myomesin (M-protein) 2, 165kDa"""				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.1743T>C	8.37:g.2037929T>C		Somatic	0	58	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	10	58.33	Q7Z3Y2	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.Y581	ENST00000262113.4	37	c.1743	CCDS5957.1	8																																																																																			-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.587	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYOM2	protein_coding	OTTHUMT00000251249.1	T	NM_003970	-		2037929	+1	no_errors	ENST00000262113	ensembl	human	known	74_37	silent	SNP	0.551	C
PRR22	163154	genome.wustl.edu	37	19	5783472	5783472	+	Silent	SNP	G	G	A			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr19:5783472G>A	ENST00000419421.2	-	3	890	c.786C>T	c.(784-786)gcC>gcT	p.A262A		NM_001134316.1	NP_001127788.1	Q8IZ63	PRR22_HUMAN	proline rich 22	262										endometrium(2)|large_intestine(1)|prostate(1)|urinary_tract(1)	5						CTCCCAGCAGGGCCCCCTCCT	0.677																																																	0								ENSG00000212123						12.0	15.0	14.0					19																	5783472		2190	4281	6471	PRR22	SO:0001819	synonymous_variant	0			-	HGNC	BC023278	CCDS45933.1	19p13.3	2012-12-20			ENSG00000212123	ENSG00000212123			28354	protein-coding gene	gene with protein product						12477932	Standard	NM_001134316		Approved	MGC24975	uc010xiv.1	Q8IZ63	OTTHUMG00000180553	ENST00000419421.2:c.786C>T	19.37:g.5783472G>A		Somatic	0	25	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	14	33.33	E9PB31	Silent	SNP	NA	NA	NA	NA	NA	NA	NULL	p.A262	ENST00000419421.2	37	c.786	CCDS45933.1	19																																																																																			-	NULL		0.677	PRR22-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRR22	protein_coding	OTTHUMT00000368523.1	G	NM_153359	-		5783472	-1	no_errors	ENST00000419421	ensembl	human	known	74_37	silent	SNP	0.000	A
EPHB4	2050	genome.wustl.edu	37	7	100410739	100410739	+	Missense_Mutation	SNP	C	C	A			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr7:100410739C>A	ENST00000358173.3	-	11	2316	c.1848G>T	c.(1846-1848)aaG>aaT	p.K616N	EPHB4_ENST00000360620.3_Missense_Mutation_p.K616N|EPHB4_ENST00000477446.1_5'Flank	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	616	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|ephrin receptor signaling pathway (GO:0048013)|heart morphogenesis (GO:0003007)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					CCTCTTCAATCTTGACGTAGG	0.547																																					GBM(200;2113 3072 25865 52728)												0								ENSG00000196411						184.0	159.0	168.0					7																	100410739		2203	4300	6503	EPHB4	SO:0001583	missense	0			-	HGNC	AY056047	CCDS5706.1	7q22	2013-02-11	2004-10-28		ENSG00000196411	ENSG00000196411		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3395	protein-coding gene	gene with protein product		600011	"""EphB4"""	HTK		8188704	Standard	NM_004444		Approved	Tyro11	uc003uwn.1	P54760	OTTHUMG00000157040	ENST00000358173.3:c.1848G>T	7.37:g.100410739C>A	ENSP00000350896:p.Lys616Asn	Somatic	0	28	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	8.89	B5A970|B5A971|B5A972|Q7Z635|Q9BTA5|Q9BXP0	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom	p.K616N	ENST00000358173.3	37	c.1848	CCDS5706.1	7	.	.	.	.	.	.	.	.	.	.	C	22.8	4.342387	0.81911	.	.	ENSG00000196411	ENST00000360620;ENST00000358173	D;D	0.83250	-1.7;-1.7	5.0	5.0	0.66597	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.56097	D	0.000024	D	0.87541	0.6203	L	0.41027	1.25	0.58432	D	0.999991	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.88684	0.3204	10	0.72032	D	0.01	.	16.1311	0.81442	0.0:1.0:0.0:0.0	.	616;616	Q96L35;P54760	.;EPHB4_HUMAN	N	616	ENSP00000353833:K616N;ENSP00000350896:K616N	ENSP00000350896:K616N	K	-	3	2	EPHB4	100248675	0.995000	0.38212	1.000000	0.80357	0.871000	0.50021	0.469000	0.22067	2.479000	0.83701	0.650000	0.86243	AAG	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.547	EPHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHB4	protein_coding	OTTHUMT00000347222.1	C	NM_004444	-		100410739	-1	no_errors	ENST00000358173	ensembl	human	known	74_37	missense	SNP	1.000	A
PEPD	5184	genome.wustl.edu	37	19	33877912	33877913	+	3'UTR	INS	-	-	AAAGT	rs140842|rs10659604|rs398120965	byFrequency	TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr19:33877912_33877913insAAAGT	ENST00000244137.7	-	0	1852_1853				PEPD_ENST00000397032.4_3'UTR|PEPD_ENST00000591968.1_5'UTR	NM_000285.3	NP_000276.2	P12955	PEPD_HUMAN	peptidase D						cellular amino acid metabolic process (GO:0006520)|collagen catabolic process (GO:0030574)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)	aminopeptidase activity (GO:0004177)|dipeptidase activity (GO:0016805)|manganese ion binding (GO:0030145)|metallocarboxypeptidase activity (GO:0004181)			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)	17	Esophageal squamous(110;0.137)					ATTTTTGACAGAAAGTATCAGA	0.342														1290	0.257588	0.4213	0.2133	5008	,	,		20834	0.1915		0.2515	False		,,,				2504	0.1421																0								ENSG00000124299																																			PEPD	SO:0001624	3_prime_UTR_variant	0				HGNC	BC015027	CCDS42544.1, CCDS54244.1, CCDS54245.1	19q13.11	2008-02-05				ENSG00000124299	3.4.13.9		8840	protein-coding gene	gene with protein product	"""prolidase"""	613230				2925654, 1972707	Standard	NM_000285		Approved		uc002nur.4	P12955		ENST00000244137.7:c.*338->ACTTT	19.37:g.33877913_33877917dupAAAGT		Somatic	NA	NA	NA		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	A8K3Z1|A8K416|A8K696|A8MX47|B4DDB7|B4DGJ1|E9PCE8|Q8TBN9|Q9BT75	RNA	INS	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000244137.7	37	NULL	CCDS42544.1	19																																																																																			-	-		0.342	PEPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PEPD	protein_coding	OTTHUMT00000451432.3	-	NM_000285			33877913	-1	no_errors	ENST00000589598	ensembl	human	known	74_37	rna	INS	0.016:0.087	AAAGT
ALX4	60529	genome.wustl.edu	37	11	44289129	44289129	+	Missense_Mutation	SNP	C	C	T	rs368050443		TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr11:44289129C>T	ENST00000329255.3	-	3	924	c.821G>A	c.(820-822)cGt>cAt	p.R274H		NM_021926.3	NP_068745.2	Q9H161	ALX4_HUMAN	ALX homeobox 4	274					anterior/posterior pattern specification (GO:0009952)|digestive tract development (GO:0048565)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal system morphogenesis (GO:0048704)|hair follicle development (GO:0001942)|muscle organ development (GO:0007517)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of apoptotic process (GO:0042981)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R274H(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						CTGCCCAAAACGCTCCCGCTT	0.597																																																	1	Substitution - Missense(1)	lung(1)						ENSG00000052850	C	HIS/ARG	0,4406		0,0,2203	179.0	146.0	157.0		821	4.9	1.0	11		157	1,8597	1.2+/-3.3	0,1,4298	no	missense	ALX4	NM_021926.3	29	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	274/412	44289129	1,13003	2203	4299	6502	ALX4	SO:0001583	missense	0			-	HGNC	AF294629	CCDS31468.1	11p11.2	2011-06-20	2008-11-04		ENSG00000052850	ENSG00000052850		"""Homeoboxes / PRD class"""	450	protein-coding gene	gene with protein product		605420	"""parietal foramina 2"", ""aristaless-like homeobox 4"""	PFM2		11017806, 8644736	Standard	NM_021926		Approved	FPP, PFM, KIAA1788	uc001myb.3	Q9H161	OTTHUMG00000166557	ENST00000329255.3:c.821G>A	11.37:g.44289129C>T	ENSP00000332744:p.Arg274His	Somatic	0	60	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	59	9	86.76	Q96JN7|Q9H198|Q9HAY9	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_OAR_dom,pfscan_Homeobox_dom	p.R274H	ENST00000329255.3	37	c.821	CCDS31468.1	11	.	.	.	.	.	.	.	.	.	.	C	36	5.646267	0.96704	0.0	1.16E-4	ENSG00000052850	ENST00000329255	D	0.92965	-3.14	4.88	4.88	0.63580	Homeobox (1);Homeodomain-like (1);	0.116529	0.64402	D	0.000018	D	0.95853	0.8650	M	0.75777	2.31	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.96120	0.9084	10	0.87932	D	0	.	18.578	0.91162	0.0:1.0:0.0:0.0	.	274	Q9H161	ALX4_HUMAN	H	274	ENSP00000332744:R274H	ENSP00000332744:R274H	R	-	2	0	ALX4	44245705	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	5.817000	0.69229	2.700000	0.92200	0.462000	0.41574	CGT	-	superfamily_Homeodomain-like,smart_Homeobox_dom		0.597	ALX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALX4	protein_coding	OTTHUMT00000390399.1	C		-		44289129	-1	no_errors	ENST00000329255	ensembl	human	known	74_37	missense	SNP	1.000	T
TUBAL3	79861	genome.wustl.edu	37	10	5435603	5435603	+	Silent	SNP	G	G	A	rs367579573		TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr10:5435603G>A	ENST00000380419.3	-	4	1255	c.1218C>T	c.(1216-1218)taC>taT	p.Y406Y	TUBAL3_ENST00000479328.1_Silent_p.Y366Y	NM_024803.2	NP_079079.1	A6NHL2	TBAL3_HUMAN	tubulin, alpha-like 3	406					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3)	25						CTCTCTTGGCGTACATGAGGT	0.582													g|||	1	0.000199681	0.0008	0.0	5008	,	,		20863	0.0		0.0	False		,,,				2504	0.0																0								ENSG00000178462	G	,	0,4406		0,0,2203	90.0	78.0	82.0		1098,1218	-6.3	0.9	10		82	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	TUBAL3	NM_001171864.1,NM_024803.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	366/407,406/447	5435603	1,13005	2203	4300	6503	TUBAL3	SO:0001819	synonymous_variant	0			-	HGNC	AK025318	CCDS7066.2, CCDS53491.1	10p15.1	2007-03-15			ENSG00000178462	ENSG00000178462		"""Tubulins"""	23534	protein-coding gene	gene with protein product							Standard	NM_024803		Approved	FLJ21665	uc001ihy.3	A6NHL2	OTTHUMG00000017595	ENST00000380419.3:c.1218C>T	10.37:g.5435603G>A		Somatic	0	34	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	16	23.81	B4DKL2|Q4QQJ5|Q9H6Z0	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin	p.Y406	ENST00000380419.3	37	c.1218	CCDS7066.2	10																																																																																			-	superfamily_Tub_FtsZ_C,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin		0.582	TUBAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBAL3	protein_coding	OTTHUMT00000046548.2	G	NM_024803	-		5435603	-1	no_errors	ENST00000380419	ensembl	human	known	74_37	silent	SNP	0.975	A
ALPP	250	genome.wustl.edu	37	2	233244409	233244409	+	Intron	SNP	C	C	T	rs376033390		TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr2:233244409C>T	ENST00000392027.2	+	4	753				AC068134.8_ENST00000441266.1_RNA|AC068134.8_ENST00000439072.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental						dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		TGAGCTGGGGCCCGCTGCTGG	0.592																																																	0								ENSG00000224516	C		2,4404		0,2,2201	43.0	42.0	42.0			-2.6	0.0	2		42	0,8600		0,0,4300	no	intron	ALPP	NM_001632.3		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154			233244409	2,13004	2203	4300	6503	AC068134.8	SO:0001627	intron_variant	0			-	Clone_based_vega_gene	M14169	CCDS2490.1	2q37.1	2010-06-24	2010-06-24		ENSG00000163283	ENSG00000163283	3.1.3.1		439	protein-coding gene	gene with protein product	"""Regan isozyme"""	171800	"""alkaline phosphatase, placental (Regan isozyme)"""			3001717, 3461452	Standard	XM_005246439		Approved		uc002vsq.3	P05187	OTTHUMG00000133255	ENST00000392027.2:c.484+12C>T	2.37:g.233244409C>T		Somatic	0	26	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	44	2	95.65	P05188|P06861|Q53S78|Q96DB7	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000392027.2	37	NULL	CCDS2490.1	2																																																																																			-	-		0.592	ALPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000224516	protein_coding	OTTHUMT00000257032.3	C	NM_001632	-		233244409	-1	no_errors	ENST00000441266	ensembl	human	known	74_37	rna	SNP	0.000	T
ZNF419	79744	genome.wustl.edu	37	19	58005000	58005000	+	Missense_Mutation	SNP	A	A	G			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr19:58005000A>G	ENST00000221735.7	+	5	1261	c.1075A>G	c.(1075-1077)Atc>Gtc	p.I359V	ZNF419_ENST00000347466.6_Missense_Mutation_p.I327V|ZNF419_ENST00000426954.2_Missense_Mutation_p.I347V|ZNF419_ENST00000354197.4_Missense_Mutation_p.I347V|ZNF419_ENST00000415379.2_Missense_Mutation_p.I313V|ZNF419_ENST00000424930.2_Missense_Mutation_p.I360V|ZNF419_ENST00000442920.2_Missense_Mutation_p.I346V|AC003005.4_ENST00000601674.1_Intron			Q96HQ0	ZN419_HUMAN	zinc finger protein 419	359					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)		GTCCAACCTTATCAAACATTG	0.413																																																	0								ENSG00000105136						84.0	88.0	87.0					19																	58005000		2202	4299	6501	ZNF419	SO:0001583	missense	0			-	HGNC	AK026886	CCDS42637.1, CCDS46211.1, CCDS54325.1, CCDS54326.1, CCDS54327.1, CCDS54328.1	19q13.43	2013-01-08	2006-12-15	2006-12-15	ENSG00000105136	ENSG00000105136		"""Zinc fingers, C2H2-type"", ""-"""	20648	protein-coding gene	gene with protein product			"""zinc finger protein 419A"""	ZNF419A			Standard	NM_001098492		Approved		uc010ety.1	Q96HQ0	OTTHUMG00000037073	ENST00000221735.7:c.1075A>G	19.37:g.58005000A>G	ENSP00000221735:p.Ile359Val	Somatic	0	122	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	7	81.58	B4DXU7|B4E348|B7ZA41|E9PCP4|E9PED0|E9PET3|E9PFX9|Q9H5P0	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	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.I360V	ENST00000221735.7	37	c.1078	CCDS54326.1	19	.	.	.	.	.	.	.	.	.	.	A	14.50	2.552768	0.45487	.	.	ENSG00000105136	ENST00000284020;ENST00000424930;ENST00000426954;ENST00000354197;ENST00000442920;ENST00000517598;ENST00000347466;ENST00000415379;ENST00000221735	T;T;T;T;T;T;T	0.07216	3.21;3.21;3.21;3.21;3.21;3.21;3.21	2.36	1.28	0.21552	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03053	0.0090	N	0.05306	-0.075	0.09310	N	1	B;B;B;B;P;B;P	0.38280	0.298;0.232;0.437;0.232;0.625;0.383;0.625	B;B;B;B;B;B;B	0.33799	0.08;0.084;0.17;0.122;0.124;0.106;0.124	T	0.40979	-0.9534	9	0.23891	T	0.37	.	3.8104	0.08795	0.6433:0.2228:0.1338:0.0	.	313;313;346;347;360;327;359	E9PFX9;B4DXU7;E9PCP4;E9PET3;E9PED0;Q96HQ0-2;Q96HQ0	.;.;.;.;.;.;ZN419_HUMAN	V	334;360;347;347;346;360;327;313;359	ENSP00000388864:I360V;ENSP00000390916:I347V;ENSP00000346136:I347V;ENSP00000414709:I346V;ENSP00000299860:I327V;ENSP00000392129:I313V;ENSP00000221735:I359V	ENSP00000221735:I359V	I	+	1	0	ZNF419	62696812	0.000000	0.05858	0.001000	0.08648	0.524000	0.34500	-0.219000	0.09228	0.136000	0.18733	0.172000	0.16884	ATC	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.413	ZNF419-006	KNOWN	NAGNAG_splice_site|non_canonical_polymorphism|basic|appris_candidate|CCDS	protein_coding	ZNF419	protein_coding	OTTHUMT00000378506.1	A	NM_024691	-		58005000	+1	no_errors	ENST00000424930	ensembl	human	known	74_37	missense	SNP	0.002	G
PMS2	5395	genome.wustl.edu	37	7	6029584	6029584	+	Missense_Mutation	SNP	A	A	T			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr7:6029584A>T	ENST00000265849.7	-	10	1096	c.991T>A	c.(991-993)Tgc>Agc	p.C331S	PMS2_ENST00000382321.4_Intron|PMS2_ENST00000469652.1_Intron|PMS2_ENST00000406569.3_Missense_Mutation_p.C331S|PMS2_ENST00000441476.2_Missense_Mutation_p.C225S	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	331					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|single base insertion or deletion binding (GO:0032138)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		ATATCAACGCATTCTAAGGCA	0.303			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																														yes	Rec		"""Hereditary non-polyposis colorectal cancer, Turcot syndrome"""	7	7p22	5395	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)		E	0								ENSG00000122512						64.0	60.0	61.0					7																	6029584		2201	4300	6501	PMS2	SO:0001583	missense	0	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	-	HGNC		CCDS5343.1	7p22.1	2014-09-17	2001-11-28		ENSG00000122512	ENSG00000122512			9122	protein-coding gene	gene with protein product		600259	"""postmeiotic segregation increased (S. cerevisiae) 2"""	PMSL2		8072530	Standard	NM_000535		Approved	H_DJ0042M02.9, HNPCC4	uc003spl.3	P54278	OTTHUMG00000023135	ENST00000265849.7:c.991T>A	7.37:g.6029584A>T	ENSP00000265849:p.Cys331Ser	Somatic	0	186	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	159	13.59	B2R610|Q52LH6|Q5FBW9|Q5FBX1|Q5FBX2|Q75MR2	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_MutL_C,pfam_DNA_mismatch_repair_C,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_MutL_C,tigrfam_DNA_mismatch_repair_N	p.C331S	ENST00000265849.7	37	c.991	CCDS5343.1	7	.	.	.	.	.	.	.	.	.	.	a	17.80	3.478150	0.63849	.	.	ENSG00000122512	ENST00000265849;ENST00000382322;ENST00000441476;ENST00000406569	D;D;D	0.83250	-1.7;-1.7;-1.7	5.64	5.64	0.86602	Ribosomal protein S5 domain 2-type fold (1);DNA mismatch repair protein, N-terminal (1);Ribosomal protein S5 domain 2-type fold, subgroup (1);DNA mismatch repair protein, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.82135	0.4971	N	0.16130	0.375	0.80722	D	1	B;P;D	0.89917	0.062;0.502;1.0	B;B;D	0.83275	0.01;0.18;0.996	T	0.77768	-0.2464	10	0.09084	T	0.74	-10.6577	15.9006	0.79373	1.0:0.0:0.0:0.0	.	331;331;225	P54278-3;P54278;C9J167	.;PMS2_HUMAN;.	S	331;284;225;331	ENSP00000265849:C331S;ENSP00000392843:C225S;ENSP00000384308:C331S	ENSP00000265849:C331S	C	-	1	0	PMS2	5996110	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	8.619000	0.90938	2.158000	0.67659	0.477000	0.44152	TGC	-	pfam_DNA_mismatch_repair_C,superfamily_Ribosomal_S5_D2-typ_fold,tigrfam_DNA_mismatch_repair_N		0.303	PMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PMS2	protein_coding	OTTHUMT00000207353.3	A	NM_000535	-		6029584	-1	no_errors	ENST00000265849	ensembl	human	known	74_37	missense	SNP	1.000	T
CFTR	1080	genome.wustl.edu	37	7	117149156	117149156	+	Missense_Mutation	SNP	T	T	C			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr7:117149156T>C	ENST00000003084.6	+	3	365	c.233T>C	c.(232-234)tTc>tCc	p.F78S	CFTR_ENST00000454343.1_Missense_Mutation_p.F78S	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	78					cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	CGATGTTTTTTCTGGAGATTT	0.323									Cystic Fibrosis																																								0			GRCh37	CD983595|CI942008	CFTR	D|I		ENSG00000001626						136.0	146.0	142.0					7																	117149156		2203	4300	6503	CFTR	SO:0001583	missense	0	Familial Cancer Database	CF	-	HGNC	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"""Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators"", ""ATP binding cassette transporters / subfamily C"""	1884	protein-coding gene	gene with protein product	"""ATP-binding cassette sub-family C, member 7"""	602421	"""cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"""	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.233T>C	7.37:g.117149156T>C	ENSP00000003084:p.Phe78Ser	Somatic	0	69	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	89	14.42	Q20BG8|Q20BH2|Q2I0A1|Q2I102	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_CysFib_conduc_TM,tigrfam_cAMP_cl_channel	p.F78S	ENST00000003084.6	37	c.233	CCDS5773.1	7	.	.	.	.	.	.	.	.	.	.	T	19.10	3.761135	0.69763	.	.	ENSG00000001626	ENST00000003084;ENST00000454343;ENST00000426809	D;D;D	0.91521	-2.86;-2.86;-2.86	5.68	5.68	0.88126	ABC transporter, transmembrane domain, type 1 (1);	0.243895	0.49916	D	0.000131	D	0.86590	0.5969	L	0.31526	0.94	0.39073	D	0.960757	B	0.30406	0.278	B	0.36418	0.224	D	0.84424	0.0573	10	0.22109	T	0.4	-8.4525	15.9174	0.79531	0.0:0.0:0.0:1.0	.	78	P13569	CFTR_HUMAN	S	78	ENSP00000003084:F78S;ENSP00000403677:F78S;ENSP00000389119:F78S	ENSP00000003084:F78S	F	+	2	0	CFTR	116936392	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.588000	0.60999	2.165000	0.68154	0.482000	0.46254	TTC	-	superfamily_ABC1_TM_dom,tigrfam_cAMP_cl_channel		0.323	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFTR	protein_coding	OTTHUMT00000059397.3	T	NM_000492	-		117149156	+1	no_errors	ENST00000003084	ensembl	human	known	74_37	missense	SNP	1.000	C
GPR37L1	9283	genome.wustl.edu	37	1	202097525	202097527	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	CTG	CTG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr1:202097525_202097527delCTG	ENST00000367282.5	+	2	1393_1395	c.1287_1289delCTG	c.(1285-1290)gactgc>gac	p.C436del		NM_004767.3	NP_004758.3	O60883	ETBR2_HUMAN	G protein-coupled receptor 37 like 1	436	Cys-rich.				negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	18						CCTTCCTGGActgctgctgctgc	0.626																																																	0								ENSG00000170075			2,128,4136		0,0,2,9,110,2012						3.1	1.0			46	5,240,8007		0,0,5,10,220,3891	no	codingComplex	GPR37L1	NM_004767.3		0,0,7,19,330,5903	A1A1,A1A2,A1R,A2A2,A2R,RR		2.969,3.0474,2.9957				7,368,12143				GPR37L1	SO:0001651	inframe_deletion	0				HGNC	AJ310210	CCDS1420.1	1q32	2012-08-21	2006-02-15		ENSG00000170075	ENSG00000170075		"""GPCR / Class A : Orphans"""	14923	protein-coding gene	gene with protein product						9539149	Standard	NM_004767		Approved	ETBR-LP-2	uc001gxj.3	O60883	OTTHUMG00000035924	ENST00000367282.5:c.1287_1289delCTG	1.37:g.202097534_202097536delCTG	ENSP00000356251:p.Cys436del	Somatic	0	31	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	18	14.29	B2R7M9|Q5SXP7|Q86VP7	In_Frame_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR37_orph,prints_GPCR_Rhodpsn	p.C433in_frame_del	ENST00000367282.5	37	c.1287_1289	CCDS1420.1	1																																																																																			-	NULL		0.626	GPR37L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR37L1	protein_coding	OTTHUMT00000087496.2	CTG	NM_004767			202097527	+1	no_errors	ENST00000367282	ensembl	human	known	74_37	in_frame_del	DEL	0.998:0.998:0.996	-
LRRC41	10489	genome.wustl.edu	37	1	46763171	46763171	+	Intron	SNP	G	G	T			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr1:46763171G>T	ENST00000343304.6	-	3	643				LRRC41_ENST00000472710.1_Intron	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41						protein ubiquitination (GO:0016567)	membrane (GO:0016020)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					GCTTGTGTTTGTGTGCTATTC	0.448																																																	0								ENSG00000132128						67.0	58.0	61.0					1																	46763171		692	1591	2283	LRRC41	SO:0001627	intron_variant	0			-	HGNC	AK024051	CCDS533.1	1p34.1	2008-02-05			ENSG00000132128	ENSG00000132128			16917	protein-coding gene	gene with protein product						11384984	Standard	XM_005270376		Approved	MUF1	uc001cpn.3	Q15345	OTTHUMG00000007810	ENST00000343304.6:c.357+63C>A	1.37:g.46763171G>T		Somatic	0	38	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	12	20.00	A8K5G8|Q3MJ96|Q5TDF5|Q71RA8|Q9BSM0	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000343304.6	37	NULL	CCDS533.1	1																																																																																			-	-		0.448	LRRC41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC41	protein_coding	OTTHUMT00000021438.1	G	NM_006369	-		46763171	-1	no_errors	ENST00000469150	ensembl	human	known	74_37	rna	SNP	0.038	T
ARHGAP22	58504	genome.wustl.edu	37	10	49654494	49654494	+	Missense_Mutation	SNP	C	C	G			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr10:49654494C>G	ENST00000249601.4	-	10	2333	c.2037G>C	c.(2035-2037)gaG>gaC	p.E679D	ARHGAP22_ENST00000477708.2_Missense_Mutation_p.E512D|ARHGAP22_ENST00000417247.2_Missense_Mutation_p.E589D|ARHGAP22_ENST00000374170.1_Missense_Mutation_p.E520D|ARHGAP22_ENST00000374172.1_Missense_Mutation_p.E570D|ARHGAP22_ENST00000417912.2_Missense_Mutation_p.E695D|ARHGAP22_ENST00000435790.2_Missense_Mutation_p.E685D	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 22	679					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TCGAAAAAAACTCCTCCATTT	0.517																																																	0								ENSG00000128805						148.0	139.0	142.0					10																	49654494		2203	4300	6503	ARHGAP22	SO:0001583	missense	0			-	HGNC	AY324801	CCDS7227.1, CCDS58079.1, CCDS58080.1, CCDS58081.1	10q11.23	2013-01-10			ENSG00000128805	ENSG00000128805		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	30320	protein-coding gene	gene with protein product		610585				8619474	Standard	NM_021226		Approved	RhoGAP2	uc010qgm.3	Q7Z5H3	OTTHUMG00000018176	ENST00000249601.4:c.2037G>C	10.37:g.49654494C>G	ENSP00000249601:p.Glu679Asp	Somatic	0	70	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	19	26.92	A0AVP7|A5YM75|B4DED8|B9EGA0|C9JDM2|O00152|Q6ZSB0	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom	p.E695D	ENST00000249601.4	37	c.2085	CCDS7227.1	10	.	.	.	.	.	.	.	.	.	.	C	11.57	1.677614	0.29783	.	.	ENSG00000128805	ENST00000249601;ENST00000374172;ENST00000374170;ENST00000477708;ENST00000417247;ENST00000435790;ENST00000417912	T;T;T;T;T;T;T	0.25912	2.84;2.53;1.77;2.17;2.52;2.81;2.85	4.16	1.06	0.20224	.	0.120329	0.56097	D	0.000030	T	0.22322	0.0538	M	0.64630	1.985	0.42331	D	0.992297	B;B;B;B;B;B	0.32693	0.058;0.058;0.037;0.058;0.096;0.38	B;B;B;B;B;B	0.34452	0.017;0.017;0.024;0.017;0.038;0.183	T	0.04537	-1.0944	10	0.48119	T	0.1	.	4.9271	0.13898	0.0:0.5812:0.1685:0.2503	.	685;679;695;679;589;512	B4DED8;A6NDI7;Q7Z5H3-2;Q7Z5H3;Q7Z5H3-3;D6R9V6	.;.;.;RHG22_HUMAN;.;.	D	679;570;520;512;589;685;695	ENSP00000249601:E679D;ENSP00000363287:E570D;ENSP00000363285:E520D;ENSP00000422868:E512D;ENSP00000410054:E589D;ENSP00000416701:E685D;ENSP00000412461:E695D	ENSP00000249601:E679D	E	-	3	2	ARHGAP22	49324500	0.265000	0.24102	0.994000	0.49952	0.645000	0.38454	-0.391000	0.07323	0.693000	0.31634	0.491000	0.48974	GAG	-	NULL		0.517	ARHGAP22-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ARHGAP22	protein_coding	OTTHUMT00000358767.1	C	NM_021226	-		49654494	-1	no_errors	ENST00000417912	ensembl	human	known	74_37	missense	SNP	0.997	G
DLK1	8788	genome.wustl.edu	37	14	101200664	101200664	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr14:101200664C>T	ENST00000341267.4	+	5	825	c.583C>T	c.(583-585)Cgg>Tgg	p.R195W	DLK1_ENST00000331224.6_Missense_Mutation_p.R195W	NM_003836.5	NP_003827	P80370	DLK1_HUMAN	delta-like 1 homolog (Drosophila)	195	EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|embryonic skeletal system development (GO:0048706)|multicellular organismal development (GO:0007275)|negative regulation of Notch signaling pathway (GO:0045746)|Notch signaling pathway (GO:0007219)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29		Melanoma(154;0.155)				CTTCCGCTGCCGGTGCCCAGC	0.657																																																	0								ENSG00000185559						39.0	46.0	43.0					14																	101200664		2202	4299	6501	DLK1	SO:0001583	missense	0			-	HGNC	U15979	CCDS9963.1	14q32	2011-12-05	2001-12-03			ENSG00000185559			2907	protein-coding gene	gene with protein product		176290	"""delta-like homolog (Drosophila)"""			8095043, 7925474	Standard	NM_003836		Approved	FA1, pG2, Pref-1, ZOG, Delta1	uc001yhs.4	P80370		ENST00000341267.4:c.583C>T	14.37:g.101200664C>T	ENSP00000340292:p.Arg195Trp	Somatic	0	36	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	11	60.71	P15803|Q96DW5	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_EG-like_dom,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.R195W	ENST00000341267.4	37	c.583	CCDS9963.1	14	.	.	.	.	.	.	.	.	.	.	C	17.55	3.418360	0.62622	.	.	ENSG00000185559	ENST00000341267;ENST00000331224	T;T	0.66638	-0.22;-0.22	4.58	3.66	0.41972	EGF (1);Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	0.560748	0.17101	N	0.187016	T	0.70675	0.3251	L	0.39514	1.22	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.65940	-0.6046	10	0.37606	T	0.19	.	6.7375	0.23417	0.1789:0.7207:0.0:0.1004	.	195;195	P80370-2;P80370	.;DLK1_HUMAN	W	195	ENSP00000340292:R195W;ENSP00000331081:R195W	ENSP00000331081:R195W	R	+	1	2	DLK1	100270417	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.460000	0.45031	0.867000	0.35654	0.491000	0.48974	CGG	-	pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom		0.657	DLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLK1	protein_coding	OTTHUMT00000414389.1	C		-		101200664	+1	no_errors	ENST00000341267	ensembl	human	known	74_37	missense	SNP	0.986	T
YAF2	10138	genome.wustl.edu	37	12	42555465	42555465	+	Silent	SNP	T	T	C			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr12:42555465T>C	ENST00000534854.2	-	3	322	c.255A>G	c.(253-255)gaA>gaG	p.E85E	YAF2_ENST00000327791.4_Silent_p.E61E|YAF2_ENST00000380788.3_Silent_p.E76E|YAF2_ENST00000380790.4_Silent_p.E43E|YAF2_ENST00000442791.3_Silent_p.E109E	NM_005748.4	NP_005739.2	Q8IY57	YAF2_HUMAN	YY1 associated factor 2	85					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)	8	all_cancers(12;0.000425)	Lung NSC(34;0.0402)|all_lung(34;0.057)		GBM - Glioblastoma multiforme(48;0.0514)		tttcacttttttctttttcta	0.348																																																	0								ENSG00000015153						100.0	96.0	98.0					12																	42555465		2203	4300	6503	YAF2	SO:0001819	synonymous_variant	0			-	HGNC	U72209	CCDS31775.1, CCDS53778.1, CCDS53779.1, CCDS53780.1	12q12	2014-09-04			ENSG00000015153	ENSG00000015153			17363	protein-coding gene	gene with protein product		607534				9016636	Standard	NM_001190977		Approved		uc001rmw.3	Q8IY57	OTTHUMG00000169380	ENST00000534854.2:c.255A>G	12.37:g.42555465T>C		Somatic	0	79	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	67	14.10	A8K5P0|B4DFU3|G3V465|Q99710	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Znf_RanBP2,smart_Znf_RanBP2,pfscan_Znf_RanBP2	p.E109	ENST00000534854.2	37	c.327	CCDS31775.1	12																																																																																			-	NULL		0.348	YAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YAF2	protein_coding	OTTHUMT00000403781.1	T		-		42555465	-1	no_errors	ENST00000442791	ensembl	human	known	74_37	silent	SNP	1.000	C
TSIX	9383	genome.wustl.edu	37	X	73042432	73042432	+	lincRNA	DEL	T	T	-			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chrX:73042432delT	ENST00000604411.1	+	0	30393				XIST_ENST00000429829.1_lincRNA	NR_003255.2				TSIX transcript, XIST antisense RNA																		TTCGTCATGATTTTTTTTGTT	0.289																																																	0								ENSG00000229807						4.0	4.0	4.0					X																	73042432		801	1860	2661	XIST			0				HGNC			Xq13.2	2012-10-19	2012-08-15			ENSG00000270641		"""Long non-coding RNAs"", ""-"""	12377	non-coding RNA	RNA, long non-coding	"""XIST antisense RNA (non-protein coding)"", ""long intergenic non-protein coding RNA 13"""	300181	"""X (inactive)-specific transcript, antisense"", ""TSIX transcript, XIST antisense RNA (non-protein coding)"""			10192391	Standard	NR_003255		Approved	NCRNA00013, XIST-AS1, LINC00013	uc004ebn.2				X.37:g.73042432delT		Somatic	0	27	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	29	9.38		RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000604411.1	37	NULL		X																																																																																			-	-		0.289	TSIX-001	KNOWN	basic	lincRNA	XIST	lincRNA	OTTHUMT00000469120.1	T	NR_003255			73042432	-1	no_errors	ENST00000429829	ensembl	human	known	74_37	rna	DEL	0.009	-
ACACA	31	genome.wustl.edu	37	17	35615186	35615186	+	Missense_Mutation	SNP	C	C	A			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr17:35615186C>A	ENST00000394406.2	-	13	1689	c.1499G>T	c.(1498-1500)tGt>tTt	p.C500F	ACACA_ENST00000353139.5_Missense_Mutation_p.C537F|ACACA_ENST00000335166.5_Missense_Mutation_p.C422F|ACACA_ENST00000360679.3_Missense_Mutation_p.C442F	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	500	Biotin carboxylation.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	GCCCCTTGGACAAGGAACGTG	0.413																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)												0								ENSG00000132142						90.0	86.0	88.0					17																	35615186		2203	4300	6503	ACACA	SO:0001583	missense	0			-	HGNC	U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.1499G>T	17.37:g.35615186C>A	ENSP00000377928:p.Cys500Phe	Somatic	0	112	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	55	10	84.62	B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_carboxylate-amine,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl	p.C537F	ENST00000394406.2	37	c.1610	CCDS11317.1	17	.	.	.	.	.	.	.	.	.	.	C	15.09	2.731160	0.48939	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166	D;D;D;D	0.94966	-3.57;-3.57;-3.57;-3.57	5.93	5.93	0.95920	ATP-grasp fold, subdomain 2 (1);Biotin carboxylation domain (1);	0.139271	0.64402	D	0.000003	D	0.90157	0.6924	N	0.14661	0.345	0.58432	D	0.999992	B;B;B	0.19331	0.016;0.021;0.035	B;B;B	0.25614	0.062;0.004;0.013	D	0.84934	0.0861	10	0.42905	T	0.14	-9.0713	19.3421	0.94347	0.0:1.0:0.0:0.0	.	537;500;442	Q13085-4;Q13085;Q13085-2	.;ACACA_HUMAN;.	F	537;442;500;524;422	ENSP00000344789:C537F;ENSP00000353898:C442F;ENSP00000377928:C500F;ENSP00000335323:C422F	ENSP00000335323:C422F	C	-	2	0	ACACA	32689299	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	2.366000	0.44204	2.826000	0.97356	0.655000	0.94253	TGT	-	pfscan_Biotin_carboxylation_dom		0.413	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	ACACA	protein_coding	OTTHUMT00000256696.1	C	NM_198836	-		35615186	-1	no_errors	ENST00000353139	ensembl	human	known	74_37	missense	SNP	1.000	A
FAM181A	90050	genome.wustl.edu	37	14	94394800	94394800	+	Missense_Mutation	SNP	C	C	T	rs142299390	byFrequency	TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr14:94394800C>T	ENST00000267594.5	+	3	662	c.355C>T	c.(355-357)Cgg>Tgg	p.R119W	FAM181A-AS1_ENST00000554742.1_RNA|FAM181A_ENST00000557000.2_Missense_Mutation_p.R57W|FAM181A_ENST00000556222.1_Missense_Mutation_p.R57W|FAM181A_ENST00000557719.1_Missense_Mutation_p.R57W	NM_001207073.1|NM_001207074.1|NM_138344.4	NP_001194002.1|NP_001194003.1|NP_612353.3	Q8N9Y4	F181A_HUMAN	family with sequence similarity 181, member A	119										cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2)	18						CCGGCTCCCGCGGGGCCTTCC	0.652																																																	0								ENSG00000140067	C	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	26.0	28.0	27.0		169,169,169,169,355	0.9	0.9	14	dbSNP_134	27	8,8588	6.4+/-24.3	0,8,4290	yes	missense,missense,missense,missense,missense	FAM181A	NM_001207071.1,NM_001207072.1,NM_001207073.1,NM_001207074.1,NM_138344.4	101,101,101,101,101	0,8,6493	TT,TC,CC		0.0931,0.0,0.0615	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	57/293,57/293,57/293,57/293,119/355	94394800	8,12994	2203	4298	6501	FAM181A	SO:0001583	missense	0			-	HGNC	BC009073	CCDS9914.1, CCDS55939.1	14q32.12	2011-11-30	2008-07-22	2008-07-22	ENSG00000140067	ENSG00000140067			20491	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 152"""	C14orf152			Standard	NM_138344		Approved		uc021saz.1	Q8N9Y4	OTTHUMG00000171297	ENST00000267594.5:c.355C>T	14.37:g.94394800C>T	ENSP00000267594:p.Arg119Trp	Somatic	0	80	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	30	34.78	B2RD39|Q96GY1	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.R119W	ENST00000267594.5	37	c.355	CCDS9914.1	14	.	.	.	.	.	.	.	.	.	.	C	16.14	3.039266	0.55003	0.0	9.31E-4	ENSG00000140067	ENST00000557719;ENST00000267594;ENST00000556222;ENST00000554404;ENST00000557000	T;T;T;T	0.37915	1.17;1.17;1.17;1.17	4.74	0.923	0.19413	.	0.000000	0.56097	D	0.000030	T	0.52693	0.1750	L	0.53249	1.67	0.44825	D	0.997836	D	0.89917	1.0	D	0.97110	1.0	T	0.55829	-0.8079	10	0.66056	D	0.02	-17.3947	14.5855	0.68320	0.4901:0.5099:0.0:0.0	.	119	Q8N9Y4	F181A_HUMAN	W	57;119;57;57;108	ENSP00000451802:R57W;ENSP00000267594:R119W;ENSP00000451678:R57W;ENSP00000452393:R57W	ENSP00000267594:R119W	R	+	1	2	FAM181A	93464553	0.072000	0.21174	0.941000	0.38009	0.821000	0.46438	0.567000	0.23608	0.252000	0.21531	-0.314000	0.08810	CGG	-	NULL		0.652	FAM181A-001	KNOWN	basic|CCDS	protein_coding	FAM181A	protein_coding	OTTHUMT00000412840.1	C	NM_138344	rs142299390		94394800	+1	no_errors	ENST00000267594	ensembl	human	known	74_37	missense	SNP	0.733	T
ZC3H11A	9877	genome.wustl.edu	37	1	203809457	203809457	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr1:203809457G>T	ENST00000545588.1	+	11	4824	c.997G>T	c.(997-999)Gag>Tag	p.E333*	ZC3H11A_ENST00000332127.4_Nonsense_Mutation_p.E333*|ZC3H11A_ENST00000367214.1_Nonsense_Mutation_p.E333*|ZC3H11A_ENST00000367210.1_Nonsense_Mutation_p.E333*|ZC3H11A_ENST00000367212.3_Nonsense_Mutation_p.E333*	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	333					poly(A)+ mRNA export from nucleus (GO:0016973)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GTCTCTTAAGGAGCGATTAGG	0.363																																																	0								ENSG00000058673						116.0	118.0	117.0					1																	203809457		2203	4300	6503	ZC3H11A	SO:0001587	stop_gained	0			-	HGNC		CCDS30978.1	1q32.1	2012-07-05	2005-06-02	2005-06-02	ENSG00000058673	ENSG00000058673		"""Zinc fingers, CCCH-type domain containing"""	29093	protein-coding gene	gene with protein product		613513	"""zinc finger CCCH-type domain containing 11A"""	ZC3HDC11A		9734811	Standard	NM_014827		Approved	KIAA0663	uc001hac.3	O75152	OTTHUMG00000035909	ENST00000545588.1:c.997G>T	1.37:g.203809457G>T	ENSP00000438527:p.Glu333*	Somatic	0	48	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	23	14.81	Q6AHY4|Q6AHY9|Q6AW79|Q6AWA1|Q6PJK4|Q86XZ7	Nonsense_Mutation	SNP	NA	NA	NA	NA	NA	NA	smart_Znf_CCCH	p.E333*	ENST00000545588.1	37	c.997	CCDS30978.1	1	.	.	.	.	.	.	.	.	.	.	G	42	9.540770	0.99199	.	.	ENSG00000058673	ENST00000453771;ENST00000367214;ENST00000537080;ENST00000367212;ENST00000332127;ENST00000545588;ENST00000367210	.	.	.	5.35	5.35	0.76521	.	0.064498	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	-14.7879	18.1786	0.89769	0.0:0.0:1.0:0.0	.	.	.	.	X	333;333;279;333;333;333;333	.	ENSP00000333253:E333X	E	+	1	0	ZC3H11A	202076080	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.265000	0.72534	2.657000	0.90304	0.650000	0.86243	GAG	-	NULL		0.363	ZC3H11A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H11A	protein_coding	OTTHUMT00000087471.3	G	NM_014827	-		203809457	+1	no_errors	ENST00000332127	ensembl	human	known	74_37	nonsense	SNP	1.000	T
OR10G2	26534	genome.wustl.edu	37	14	22102287	22102287	+	Missense_Mutation	SNP	C	C	A			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr14:22102287C>A	ENST00000542433.1	-	1	809	c.712G>T	c.(712-714)Ggg>Tgg	p.G238W		NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G, member 2	238						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		CGGCGCCTCCCATCAGCGGTG	0.537																																																	0								ENSG00000255582						36.0	38.0	38.0					14																	22102287		2188	4262	6450	OR10G2	SO:0001583	missense	0			-	HGNC		CCDS32047.1	14q11.2	2013-09-24			ENSG00000255582	ENSG00000255582		"""GPCR / Class A : Olfactory receptors"""	8170	protein-coding gene	gene with protein product						8188290	Standard	NM_001005466		Approved		uc010tmc.2	Q8NGC3	OTTHUMG00000168890	ENST00000542433.1:c.712G>T	14.37:g.22102287C>A	ENSP00000445383:p.Gly238Trp	Somatic	0	62	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	44	18.52	B2RPD0	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G238W	ENST00000542433.1	37	c.712	CCDS32047.1	14	.	.	.	.	.	.	.	.	.	.	C	13.20	2.167403	0.38315	.	.	ENSG00000255582	ENST00000542433	T	0.00304	8.19	3.92	3.92	0.45320	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47852	D	0.000211	T	0.01029	0.0034	H	0.95328	3.655	0.37270	D	0.907353	D	0.89917	1.0	D	0.97110	1.0	T	0.48293	-0.9048	10	0.87932	D	0	-9.0769	13.4661	0.61254	0.0:1.0:0.0:0.0	.	238	Q8NGC3	O10G2_HUMAN	W	238	ENSP00000445383:G238W	ENSP00000445383:G238W	G	-	1	0	OR10G2	21172127	0.030000	0.19436	0.999000	0.59377	0.315000	0.28087	1.955000	0.40372	2.027000	0.59764	0.557000	0.71058	GGG	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.537	OR10G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10G2	protein_coding	OTTHUMT00000401525.1	C		-		22102287	-1	no_errors	ENST00000542433	ensembl	human	known	74_37	missense	SNP	0.997	A
C19orf40	91442	genome.wustl.edu	37	19	33464449	33464449	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr19:33464449G>A	ENST00000588258.1	+	3	334	c.224G>A	c.(223-225)aGg>aAg	p.R75K	C19orf40_ENST00000590281.1_Missense_Mutation_p.R75K|C19orf40_ENST00000590179.1_Intron|CEP89_ENST00000590597.2_5'Flank|CEP89_ENST00000305768.5_5'Flank|CEP89_ENST00000591863.1_5'Flank|C19orf40_ENST00000589646.1_5'UTR	NM_152266.3	NP_689479.1	Q9BTP7	FAP24_HUMAN	chromosome 19 open reading frame 40	75					DNA repair (GO:0006281)	Fanconi anaemia nuclear complex (GO:0043240)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7	Esophageal squamous(110;0.137)					TACAGAAAGAGGCTTGTTCGG	0.502								Direct reversal of damage																																									0								ENSG00000131944						124.0	117.0	119.0					19																	33464449		2203	4300	6503	C19orf40	SO:0001583	missense	0			-	HGNC	AK128668	CCDS12426.1, CCDS74327.1	19q13.11	2011-11-24			ENSG00000131944	ENSG00000131944			28467	protein-coding gene	gene with protein product	"""Fanconi anemia-associated protein, 24kDa"""	610884				17289582	Standard	XM_005259393		Approved	FLJ46828, MGC32020, FAAP24	uc002nud.4	Q9BTP7		ENST00000588258.1:c.224G>A	19.37:g.33464449G>A	ENSP00000466121:p.Arg75Lys	Somatic	0	22	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	21	27.59	B3KY46|Q8WUJ7|Q96FX6	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	superfamily_RuvA_2-like	p.R75K	ENST00000588258.1	37	c.224	CCDS12426.1	19	.	.	.	.	.	.	.	.	.	.	G	9.670	1.146404	0.21288	.	.	ENSG00000131944	ENST00000254262	.	.	.	4.68	3.64	0.41730	.	0.086330	0.85682	N	0.000000	T	0.42810	0.1219	L	0.28344	0.845	0.35531	D	0.802217	B	0.15141	0.012	B	0.12156	0.007	T	0.45963	-0.9225	9	0.25106	T	0.35	-15.7144	12.8779	0.57999	0.0806:0.0:0.9194:0.0	.	75	Q9BTP7	FAP24_HUMAN	K	75	.	ENSP00000254262:R75K	R	+	2	0	C19orf40	38156289	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.263000	0.58853	1.102000	0.41551	0.585000	0.79938	AGG	-	NULL		0.502	C19orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C19orf40	protein_coding	OTTHUMT00000450823.2	G	NM_152266	-		33464449	+1	no_errors	ENST00000588258	ensembl	human	known	74_37	missense	SNP	1.000	A
FAM230C	26080	genome.wustl.edu	37	22	21663350	21663350	+	lincRNA	SNP	G	G	A			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr22:21663350G>A	ENST00000436681.1	-	0	820																											CGCCCTCGTTGGCGATGCCCT	0.736																																																	0								ENSG00000206142																																			KB-1183D5.13			0			-	Clone_based_vega_gene																													22.37:g.21663350G>A		Somatic	0	29	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	30	14.29		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000436681.1	37	NULL		22																																																																																			-	-		0.736	KB-1183D5.13-003	KNOWN	basic	lincRNA	FAM230C	lincRNA	OTTHUMT00000320109.1	G		-		21663350	-1	no_errors	ENST00000436681	ensembl	human	known	74_37	rna	SNP	0.255	A
SFTA3	253970	genome.wustl.edu	37	14	36982394	36982394	+	5'UTR	SNP	G	G	C	rs371392590		TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr14:36982394G>C	ENST00000518529.2	-	0	640				RP11-896J10.3_ENST00000521945.1_RNA|SFTA3_ENST00000518987.1_5'UTR	NM_001101341.1	NP_001094811.1	P0C7M3	SFTA3_HUMAN	surfactant associated 3											breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|skin(1)	7						AGAGACTCGCGCTACCTTTTG	0.537																																																	0								ENSG00000229415						62.0	61.0	61.0					14																	36982394		1898	4102	6000	SFTA3	SO:0001623	5_prime_UTR_variant	0			-	HGNC	AY102071	CCDS45097.1	14q13.3	2014-06-19	2008-08-26	2008-08-26	ENSG00000229415	ENSG00000229415			18387	protein-coding gene	gene with protein product			"""surfactant associated protein H"""	SFTPH			Standard	NM_001101341		Approved	NANCI	uc001wtr.3	P0C7M3	OTTHUMG00000170540	ENST00000518529.2:c.-36C>G	14.37:g.36982394G>C		Somatic	0	52	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	23	17.86		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000518529.2	37	NULL	CCDS45097.1	14																																																																																			-	-		0.537	SFTA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SFTA3	protein_coding	OTTHUMT00000376217.2	G	NM_001101341	-		36982394	-1	no_errors	ENST00000518987	ensembl	human	known	74_37	rna	SNP	0.173	C
CASR	846	genome.wustl.edu	37	3	122002947	122002947	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr3:122002947C>T	ENST00000490131.1	+	7	2518	c.2146C>T	c.(2146-2148)Cgc>Tgc	p.R716C	CASR_ENST00000498619.1_Missense_Mutation_p.R726C|AC068754.1_ENST00000408547.1_RNA|CASR_ENST00000296154.5_Missense_Mutation_p.R716C	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	716					anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CAGCTTCCACCGCAAGTGGTG	0.572																																																	0								ENSG00000036828						57.0	52.0	54.0					3																	122002947		2203	4300	6503	CASR	SO:0001583	missense	0			-	HGNC	U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"""GPCR / Class C : Calcium-sensing receptors"""	1514	protein-coding gene	gene with protein product	"""severe neonatal hyperparathyroidism"""	601199	"""hypocalciuric hypercalcemia 1"""	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.2146C>T	3.37:g.122002947C>T	ENSP00000418685:p.Arg716Cys	Somatic	0	17	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	12	29.41	Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,superfamily_Growth_fac_rcpt_N_dom,pfscan_GPCR_3_C,prints_GPCR_3	p.R726C	ENST00000490131.1	37	c.2176	CCDS3010.1	3	.	.	.	.	.	.	.	.	.	.	C	17.30	3.354476	0.61293	.	.	ENSG00000036828	ENST00000490131;ENST00000498619;ENST00000296154	D;D;D	0.87412	-2.25;-2.25;-2.25	6.04	6.04	0.98038	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.93501	0.7926	M	0.84326	2.69	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.991	D	0.93191	0.6583	10	0.52906	T	0.07	.	14.4089	0.67101	0.1473:0.8527:0.0:0.0	.	726;716	E7ENE0;P41180	.;CASR_HUMAN	C	716;726;716	ENSP00000418685:R716C;ENSP00000420194:R726C;ENSP00000296154:R716C	ENSP00000296154:R716C	R	+	1	0	CASR	123485637	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.878000	0.56130	2.873000	0.98535	0.561000	0.74099	CGC	-	pfam_GPCR_3_C,pfscan_GPCR_3_C		0.572	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASR	protein_coding	OTTHUMT00000355761.1	C	NM_000388	-		122002947	+1	no_errors	ENST00000498619	ensembl	human	known	74_37	missense	SNP	1.000	T
ATRX	546	genome.wustl.edu	37	X	76939398	76939419	+	Frame_Shift_Del	DEL	ACAAGGTTTTTCTCCTTTTCGT	ACAAGGTTTTTCTCCTTTTCGT	-			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	ACAAGGTTTTTCTCCTTTTCGT	ACAAGGTTTTTCTCCTTTTCGT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chrX:76939398_76939419delACAAGGTTTTTCTCCTTTTCGT	ENST00000373344.5	-	9	1543_1564	c.1329_1350delACGAAAAGGAGAAAAACCTTGT	c.(1327-1350)gcacgaaaaggagaaaaaccttgtfs	p.ARKGEKPC443fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.ARKGEKPC405fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	443					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TTTCCAAAGCACAAGGTTTTTCTCCTTTTCGTGCTTTTGTTT	0.36			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																																	Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	1	Unknown(1)	bone(1)						ENSG00000085224																																			ATRX	SO:0001589	frameshift_variant	0				HGNC	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.1329_1350delACGAAAAGGAGAAAAACCTTGT	X.37:g.76939398_76939419delACAAGGTTTTTCTCCTTTTCGT	ENSP00000362441:p.Ala443fs	Somatic	NA	NA	NA		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.R444fs	ENST00000373344.5	37	c.1350_1329	CCDS14434.1	X																																																																																			-	NULL		0.360	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATRX	protein_coding	OTTHUMT00000058860.2	ACAAGGTTTTTCTCCTTTTCGT	NM_000489			76939419	-1	no_errors	ENST00000373344	ensembl	human	known	74_37	frame_shift_del	DEL	0.000:0.000:0.000:0.000:0.000:0.005:0.711:0.853:0.965:0.963:0.984:0.989:0.985:0.987:1.000:0.999:0.997:0.900:0.041:0.004:0.000:0.001	-
TTC34	100287898	genome.wustl.edu	37	1	2576903	2576903	+	Missense_Mutation	SNP	G	G	C			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr1:2576903G>C	ENST00000401095.3	-	5	866	c.787C>G	c.(787-789)Cag>Gag	p.Q263E	TTC34_ENST00000401094.6_Missense_Mutation_p.Q66E	NM_001242672.1	NP_001229601.1	A8MYJ7	TTC34_HUMAN	tetratricopeptide repeat domain 34	263																	TAGAGGCCCTGTGTGATGAGG	0.667																																																	0								ENSG00000215912																																			TTC34	SO:0001583	missense	0			-	HGNC		CCDS55565.1	1p36.32	2013-01-11			ENSG00000215912	ENSG00000215912		"""Tetratricopeptide (TTC) repeat domain containing"""	34297	protein-coding gene	gene with protein product							Standard	NM_001242672		Approved		uc021oey.1	A8MYJ7	OTTHUMG00000000539	ENST00000401095.3:c.787C>G	1.37:g.2576903G>C	ENSP00000383873:p.Gln263Glu	Somatic	0	27	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	15	21.05	A8MXL8	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.Q263E	ENST00000401095.3	37	c.787	CCDS55565.1	1	.	.	.	.	.	.	.	.	.	.	.	12.04	1.817217	0.32145	.	.	ENSG00000215912	ENST00000401094;ENST00000401095	T	0.55413	0.52	4.98	4.98	0.66077	.	0.880490	0.09784	U	0.756338	T	0.46367	0.1389	L	0.41710	1.295	0.19575	N	0.999965	.	.	.	.	.	.	T	0.31971	-0.9924	8	0.06494	T	0.89	.	13.8294	0.63370	0.0:0.0:1.0:0.0	.	.	.	.	E	263	ENSP00000383873:Q263E	ENSP00000387700:Q263E	Q	-	1	0	TTC34	2566763	0.099000	0.21834	0.049000	0.19019	0.829000	0.46940	3.560000	0.53763	2.330000	0.79161	0.473000	0.43528	CAG	-	NULL		0.667	TTC34-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TTC34	protein_coding		G	XM_002342015	-		2576903	-1	no_errors	ENST00000401095	ensembl	human	known	74_37	missense	SNP	0.327	C
TP53	7157	genome.wustl.edu	37	17	7578431	7578431	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr17:7578431G>A	ENST00000269305.4	-	5	688	c.499C>T	c.(499-501)Cag>Tag	p.Q167*	TP53_ENST00000455263.2_Nonsense_Mutation_p.Q167*|TP53_ENST00000359597.4_Nonsense_Mutation_p.Q167*|TP53_ENST00000413465.2_Nonsense_Mutation_p.Q167*|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q167*|TP53_ENST00000420246.2_Nonsense_Mutation_p.Q167*	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	167	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in LFS; germline mutation and in a sporadic cancer; somatic mutation).|Q -> L (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).|QH -> HD (in a sporadic cancer; somatic mutation).|QH -> YL (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.Q167*(23)|p.0?(8)|p.Q167fs*13(3)|p.Q167fs*14(2)|p.Q167fs*3(2)|p.K164fs*3(2)|p.V157_C176del20(1)|p.Q167_H168>YL(1)|p.Q167K(1)|p.Y163fs*1(1)|p.Q167fs*12(1)|p.P151_V173del23(1)|p.Q165_M169delQSQHM(1)|p.Q167del(1)|p.S149fs*72(1)|p.A159_Q167delAMAIYKQSQ(1)|p.Q74*(1)|p.Q167E(1)|p.Q35*(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)	GTCATGTGCTGTGACTGCTTG	0.642		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	53	Substitution - Nonsense(25)|Deletion - Frameshift(10)|Whole gene deletion(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Substitution - Missense(2)|Complex - compound substitution(1)	upper_aerodigestive_tract(9)|lung(8)|oesophagus(8)|large_intestine(7)|breast(5)|bone(4)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(3)|stomach(2)|soft_tissue(1)|urinary_tract(1)|ovary(1)|liver(1)	GRCh37	CM942118	TP53	M		ENSG00000141510						54.0	54.0	54.0					17																	7578431		2203	4300	6503	TP53	SO:0001587	stop_gained	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;	-	HGNC	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.499C>T	17.37:g.7578431G>A	ENSP00000269305:p.Gln167*	Somatic	0	31	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	1	90.00	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	Nonsense_Mutation	SNP	NA	NA	NA	NA	NA	NA	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.Q167*	ENST00000269305.4	37	c.499	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	15.23	2.772268	0.49680	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.59	4.63	0.57726	.	0.106561	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-12.276	12.4331	0.55584	0.0:0.6985:0.3015:0.0	.	.	.	.	X	167;167;167;167;167;167;156;74;35;74;35	.	ENSP00000269305:Q167X	Q	-	1	0	TP53	7519156	1.000000	0.71417	0.013000	0.15412	0.114000	0.19823	5.156000	0.64905	1.520000	0.48965	0.655000	0.94253	CAG	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor		0.642	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	G	NM_000546	-		7578431	-1	no_errors	ENST00000269305	ensembl	human	known	74_37	nonsense	SNP	0.998	A
SLIT3	6586	genome.wustl.edu	37	5	168149295	168149295	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr5:168149295G>T	ENST00000519560.1	-	23	2868	c.2449C>A	c.(2449-2451)Cac>Aac	p.H817N	SLIT3_ENST00000404867.3_Missense_Mutation_p.H817N|CTC-558O2.1_ENST00000522615.1_RNA|SLIT3_ENST00000332966.8_Missense_Mutation_p.H817N	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	817					apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTGAAGGCGTGGACGGGGATG	0.537																																					Ovarian(29;311 847 10864 17279 24903)												0								ENSG00000184347						177.0	153.0	161.0					5																	168149295		2203	4300	6503	SLIT3	SO:0001583	missense	0			-	HGNC	AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"""slit (Drosophila) homolog 3"""	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.2449C>A	5.37:g.168149295G>T	ENSP00000430333:p.His817Asn	Somatic	0	65	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	27	18.18	A6H8U9|J3KNP3|O95804|Q9UFH5	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_EG-like_dom,pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G	p.H817N	ENST00000519560.1	37	c.2449	CCDS4369.1	5	.	.	.	.	.	.	.	.	.	.	G	11.78	1.740745	0.30865	.	.	ENSG00000184347	ENST00000519560;ENST00000332966;ENST00000404867	T;T;T	0.56611	0.45;0.45;0.45	4.44	3.56	0.40772	.	0.051479	0.85682	D	0.000000	T	0.32823	0.0842	N	0.03304	-0.355	0.51767	D	0.999939	B	0.26041	0.14	B	0.37239	0.244	T	0.08889	-1.0700	10	0.18710	T	0.47	.	12.6599	0.56808	0.0818:0.0:0.9181:0.0	.	817	O75094	SLIT3_HUMAN	N	817	ENSP00000430333:H817N;ENSP00000332164:H817N;ENSP00000384890:H817N	ENSP00000332164:H817N	H	-	1	0	SLIT3	168081873	1.000000	0.71417	0.942000	0.38095	0.705000	0.40729	2.877000	0.48506	0.834000	0.34852	0.467000	0.42956	CAC	-	smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_typical-subtyp		0.537	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLIT3	protein_coding	OTTHUMT00000252792.4	G	NM_003062	-		168149295	-1	no_errors	ENST00000519560	ensembl	human	known	74_37	missense	SNP	0.997	T
ZBTB18	10472	genome.wustl.edu	37	1	244217791	244217791	+	Missense_Mutation	SNP	G	G	T	rs368207817		TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr1:244217791G>T	ENST00000358704.4	+	2	864	c.715G>T	c.(715-717)Gtg>Ttg	p.V239L		NM_001278196.1|NM_006352.4|NM_205768.2	NP_001265125.1|NP_006343.2|NP_991331.1	Q99592	ZBT18_HUMAN	zinc finger and BTB domain containing 18	230				KLNILPSKRDLAAEPGNMWMRLPSDSAGIPQAGGEAEPHAT AAGKTVASPCSSTESLSQRSVTSVRDSADVDCVLDLSVKSS LSGVENLNSSYFSSQ -> IEHPAQQKGLGGRAWEHVDAIA LRLSRHPPGWRRGRATRHSSWKNSSQPLQLNRVFVPE (in Ref. 1; AAA81368). {ECO:0000305}.	cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron development (GO:0048666)|regulation of cell division (GO:0051302)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)										TGTCACCTCCGTGAGGGATTC	0.542																																																	0								ENSG00000179456						79.0	90.0	86.0					1																	244217791		2203	4300	6503	ZBTB18	SO:0001583	missense	0			-	HGNC	U38896	CCDS1622.1	1q44	2013-09-19	2013-01-09	2013-01-09	ENSG00000179456	ENSG00000179456		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13030	protein-coding gene	gene with protein product		608433	"""zinc finger protein 238"""	ZNF238		9568537, 9013868	Standard	NM_205768		Approved	C2H2-171, TAZ-1, RP58	uc031psv.1	Q99592	OTTHUMG00000040013	ENST00000358704.4:c.715G>T	1.37:g.244217791G>T	ENSP00000351539:p.Val239Leu	Somatic	0	19	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	4	73.33	A8K5U3|Q13397|Q5VU40|Q8N463|Q9UD99	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.V239L	ENST00000358704.4	37	c.715	CCDS1622.1	1	.	.	.	.	.	.	.	.	.	.	G	1.305	-0.603810	0.03717	.	.	ENSG00000179456	ENST00000366538;ENST00000358704	T	0.11604	2.76	5.02	5.02	0.67125	.	0.133496	0.47093	D	0.000249	T	0.06325	0.0163	N	0.14661	0.345	0.37678	D	0.923399	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.34378	-0.9831	10	0.27082	T	0.32	.	9.2515	0.37557	0.1581:0.0:0.8419:0.0	.	230;239	Q99592;Q99592-2	ZN238_HUMAN;.	L	239	ENSP00000351539:V239L	ENSP00000351539:V239L	V	+	1	0	ZNF238	242284414	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.147000	0.42226	2.616000	0.88540	0.650000	0.86243	GTG	-	NULL		0.542	ZBTB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB18	protein_coding	OTTHUMT00000096513.2	G	NM_205768	-		244217791	+1	no_errors	ENST00000358704	ensembl	human	known	74_37	missense	SNP	1.000	T
LRBA	987	genome.wustl.edu	37	4	151392869	151392869	+	Missense_Mutation	SNP	G	G	A	rs200164280		TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr4:151392869G>A	ENST00000357115.3	-	44	6850	c.6607C>T	c.(6607-6609)Cgt>Tgt	p.R2203C	LRBA_ENST00000510413.1_Missense_Mutation_p.R2192C|LRBA_ENST00000535741.1_Missense_Mutation_p.R2192C|LRBA_ENST00000503716.1_5'UTR|LRBA_ENST00000507224.1_Missense_Mutation_p.R2192C	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2203	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.					cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					AAAAGCTGACGTGGACTAGCT	0.333																																																	0								ENSG00000198589						106.0	107.0	107.0					4																	151392869		2203	4300	6503	LRBA	SO:0001583	missense	0			-	HGNC	AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"""WD repeat domain containing"""	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.6607C>T	4.37:g.151392869G>A	ENSP00000349629:p.Arg2203Cys	Somatic	0	58	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	5	83.87	Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom	p.R2203C	ENST00000357115.3	37	c.6607	CCDS3773.1	4	.	.	.	.	.	.	.	.	.	.	G	14.23	2.472046	0.43942	.	.	ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224	T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05	5.28	4.44	0.53790	BEACH domain (3);	0.121846	0.56097	D	0.000035	T	0.75510	0.3859	M	0.84156	2.68	0.58432	D	0.999998	D;P;D	0.89917	1.0;0.797;1.0	P;B;P	0.61874	0.816;0.221;0.895	T	0.77945	-0.2397	10	0.87932	D	0	.	8.2375	0.31636	0.081:0.0:0.7636:0.1553	.	2203;2192;93	P50851;P50851-2;Q68D03	LRBA_HUMAN;.;.	C	2192;2192;2203;2192	ENSP00000446299:R2192C;ENSP00000421552:R2192C;ENSP00000349629:R2203C;ENSP00000422180:R2192C	ENSP00000349629:R2203C	R	-	1	0	LRBA	151612319	1.000000	0.71417	0.998000	0.56505	0.250000	0.25880	3.960000	0.56752	1.350000	0.45770	-0.142000	0.14014	CGT	-	superfamily_BEACH_dom,pfscan_BEACH_dom		0.333	LRBA-002	KNOWN	basic|CCDS	protein_coding	LRBA	protein_coding	OTTHUMT00000364939.1	G		rs200164280		151392869	-1	no_errors	ENST00000357115	ensembl	human	known	74_37	missense	SNP	0.998	A
NPAP1	23742	genome.wustl.edu	37	15	24921350	24921350	+	Missense_Mutation	SNP	T	T	A			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr15:24921350T>A	ENST00000329468.2	+	1	810	c.336T>A	c.(334-336)agT>agA	p.S112R		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	112					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											GACACCCCAGTTCCGTAAGGA	0.667																																																	0								ENSG00000185823						52.0	43.0	46.0					15																	24921350		2200	4292	6492	NPAP1	SO:0001583	missense	0			-	HGNC	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.336T>A	15.37:g.24921350T>A	ENSP00000333735:p.Ser112Arg	Somatic	0	52	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	36	12.20		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.S112R	ENST00000329468.2	37	c.336	CCDS10015.1	15	.	.	.	.	.	.	.	.	.	.	.	0.005	-2.137259	0.00335	.	.	ENSG00000185823	ENST00000329468	T	0.05649	3.41	2.45	-4.91	0.03085	.	1.562850	0.04018	N	0.299356	T	0.03053	0.0090	N	0.14661	0.345	0.09310	N	1	B	0.12630	0.006	B	0.11329	0.006	T	0.38802	-0.9644	10	0.15952	T	0.53	.	0.8629	0.01197	0.1495:0.2599:0.2138:0.3767	.	112	Q9NZP6	CO002_HUMAN	R	112	ENSP00000333735:S112R	ENSP00000333735:S112R	S	+	3	2	C15orf2	22472443	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.391000	0.01057	-3.280000	0.00197	-1.543000	0.00907	AGT	-	NULL		0.667	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPAP1	protein_coding	OTTHUMT00000251253.1	T	NM_018958	-		24921350	+1	no_errors	ENST00000329468	ensembl	human	known	74_37	missense	SNP	0.000	A
TLE3	7090	genome.wustl.edu	37	15	70347560	70347560	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr15:70347560C>T	ENST00000558939.1	-	15	2792	c.1415G>A	c.(1414-1416)gGc>gAc	p.G472D	TLE3_ENST00000559929.1_Missense_Mutation_p.G482D|TLE3_ENST00000539550.1_Missense_Mutation_p.G399D|TLE3_ENST00000560939.1_Missense_Mutation_p.G474D|TLE3_ENST00000558379.1_Missense_Mutation_p.G467D|TLE3_ENST00000451782.2_Missense_Mutation_p.G469D|TLE3_ENST00000317509.8_Missense_Mutation_p.G460D|TLE3_ENST00000557997.1_Missense_Mutation_p.G464D|TLE3_ENST00000559191.1_Missense_Mutation_p.G53D|TLE3_ENST00000440567.3_Missense_Mutation_p.G462D|TLE3_ENST00000560589.1_Missense_Mutation_p.G416D|TLE3_ENST00000559048.1_Missense_Mutation_p.G472D|TLE3_ENST00000442299.2_Missense_Mutation_p.G464D|TLE3_ENST00000557907.1_Missense_Mutation_p.G464D|TLE3_ENST00000558201.1_Missense_Mutation_p.G478D	NM_001282979.1|NM_001282980.1|NM_001282981.1	NP_001269908.1|NP_001269909.1|NP_001269910.1	Q04726	TLE3_HUMAN	transducin-like enhancer of split 3	472					Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CCTCGGGATGCCGGGGCCTGC	0.637																																																	0								ENSG00000140332						55.0	63.0	60.0					15																	70347560		2199	4298	6497	TLE3	SO:0001583	missense	0			-	HGNC	M99438	CCDS45293.1, CCDS45294.1, CCDS58375.1, CCDS61689.1, CCDS61691.1, CCDS61692.1, CCDS73747.1	15q22	2014-03-07	2014-03-07			ENSG00000140332		"""WD repeat domain containing"""	11839	protein-coding gene	gene with protein product		600190	"""transducin-like enhancer of split 3, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)"""			8365415	Standard	XM_005254623		Approved	ESG, ESG3, KIAA1547, HsT18976, GRG3	uc002asm.2	Q04726		ENST00000558939.1:c.1415G>A	15.37:g.70347560C>T	ENSP00000452871:p.Gly472Asp	Somatic	0	33	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	38	9.52	B4DPT0|E9PD64|F8W964|Q6PI57|Q8IVV6|Q8WVR2|Q9HCM5	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Groucho/TLE_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance	p.G472D	ENST00000558939.1	37	c.1415	CCDS45293.1	15	.	.	.	.	.	.	.	.	.	.	C	24.8	4.567493	0.86439	.	.	ENSG00000140332	ENST00000442299;ENST00000451782;ENST00000317509;ENST00000440567;ENST00000539550;ENST00000542329	T;T;T;T	0.11385	2.78;2.78;2.78;2.78	4.54	3.62	0.41486	WD40 repeat-like-containing domain (1);	0.365640	0.30193	N	0.010187	T	0.35189	0.0923	M	0.88241	2.94	0.80722	D	1	P;D;D;D;D;D;D;D	0.67145	0.904;0.969;0.996;0.969;0.992;0.969;0.985;0.982	P;P;P;P;D;P;D;P	0.67548	0.644;0.788;0.897;0.724;0.952;0.657;0.921;0.815	T	0.31081	-0.9956	10	0.59425	D	0.04	-11.2741	11.6082	0.51045	0.0:0.9116:0.0:0.0884	.	462;469;464;467;460;472;472;399	F8W964;E9PD64;Q04726-3;Q6PI57;Q04726-2;Q04726;Q04726-4;F5H7D6	.;.;.;.;.;TLE3_HUMAN;.;.	D	464;469;472;462;399;139	ENSP00000390007:G464D;ENSP00000394717:G469D;ENSP00000415057:G462D;ENSP00000442594:G399D	ENSP00000319233:G472D	G	-	2	0	TLE3	68134614	1.000000	0.71417	0.997000	0.53966	0.938000	0.57974	4.747000	0.62141	1.137000	0.42214	0.462000	0.41574	GGC	-	superfamily_WD40_repeat_dom		0.637	TLE3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TLE3	protein_coding	OTTHUMT00000416913.1	C	NM_005078	-		70347560	-1	no_errors	ENST00000558939	ensembl	human	known	74_37	missense	SNP	1.000	T
SULT1A1	6817	genome.wustl.edu	37	16	28618098	28618098	+	Missense_Mutation	SNP	T	T	C			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr16:28618098T>C	ENST00000395607.1	-	6	851	c.578A>G	c.(577-579)tAt>tGt	p.Y193C	SULT1A1_ENST00000314752.7_Missense_Mutation_p.Y193C|SULT1A1_ENST00000350842.4_Missense_Mutation_p.Y115C|SULT1A1_ENST00000569554.1_Missense_Mutation_p.Y193C|SULT1A1_ENST00000395609.1_Missense_Mutation_p.Y193C	NM_177530.2|NM_177534.2	NP_803566.1|NP_803878.1	P50225	ST1A1_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	193					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|amine metabolic process (GO:0009308)|catecholamine metabolic process (GO:0006584)|estrogen metabolic process (GO:0008210)|flavonoid metabolic process (GO:0009812)|small molecule metabolic process (GO:0044281)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	aryl sulfotransferase activity (GO:0004062)|flavonol 3-sulfotransferase activity (GO:0047894)|steroid sulfotransferase activity (GO:0050294)|sulfotransferase activity (GO:0008146)			endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2)	16					Acetaminophen(DB00316)|Tamoxifen(DB00675)	CATGTCTTCATAGAAGAGGTA	0.622																																																	0								ENSG00000196502						136.0	98.0	111.0					16																	28618098		2197	4300	6497	SULT1A1	SO:0001583	missense	0			-	HGNC	U52852	CCDS10637.1, CCDS32420.1	16p12.1	2008-02-05			ENSG00000196502	ENSG00000196502	2.8.2.1	"""Sulfotransferases, cytosolic"""	11453	protein-coding gene	gene with protein product		171150		STP, STP1		8288252, 8912648	Standard	NM_177534		Approved	P-PST	uc002dqj.3	P50225	OTTHUMG00000131765	ENST00000395607.1:c.578A>G	16.37:g.28618098T>C	ENSP00000378971:p.Tyr193Cys	Somatic	0	36	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	21	55.32	Q2NL71|Q86U58|Q92818|Q9BVU6|Q9UGG7	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.Y193C	ENST00000395607.1	37	c.578	CCDS32420.1	16	.	.	.	.	.	.	.	.	.	.	t	13.35	2.211481	0.39102	.	.	ENSG00000196502	ENST00000314752;ENST00000350842;ENST00000395609;ENST00000395607	T;T;T;T	0.08896	3.04;3.04;3.04;3.04	2.42	2.42	0.29668	Sulfotransferase domain (1);	0.179687	0.38959	N	0.001517	T	0.35393	0.0930	H	0.96239	3.79	0.40572	D	0.981312	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;0.999	T	0.36286	-0.9754	10	0.87932	D	0	.	6.8097	0.23796	0.0:0.0:0.0:1.0	.	145;115;193	Q59GG0;P50225-2;P50225	.;.;ST1A1_HUMAN	C	193;115;193;193	ENSP00000321988:Y193C;ENSP00000329399:Y115C;ENSP00000378972:Y193C;ENSP00000378971:Y193C	ENSP00000321988:Y193C	Y	-	2	0	SULT1A1	28525599	0.957000	0.32711	1.000000	0.80357	0.831000	0.47069	1.563000	0.36364	1.374000	0.46228	0.254000	0.18369	TAT	-	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase		0.622	SULT1A1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SULT1A1	protein_coding	OTTHUMT00000254694.2	T	NM_001055	-		28618098	-1	no_errors	ENST00000314752	ensembl	human	known	74_37	missense	SNP	0.999	C
RALGAPA2	57186	genome.wustl.edu	37	20	20620468	20620468	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr20:20620468G>T	ENST00000202677.7	-	7	634	c.627C>A	c.(625-627)tgC>tgA	p.C209*		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	209					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						GAAGAAAAAAGCAGGTTTGGT	0.373																																																	0								ENSG00000188559						142.0	132.0	135.0					20																	20620468		1812	4093	5905	RALGAPA2	SO:0001587	stop_gained	0			-	HGNC	AL078634, DQ310704	CCDS46584.1	20p11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000188559	ENSG00000188559			16207	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 74"""	C20orf74		16490346, 19520869	Standard	NM_020343		Approved	dJ1049G11.4, AS250, KIAA1272, RapGAPalpha2	uc002wrz.3	Q2PPJ7	OTTHUMG00000032010	ENST00000202677.7:c.627C>A	20.37:g.20620468G>T	ENSP00000202677:p.Cys209*	Somatic	0	111	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	42	54	43.75	Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8	Nonsense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Rap_GAP_dom,superfamily_ARM-type_fold,pfscan_Rap_GAP_dom	p.C209*	ENST00000202677.7	37	c.627	CCDS46584.1	20	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	38|38|38	6.997160|6.997160|6.997160	0.97990|0.97990|0.97990	.|.|.	.|.|.	ENSG00000188559|ENSG00000188559|ENSG00000188559	ENST00000430436|ENST00000202677;ENST00000424981;ENST00000424490;ENST00000438161|ENST00000432524	.|.|.	.|.|.	.|.|.	5.54|5.54|5.54	4.58|4.58|4.58	0.56647|0.56647|0.56647	.|.|.	.|0.000000|.	.|0.85682|.	.|D|.	.|0.000000|.	T|.|T	0.64811|.|0.64811	0.2632|.|0.2632	.|.|.	.|.|.	.|.|.	0.80722|0.80722|0.80722	A|A|A	1|1|1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|.|T	0.70963|.|0.70963	-0.4729|.|-0.4729	3|.|3	.|0.56958|.	.|D|.	.|0.05|.	.|.|.	14.3368|14.3368|14.3368	0.66595|0.66595|0.66595	0.073:0.0:0.927:0.0|0.073:0.0:0.927:0.0|0.073:0.0:0.927:0.0	.|.|.	.|.|.	.|.|.	.|.|.	D|X|I	26|209;61;61;209|61	.|.|.	.|ENSP00000202677:C209X|.	A|C|L	-|-|-	2|3|1	0|2|0	RALGAPA2|RALGAPA2|RALGAPA2	20568468|20568468|20568468	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.994000|0.994000|0.994000	0.84299|0.84299|0.84299	4.856000|4.856000|4.856000	0.62932|0.62932|0.62932	1.311000|1.311000|1.311000	0.45024|0.45024|0.45024	0.563000|0.563000|0.563000	0.77884|0.77884|0.77884	GCT|TGC|CTT	-	NULL		0.373	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	RALGAPA2	protein_coding	OTTHUMT00000471941.1	G	NM_020343	-		20620468	-1	no_errors	ENST00000202677	ensembl	human	known	74_37	nonsense	SNP	1.000	T
EIF4G3	8672	genome.wustl.edu	37	1	21276516	21276516	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr1:21276516G>A	ENST00000264211.8	-	7	829	c.635C>T	c.(634-636)gCa>gTa	p.A212V	EIF4G3_ENST00000536266.1_Intron|EIF4G3_ENST00000374927.4_Missense_Mutation_p.A212V|EIF4G3_ENST00000356916.3_Missense_Mutation_p.A223V|EIF4G3_ENST00000374937.3_Missense_Mutation_p.A218V|EIF4G3_ENST00000602326.1_Missense_Mutation_p.A218V|EIF4G3_ENST00000374935.3_Missense_Mutation_p.A212V|EIF4G3_ENST00000400422.1_Missense_Mutation_p.A212V	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	212					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of meiosis I (GO:0060903)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|regulation of translational initiation (GO:0006446)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		GTCGCTAGCTGCAGTGACAGG	0.498																																																	0								ENSG00000075151						68.0	67.0	68.0					1																	21276516		2203	4300	6503	EIF4G3	SO:0001583	missense	0			-	HGNC	AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.635C>T	1.37:g.21276516G>A	ENSP00000264211:p.Ala212Val	Somatic	0	27	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	10	23.08	B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,pfam_W2_domain,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain	p.A218V	ENST00000264211.8	37	c.653	CCDS214.1	1	.	.	.	.	.	.	.	.	.	.	G	18.49	3.635478	0.67130	.	.	ENSG00000075151	ENST00000264211;ENST00000400415;ENST00000400422;ENST00000374935;ENST00000374937;ENST00000356916;ENST00000374927;ENST00000537059;ENST00000438975	T;T;T;T;T;T	0.22539	1.95;1.95;1.95;1.95;1.95;1.95	5.92	5.92	0.95590	.	0.366667	0.27650	N	0.018437	T	0.32133	0.0819	N	0.19112	0.55	0.52501	D	0.999958	B;B;B;D;B;B	0.71674	0.404;0.43;0.001;0.998;0.43;0.012	B;B;B;D;B;B	0.80764	0.206;0.229;0.002;0.994;0.13;0.005	T	0.03394	-1.1041	10	0.51188	T	0.08	-14.1773	15.4618	0.75363	0.0677:0.0:0.9323:0.0	.	212;407;212;338;218;212	B4DXR2;Q59GJ0;Q504Z1;B1AN89;B9EGQ7;O43432	.;.;.;.;.;IF4G3_HUMAN	V	212;408;212;212;218;338;212;223;212	ENSP00000264211:A212V;ENSP00000383274:A212V;ENSP00000364071:A212V;ENSP00000364073:A218V;ENSP00000364062:A212V;ENSP00000395381:A212V	ENSP00000264211:A212V	A	-	2	0	EIF4G3	21149103	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.796000	0.62496	2.822000	0.97130	0.650000	0.86243	GCA	-	NULL		0.498	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	EIF4G3	protein_coding	OTTHUMT00000007467.3	G	NM_003760	-		21276516	-1	no_errors	ENST00000374937	ensembl	human	known	74_37	missense	SNP	1.000	A
SLAMF1	6504	genome.wustl.edu	37	1	160604456	160604456	+	Missense_Mutation	SNP	C	C	A			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr1:160604456C>A	ENST00000302035.6	-	3	996	c.647G>T	c.(646-648)aGc>aTc	p.S216I	SLAMF1_ENST00000538290.1_Missense_Mutation_p.S216I|SLAMF1_ENST00000355199.3_Missense_Mutation_p.S216I|SLAMF1_ENST00000235739.5_Missense_Mutation_p.S216I	NM_003037.2	NP_003028.1	Q13291	SLAF1_HUMAN	signaling lymphocytic activation molecule family member 1	216	Ig-like C2-type.				lymphocyte activation (GO:0046649)|positive regulation of cell proliferation (GO:0008284)|regulation of catalytic activity (GO:0050790)|regulation of vesicle fusion (GO:0031338)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|phagocytic vesicle (GO:0045335)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			GGAATTGTTGCTGATAGGGTT	0.597																																																	0								ENSG00000117090						158.0	144.0	149.0					1																	160604456		2203	4300	6503	SLAMF1	SO:0001583	missense	0			-	HGNC	U33017	CCDS1207.1	1q23.3	2013-01-11	2003-10-29	2003-10-31	ENSG00000117090	ENSG00000117090		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10903	protein-coding gene	gene with protein product		603492	"""signaling lymphocytic activation molecule"""	SLAM		7617038	Standard	XM_005245456		Approved	CD150	uc001fwl.4	Q13291	OTTHUMG00000024006	ENST00000302035.6:c.647G>T	1.37:g.160604456C>A	ENSP00000306190:p.Ser216Ile	Somatic	0	34	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	28	28.21	Q5W172|Q9HBE8	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Sig_lymph_act_molc_N,pfscan_Ig-like_dom	p.S216I	ENST00000302035.6	37	c.647	CCDS1207.1	1	.	.	.	.	.	.	.	.	.	.	C	13.75	2.331561	0.41297	.	.	ENSG00000117090	ENST00000302035;ENST00000235739;ENST00000538290;ENST00000355199	T;T;T;T	0.55760	0.5;0.5;0.5;0.5	4.24	4.24	0.50183	Immunoglobulin-like (1);	0.043242	0.85682	D	0.000000	T	0.75679	0.3882	H	0.95043	3.615	0.44754	D	0.997757	D	0.89917	1.0	D	0.91635	0.999	T	0.81623	-0.0849	10	0.87932	D	0	-37.9062	12.4339	0.55588	0.0:1.0:0.0:0.0	.	216	Q13291	SLAF1_HUMAN	I	216	ENSP00000306190:S216I;ENSP00000235739:S216I;ENSP00000438406:S216I;ENSP00000347333:S216I	ENSP00000235739:S216I	S	-	2	0	SLAMF1	158871080	1.000000	0.71417	0.997000	0.53966	0.070000	0.16714	2.497000	0.45354	2.640000	0.89533	0.650000	0.86243	AGC	-	pfscan_Ig-like_dom		0.597	SLAMF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLAMF1	protein_coding	OTTHUMT00000060454.1	C		-		160604456	-1	no_errors	ENST00000302035	ensembl	human	known	74_37	missense	SNP	0.998	A
PAXBP1	94104	genome.wustl.edu	37	21	34109575	34109575	+	Nonsense_Mutation	SNP	T	T	A			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr21:34109575T>A	ENST00000331923.4	-	17	2815	c.2626A>T	c.(2626-2628)Aga>Tga	p.R876*	PAXBP1-AS1_ENST00000455170.1_RNA|PAXBP1-AS1_ENST00000440052.1_RNA	NM_016631.3	NP_057715.2	Q9Y5B6	PAXB1_HUMAN	PAX3 and PAX7 binding protein 1	876					muscle organ development (GO:0007517)|positive regulation of histone methylation (GO:0031062)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of satellite cell proliferation (GO:0014842)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)										CTTGCATTTCTTTTTTCCACA	0.294																																																	0								ENSG00000159086						66.0	65.0	65.0					21																	34109575		2202	4298	6500	PAXBP1	SO:0001587	stop_gained	0			-	HGNC	AF231920	CCDS13619.1, CCDS33541.1	21q22.11	2014-01-23	2013-01-08	2013-01-08	ENSG00000159086	ENSG00000159086			13579	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 105"", ""GC-rich sequence DNA-binding factor candidate"""		"""chromosome 21 open reading frame 66"", ""GC-rich sequence DNA-binding factor 1"""	C21orf66, GCFC1		11707072, 22862948	Standard	NM_016631		Approved	GCFC, fSAP105	uc002yqn.3	Q9Y5B6	OTTHUMG00000064980	ENST00000331923.4:c.2626A>T	21.37:g.34109575T>A	ENSP00000328992:p.Arg876*	Somatic	0	162	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	92	10.68	D3DSE7|Q96DU8|Q9NYQ0	Nonsense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_GCFC_dom	p.R876*	ENST00000331923.4	37	c.2626	CCDS13619.1	21	.	.	.	.	.	.	.	.	.	.	T	40	8.247921	0.98724	.	.	ENSG00000159086	ENST00000331923	.	.	.	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-24.0001	14.8781	0.70510	0.0:0.0:0.0:1.0	.	.	.	.	X	876	.	ENSP00000328992:R876X	R	-	1	2	GCFC1	33031446	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.119000	0.50422	2.129000	0.65627	0.460000	0.39030	AGA	-	NULL		0.294	PAXBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAXBP1	protein_coding	OTTHUMT00000139563.1	T	NM_013329	-		34109575	-1	no_errors	ENST00000331923	ensembl	human	known	74_37	nonsense	SNP	1.000	A
IL10RA	3587	genome.wustl.edu	37	11	117864852	117864852	+	Missense_Mutation	SNP	C	C	A			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr11:117864852C>A	ENST00000227752.3	+	5	796	c.676C>A	c.(676-678)Ctc>Atc	p.L226I	IL10RA_ENST00000541785.1_Missense_Mutation_p.L206I|IL10RA_ENST00000533700.1_3'UTR|IL10RA_ENST00000545409.1_Missense_Mutation_p.L77I	NM_001558.3	NP_001549.2	Q13651	I10R1_HUMAN	interleukin 10 receptor, alpha	226					cytokine-mediated signaling pathway (GO:0019221)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-10 receptor activity (GO:0004920)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)		GTGCATCTCCCTCACCAGGCA	0.577																																																	0								ENSG00000110324						79.0	66.0	70.0					11																	117864852		2200	4296	6496	IL10RA	SO:0001583	missense	0			-	HGNC	U00672	CCDS8388.1	11q23	2014-09-17			ENSG00000110324	ENSG00000110324		"""Interleukins and interleukin receptors"", ""CD molecules"""	5964	protein-coding gene	gene with protein product		146933		IL10R		8120391	Standard	NR_026691		Approved	HIL-10R, CDW210A, CD210a, CD210	uc001prv.3	Q13651	OTTHUMG00000166523	ENST00000227752.3:c.676C>A	11.37:g.117864852C>A	ENSP00000227752:p.Leu226Ile	Somatic	0	46	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00	A8K6I0|B0YJ27	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	superfamily_Fibronectin_type3	p.L226I	ENST00000227752.3	37	c.676	CCDS8388.1	11	.	.	.	.	.	.	.	.	.	.	C	3.664	-0.068906	0.07228	.	.	ENSG00000110324	ENST00000227752;ENST00000541785;ENST00000545409;ENST00000536858	T;T;T	0.39592	1.07;1.07;1.07	5.26	-5.89	0.02282	Fibronectin, type III (1);Immunoglobulin-like fold (1);	1.134870	0.06509	N	0.737690	T	0.27169	0.0666	L	0.48362	1.52	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.12837	0.008;0.003	T	0.29488	-1.0010	10	0.11182	T	0.66	-6.3749	5.0797	0.14649	0.3055:0.2235:0.4016:0.0694	.	206;226	F5GYV8;Q13651	.;I10R1_HUMAN	I	226;206;77;206	ENSP00000227752:L226I;ENSP00000441397:L206I;ENSP00000443019:L77I	ENSP00000227752:L226I	L	+	1	0	IL10RA	117370062	0.000000	0.05858	0.000000	0.03702	0.063000	0.16089	-0.986000	0.03747	-0.934000	0.03733	-0.150000	0.13652	CTC	-	superfamily_Fibronectin_type3		0.577	IL10RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL10RA	protein_coding	OTTHUMT00000390167.1	C		-		117864852	+1	no_errors	ENST00000227752	ensembl	human	known	74_37	missense	SNP	0.000	A
FBP2	8789	genome.wustl.edu	37	9	97321346	97321346	+	Silent	SNP	C	C	T			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr9:97321346C>T	ENST00000375337.3	-	7	960	c.894G>A	c.(892-894)acG>acA	p.T298T	PCAT7_ENST00000452148.2_RNA	NM_003837.2	NP_003828.2	O00757	F16P2_HUMAN	fructose-1,6-bisphosphatase 2	298					carbohydrate metabolic process (GO:0005975)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|small molecule metabolic process (GO:0044281)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	fructose 1,6-bisphosphate 1-phosphatase activity (GO:0042132)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(3)|lung(5)	9		Acute lymphoblastic leukemia(62;0.136)				GCTGGGTCCCCGTGGTCGCCA	0.582																																																	0								ENSG00000130957						82.0	75.0	78.0					9																	97321346		2203	4300	6503	FBP2	SO:0001819	synonymous_variant	0			-	HGNC	Y10812	CCDS6711.1	9q22.3	2012-08-13			ENSG00000130957	ENSG00000130957	3.1.3.11		3607	protein-coding gene	gene with protein product		603027				9678974	Standard	NM_003837		Approved		uc004auv.3	O00757	OTTHUMG00000020269	ENST00000375337.3:c.894G>A	9.37:g.97321346C>T		Somatic	0	20	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	21	38.24	Q17R39|Q6FI53	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_FBPase_class-1/SBPase,pfam_Inositol_monophosphatase,prints_FBPtase,prints_SBPase	p.T298	ENST00000375337.3	37	c.894	CCDS6711.1	9																																																																																			-	pfam_FBPase_class-1/SBPase		0.582	FBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBP2	protein_coding	OTTHUMT00000053189.1	C	NM_003837	-		97321346	-1	no_errors	ENST00000375337	ensembl	human	known	74_37	silent	SNP	0.993	T
MT-CO1	4512	genome.wustl.edu	37	M	5877	5877	+	5'Flank	SNP	C	C	A			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chrM:5877C>A	ENST00000361624.2	+	0	0				MT-TC_ENST00000387405.1_RNA|MT-ATP8_ENST00000361851.1_5'Flank|MT-TA_ENST00000387392.1_RNA|MT-TL1_ENST00000386347.1_RNA|MT-TM_ENST00000387377.1_RNA|MT-TD_ENST00000387419.1_RNA|MT-TK_ENST00000387421.1_RNA|MT-CO2_ENST00000361739.1_5'Flank|MT-TQ_ENST00000387372.1_RNA|MT-TI_ENST00000387365.1_RNA|MT-ATP6_ENST00000361899.2_5'Flank|MT-RNR2_ENST00000387347.2_RNA|MT-TW_ENST00000387382.1_RNA|MT-TS1_ENST00000387416.2_RNA|MT-TN_ENST00000387400.1_RNA|MT-TY_ENST00000387409.1_RNA			P00395	COX1_HUMAN	mitochondrially encoded cytochrome c oxidase I						aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex IV (GO:0005751)|respiratory chain complex IV (GO:0045277)	cytochrome-c oxidase activity (GO:0004129)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						CCAATGCTTCACTCAGCCATT	0.433																																																	0								ENSG00000210144																																			MT-TY	SO:0001631	upstream_gene_variant	0			-	HGNC			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198804	ENSG00000198804		"""Mitochondrial respiratory chain complex / Complex IV"""	7419	protein-coding gene	gene with protein product		516030	"""cytochrome c oxidase I"""	MTCO1		7219534	Standard			Approved	COX1, COI		P00395			M.37:g.5877C>A	Exception_encountered	Somatic	0	85	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	20	9.09	Q34770	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000361624.2	37	NULL		MT																																																																																			-	-		0.433	MT-CO1-201	KNOWN	basic|appris_principal	protein_coding	MT-TY	protein_coding		C	YP_003024028	-		5877	-1	no_errors	ENST00000387409	ensembl	human	known	74_37	rna	SNP	NULL	A
YTHDC2	64848	genome.wustl.edu	37	5	112920136	112920136	+	Missense_Mutation	SNP	C	C	A			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr5:112920136C>A	ENST00000161863.4	+	26	3998	c.3785C>A	c.(3784-3786)cCa>cAa	p.P1262Q		NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	1262	Ser-rich.				ATP catabolic process (GO:0006200)|positive regulation by host of viral genome replication (GO:0044829)|response to interleukin-1 (GO:0070555)|response to tumor necrosis factor (GO:0034612)	endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA polymerase binding (GO:0070063)|RNA-dependent ATPase activity (GO:0008186)			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		AGTAGTTACCCAAGTCCTTGT	0.418																																																	0								ENSG00000047188						158.0	139.0	146.0					5																	112920136		2202	4300	6502	YTHDC2	SO:0001583	missense	0			-	HGNC	AK000915	CCDS4113.1	5q22.3	2008-02-05			ENSG00000047188	ENSG00000047188			24721	protein-coding gene	gene with protein product						12477932	Standard	NM_022828		Approved	FLJ2194, FLJ10053, DKFZp564A186	uc003kqn.3	Q9H6S0	OTTHUMG00000128837	ENST00000161863.4:c.3785C>A	5.37:g.112920136C>A	ENSP00000161863:p.Pro1262Gln	Somatic	0	105	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51	B2RP66	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_YTH_domain,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DUF1605,pfam_R3H_ss-bd,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_R3H_ss-bd,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_R3H_ss-bd,pfscan_YTH_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.P1262Q	ENST00000161863.4	37	c.3785	CCDS4113.1	5	.	.	.	.	.	.	.	.	.	.	C	15.43	2.829953	0.50845	.	.	ENSG00000047188	ENST00000161863;ENST00000511372	T	0.02579	4.24	5.06	4.19	0.49359	.	0.134024	0.49916	D	0.000123	T	0.05044	0.0135	L	0.43152	1.355	0.80722	D	1	D	0.55385	0.971	P	0.47299	0.543	T	0.37033	-0.9723	10	0.72032	D	0.01	.	12.878	0.58001	0.0:0.9212:0.0:0.0788	.	1262	Q9H6S0	YTDC2_HUMAN	Q	1262;1172	ENSP00000161863:P1262Q	ENSP00000161863:P1262Q	P	+	2	0	YTHDC2	112948035	0.996000	0.38824	1.000000	0.80357	0.996000	0.88848	3.057000	0.49931	2.351000	0.79841	0.591000	0.81541	CCA	-	NULL		0.418	YTHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YTHDC2	protein_coding	OTTHUMT00000250776.2	C	NM_022828	-		112920136	+1	no_errors	ENST00000161863	ensembl	human	known	74_37	missense	SNP	1.000	A
CNOT10	25904	genome.wustl.edu	37	3	32805973	32805973	+	Missense_Mutation	SNP	A	A	G			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr3:32805973A>G	ENST00000328834.5	+	16	2183	c.1867A>G	c.(1867-1869)Atg>Gtg	p.M623V	CNOT10_ENST00000331889.6_Missense_Mutation_p.M596V|CNOT10_ENST00000454516.2_Missense_Mutation_p.M683V	NM_015442.2	NP_056257.1	Q9H9A5	CNO10_HUMAN	CCR4-NOT transcription complex, subunit 10	623					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(3)	23						AAATGAAGCAATGGAATCCTG	0.388																																																	0								ENSG00000182973						125.0	128.0	127.0					3																	32805973		2203	4300	6503	CNOT10	SO:0001583	missense	0			-	HGNC	BC002928	CCDS2655.1, CCDS58821.1, CCDS58822.1	3p23	2013-01-10			ENSG00000182973	ENSG00000182973		"""Tetratricopeptide (TTC) repeat domain containing"""	23817	protein-coding gene	gene with protein product							Standard	NR_046352		Approved	FLJ12890, FLJ13165	uc011axj.2	Q9H9A5	OTTHUMG00000130748	ENST00000328834.5:c.1867A>G	3.37:g.32805973A>G	ENSP00000330060:p.Met623Val	Somatic	0	118	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	89	4	95.70	B7Z7L1|F8WAF2|Q9BU30|Q9H5J7|Q9H8X1|Q9H9W0|Q9HAH3|Q9UFJ2	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_TPR_1,smart_TPR_repeat	p.M683V	ENST00000328834.5	37	c.2047	CCDS2655.1	3	.	.	.	.	.	.	.	.	.	.	A	4.603	0.112039	0.08831	.	.	ENSG00000182973	ENST00000331889;ENST00000328834;ENST00000454516	T;T;T	0.29397	1.58;1.58;1.57	5.97	5.97	0.96955	Tetratricopeptide-like helical (1);	0.121633	0.85682	D	0.000000	T	0.16471	0.0396	N	0.04508	-0.205	0.80722	D	1	B;B;B;B	0.06786	0.001;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.0;0.001;0.0	T	0.13683	-1.0500	10	0.17369	T	0.5	-24.5806	16.4608	0.84044	1.0:0.0:0.0:0.0	.	683;596;622;623	F8WAF2;Q9H9A5-3;Q9H9A5-2;Q9H9A5	.;.;.;CNOTA_HUMAN	V	596;623;683	ENSP00000329376:M596V;ENSP00000330060:M623V;ENSP00000399862:M683V	ENSP00000330060:M623V	M	+	1	0	CNOT10	32780977	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.221000	0.65272	2.288000	0.76882	0.533000	0.62120	ATG	-	NULL		0.388	CNOT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNOT10	protein_coding	OTTHUMT00000253248.2	A	NM_015442	-		32805973	+1	no_errors	ENST00000454516	ensembl	human	known	74_37	missense	SNP	1.000	G
NPHP3	27031	genome.wustl.edu	37	3	132440707	132440707	+	Intron	SNP	C	C	T			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr3:132440707C>T	ENST00000337331.5	-	1	480				NPHP3-AS1_ENST00000489343.1_RNA|NPHP3_ENST00000383282.2_Intron|NPHP3_ENST00000343113.4_Intron|NPHP3-AS1_ENST00000504440.1_RNA|NPHP3_ENST00000326682.8_Intron	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)						atrial septum development (GO:0003283)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|determination of intestine left/right asymmetry (GO:0071908)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|determination of stomach left/right asymmetry (GO:0071909)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|establishment or maintenance of cell polarity (GO:0007163)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|kidney development (GO:0001822)|kidney morphogenesis (GO:0060993)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|maintenance of organ identity (GO:0048496)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|photoreceptor cell maintenance (GO:0045494)|regulation of cAMP metabolic process (GO:0030814)|regulation of planar cell polarity pathway involved in neural tube closure (GO:2000167)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|ureter development (GO:0072189)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|primary cilium (GO:0072372)				NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TTAAAATGGGCAGTTTCCGCC	0.552																																																	0								ENSG00000248724																																			NPHP3-AS1	SO:0001627	intron_variant	0			-	HGNC	AB056657	CCDS3078.1	3q22	2014-07-18			ENSG00000113971	ENSG00000113971		"""Tetratricopeptide (TTC) repeat domain containing"""	7907	protein-coding gene	gene with protein product	"""nephrocystin-3"", ""Meckel syndrome, type 7"", ""cilia and flagella associated protein 31"""	608002				12872122, 15381417	Standard	NM_153240		Approved	NPH3, KIAA2000, FLJ30691, FLJ36696, MKS7, SLSN3, CFAP31	uc003epe.2	Q7Z494	OTTHUMG00000159713	ENST00000337331.5:c.393+99G>A	3.37:g.132440707C>T		Somatic	0	121	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	43	33.85	Q5JPE3|Q5JPE6|Q68D99|Q6NVH3|Q7Z492|Q7Z493|Q8N9R2|Q8NCM5|Q96N70|Q96NK2	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000337331.5	37	NULL	CCDS3078.1	3																																																																																			-	-		0.552	NPHP3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	NPHP3-AS1	protein_coding	OTTHUMT00000357020.2	C	NM_153240	-		132440707	+1	no_errors	ENST00000489343	ensembl	human	known	74_37	rna	SNP	0.000	T
CPSF4L	642843	genome.wustl.edu	37	17	71247236	71247236	+	Intron	SNP	G	G	T	rs9895593	byFrequency	TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr17:71247236G>T	ENST00000344935.4	-	5	559				CPSF4L_ENST00000397671.1_Missense_Mutation_p.P107T	NM_001129885.1	NP_001123357.1	A6NMK7	CPS4L_HUMAN	cleavage and polyadenylation specific factor 4-like								metal ion binding (GO:0046872)|RNA binding (GO:0003723)			breast(1)|prostate(1)	2						GGGCCGGCTGGCAAGCTACAG	0.587																																																	0								ENSG00000187959																																			CPSF4L	SO:0001627	intron_variant	0			-	HGNC		CCDS45768.1	17q25.1	2010-07-06			ENSG00000187959	ENSG00000187959			33632	protein-coding gene	gene with protein product							Standard	NM_001129885		Approved		uc010dfk.1	A6NMK7	OTTHUMG00000132640	ENST00000344935.4:c.497+1532C>A	17.37:g.71247236G>T		Somatic	0	27	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	29	12.12	A8MU95|B2RXI9	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Znf_CCCH,smart_Znf_CCCH	p.P107T	ENST00000344935.4	37	c.319	CCDS45768.1	17	.	.	.	.	.	.	.	.	.	.	A	7.956	0.745898	0.15710	.	.	ENSG00000187959	ENST00000397671	T	0.34275	1.37	3.26	2.12	0.27331	.	2572.290000	0.00166	U	0.000006	T	0.22322	0.0538	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.12502	-1.0545	7	0.21540	T	0.41	.	3.4815	0.07603	0.6405:0.2332:0.1263:0.0	.	.	.	.	T	107	ENSP00000380788:P107T	ENSP00000380788:P107T	P	-	1	0	CPSF4L	68758831	0.001000	0.12720	0.001000	0.08648	0.005000	0.04900	0.995000	0.29706	0.153000	0.19213	-0.254000	0.11334	CCA	-	NULL		0.587	CPSF4L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CPSF4L	protein_coding	OTTHUMT00000441896.1	G	NM_001129885	-		71247236	-1	no_errors	ENST00000397671	ensembl	human	known	74_37	missense	SNP	0.001	T
ABCC12	94160	genome.wustl.edu	37	16	48145504	48145504	+	Missense_Mutation	SNP	C	C	A			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr16:48145504C>A	ENST00000311303.3	-	15	2539	c.2194G>T	c.(2194-2196)Gat>Tat	p.D732Y	ABCC12_ENST00000416054.1_3'UTR|ABCC12_ENST00000448542.1_Missense_Mutation_p.D732Y	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	732						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				ATACCAGCATCTTCCTCTCTC	0.453																																																	0								ENSG00000140798						308.0	321.0	316.0					16																	48145504		2201	4300	6501	ABCC12	SO:0001583	missense	0			-	HGNC	AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"""ATP binding cassette transporters / subfamily C"""	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.2194G>T	16.37:g.48145504C>A	ENSP00000311030:p.Asp732Tyr	Somatic	0	62	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	14	48.15	Q49AL2|Q8TAF0|Q8TEY2	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.D732Y	ENST00000311303.3	37	c.2194	CCDS10730.1	16	.	.	.	.	.	.	.	.	.	.	C	10.40	1.339576	0.24339	.	.	ENSG00000140798	ENST00000311303;ENST00000448542;ENST00000449939	D;T	0.91894	-2.93;0.97	5.2	4.15	0.48705	.	1.099420	0.06815	N	0.791046	D	0.87939	0.6304	L	0.38838	1.175	0.22081	N	0.999379	B	0.27823	0.19	B	0.29716	0.106	T	0.78064	-0.2350	10	0.62326	D	0.03	.	5.7932	0.18371	0.0:0.8304:0.0:0.1696	.	732	Q96J65	MRP9_HUMAN	Y	732;732;674	ENSP00000311030:D732Y;ENSP00000401855:D732Y	ENSP00000311030:D732Y	D	-	1	0	ABCC12	46703005	0.721000	0.28007	0.008000	0.14137	0.011000	0.07611	2.666000	0.46799	2.427000	0.82271	0.491000	0.48974	GAT	-	NULL		0.453	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC12	protein_coding	OTTHUMT00000256837.1	C	NM_033226	-		48145504	-1	no_errors	ENST00000311303	ensembl	human	known	74_37	missense	SNP	0.013	A
LY9	4063	genome.wustl.edu	37	1	160784371	160784371	+	Missense_Mutation	SNP	A	A	T			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr1:160784371A>T	ENST00000263285.6	+	4	922	c.892A>T	c.(892-894)Acg>Tcg	p.T298S	LY9_ENST00000368037.5_Missense_Mutation_p.T298S|LY9_ENST00000368040.1_De_novo_Start_InFrame|LY9_ENST00000471816.1_3'UTR|LY9_ENST00000368041.2_Missense_Mutation_p.T258S|LY9_ENST00000341032.4_Missense_Mutation_p.T298S|LY9_ENST00000392203.4_Missense_Mutation_p.T298S			Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	298	Ig-like V-type 2.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			AGAAGCAGCAACGGCAGATCC	0.522																																																	0								ENSG00000122224						110.0	93.0	99.0					1																	160784371		2203	4300	6503	LY9	SO:0001583	missense	0			-	HGNC	L42621	CCDS30916.1, CCDS30917.1, CCDS65695.1, CCDS65696.1	1q23.3	2013-01-11			ENSG00000122224	ENSG00000122224		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6730	protein-coding gene	gene with protein product		600684				8537117, 7797269	Standard	NM_001261457		Approved	CD229, mLY9, SLAMF3, hly9	uc001fwu.4	Q9HBG7	OTTHUMG00000024007	ENST00000263285.6:c.892A>T	1.37:g.160784371A>T	ENSP00000263285:p.Thr298Ser	Somatic	0	55	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51	A8K7N3|Q14775|Q5VYI3|Q6P2J4|Q9H4N5|Q9NQ24	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	smart_Ig_sub,pfscan_Ig-like_dom	p.T298S	ENST00000263285.6	37	c.892	CCDS30916.1	1	.	.	.	.	.	.	.	.	.	.	A	13.14	2.146934	0.37923	.	.	ENSG00000122224	ENST00000368041;ENST00000341032;ENST00000263285;ENST00000542780;ENST00000392203;ENST00000368037;ENST00000368036	T;T	0.01538	4.79;4.79	3.61	0.959	0.19624	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.01976	0.0062	M	0.80183	2.485	0.09310	N	0.999993	D;D;P;P;D;D	0.61697	0.982;0.982;0.888;0.905;0.99;0.982	P;P;B;B;P;P	0.55087	0.591;0.591;0.287;0.197;0.768;0.591	T	0.43310	-0.9399	9	0.39692	T	0.17	-4.9022	3.3406	0.07116	0.629:0.2393:0.1317:0.0	.	298;258;258;298;298;298	B4E0J5;Q5VYH7;Q5VYH9;E7EME5;Q9HBG7-2;Q9HBG7	.;.;.;.;.;LY9_HUMAN	S	298;298;298;298;258;258;200	ENSP00000342921:T298S;ENSP00000263285:T298S	ENSP00000263285:T298S	T	+	1	0	LY9	159050995	0.005000	0.15991	0.055000	0.19348	0.018000	0.09664	0.382000	0.20635	0.515000	0.28320	0.460000	0.39030	ACG	-	smart_Ig_sub		0.522	LY9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LY9	protein_coding	OTTHUMT00000060457.3	A	NM_002348	-		160784371	+1	no_errors	ENST00000263285	ensembl	human	known	74_37	missense	SNP	0.072	T
OR8S1	341568	genome.wustl.edu	37	12	48920302	48920302	+	Splice_Site	SNP	G	G	A			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr12:48920302G>A	ENST00000310194.1	+	1	888	c.888G>A	c.(886-888)aaG>aaA	p.K296K	OR8S1_ENST00000551654.1_Intron	NM_001005203.2	NP_001005203.2	Q8NH09	OR8S1_HUMAN	olfactory receptor, family 8, subfamily S, member 1	296						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						AGGAAGTGAAGGTAGCTCTGA	0.423																																																	0								ENSG00000197376						41.0	43.0	42.0					12																	48920302		2203	4300	6503	OR8S1	SO:0001630	splice_region_variant	0			-	HGNC		CCDS31789.1	12q13.2	2012-08-09				ENSG00000197376		"""GPCR / Class A : Olfactory receptors"""	19628	protein-coding gene	gene with protein product							Standard	NM_001005203		Approved		uc010slu.2	Q8NH09		ENST00000310194.1:c.888+1G>A	12.37:g.48920302G>A		Somatic	0	60	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	32	31.91		Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.K296	ENST00000310194.1	37	c.888	CCDS31789.1	12																																																																																			-	prints_GPCR_Rhodpsn		0.423	OR8S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8S1	protein_coding	OTTHUMT00000406881.1	G		-	Silent	48920302	+1	no_errors	ENST00000310194	ensembl	human	known	74_37	silent	SNP	0.600	A
KCNQ5	56479	genome.wustl.edu	37	6	73843173	73843173	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr6:73843173G>A	ENST00000370398.1	+	10	1386	c.1277G>A	c.(1276-1278)cGc>cAc	p.R426H	KCNQ5_ENST00000342056.2_Missense_Mutation_p.R445H|KCNQ5_ENST00000355635.3_Missense_Mutation_p.R427H|KCNQ5_ENST00000403813.2_Missense_Mutation_p.R417H|KCNQ5_ENST00000402622.2_Missense_Mutation_p.R436H|KCNQ5_ENST00000355194.4_Missense_Mutation_p.R426H|KCNQ5-AS1_ENST00000429832.1_RNA|KCNQ5_ENST00000414165.2_Intron	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	426					protein complex assembly (GO:0006461)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)	p.R426H(1)		breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Ezogabine(DB04953)	GAGCGAGTGCGCATGGCTAGC	0.512																																					GBM(142;1375 1859 14391 23261 44706)												1	Substitution - Missense(1)	lung(1)						ENSG00000185760						67.0	70.0	69.0					6																	73843173		2203	4300	6503	KCNQ5	SO:0001583	missense	0			-	HGNC	AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6299	protein-coding gene	gene with protein product		607357				10787416, 10816588, 16382104	Standard	NM_019842		Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000370398.1:c.1277G>A	6.37:g.73843173G>A	ENSP00000359425:p.Arg426His	Somatic	0	16	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	14	30.00	A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	p.R436H	ENST00000370398.1	37	c.1307	CCDS4976.1	6	.	.	.	.	.	.	.	.	.	.	G	30	5.053340	0.93793	.	.	ENSG00000185760	ENST00000342056;ENST00000451840;ENST00000355194;ENST00000370398;ENST00000402622;ENST00000355635;ENST00000403813	D;D;D;D;D;D	0.99418	-5.87;-5.82;-5.81;-5.82;-5.87;-5.83	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	D	0.99245	0.9737	L	0.53249	1.67	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.74348	0.983;0.943;0.975;0.962	D	0.99490	1.0950	10	0.34782	T	0.22	.	18.1396	0.89634	0.0:0.0:1.0:0.0	.	436;445;417;426	Q9NR82-3;A6PVT6;Q9NR82-2;Q9NR82	.;.;.;KCNQ5_HUMAN	H	445;445;426;426;436;427;417	ENSP00000345055:R445H;ENSP00000347326:R426H;ENSP00000359425:R426H;ENSP00000385501:R436H;ENSP00000347853:R427H;ENSP00000384453:R417H	ENSP00000345055:R445H	R	+	2	0	KCNQ5	73899894	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.601000	0.82783	2.797000	0.96272	0.563000	0.77884	CGC	-	NULL		0.512	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KCNQ5	protein_coding	OTTHUMT00000041198.3	G	NM_019842	-		73843173	+1	no_errors	ENST00000402622	ensembl	human	known	74_37	missense	SNP	1.000	A
MYH13	8735	genome.wustl.edu	37	17	10225010	10225010	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr17:10225010C>A	ENST00000418404.3	-	23	3113	c.2950G>T	c.(2950-2952)Gaa>Taa	p.E984*	RP11-401O9.3_ENST00000577743.1_RNA|MYH13_ENST00000252172.4_Nonsense_Mutation_p.E984*			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	984					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.E984*(2)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GTCATTTCTTCGGAAAGATTC	0.383																																																	2	Substitution - Nonsense(2)	kidney(2)						ENSG00000006788						124.0	107.0	112.0					17																	10225010		1825	4085	5910	MYH13	SO:0001587	stop_gained	0			-	HGNC	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.2950G>T	17.37:g.10225010C>A	ENSP00000404570:p.Glu984*	Somatic	0	72	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51	O95252|Q9P0U8	Nonsense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.E984*	ENST00000418404.3	37	c.2950	CCDS45613.1	17	.	.	.	.	.	.	.	.	.	.	C	44	10.619036	0.99438	.	.	ENSG00000006788	ENST00000252172;ENST00000418404	.	.	.	4.16	4.16	0.48862	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	17.0067	0.86395	0.0:1.0:0.0:0.0	.	.	.	.	X	984;610	.	ENSP00000252172:E984X	E	-	1	0	MYH13	10165735	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	7.480000	0.81109	2.309000	0.77851	0.561000	0.74099	GAA	-	NULL		0.383	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	MYH13	protein_coding	OTTHUMT00000442255.1	C	NM_003802	-		10225010	-1	no_errors	ENST00000252172	ensembl	human	known	74_37	nonsense	SNP	1.000	A
TSNARE1	203062	genome.wustl.edu	37	8	143395764	143395764	+	Missense_Mutation	SNP	G	G	A	rs373787442		TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr8:143395764G>A	ENST00000307180.3	-	9	1229	c.1112C>T	c.(1111-1113)gCg>gTg	p.A371V	TSNARE1_ENST00000524325.1_Missense_Mutation_p.A370V|TSNARE1_ENST00000520166.1_Missense_Mutation_p.A370V|TSNARE1_ENST00000518928.1_5'UTR|TSNARE1_ENST00000519651.1_Missense_Mutation_p.A151V	NM_145003.3	NP_659440.2	Q96NA8	TSNA1_HUMAN	t-SNARE domain containing 1	371					intracellular protein transport (GO:0006886)|synaptic vesicle exocytosis (GO:0016079)	integral component of membrane (GO:0016021)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)|SNARE binding (GO:0000149)			breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GCCCCTCTGCGCCATGGGAAG	0.532																																																	0								ENSG00000171045	G	VAL/ALA	0,4406		0,0,2203	71.0	64.0	66.0		1112	4.3	0.0	8		66	1,8599	1.2+/-3.3	0,1,4299	no	missense	TSNARE1	NM_145003.3	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	371/514	143395764	1,13005	2203	4300	6503	TSNARE1	SO:0001583	missense	0			-	HGNC			8q24.3	2005-08-18							26437	protein-coding gene	gene with protein product						14702039	Standard	XM_005250828		Approved	FLJ31164	uc003ywk.3	Q96NA8		ENST00000307180.3:c.1112C>T	8.37:g.143395764G>A	ENSP00000303437:p.Ala371Val	Somatic	0	63	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	21	34.38	B7ZLB0|Q14D03	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_T_SNARE_dom,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom	p.A371V	ENST00000307180.3	37	c.1112	CCDS6384.1	8	.	.	.	.	.	.	.	.	.	.	G	10.72	1.430382	0.25726	0.0	1.16E-4	ENSG00000171045	ENST00000524325;ENST00000307180;ENST00000520166;ENST00000519651	T;T;T;T	0.22743	1.94;1.94;1.94;1.94	4.27	4.27	0.50696	t-SNARE (1);	0.000000	0.32273	U	0.006337	T	0.34571	0.0902	M	0.67953	2.075	0.09310	N	1	D;D;D;D	0.65815	0.995;0.994;0.995;0.995	P;P;P;P	0.54815	0.761;0.574;0.761;0.761	T	0.12837	-1.0532	10	0.40728	T	0.16	.	12.201	0.54326	0.0:0.0:1.0:0.0	.	370;151;371;371	B7ZLB0;E5RHT3;Q96NA8;A0AVG3	.;.;TSNA1_HUMAN;.	V	370;371;370;151	ENSP00000428763:A370V;ENSP00000303437:A371V;ENSP00000427770:A370V;ENSP00000429679:A151V	ENSP00000303437:A371V	A	-	2	0	TSNARE1	143393671	0.000000	0.05858	0.031000	0.17742	0.129000	0.20672	0.472000	0.22116	1.915000	0.55452	0.655000	0.94253	GCG	-	superfamily_t-SNARE		0.532	TSNARE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TSNARE1	protein_coding		G	NM_145003	-		143395764	-1	no_errors	ENST00000307180	ensembl	human	known	74_37	missense	SNP	0.009	A
MRGPRX1	259249	genome.wustl.edu	37	11	18956293	18956293	+	Silent	SNP	T	T	G			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr11:18956293T>G	ENST00000302797.3	-	1	263	c.39A>C	c.(37-39)acA>acC	p.T13T	MRGPRX1_ENST00000526914.1_5'UTR|RP11-583F24.8_ENST00000528646.1_RNA	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	13					acute-phase response (GO:0006953)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CGTTGATTGGTGTCAGTTCTG	0.517																																																	0								ENSG00000170255						273.0	260.0	264.0					11																	18956293		2194	4286	6480	MRGPRX1	SO:0001819	synonymous_variant	0			-	HGNC		CCDS7846.1	11p15.1	2013-10-10			ENSG00000170255	ENSG00000170255		"""GPCR / Class A : Orphans"""	17962	protein-coding gene	gene with protein product		607227				11551509	Standard	NM_147199		Approved	MRGX1	uc001mpg.3	Q96LB2	OTTHUMG00000162655	ENST00000302797.3:c.39A>C	11.37:g.18956293T>G		Somatic	0	76	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	67	10.67	Q4V9L2|Q8TDD8|Q8TDD9	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.T13	ENST00000302797.3	37	c.39	CCDS7846.1	11																																																																																			-	NULL		0.517	MRGPRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRGPRX1	protein_coding	OTTHUMT00000369913.1	T	NM_147199	-		18956293	-1	no_errors	ENST00000302797	ensembl	human	known	74_37	silent	SNP	0.001	G
CENPM	79019	genome.wustl.edu	37	22	42335197	42335197	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr22:42335197C>T	ENST00000215980.5	-	6	493	c.406G>A	c.(406-408)Gaa>Aaa	p.E136K	CENPM_ENST00000404067.1_Missense_Mutation_p.G71E|CENPM_ENST00000407253.3_Missense_Mutation_p.G105E|CENPM_ENST00000402420.1_3'UTR|CENPM_ENST00000472374.2_Missense_Mutation_p.E14K|CENPM_ENST00000402338.1_Missense_Mutation_p.E102K	NM_024053.3	NP_076958.1	Q9NSP4	CENPM_HUMAN	centromere protein M	136					mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleus (GO:0005634)				kidney(1)|large_intestine(1)|prostate(1)	3						CTAAAGCCTTCCACCTGCGGG	0.657																																																	0								ENSG00000100162						20.0	19.0	20.0					22																	42335197		2195	4297	6492	CENPM	SO:0001583	missense	0			-	HGNC	BC000705	CCDS14025.1, CCDS46719.1, CCDS46720.1	22q13.2	2013-11-05	2006-06-15	2006-06-15	ENSG00000100162	ENSG00000100162			18352	protein-coding gene	gene with protein product		610152	"""chromosome 22 open reading frame 18"""	C22orf18		16622420, 16622419	Standard	NM_001110215		Approved	Pane1, CENP-M, MGC861	uc003bbn.3	Q9NSP4	OTTHUMG00000151277	ENST00000215980.5:c.406G>A	22.37:g.42335197C>T	ENSP00000215980:p.Glu136Lys	Somatic	0	21	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	6	33.33	A7LM22|B1AHQ9|Q6I9W3	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Centromere_Cenp-M	p.E136K	ENST00000215980.5	37	c.406	CCDS14025.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.8|23.8	4.457046|4.457046	0.84317|0.84317	.|.	.|.	ENSG00000100162|ENSG00000100162	ENST00000215980;ENST00000472374;ENST00000402338|ENST00000404067;ENST00000407253	.|.	.|.	.|.	4.39|4.39	3.28|3.28	0.37604|0.37604	.|.	0.373354|.	0.30060|.	N|.	0.010511|.	T|T	0.68705|0.68705	0.3030|0.3030	M|M	0.63843|0.63843	1.955|1.955	0.52501|0.52501	D|D	0.999954|0.999954	P;B|D	0.50156|0.76494	0.932;0.011|0.999	P;B|D	0.47827|0.70487	0.558;0.026|0.969	T|T	0.70447|0.70447	-0.4869|-0.4869	9|8	0.51188|0.72032	T|D	0.08|0.01	-15.2565|-15.2565	9.0541|9.0541	0.36394|0.36394	0.2191:0.7809:0.0:0.0|0.2191:0.7809:0.0:0.0	.|.	14;136|105	Q9NSP4-3;Q9NSP4|B1AHQ9	.;CENPM_HUMAN|.	K|E	136;14;102|71;105	.|.	ENSP00000215980:E136K|ENSP00000384814:G71E	E|G	-|-	1|2	0|0	CENPM|CENPM	40665143|40665143	0.032000|0.032000	0.19561|0.19561	0.961000|0.961000	0.40146|0.40146	0.528000|0.528000	0.34623|0.34623	1.179000|1.179000	0.31993|0.31993	2.180000|2.180000	0.69256|0.69256	0.561000|0.561000	0.74099|0.74099	GAA|GGA	-	pfam_Centromere_Cenp-M		0.657	CENPM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPM	protein_coding	OTTHUMT00000322058.1	C	NM_024053	-		42335197	-1	no_errors	ENST00000215980	ensembl	human	known	74_37	missense	SNP	0.473	T
ZNF544	27300	genome.wustl.edu	37	19	58772852	58772852	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr19:58772852G>T	ENST00000596652.1	+	6	1114	c.880G>T	c.(880-882)Ggg>Tgg	p.G294W	ZNF544_ENST00000596929.1_Intron|CTD-3138B18.5_ENST00000597230.1_RNA|ZNF544_ENST00000269829.4_Missense_Mutation_p.G294W|ZNF544_ENST00000595981.1_Intron|CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000596825.1_3'UTR|ZNF544_ENST00000600044.1_Missense_Mutation_p.G266W|ZNF544_ENST00000599953.1_Missense_Mutation_p.G152W|ZNF544_ENST00000415203.2_Missense_Mutation_p.G266W|ZNF544_ENST00000599227.1_3'UTR|ZNF544_ENST00000600220.1_Missense_Mutation_p.G266W			Q6NX49	ZN544_HUMAN	zinc finger protein 544	294					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		AGTGCATTTTGGGAAAAGTCA	0.448																																																	0								ENSG00000198131						69.0	67.0	68.0					19																	58772852		2203	4300	6503	ZNF544	SO:0001583	missense	0			-	HGNC	AF020591	CCDS12973.1	19q13.43	2013-01-08				ENSG00000198131		"""Zinc fingers, C2H2-type"", ""-"""	16759	protein-coding gene	gene with protein product	"""zinc finger protein AF020591"""						Standard	NM_014480		Approved	AF020591	uc010euo.3	Q6NX49		ENST00000596652.1:c.880G>T	19.37:g.58772852G>T	ENSP00000469635:p.Gly294Trp	Somatic	0	52	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	20	13.04	A8K6J1|Q9UEX4	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	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.G294W	ENST00000596652.1	37	c.880	CCDS12973.1	19	.	.	.	.	.	.	.	.	.	.	G	12.53	1.965785	0.34659	.	.	ENSG00000198131	ENST00000269829;ENST00000415203	T;T	0.21734	1.99;1.99	2.69	0.324	0.15898	.	.	.	.	.	T	0.42291	0.1196	M	0.80332	2.49	0.22171	N	0.999314	D;D;D	0.89917	1.0;0.963;0.963	D;P;P	0.78314	0.991;0.64;0.64	T	0.16453	-1.0402	9	0.87932	D	0	.	6.0728	0.19899	0.3035:0.0:0.6965:0.0	.	266;266;294	B7ZAY1;B4DL50;Q6NX49	.;.;ZN544_HUMAN	W	294;266	ENSP00000269829:G294W;ENSP00000394341:G266W	ENSP00000269829:G294W	G	+	1	0	ZNF544	63464664	0.170000	0.23016	0.008000	0.14137	0.047000	0.14425	1.848000	0.39309	0.010000	0.14839	0.655000	0.94253	GGG	-	NULL		0.448	ZNF544-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF544	protein_coding	OTTHUMT00000466754.1	G	NM_014480	-		58772852	+1	no_errors	ENST00000269829	ensembl	human	known	74_37	missense	SNP	0.048	T
GPR87	53836	genome.wustl.edu	37	3	151011993	151011993	+	Silent	SNP	C	C	T			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr3:151011993C>T	ENST00000260843.4	-	3	1505	c.1041G>A	c.(1039-1041)tcG>tcA	p.S347S	MED12L_ENST00000474524.1_Intron|MED12L_ENST00000491549.1_Intron|MED12L_ENST00000273432.4_Intron	NM_023915.3	NP_076404.3	Q9BY21	GPR87_HUMAN	G protein-coupled receptor 87	347					negative regulation of adenylate cyclase activity (GO:0007194)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			endometrium(6)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	19			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TGCGAACTTCCGATCTTCTCA	0.338																																																	0								ENSG00000138271						155.0	157.0	156.0					3																	151011993		2203	4300	6503	GPR87	SO:0001819	synonymous_variant	0			-	HGNC	AF237763	CCDS3157.1	3q24	2012-08-21			ENSG00000138271	ENSG00000138271		"""GPCR / Class A : Orphans"""	4538	protein-coding gene	gene with protein product		606379		GPR95		11273702	Standard	NM_023915		Approved		uc003eyt.2	Q9BY21	OTTHUMG00000159858	ENST00000260843.4:c.1041G>A	3.37:g.151011993C>T		Somatic	0	46	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	9	75.68	Q5KU35|Q96JZ8|Q9BXC2	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_P2Y13_rcpt,prints_P2Y14_rcpt	p.S347	ENST00000260843.4	37	c.1041	CCDS3157.1	3																																																																																			-	NULL		0.338	GPR87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR87	protein_coding	OTTHUMT00000357788.1	C		-		151011993	-1	no_errors	ENST00000260843	ensembl	human	known	74_37	silent	SNP	0.001	T
PAFAH2	5051	genome.wustl.edu	37	1	26303191	26303191	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr1:26303191G>A	ENST00000374282.3	-	8	919	c.740C>T	c.(739-741)gCc>gTc	p.A247V	PAFAH2_ENST00000374284.1_Missense_Mutation_p.A247V	NM_000437.3	NP_000428.2	Q99487	PAFA2_HUMAN	platelet-activating factor acetylhydrolase 2, 40kDa	247					lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)	cytoplasm (GO:0005737)	1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)|phospholipid binding (GO:0005543)			NS(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1)	9		Colorectal(325;3.47e-05)|Lung NSC(340;6.23e-05)|all_lung(284;9.48e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-25)|Colorectal(126;3.57e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00155)|GBM - Glioblastoma multiforme(114;0.00717)|READ - Rectum adenocarcinoma(331;0.0649)		GGTCTCCTTGGCCAAAGCCAG	0.453																																																	0								ENSG00000158006						100.0	86.0	91.0					1																	26303191		2203	4300	6503	PAFAH2	SO:0001583	missense	0			-	HGNC	D87845	CCDS270.1	1p34.3	2008-09-19	2002-08-29		ENSG00000158006	ENSG00000158006			8579	protein-coding gene	gene with protein product		602344	"""platelet-activating factor acetylhydrolase 2 (40kD)"""			8955149, 9494101	Standard	NM_000437		Approved	HSD-PLA2	uc001bld.4	Q99487	OTTHUMG00000007437	ENST00000374282.3:c.740C>T	1.37:g.26303191G>A	ENSP00000363400:p.Ala247Val	Somatic	0	61	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	26	13.33	D3DPK1|O15458|Q5SY02	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_PAF_acetylhydro,pfam_Peptidase_S9,pirsf_PAF_acetylhydro_eukaryote	p.A247V	ENST00000374282.3	37	c.740	CCDS270.1	1	.	.	.	.	.	.	.	.	.	.	G	8.679	0.904670	0.17760	.	.	ENSG00000158006	ENST00000374282;ENST00000374284	T;T	0.54071	0.59;0.59	5.2	3.28	0.37604	.	0.513309	0.19263	N	0.118640	T	0.38081	0.1027	L	0.43152	1.355	0.25226	N	0.989866	B	0.13145	0.007	B	0.12837	0.008	T	0.22277	-1.0221	10	0.15952	T	0.53	-3.2623	5.9289	0.19128	0.1646:0.3006:0.5348:0.0	.	247	Q99487	PAFA2_HUMAN	V	247	ENSP00000363400:A247V;ENSP00000363402:A247V	ENSP00000363400:A247V	A	-	2	0	PAFAH2	26175778	0.463000	0.25799	0.997000	0.53966	0.233000	0.25261	0.453000	0.21811	0.664000	0.31047	0.313000	0.20887	GCC	-	pfam_PAF_acetylhydro,pfam_Peptidase_S9,pirsf_PAF_acetylhydro_eukaryote		0.453	PAFAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAFAH2	protein_coding	OTTHUMT00000019544.1	G	NM_000437	-		26303191	-1	no_errors	ENST00000374282	ensembl	human	known	74_37	missense	SNP	0.999	A
ASIC4	55515	genome.wustl.edu	37	2	220379808	220379808	+	Missense_Mutation	SNP	A	A	G			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr2:220379808A>G	ENST00000347842.3	+	1	757	c.743A>G	c.(742-744)aAc>aGc	p.N248S	AC053503.11_ENST00000429882.1_RNA|ASIC4_ENST00000358078.4_Missense_Mutation_p.N248S	NM_182847.2	NP_878267.2	Q96FT7	ASIC4_HUMAN	acid-sensing (proton-gated) ion channel family member 4	248					ion transmembrane transport (GO:0034220)|sodium ion transmembrane transport (GO:0035725)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)	ion channel activity (GO:0005216)|sodium channel activity (GO:0005272)|sodium ion transmembrane transporter activity (GO:0015081)										TGCAATATCAACCGCTTCCGG	0.682																																																	0								ENSG00000072182						33.0	32.0	32.0					2																	220379808		2203	4300	6503	ASIC4	SO:0001583	missense	0			-	HGNC	AJ271643	CCDS2442.1	2q36.1	2012-02-22	2012-02-22	2012-02-22	ENSG00000072182	ENSG00000072182		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	21263	protein-coding gene	gene with protein product		606715	"""amiloride-sensitive cation channel 4, pituitary"", ""amiloride-sensitive cation channel family member 4, pituitary"""	ACCN4		10852210	Standard	NM_182847		Approved	BNAC4	uc002vma.3	Q96FT7	OTTHUMG00000058928	ENST00000347842.3:c.743A>G	2.37:g.220379808A>G	ENSP00000326627:p.Asn248Ser	Somatic	0	26	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	22	21.43	Q53SB7|Q6GMS1|Q6PIN9|Q9NQA4	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Na+channel_ASC,prints_Na+channel_ASC	p.N248S	ENST00000347842.3	37	c.743	CCDS2442.1	2	.	.	.	.	.	.	.	.	.	.	A	20.3	3.964234	0.74131	.	.	ENSG00000072182	ENST00000347842;ENST00000358078	T;T	0.69806	-0.43;-0.43	4.69	4.69	0.59074	.	0.262077	0.35739	N	0.003011	D	0.83700	0.5311	M	0.88570	2.965	0.58432	D	0.999997	D;D;D	0.89917	0.997;1.0;0.998	D;D;D	0.91635	0.994;0.999;0.987	D	0.87051	0.2147	10	0.72032	D	0.01	-25.0108	13.9981	0.64414	1.0:0.0:0.0:0.0	.	248;248;248	Q96FT7;Q96FT7-4;Q96FT7-2	ACCN4_HUMAN;.;.	S	248	ENSP00000326627:N248S;ENSP00000350786:N248S	ENSP00000326627:N248S	N	+	2	0	ACCN4	220088052	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	9.119000	0.94362	1.969000	0.57287	0.533000	0.62120	AAC	-	pfam_Na+channel_ASC,prints_Na+channel_ASC		0.682	ASIC4-001	KNOWN	basic|CCDS	protein_coding	ASIC4	protein_coding	OTTHUMT00000130263.1	A	NM_018674	-		220379808	+1	no_errors	ENST00000347842	ensembl	human	known	74_37	missense	SNP	1.000	G
PTPRG	5793	genome.wustl.edu	37	3	61975440	61975440	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr3:61975440C>T	ENST00000474889.1	+	3	709	c.332C>T	c.(331-333)tCt>tTt	p.S111F	PTPRG_ENST00000295874.10_Missense_Mutation_p.S111F	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	111	Alpha-carbonic anhydrase.				brain development (GO:0007420)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of neuron projection development (GO:0010977)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		GACAATGAGTCTTCTAACAAA	0.453																																																	0								ENSG00000144724						94.0	86.0	89.0					3																	61975440		2203	4300	6503	PTPRG	SO:0001583	missense	0			-	HGNC	L09247	CCDS2895.1	3p21-p14	2013-02-11			ENSG00000144724	ENSG00000144724		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9671	protein-coding gene	gene with protein product		176886		PTPG		1711217	Standard	NM_002841		Approved	RPTPG	uc003dlb.3	P23470	OTTHUMG00000158660	ENST00000474889.1:c.332C>T	3.37:g.61975440C>T	ENSP00000418112:p.Ser111Phe	Somatic	0	84	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	45	23.73	B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt	p.S111F	ENST00000474889.1	37	c.332	CCDS2895.1	3	.	.	.	.	.	.	.	.	.	.	C	28.3	4.908775	0.92107	.	.	ENSG00000144724	ENST00000474889;ENST00000295874	T;T	0.68181	-0.31;-0.31	5.92	5.92	0.95590	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.113799	0.64402	D	0.000008	T	0.78710	0.4326	L	0.42632	1.34	0.80722	D	1	D;D	0.76494	0.999;0.99	D;D	0.83275	0.996;0.916	T	0.78989	-0.1986	10	0.87932	D	0	.	20.2995	0.98608	0.0:1.0:0.0:0.0	.	111;111	P23470-2;P23470	.;PTPRG_HUMAN	F	111	ENSP00000418112:S111F;ENSP00000295874:S111F	ENSP00000295874:S111F	S	+	2	0	PTPRG	61950480	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	7.433000	0.80362	2.799000	0.96334	0.655000	0.94253	TCT	-	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a		0.453	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRG	protein_coding	OTTHUMT00000351674.1	C	NM_002841	-		61975440	+1	no_errors	ENST00000474889	ensembl	human	known	74_37	missense	SNP	1.000	T
NPHS1	4868	genome.wustl.edu	37	19	36340496	36340496	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr19:36340496G>T	ENST00000378910.5	-	6	667	c.668C>A	c.(667-669)gCa>gAa	p.A223E	NPHS1_ENST00000591817.1_5'Flank|NPHS1_ENST00000353632.6_Missense_Mutation_p.A223E	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	223	Ig-like C2-type 2.				cell adhesion (GO:0007155)|excretion (GO:0007588)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell development (GO:0072015)|JNK cascade (GO:0007254)|myoblast fusion (GO:0007520)|positive regulation of actin filament polymerization (GO:0030838)|regulation of excretion (GO:0044062)|skeletal muscle tissue development (GO:0007519)	cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)	myosin binding (GO:0017022)			NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGCCTCCAGTGCTGGGCTAGA	0.572																																																	0								ENSG00000161270						80.0	76.0	77.0					19																	36340496		2203	4300	6503	NPHS1	SO:0001583	missense	0			-	HGNC		CCDS32996.1	19q12-q13.1	2014-09-17				ENSG00000161270		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7908	protein-coding gene	gene with protein product		602716				9915943, 9660941	Standard	NM_004646		Approved	CNF, NPHN	uc002oby.3	O60500		ENST00000378910.5:c.668C>A	19.37:g.36340496G>T	ENSP00000368190:p.Ala223Glu	Somatic	0	17	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	11	65.62	A6NDH2|C3RX61	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_CD80_C2-set,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.A223E	ENST00000378910.5	37	c.668	CCDS32996.1	19	.	.	.	.	.	.	.	.	.	.	G	20.4	3.987178	0.74589	.	.	ENSG00000161270	ENST00000378910;ENST00000353632	T;T	0.76839	-1.05;-1.05	5.53	5.53	0.82687	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like fold (1);	0.110837	0.64402	D	0.000011	D	0.84817	0.5556	L	0.59436	1.845	0.58432	D	0.999997	D	0.71674	0.998	P	0.61275	0.886	D	0.86146	0.1584	10	0.87932	D	0	-4.515	16.9419	0.86220	0.0:0.0:1.0:0.0	.	223	O60500	NPHN_HUMAN	E	223	ENSP00000368190:A223E;ENSP00000343634:A223E	ENSP00000343634:A223E	A	-	2	0	NPHS1	41032336	1.000000	0.71417	0.984000	0.44739	0.360000	0.29518	4.683000	0.61679	2.607000	0.88179	0.591000	0.81541	GCA	-	pfam_CD80_C2-set		0.572	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPHS1	protein_coding	OTTHUMT00000452553.1	G		-		36340496	-1	no_errors	ENST00000378910	ensembl	human	known	74_37	missense	SNP	0.990	T
SGCD	6444	genome.wustl.edu	37	5	155771523	155771523	+	Missense_Mutation	SNP	C	C	A			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr5:155771523C>A	ENST00000435422.3	+	2	512	c.25C>A	c.(25-27)Cac>Aac	p.H9N	SGCD_ENST00000337851.4_Missense_Mutation_p.H10N|SGCD_ENST00000517913.1_Missense_Mutation_p.H10N|SGCD_ENST00000447401.1_Missense_Mutation_p.H10N	NM_001128209.1	NP_001121681.1	Q92629	SGCD_HUMAN	sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)	9					muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1)	24	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTACACTCACCACCGGAGCAC	0.473																																																	0								ENSG00000170624						108.0	108.0	108.0					5																	155771523		1949	4165	6114	SGCD	SO:0001583	missense	0			-	HGNC	BX537948	CCDS47325.1, CCDS47326.1, CCDS47327.1	5q33-q34	2014-09-17	2002-08-29						10807	protein-coding gene	gene with protein product		601411	"""sarcoglycan, delta (35kD dystrophin-associated glycoprotein)"""			8776597, 8841194, 10974018	Standard	NM_000337		Approved	DAGD, LGMD2F, CMD1L	uc003lwd.4	Q92629		ENST00000435422.3:c.25C>A	5.37:g.155771523C>A	ENSP00000403003:p.His9Asn	Somatic	0	59	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	19	13.64	A8K9S9|Q53XA5|Q99644	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Sarcoglycan	p.H10N	ENST00000435422.3	37	c.28	CCDS47327.1	5	.	.	.	.	.	.	.	.	.	.	C	14.04	2.417588	0.42918	.	.	ENSG00000170624	ENST00000517913;ENST00000435422;ENST00000337851;ENST00000447401	T;D;D;T	0.85556	1.55;-2.0;-2.0;1.55	5.06	4.13	0.48395	.	0.103009	0.64402	D	0.000004	T	0.72606	0.3481	N	0.22421	0.69	0.36543	D	0.871386	B;B;B	0.14012	0.005;0.009;0.0	B;B;B	0.12156	0.003;0.007;0.001	T	0.68500	-0.5392	10	0.19147	T	0.46	-0.7468	9.8192	0.40871	0.219:0.781:0.0:0.0	.	9;10;10	Q92629;Q92629-2;Q92629-3	SGCD_HUMAN;.;.	N	10;9;10;10	ENSP00000429378:H10N;ENSP00000403003:H9N;ENSP00000338343:H10N;ENSP00000408324:H10N	ENSP00000338343:H10N	H	+	1	0	SGCD	155704101	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.840000	0.39230	2.625000	0.88918	0.655000	0.94253	CAC	-	NULL		0.473	SGCD-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SGCD	protein_coding	OTTHUMT00000373469.3	C		-		155771523	+1	no_errors	ENST00000337851	ensembl	human	known	74_37	missense	SNP	1.000	A
KIAA2012	100652824	genome.wustl.edu	37	2	202970606	202970606	+	Missense_Mutation	SNP	G	G	T	rs148061961		TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr2:202970606G>T	ENST00000541917.1	+	9	1820	c.1447G>T	c.(1447-1449)Gcg>Tcg	p.A483S	AC079354.1_ENST00000409515.3_3'UTR|AC079354.1_ENST00000295844.3_Missense_Mutation_p.A539S																							CCCAGTGGACGCGAGCAGGGA	0.562																																																	0								ENSG00000182329																																			AC079354.1	SO:0001583	missense	0			-	Clone_based_vega_gene																												ENST00000541917.1:c.1447G>T	2.37:g.202970606G>T	ENSP00000437957:p.Ala483Ser	Somatic	0	48	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	9.09		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.A483S	ENST00000541917.1	37	c.1447		2	.	.	.	.	.	.	.	.	.	.	G	2.667	-0.278427	0.05679	.	.	ENSG00000182329	ENST00000541917;ENST00000295844;ENST00000498697	.	.	.	3.68	-7.35	0.01422	.	1.359360	0.04948	N	0.459829	T	0.12817	0.0311	N	0.11427	0.14	0.09310	N	1	B;B	0.17038	0.02;0.002	B;B	0.14578	0.011;0.004	T	0.18650	-1.0330	9	0.09843	T	0.71	0.0187	1.7875	0.03044	0.4355:0.1325:0.3017:0.1303	.	483;539	B4DIH8;E7EP55	.;.	S	483;539;103	.	ENSP00000295844:A539S	A	+	1	0	AC079354.1	202678851	0.001000	0.12720	0.015000	0.15790	0.092000	0.18411	-0.552000	0.06020	-1.299000	0.02344	-1.697000	0.00723	GCG	-	NULL		0.562	AC079354.1-201	KNOWN	basic|appris_principal	protein_coding	LOC100652824	protein_coding		G		-		202970606	+1	no_errors	ENST00000541917	ensembl	human	known	74_37	missense	SNP	0.017	T
CROCCP3	114819	genome.wustl.edu	37	1	16810805	16810822	+	RNA	DEL	GGCCTCGGCGGGGTGAAC	GGCCTCGGCGGGGTGAAC	-	rs374658434|rs148540984	byFrequency	TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	GGCCTCGGCGGGGTGAAC	GGCCTCGGCGGGGTGAAC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr1:16810805_16810822delGGCCTCGGCGGGGTGAAC	ENST00000263511.4	-	0	1709_1726					NR_023386.1		Q8IVE0	CROL2_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 3						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											GCCGGGGAGGGGCCTCGGCGGGGTGAACGGCCTCGGCC	0.716														2731	0.545327	0.2821	0.4294	5008	,	,		9595	0.9395		0.5268	False		,,,				2504	0.5961																0								ENSG00000080947																																			CROCCP3			0				HGNC	AB067509		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000080947	ENSG00000080947			29405	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 2"""	CROCCL2		11572484	Standard	NR_023386		Approved	KIAA1922	uc001ayt.2	Q8IVE0	OTTHUMG00000037885		1.37:g.16810805_16810822delGGCCTCGGCGGGGTGAAC		Somatic	NA	NA	NA		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	Q96PW6	RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000263511.4	37	NULL		1																																																																																			-	-		0.716	CROCCP3-002	KNOWN	basic	processed_transcript	CROCCP3	pseudogene	OTTHUMT00000458172.1	GGCCTCGGCGGGGTGAAC	XM_057040			16810822	-1	no_errors	ENST00000263511	ensembl	human	known	74_37	rna	DEL	0.994:0.998:0.998:0.998:0.998:1.000:1.000:1.000:1.000:0.996:0.986:0.999:1.000:0.996:1.000:1.000:1.000:1.000	-
F11R	50848	genome.wustl.edu	37	1	160969677	160969677	+	Missense_Mutation	SNP	C	C	A	rs147266047		TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr1:160969677C>A	ENST00000368026.6	-	6	957	c.683G>T	c.(682-684)cGc>cTc	p.R228L	F11R_ENST00000289779.3_3'UTR|F11R_ENST00000537746.1_Missense_Mutation_p.R179L|F11R_ENST00000472573.1_5'Flank	NM_016946.4	NP_058642.1	Q9Y624	JAM1_HUMAN	F11 receptor	228	Ig-like V-type 2.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|leukocyte migration (GO:0050900)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)	12	all_cancers(52;6.73e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00207)			AGCTTCCATGCGCACAGCATT	0.542																																																	0								ENSG00000158769						88.0	82.0	84.0					1																	160969677		2203	4300	6503	F11R	SO:0001583	missense	0			-	HGNC	AF111713	CCDS1213.1	1q21.2-q21.3	2013-01-29	2003-02-07	2003-02-14	ENSG00000158769	ENSG00000158769		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14685	protein-coding gene	gene with protein product		605721	"""junctional adhesion molecule 1"""	JAM1		10395639, 7646439	Standard	NM_016946		Approved	PAM-1, JCAM, JAM-1, JAM-A, JAMA, CD321	uc009wtt.3	Q9Y624	OTTHUMG00000028602	ENST00000368026.6:c.683G>T	1.37:g.160969677C>A	ENSP00000357005:p.Arg228Leu	Somatic	0	48	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	35	9.76	B7Z941	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.R228L	ENST00000368026.6	37	c.683	CCDS1213.1	1	.	.	.	.	.	.	.	.	.	.	C	14.72	2.620273	0.46736	.	.	ENSG00000158769	ENST00000368026;ENST00000335772;ENST00000289779;ENST00000537746;ENST00000436182	T;T;T	0.69806	-0.43;-0.43;-0.43	5.41	-2.5	0.06384	Immunoglobulin-like (1);	0.844176	0.11061	N	0.603940	T	0.35189	0.0923	L	0.46947	1.48	0.21147	N	0.999772	P;P;P;P;P	0.43857	0.819;0.591;0.723;0.723;0.723	B;B;B;B;B	0.38712	0.141;0.28;0.108;0.108;0.108	T	0.29397	-1.0013	10	0.37606	T	0.19	.	10.2906	0.43594	0.0:0.3738:0.0:0.6262	.	232;179;228;228;228	B7Z5W1;B7Z941;Q6FIB4;Q9Y624;D3DVF0	.;.;.;JAM1_HUMAN;.	L	228;228;228;179;232	ENSP00000357005:R228L;ENSP00000440812:R179L;ENSP00000394809:R232L	ENSP00000289779:R228L	R	-	2	0	F11R	159236301	0.003000	0.15002	0.118000	0.21660	0.926000	0.56050	-1.382000	0.02546	-0.688000	0.05155	0.563000	0.77884	CGC	-	smart_Ig_sub,pfscan_Ig-like_dom		0.542	F11R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F11R	protein_coding	OTTHUMT00000071458.3	C	NM_016946	-		160969677	-1	no_errors	ENST00000368026	ensembl	human	known	74_37	missense	SNP	0.054	A
RNF4	6047	genome.wustl.edu	37	4	2513722	2513722	+	Intron	SNP	G	G	C			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr4:2513722G>C	ENST00000511600.1	+	5	1729				RNF4_ENST00000511843.1_Intron|RNF4_ENST00000541204.1_Intron|RNF4_ENST00000314289.8_Intron|RNF4_ENST00000506706.1_Intron|RNF4_ENST00000511859.1_Intron|RNF4_ENST00000509258.1_Missense_Mutation_p.V82L			P78317	RNF4_HUMAN	ring finger protein 4						androgen receptor signaling pathway (GO:0030521)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K11-linked ubiquitination (GO:0070979)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|protein K63-linked ubiquitination (GO:0070534)|regulation of kinetochore assembly (GO:0090234)|regulation of spindle assembly (GO:0090169)|response to arsenic-containing substance (GO:0046685)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|nucleosome binding (GO:0031491)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SUMO polymer binding (GO:0032184)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|lung(1)	5		all_epithelial(65;0.241)				TTTTCACTGGGTTTGGAGAGG	0.478																																																	0								ENSG00000063978						138.0	121.0	126.0					4																	2513722		1915	4136	6051	RNF4	SO:0001627	intron_variant	0			-	HGNC	U95140	CCDS47001.1, CCDS54713.1	4p16.3	2013-01-09				ENSG00000063978		"""RING-type (C3HC4) zinc fingers"""	10067	protein-coding gene	gene with protein product		602850				9479498	Standard	NM_001185009		Approved	RES4-26, SNURF, SLX5	uc003gfb.3	P78317		ENST00000511600.1:c.214+30G>C	4.37:g.2513722G>C		Somatic	0	36	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	B2R6D6|D6RF58|Q49AR8	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.V82L	ENST00000511600.1	37	c.244	CCDS47001.1	4	.	.	.	.	.	.	.	.	.	.	G	11.24	1.581195	0.28180	.	.	ENSG00000063978	ENST00000509258	.	.	.	4.29	2.55	0.30701	.	.	.	.	.	T	0.19846	0.0477	.	.	.	0.09310	N	0.999996	B	0.26147	0.143	B	0.20767	0.031	T	0.16453	-1.0402	6	.	.	.	.	6.0444	0.19752	0.2269:0.0:0.7731:0.0	.	82	D6RBZ1	.	L	82	.	.	V	+	1	0	RNF4	2483520	0.002000	0.14202	0.545000	0.28153	0.568000	0.35870	0.016000	0.13377	1.155000	0.42497	0.655000	0.94253	GTT	-	NULL		0.478	RNF4-005	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	RNF4	protein_coding	OTTHUMT00000360920.1	G	NM_002938	-		2513722	+1	no_errors	ENST00000509258	ensembl	human	novel	74_37	missense	SNP	0.066	C
HSPG2	3339	genome.wustl.edu	37	1	22206638	22206638	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr1:22206638G>T	ENST00000374695.3	-	17	2384	c.2305C>A	c.(2305-2307)Cat>Aat	p.H769N		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	769	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	GAGCTGGCATGGCCATTGCAA	0.557																																																	0								ENSG00000142798						55.0	57.0	56.0					1																	22206638		2203	4300	6503	HSPG2	SO:0001583	missense	0			-	HGNC	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.2305C>A	1.37:g.22206638G>T	ENSP00000363827:p.His769Asn	Somatic	0	28	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	5	61.54	Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA_dom,pfscan_Ig-like_dom,prints_LDrepeatLR_classA_rpt	p.H769N	ENST00000374695.3	37	c.2305	CCDS30625.1	1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.546436	0.86022	.	.	ENSG00000142798	ENST00000374695	T	0.65549	-0.16	5.38	5.38	0.77491	EGF-like, laminin (3);	0.000000	0.40908	D	0.000990	T	0.78470	0.4288	M	0.69523	2.12	0.58432	D	0.999999	D	0.69078	0.997	D	0.79108	0.992	T	0.80710	-0.1261	10	0.87932	D	0	.	16.6294	0.85029	0.0:0.0:1.0:0.0	.	769	P98160	PGBM_HUMAN	N	769	ENSP00000363827:H769N	ENSP00000363827:H769N	H	-	1	0	HSPG2	22079225	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	9.053000	0.93860	2.527000	0.85204	0.655000	0.94253	CAT	-	pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin		0.557	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPG2	protein_coding	OTTHUMT00000007598.1	G	NM_005529	-		22206638	-1	no_errors	ENST00000374695	ensembl	human	known	74_37	missense	SNP	1.000	T
DFNA5	1687	genome.wustl.edu	37	7	24742447	24742447	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr7:24742447G>T	ENST00000342947.3	-	9	1614	c.1189C>A	c.(1189-1191)Cca>Aca	p.P397T	DFNA5_ENST00000409970.1_Missense_Mutation_p.P233T|DFNA5_ENST00000545231.1_Missense_Mutation_p.P233T|DFNA5_ENST00000409775.3_Missense_Mutation_p.P397T|DFNA5_ENST00000419307.1_Missense_Mutation_p.P233T	NM_004403.2	NP_004394.1	O60443	DFNA5_HUMAN	deafness, autosomal dominant 5	397					apoptotic process (GO:0006915)|inner ear receptor cell differentiation (GO:0060113)|negative regulation of cell proliferation (GO:0008285)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						GCGCTATCTGGCATTTCTGCA	0.493																																					GBM(78;184 1250 20134 20900 23600)												0								ENSG00000105928						80.0	76.0	78.0					7																	24742447		2203	4300	6503	DFNA5	SO:0001583	missense	0			-	HGNC	AF007790	CCDS5389.1, CCDS47563.1	7p15	2011-07-01			ENSG00000105928	ENSG00000105928			2810	protein-coding gene	gene with protein product		608798				8589696, 9450185	Standard	NM_004403		Approved	ICERE-1	uc010kus.1	O60443	OTTHUMG00000023237	ENST00000342947.3:c.1189C>A	7.37:g.24742447G>T	ENSP00000339587:p.Pro397Thr	Somatic	0	30	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	A4D156|B2RAX9|B3KT05|O14590|Q08AQ8|Q9UBV3	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Gasdermin	p.P397T	ENST00000342947.3	37	c.1189	CCDS5389.1	7	.	.	.	.	.	.	.	.	.	.	G	16.72	3.200414	0.58126	.	.	ENSG00000105928	ENST00000342947;ENST00000419307;ENST00000545231;ENST00000409970;ENST00000409775;ENST00000430096	T;T;T;T;T;T	0.22336	1.96;1.96;1.96;1.96;1.96;1.96	5.86	5.86	0.93980	.	0.228496	0.45606	D	0.000349	T	0.40448	0.1117	M	0.75447	2.3	0.37057	D	0.89787	D	0.76494	0.999	D	0.68765	0.96	T	0.30416	-0.9979	10	0.12430	T	0.62	-16.2293	11.4233	0.49996	0.082:0.0:0.918:0.0	.	397	O60443	DFNA5_HUMAN	T	397;233;233;233;397;17	ENSP00000339587:P397T;ENSP00000401332:P233T;ENSP00000442661:P233T;ENSP00000387119:P233T;ENSP00000386670:P397T;ENSP00000395540:P17T	ENSP00000339587:P397T	P	-	1	0	DFNA5	24708972	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	2.647000	0.46639	2.937000	0.99478	0.650000	0.86243	CCA	-	pfam_Gasdermin		0.493	DFNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DFNA5	protein_coding	OTTHUMT00000214060.2	G	NM_004403	-		24742447	-1	no_errors	ENST00000342947	ensembl	human	known	74_37	missense	SNP	1.000	T
FSIP1	161835	genome.wustl.edu	37	15	39910030	39910030	+	Silent	SNP	G	G	T			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr15:39910030G>T	ENST00000350221.3	-	11	1814	c.1605C>A	c.(1603-1605)ccC>ccA	p.P535P		NM_152597.4	NP_689810.3	Q8NA03	FSIP1_HUMAN	fibrous sheath interacting protein 1	535										NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	23		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)		CTAAGAAGGAGGGCCTTTTCA	0.403																																																	0								ENSG00000150667						110.0	103.0	105.0					15																	39910030		2200	4297	6497	FSIP1	SO:0001819	synonymous_variant	0			-	HGNC	BC045191	CCDS10050.1	15q14	2012-11-19			ENSG00000150667	ENSG00000150667			21674	protein-coding gene	gene with protein product		615795				14702039	Standard	NM_152597		Approved	FLJ35989	uc001zki.3	Q8NA03	OTTHUMG00000172456	ENST00000350221.3:c.1605C>A	15.37:g.39910030G>T		Somatic	0	67	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	26	10.34	Q6X2C8|Q86Y89	Silent	SNP	NA	NA	NA	NA	NA	NA	NULL	p.P535	ENST00000350221.3	37	c.1605	CCDS10050.1	15																																																																																			-	NULL		0.403	FSIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FSIP1	protein_coding	OTTHUMT00000252118.2	G	NM_152597	-		39910030	-1	no_errors	ENST00000350221	ensembl	human	known	74_37	silent	SNP	0.994	T
WDR16	146845	genome.wustl.edu	37	17	9541928	9541928	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr17:9541928G>A	ENST00000352665.5	+	12	1544	c.1475G>A	c.(1474-1476)cGt>cAt	p.R492H	RP11-55L4.2_ENST00000584676.1_RNA|WDR16_ENST00000299764.5_Missense_Mutation_p.R502H|WDR16_ENST00000396219.3_Missense_Mutation_p.R424H|WDR16_ENST00000576714.1_3'UTR	NM_145054.4	NP_659491.4			WD repeat domain 16											NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						CTTTCCAGGCGTCTCAGGAGG	0.453																																																	0								ENSG00000166596						97.0	87.0	91.0					17																	9541928		2203	4300	6503	WDR16	SO:0001583	missense	0			-	HGNC	AB065281	CCDS11149.2, CCDS42262.1	17p13.1	2014-08-01			ENSG00000166596	ENSG00000166596		"""WD repeat domain containing"""	16053	protein-coding gene	gene with protein product	"""WD40-repeat protein upregulated in HCC"""	609804				15967112	Standard	NM_001080556		Approved	WDRPUH, FLJ37528	uc002gly.3	Q8N1V2	OTTHUMG00000150149	ENST00000352665.5:c.1475G>A	17.37:g.9541928G>A	ENSP00000339449:p.Arg492His	Somatic	0	54	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	12	45.45		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R502H	ENST00000352665.5	37	c.1505	CCDS11149.2	17	.	.	.	.	.	.	.	.	.	.	G	19.71	3.878944	0.72294	.	.	ENSG00000166596	ENST00000352665;ENST00000396219;ENST00000299764	T;T;T	0.42131	0.98;2.77;2.18	5.24	-0.149	0.13420	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.046189	0.85682	N	0.000000	T	0.58623	0.2135	M	0.78916	2.43	0.58432	D	0.99999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.73708	0.981;0.965;0.948	T	0.57329	-0.7830	10	0.56958	D	0.05	-4.0543	9.5309	0.39193	0.36:0.0:0.64:0.0	.	502;424;492	Q8N1V2-2;Q8N1V2-3;Q8N1V2	.;.;WDR16_HUMAN	H	492;424;502	ENSP00000339449:R492H;ENSP00000379521:R424H;ENSP00000299764:R502H	ENSP00000299764:R502H	R	+	2	0	WDR16	9482653	0.999000	0.42202	0.968000	0.41197	0.873000	0.50193	2.565000	0.45939	-0.136000	0.11475	-0.123000	0.14984	CGT	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.453	WDR16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR16	protein_coding	OTTHUMT00000316569.2	G	NM_145054	-		9541928	+1	no_errors	ENST00000299764	ensembl	human	known	74_37	missense	SNP	0.999	A
TM6SF2	53345	genome.wustl.edu	37	19	19378468	19378468	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr19:19378468G>T	ENST00000389363.4	-	8	838	c.766C>A	c.(766-768)Cca>Aca	p.P256T	AC138430.4_ENST00000586064.2_RNA|TM6SF2_ENST00000586107.1_5'Flank	NM_001001524.2	NP_001001524.2	Q9BZW4	TM6S2_HUMAN	transmembrane 6 superfamily member 2	256						integral component of membrane (GO:0016021)				breast(2)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14			Epithelial(12;0.0151)			CGCAGGTATGGCTCATACTGG	0.577																																																	0								ENSG00000213996						47.0	49.0	48.0					19																	19378468		1982	4161	6143	TM6SF2	SO:0001583	missense	0			-	HGNC	AF255923	CCDS42528.1	19p13.3-p12	2008-02-05							11861	protein-coding gene	gene with protein product		606563				11124529	Standard	NM_001001524		Approved	Lpr4	uc002nmd.1	Q9BZW4		ENST00000389363.4:c.766C>A	19.37:g.19378468G>T	ENSP00000374014:p.Pro256Thr	Somatic	0	33	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	24	14.29	Q0IJ64	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Transmembrane_6/97	p.P256T	ENST00000389363.4	37	c.766	CCDS42528.1	19	.	.	.	.	.	.	.	.	.	.	G	23.6	4.430033	0.83776	.	.	ENSG00000213996	ENST00000389363;ENST00000269990	T	0.37058	1.22	4.87	4.87	0.63330	.	0.000000	0.47093	U	0.000250	T	0.62282	0.2415	M	0.78637	2.42	0.58432	D	0.999996	D	0.89917	1.0	D	0.91635	0.999	T	0.68096	-0.5499	10	0.87932	D	0	-8.0474	16.5629	0.84570	0.0:0.0:1.0:0.0	.	256	Q9BZW4	TM6S2_HUMAN	T	256	ENSP00000374014:P256T	ENSP00000269990:P256T	P	-	1	0	TM6SF2	19239468	1.000000	0.71417	0.994000	0.49952	0.977000	0.68977	8.778000	0.91785	2.250000	0.74265	0.462000	0.41574	CCA	-	pfam_Transmembrane_6/97		0.577	TM6SF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TM6SF2	protein_coding	OTTHUMT00000460122.2	G	NM_203510	-		19378468	-1	no_errors	ENST00000389363	ensembl	human	known	74_37	missense	SNP	1.000	T
FAM168A	23201	genome.wustl.edu	37	11	73122448	73122448	+	Silent	SNP	C	C	T			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr11:73122448C>T	ENST00000064778.4	-	6	722	c.438G>A	c.(436-438)ctG>ctA	p.L146L	FAM168A_ENST00000356467.4_Silent_p.L137L|FAM168A_ENST00000450446.2_Intron|RP11-809N8.4_ENST00000536855.1_RNA|RP11-809N8.4_ENST00000542598.1_RNA			Q92567	F168A_HUMAN	family with sequence similarity 168, member A	146										endometrium(3)|kidney(1)|lung(1)	5						CCTGGGCATACAGATTCTGCT	0.572																																																	0								ENSG00000054965						90.0	90.0	90.0					11																	73122448		1931	4115	6046	FAM168A	SO:0001819	synonymous_variant	0			-	HGNC	BC014932	CCDS41689.1, CCDS66165.1, CCDS73346.1	11q13.4	2008-06-11	2008-06-11	2008-06-11		ENSG00000054965			28999	protein-coding gene	gene with protein product	"""tongue cancer chemotherapy resistance-associated protein 1"""		"""KIAA0280"""	KIAA0280			Standard	XM_005273852		Approved	TCRP1	uc001oty.1	Q92567		ENST00000064778.4:c.438G>A	11.37:g.73122448C>T		Somatic	0	29	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	24	14.29	A2ICY2|A2ID81|Q86UG2	Silent	SNP	NA	NA	NA	NA	NA	NA	NULL	p.L146	ENST00000064778.4	37	c.438		11																																																																																			-	NULL		0.572	FAM168A-003	KNOWN	basic	protein_coding	FAM168A	protein_coding	OTTHUMT00000397424.1	C	NM_015159	-		73122448	-1	no_errors	ENST00000064778	ensembl	human	known	74_37	silent	SNP	1.000	T
IRAK3	11213	genome.wustl.edu	37	12	66603234	66603234	+	Splice_Site	SNP	A	A	T			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr12:66603234A>T	ENST00000261233.4	+	3	737		c.e3-1		IRAK3_ENST00000457197.2_Splice_Site	NM_007199.2	NP_009130.2			interleukin-1 receptor-associated kinase 3											breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		TTTCTCTTTCAGGAGCAGTGT	0.353																																																	0								ENSG00000090376						102.0	107.0	105.0					12																	66603234		2203	4300	6503	IRAK3	SO:0001630	splice_region_variant	0			-	HGNC	AF113136	CCDS8975.1, CCDS44937.1	12q13.13	2008-05-02			ENSG00000090376	ENSG00000090376			17020	protein-coding gene	gene with protein product		604459				10383454	Standard	NM_001142523		Approved	IRAK-M	uc001sth.3	Q9Y616	OTTHUMG00000169002	ENST00000261233.4:c.317-1A>T	12.37:g.66603234A>T		Somatic	0	73	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	39	9.30		Splice_Site	SNP	NA	NA	NA	NA	NA	NA	-	e3-2	ENST00000261233.4	37	c.317-2	CCDS8975.1	12	.	.	.	.	.	.	.	.	.	.	A	14.17	2.454605	0.43634	.	.	ENSG00000090376	ENST00000261233;ENST00000457197	.	.	.	5.23	5.23	0.72850	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.4301	0.50034	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	IRAK3	64889501	1.000000	0.71417	1.000000	0.80357	0.517000	0.34286	3.811000	0.55620	2.191000	0.70037	0.533000	0.62120	.	-	-		0.353	IRAK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRAK3	protein_coding	OTTHUMT00000401908.1	A		-	Intron	66603234	+1	no_errors	ENST00000261233	ensembl	human	known	74_37	splice_site	SNP	1.000	T
LRRC71	149499	genome.wustl.edu	37	1	156904654	156904654	+	IGR	DEL	A	A	-	rs561157526		TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr1:156904654delA	ENST00000337428.7	+	0	1959				ARHGEF11_ENST00000487682.1_5'UTR|MIR765_ENST00000390226.1_RNA|ARHGEF11_ENST00000368194.3_3'UTR	NM_144702.2	NP_653303.2	Q8N4P6	LRC71_HUMAN	leucine rich repeat containing 71											endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|stomach(1)	12						AACTTTTCTTAAAAAAAAAAT	0.308																																																	0								ENSG00000132694																																			ARHGEF11	SO:0001628	intergenic_variant	0				HGNC	BC033790	CCDS44249.1	1q23.1	2011-02-14	2011-02-14	2011-02-14	ENSG00000160838	ENSG00000160838			26556	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 92"""	C1orf92		14702039	Standard	NM_144702		Approved	FLJ32884	uc001fqm.2	Q8N4P6	OTTHUMG00000041298		1.37:g.156904654delA		Somatic	0	31	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	28	12.50	Q96M24	RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000337428.7	37	NULL	CCDS44249.1	1																																																																																			-	-		0.308	LRRC71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF11	protein_coding	OTTHUMT00000098961.1	A	NM_144702			156904654	-1	no_errors	ENST00000487682	ensembl	human	known	74_37	rna	DEL	0.863	-
CSMD3	114788	genome.wustl.edu	37	8	113323343	113323343	+	Missense_Mutation	SNP	C	C	A			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr8:113323343C>A	ENST00000297405.5	-	50	7993	c.7749G>T	c.(7747-7749)caG>caT	p.Q2583H	CSMD3_ENST00000455883.2_Missense_Mutation_p.Q2479H|CSMD3_ENST00000343508.3_Missense_Mutation_p.Q2543H|CSMD3_ENST00000352409.3_Missense_Mutation_p.Q2513H	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2583	Sushi 14. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GCCCACCTGTCTGACTGATAA	0.418										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							0								ENSG00000164796						127.0	109.0	115.0					8																	113323343		2203	4300	6503	CSMD3	SO:0001583	missense	0			-	HGNC	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.7749G>T	8.37:g.113323343C>A	ENSP00000297405:p.Gln2583His	Somatic	0	58	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	32	25.58	Q96PZ3	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.Q2583H	ENST00000297405.5	37	c.7749	CCDS6315.1	8	.	.	.	.	.	.	.	.	.	.	C	21.3	4.125381	0.77436	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13;-0.13	5.76	4.89	0.63831	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000001	T	0.77089	0.4079	M	0.79123	2.44	0.46167	D	0.998905	D;D;B	0.76494	0.998;0.999;0.078	D;D;B	0.85130	0.994;0.997;0.236	T	0.77338	-0.2625	10	0.42905	T	0.14	.	10.9388	0.47262	0.0:0.8571:0.0:0.1429	.	2479;2583;2543	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	H	2543;2583;1853;2479;2513	ENSP00000345799:Q2543H;ENSP00000297405:Q2583H;ENSP00000341558:Q1853H;ENSP00000412263:Q2479H;ENSP00000343124:Q2513H	ENSP00000297405:Q2583H	Q	-	3	2	CSMD3	113392519	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.362000	0.52314	1.435000	0.47434	0.655000	0.94253	CAG	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.418	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	protein_coding	OTTHUMT00000347141.1	C	NM_052900	-		113323343	-1	no_errors	ENST00000297405	ensembl	human	known	74_37	missense	SNP	1.000	A
ZNF234	10780	genome.wustl.edu	37	19	44661134	44661137	+	Frame_Shift_Del	DEL	GTAA	GTAA	-			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	GTAA	GTAA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr19:44661134_44661137delGTAA	ENST00000426739.2	+	6	1223_1226	c.965_968delGTAA	c.(964-969)ggtaagfs	p.GK322fs	ZNF234_ENST00000592437.1_Frame_Shift_Del_p.GK322fs	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	322					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				GAGGACTGTGGTAAGTGTTTCACT	0.417																																																	0								ENSG00000263002																																			ZNF234	SO:0001589	frameshift_variant	0				HGNC	X78927	CCDS46101.1	19q13	2013-01-08				ENSG00000263002		"""Zinc fingers, C2H2-type"", ""-"""	13027	protein-coding gene	gene with protein product		604750		ZNF269		7865130	Standard	NM_006630		Approved	HZF4	uc002oyl.4	Q14588		ENST00000426739.2:c.965_968delGTAA	19.37:g.44661134_44661137delGTAA	ENSP00000400878:p.Gly322fs	Somatic	0	57	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	33	17.50	A8K1C8|Q96IR4|Q9NS45|Q9NYT7	Frame_Shift_Del	DEL	NA	NA	NA	NA	NA	NA	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.K323fs	ENST00000426739.2	37	c.965_968	CCDS46101.1	19																																																																																			-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.417	ZNF234-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF234	protein_coding	OTTHUMT00000460586.2	GTAA				44661137	+1	no_errors	ENST00000426739	ensembl	human	known	74_37	frame_shift_del	DEL	1.000:0.976:0.987:0.973	-
ART1	417	genome.wustl.edu	37	11	3685362	3685362	+	Silent	SNP	G	G	T			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr11:3685362G>T	ENST00000250693.1	+	5	1028	c.927G>T	c.(925-927)ctG>ctT	p.L309L	Y_RNA_ENST00000363331.1_RNA|Y_RNA_ENST00000364409.1_RNA	NM_004314.2	NP_004305.2	P52961	NAR1_HUMAN	ADP-ribosyltransferase 1	309					innate immune response (GO:0045087)|protein ADP-ribosylation (GO:0006471)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)	NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1)	8		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)		GGTCTTTGCTGCTGCTGCTCT	0.577																																																	0								ENSG00000129744						144.0	114.0	124.0					11																	3685362		2201	4298	6499	ART1	SO:0001819	synonymous_variant	0			-	HGNC	S74683	CCDS7744.1	11p15	2006-02-23			ENSG00000129744	ENSG00000129744		"""CD molecules"""	723	protein-coding gene	gene with protein product		601625				8812442	Standard	NM_004314		Approved	ART2, CD296	uc001lye.1	P52961	OTTHUMG00000011845	ENST00000250693.1:c.927G>T	11.37:g.3685362G>T		Somatic	0	19	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	13	18.75	Q6NTD2|Q96KT9	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_ART,prints_ART	p.L309	ENST00000250693.1	37	c.927	CCDS7744.1	11																																																																																			-	NULL		0.577	ART1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ART1	protein_coding	OTTHUMT00000032765.1	G	NM_004314	-		3685362	+1	no_errors	ENST00000250693	ensembl	human	known	74_37	silent	SNP	0.613	T
OR4K1	79544	genome.wustl.edu	37	14	20404427	20404427	+	Missense_Mutation	SNP	C	C	T	rs200761942		TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr14:20404427C>T	ENST00000285600.4	+	1	661	c.602C>T	c.(601-603)aCg>aTg	p.T201M		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	201						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		ATGACCCTAACGAACAGTGGC	0.448													C|||	1	0.000199681	0.0	0.0	5008	,	,		28947	0.0		0.001	False		,,,				2504	0.0																0								ENSG00000155249	C	MET/THR	1,4405		0,1,2202	153.0	155.0	155.0		602	5.0	0.1	14		155	2,8598		0,2,4298	yes	missense	OR4K1	NM_001004063.2	81	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	possibly-damaging	201/312	20404427	3,13003	2203	4300	6503	OR4K1	SO:0001583	missense	0			-	HGNC		CCDS32025.1	14q11.2	2013-09-23			ENSG00000155249	ENSG00000155249		"""GPCR / Class A : Olfactory receptors"""	14726	protein-coding gene	gene with protein product							Standard	NM_001004063		Approved		uc001vwj.2	Q8NGD4	OTTHUMG00000170633	ENST00000285600.4:c.602C>T	14.37:g.20404427C>T	ENSP00000285600:p.Thr201Met	Somatic	0	155	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	108	10.00	B9EKV9|Q8NGD6|Q96R73	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.T201M	ENST00000285600.4	37	c.602	CCDS32025.1	14	.	.	.	.	.	.	.	.	.	.	.	9.140	1.013546	0.19277	2.27E-4	2.33E-4	ENSG00000155249	ENST00000285600	T	0.00099	8.73	4.96	4.96	0.65561	GPCR, rhodopsin-like superfamily (1);	0.213190	0.33290	N	0.005065	T	0.00178	0.0005	L	0.49513	1.565	0.09310	N	1	P	0.48230	0.907	B	0.42112	0.376	T	0.59434	-0.7455	10	0.87932	D	0	.	13.5612	0.61790	0.0:1.0:0.0:0.0	.	201	Q8NGD4	OR4K1_HUMAN	M	201	ENSP00000285600:T201M	ENSP00000285600:T201M	T	+	2	0	OR4K1	19474267	0.000000	0.05858	0.093000	0.20910	0.057000	0.15508	-0.056000	0.11787	2.575000	0.86900	0.563000	0.77884	ACG	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.448	OR4K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4K1	protein_coding	OTTHUMT00000409881.1	C		rs200761942		20404427	+1	no_errors	ENST00000285600	ensembl	human	known	74_37	missense	SNP	0.025	T
SRRM4	84530	genome.wustl.edu	37	12	119568494	119568494	+	Missense_Mutation	SNP	G	G	A	rs114691929	byFrequency	TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr12:119568494G>A	ENST00000267260.4	+	8	1014	c.626G>A	c.(625-627)cGg>cAg	p.R209Q	SRRM4_ENST00000537597.1_3'UTR	NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	209	Ser-rich.				cell differentiation (GO:0030154)|mRNA processing (GO:0006397)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	mRNA binding (GO:0003729)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						CACCGCGGCCGGTCCCCTGAG	0.642													G|||	2	0.000399361	0.0008	0.0	5008	,	,		13234	0.0		0.001	False		,,,				2504	0.0																0								ENSG00000139767	G	GLN/ARG	0,3776		0,0,1888	16.0	21.0	19.0		626	3.3	1.0	12	dbSNP_132	19	1,8203		0,1,4101	no	missense	SRRM4	NM_194286.3	43	0,1,5989	AA,AG,GG		0.0122,0.0,0.0083	possibly-damaging	209/612	119568494	1,11979	1888	4102	5990	SRRM4	SO:0001583	missense	0			GMAF=0.0005	HGNC	AB058756	CCDS44994.1	12q24.23	2009-09-22	2009-09-21	2009-09-21	ENSG00000139767	ENSG00000139767			29389	protein-coding gene	gene with protein product	"""neural-specific SR-related protein of 100 kDa"""	613103	"""KIAA1853"""	KIAA1853		19737518	Standard	NM_194286		Approved	nSR100	uc001txa.2	A7MD48	OTTHUMG00000168928	ENST00000267260.4:c.626G>A	12.37:g.119568494G>A	ENSP00000267260:p.Arg209Gln	Somatic	0	19	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	13	27.78	A8K5P6|B2RZH7|Q7Z5F0|Q96JH4	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.R209Q	ENST00000267260.4	37	c.626	CCDS44994.1	12	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	20.2	3.941857	0.73557	0.0	1.22E-4	ENSG00000139767	ENST00000267260	T	0.24350	1.86	5.17	3.32	0.38043	.	0.330045	0.28301	N	0.015859	T	0.16171	0.0389	L	0.31664	0.95	0.31416	N	0.674921	B	0.23490	0.086	B	0.15052	0.012	T	0.12785	-1.0534	10	0.22109	T	0.4	-5.8058	9.674	0.40030	0.1653:0.0:0.8347:0.0	.	209	A7MD48	SRRM4_HUMAN	Q	209	ENSP00000267260:R209Q	ENSP00000267260:R209Q	R	+	2	0	SRRM4	118052877	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	0.989000	0.29629	1.184000	0.42957	0.448000	0.29417	CGG	-	NULL		0.642	SRRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRRM4	protein_coding	OTTHUMT00000401640.2	G	NM_194286	rs114691929		119568494	+1	no_errors	ENST00000267260	ensembl	human	known	74_37	missense	SNP	1.000	A
TFAP2D	83741	genome.wustl.edu	37	6	50682937	50682937	+	Missense_Mutation	SNP	A	A	G			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr6:50682937A>G	ENST00000008391.3	+	2	376	c.148A>G	c.(148-150)Acc>Gcc	p.T50A		NM_172238.3	NP_758438.2			transcription factor AP-2 delta (activating enhancer binding protein 2 delta)											NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					AACTTACTCCACCACCGGCAC	0.552																																																	0								ENSG00000008197						248.0	198.0	215.0					6																	50682937		2203	4300	6503	TFAP2D	SO:0001583	missense	0			-	HGNC	AY028376	CCDS4933.1	6p12.3	2008-02-05	2004-10-26	2004-10-27		ENSG00000008197			15581	protein-coding gene	gene with protein product		610161	"""transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)-like 1"""	TFAP2BL1		11733187	Standard	NM_172238		Approved		uc003paf.3	Q7Z6R9		ENST00000008391.3:c.148A>G	6.37:g.50682937A>G	ENSP00000008391:p.Thr50Ala	Somatic	0	36	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	29	30.95		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_TF_AP2_C,prints_TF_AP2_C	p.T50A	ENST00000008391.3	37	c.148	CCDS4933.1	6	.	.	.	.	.	.	.	.	.	.	A	10.29	1.310040	0.23821	.	.	ENSG00000008197	ENST00000008391	D	0.97529	-4.42	5.07	5.07	0.68467	.	0.163691	0.56097	D	0.000036	D	0.86648	0.5983	N	0.08118	0	0.49687	D	0.999812	B	0.02656	0.0	B	0.01281	0.0	D	0.84014	0.0350	10	0.36615	T	0.2	-0.162	10.3804	0.44108	0.9229:0.0:0.0771:0.0	.	50	Q7Z6R9	AP2D_HUMAN	A	50	ENSP00000008391:T50A	ENSP00000008391:T50A	T	+	1	0	TFAP2D	50790896	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.123000	0.64703	2.022000	0.59522	0.533000	0.62120	ACC	-	NULL		0.552	TFAP2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFAP2D	protein_coding	OTTHUMT00000040881.1	A	NM_172238	-		50682937	+1	no_errors	ENST00000008391	ensembl	human	known	74_37	missense	SNP	0.999	G
MUC16	94025	genome.wustl.edu	37	19	9033271	9033271	+	Silent	SNP	G	G	A			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr19:9033271G>A	ENST00000397910.4	-	10	36558	c.36355C>T	c.(36355-36357)Ctg>Ttg	p.L12119L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12121	SEA 1. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGGTATTCCAGACTGCTATTC	0.532																																																	0								ENSG00000181143						63.0	62.0	62.0					19																	9033271		1997	4156	6153	MUC16	SO:0001819	synonymous_variant	0			-	HGNC	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.36355C>T	19.37:g.9033271G>A		Somatic	0	26	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	15	21.05	Q6ZQW5|Q96RK2	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.L12119	ENST00000397910.4	37	c.36355	CCDS54212.1	19																																																																																			-	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom		0.532	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	protein_coding	OTTHUMT00000402806.1	G	NM_024690	-		9033271	-1	no_errors	ENST00000397910	ensembl	human	known	74_37	silent	SNP	0.000	A
ARMC5	79798	genome.wustl.edu	37	16	31476247	31476247	+	Intron	SNP	G	G	T			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr16:31476247G>T	ENST00000563544.1	+	5	2410				ARMC5_ENST00000412665.2_Intron|ARMC5_ENST00000408912.3_Intron|ARMC5_ENST00000538189.1_Intron|ARMC5_ENST00000268314.4_Intron|ARMC5_ENST00000457010.2_Nonsense_Mutation_p.E635*			Q96C12	ARMC5_HUMAN	armadillo repeat containing 5											central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						GCCCCCATGTGAGTCCCCATC	0.657																																																	0								ENSG00000140691						34.0	39.0	37.0					16																	31476247		2044	4189	6233	ARMC5	SO:0001627	intron_variant	0			-	HGNC	AY217348	CCDS42155.1, CCDS45472.1, CCDS73874.1	16p11	2013-02-14			ENSG00000140691	ENSG00000140691		"""Armadillo repeat containing"""	25781	protein-coding gene	gene with protein product		615549					Standard	NM_024742		Approved	FLJ13063	uc002ecc.3	Q96C12	OTTHUMG00000176618	ENST00000563544.1:c.1864+39G>T	16.37:g.31476247G>T		Somatic	0	42	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	19	17.39	Q86WM9|Q9H7P8|Q9H925	Nonsense_Mutation	SNP	NA	NA	NA	NA	NA	NA	superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.E635*	ENST00000563544.1	37	c.1903	CCDS45472.1	16	.	.	.	.	.	.	.	.	.	.	G	40	8.284129	0.98742	.	.	ENSG00000140691	ENST00000457010	.	.	.	3.34	-3.37	0.04898	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.064	0.36451	0.7444:0.0:0.2556:0.0	.	.	.	.	X	635	.	.	E	+	1	0	ARMC5	31383748	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.941000	0.03925	-0.751000	0.04734	-0.436000	0.05848	GAG	-	NULL		0.657	ARMC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ARMC5	protein_coding	OTTHUMT00000432847.1	G	NM_024742	-		31476247	+1	no_errors	ENST00000457010	ensembl	human	known	74_37	nonsense	SNP	0.000	T
MAP1B	4131	genome.wustl.edu	37	5	71490469	71490469	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr5:71490469G>T	ENST00000296755.7	+	5	1585	c.1287G>T	c.(1285-1287)aaG>aaT	p.K429N		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	429					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		ATCCAGTCAAGAGCAGCAAGG	0.403																																					Melanoma(17;367 822 11631 31730 47712)												0								ENSG00000131711						140.0	141.0	140.0					5																	71490469		2203	4300	6503	MAP1B	SO:0001583	missense	0			-	HGNC	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.1287G>T	5.37:g.71490469G>T	ENSP00000296755:p.Lys429Asn	Somatic	0	66	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	29	14.71	A2BDK5	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_MAP1B_neuraxin	p.K429N	ENST00000296755.7	37	c.1287	CCDS4012.1	5	.	.	.	.	.	.	.	.	.	.	G	14.94	2.686413	0.47991	.	.	ENSG00000131711	ENST00000296755;ENST00000511641;ENST00000504492	T;T;T	0.24908	1.83;1.83;1.83	5.71	3.92	0.45320	.	0.182095	0.38326	N	0.001737	T	0.44540	0.1298	M	0.75615	2.305	0.54753	D	0.999981	D;D	0.76494	0.999;0.999	D;D	0.66084	0.941;0.941	T	0.36601	-0.9741	10	0.87932	D	0	-20.6128	6.7893	0.23692	0.3968:0.0:0.6032:0.0	.	303;429	A2BDK6;P46821	.;MAP1B_HUMAN	N	429;446;303	ENSP00000296755:K429N;ENSP00000423444:K446N;ENSP00000423416:K303N	ENSP00000296755:K429N	K	+	3	2	MAP1B	71526225	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.056000	0.30480	0.745000	0.32763	0.563000	0.77884	AAG	-	NULL		0.403	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP1B	protein_coding	OTTHUMT00000218561.6	G	NM_005909	-		71490469	+1	no_errors	ENST00000296755	ensembl	human	known	74_37	missense	SNP	1.000	T
RAD54L	8438	genome.wustl.edu	37	1	46743599	46743599	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr1:46743599G>T	ENST00000371975.4	+	17	2654	c.1980G>T	c.(1978-1980)gaG>gaT	p.E660D	LRRC41_ENST00000472710.1_5'Flank|RAD54L_ENST00000442598.1_Missense_Mutation_p.E660D	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	660					chromosome organization (GO:0051276)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|meiotic nuclear division (GO:0007126)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		CTCTGGGCGAGTTGAAGGAGC	0.527								Direct reversal of damage;Homologous recombination																																									0								ENSG00000085999						138.0	124.0	128.0					1																	46743599		2203	4300	6503	RAD54L	SO:0001583	missense	0			-	HGNC	X97795	CCDS532.1	1p32	2008-02-05	2001-11-28		ENSG00000085999	ENSG00000085999			9826	protein-coding gene	gene with protein product		603615	"""RAD54 (S.cerevisiae)-like"""			8805304	Standard	NM_003579		Approved	hHR54, hRAD54, RAD54A	uc009vye.2	Q92698	OTTHUMG00000007772	ENST00000371975.4:c.1980G>T	1.37:g.46743599G>T	ENSP00000361043:p.Glu660Asp	Somatic	0	27	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	16	15.79	Q5TE31|Q6IUY3	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_SNF2_N,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,pfam_Rad54_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E660D	ENST00000371975.4	37	c.1980	CCDS532.1	1	.	.	.	.	.	.	.	.	.	.	G	0.765	-0.768028	0.02974	.	.	ENSG00000085999	ENST00000442598;ENST00000371975;ENST00000535499	T;T	0.75477	-0.94;-0.94	5.31	0.311	0.15831	.	0.000000	0.85682	D	0.000000	T	0.50394	0.1613	N	0.20304	0.555	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.0	T	0.44329	-0.9335	10	0.02654	T	1	-20.7381	9.7857	0.40675	0.4119:0.0:0.5881:0.0	.	480;660	G3V1N0;Q92698	.;RAD54_HUMAN	D	660;660;480	ENSP00000396113:E660D;ENSP00000361043:E660D	ENSP00000361043:E660D	E	+	3	2	RAD54L	46516186	0.993000	0.37304	0.367000	0.25926	0.983000	0.72400	0.886000	0.28241	-0.081000	0.12662	0.561000	0.74099	GAG	-	superfamily_P-loop_NTPase		0.527	RAD54L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD54L	protein_coding	OTTHUMT00000021272.1	G	NM_003579	-		46743599	+1	no_errors	ENST00000371975	ensembl	human	known	74_37	missense	SNP	0.932	T
MGAT4EP	641515	genome.wustl.edu	37	1	202794689	202794689	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr1:202794689delT	ENST00000330493.5	+	3	1146	c.55delT	c.(55-57)tttfs	p.F20fs	RP11-480I12.4_ENST00000549576.1_Frame_Shift_Del_p.F20fs																							GGACAATGTCTTTTTTGCCCC	0.458																																																	0								ENSG00000184774																																			RP11-480I12.4	SO:0001589	frameshift_variant	0				Clone_based_vega_gene																												ENST00000330493.5:c.55delT	1.37:g.202794689delT	ENSP00000446921:p.Phe20fs	Somatic	0	31	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	18	10.00		Frame_Shift_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_Glyco_transf_54	p.F20fs	ENST00000330493.5	37	c.55		1																																																																																			-	pfam_Glyco_transf_54		0.458	RP11-480I12.4-001	KNOWN	basic|appris_principal	protein_coding	ENSG00000184774	protein_coding	OTTHUMT00000099140.2	T				202794689	+1	no_errors	ENST00000330493	ensembl	human	known	74_37	frame_shift_del	DEL	0.000	-
KIR3DL1	3811	genome.wustl.edu	37	19	55324675	55324675	+	Intron	DEL	A	A	-			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr19:55324675delA	ENST00000538269.1	+	2	61				KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396293.1_Intron|KIR2DL4_ENST00000396284.2_Frame_Shift_Del_p.K268fs|KIR2DL4_ENST00000357494.4_Intron|KIR2DL4_ENST00000346587.4_Intron|KIR2DL4_ENST00000345540.5_Intron|KIR2DL4_ENST00000463062.1_3'UTR|KIR2DL4_ENST00000359085.4_Frame_Shift_Del_p.K270fs|KIR3DL1_ENST00000541392.1_Intron			P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1						immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)	p.M271fs*>3(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		CTGGTGCTCCAAAAAAAAAGT	0.532																																																	1	Deletion - Frameshift(1)	ovary(1)						ENSG00000189013		,,	51,3917		3,45,1936	66.0	101.0	90.0		,,	-1.0	0.0	19	dbSNP_134	94	51,8005		2,47,3979	no	frameshift,frameshift,intron	KIR2DL4	NM_002255.5,NM_001080772.1,NM_001080770.1	,,	5,92,5915	A1A1,A1R,RR		0.6331,1.2853,0.8483	,,	,,	55324675	102,11922	2077	4226	6303	KIR2DL4	SO:0001627	intron_variant	0				HGNC	L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000538269.1:c.35-4314A>-	19.37:g.55324675delA		Somatic	0	54	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	27	10.00	O43473|Q14946|Q16541	Frame_Shift_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_Immunoglobulin,smart_Ig_sub	p.V269fs	ENST00000538269.1	37	c.796		19																																																																																			-	NULL		0.532	KIR3DL1-202	KNOWN	basic|appris_candidate	protein_coding	KIR2DL4	protein_coding		A	NM_013289			55324675	+1	no_errors	ENST00000396284	ensembl	human	known	74_37	frame_shift_del	DEL	0.003	-
ANKLE2	23141	genome.wustl.edu	37	12	133324460	133324460	+	Silent	SNP	G	G	T			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr12:133324460G>T	ENST00000357997.5	-	5	1277	c.1188C>A	c.(1186-1188)atC>atA	p.I396I	ANKLE2_ENST00000539605.1_Silent_p.I334I|ANKLE2_ENST00000337516.5_Silent_p.I396I	NM_015114.1	NP_055929.1	Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	396					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope reassembly (GO:0007084)|negative regulation of phosphorylation (GO:0042326)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of catalytic activity (GO:0050790)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	protein phosphatase 2A binding (GO:0051721)|protein phosphatase type 2A regulator activity (GO:0008601)			NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		CCACGTAACGGATACGCTTCT	0.532																																																	0								ENSG00000176915						126.0	135.0	132.0					12																	133324460		2182	4262	6444	ANKLE2	SO:0001819	synonymous_variant	0			-	HGNC	AB014592	CCDS41869.1	12q24.33	2013-01-11	2008-03-25	2008-03-25	ENSG00000176915	ENSG00000176915		"""Ankyrin repeat domain containing"""	29101	protein-coding gene	gene with protein product	"""LEM domain containing 7"""		"""KIAA0692"""	KIAA0692		9734811	Standard	XM_005266159		Approved	LEMD7, Lem4	uc001ukx.2	Q86XL3	OTTHUMG00000168046	ENST00000357997.5:c.1188C>A	12.37:g.133324460G>T		Somatic	0	63	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00	A8KAG3|B3KN97|B3KSF8|O75176|Q6P6A5|Q8TAZ9|Q96DH4	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_LEM_dom,superfamily_LEM/LEM-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Ribosomal_L9/RNase_H1_N,pfscan_LEM_dom	p.I396	ENST00000357997.5	37	c.1188	CCDS41869.1	12																																																																																			-	superfamily_Ankyrin_rpt-contain_dom		0.532	ANKLE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKLE2	protein_coding	OTTHUMT00000397712.1	G		-		133324460	-1	no_errors	ENST00000357997	ensembl	human	known	74_37	silent	SNP	0.026	T
VPS45	11311	genome.wustl.edu	37	1	150082514	150082514	+	Intron	DEL	A	A	-			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr1:150082514delA	ENST00000369130.3	+	14	2039				VPS45_ENST00000484306.1_3'UTR|VPS45_ENST00000535106.1_Intron|VPS45_ENST00000369128.5_Intron	NM_001279354.1|NM_007259.3	NP_001266283.1|NP_009190.2	Q9NRW7	VPS45_HUMAN	vacuolar protein sorting 45 homolog (S. cerevisiae)						blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|vesicle docking involved in exocytosis (GO:0006904)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21	Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			TTCCTCCACCAAAAAAAAAAG	0.303																																																	0								ENSG00000136631																																			VPS45	SO:0001627	intron_variant	0				HGNC	U35246	CCDS944.1, CCDS60244.1, CCDS72904.1	1q21.2	2008-02-05	2006-12-19	2006-12-19	ENSG00000136631	ENSG00000136631			14579	protein-coding gene	gene with protein product		610035	"""vacuolar protein sorting 45A (yeast homolog)"", ""vacuolar protein sorting 45A (yeast)"""	VPS45B, VPS45A		8996080	Standard	NM_007259		Approved	h-vps45, H1	uc001etp.3	Q9NRW7	OTTHUMG00000012511	ENST00000369130.3:c.1494-97A>-	1.37:g.150082514delA		Somatic	0	54	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	41	12.77	D3DUZ9|F5H8K1|Q15715|Q53FR8|Q5T4P6|Q9Y4Z6	RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000369130.3	37	NULL	CCDS944.1	1																																																																																			-	-		0.303	VPS45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS45	protein_coding	OTTHUMT00000034964.1	A	NM_007259			150082514	+1	no_errors	ENST00000484306	ensembl	human	known	74_37	rna	DEL	0.965	-
TPRXL	348825	genome.wustl.edu	37	3	14106367	14106367	+	Missense_Mutation	SNP	T	T	A			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr3:14106367T>A	ENST00000424053.1	+	3	1238	c.691T>A	c.(691-693)Tgc>Agc	p.C231S	TPRXL_ENST00000326972.8_Missense_Mutation_p.C231S|TPRXL_ENST00000429201.1_Missense_Mutation_p.C231S|TPRXL_ENST00000532753.1_Intron			Q17RH7	TPRXL_HUMAN	tetra-peptide repeat homeobox-like	0	Ser-rich.									endometrium(1)	1						cagcagcagcTGCCCCAGTGC	0.706																																																	0								ENSG00000180438																																			TPRXL	SO:0001583	missense	0			-	HGNC	AK092426		3p25.1	2011-06-20			ENSG00000180438	ENSG00000180438		"""Homeoboxes / PRD class"""	32178	pseudogene	pseudogene		611167					Standard	NR_002223		Approved	FLJ35107	uc003byg.3	Q17RH7	OTTHUMG00000155509	ENST00000424053.1:c.691T>A	3.37:g.14106367T>A	ENSP00000400448:p.Cys231Ser	Somatic	0	26	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	26	13.33	Q8NAM5	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.C231S	ENST00000424053.1	37	c.691		3	.	.	.	.	.	.	.	.	.	.	t	2.221	-0.378393	0.05000	.	.	ENSG00000180438	ENST00000326972;ENST00000424053;ENST00000429201	.	.	.	0.294	0.294	0.15747	.	.	.	.	.	T	0.17746	0.0426	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.27262	-1.0079	5	.	.	.	.	.	.	.	.	237	Q17RH7	TPRXL_HUMAN	S	231	.	.	C	+	1	0	TPRXL	14081368	0.921000	0.31238	0.000000	0.03702	0.000000	0.00434	-2.842000	0.00737	-1.117000	0.02965	-1.141000	0.01876	TGC	-	NULL		0.706	TPRXL-003	KNOWN	alternative_5_UTR|basic|appris_principal	protein_coding	TPRXL	protein_coding	OTTHUMT00000340436.1	T	NR_002223	-		14106367	+1	no_errors	ENST00000326972	ensembl	human	known	74_37	missense	SNP	0.007	A
MT2A	4502	genome.wustl.edu	37	16	56643194	56643194	+	Silent	SNP	T	T	C			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr16:56643194T>C	ENST00000245185.5	+	3	571	c.114T>C	c.(112-114)ccT>ccC	p.P38P	MT2A_ENST00000561491.1_3'UTR|MT2A_ENST00000563985.1_3'UTR|RP11-249C24.10_ENST00000569778.1_lincRNA	NM_005953.3	NP_005944.1	P02795	MT2_HUMAN	metallothionein 2A	38	Alpha.				cellular copper ion homeostasis (GO:0006878)|cellular response to drug (GO:0035690)|cellular response to erythropoietin (GO:0036018)|cellular response to interleukin-3 (GO:0036016)|cellular response to zinc ion (GO:0071294)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of growth (GO:0045926)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	drug binding (GO:0008144)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|lung(1)	3					Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	CCTGCTGCCCTGTGGGCTGTG	0.622																																																	0								ENSG00000125148						54.0	54.0	54.0					16																	56643194		2198	4300	6498	MT2A	SO:0001819	synonymous_variant	0			-	HGNC	BC007034	CCDS10763.1	16q13	2012-10-02			ENSG00000125148	ENSG00000125148		"""Metallothioneins"""	7406	protein-coding gene	gene with protein product		156360		MT2		7133118	Standard	NM_005953		Approved		uc002ejh.3	P02795	OTTHUMG00000133281	ENST00000245185.5:c.114T>C	16.37:g.56643194T>C		Somatic	0	30	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	7	27.27	Q14823|Q2HXR9|Q53XT9	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Metalthion_sfam_euk,superfamily_Metalthion_dom,prints_Metalthion_vert	p.P38	ENST00000245185.5	37	c.114	CCDS10763.1	16																																																																																			-	pfam_Metalthion_sfam_euk,superfamily_Metalthion_dom,prints_Metalthion_vert		0.622	MT2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MT2A	protein_coding	OTTHUMT00000257061.1	T	NM_005953	-		56643194	+1	no_errors	ENST00000245185	ensembl	human	known	74_37	silent	SNP	0.574	C
KDM4C	23081	genome.wustl.edu	37	9	7165248	7165248	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr9:7165248G>T	ENST00000381309.3	+	20	3357	c.2792G>T	c.(2791-2793)tGt>tTt	p.C931F	KDM4C_ENST00000428870.2_Missense_Mutation_p.C618F|KDM4C_ENST00000381306.3_Missense_Mutation_p.C931F|KDM4C_ENST00000536108.1_3'UTR|KDM4C_ENST00000442236.2_Missense_Mutation_p.C676F	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	931	Tudor 1.				histone H3-K9 demethylation (GO:0033169)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	androgen receptor binding (GO:0050681)|dioxygenase activity (GO:0051213)|enzyme binding (GO:0019899)|histone demethylase activity (H3-K9 specific) (GO:0032454)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						AGCCGAGACTGTCTGAAGCTG	0.458																																																	0								ENSG00000107077						76.0	76.0	76.0					9																	7165248		2203	4300	6503	KDM4C	SO:0001583	missense	0			-	HGNC	AB018323	CCDS6471.1, CCDS55285.1, CCDS55286.1, CCDS55287.1	9p24-p23	2013-01-23	2009-04-06	2009-04-06	ENSG00000107077	ENSG00000107077		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	17071	protein-coding gene	gene with protein product	"""tudor domain containing 14C"""	605469	"""jumonji domain containing 2C"""	JMJD2C		9872452, 15138608	Standard	NM_015061		Approved	GASC1, KIAA0780, TDRD14C	uc003zkh.3	Q9H3R0	OTTHUMG00000019536	ENST00000381309.3:c.2792G>T	9.37:g.7165248G>T	ENSP00000370710:p.Cys931Phe	Somatic	0	65	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	19	13.64	B4E1Y4|B7ZL46|F5H347|F5H7P0|O94877|Q2M3M0|Q5JUC9|Q5VYJ2|Q5VYJ3	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,superfamily_Chorismate_mutase_type_II,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom	p.C931F	ENST00000381309.3	37	c.2792	CCDS6471.1	9	.	.	.	.	.	.	.	.	.	.	G	24.5	4.535449	0.85812	.	.	ENSG00000107077	ENST00000381309;ENST00000381306;ENST00000442236;ENST00000428870;ENST00000420847	T;T;T;T;T	0.19806	2.21;2.12;2.45;3.17;2.58	5.35	5.35	0.76521	Tudor domain (1);	0.000000	0.85682	D	0.000000	T	0.50939	0.1645	M	0.77486	2.375	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.999	T	0.51332	-0.8719	10	0.87932	D	0	.	19.6142	0.95626	0.0:0.0:1.0:0.0	.	676;931;931	E7EV17;Q9H3R0;Q9H3R0-2	.;KDM4C_HUMAN;.	F	931;931;676;618;308	ENSP00000370710:C931F;ENSP00000370707:C931F;ENSP00000409353:C676F;ENSP00000405739:C618F;ENSP00000400127:C308F	ENSP00000370707:C931F	C	+	2	0	KDM4C	7155248	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.101000	0.94219	2.941000	0.99782	0.655000	0.94253	TGT	-	smart_Tudor		0.458	KDM4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM4C	protein_coding	OTTHUMT00000051692.1	G	NM_015061	-		7165248	+1	no_errors	ENST00000381309	ensembl	human	known	74_37	missense	SNP	1.000	T
GNAL	2774	genome.wustl.edu	37	18	11689669	11689670	+	In_Frame_Ins	INS	-	-	GGCCCT	rs577163323|rs531745431|rs7236061|rs201898548	byFrequency	TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr18:11689669_11689670insGGCCCT	ENST00000334049.6	+	1	715_716	c.107_108insGGCCCT	c.(106-111)ccggcc>ccGGCCCTggcc	p.39_40insLA		NM_182978.3	NP_892023.1	P38405	GNAL_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type	33					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|response to amphetamine (GO:0001975)|response to caffeine (GO:0031000)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)	12						gccccggccccggccctggccc	0.777																																																	0								ENSG00000141404																																			GNAL	SO:0001652	inframe_insertion	0				HGNC	AF493893	CCDS11851.1, CCDS11852.1, CCDS58614.1	18p11.22-p11.21	2003-12-17			ENSG00000141404	ENSG00000141404			4388	protein-coding gene	gene with protein product		139312				1302014	Standard	NM_182978		Approved		uc002kqc.3	P38405	OTTHUMG00000131660	ENST00000334049.6:c.108_113dupGGCCCT	18.37:g.11689670_11689675dupGGCCCT	ENSP00000334051:p.Leu38_Ala39dup	Somatic	NA	NA	NA		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	B7ZA26|Q86XU3	In_Frame_Ins	INS	NA	NA	NA	NA	NA	NA	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_S	p.40in_frame_insLA	ENST00000334049.6	37	c.107_108	CCDS11851.1	18																																																																																			-	NULL		0.777	GNAL-001	KNOWN	basic|CCDS	protein_coding	GNAL	protein_coding	OTTHUMT00000254560.2	-	NM_182978, NM_002071			11689670	+1	no_errors	ENST00000334049	ensembl	human	known	74_37	in_frame_ins	INS	0.981:0.814	GGCCCT
COQ3	51805	genome.wustl.edu	37	6	99817499	99817499	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr6:99817499C>T	ENST00000254759.3	-	7	1111	c.1087G>A	c.(1087-1089)Gtg>Atg	p.V363M	COQ3_ENST00000369242.1_Missense_Mutation_p.V135M|COQ3_ENST00000369240.1_Missense_Mutation_p.V135M	NM_017421.3	NP_059117.3	Q9NZJ6	COQ3_HUMAN	coenzyme Q3 methyltransferase	363					glycerol metabolic process (GO:0006071)|small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	2-polyprenyl-6-methoxy-1,4-benzoquinone methyltransferase activity (GO:0008425)|3-demethylubiquinone-9 3-O-methyltransferase activity (GO:0008689)|hexaprenyldihydroxybenzoate methyltransferase activity (GO:0004395)|O-methyltransferase activity (GO:0008171)			cervix(1)|lung(5)|upper_aerodigestive_tract(2)	8		all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0625)		TTTTCATGCACAGCTGGATTG	0.398																																																	0								ENSG00000132423						132.0	138.0	136.0					6																	99817499		2203	4300	6503	COQ3	SO:0001583	missense	0			-	HGNC	AF193016	CCDS5042.1	6q21	2013-05-01	2013-05-01		ENSG00000132423	ENSG00000132423	2.1.1.114		18175	protein-coding gene	gene with protein product	"""polyprenyldihydroxybenzoate methyltransferase"""	605196	"""coenzyme Q3 homolog, methyltransferase (yeast)"", ""coenzyme Q3 homolog, methyltransferase (S. cerevisiae)"""			10777520	Standard	NM_017421		Approved	bA9819.1	uc003ppk.3	Q9NZJ6	OTTHUMG00000015264	ENST00000254759.3:c.1087G>A	6.37:g.99817499C>T	ENSP00000254759:p.Val363Met	Somatic	0	17	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	9	40.00	B3KPX0|Q5T061|Q6P4F0|Q8IXG6|Q96BG1|Q9H0N1	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Methyltransf_11,pfam_Methyltransf_12,pfam_Mycolic_cyclopropane_synthase,pfam_UbiE/COQ5_MeTrFase,pfam_Small_mtfrase_dom,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_SAM-MeTfrase_NodS-related,tigrfam_UbiG_MeTrfase	p.V363M	ENST00000254759.3	37	c.1087	CCDS5042.1	6	.	.	.	.	.	.	.	.	.	.	C	8.846	0.943415	0.18281	.	.	ENSG00000132423	ENST00000254759;ENST00000369242;ENST00000369240	T;T;T	0.38401	1.52;1.14;1.14	4.74	2.96	0.34315	.	0.725077	0.11647	N	0.543127	T	0.14270	0.0345	L	0.51422	1.61	0.09310	N	1	B	0.17038	0.02	B	0.13407	0.009	T	0.26710	-1.0095	10	0.39692	T	0.17	-20.1101	8.6516	0.34038	0.0:0.8161:0.0:0.1839	.	363	Q9NZJ6	COQ3_HUMAN	M	363;135;135	ENSP00000254759:V363M;ENSP00000358245:V135M;ENSP00000358243:V135M	ENSP00000254759:V363M	V	-	1	0	COQ3	99924220	0.000000	0.05858	0.001000	0.08648	0.015000	0.08874	0.577000	0.23758	0.531000	0.28639	-0.157000	0.13467	GTG	-	NULL		0.398	COQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COQ3	protein_coding	OTTHUMT00000041602.1	C	NM_017421	-		99817499	-1	no_errors	ENST00000254759	ensembl	human	known	74_37	missense	SNP	0.001	T
MTA3	57504	genome.wustl.edu	37	2	42936306	42936306	+	Intron	DEL	T	T	-			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr2:42936306delT	ENST00000405094.1	+	14	1525				MTA3_ENST00000405592.1_Intron|MTA3_ENST00000406652.1_Intron|MTA3_ENST00000407270.3_3'UTR|MTA3_ENST00000406911.1_3'UTR			Q9BTC8	MTA3_HUMAN	metastasis associated 1 family, member 3							intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(9)|ovary(2)|stomach(1)	15						ctctctttccttttttttttg	0.303																																																	0								ENSG00000057935			53,117,2946		6,0,41,7,103,1401	36.0	33.0	34.0			1.9	0.2	2		36	133,279,6554		17,2,97,24,229,3114	no	utr-3	MTA3	NM_020744.2		23,2,138,31,332,4515	A1A1,A1A2,A1R,A2A2,A2R,RR		5.9144,5.4557,5.7727			42936306	186,396,9500	1662	3762	5424	MTA3	SO:0001627	intron_variant	0				HGNC	AB033092	CCDS46267.1, CCDS62900.1	2p22.1	2013-01-25	2004-12-15		ENSG00000057935	ENSG00000057935		"""GATA zinc finger domain containing"""	23784	protein-coding gene	gene with protein product		609050	"""metastasis associated gene family, member 3"""			12705869, 14613024	Standard	NM_001282755		Approved	KIAA1266	uc002rsq.3	Q9BTC8	OTTHUMG00000150452	ENST00000405094.1:c.1525+70T>-	2.37:g.42936306delT		Somatic	0	59	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	35	10.26	Q9NSP2|Q9ULF4	RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000405094.1	37	NULL		2																																																																																			-	-		0.303	MTA3-017	KNOWN	basic	protein_coding	MTA3	protein_coding	OTTHUMT00000318159.1	T	NM_020744			42936306	+1	no_errors	ENST00000475383	ensembl	human	known	74_37	rna	DEL	0.005	-
ERN2	10595	genome.wustl.edu	37	16	23722303	23722303	+	Missense_Mutation	SNP	A	A	G			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr16:23722303A>G	ENST00000457008.2	-	2	168	c.130T>C	c.(130-132)Tcc>Ccc	p.S44P	CTD-2385L22.1_ENST00000563611.1_RNA|ERN2_ENST00000256797.4_Missense_Mutation_p.S92P					endoplasmic reticulum to nucleus signaling 2											large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		TCCAAGGTGGACACCAGCAGG	0.577																																																	0								ENSG00000134398						126.0	113.0	117.0					16																	23722303		2197	4300	6497	ERN2	SO:0001583	missense	0			-	HGNC	AA527544	CCDS32407.1	16p12.2	2008-02-05	2007-08-14			ENSG00000134398			16942	protein-coding gene	gene with protein product		604034	"""ER to nucleus signalling 2"""			9755171, 11175748	Standard	NM_033266		Approved	IRE1b	uc002dma.4	Q76MJ5		ENST00000457008.2:c.130T>C	16.37:g.23722303A>G	ENSP00000413812:p.Ser44Pro	Somatic	0	14	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	4	60.00		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_KEN_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Quinonprotein_ADH-like_supfam,smart_PQQ_beta_propeller_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PUG-dom,pfscan_Prot_kinase_dom	p.S92P	ENST00000457008.2	37	c.274		16	.	.	.	.	.	.	.	.	.	.	A	20.7	4.033227	0.75504	.	.	ENSG00000134398	ENST00000256797;ENST00000457008	T;T	0.58060	0.36;0.36	5.61	3.28	0.37604	.	0.166985	0.53938	D	0.000042	T	0.68924	0.3054	M	0.88310	2.945	0.51767	D	0.99993	D;P	0.57899	0.981;0.947	P;P	0.55161	0.77;0.607	T	0.72577	-0.4251	10	0.87932	D	0	.	10.9468	0.47306	0.701:0.299:0.0:0.0	.	44;44	E7ETG2;A5YM65	.;.	P	92;44	ENSP00000256797:S92P;ENSP00000413812:S44P	ENSP00000256797:S92P	S	-	1	0	ERN2	23629804	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	5.892000	0.69790	0.372000	0.24591	0.460000	0.39030	TCC	-	superfamily_Quinonprotein_ADH-like_supfam,smart_PQQ_beta_propeller_repeat		0.577	ERN2-002	NOVEL	basic|exp_conf	protein_coding	ERN2	protein_coding	OTTHUMT00000434886.1	A		-		23722303	-1	no_errors	ENST00000256797	ensembl	human	known	74_37	missense	SNP	1.000	G
CDH9	1007	genome.wustl.edu	37	5	26915756	26915756	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr5:26915756G>T	ENST00000231021.4	-	3	677	c.505C>A	c.(505-507)Cct>Act	p.P169T		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	169	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						GACATTTCAGGAACACTGGCA	0.348																																					Melanoma(8;187 585 15745 40864 52829)												0								ENSG00000113100						73.0	73.0	73.0					5																	26915756		2203	4300	6503	CDH9	SO:0001583	missense	0			-	HGNC	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.505C>A	5.37:g.26915756G>T	ENSP00000231021:p.Pro169Thr	Somatic	0	31	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	19	13.64	Q3B7I5	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P169T	ENST00000231021.4	37	c.505	CCDS3893.1	5	.	.	.	.	.	.	.	.	.	.	G	19.93	3.917784	0.73098	.	.	ENSG00000113100	ENST00000231021	T	0.54866	0.55	4.77	4.77	0.60923	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.68293	0.2985	L	0.58810	1.83	0.58432	D	0.999999	D	0.67145	0.996	D	0.73380	0.98	T	0.67956	-0.5536	9	.	.	.	.	16.74	0.85456	0.0:0.0:1.0:0.0	.	169	Q9ULB4	CADH9_HUMAN	T	169	ENSP00000231021:P169T	.	P	-	1	0	CDH9	26951513	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.703000	0.98714	2.352000	0.79861	0.650000	0.86243	CCT	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin		0.348	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH9	protein_coding	OTTHUMT00000207352.1	G	NM_016279	-		26915756	-1	no_errors	ENST00000231021	ensembl	human	known	74_37	missense	SNP	1.000	T
AL132819.1	0	genome.wustl.edu	37	14	99828628	99828628	+	RNA	SNP	C	C	G	rs146092274		TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr14:99828628C>G	ENST00000401354.1	+	0	1																											ctctctgtctctgtgtgtgtg	0.542																																																	0								ENSG00000216173						46.0	45.0	45.0					14																	99828628		692	1591	2283	AL132819.1			0			-	Clone_based_ensembl_gene																													14.37:g.99828628C>G		Somatic	0	24	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	13	27.78		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000401354.1	37	NULL		14																																																																																			-	-		0.542	AL132819.1-201	NOVEL	basic	miRNA	ENSG00000216173	miRNA		C		-		99828628	+1	no_errors	ENST00000401354	ensembl	human	novel	74_37	rna	SNP	0.000	G
IRX2	153572	genome.wustl.edu	37	5	2749852	2749852	+	Missense_Mutation	SNP	T	T	C			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr5:2749852T>C	ENST00000382611.6	-	2	547	c.299A>G	c.(298-300)tAc>tGc	p.Y100C	C5orf38_ENST00000334000.3_5'Flank|C5orf38_ENST00000397835.4_5'Flank|IRX2_ENST00000302057.5_Missense_Mutation_p.Y100C|IRX2_ENST00000502957.1_5'UTR|C5orf38_ENST00000457752.2_5'Flank|C5orf38_ENST00000515640.1_5'Flank|C5orf38_ENST00000505778.1_5'Flank	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	100					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		GTACGGGTGGTAGCTGATGGC	0.682																																																	0								ENSG00000170561						64.0	63.0	63.0					5																	2749852		2203	4299	6502	IRX2	SO:0001583	missense	0			-	HGNC	AF319967	CCDS3868.1	5p15.33	2011-06-20	2007-07-13		ENSG00000170561	ENSG00000170561		"""Homeoboxes / TALE class"""	14359	protein-coding gene	gene with protein product		606198				11435706	Standard	NM_033267		Approved		uc003jdb.3	Q9BZI1	OTTHUMG00000090377	ENST00000382611.6:c.299A>G	5.37:g.2749852T>C	ENSP00000372056:p.Tyr100Cys	Somatic	0	38	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	82	12.77	Q68A19|Q7Z2I7	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom	p.Y100C	ENST00000382611.6	37	c.299	CCDS3868.1	5	.	.	.	.	.	.	.	.	.	.	T	26.9	4.783135	0.90282	.	.	ENSG00000170561	ENST00000382611;ENST00000302057;ENST00000502957	T;T;T	0.73047	-0.49;-0.49;-0.71	5.03	5.03	0.67393	Homeodomain-like (1);	0.000000	0.85682	D	0.000000	T	0.78149	0.4238	M	0.75777	2.31	0.80722	D	1	P	0.46784	0.884	P	0.50270	0.636	T	0.81837	-0.0749	10	0.87932	D	0	-16.6173	14.7689	0.69659	0.0:0.0:0.0:1.0	.	100	Q9BZI1	IRX2_HUMAN	C	100;100;7	ENSP00000372056:Y100C;ENSP00000307006:Y100C;ENSP00000426151:Y7C	ENSP00000307006:Y100C	Y	-	2	0	IRX2	2802852	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.706000	0.54830	1.899000	0.54978	0.533000	0.62120	TAC	-	superfamily_Homeodomain-like		0.682	IRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRX2	protein_coding	OTTHUMT00000206749.2	T		-		2749852	-1	no_errors	ENST00000302057	ensembl	human	known	74_37	missense	SNP	1.000	C
ARHGEF28	64283	genome.wustl.edu	37	5	73189057	73189057	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr5:73189057C>T	ENST00000426542.2	+	27	3622	c.3602C>T	c.(3601-3603)tCt>tTt	p.S1201F	ARHGEF28_ENST00000513042.2_Missense_Mutation_p.S1201F|ARHGEF28_ENST00000287898.5_Missense_Mutation_p.S1201F|ARHGEF28_ENST00000512883.1_Missense_Mutation_p.S165F|ARHGEF28_ENST00000437974.1_Missense_Mutation_p.S1201F|ARHGEF28_ENST00000545377.1_Missense_Mutation_p.S1201F|ARHGEF28_ENST00000296794.6_Missense_Mutation_p.S1201F|ARHGEF28_ENST00000296799.4_Missense_Mutation_p.S888F			Q8N1W1	ARG28_HUMAN	Rho guanine nucleotide exchange factor (GEF) 28	1201					central nervous system neuron axonogenesis (GO:0021955)|intracellular signal transduction (GO:0035556)|neurofilament cytoskeleton organization (GO:0060052)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|RNA binding (GO:0003723)										ACAAGTGAATCTGATGAAGAC	0.438																																																	0								ENSG00000214944						76.0	73.0	74.0					5																	73189057		1933	4117	6050	ARHGEF28	SO:0001583	missense	0			-	HGNC		CCDS47231.1, CCDS47231.2, CCDS54870.1, CCDS58957.1	5q13.2	2012-08-08			ENSG00000214944	ENSG00000214944			30322	protein-coding gene	gene with protein product		612790				9199174, 11058585	Standard	NM_001177693		Approved	RGNEF, p190RhoGEF, RIP2	uc010izf.3	Q8N1W1	OTTHUMG00000162454	ENST00000426542.2:c.3602C>T	5.37:g.73189057C>T	ENSP00000412175:p.Ser1201Phe	Somatic	0	49	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	16	50.00	B2RXG7|B4E3K4|B5MDA3|B7ZW32|E9PC75|Q8NCM7|Q96E37|Q9H6L3|Q9H6W0	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_DH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain	p.S1201F	ENST00000426542.2	37	c.3602	CCDS54870.1	5	.	.	.	.	.	.	.	.	.	.	C	15.06	2.722315	0.48728	.	.	ENSG00000214944	ENST00000296794;ENST00000545377;ENST00000513042;ENST00000287898;ENST00000437974;ENST00000426542;ENST00000296799;ENST00000512883	T;T;T;T;T;T;T;T	0.32753	3.03;3.03;3.02;2.78;3.03;3.02;2.86;1.44	4.87	4.0	0.46444	Pleckstrin homology-type (1);	.	.	.	.	T	0.31420	0.0796	M	0.62016	1.91	0.45867	D	0.998722	B;B;B;B;B	0.25955	0.021;0.04;0.085;0.035;0.138	B;B;B;B;B	0.23852	0.022;0.022;0.022;0.048;0.049	T	0.13282	-1.0515	9	0.56958	D	0.05	.	11.3773	0.49735	0.0:0.848:0.0:0.152	.	888;1201;1201;165;1201	B5MDA3;Q8N1W1;E9PC75;D6RGZ3;Q8N1W1-4	.;RGNEF_HUMAN;.;.;.	F	1201;1201;1201;1201;1201;1201;888;165	ENSP00000296794:S1201F;ENSP00000441913:S1201F;ENSP00000441436:S1201F;ENSP00000287898:S1201F;ENSP00000411459:S1201F;ENSP00000412175:S1201F;ENSP00000296799:S888F;ENSP00000421081:S165F	ENSP00000287898:S1201F	S	+	2	0	RP11-428C6.1	73224813	0.940000	0.31905	0.973000	0.42090	0.946000	0.59487	2.020000	0.41010	1.185000	0.42971	0.655000	0.94253	TCT	-	NULL		0.438	ARHGEF28-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGEF28	protein_coding	OTTHUMT00000368975.1	C		-		73189057	+1	no_errors	ENST00000545377	ensembl	human	known	74_37	missense	SNP	0.996	T
SRI	6717	genome.wustl.edu	37	7	87849305	87849305	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr7:87849305delA	ENST00000265729.2	-	1	89	c.37delT	c.(37-39)tacfs	p.Y14fs	SRI_ENST00000419179.1_Frame_Shift_Del_p.Y14fs|AC003991.3_ENST00000594469.1_RNA|SRI_ENST00000394641.3_Intron|CTB-167B5.1_ENST00000520993.1_RNA|SRI_ENST00000490437.1_Intron|SRI_ENST00000431660.1_Intron	NM_003130.3	NP_003121.1	P30626	SORCN_HUMAN	sorcin	14					action potential (GO:0001508)|calcium ion transport (GO:0006816)|cytoplasmic sequestering of transcription factor (GO:0042994)|heart development (GO:0007507)|intracellular sequestering of iron ion (GO:0006880)|muscle organ development (GO:0007517)|negative regulation of heart rate (GO:0010459)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|proteolysis (GO:0006508)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart contraction (GO:0008016)|regulation of high voltage-gated calcium channel activity (GO:1901841)|regulation of relaxation of muscle (GO:1901077)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of striated muscle contraction (GO:0006942)|signal transduction (GO:0007165)|transport (GO:0006810)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|Z disc (GO:0030018)	calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|ion channel binding (GO:0044325)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|receptor binding (GO:0005102)			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	5	Esophageal squamous(14;0.00202)					CCTGGGTAGTACCCGCCGCCG	0.756																																																	0								ENSG00000075142						4.0	5.0	5.0					7																	87849305		1889	3758	5647	SRI	SO:0001589	frameshift_variant	0				HGNC	M32886	CCDS5612.1, CCDS47638.1, CCDS59063.1	7q21.1	2014-09-17			ENSG00000075142	ENSG00000075142		"""EF-hand domain containing"""	11292	protein-coding gene	gene with protein product		182520				2901906	Standard	NM_001256891		Approved		uc003ujq.2	P30626	OTTHUMG00000157267	ENST00000265729.2:c.37delT	7.37:g.87849305delA	ENSP00000265729:p.Tyr14fs	Somatic	0	22	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	15	11.76	A8MTH6|B4DKK2|D6W5Q0	Frame_Shift_Del	DEL	NA	NA	NA	NA	NA	NA	smart_EF_hand_dom,pfscan_EF_hand_dom	p.Y13fs	ENST00000265729.2	37	c.37	CCDS5612.1	7																																																																																			-	NULL		0.756	SRI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRI	protein_coding	OTTHUMT00000253680.1	A	NM_003130			87849305	-1	no_errors	ENST00000265729	ensembl	human	known	74_37	frame_shift_del	DEL	0.995	-
ENOPH1	58478	genome.wustl.edu	37	4	83378094	83378094	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr4:83378094G>T	ENST00000273920.3	+	5	817	c.549G>T	c.(547-549)aaG>aaT	p.K183N	ENOPH1_ENST00000509635.1_Missense_Mutation_p.K95N	NM_021204.3	NP_067027.1			enolase-phosphatase 1											central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|skin(1)	13						TTGATACCAAGATTGGACACA	0.423																																																	0								ENSG00000145293						162.0	150.0	154.0					4																	83378094		2203	4300	6503	ENOPH1	SO:0001583	missense	0			-	HGNC		CCDS3594.1, CCDS75154.1	4q21.3	2013-05-29			ENSG00000145293	ENSG00000145293	3.1.3.77		24599	protein-coding gene	gene with protein product	"""Enolase-phosphatase E1"", ""acireductone synthase"""					15843022	Standard	XM_005263168		Approved	MASA, E1, mtnC	uc003hmv.3	Q9UHY7	OTTHUMG00000130295	ENST00000273920.3:c.549G>T	4.37:g.83378094G>T	ENSP00000273920:p.Lys183Asn	Somatic	0	73	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	29	9.38		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_Enolase-ppase_E1,tigrfam_HAD-SF_hydro_IA	p.K183N	ENST00000273920.3	37	c.549	CCDS3594.1	4	.	.	.	.	.	.	.	.	.	.	g	8.956	0.969472	0.18659	.	.	ENSG00000145293	ENST00000273920;ENST00000456931;ENST00000509635	T;T	0.05996	3.36;3.36	5.37	3.64	0.41730	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (2);2,3-diketo-5-methylthio-1-phosphopentane phosphatase (1);	0.154621	0.64402	D	0.000020	T	0.02230	0.0069	N	0.04148	-0.265	0.35643	D	0.811102	B	0.12630	0.006	B	0.11329	0.006	T	0.37731	-0.9693	10	0.11485	T	0.65	-17.4936	1.8802	0.03226	0.1962:0.1554:0.4882:0.1601	.	183	Q9UHY7	ENOPH_HUMAN	N	183;183;95	ENSP00000273920:K183N;ENSP00000422005:K95N	ENSP00000273920:K183N	K	+	3	2	ENOPH1	83597118	0.980000	0.34600	1.000000	0.80357	0.942000	0.58702	0.124000	0.15728	0.749000	0.32854	0.585000	0.79938	AAG	-	pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_Enolase-ppase_E1,tigrfam_HAD-SF_hydro_IA		0.423	ENOPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENOPH1	protein_coding	OTTHUMT00000252638.2	G	NM_021204	-		83378094	+1	no_errors	ENST00000273920	ensembl	human	known	74_37	missense	SNP	0.997	T
PCDHAC1	56135	genome.wustl.edu	37	5	140307701	140307701	+	Silent	SNP	C	C	A			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr5:140307701C>A	ENST00000253807.2	+	1	1224	c.1224C>A	c.(1222-1224)atC>atA	p.I408I	PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHAC1_ENST00000409700.3_Silent_p.I408I|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000506939.2_Intron	NM_018898.3	NP_061721.2	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1	408	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGAGCAGATCAGTGAATACC	0.517																																																	0								ENSG00000248383						81.0	80.0	80.0					5																	140307701		2203	4300	6503	PCDHAC1	SO:0001819	synonymous_variant	0			-	HGNC	AF152473	CCDS4241.1	5q31	2010-11-26			ENSG00000248383	ENSG00000248383		"""Cadherins / Protocadherins : Clustered"""	8676	other	complex locus constituent	"""PCDH-ALPHA-C1"""	606320				10380929	Standard	NM_018898		Approved			Q9H158	OTTHUMG00000129603	ENST00000253807.2:c.1224C>A	5.37:g.140307701C>A		Somatic	0	33	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	17	34.62	Q9Y5F5|Q9Y5I5	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.I408	ENST00000253807.2	37	c.1224	CCDS4241.1	5																																																																																			-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.517	PCDHAC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDHAC1	protein_coding	OTTHUMT00000251798.1	C	NM_018898	-		140307701	+1	no_errors	ENST00000253807	ensembl	human	known	74_37	silent	SNP	0.000	A
PCDHGB3	56102	genome.wustl.edu	37	5	140806086	140806086	+	Intron	SNP	C	C	T			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr5:140806086C>T	ENST00000576222.1	+	1	2546				PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB8P_ENST00000502926.1_RNA|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA10_ENST00000398610.2_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTACCGTGAACACGGAGAATG	0.458																																																	0								ENSG00000248449																																			PCDHGB8P	SO:0001627	intron_variant	0			-	HGNC	AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.2415+53710C>T	5.37:g.140806086C>T		Somatic	0	28	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	5	61.54	A7E229|Q9Y5C7	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000576222.1	37	NULL	CCDS58980.1	5																																																																																			-	-		0.458	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB8P	protein_coding	OTTHUMT00000437094.1	C	NM_018924	-		140806086	+1	no_errors	ENST00000502926	ensembl	human	known	74_37	rna	SNP	0.225	T
NPAP1	23742	genome.wustl.edu	37	15	24921079	24921079	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr15:24921079G>A	ENST00000329468.2	+	1	539	c.65G>A	c.(64-66)cGt>cAt	p.R22H		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	22					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											GGGCCAGGGCGTGGCGCCCCC	0.687																																																	0								ENSG00000185823						6.0	8.0	7.0					15																	24921079		1799	3770	5569	NPAP1	SO:0001583	missense	0			-	HGNC	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.65G>A	15.37:g.24921079G>A	ENSP00000333735:p.Arg22His	Somatic	0	44	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	16	42.86		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.R22H	ENST00000329468.2	37	c.65	CCDS10015.1	15	.	.	.	.	.	.	.	.	.	.	.	13.53	2.265171	0.40095	.	.	ENSG00000185823	ENST00000329468	T	0.07021	3.23	2.06	-4.12	0.03916	.	.	.	.	.	T	0.04272	0.0118	L	0.29908	0.895	0.09310	N	1	D	0.56968	0.978	B	0.38803	0.282	T	0.16276	-1.0408	9	0.44086	T	0.13	.	2.6744	0.05077	0.4026:0.0:0.2436:0.3538	.	22	Q9NZP6	CO002_HUMAN	H	22	ENSP00000333735:R22H	ENSP00000333735:R22H	R	+	2	0	C15orf2	22472172	0.054000	0.20591	0.000000	0.03702	0.012000	0.07955	0.412000	0.21131	-1.420000	0.02009	-0.516000	0.04426	CGT	-	NULL		0.687	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPAP1	protein_coding	OTTHUMT00000251253.1	G	NM_018958	-		24921079	+1	no_errors	ENST00000329468	ensembl	human	known	74_37	missense	SNP	0.000	A
APOBEC3F	200316	genome.wustl.edu	37	22	39439095	39439095	+	Splice_Site	SNP	G	G	A			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr22:39439095G>A	ENST00000308521.5	+	2	528	c.171G>A	c.(169-171)caG>caA	p.Q57Q	APOBEC3F_ENST00000381565.2_Splice_Site_p.Q57Q|APOBEC3G_ENST00000452957.2_Intron|APOBEC3F_ENST00000491387.1_3'UTR	NM_145298.5	NP_660341.2	Q8IUX4	ABC3F_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3F	57					base conversion or substitution editing (GO:0016553)|cytidine deamination (GO:0009972)|defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|DNA demethylation (GO:0080111)|innate immune response (GO:0045087)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transposition (GO:0010529)|negative regulation of viral genome replication (GO:0045071)|negative regulation of viral process (GO:0048525)|positive regulation of defense response to virus by host (GO:0002230)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|ribonucleoprotein complex (GO:0030529)	cytidine deaminase activity (GO:0004126)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|skin(2)	16	Melanoma(58;0.04)					TTCGAGGCCAGGTACCACCCG	0.562																																																	0								ENSG00000128394						60.0	53.0	56.0					22																	39439095		2203	4300	6503	APOBEC3F	SO:0001630	splice_region_variant	0			-	HGNC	BC038808	CCDS33648.1, CCDS33649.1	22q13.1-q13.2	2008-05-15			ENSG00000128394	ENSG00000128394		"""Apolipoprotein B mRNA editing enzymes"""	17356	protein-coding gene	gene with protein product		608993				11863358, 17121840	Standard	NM_145298		Approved	ARP8, BK150C2.4.MRNA, KA6	uc003aww.3	Q8IUX4	OTTHUMG00000151080	ENST00000308521.5:c.171+1G>A	22.37:g.39439095G>A		Somatic	0	78	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	69	9.21	B0QYD4|Q45F03|Q6ICH3|Q7Z2N2|Q7Z2N5	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_APOBEC_N,pfam_APOBEC_C,superfamily_Cytidine_deaminase-like	p.Q57	ENST00000308521.5	37	c.171	CCDS33648.1	22																																																																																			-	pfam_APOBEC_N		0.562	APOBEC3F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOBEC3F	protein_coding	OTTHUMT00000321216.1	G	NM_145298	-	Silent	39439095	+1	no_errors	ENST00000308521	ensembl	human	known	74_37	silent	SNP	0.066	A
RPLP2	6181	genome.wustl.edu	37	11	810010	810018	+	5'UTR	DEL	CTCCGCCGC	CTCCGCCGC	-	rs11540443|rs17155725|rs542687757	byFrequency	TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	CTCCGCCGC	CTCCGCCGC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr11:810010_810018delCTCCGCCGC	ENST00000321153.4	+	0	364_372				PIDD_ENST00000534649.1_5'Flank|SNORA52_ENST00000362915.1_RNA|RPLP2_ENST00000530797.1_5'UTR|RPLP2_ENST00000532004.1_3'UTR	NM_001004.3	NP_000995.1	P05387	RLA2_HUMAN	ribosomal protein, large, P2						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			lung(1)	1		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;1.45e-25)|Epithelial(43;1.17e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.76e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CGTGAGACTTCTCCGCCGCCTCCGCCGCA	0.713														1438	0.287141	0.0877	0.2017	5008	,	,		15128	0.4018		0.3161	False		,,,				2504	0.4693																0								ENSG00000177600																																			RPLP2	SO:0001623	5_prime_UTR_variant	0				HGNC	M17887	CCDS7717.1	11p15.5	2011-07-29			ENSG00000177600	ENSG00000177600		"""L ribosomal proteins"""	10377	protein-coding gene	gene with protein product	"""60S acidic ribosomal protein P2"", ""acidic ribosomal phosphoprotein P2"""	180530		D11S2243E		3323886	Standard	NM_001004		Approved	P2, RPP2, MGC71408, LP2	uc001lrq.1	P05387	OTTHUMG00000133317	ENST00000321153.4:c.-23CTCCGCCGC>-	11.37:g.810019_810027delCTCCGCCGC		Somatic	NA	NA	NA		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	Q6FG96	RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000321153.4	37	NULL	CCDS7717.1	11																																																																																			-	-		0.713	RPLP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPLP2	protein_coding	OTTHUMT00000257115.2	CTCCGCCGC	NM_001004			810018	+1	no_errors	ENST00000532004	ensembl	human	known	74_37	rna	DEL	0.000:0.000:0.006:0.006:0.009:0.013:0.013:0.025:0.024	-
SLC25A13	10165	genome.wustl.edu	37	7	95814251	95814251	+	Missense_Mutation	SNP	A	A	G			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr7:95814251A>G	ENST00000265631.5	-	10	1142	c.1006T>C	c.(1006-1008)Tct>Cct	p.S336P	SLC25A13_ENST00000542654.1_Missense_Mutation_p.S228P|SLC25A13_ENST00000416240.2_Missense_Mutation_p.S337P			Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	336					aspartate transport (GO:0015810)|ATP biosynthetic process (GO:0006754)|carbohydrate metabolic process (GO:0005975)|cellular respiration (GO:0045333)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|L-glutamate transport (GO:0015813)|malate-aspartate shuttle (GO:0043490)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|transporter activity (GO:0005215)			breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	CCAGCAACAGAACCCAGACCA	0.423																																																	0								ENSG00000004864						102.0	101.0	101.0					7																	95814251		2203	4300	6503	SLC25A13	SO:0001583	missense	0			-	HGNC	AF118838	CCDS5645.1, CCDS55130.1	7q21.3	2013-05-22	2012-03-29		ENSG00000004864	ENSG00000004864		"""Solute carriers"", ""EF-hand domain containing"""	10983	protein-coding gene	gene with protein product	"""mitochondrial aspartate glutamate carrier 2"""	603859	"""solute carrier family 25, member 13 (citrin)"""	CTLN2		10369257	Standard	NM_014251		Approved	CITRIN, ARALAR2	uc003uog.4	Q9UJS0	OTTHUMG00000023074	ENST00000265631.5:c.1006T>C	7.37:g.95814251A>G	ENSP00000265631:p.Ser336Pro	Somatic	0	58	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	62	27.91	O14566|O14575|Q546F9|Q9NZW1|Q9UNI7	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_EF_hand_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	p.S337P	ENST00000265631.5	37	c.1009	CCDS5645.1	7	.	.	.	.	.	.	.	.	.	.	A	19.73	3.881718	0.72294	.	.	ENSG00000004864	ENST00000265631;ENST00000416240;ENST00000542654	T;T;T	0.80123	-1.34;-1.34;-1.34	4.63	4.63	0.57726	Mitochondrial carrier domain (2);	0.132088	0.52532	D	0.000073	D	0.87752	0.6256	M	0.68728	2.09	0.80722	D	1	D;D;D	0.64830	0.993;0.994;0.994	D;D;D	0.71656	0.956;0.974;0.974	D	0.88986	0.3411	10	0.66056	D	0.02	-23.5656	14.5091	0.67772	1.0:0.0:0.0:0.0	.	228;337;336	F5GX33;Q546F9;Q9UJS0	.;.;CMC2_HUMAN	P	336;337;228	ENSP00000265631:S336P;ENSP00000400101:S337P;ENSP00000440484:S228P	ENSP00000265631:S336P	S	-	1	0	SLC25A13	95652187	1.000000	0.71417	0.987000	0.45799	0.912000	0.54170	7.179000	0.77665	2.089000	0.63090	0.482000	0.46254	TCT	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier		0.423	SLC25A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A13	protein_coding	OTTHUMT00000059395.2	A	NM_014251	-		95814251	-1	no_errors	ENST00000416240	ensembl	human	known	74_37	missense	SNP	1.000	G
AC079610.1	0	genome.wustl.edu	37	2	213628287	213628350	+	RNA	DEL	ATATATATGTGTATATATATATATATATATATGTGTGTGTATATATATATATATATATATGTGT	ATATATATGTGTATATATATATATATATATATGTGTGTGTATATATATATATATATATATGTGT	-	rs71397179|rs192711902|rs34611679|rs9678288|rs9678289|rs535180996|rs35039040|rs76851700|rs7580453|rs9678290|rs13431748|rs13431749|rs13033068|rs57305053|rs555894053|rs7580455|rs35026865		TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	ATATATATGTGTATATATATATATATATATATGTGTGTGTATATATATATATATATATATGTGT	ATATATATGTGTATATATATATATATATATATGTGTGTGTATATATATATATATATATATGTGT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr2:213628287_213628350delATATATATGTGTATATATATATATATATATATGTGTGTGTATATATATATATATATATATGTGT	ENST00000415387.1	-	0	381				AC093865.1_ENST00000408461.1_RNA																							atgtatgtatatatatatgtgtatatatatatatatatatatgtgtgtgtatatatatatatatatatatgtgtatatatatat	0.254																																																	0								ENSG00000221388																																			AC093865.1			0				Clone_based_ensembl_gene																													2.37:g.213628287_213628350delATATATATGTGTATATATATATATATATATATGTGTGTGTATATATATATATATATATATGTGT		Somatic	NA	NA	NA		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA		RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000415387.1	37	NULL		2																																																																																			-	-		0.254	AC079610.1-001	KNOWN	basic	sense_overlapping	ENSG00000221388	sense_overlapping	OTTHUMT00000337265.1	ATATATATGTGTATATATATATATATATATATGTGTGTGTATATATATATATATATATATGTGT				213628350	-1	no_errors	ENST00000408461	ensembl	human	novel	74_37	rna	DEL	0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.078:0.105:0.126:0.142:0.155:0.163:0.169:0.171:0.171:0.168:0.162:0.154:0.141:0.124:0.103:0.097:0.089:0.078:0.063:0.044:0.018:0.009:0.007	-
IRF9	10379	genome.wustl.edu	37	14	24633132	24633134	+	In_Frame_Del	DEL	AGC	AGC	-	rs199740615		TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	AGC	AGC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr14:24633132_24633134delAGC	ENST00000396864.3	+	5	828_830	c.541_543delAGC	c.(541-543)agcdel	p.S187del	IRF9_ENST00000557894.1_In_Frame_Del_p.S85del|RP11-468E2.4_ENST00000558468.1_3'UTR	NM_006084.4	NP_006075.3	Q00978	IRF9_HUMAN	interferon regulatory factor 9	187	Poly-Ser.				cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(265;0.00853)		AGACATTGGGagcagcagcagca	0.567																																																	0								ENSG00000213928			167,4097		0,167,1965						-2.5	0.0			53	342,7912		0,342,3785	no	coding	IRF9	NM_006084.4		0,509,5750	A1A1,A1R,RR		4.1434,3.9165,4.0661				509,12009				IRF9	SO:0001651	inframe_deletion	0				HGNC	M87503	CCDS9615.1	14q11.2	2007-07-06	2007-07-06	2007-07-06	ENSG00000213928	ENSG00000213928			6131	protein-coding gene	gene with protein product		147574	"""interferon-stimulated transcription factor 3, gamma (48kD)"", ""interferon-stimulated transcription factor 3, gamma 48kDa"""	ISGF3G		1630447, 10199920	Standard	NM_006084		Approved		uc001wmq.3	Q00978	OTTHUMG00000028799	ENST00000396864.3:c.541_543delAGC	14.37:g.24633141_24633143delAGC	ENSP00000380073:p.Ser187del	Somatic	0	14	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	8	27.27	D3DS61	In_Frame_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_Interferon_reg_fact_DNA-bd_dom,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom	p.S184in_frame_del	ENST00000396864.3	37	c.541_543	CCDS9615.1	14																																																																																			-	NULL		0.567	IRF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRF9	protein_coding	OTTHUMT00000071927.2	AGC				24633134	+1	no_errors	ENST00000396864	ensembl	human	known	74_37	in_frame_del	DEL	0.064:0.076:0.081	-
AP5B1	91056	genome.wustl.edu	37	11	65547285	65547285	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr11:65547285G>T	ENST00000532090.2	-	2	889	c.679C>A	c.(679-681)Cta>Ata	p.L227I		NM_138368.4	NP_612377.4	Q2VPB7	AP5B1_HUMAN	adaptor-related protein complex 5, beta 1 subunit	227	Leu-rich.				endosomal transport (GO:0016197)|protein transport (GO:0015031)	AP-type membrane coat adaptor complex (GO:0030119)|lysosomal membrane (GO:0005765)				lung(1)	1						TCCTCCACTAGTGTCCAATCC	0.667																																																	0								ENSG00000254470						41.0	50.0	47.0					11																	65547285		2049	4171	6220	AP5B1	SO:0001583	missense	0			-	HGNC	JQ313135	CCDS58146.1	11q13.1	2012-02-29			ENSG00000254470	ENSG00000254470			25104	protein-coding gene	gene with protein product		614367				22022230	Standard	NM_138368		Approved	PP1030, AP-5, DKFZp761E198	uc031qbm.1	Q2VPB7	OTTHUMG00000166593	ENST00000532090.2:c.679C>A	11.37:g.65547285G>T	ENSP00000454303:p.Leu227Ile	Somatic	0	54	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	A1L0S6|H6WUK2|Q0D2Q2|Q8N3J7|Q8WYH6	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.L227I	ENST00000532090.2	37	c.679	CCDS58146.1	11																																																																																			-	NULL		0.667	AP5B1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	AP5B1	protein_coding	OTTHUMT00000390636.2	G	NM_138368	-		65547285	-1	no_errors	ENST00000532090	ensembl	human	novel	74_37	missense	SNP	0.014	T
KRTAP9-9	81870	genome.wustl.edu	37	17	39411670	39411671	+	In_Frame_Ins	INS	-	-	ACCTGCTGCAGGACC	rs67700678|rs540633489	byFrequency	TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr17:39411670_39411671insACCTGCTGCAGGACC	ENST00000394008.1	+	1	35_36	c.33_34insACCTGCTGCAGGACC	c.(34-36)acc>ACCTGCTGCAGGACCacc	p.12_12T>TCCRTT		NM_030975.2	NP_112237.2	Q9BYP9	KRA99_HUMAN	keratin associated protein 9-9	12	14 X 5 AA repeats of C-C-[RQVGE]- [SPSTNQ]-[TASL].					keratin filament (GO:0045095)				endometrium(3)|skin(2)|upper_aerodigestive_tract(1)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			GCTGTCAGCCTACCTGCTGCAG	0.604														2488	0.496805	0.298	0.647	5008	,	,		16406	0.4196		0.5805	False		,,,				2504	0.6524																0								ENSG00000198083																																			KRTAP9-9	SO:0001652	inframe_insertion	0				HGNC	AJ406951	CCDS54127.1	17q21.2	2010-06-03			ENSG00000198083	ENSG00000198083		"""Keratin associated proteins"""	16773	protein-coding gene	gene with protein product			"""keratin associated protein 9-5"""	KRTAP9-5		11279113	Standard	NM_030975		Approved	KAP9.9, KAP9.5	uc021txh.1	Q9BYP9	OTTHUMG00000133602	ENST00000394008.1:c.34_48dupACCTGCTGCAGGACC	17.37:g.39411670_39411671insACCTGCTGCAGGACC	Exception_encountered	Somatic	NA	NA	NA		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	B5MDD6|Q9BYQ1	In_Frame_Ins	INS	NA	NA	NA	NA	NA	NA	NULL	p.15in_frame_insTTCCR	ENST00000394008.1	37	c.33_34	CCDS54127.1	17																																																																																			-	NULL		0.604	KRTAP9-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP9-9	protein_coding	OTTHUMT00000257710.1	-	NM_030975			39411671	+1	no_errors	ENST00000394008	ensembl	human	known	74_37	in_frame_ins	INS	0.053:0.940	ACCTGCTGCAGGACC
ITPR1	3708	genome.wustl.edu	37	3	4856236	4856236	+	Missense_Mutation	SNP	C	C	A			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr3:4856236C>A	ENST00000443694.2	+	55	7646	c.7646C>A	c.(7645-7647)cCg>cAg	p.P2549Q	AC018816.3_ENST00000489771.1_Intron|AC018816.3_ENST00000441894.1_Intron|ITPR1_ENST00000423119.2_Missense_Mutation_p.P2516Q|ITPR1_ENST00000544951.1_Missense_Mutation_p.P527Q|ITPR1_ENST00000354582.6_Missense_Mutation_p.P2549Q|ITPR1_ENST00000456211.2_Missense_Mutation_p.P2501Q|ITPR1_ENST00000302640.8_Missense_Mutation_p.P2549Q|ITPR1_ENST00000357086.4_Missense_Mutation_p.P2516Q|AC018816.3_ENST00000449914.1_Intron|ITPR1_ENST00000463980.1_3'UTR			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	2564					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	CTCAGGAAGCCGTCCAAAGAG	0.562																																																	0								ENSG00000150995						53.0	55.0	55.0					3																	4856236		1987	4142	6129	ITPR1	SO:0001583	missense	0			-	HGNC	D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.7646C>A	3.37:g.4856236C>A	ENSP00000401671:p.Pro2549Gln	Somatic	0	28	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	20	16.67	E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif	p.P2549Q	ENST00000443694.2	37	c.7646	CCDS54551.1	3	.	.	.	.	.	.	.	.	.	.	C	28.0	4.878249	0.91664	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000426160;ENST00000357086;ENST00000456211;ENST00000544951;ENST00000443694	D;D;D;D;D;D;D	0.97811	-2.97;-2.97;-2.97;-2.97;-2.97;-4.55;-2.97	4.93	4.93	0.64822	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98880	0.9621	M	0.88570	2.965	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.85130	0.997;0.993;0.995	D	0.99564	1.0969	10	0.54805	T	0.06	.	18.157	0.89694	0.0:1.0:0.0:0.0	.	527;2564;2516	B7ZMI3;Q14643;G5E9P1	.;ITPR1_HUMAN;.	Q	2564;2549;2549;2516;1010;2516;2501;527;2549	ENSP00000306253:P2549Q;ENSP00000346595:P2549Q;ENSP00000405934:P2516Q;ENSP00000349597:P2516Q;ENSP00000397885:P2501Q;ENSP00000440564:P527Q;ENSP00000401671:P2549Q	ENSP00000306253:P2549Q	P	+	2	0	ITPR1	4831236	1.000000	0.71417	0.940000	0.37924	0.951000	0.60555	7.414000	0.80117	2.269000	0.75478	0.650000	0.86243	CCG	-	pfam_Ion_trans_dom		0.562	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	ITPR1	protein_coding	OTTHUMT00000337982.3	C	NM_002222	-		4856236	+1	no_errors	ENST00000302640	ensembl	human	known	74_37	missense	SNP	1.000	A
GPR174	84636	genome.wustl.edu	37	X	78427344	78427344	+	Silent	SNP	T	T	C			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chrX:78427344T>C	ENST00000276077.1	+	1	876	c.840T>C	c.(838-840)ctT>ctC	p.L280L		NM_032553.1	NP_115942.1	Q9BXC1	GP174_HUMAN	G protein-coupled receptor 174	280						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						CATTGTGTCTTGCTAGTCTGA	0.393										HNSCC(63;0.18)																																							0								ENSG00000147138						175.0	148.0	157.0					X																	78427344		2203	4300	6503	GPR174	SO:0001819	synonymous_variant	0			-	HGNC	AF345567	CCDS14443.1	Xq13.3	2012-08-21			ENSG00000147138	ENSG00000147138		"""GPCR / Class A : Orphans"""	30245	protein-coding gene	gene with protein product		300903					Standard	NM_032553		Approved	FKSG79	uc004edg.1	Q9BXC1	OTTHUMG00000021898	ENST00000276077.1:c.840T>C	X.37:g.78427344T>C		Somatic	0	23	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	7	63.16	Q2M3F7	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.L280	ENST00000276077.1	37	c.840	CCDS14443.1	X																																																																																			-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.393	GPR174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR174	protein_coding	OTTHUMT00000057327.1	T	NM_032553	-		78427344	+1	no_errors	ENST00000276077	ensembl	human	known	74_37	silent	SNP	0.987	C
CWC22	57703	genome.wustl.edu	37	2	180830631	180830633	+	In_Frame_Del	DEL	TCT	TCT	-	rs375986468		TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	TCT	TCT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr2:180830631_180830633delTCT	ENST00000410053.3	-	12	1586_1588	c.1287_1289delAGA	c.(1285-1290)gaagag>gag	p.429_430EE>E	CWC22_ENST00000295749.6_In_Frame_Del_p.429_430EE>E	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein	429	Poly-Glu.				mRNA splicing, via spliceosome (GO:0000398)|regulation of mRNA splicing, via spliceosome (GO:0048024)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	RNA binding (GO:0003723)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						tccctcttcctcttcttcttcct	0.345																																																	0								ENSG00000163510																																			CWC22	SO:0001651	inframe_deletion	0				HGNC		CCDS46465.1	2q31.3	2014-07-03	2014-07-03		ENSG00000163510	ENSG00000163510			29322	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein b"""	615186	"""CWC22 spliceosome-associated protein homolog (S. cerevisiae)"""			9136012, 23236153	Standard	NM_020943		Approved	KIAA1604, EIF4GL, fSAPb, NCM	uc010frh.1	Q9HCG8	OTTHUMG00000154244	ENST00000410053.3:c.1287_1289delAGA	2.37:g.180830637_180830639delTCT	ENSP00000387006:p.Glu432del	Somatic	0	74	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	13	13.33	Q05DC2|Q4G135|Q52LF0|Q6PEX2|Q7Z6I0|Q9H5L3|Q9H6Q6	In_Frame_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI	p.E432in_frame_del	ENST00000410053.3	37	c.1289_1287	CCDS46465.1	2																																																																																			-	NULL		0.345	CWC22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CWC22	protein_coding	OTTHUMT00000334537.1	TCT	NM_020943			180830633	-1	no_errors	ENST00000295749	ensembl	human	known	74_37	in_frame_del	DEL	1.000:1.000:0.963	-
EP400	57634	genome.wustl.edu	37	12	132547138	132547138	+	Silent	SNP	A	A	G	rs111782215|rs561398509	byFrequency	TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr12:132547138A>G	ENST00000333577.4	+	48	8443	c.8334A>G	c.(8332-8334)caA>caG	p.Q2778Q	EP400_ENST00000332482.4_Silent_p.Q2705Q|EP400_ENST00000389561.2_Silent_p.Q2742Q|EP400_ENST00000389562.2_Silent_p.Q2741Q|EP400_ENST00000330386.6_Silent_p.Q2661Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2778	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2741Q(3)|p.Q2742Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcaacagcagcagc	0.602													G|||	74	0.0147764	0.028	0.0086	5008	,	,		14914	0.0079		0.0119	False		,,,				2504	0.0112																4	Substitution - coding silent(4)	prostate(2)|endometrium(1)|kidney(1)						ENSG00000183495						48.0	40.0	43.0					12																	132547138		2203	4300	6503	EP400	SO:0001819	synonymous_variant	0			-	HGNC	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8334A>G	12.37:g.132547138A>G		Somatic	0	27	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	22	15.38	O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.Q2778	ENST00000333577.4	37	c.8334		12																																																																																			-	NULL		0.602	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	EP400	protein_coding		A	NM_015409	rs111782215		132547138	+1	no_errors	ENST00000333577	ensembl	human	known	74_37	silent	SNP	0.021	G
NCAN	1463	genome.wustl.edu	37	19	19338426	19338426	+	Missense_Mutation	SNP	C	C	T	rs111534277	byFrequency	TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr19:19338426C>T	ENST00000252575.6	+	8	2096	c.1997C>T	c.(1996-1998)aCg>aTg	p.T666M	NCAN_ENST00000538881.1_Missense_Mutation_p.T117M	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	666					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|regulation of synapse structural plasticity (GO:0051823)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)		Hyaluronan(DB08818)	GCCACCGCCACGGCTCCACCC	0.612													C|||	3	0.000599042	0.0023	0.0	5008	,	,		17435	0.0		0.0	False		,,,				2504	0.0																0								ENSG00000130287	C	MET/THR	6,4400	11.4+/-27.6	0,6,2197	93.0	96.0	95.0		1997	4.4	0.0	19	dbSNP_132	95	0,8600		0,0,4300	yes	missense	NCAN	NM_004386.2	81	0,6,6497	TT,TC,CC		0.0,0.1362,0.0461	benign	666/1322	19338426	6,13000	2203	4300	6503	NCAN	SO:0001583	missense	0			-	HGNC	AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"", ""Endogenous ligands"""	2465	protein-coding gene	gene with protein product	"""neurocan proteoglycan"""	600826	"""chondroitin sulfate proteoglycan 3"""	CSPG3		1326557, 21353194	Standard	NM_004386		Approved		uc002nlz.3	O14594		ENST00000252575.6:c.1997C>T	19.37:g.19338426C>T	ENSP00000252575:p.Thr666Met	Somatic	0	58	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	53	10.17	Q9UPK6	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Link,pfam_C-type_lectin,pfam_Sushi_SCR_CCP,pfam_Ig_V-set,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Link,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link,prints_AntifreezeII	p.T666M	ENST00000252575.6	37	c.1997	CCDS12397.1	19	.	.	.	.	.	.	.	.	.	.	C	10.55	1.380303	0.24944	0.001362	0.0	ENSG00000130287	ENST00000539499;ENST00000252575;ENST00000538881	D;D	0.85339	-1.79;-1.97	4.4	4.4	0.53042	.	0.623617	0.13362	N	0.393600	D	0.82296	0.5006	L	0.27053	0.805	0.09310	N	1	D;D	0.69078	0.997;0.989	P;P	0.50754	0.649;0.548	T	0.74253	-0.3725	10	0.54805	T	0.06	.	12.6975	0.57012	0.0:1.0:0.0:0.0	.	680;666	Q4LE67;O14594	.;NCAN_HUMAN	M	680;666;117	ENSP00000252575:T666M;ENSP00000442202:T117M	ENSP00000252575:T666M	T	+	2	0	NCAN	19199426	0.000000	0.05858	0.004000	0.12327	0.006000	0.05464	0.795000	0.26972	2.453000	0.82957	0.561000	0.74099	ACG	-	NULL		0.612	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAN	protein_coding	OTTHUMT00000460111.2	C	NM_004386	rs111534277		19338426	+1	no_errors	ENST00000252575	ensembl	human	known	74_37	missense	SNP	0.006	T
Unknown	0	genome.wustl.edu	37	16	33489916	33489916	+	IGR	SNP	C	C	A			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr16:33489916C>A								RP11-23E10.4 (123103 upstream) : BMS1P8 (7246 downstream)																							TCCTCCTCCTCCTTCTGCTTG	0.512																																																	0								ENSG00000260518																																			BMS1P8	SO:0001628	intergenic_variant	0			-	HGNC																													16.37:g.33489916C>A		Somatic	0	15	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	13	31.58		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL		37	NULL		16																																																																																			-	-	0	0.512					BMS1P8			C		-		33489916	-1	no_errors	ENST00000567036	ensembl	human	known	74_37	rna	SNP	1.000	A
CCAR1	55749	genome.wustl.edu	37	10	70502216	70502216	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr10:70502216G>T	ENST00000265872.6	+	6	527	c.408G>T	c.(406-408)agG>agT	p.R136S	CCAR1_ENST00000535016.1_Missense_Mutation_p.R121S|CCAR1_ENST00000543719.1_Missense_Mutation_p.R121S	NM_001282959.1|NM_001282960.1|NM_018237.2	NP_001269888.1|NP_001269889.1|NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	136					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						CAACACCAAGGTCCAGTCAAC	0.438																																																	0								ENSG00000060339						221.0	185.0	197.0					10																	70502216		2203	4300	6503	CCAR1	SO:0001583	missense	0			-	HGNC	AY249140	CCDS7282.1, CCDS60547.1	10q22.1	2004-02-19			ENSG00000060339	ENSG00000060339			24236	protein-coding gene	gene with protein product		612569				12816952	Standard	NM_018237		Approved	FLJ10590, CARP-1, CARP1	uc001joo.3	Q8IX12	OTTHUMG00000018361	ENST00000265872.6:c.408G>T	10.37:g.70502216G>T	ENSP00000265872:p.Arg136Ser	Somatic	0	66	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	33	10.81	A0JLT7|A1L4P7|A8K9D4|B4DNP8|B4DRK8|Q32NE3|Q5EBM3|Q5VUP6|Q6PIZ0|Q6X935|Q9H8N4|Q9NVA7|Q9NVQ0|Q9NWM6	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_SAP_dom,superfamily_NA-bd_OB-fold,smart_SAP_dom,pfscan_SAP_dom	p.R136S	ENST00000265872.6	37	c.408	CCDS7282.1	10	.	.	.	.	.	.	.	.	.	.	G	15.56	2.870667	0.51695	.	.	ENSG00000060339	ENST00000265872;ENST00000535016;ENST00000538031;ENST00000543719;ENST00000539539;ENST00000543225	T;T;T;T;T	0.27256	1.68;1.92;1.92;1.92;1.93	5.82	3.0	0.34707	Nucleic acid-binding, OB-fold-like (1);	0.000000	0.85682	D	0.000000	T	0.21718	0.0523	L	0.29908	0.895	0.49687	D	0.999812	B;P;P	0.47106	0.435;0.89;0.808	B;B;P	0.46825	0.204;0.419;0.528	T	0.01472	-1.1346	10	0.51188	T	0.08	-11.4349	7.8116	0.29234	0.2028:0.1248:0.6724:0.0	.	121;136;110	Q8IX12-2;Q8IX12;F5H2E6	.;CCAR1_HUMAN;.	S	136;121;136;121;121;110	ENSP00000265872:R136S;ENSP00000441820:R121S;ENSP00000445254:R121S;ENSP00000439252:R121S;ENSP00000438610:R110S	ENSP00000265872:R136S	R	+	3	2	CCAR1	70172222	0.996000	0.38824	1.000000	0.80357	0.995000	0.86356	0.315000	0.19451	0.391000	0.25143	0.563000	0.77884	AGG	-	superfamily_NA-bd_OB-fold		0.438	CCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCAR1	protein_coding	OTTHUMT00000048356.2	G	NM_018237	-		70502216	+1	no_errors	ENST00000265872	ensembl	human	known	74_37	missense	SNP	0.995	T
PSMC6	5706	genome.wustl.edu	37	14	53194452	53194452	+	3'UTR	SNP	A	A	G			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr14:53194452A>G	ENST00000606149.1	+	0	1303				PSMC6_ENST00000557557.1_3'UTR|STYX_ENST00000442123.2_5'Flank|STYX_ENST00000354586.4_5'Flank|PSMC6_ENST00000445930.2_3'UTR	NM_002806.3	NP_002797.3	P62333	PRS10_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 6						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)|ATP catabolic process (GO:0006200)|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)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|protein binding, bridging (GO:0030674)			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	19	Breast(41;0.176)					GAATAAAAATATGAGTAACAT	0.254																																																	0								ENSG00000100519																																			PSMC6	SO:0001624	3_prime_UTR_variant	0			-	HGNC		CCDS9710.2	14q22.1	2010-04-21			ENSG00000100519	ENSG00000100519		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9553	protein-coding gene	gene with protein product		602708				8674546, 9473509	Standard	NM_002806		Approved	p42	uc010tqx.2	P62333	OTTHUMG00000152333	ENST00000606149.1:c.*117A>G	14.37:g.53194452A>G		Somatic	0	53	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	15	40.00	B2R975|P49719|Q6IBU3|Q92524	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000606149.1	37	NULL		14																																																																																			-	-		0.254	PSMC6-018	KNOWN	basic|appris_candidate	protein_coding	PSMC6	protein_coding	OTTHUMT00000470741.1	A	NM_002806	-		53194452	+1	no_errors	ENST00000557557	ensembl	human	known	74_37	rna	SNP	0.000	G
RP11-184E9.1	0	genome.wustl.edu	37	5	25190589	25190589	+	lincRNA	SNP	G	G	A			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr5:25190589G>A	ENST00000502100.2	+	0	0				RP11-549K20.1_ENST00000507600.1_lincRNA																							GTCCGTTGTCGTCAGGACTAG	0.622																																																	0								ENSG00000251273																																			RP11-549K20.1			0			-	Clone_based_vega_gene																													5.37:g.25190589G>A		Somatic	0	52	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000502100.2	37	NULL		5																																																																																			-	-		0.622	RP11-184E9.1-001	KNOWN	basic	lincRNA	ENSG00000251273	lincRNA	OTTHUMT00000366522.1	G		-		25190589	-1	no_errors	ENST00000507600	ensembl	human	known	74_37	rna	SNP	0.032	A
KIAA0040	9674	genome.wustl.edu	37	1	175129925	175129927	+	In_Frame_Del	DEL	CTT	CTT	-	rs150137790|rs374766108		TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	CTT	CTT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr1:175129925_175129927delCTT	ENST00000423313.1	-	4	759_761	c.223_225delAAG	c.(223-225)aagdel	p.K75del	KIAA0040_ENST00000444639.1_In_Frame_Del_p.K75del|KIAA0040_ENST00000545251.2_In_Frame_Del_p.K75del|KIAA0040_ENST00000567124.1_5'Flank	NM_001162893.1|NM_001162895.1|NM_014656.2	NP_001156365.1|NP_001156367.1|NP_055471.2	Q15053	K0040_HUMAN	KIAA0040	0																	cttcttcatccttcttcttcttc	0.507																																																	0								ENSG00000235750																																			KIAA0040	SO:0001651	inframe_deletion	0				HGNC	D25539		1q24-q25	2012-11-29			ENSG00000235750	ENSG00000235750			28950	protein-coding gene	gene with protein product							Standard	NM_014656		Approved		uc001gkn.3	Q15053	OTTHUMG00000034880	ENST00000423313.1:c.223_225delAAG	1.37:g.175129934_175129936delCTT	ENSP00000462172:p.Lys75del	Somatic	0	26	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	19	9.52	A8K9H6|Q2NKQ0	In_Frame_Del	DEL	NA	NA	NA	NA	NA	NA	NULL	p.K75in_frame_del	ENST00000423313.1	37	c.225_223		1																																																																																			-	NULL		0.507	KIAA0040-002	KNOWN	basic|appris_principal	protein_coding	KIAA0040	protein_coding	OTTHUMT00000084420.3	CTT	NM_014656			175129927	-1	no_errors	ENST00000423313	ensembl	human	known	74_37	in_frame_del	DEL	0.993:0.993:0.999	-
CHST10	9486	genome.wustl.edu	37	2	101023037	101023037	+	Splice_Site	SNP	C	C	G			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr2:101023037C>G	ENST00000264249.3	-	3	486		c.e3+1		CHST10_ENST00000542617.1_Splice_Site|CHST10_ENST00000409701.1_Splice_Site|CHST10_ENST00000485085.1_5'Flank	NM_004854.4	NP_004845.1	O43529	CHSTA_HUMAN	carbohydrate sulfotransferase 10						carbohydrate biosynthetic process (GO:0016051)|cell adhesion (GO:0007155)|learning (GO:0007612)|long-term memory (GO:0007616)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	HNK-1 sulfotransferase activity (GO:0016232)|sulfotransferase activity (GO:0008146)			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						AGCATACGTACCATCTGGGTC	0.458																																																	0								ENSG00000115526						324.0	304.0	311.0					2																	101023037		2203	4300	6503	CHST10	SO:0001630	splice_region_variant	0			-	HGNC	BC010441	CCDS2047.1	2q11.2	2008-02-05			ENSG00000115526	ENSG00000115526		"""Sulfotransferases, membrane-bound"""	19650	protein-coding gene	gene with protein product		606376				12080076	Standard	NM_004854		Approved	HNK-1ST	uc002tam.3	O43529	OTTHUMG00000130669	ENST00000264249.3:c.100+1G>C	2.37:g.101023037C>G		Somatic	0	50	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	3	86.36	Q53T18	Splice_Site	SNP	NA	NA	NA	NA	NA	NA	-	e3+1	ENST00000264249.3	37	c.244+1	CCDS2047.1	2	.	.	.	.	.	.	.	.	.	.	C	17.99	3.523526	0.64747	.	.	ENSG00000115526	ENST00000264249;ENST00000542617;ENST00000409701;ENST00000409046;ENST00000420858;ENST00000448989;ENST00000421474;ENST00000418201	.	.	.	4.94	4.94	0.65067	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5386	0.91019	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CHST10	100389469	1.000000	0.71417	0.906000	0.35671	0.660000	0.38997	6.596000	0.74113	2.449000	0.82847	0.561000	0.74099	.	-	-		0.458	CHST10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST10	protein_coding	OTTHUMT00000253162.1	C	NM_004854	-	Intron	101023037	-1	no_errors	ENST00000542617	ensembl	human	known	74_37	splice_site	SNP	1.000	G
ZNF292	23036	genome.wustl.edu	37	6	87969974	87969974	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr6:87969974delT	ENST00000369577.3	+	8	6670	c.6627delT	c.(6625-6627)gctfs	p.A2209fs	ZNF292_ENST00000339907.4_Frame_Shift_Del_p.A2204fs	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	2209						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		GTATGACTGCTTCAGTGGATG	0.378																																																	0								ENSG00000188994						169.0	168.0	168.0					6																	87969974		1873	4096	5969	ZNF292	SO:0001589	frameshift_variant	0				HGNC	AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.6627delT	6.37:g.87969974delT	ENSP00000358590:p.Ala2209fs	Somatic	0	60	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	18	10.00	Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Frame_Shift_Del	DEL	NA	NA	NA	NA	NA	NA	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S2210fs	ENST00000369577.3	37	c.6627	CCDS47457.1	6																																																																																			-	NULL		0.378	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF292	protein_coding	OTTHUMT00000376192.2	T	NM_015021			87969974	+1	no_errors	ENST00000369577	ensembl	human	known	74_37	frame_shift_del	DEL	0.779	-
SCARB1	949	genome.wustl.edu	37	12	125267313	125267313	+	Intron	SNP	C	C	T			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr12:125267313C>T	ENST00000415380.2	-	11	1777				SCARB1_ENST00000546215.1_Silent_p.K454K|SCARB1_ENST00000339570.5_Intron|SCARB1_ENST00000261693.6_Silent_p.K482K|SCARB1_ENST00000376788.1_Silent_p.K382K|SCARB1_ENST00000535005.1_5'UTR			Q8WTV0	SCRB1_HUMAN	scavenger receptor class B, member 1						adhesion of symbiont to host (GO:0044406)|androgen biosynthetic process (GO:0006702)|blood vessel endothelial cell migration (GO:0043534)|cell adhesion (GO:0007155)|cholesterol catabolic process (GO:0006707)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|detection of lipopolysaccharide (GO:0032497)|endothelial cell proliferation (GO:0001935)|high-density lipoprotein particle clearance (GO:0034384)|high-density lipoprotein particle remodeling (GO:0034375)|lipopolysaccharide transport (GO:0015920)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid transport (GO:0015914)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of triglyceride biosynthetic process (GO:0010867)|receptor-mediated endocytosis (GO:0006898)|recognition of apoptotic cell (GO:0043654)|regulation of phagocytosis (GO:0050764)|regulation of phosphatidylcholine catabolic process (GO:0010899)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|viral process (GO:0016032)|wound healing (GO:0042060)	caveola (GO:0005901)|cell surface (GO:0009986)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein binding (GO:0034185)|high-density lipoprotein particle binding (GO:0008035)|high-density lipoprotein particle receptor activity (GO:0070506)|lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	Phosphatidylserine(DB00144)	CCTCCTTATCCTTTGAGCCCT	0.418																																																	0								ENSG00000073060						99.0	95.0	96.0					12																	125267313		2203	4300	6503	SCARB1	SO:0001627	intron_variant	0			-	HGNC	Z22555	CCDS9259.1, CCDS45008.1	12q24.32	2008-08-05	2002-09-06	2002-09-06	ENSG00000073060	ENSG00000073060			1664	protein-coding gene	gene with protein product		601040	"""CD36 antigen (collagen type I receptor, thrombospondin receptor)-like 1"""	CD36L1		7689561	Standard	NM_001082959		Approved	SRB1, CLA-1, CLA1, SR-BI	uc001ugm.4	Q8WTV0	OTTHUMG00000168544	ENST00000415380.2:c.1651+3339G>A	12.37:g.125267313C>T		Somatic	0	89	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	66	42	61.11	F8W8N0|Q14016|Q52LZ5|Q6KFX4	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_CD36,prints_CD36,prints_CD36_antigen	p.K482	ENST00000415380.2	37	c.1446		12																																																																																			-	NULL		0.418	SCARB1-006	KNOWN	basic	protein_coding	SCARB1	protein_coding	OTTHUMT00000400165.1	C	NM_005505	-		125267313	-1	no_errors	ENST00000261693	ensembl	human	known	74_37	silent	SNP	0.972	T
ROBO3	64221	genome.wustl.edu	37	11	124747470	124747470	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr11:124747470C>T	ENST00000397801.1	+	20	3094	c.2902C>T	c.(2902-2904)Cac>Tac	p.H968Y	ROBO3_ENST00000525482.1_3'UTR|ROBO3_ENST00000543966.1_5'UTR|ROBO3_ENST00000538940.1_Missense_Mutation_p.H946Y	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	968					axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|neuron migration (GO:0001764)	axon (GO:0030424)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		TTCGTGGCCCCACCCATCTCG	0.632																																																	0								ENSG00000154134						21.0	26.0	24.0					11																	124747470		2010	4152	6162	ROBO3	SO:0001583	missense	0			-	HGNC	AK024697	CCDS44755.1	11q24	2013-02-11	2001-11-28		ENSG00000154134	ENSG00000154134		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13433	protein-coding gene	gene with protein product		608630	"""roundabout (axon guidance receptor, Drosophila) homolog 3"", ""horizontal gaze palsy with progressive scoliosis"""	HGPPS		15105459	Standard	NM_022370		Approved	RBIG1, FLJ21044, HGPS	uc001qbc.3	Q96MS0	OTTHUMG00000165934	ENST00000397801.1:c.2902C>T	11.37:g.124747470C>T	ENSP00000380903:p.His968Tyr	Somatic	0	69	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	41	42.25		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.H968Y	ENST00000397801.1	37	c.2902	CCDS44755.1	11	.	.	.	.	.	.	.	.	.	.	C	20.4	3.985393	0.74474	.	.	ENSG00000154134	ENST00000397801;ENST00000538940	D;D	0.91351	-2.83;-2.83	5.48	5.48	0.80851	.	0.176182	0.27072	N	0.021069	D	0.91358	0.7274	L	0.51422	1.61	0.80722	D	1	D;P	0.58268	0.982;0.93	P;P	0.55455	0.776;0.579	D	0.90746	0.4653	10	0.48119	T	0.1	.	11.8748	0.52541	0.1744:0.8256:0.0:0.0	.	17;968	B4DI90;Q96MS0	.;ROBO3_HUMAN	Y	968;946	ENSP00000380903:H968Y;ENSP00000441797:H946Y	ENSP00000380903:H968Y	H	+	1	0	ROBO3	124252680	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.887000	0.48586	2.566000	0.86566	0.655000	0.94253	CAC	-	NULL		0.632	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROBO3	protein_coding	OTTHUMT00000387091.1	C	XM_370663	-		124747470	+1	no_errors	ENST00000397801	ensembl	human	known	74_37	missense	SNP	0.998	T
ARHGEF1	9138	genome.wustl.edu	37	19	42408394	42408396	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	CTG	CTG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr19:42408394_42408396delCTG	ENST00000354532.3	+	22	2168_2170	c.2020_2022delCTG	c.(2020-2022)ctgdel	p.L678del	ARHGEF1_ENST00000599846.1_In_Frame_Del_p.L734del|ARHGEF1_ENST00000378152.4_In_Frame_Del_p.L660del|ARHGEF1_ENST00000347545.4_In_Frame_Del_p.L645del|ARHGEF1_ENST00000337665.4_In_Frame_Del_p.L693del	NM_004706.3	NP_004697.2	Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	678	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cell proliferation (GO:0008283)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of axonogenesis (GO:0050770)|Rho protein signal transduction (GO:0007266)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|poly(A) RNA binding (GO:0044822)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		GCTGGACGACCTGCTGCTGCTGC	0.7																																																	0								ENSG00000076928																																			ARHGEF1	SO:0001651	inframe_deletion	0				HGNC	U64105	CCDS12590.1, CCDS12591.1, CCDS12592.1	19q13.13	2014-06-19			ENSG00000076928	ENSG00000076928		"""Rho guanine nucleotide exchange factors"""	681	protein-coding gene	gene with protein product		601855				8810315, 9135076	Standard	NM_004706		Approved	P115-RHOGEF, SUB1.5, LBCL2	uc002osa.3	Q92888	OTTHUMG00000182679	ENST00000354532.3:c.2020_2022delCTG	19.37:g.42408403_42408405delCTG	ENSP00000346532:p.Leu678del	Somatic	0	22	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	23	11.54	O00513|Q8N4J4|Q96BF4|Q96F17|Q9BSB1	In_Frame_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_RGS-like_dom,pfam_DH-domain,superfamily_Regulat_G_prot_signal_superfam,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.L692in_frame_del	ENST00000354532.3	37	c.2065_2067	CCDS12591.1	19																																																																																			-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.700	ARHGEF1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	ARHGEF1	protein_coding	OTTHUMT00000463360.1	CTG	NM_199002			42408396	+1	no_errors	ENST00000337665	ensembl	human	known	74_37	in_frame_del	DEL	1.000:1.000:1.000	-
ZNF615	284370	genome.wustl.edu	37	19	52505095	52505095	+	Missense_Mutation	SNP	T	T	C			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr19:52505095T>C	ENST00000602063.1	-	5	558	c.209A>G	c.(208-210)gAa>gGa	p.E70G	ZNF615_ENST00000391795.3_Missense_Mutation_p.E75G|ZNF615_ENST00000376716.5_Missense_Mutation_p.E70G|ZNF615_ENST00000597747.1_Missense_Mutation_p.E70G|ZNF615_ENST00000594083.1_Missense_Mutation_p.E70G|ZNF615_ENST00000598071.1_Missense_Mutation_p.E70G|ZNF615_ENST00000595114.1_5'Flank			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	70	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		GATTTCATCTTCTGTTGTGCA	0.478																																																	0								ENSG00000197619						176.0	130.0	145.0					19																	52505095		2203	4300	6503	ZNF615	SO:0001583	missense	0			-	HGNC	AK096691	CCDS12846.1, CCDS59418.1	19q13.41	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	24740	protein-coding gene	gene with protein product						12477932	Standard	NM_001199324		Approved	FLJ33710	uc002pyf.2	Q8N8J6		ENST00000602063.1:c.209A>G	19.37:g.52505095T>C	ENSP00000473089:p.Glu70Gly	Somatic	0	65	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	42	27.59	B7ZKW9|Q2M2Y6|Q5CZB0|Q6ZMT7|Q6ZRB3	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	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.E70G	ENST00000602063.1	37	c.209	CCDS12846.1	19	.	.	.	.	.	.	.	.	.	.	T	9.520	1.107928	0.20714	.	.	ENSG00000197619	ENST00000376716;ENST00000354939;ENST00000391795;ENST00000391793	T;T	0.10382	2.91;2.88	2.55	1.5	0.22942	Krueppel-associated box (1);	.	.	.	.	T	0.12390	0.0301	L	0.54323	1.7	0.09310	N	1	B;B;B;B	0.31655	0.225;0.334;0.334;0.225	B;B;B;B	0.37144	0.122;0.242;0.242;0.122	T	0.27706	-1.0066	9	0.56958	D	0.05	.	5.6797	0.17769	0.0:0.0:0.2821:0.7179	.	75;66;70;70	B4DH87;Q8N8J6-3;Q8N8J6-2;Q8N8J6	.;.;.;ZN615_HUMAN	G	70;69;75;69	ENSP00000365906:E70G;ENSP00000375672:E75G	ENSP00000347019:E69G	E	-	2	0	ZNF615	57196907	0.001000	0.12720	0.001000	0.08648	0.111000	0.19643	0.410000	0.21098	0.390000	0.25115	0.529000	0.55759	GAA	-	pfscan_Krueppel-associated_box		0.478	ZNF615-009	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	ZNF615	protein_coding	OTTHUMT00000462391.1	T	NM_198480	-		52505095	-1	no_errors	ENST00000594083	ensembl	human	known	74_37	missense	SNP	0.000	C
CSN2	1447	genome.wustl.edu	37	4	70823108	70823108	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr4:70823108G>T	ENST00000353151.3	-	5	570	c.559C>A	c.(559-561)Cct>Act	p.P187T		NM_001891.2	NP_001882.1	P61201	CSN2_HUMAN	casein beta	0					cell proliferation (GO:0008283)|cullin deneddylation (GO:0010388)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)	signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|skin(2)	12						GCTCTCTGAGGGTAGGGCACC	0.572																																																	0								ENSG00000135222						70.0	69.0	69.0					4																	70823108		2203	4300	6503	CSN2	SO:0001583	missense	0			-	HGNC	X17070	CCDS3532.1	4q21.1	2008-02-05			ENSG00000135222	ENSG00000135222			2447	protein-coding gene	gene with protein product		115460		CASB		1577486	Standard	NM_001891		Approved		uc003hes.4	P05814	OTTHUMG00000129409	ENST00000353151.3:c.559C>A	4.37:g.70823108G>T	ENSP00000341030:p.Pro187Thr	Somatic	0	42	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	12	33.33	O88950|Q15647|Q6FGP4|Q9BY54|Q9R249|Q9UNI2|Q9UNQ5	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Casein,pirsf_Casein_beta	p.P187T	ENST00000353151.3	37	c.559	CCDS3532.1	4	.	.	.	.	.	.	.	.	.	.	G	13.26	2.184972	0.38609	.	.	ENSG00000135222	ENST00000353151	.	.	.	4.78	-1.38	0.09027	.	1.144020	0.06511	N	0.738113	T	0.36166	0.0957	L	0.57536	1.79	0.09310	N	1	B	0.29955	0.263	B	0.34093	0.175	T	0.42275	-0.9461	9	0.59425	D	0.04	.	1.0923	0.01665	0.1663:0.2671:0.2937:0.273	.	187	P05814	CASB_HUMAN	T	187	.	ENSP00000341030:P187T	P	-	1	0	CSN2	70857697	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.160000	0.10041	-0.315000	0.08703	-0.181000	0.13052	CCT	-	pfam_Casein,pirsf_Casein_beta		0.572	CSN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSN2	protein_coding	OTTHUMT00000251565.1	G		-		70823108	-1	no_errors	ENST00000353151	ensembl	human	known	74_37	missense	SNP	0.000	T
GPR82	27197	genome.wustl.edu	37	X	41586873	41586873	+	Silent	SNP	C	C	A			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chrX:41586873C>A	ENST00000302548.4	+	3	834	c.594C>A	c.(592-594)atC>atA	p.I198I	CASK_ENST00000442742.2_Intron|CASK_ENST00000378163.1_Intron|CASK_ENST00000318588.9_Intron|CASK_ENST00000378166.4_Intron|CASK_ENST00000378158.1_Intron|CASK_ENST00000421587.2_Intron|CASK_ENST00000378154.1_Intron|CASK_ENST00000361962.4_Intron	NM_080817.4	NP_543007.1	Q96P67	GPR82_HUMAN	G protein-coupled receptor 82	198						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	10						GAGCCATGATCTCTCAGATTG	0.393																																																	0								ENSG00000171657						101.0	87.0	92.0					X																	41586873		2203	4300	6503	GPR82	SO:0001819	synonymous_variant	0			-	HGNC	AF411111	CCDS14259.1	Xp11.4	2012-08-21			ENSG00000171657	ENSG00000171657		"""GPCR / Class A : Orphans"""	4533	protein-coding gene	gene with protein product		300748				11574155	Standard	NM_080817		Approved		uc004dft.3	Q96P67	OTTHUMG00000021373	ENST00000302548.4:c.594C>A	X.37:g.41586873C>A		Somatic	0	40	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	40	23.08	Q5VT13	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.I198	ENST00000302548.4	37	c.594	CCDS14259.1	X																																																																																			-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.393	GPR82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR82	protein_coding	OTTHUMT00000056261.1	C	NM_080817	-		41586873	+1	no_errors	ENST00000302548	ensembl	human	known	74_37	silent	SNP	0.059	A
SMPD3	55512	genome.wustl.edu	37	16	68398795	68398795	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr16:68398795G>A	ENST00000219334.5	-	5	2017	c.1414C>T	c.(1414-1416)Cgg>Tgg	p.R472W	SMPD3_ENST00000563226.1_Missense_Mutation_p.R472W|SMPD3_ENST00000566009.1_5'UTR|SMPD3_ENST00000568373.1_Missense_Mutation_p.R472W	NM_018667.3	NP_061137.1	Q9NY59	NSMA2_HUMAN	sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)	472					cell cycle (GO:0007049)|glycosphingolipid metabolic process (GO:0006687)|hematopoietic progenitor cell differentiation (GO:0002244)|peptide hormone secretion (GO:0030072)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)	Golgi cis cisterna (GO:0000137)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	TGCCCACACCGGATGGCGCTG	0.592																																																	0								ENSG00000103056						43.0	37.0	39.0					16																	68398795		2198	4300	6498	SMPD3	SO:0001583	missense	0			-	HGNC	AJ250460	CCDS10867.1	16q22.1	2008-02-05			ENSG00000103056	ENSG00000103056			14240	protein-coding gene	gene with protein product		605777				10823942	Standard	NM_018667		Approved	NSMASE2	uc002ewa.3	Q9NY59	OTTHUMG00000137559	ENST00000219334.5:c.1414C>T	16.37:g.68398795G>A	ENSP00000219334:p.Arg472Trp	Somatic	0	73	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	46	26.98	B7ZL82|Q2M1S8	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase	p.R472W	ENST00000219334.5	37	c.1414	CCDS10867.1	16	.	.	.	.	.	.	.	.	.	.	G	36	5.634416	0.96682	.	.	ENSG00000103056	ENST00000219334	T	0.61627	0.09	5.93	5.93	0.95920	Endonuclease/exonuclease/phosphatase (2);	0.000000	0.85682	D	0.000000	T	0.79058	0.4382	M	0.82823	2.61	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.997;1.0;1.0	T	0.81022	-0.1121	10	0.87932	D	0	-27.0556	17.8376	0.88704	0.0:0.0:1.0:0.0	.	472;472;472	B7ZL82;B7ZL84;Q9NY59	.;.;NSMA2_HUMAN	W	472	ENSP00000219334:R472W	ENSP00000219334:R472W	R	-	1	2	SMPD3	66956296	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.471000	0.97696	2.815000	0.96918	0.561000	0.74099	CGG	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase		0.592	SMPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMPD3	protein_coding	OTTHUMT00000268895.3	G	NM_018667	-		68398795	-1	no_errors	ENST00000219334	ensembl	human	known	74_37	missense	SNP	1.000	A
CYFIP1	23191	genome.wustl.edu	37	15	22929738	22929738	+	Missense_Mutation	SNP	G	G	T	rs541227757		TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr15:22929738G>T	ENST00000313077.7	+	6	537	c.412G>T	c.(412-414)Ggg>Tgg	p.G138W	CYFIP1_ENST00000560848.1_Missense_Mutation_p.G138W	NM_014608.2	NP_055423.1			cytoplasmic FMR1 interacting protein 1											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		GCGTTTCTGCGGGGAAGTGAG	0.557																																																	0								ENSG00000068793						86.0	81.0	83.0					15																	22929738		2203	4300	6503	CYFIP1	SO:0001583	missense	0			-	HGNC	D38549	CCDS73695.1, CCDS73696.1	15q11	2008-07-18			ENSG00000068793	ENSG00000273749			13759	protein-coding gene	gene with protein product	"""selective hybridizing clone"", ""cytoplasmic FMRP interacting protein 1"""	606322				11438699	Standard	XM_005272543		Approved	KIAA0068, P140SRA-1, SHYC	uc001yus.3	Q7L576	OTTHUMG00000129100	ENST00000313077.7:c.412G>T	15.37:g.22929738G>T	ENSP00000324549:p.Gly138Trp	Somatic	0	26	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	16	20.00		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int	p.G138W	ENST00000313077.7	37	c.412	CCDS10009.1	15	.	.	.	.	.	.	.	.	.	.	G	25.7	4.661680	0.88154	.	.	ENSG00000068793	ENST00000313077;ENST00000412127	T	0.43294	0.95	4.92	4.92	0.64577	.	0.078178	0.53938	D	0.000046	T	0.51041	0.1651	L	0.40543	1.245	0.80722	D	1	D;P	0.61697	0.99;0.946	P;P	0.55303	0.773;0.592	T	0.54925	-0.8220	10	0.72032	D	0.01	-33.0363	18.4773	0.90798	0.0:0.0:1.0:0.0	.	166;138	E7EQ04;Q7L576	.;CYFP1_HUMAN	W	138;166	ENSP00000324549:G138W	ENSP00000324549:G138W	G	+	1	0	CYFIP1	20481179	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.770000	0.85390	2.439000	0.82584	0.561000	0.74099	GGG	-	pirsf_Cytoplasmic_FMR1-int_sub		0.557	CYFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYFIP1	protein_coding	OTTHUMT00000251136.2	G	NM_014608	-		22929738	+1	no_errors	ENST00000313077	ensembl	human	known	74_37	missense	SNP	1.000	T
IMMP2L	83943	genome.wustl.edu	37	7	110568408	110568413	+	Intron	DEL	CACACA	CACACA	-	rs13230194|rs71692948|rs202224708|rs58639346	byFrequency	TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	CACACA	CACACA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr7:110568408_110568413delCACACA	ENST00000405709.2	-	4	748				AC005161.1_ENST00000408352.1_RNA|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000489381.1_Intron	NM_032549.3	NP_115938.1	Q96T52	IMP2L_HUMAN	IMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae)						ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|protein processing involved in protein targeting to mitochondrion (GO:0006627)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|mitochondrial inner membrane peptidase complex (GO:0042720)	peptidase activity (GO:0008233)|serine-type peptidase activity (GO:0008236)			endometrium(3)|large_intestine(6)|lung(5)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.053)|Epithelial(3;2.27e-07)|all cancers(3;1.36e-05)|STAD - Stomach adenocarcinoma(3;0.00148)|KIRC - Kidney renal clear cell carcinoma(11;0.0339)|Lung(3;0.0375)|Kidney(11;0.0415)|LUSC - Lung squamous cell carcinoma(290;0.173)		TATGTACCTGcacacacacacacaca	0.325														2795	0.558107	0.4917	0.5159	5008	,	,		10746	0.6706		0.4742	False		,,,				2504	0.6483																0								ENSG00000221279																																			AC005161.1	SO:0001627	intron_variant	0				Clone_based_ensembl_gene	AF359563	CCDS5753.1	7q31	2014-01-06	2005-08-17		ENSG00000184903	ENSG00000184903			14598	protein-coding gene	gene with protein product		605977	"""IMP2 inner mitochondrial membrane protease-like (S. cerevisiae)"", ""IMMP2L intronic transcript 1 (non-protein coding)"""	IMMP2L-IT1		11254443	Standard	NM_032549		Approved	IMP2	uc010ljr.2	Q96T52	OTTHUMG00000155023	ENST00000405709.2:c.305+35142TGTGTG>-	7.37:g.110568414_110568419delCACACA		Somatic	NA	NA	NA		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	Q75MF1|Q75MN9|Q75MP0|Q75MS5|Q75MS8|Q96HJ2	RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000405709.2	37	NULL	CCDS5753.1	7																																																																																			-	-		0.325	IMMP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000221279	protein_coding	OTTHUMT00000338109.4	CACACA	NM_032549			110568413	+1	no_errors	ENST00000408352	ensembl	human	novel	74_37	rna	DEL	0.000:0.003:0.009:0.052:0.060:0.063	-
PTCHD2	57540	genome.wustl.edu	37	1	11586796	11586796	+	Missense_Mutation	SNP	G	G	A	rs544574486		TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr1:11586796G>A	ENST00000294484.6	+	13	2840	c.2702G>A	c.(2701-2703)cGc>cAc	p.R901H	PTCHD2_ENST00000389575.3_Missense_Mutation_p.R901H	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	901					cholesterol homeostasis (GO:0042632)|regulation of lipid transport (GO:0032368)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hedgehog receptor activity (GO:0008158)			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		AGCCCCTCCCGCAAGTGGATG	0.577													G|||	1	0.000199681	0.0	0.0	5008	,	,		17993	0.001		0.0	False		,,,				2504	0.0																0								ENSG00000204624						75.0	83.0	80.0					1																	11586796		2014	4176	6190	PTCHD2	SO:0001583	missense	0			-	HGNC	AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624			29251	protein-coding gene	gene with protein product		611251				15738394	Standard	NM_020780		Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.2702G>A	1.37:g.11586796G>A	ENSP00000294484:p.Arg901His	Somatic	0	63	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	32	38.46	Q5VTU9|Q9UJD6	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Patched,pfam_MMPL_dom,pfscan_SSD	p.R901H	ENST00000294484.6	37	c.2702	CCDS41247.1	1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.232186	0.79688	.	.	ENSG00000204624	ENST00000294484;ENST00000389575	D;D	0.90069	-2.61;-2.61	5.58	5.58	0.84498	.	0.211286	0.40302	N	0.001137	D	0.83454	0.5258	L	0.27053	0.805	0.39304	D	0.964969	D	0.61697	0.99	P	0.45099	0.469	D	0.85347	0.1099	10	0.51188	T	0.08	-19.7888	11.9484	0.52940	0.0788:0.0:0.9212:0.0	.	901	Q9P2K9	PTHD2_HUMAN	H	901	ENSP00000294484:R901H;ENSP00000374226:R901H	ENSP00000294484:R901H	R	+	2	0	PTCHD2	11509383	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.976000	0.49289	2.622000	0.88805	0.462000	0.41574	CGC	-	NULL		0.577	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PTCHD2	protein_coding	OTTHUMT00000005770.2	G	XM_052561	-		11586796	+1	no_errors	ENST00000294484	ensembl	human	known	74_37	missense	SNP	1.000	A
ADSSL1	122622	genome.wustl.edu	37	14	105207463	105207463	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr14:105207463G>T	ENST00000330877.2	+	8	761	c.676G>T	c.(676-678)Gag>Tag	p.E226*	ADSSL1_ENST00000332972.5_Nonsense_Mutation_p.E269*	NM_152328.3	NP_689541.1			adenylosuccinate synthase like 1											central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1)	11		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)		GGGCTTTGCTGAGCGGATCAG	0.612																																																	0								ENSG00000185100						82.0	78.0	79.0					14																	105207463		2203	4300	6503	ADSSL1	SO:0001587	stop_gained	0			-	HGNC	AK095921	CCDS9990.1, CCDS9991.1	14q32.33	2010-08-05			ENSG00000185100	ENSG00000185100			20093	protein-coding gene	gene with protein product		612498					Standard	NM_199165		Approved	FLJ38602	uc001ype.3	Q8N142		ENST00000330877.2:c.676G>T	14.37:g.105207463G>T	ENSP00000331260:p.Glu226*	Somatic	0	33	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	12	20.00		Nonsense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Adenylosuccinate_synthetase,superfamily_P-loop_NTPase,smart_Adenylosuccinate_synthetase,tigrfam_Adenylosuccinate_synthetase	p.E269*	ENST00000330877.2	37	c.805	CCDS9990.1	14	.	.	.	.	.	.	.	.	.	.	G	38	6.939912	0.97948	.	.	ENSG00000185100	ENST00000330877;ENST00000332972	.	.	.	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-3.8547	18.57	0.91132	0.0:0.0:1.0:0.0	.	.	.	.	X	226;269	.	ENSP00000331260:E226X	E	+	1	0	ADSSL1	104278508	1.000000	0.71417	0.348000	0.25681	0.621000	0.37620	9.711000	0.98735	2.394000	0.81467	0.655000	0.94253	GAG	-	pfam_Adenylosuccinate_synthetase,superfamily_P-loop_NTPase,smart_Adenylosuccinate_synthetase,tigrfam_Adenylosuccinate_synthetase		0.612	ADSSL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADSSL1	protein_coding	OTTHUMT00000410529.1	G		-		105207463	+1	no_errors	ENST00000332972	ensembl	human	known	74_37	nonsense	SNP	1.000	T
VWF	7450	genome.wustl.edu	37	12	6125336	6125336	+	Missense_Mutation	SNP	C	C	A			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr12:6125336C>A	ENST00000261405.5	-	31	5628	c.5374G>T	c.(5374-5376)Gcc>Tcc	p.A1792S		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	1792	VWFA 3; main binding site for collagens type I and III. {ECO:0000255|PROSITE- ProRule:PRU00219}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GCCTTTGAGGCTCCCGGCCTG	0.552																																																	0								ENSG00000110799						84.0	73.0	77.0					12																	6125336		2203	4300	6503	VWF	SO:0001583	missense	0			-	HGNC		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.5374G>T	12.37:g.6125336C>A	ENSP00000261405:p.Ala1792Ser	Somatic	0	29	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	16	23.81	Q8TCE8|Q99806	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pirsf_VWF,pfam_VWF_type-D,pfam_VWF_A,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_VWF_A,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C	p.A1792S	ENST00000261405.5	37	c.5374	CCDS8539.1	12	.	.	.	.	.	.	.	.	.	.	.	11.96	1.795877	0.31777	.	.	ENSG00000110799	ENST00000261405	T	0.79653	-1.29	4.58	3.68	0.42216	von Willebrand factor, type A (3);	0.504572	0.16665	N	0.204610	T	0.76521	0.3999	L	0.54323	1.7	0.28799	N	0.89891	B	0.22746	0.074	B	0.27887	0.084	T	0.70525	-0.4848	10	0.48119	T	0.1	.	10.8695	0.46875	0.3419:0.6581:0.0:0.0	.	1792	P04275	VWF_HUMAN	S	1792	ENSP00000261405:A1792S	ENSP00000261405:A1792S	A	-	1	0	VWF	5995597	0.984000	0.35163	0.236000	0.24074	0.044000	0.14063	2.912000	0.48782	1.122000	0.41944	0.555000	0.69702	GCC	-	pirsf_VWF,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.552	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	VWF	protein_coding	OTTHUMT00000399020.1	C	NM_000552	-		6125336	-1	no_errors	ENST00000261405	ensembl	human	known	74_37	missense	SNP	0.376	A
OR4N2	390429	genome.wustl.edu	37	14	20296162	20296162	+	Silent	SNP	C	C	T			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr14:20296162C>T	ENST00000315947.1	+	1	555	c.555C>T	c.(553-555)atC>atT	p.I185I	OR4N2_ENST00000568211.1_3'UTR	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	185						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CACAGGTCATCAAGCTGGCCT	0.532																																																	0								ENSG00000176294						143.0	146.0	145.0					14																	20296162		2203	4300	6503	OR4N2	SO:0001819	synonymous_variant	0			-	HGNC		CCDS32022.1	14q11.2	2013-09-23				ENSG00000176294		"""GPCR / Class A : Olfactory receptors"""	14742	protein-coding gene	gene with protein product							Standard	NM_001004723		Approved		uc010tkv.2	Q8NGD1		ENST00000315947.1:c.555C>T	14.37:g.20296162C>T		Somatic	0	151	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	104	8.77	Q6IEY9|Q6IFA2	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I185	ENST00000315947.1	37	c.555	CCDS32022.1	14																																																																																			-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.532	OR4N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4N2	protein_coding	OTTHUMT00000409821.2	C		-		20296162	+1	no_errors	ENST00000315947	ensembl	human	known	74_37	silent	SNP	0.991	T
SYCP2L	221711	genome.wustl.edu	37	6	10935392	10935392	+	Silent	SNP	G	G	A			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr6:10935392G>A	ENST00000283141.6	+	21	2081	c.1785G>A	c.(1783-1785)ttG>ttA	p.L595L		NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	595						nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			TTGCTTTTTTGACTGCTGAAG	0.348																																																	0								ENSG00000153157						76.0	71.0	72.0					6																	10935392		1794	4074	5868	SYCP2L	SO:0001819	synonymous_variant	0			-	HGNC	AK128130	CCDS43423.1	6p24.2	2008-11-06	2007-07-02	2007-07-02	ENSG00000153157	ENSG00000153157			21537	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 177"""	C6orf177			Standard	NM_001040274		Approved	dJ62D2.1, NO145	uc003mzo.3	Q5T4T6	OTTHUMG00000014250	ENST00000283141.6:c.1785G>A	6.37:g.10935392G>A		Somatic	0	106	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	33	46.77	A6NDS5|Q08GK5|Q6ZRM2|Q96EJ2	Silent	SNP	NA	NA	NA	NA	NA	NA	NULL	p.L595	ENST00000283141.6	37	c.1785	CCDS43423.1	6																																																																																			-	NULL		0.348	SYCP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYCP2L	protein_coding	OTTHUMT00000039845.3	G	NM_194299	-		10935392	+1	no_errors	ENST00000283141	ensembl	human	known	74_37	silent	SNP	0.876	A
NME9	347736	genome.wustl.edu	37	3	138023764	138023764	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr3:138023764C>T	ENST00000333911.3	-	9	769	c.742G>A	c.(742-744)Gtc>Atc	p.V248I	NME9_ENST00000341790.5_Missense_Mutation_p.V185I|NME9_ENST00000317876.4_Missense_Mutation_p.V187I|NME9_ENST00000484930.1_Missense_Mutation_p.V185I|NME9_ENST00000383180.2_Missense_Mutation_p.V187I|NME9_ENST00000536478.1_Missense_Mutation_p.V187I			Q86XW9	TXND6_HUMAN	NME/NM23 family member 9	248	NDK.				cell redox homeostasis (GO:0045454)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|UTP biosynthetic process (GO:0006228)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)	p.V187I(1)									GGGCCCATGACGGTTCGCCAG	0.567																																																	1	Substitution - Missense(1)	breast(1)						ENSG00000181322						154.0	136.0	142.0					3																	138023764		2203	4300	6503	NME9	SO:0001583	missense	0			-	HGNC	AF196568	CCDS3099.1	3q22.3	2012-05-18	2012-05-18	2011-08-24	ENSG00000181322	ENSG00000181322			21343	protein-coding gene	gene with protein product			"""thioredoxin domain containing 6"", ""NME gene family member 9"", ""NME family member 9"""	TXNDC6		12569107, 19852809	Standard	NM_178130		Approved	TXL-2, NM23-H9	uc003ese.1	Q86XW9	OTTHUMG00000159823	ENST00000333911.3:c.742G>A	3.37:g.138023764C>T	ENSP00000335444:p.Val248Ile	Somatic	0	26	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	0	100.00	Q7Z4A8|Q8N1V7	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Nucleoside_diP_kinase,pfam_Thioredoxin_domain,superfamily_Nucleoside_diP_kinase,superfamily_Thioredoxin-like_fold,smart_Nucleoside_diP_kinase,prints_Nucleoside_diP_kinase	p.V248I	ENST00000333911.3	37	c.742		3	.	.	.	.	.	.	.	.	.	.	C	0.187	-1.057225	0.01965	.	.	ENSG00000181322	ENST00000383180;ENST00000317876;ENST00000484930;ENST00000341790;ENST00000536478;ENST00000333911	T;T;T;T;T;T	0.52057	0.68;0.68;0.68;0.68;0.68;0.68	5.17	-5.46	0.02608	.	0.663621	0.15634	N	0.252247	T	0.17195	0.0413	.	.	.	0.09310	N	1	B;B;B	0.24576	0.0;0.106;0.001	B;B;B	0.17098	0.001;0.017;0.002	T	0.22800	-1.0206	9	0.13853	T	0.58	-1.9792	1.265	0.02009	0.4589:0.1277:0.1383:0.2751	.	185;248;187	Q86XW9-3;Q86XW9;Q86XW9-2	.;TXND6_HUMAN;.	I	187;187;185;185;187;248	ENSP00000372667:V187I;ENSP00000321929:V187I;ENSP00000419882:V185I;ENSP00000341084:V185I;ENSP00000440143:V187I;ENSP00000335444:V248I	ENSP00000321929:V187I	V	-	1	0	TXNDC6	139506454	0.182000	0.23173	0.002000	0.10522	0.000000	0.00434	0.500000	0.22562	-0.789000	0.04498	-4.357000	0.00007	GTC	-	pfam_Nucleoside_diP_kinase,superfamily_Nucleoside_diP_kinase,smart_Nucleoside_diP_kinase		0.567	NME9-003	KNOWN	basic|appris_principal	protein_coding	NME9	protein_coding	OTTHUMT00000357583.1	C	NM_178130	-		138023764	-1	no_errors	ENST00000333911	ensembl	human	known	74_37	missense	SNP	0.033	T
MUC16	94025	genome.wustl.edu	37	19	9033260	9033260	+	Silent	SNP	G	G	A			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr19:9033260G>A	ENST00000397910.4	-	10	36569	c.36366C>T	c.(36364-36366)ctC>ctT	p.L12122L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12124	SEA 1. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGCCTGAATAGAGGTATTCCA	0.527																																																	0								ENSG00000181143						66.0	65.0	66.0					19																	9033260		1980	4154	6134	MUC16	SO:0001819	synonymous_variant	0			-	HGNC	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.36366C>T	19.37:g.9033260G>A		Somatic	0	27	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	17	19.05	Q6ZQW5|Q96RK2	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.L12122	ENST00000397910.4	37	c.36366	CCDS54212.1	19																																																																																			-	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom		0.527	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	protein_coding	OTTHUMT00000402806.1	G	NM_024690	-		9033260	-1	no_errors	ENST00000397910	ensembl	human	known	74_37	silent	SNP	0.002	A
FAT2	2196	genome.wustl.edu	37	5	150932823	150932823	+	Silent	SNP	C	C	G			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr5:150932823C>G	ENST00000261800.5	-	5	4083	c.4071G>C	c.(4069-4071)acG>acC	p.T1357T		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1357	Cadherin 12. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCTCCATGACCGTAAAGCTGT	0.582																																																	0								ENSG00000086570						111.0	96.0	101.0					5																	150932823		2203	4300	6503	FAT2	SO:0001819	synonymous_variant	0			-	HGNC	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.4071G>C	5.37:g.150932823C>G		Somatic	0	83	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	32	19.51	O75091|Q9NSR7	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.T1357	ENST00000261800.5	37	c.4071	CCDS4317.1	5																																																																																			-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin		0.582	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT2	protein_coding	OTTHUMT00000252434.1	C	NM_001447	-		150932823	-1	no_errors	ENST00000261800	ensembl	human	known	74_37	silent	SNP	0.167	G
LOC150776	150776	genome.wustl.edu	37	2	132258153	132258154	+	RNA	INS	-	-	ACCTGCTACCTACCTGCTACCTGCTACCTG	rs367841035|rs112252782	byFrequency	TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr2:132258153_132258154insACCTGCTACCTACCTGCTACCTGCTACCTG	ENST00000438378.2	+	0	717_718					NR_026922.1																						TCCTACCTGCCTGTAAGTAAAC	0.49														452	0.0902556	0.1861	0.0749	5008	,	,		19618	0.003		0.0994	False		,,,				2504	0.0521																0								ENSG00000152117																																			AC093838.4			0				Clone_based_vega_gene																													2.37:g.132258153_132258154insACCTGCTACCTACCTGCTACCTGCTACCTG		Somatic	NA	NA	NA		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA		RNA	INS	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000438378.2	37	NULL		2																																																																																			-	-		0.490	AC093838.4-001	KNOWN	basic	processed_transcript	LOC150776	pseudogene	OTTHUMT00000331819.7	-				132258154	+1	no_errors	ENST00000438378	ensembl	human	known	74_37	rna	INS	1.000:0.997	ACCTGCTACCTACCTGCTACCTGCTACCTG
SLC44A1	23446	genome.wustl.edu	37	9	108120650	108120650	+	Silent	SNP	A	A	T			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr9:108120650A>T	ENST00000374720.3	+	7	943	c.696A>T	c.(694-696)atA>atT	p.I232I	SLC44A1_ENST00000343170.7_Silent_p.I24I|SLC44A1_ENST00000374723.1_Silent_p.I232I|SLC44A1_ENST00000374724.1_Silent_p.I232I	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN	solute carrier family 44 (choline transporter), member 1	232					choline transport (GO:0015871)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	TGATGGTGATAATCAGGTATA	0.333																																																	0								ENSG00000070214						222.0	208.0	212.0					9																	108120650		2203	4300	6503	SLC44A1	SO:0001819	synonymous_variant	0			-	HGNC	AJ420812	CCDS6763.1, CCDS75868.1	9q31.2	2014-01-28	2013-07-17	2005-09-06	ENSG00000070214	ENSG00000070214		"""CD molecules"", ""Solute carriers"""	18798	protein-coding gene	gene with protein product		606105	"""CDW92 antigen"""	CDW92		11698453, 10677542	Standard	NM_080546		Approved	CDw92, CTL1, CHTL1, CD92	uc004bcn.3	Q8WWI5	OTTHUMG00000020421	ENST00000374720.3:c.696A>T	9.37:g.108120650A>T		Somatic	0	82	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	76	21.43	A6NLZ9|Q5VUB3|Q8WVB0|Q96KU3|Q9NY69	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Choline_transptr-like	p.I232	ENST00000374720.3	37	c.696	CCDS6763.1	9																																																																																			-	NULL		0.333	SLC44A1-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	SLC44A1	protein_coding	OTTHUMT00000053500.1	A	NM_080546	-		108120650	+1	no_errors	ENST00000374720	ensembl	human	known	74_37	silent	SNP	1.000	T
ASB10	136371	genome.wustl.edu	37	7	150873260	150873260	+	Missense_Mutation	SNP	A	A	G	rs74456406		TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr7:150873260A>G	ENST00000420175.2	-	5	1367	c.1343T>C	c.(1342-1344)cTc>cCc	p.L448P	ASB10_ENST00000377867.3_Missense_Mutation_p.L433P|GBX1_ENST00000475831.1_5'Flank|ASB10_ENST00000422024.1_Missense_Mutation_p.L493P|ASB10_ENST00000434669.1_Missense_Mutation_p.L455P|ASB10_ENST00000275838.1_Missense_Mutation_p.L410P			Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box containing 10	448	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGGCAGGGGGAGGCGGGGCAG	0.677																																																	0								ENSG00000146926						21.0	24.0	23.0					7																	150873260		2185	4269	6454	ASB10	SO:0001583	missense	0			-	HGNC	AK055536	CCDS5921.2, CCDS47749.1, CCDS47750.1, CCDS47749.2, CCDS47750.2	7q35	2014-02-04	2011-01-25		ENSG00000146926	ENSG00000146926		"""Ankyrin repeat domain containing"""	17185	protein-coding gene	gene with protein product		615054	"""ankyrin repeat and SOCS box-containing 10"", ""glaucoma 1, open angle, F (adult-onset)"""	GLC1F		22156576	Standard	NM_080871		Approved		uc003wjm.1	Q8WXI3	OTTHUMG00000157013	ENST00000420175.2:c.1343T>C	7.37:g.150873260A>G	ENSP00000391137:p.Leu448Pro	Somatic	0	39	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51	A0AVH0|Q6ZUL6	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt	p.L493P	ENST00000420175.2	37	c.1478	CCDS47750.2	7	.	.	.	.	.	.	.	.	.	.	A	17.22	3.335017	0.60853	.	.	ENSG00000146926	ENST00000275838;ENST00000377867;ENST00000422024;ENST00000434669;ENST00000420175	D;D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64;-1.64	4.73	4.73	0.59995	SOCS protein, C-terminal (3);	0.000000	0.64402	D	0.000003	D	0.92120	0.7502	M	0.89840	3.065	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.93582	0.6913	10	0.87932	D	0	-6.128	13.4192	0.60987	1.0:0.0:0.0:0.0	.	433;448;455	Q8WXI3-3;Q8WXI3;D5MNW9	.;ASB10_HUMAN;.	P	410;433;493;455;448	ENSP00000275838:L410P;ENSP00000367098:L433P;ENSP00000401369:L493P;ENSP00000398247:L455P;ENSP00000391137:L448P	ENSP00000275838:L410P	L	-	2	0	ASB10	150504193	1.000000	0.71417	0.971000	0.41717	0.161000	0.22273	9.150000	0.94667	1.767000	0.52121	0.533000	0.62120	CTC	-	pfam_SOCS_C,smart_SOCS_C,pfscan_SOCS_C		0.677	ASB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASB10	protein_coding	OTTHUMT00000347096.3	A	NM_080871	rs74456406		150873260	-1	no_errors	ENST00000422024	ensembl	human	known	74_37	missense	SNP	0.998	G
SLCO6A1	133482	genome.wustl.edu	37	5	101834275	101834275	+	Missense_Mutation	SNP	C	C	A			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr5:101834275C>A	ENST00000506729.1	-	1	445	c.274G>T	c.(274-276)Ggc>Tgc	p.G92C	SLCO6A1_ENST00000379810.1_Missense_Mutation_p.G92C|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.G92C|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.G92C|RP11-58B2.1_ENST00000502494.1_RNA|SLCO6A1_ENST00000514551.1_5'UTR|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.G92C			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	92	Cys-rich.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		ACTAAGCAGCCCAAACCACAG	0.493																																																	0								ENSG00000205359						105.0	108.0	107.0					5																	101834275		2203	4300	6503	SLCO6A1	SO:0001583	missense	0			-	HGNC	AF505657	CCDS34206.1, CCDS75282.1	5q21.2	2013-05-22			ENSG00000205359	ENSG00000205359		"""Solute carriers"""	23613	protein-coding gene	gene with protein product	"""cancer/testis antigen 48"""	613365					Standard	XM_005271874		Approved	OATP6A1, OATPY, MGC26949, CT48	uc003knp.3	Q86UG4	OTTHUMG00000162759	ENST00000506729.1:c.274G>T	5.37:g.101834275C>A	ENSP00000421339:p.Gly92Cys	Somatic	0	68	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	29	12.12	A6NHC1|Q6ZMY5|Q86UV2|Q8IYU5	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter	p.G92C	ENST00000506729.1	37	c.274	CCDS34206.1	5	.	.	.	.	.	.	.	.	.	.	C	8.756	0.922396	0.17982	.	.	ENSG00000205359	ENST00000506729;ENST00000379807;ENST00000389019;ENST00000513675;ENST00000379810	T;T;T;T;T	0.52057	0.77;0.77;0.79;0.68;0.68	3.52	-0.517	0.11947	.	1.074830	0.07321	N	0.877573	T	0.37652	0.1011	L	0.29908	0.895	0.09310	N	1	D;P;P	0.56287	0.975;0.733;0.82	P;B;B	0.50934	0.654;0.145;0.325	T	0.18713	-1.0328	10	0.32370	T	0.25	.	0.7819	0.01042	0.1913:0.3972:0.1866:0.2248	.	92;92;92	Q86UG4-2;C9J020;Q86UG4	.;.;SO6A1_HUMAN	C	92	ENSP00000421339:G92C;ENSP00000369135:G92C;ENSP00000373671:G92C;ENSP00000421990:G92C;ENSP00000369138:G92C	ENSP00000369135:G92C	G	-	1	0	SLCO6A1	101862174	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.135000	0.10420	-0.123000	0.11745	-0.350000	0.07774	GGC	-	NULL		0.493	SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO6A1	protein_coding	OTTHUMT00000370335.1	C	NM_173488	-		101834275	-1	no_errors	ENST00000379807	ensembl	human	known	74_37	missense	SNP	0.000	A
TRPM1	4308	genome.wustl.edu	37	15	31359349	31359349	+	Missense_Mutation	SNP	A	A	G			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr15:31359349A>G	ENST00000256552.6	-	6	682	c.535T>C	c.(535-537)Tcc>Ccc	p.S179P	MIR211_ENST00000384969.1_RNA|TRPM1_ENST00000397795.2_Missense_Mutation_p.S157P|TRPM1_ENST00000542188.1_Missense_Mutation_p.S196P	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		CTGGACTTGGAGGAGTGGTCT	0.488																																																	0								ENSG00000134160						117.0	116.0	116.0					15																	31359349		1906	4116	6022	TRPM1	SO:0001583	missense	0			-	HGNC	AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	7146	protein-coding gene	gene with protein product		603576	"""melastatin 1"""	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.535T>C	15.37:g.31359349A>G	ENSP00000256552:p.Ser179Pro	Somatic	0	76	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	31	42.59		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Ion_trans_dom	p.S196P	ENST00000256552.6	37	c.586	CCDS58346.1	15	.	.	.	.	.	.	.	.	.	.	A	29.6	5.020318	0.93462	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	T;T;T	0.05717	3.4;3.4;3.4	6.11	6.11	0.99139	.	0.000000	0.85682	D	0.000000	T	0.32285	0.0824	M	0.89095	3.005	0.80722	D	1	D;D	0.69078	0.991;0.997	D;D	0.75484	0.986;0.92	T	0.16012	-1.0417	10	0.87932	D	0	-29.0164	16.7021	0.85357	1.0:0.0:0.0:0.0	.	157;157	Q7Z4N2-3;Q7Z4N2	.;TRPM1_HUMAN	P	157;196;179;157	ENSP00000380897:S157P;ENSP00000437849:S196P;ENSP00000256552:S179P	ENSP00000256552:S179P	S	-	1	0	TRPM1	29146641	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.332000	0.96446	2.343000	0.79666	0.533000	0.62120	TCC	-	NULL		0.488	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	TRPM1	protein_coding	OTTHUMT00000417166.2	A	NM_002420	-		31359349	-1	no_errors	ENST00000542188	ensembl	human	known	74_37	missense	SNP	1.000	G
RP11-445N18.7	0	genome.wustl.edu	37	10	45659534	45659535	+	RNA	DEL	TG	TG	-			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	TG	TG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr10:45659534_45659535delTG	ENST00000427229.2	+	0	2175				MIR3156-1_ENST00000579389.1_RNA|RP11-445N18.5_ENST00000422807.1_lincRNA																							TCTTTCTCTCTGTGTAAATATA	0.386																																																	0								ENSG00000263476																																			MIR3156-1			0				HGNC																													10.37:g.45659536_45659537delTG		Somatic	0	121	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	33	10.81		RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000427229.2	37	NULL		10																																																																																			-	-		0.386	RP11-445N18.7-001	KNOWN	basic|readthrough_transcript	processed_transcript	MIR3156-1	processed_transcript	OTTHUMT00000470688.1	TG				45659535	+1	no_errors	ENST00000579389	ensembl	human	known	74_37	rna	DEL	0.015:0.011	-
CHD8	57680	genome.wustl.edu	37	14	21869125	21869125	+	Missense_Mutation	SNP	C	C	A			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr14:21869125C>A	ENST00000557364.1	-	22	4542	c.4279G>T	c.(4279-4281)Gat>Tat	p.D1427Y	CHD8_ENST00000399982.2_Missense_Mutation_p.D1427Y|CHD8_ENST00000555962.1_Intron|CHD8_ENST00000430710.3_Missense_Mutation_p.D1148Y			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1427					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		GGCCGCTCATCATCCTCACTT	0.498																																																	0								ENSG00000100888						132.0	128.0	129.0					14																	21869125		1983	4159	6142	CHD8	SO:0001583	missense	0			-	HGNC	AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"""helicase with SNF2 domain 1"""	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.4279G>T	14.37:g.21869125C>A	ENSP00000451601:p.Asp1427Tyr	Somatic	0	44	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	21	16.00	Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_SNF2_N,pfam_Chromo_domain,pfam_BRK_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.D1427Y	ENST00000557364.1	37	c.4279	CCDS53885.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.6|20.6	4.023721|4.023721	0.75390|0.75390	.|.	.|.	ENSG00000100888|ENSG00000100888	ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364|ENST00000555935	D;D;D|.	0.97811|.	-4.55;-4.55;-4.55|.	5.04|5.04	5.04|5.04	0.67666|0.67666	.|.	0.058491|.	0.64402|.	D|.	0.000002|.	T|.	0.73513|.	0.3596|.	M|M	0.66939|0.66939	2.045|2.045	0.80722|0.80722	D|D	1|1	P;P|.	0.48998|.	0.866;0.918|.	P;P|.	0.60236|.	0.746;0.871|.	T|.	0.72557|.	-0.4257|.	10|.	0.62326|.	D|.	0.03|.	-14.8581|-14.8581	17.33|17.33	0.87259|0.87259	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1427;1148|.	Q9HCK8;Q9HCK8-2|.	CHD8_HUMAN;.|.	Y|L	1148;1427;1147;1427|652	ENSP00000406288:D1148Y;ENSP00000382863:D1427Y;ENSP00000451601:D1427Y|.	ENSP00000262707:D1147Y|.	D|X	-|-	1|2	0|2	CHD8|CHD8	20938965|20938965	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.967000|0.967000	0.64934|0.64934	7.320000|7.320000	0.79064|0.79064	2.622000|2.622000	0.88805|0.88805	0.655000|0.655000	0.94253|0.94253	GAT|TGA	-	NULL		0.498	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHD8	protein_coding	OTTHUMT00000410436.1	C	NM_020920	-		21869125	-1	no_errors	ENST00000399982	ensembl	human	known	74_37	missense	SNP	1.000	A
NPAT	4863	genome.wustl.edu	37	11	108043652	108043652	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr11:108043652G>T	ENST00000278612.8	-	13	2164	c.2059C>A	c.(2059-2061)Ctg>Atg	p.L687M	NPAT_ENST00000610253.1_5'UTR	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	687					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|Gemini of coiled bodies (GO:0097504)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		GGAGGCGTCAGTGCAACTTTC	0.433																																																	0								ENSG00000149308						62.0	56.0	58.0					11																	108043652		1863	4091	5954	NPAT	SO:0001583	missense	0			-	HGNC	X97186	CCDS41710.1	11q22-q23	2008-02-01			ENSG00000149308	ENSG00000149308			7896	protein-coding gene	gene with protein product		601448				9205109	Standard	NM_002519		Approved	E14	uc001pjz.4	Q14207	OTTHUMG00000166385	ENST00000278612.8:c.2059C>A	11.37:g.108043652G>T	ENSP00000278612:p.Leu687Met	Somatic	0	30	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	7	30.00	A8K1V5|A8K6M2|Q13632|Q14967|Q16580|Q86W55|Q8IWE9	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	smart_LisH_dimerisation,pfscan_LisH_dimerisation	p.L687M	ENST00000278612.8	37	c.2059	CCDS41710.1	11	.	.	.	.	.	.	.	.	.	.	G	1.596	-0.527911	0.04112	.	.	ENSG00000149308	ENST00000278612	T	0.04603	3.59	5.91	-9.22	0.00675	.	0.914133	0.09269	N	0.825482	T	0.02267	0.0070	N	0.19112	0.55	0.09310	N	1	P;B	0.37207	0.587;0.4	B;B	0.32465	0.146;0.077	T	0.31696	-0.9934	10	0.44086	T	0.13	0.0048	7.0801	0.25227	0.1094:0.3133:0.4928:0.0845	.	687;687	B9EG70;Q14207	.;NPAT_HUMAN	M	687	ENSP00000278612:L687M	ENSP00000278612:L687M	L	-	1	2	NPAT	107548862	0.024000	0.19004	0.008000	0.14137	0.030000	0.12068	-1.158000	0.03153	-1.686000	0.01439	-0.795000	0.03280	CTG	-	NULL		0.433	NPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPAT	protein_coding	OTTHUMT00000389506.2	G	NM_002519	-		108043652	-1	no_errors	ENST00000278612	ensembl	human	known	74_37	missense	SNP	0.001	T
PRSS53	339105	genome.wustl.edu	37	16	31098211	31098211	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr16:31098211G>A	ENST00000280606.6	-	4	404	c.251C>T	c.(250-252)gCa>gTa	p.A84V	RP11-196G11.1_ENST00000529564.1_Missense_Mutation_p.A159V	NM_001039503.2	NP_001034592.1	Q2L4Q9	PRS53_HUMAN	protease, serine, 53	84	Peptidase S1 1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			large_intestine(1)|lung(3)	4						CAGTTCTGTTGCTGCTGCCCT	0.612																																																	0								ENSG00000151006						35.0	37.0	36.0					16																	31098211		2087	4231	6318	PRSS53	SO:0001583	missense	0			-	HGNC		CCDS42153.1	16p11.2	2010-05-07			ENSG00000151006	ENSG00000151006		"""Serine peptidases / Serine peptidases"""	34407	protein-coding gene	gene with protein product	"""polyserase 3"""	610561				16566820	Standard	NM_001039503		Approved	POL3S	uc002eaq.3	Q2L4Q9	OTTHUMG00000047358	ENST00000280606.6:c.251C>T	16.37:g.31098211G>A	ENSP00000280606:p.Ala84Val	Somatic	0	37	0.00		0.6177468263975125	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	3	75.00		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.A84V	ENST00000280606.6	37	c.251	CCDS42153.1	16	.	.	.	.	.	.	.	.	.	.	G	7.656	0.684001	0.14907	.	.	ENSG00000151006;ENSG00000255439	ENST00000280606;ENST00000529564	T;D	0.92595	-1.48;-3.07	5.75	-0.775	0.10988	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	1.178000	0.06878	U	0.801993	T	0.78978	0.4369	N	0.04994	-0.135	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.64765	-0.6330	10	0.16896	T	0.51	.	4.4063	0.11411	0.3407:0.0:0.4042:0.2551	.	84	Q2L4Q9	PRS53_HUMAN	V	84;159	ENSP00000280606:A84V;ENSP00000431371:A159V	ENSP00000280606:A84V	A	-	2	0	RP11-196G11.1;PRSS53	31005712	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.005000	0.13129	-0.227000	0.09884	-0.808000	0.03180	GCA	-	pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1		0.612	PRSS53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRSS53	protein_coding	OTTHUMT00000108580.4	G	NM_001081268	-		31098211	-1	no_errors	ENST00000280606	ensembl	human	known	74_37	missense	SNP	0.000	A
