#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ACTL6B	51412	genome.wustl.edu	37	7	100245130	100245131	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BH-A0BR-01A-21W-A12T-09	TCGA-BH-A0BR-10A-01D-A110-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	df82226e-2242-418b-9f5f-0a5e531826a4	9a94cf94-c89a-4460-83de-0574acf85969	g.chr7:100245130_100245131insG	ENST00000160382.5	-	8	801_802	c.695_696insC	c.(694-696)ccafs	p.P232fs		NM_016188.4	NP_057272.1	O94805	ACL6B_HUMAN	actin-like 6B	232					chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|nervous system development (GO:0007399)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	structural constituent of cytoskeleton (GO:0005200)|transcription coactivator activity (GO:0003713)			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					TCTTCCAGTTTGGGGGGGCACC	0.609																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB015906	CCDS5702.1	7q22	2008-02-01	2004-07-12	2004-07-14	ENSG00000077080	ENSG00000077080			160	protein-coding gene	gene with protein product		612458	"""actin-like 6"""	ACTL6		9799793	Standard	NM_016188		Approved	BAF53B	uc003uvy.3	O94805	OTTHUMG00000159661	ENST00000160382.5:c.696dupC	7.37:g.100245137_100245137dupG	ENSP00000160382:p.Pro232fs		A4D2D0|O75421	Frame_Shift_Ins	INS	pfam_Actin-like,smart_Actin-like,prints_Actin-like	p.N233fs	ENST00000160382.5	37	c.696_695	CCDS5702.1	7																																																																																			ACTL6B	-	pfam_Actin-like,smart_Actin-like	ENSG00000077080		0.609	ACTL6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTL6B	HGNC	protein_coding	OTTHUMT00000356745.1	43	0.00	0	-	NM_016188		100245130	100245131	-1	no_errors	ENST00000160382	ensembl	human	known	69_37n	frame_shift_ins	28	12.50	4	INS	1.000:1.000	G
ANKRD55	79722	genome.wustl.edu	37	5	55407411	55407411	+	Silent	SNP	G	G	A			TCGA-BH-A0BR-01A-21W-A12T-09	TCGA-BH-A0BR-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	df82226e-2242-418b-9f5f-0a5e531826a4	9a94cf94-c89a-4460-83de-0574acf85969	g.chr5:55407411G>A	ENST00000341048.4	-	10	1315	c.1164C>T	c.(1162-1164)atC>atT	p.I388I	ANKRD55_ENST00000504958.2_Silent_p.I345I|ANKRD55_ENST00000505970.2_5'UTR|ANKRD55_ENST00000434982.2_Silent_p.I100I	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55	388										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				TGGTACCCACGATGCTATCAA	0.458																																						dbGAP											0													293.0	281.0	285.0					5																	55407411		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK021857	CCDS34161.1	5q11.2	2013-01-10			ENSG00000164512	ENSG00000164512		"""Ankyrin repeat domain containing"""	25681	protein-coding gene	gene with protein product		615189					Standard	XM_005248599		Approved	FLJ11795	uc003jqu.3	Q3KP44	OTTHUMG00000162305	ENST00000341048.4:c.1164C>T	5.37:g.55407411G>A			B3KVT8|Q3KP45|Q9HAD3	Missense_Mutation	SNP	superfamily_Ankyrin_rpt-contain_dom	p.S133L	ENST00000341048.4	37	c.398	CCDS34161.1	5	.	.	.	.	.	.	.	.	.	.	.	9.502	1.103538	0.20632	.	.	ENSG00000164512	ENST00000505970	.	.	.	5.59	1.82	0.25136	.	.	.	.	.	T	0.63236	0.2494	.	.	.	0.58432	D	0.999995	.	.	.	.	.	.	T	0.63056	-0.6722	5	0.87932	D	0	.	8.1626	0.31207	0.4946:0.0:0.5054:0.0	.	.	.	.	L	133	.	ENSP00000422370:S133L	S	-	2	0	ANKRD55	55443168	0.935000	0.31712	0.933000	0.37362	0.588000	0.36517	0.315000	0.19451	0.425000	0.26087	-0.781000	0.03364	TCG	ANKRD55	-	NULL	ENSG00000164512		0.458	ANKRD55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD55	HGNC	protein_coding	OTTHUMT00000368510.4	198	0.00	0	G	NM_024669		55407411	55407411	-1	no_stop_codon:bad_bp_length_for_coding_region	ENST00000505970	ensembl	human	putative	69_37n	missense	338	20.56	88	SNP	0.945	A
C10orf32-ASMT	100528007	genome.wustl.edu	37	10	104614108	104614108	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0BR-01A-21W-A12T-09	TCGA-BH-A0BR-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	df82226e-2242-418b-9f5f-0a5e531826a4	9a94cf94-c89a-4460-83de-0574acf85969	g.chr10:104614108C>T	ENST00000299353.6	+	1	80	c.65C>T	c.(64-66)aCg>aTg	p.T22M	C10orf32_ENST00000369883.3_Missense_Mutation_p.T22M|C10orf32_ENST00000339834.5_Missense_Mutation_p.T22M					C10orf32-ASMT readthrough (NMD candidate)																		GGGCTTCTCACGGAGAAGGTG	0.592																																						dbGAP											0													50.0	38.0	42.0					10																	104614108		2203	4298	6501	-	-	-	SO:0001583	missense	0					10q24.32	2013-09-25			ENSG00000270316	ENSG00000270316			49183	other	readthrough							Standard	NR_037644		Approved				OTTHUMG00000184175	ENST00000299353.6:c.65C>T	10.37:g.104614108C>T	ENSP00000299353:p.Thr22Met			Missense_Mutation	SNP	NULL	p.T22M	ENST00000299353.6	37	c.65	CCDS7542.2	10	.	.	.	.	.	.	.	.	.	.	C	26.5	4.744861	0.89663	.	.	ENSG00000166275	ENST00000339834;ENST00000369883	.	.	.	5.92	5.0	0.66597	.	0.078041	0.52532	U	0.000068	T	0.60508	0.2274	L	0.44542	1.39	0.44067	D	0.996816	D	0.60575	0.988	P	0.51016	0.656	T	0.64441	-0.6407	9	0.62326	D	0.03	2.5594	15.3621	0.74487	0.0:0.8611:0.1389:0.0	.	21	Q96B45	CJ032_HUMAN	M	22	.	ENSP00000299353:T22M	T	+	2	0	C10orf32	104604098	0.998000	0.40836	0.976000	0.42696	0.906000	0.53458	3.100000	0.50275	1.481000	0.48307	0.561000	0.74099	ACG	C10orf32	-	NULL	ENSG00000166275		0.592	C10orf32-ASMT-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	C10orf32	HGNC	protein_coding	OTTHUMT00000468206.2	27	0.00	0	C			104614108	104614108	+1	no_errors	ENST00000299353	ensembl	human	known	69_37n	missense	47	24.19	15	SNP	1.000	T
PRR27	401137	genome.wustl.edu	37	4	71024261	71024261	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BH-A0BR-01A-21W-A12T-09	TCGA-BH-A0BR-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	df82226e-2242-418b-9f5f-0a5e531826a4	9a94cf94-c89a-4460-83de-0574acf85969	g.chr4:71024261C>T	ENST00000344526.5	+	3	481	c.292C>T	c.(292-294)Cag>Tag	p.Q98*	C4orf40_ENST00000502441.2_Intron|C4orf40_ENST00000502294.1_Nonsense_Mutation_p.Q98*	NM_214711.3	NP_999876.2	Q6MZM9	PRR27_HUMAN		98	Ala/Pro-rich.					extracellular vesicular exosome (GO:0070062)				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						CTTAGCTACTCAGTTGAATGT	0.502																																						dbGAP											0													267.0	255.0	259.0					4																	71024261		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0																														ENST00000344526.5:c.292C>T	4.37:g.71024261C>T	ENSP00000343172:p.Gln98*		A8MXP0|Q6MZR6	Nonsense_Mutation	SNP	NULL	p.Q98*	ENST00000344526.5	37	c.292	CCDS3535.1	4	.	.	.	.	.	.	.	.	.	.	C	16.63	3.177321	0.57692	.	.	ENSG00000187533	ENST00000502294;ENST00000344526	.	.	.	3.79	-3.5	0.04710	.	.	.	.	.	.	.	.	.	.	.	0.54753	A	0.999985	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	2.582	0.7518	0.00992	0.3387:0.3167:0.1705:0.1741	.	.	.	.	X	98	.	ENSP00000343172:Q98X	Q	+	1	0	C4orf40	71058850	0.000000	0.05858	0.000000	0.03702	0.052000	0.14988	-0.937000	0.03942	-0.532000	0.06332	0.205000	0.17691	CAG	C4orf40	-	NULL	ENSG00000187533		0.502	C4orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C4orf40	HGNC	protein_coding	OTTHUMT00000251558.1	285	0.00	0	C			71024261	71024261	+1	no_errors	ENST00000344526	ensembl	human	known	69_37n	nonsense	363	35.75	202	SNP	0.000	T
CAND2	23066	genome.wustl.edu	37	3	12845079	12845080	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BH-A0BR-01A-21W-A12T-09	TCGA-BH-A0BR-10A-01D-A110-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	df82226e-2242-418b-9f5f-0a5e531826a4	9a94cf94-c89a-4460-83de-0574acf85969	g.chr3:12845079_12845080insG	ENST00000456430.2	+	2	202_203	c.161_162insG	c.(160-165)ctccggfs	p.R55fs	CAND2_ENST00000295989.5_Frame_Shift_Ins_p.R55fs	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	55					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						AAGATGCTGCTCCGGCTCCTGG	0.614																																					GBM(43;676 868 1633 6395 37496)	dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS43053.1, CCDS54554.1	3p25.2	2008-02-05			ENSG00000144712	ENSG00000144712			30689	protein-coding gene	gene with protein product	"""TBP interacting protein"""	610403				9734811, 10441524	Standard	NM_012298		Approved	TIP120B, KIAA0667, Tp120b	uc003bxk.2	O75155	OTTHUMG00000155397	Exception_encountered	3.37:g.12845079_12845080insG	ENSP00000387641:p.Arg55fs		B9EGM9|E9KL24	Frame_Shift_Ins	INS	pfam_TATA-bd_TIP120,pfam_HEAT,superfamily_ARM-type_fold	p.R55fs	ENST00000456430.2	37	c.161_162	CCDS54554.1	3																																																																																			CAND2	-	superfamily_ARM-type_fold	ENSG00000144712		0.614	CAND2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CAND2	HGNC	protein_coding	OTTHUMT00000339856.4	59	0.00	0	-	XM_371617		12845079	12845080	+1	no_errors	ENST00000456430	ensembl	human	known	69_37n	frame_shift_ins	13	31.58	6	INS	0.997:0.545	G
CHD6	84181	genome.wustl.edu	37	20	40179966	40179966	+	Missense_Mutation	SNP	T	T	G	rs200225911		TCGA-BH-A0BR-01A-21W-A12T-09	TCGA-BH-A0BR-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	df82226e-2242-418b-9f5f-0a5e531826a4	9a94cf94-c89a-4460-83de-0574acf85969	g.chr20:40179966T>G	ENST00000373233.3	-	2	188	c.11A>C	c.(10-12)aAa>aCa	p.K4T	CHD6_ENST00000373222.3_Intron|CHD6_ENST00000309279.7_Missense_Mutation_p.K4T	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	4	Required for DNA-dependent ATPase activity.				ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TTTCTGTATTTTCATTTTCAT	0.328																																						dbGAP											0													73.0	79.0	77.0					20																	40179966		2202	4297	6499	-	-	-	SO:0001583	missense	0			AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.11A>C	20.37:g.40179966T>G	ENSP00000362330:p.Lys4Thr		Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_BRK_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,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.K4T	ENST00000373233.3	37	c.11	CCDS13317.1	20	.	.	.	.	.	.	.	.	.	.	T	14.38	2.516736	0.44763	.	.	ENSG00000124177	ENST00000373233;ENST00000309279;ENST00000440647	D;D	0.95377	-2.15;-3.69	5.22	5.22	0.72569	.	0.393509	0.22619	N	0.057723	D	0.91985	0.7461	L	0.29908	0.895	0.36057	D	0.841181	P	0.34522	0.455	B	0.37346	0.247	D	0.94067	0.7332	10	0.87932	D	0	-19.3815	11.6663	0.51376	0.0:0.0:0.0:1.0	.	4	Q8TD26	CHD6_HUMAN	T	4	ENSP00000362330:K4T;ENSP00000308684:K4T	ENSP00000308684:K4T	K	-	2	0	CHD6	39613380	1.000000	0.71417	1.000000	0.80357	0.790000	0.44656	3.315000	0.51951	2.317000	0.78254	0.460000	0.39030	AAA	CHD6	-	NULL	ENSG00000124177		0.328	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD6	HGNC	protein_coding	OTTHUMT00000079270.1	238	0.00	0	T			40179966	40179966	-1	no_errors	ENST00000373233	ensembl	human	known	69_37n	missense	222	25.50	76	SNP	1.000	G
CTAGE5	4253	genome.wustl.edu	37	14	39777695	39777695	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0BR-01A-21W-A12T-09	TCGA-BH-A0BR-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	df82226e-2242-418b-9f5f-0a5e531826a4	9a94cf94-c89a-4460-83de-0574acf85969	g.chr14:39777695C>T	ENST00000280083.3	+	13	1411	c.1097C>T	c.(1096-1098)tCa>tTa	p.S366L	CTAGE5_ENST00000348007.3_Missense_Mutation_p.S366L|CTAGE5_ENST00000396158.2_Missense_Mutation_p.S371L|CTAGE5_ENST00000557038.1_Missense_Mutation_p.S286L|CTAGE5_ENST00000553352.1_Missense_Mutation_p.S337L|CTAGE5_ENST00000556148.1_Missense_Mutation_p.S291L|CTAGE5_ENST00000341502.5_Missense_Mutation_p.S366L|CTAGE5_ENST00000396165.4_Missense_Mutation_p.S337L|CTAGE5_ENST00000341749.3_Missense_Mutation_p.S354L|RP11-407N17.3_ENST00000553728.1_Missense_Mutation_p.S901L|RP11-407N17.3_ENST00000603904.1_Missense_Mutation_p.S337L			O15320	CTGE5_HUMAN	CTAGE family, member 5	366					positive regulation of catalytic activity (GO:0043085)	membrane (GO:0016020)	enzyme activator activity (GO:0008047)		CTAGE5/SIP1(2)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)		TCTTTGCAGTCAGAAAACACA	0.279																																						dbGAP											0													29.0	32.0	31.0					14																	39777695		2184	4239	6423	-	-	-	SO:0001583	missense	0			U94780	CCDS9673.1, CCDS9674.1, CCDS9675.1, CCDS9676.1, CCDS58316.1, CCDS58317.1	14q21.1	2009-09-11	2004-08-24	2004-08-26	ENSG00000150527	ENSG00000150527			7057	protein-coding gene	gene with protein product		602132	"""meningioma expressed antigen 6 (coiled-coil proline-rich)"""	MGEA, MGEA6		9356211, 11149944	Standard	NM_203355		Approved	MEA6, cTAGE-5A, cTAGE-5B, cTAGE-5C, cTAGE-5D, MGEA11	uc001wvi.4	O15320	OTTHUMG00000140258	ENST00000280083.3:c.1097C>T	14.37:g.39777695C>T	ENSP00000280083:p.Ser366Leu		B3KRA6|B4DQS6|D3DSA6|G3XAC5|O00169|Q6MZN2|Q6P2R8|Q86TF6|Q8IX92|Q8IX93	Missense_Mutation	SNP	NULL	p.S371L	ENST00000280083.3	37	c.1112	CCDS9674.1	14	.	.	.	.	.	.	.	.	.	.	C	19.17	3.776180	0.70107	.	.	ENSG00000258941;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527	ENST00000553728;ENST00000341749;ENST00000557038;ENST00000382245;ENST00000396165;ENST00000341502;ENST00000396158;ENST00000280083;ENST00000556148;ENST00000348007;ENST00000553352	T;T;T;T;T;T;T;T;T;T	0.79554	2.34;-1.28;-1.28;-1.28;-1.28;-1.28;-1.28;-1.28;-1.28;-1.28	5.62	5.62	0.85841	.	.	.	.	.	T	0.82042	0.4951	M	0.79011	2.435	0.45477	D	0.998441	B;B;B;B;B;B	0.29671	0.254;0.065;0.079;0.065;0.089;0.036	B;B;B;B;B;B	0.32022	0.139;0.126;0.073;0.126;0.099;0.089	T	0.79157	-0.1919	8	.	.	.	.	17.4578	0.87612	0.0:1.0:0.0:0.0	.	328;371;366;366;337;354	F8W9E1;O15320-5;O15320-2;O15320;O15320-7;G3XAC5	.;.;.;CTGE5_HUMAN;.;.	L	901;354;286;328;337;366;371;366;291;366;337	ENSP00000452252:S901L;ENSP00000343897:S354L;ENSP00000450869:S286L;ENSP00000379468:S337L;ENSP00000339286:S366L;ENSP00000379462:S371L;ENSP00000280083:S366L;ENSP00000452562:S291L;ENSP00000343912:S366L;ENSP00000450449:S337L	.	S	+	2	0	CTAGE5;RP11-407N17.3	38847446	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	2.048000	0.41278	2.665000	0.90641	0.585000	0.79938	TCA	CTAGE5	-	NULL	ENSG00000150527		0.279	CTAGE5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	CTAGE5	HGNC	protein_coding	OTTHUMT00000276771.2	62	0.00	0	C	NM_005930		39777695	39777695	+1	no_errors	ENST00000396158	ensembl	human	known	69_37n	missense	121	13.57	19	SNP	1.000	T
CTTNBP2	83992	genome.wustl.edu	37	7	117420559	117420559	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A0BR-01A-21W-A12T-09	TCGA-BH-A0BR-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	df82226e-2242-418b-9f5f-0a5e531826a4	9a94cf94-c89a-4460-83de-0574acf85969	g.chr7:117420559T>C	ENST00000160373.3	-	7	2550	c.2459A>G	c.(2458-2460)aAt>aGt	p.N820S		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	820					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		TTTATTTCCATTTTTACAGGC	0.358																																						dbGAP											0													145.0	144.0	144.0					7																	117420559		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"""Ankyrin repeat domain containing"""	15679	protein-coding gene	gene with protein product		609772	"""cortactin binding protein 2"""	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.2459A>G	7.37:g.117420559T>C	ENSP00000160373:p.Asn820Ser		O43389|Q7LG11|Q9C0A5	Missense_Mutation	SNP	pfam_Cortactin-binding_p2_N,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.N820S	ENST00000160373.3	37	c.2459	CCDS5774.1	7	.	.	.	.	.	.	.	.	.	.	T	13.88	2.369693	0.42003	.	.	ENSG00000077063	ENST00000160373	T	0.64438	-0.1	5.62	4.45	0.53987	Ankyrin repeat-containing domain (3);	0.326711	0.40222	N	0.001156	T	0.56949	0.2020	L	0.37507	1.11	0.31588	N	0.6543	P	0.42556	0.783	P	0.45377	0.478	T	0.61744	-0.7000	10	0.31617	T	0.26	-4.5406	13.2643	0.60125	0.0:0.0:0.1322:0.8678	.	820	Q8WZ74	CTTB2_HUMAN	S	820	ENSP00000160373:N820S	ENSP00000160373:N820S	N	-	2	0	CTTNBP2	117207795	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.244000	0.51399	1.037000	0.40024	0.533000	0.62120	AAT	CTTNBP2	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000077063		0.358	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTTNBP2	HGNC	protein_coding	OTTHUMT00000059201.4	278	0.00	0	T	NM_033427		117420559	117420559	-1	no_errors	ENST00000160373	ensembl	human	known	69_37n	missense	354	13.87	57	SNP	1.000	C
DUSP6	1848	genome.wustl.edu	37	12	89745744	89745744	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0BR-01A-21W-A12T-09	TCGA-BH-A0BR-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	df82226e-2242-418b-9f5f-0a5e531826a4	9a94cf94-c89a-4460-83de-0574acf85969	g.chr12:89745744C>T	ENST00000279488.7	-	1	1304	c.73G>A	c.(73-75)Gag>Aag	p.E25K	DUSP6_ENST00000547140.1_5'Flank|DUSP6_ENST00000547291.1_5'Flank|DUSP6_ENST00000308385.6_Missense_Mutation_p.E25K	NM_001946.2	NP_001937.2	Q16828	DUS6_HUMAN	dual specificity phosphatase 6	25					cell differentiation (GO:0030154)|dorsal/ventral pattern formation (GO:0009953)|inactivation of MAPK activity (GO:0000188)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of apoptotic process (GO:0043065)|regulation of endodermal cell fate specification (GO:0042663)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of heart growth (GO:0060420)|response to drug (GO:0042493)|response to nitrosative stress (GO:0051409)|response to organic cyclic compound (GO:0014070)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)			large_intestine(5)|lung(8)|skin(2)|urinary_tract(1)	16						TCCAGCTGCTCGTTGAGCCAC	0.647																																					Colon(132;3456 5224)	dbGAP											0													36.0	36.0	36.0					12																	89745744		2197	4296	6493	-	-	-	SO:0001583	missense	0			BC037236	CCDS9033.1, CCDS9034.1	12q22-q23	2011-06-09				ENSG00000139318		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3072	protein-coding gene	gene with protein product		602748				8626780, 9205128	Standard	NM_001946		Approved	MKP-3, PYST1	uc001tay.3	Q16828		ENST00000279488.7:c.73G>A	12.37:g.89745744C>T	ENSP00000279488:p.Glu25Lys		O75109|Q53Y75|Q9BSH6	Missense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pirsf_MKP,prints_MKP,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	p.E25K	ENST00000279488.7	37	c.73	CCDS9033.1	12	.	.	.	.	.	.	.	.	.	.	C	18.51	3.640344	0.67244	.	.	ENSG00000139318	ENST00000279488;ENST00000308385;ENST00000548755	T;T;T	0.44881	0.91;0.91;0.91	5.46	4.58	0.56647	Rhodanese-like (4);	0.000000	0.85682	D	0.000000	T	0.56963	0.2021	M	0.83953	2.67	0.80722	D	1	D;B	0.55172	0.97;0.109	P;B	0.55577	0.779;0.085	T	0.60782	-0.7195	10	0.09843	T	0.71	.	14.4073	0.67090	0.0:0.9298:0.0:0.0702	.	25;25	Q16828-2;Q16828	.;DUS6_HUMAN	K	25	ENSP00000279488:E25K;ENSP00000307835:E25K;ENSP00000446858:E25K	ENSP00000279488:E25K	E	-	1	0	DUSP6	88269875	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.855000	0.69510	1.545000	0.49373	-0.140000	0.14226	GAG	DUSP6	-	pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pirsf_MKP	ENSG00000139318		0.647	DUSP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUSP6	HGNC	protein_coding	OTTHUMT00000406534.2	9	0.00	0	C	NM_001946, NM_022652		89745744	89745744	-1	no_errors	ENST00000279488	ensembl	human	known	69_37n	missense	7	36.36	4	SNP	1.000	T
EEA1	8411	genome.wustl.edu	37	12	93205078	93205078	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0BR-01A-21W-A12T-09	TCGA-BH-A0BR-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	df82226e-2242-418b-9f5f-0a5e531826a4	9a94cf94-c89a-4460-83de-0574acf85969	g.chr12:93205078C>T	ENST00000322349.8	-	17	2440	c.2176G>A	c.(2176-2178)Gaa>Aaa	p.E726K		NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	726	Gln/Glu/Lys-rich.				early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|synaptic vesicle to endosome fusion (GO:0016189)|vesicle fusion (GO:0006906)	axonal spine (GO:0044308)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|recycling endosome (GO:0055037)|serine-pyruvate aminotransferase complex (GO:0005969)	1-phosphatidylinositol binding (GO:0005545)|calmodulin binding (GO:0005516)|GTP-dependent protein binding (GO:0030742)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						TCTAGCTCTTCGGTTTTCTGT	0.348																																						dbGAP											0													38.0	40.0	39.0					12																	93205078		2198	4296	6494	-	-	-	SO:0001583	missense	0			L40157	CCDS31874.1	12q22	2007-02-23	2007-02-23			ENSG00000102189		"""Zinc fingers, FYVE domain containing"""	3185	protein-coding gene	gene with protein product		605070	"""early endosome antigen 1, 162kD"""			7768953, 9697774	Standard	NM_003566		Approved	ZFYVE2	uc001tck.3	Q15075	OTTHUMG00000170110	ENST00000322349.8:c.2176G>A	12.37:g.93205078C>T	ENSP00000317955:p.Glu726Lys		Q14221	Missense_Mutation	SNP	pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Znf_C2H2	p.E726K	ENST00000322349.8	37	c.2176	CCDS31874.1	12	.	.	.	.	.	.	.	.	.	.	C	29.2	4.989775	0.93106	.	.	ENSG00000102189	ENST00000322349	T	0.79845	-1.31	4.65	4.65	0.58169	.	0.000000	0.45867	U	0.000326	D	0.84365	0.5456	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	T	0.82675	-0.0340	10	0.28530	T	0.3	.	17.1696	0.86826	0.0:1.0:0.0:0.0	.	726	Q15075	EEA1_HUMAN	K	726	ENSP00000317955:E726K	ENSP00000317955:E726K	E	-	1	0	EEA1	91729209	1.000000	0.71417	0.997000	0.53966	0.844000	0.47949	7.588000	0.82629	2.140000	0.66376	0.585000	0.79938	GAA	EEA1	-	NULL	ENSG00000102189		0.348	EEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EEA1	HGNC	protein_coding	OTTHUMT00000407304.1	63	0.00	0	C	NM_003566		93205078	93205078	-1	no_errors	ENST00000322349	ensembl	human	known	69_37n	missense	87	28.69	35	SNP	1.000	T
EEF2	1938	genome.wustl.edu	37	19	3982347	3982347	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0BR-01A-21W-A12T-09	TCGA-BH-A0BR-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	df82226e-2242-418b-9f5f-0a5e531826a4	9a94cf94-c89a-4460-83de-0574acf85969	g.chr19:3982347C>T	ENST00000309311.6	-	5	776	c.688G>A	c.(688-690)Gag>Aag	p.E230K	EEF2_ENST00000600720.1_5'Flank|SNORD37_ENST00000384048.1_RNA	NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	230	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|hematopoietic progenitor cell differentiation (GO:0002244)|positive regulation of gene expression (GO:0010628)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation activator activity (GO:0008494)|translation elongation factor activity (GO:0003746)			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		ACATACATCTCGGCAAACTGC	0.597																																					Colon(165;1804 1908 4071 6587 18799)	dbGAP											0													81.0	80.0	80.0					19																	3982347		2203	4300	6503	-	-	-	SO:0001583	missense	0			Z11692	CCDS12117.1	19p13.3	2012-09-20			ENSG00000167658	ENSG00000167658			3214	protein-coding gene	gene with protein product	"""polypeptidyl-tRNA translocase"""	130610		EF2		2610926, 6427766	Standard	NM_001961		Approved	EEF-2	uc002lze.3	P13639		ENST00000309311.6:c.688G>A	19.37:g.3982347C>T	ENSP00000307940:p.Glu230Lys		B2RMP5|D6W618|Q58J86	Missense_Mutation	SNP	pfam_ProtSyn_GTP-bd,pfam_Transl_elong_EFG/EF2_IV,pfam_Transl_elong_EFG/EF2_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Transl_elong_init/rib_B-barrel,superfamily_Elongation_fac_G/III/V,smart_Transl_elong_EFG/EF2_IV,smart_Transl_elong_EFG/EF2_C,prints_ProtSyn_GTP-bd,tigrfam_Small_GTP-bd_dom	p.E230K	ENST00000309311.6	37	c.688	CCDS12117.1	19	.	.	.	.	.	.	.	.	.	.	C	16.82	3.228516	0.58777	.	.	ENSG00000167658	ENST00000543343;ENST00000309311	T	0.29917	1.55	5.81	4.78	0.61160	Protein synthesis factor, GTP-binding (1);	0.000000	0.85682	D	0.000000	T	0.40297	0.1111	L	0.39397	1.21	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	T	0.25328	-1.0135	10	0.02654	T	1	-63.1271	13.9308	0.63994	0.0:0.9272:0.0:0.0728	.	230	P13639	EF2_HUMAN	K	230	ENSP00000307940:E230K	ENSP00000307940:E230K	E	-	1	0	EEF2	3933347	1.000000	0.71417	0.888000	0.34837	0.887000	0.51463	7.773000	0.85462	1.469000	0.48083	0.561000	0.74099	GAG	EEF2	-	pfam_ProtSyn_GTP-bd	ENSG00000167658		0.597	EEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EEF2	HGNC	protein_coding	OTTHUMT00000457615.2	88	0.00	0	C	NM_001961		3982347	3982347	-1	no_errors	ENST00000309311	ensembl	human	known	69_37n	missense	39	33.90	20	SNP	1.000	T
ENPP1	5167	genome.wustl.edu	37	6	132207790	132207790	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0BR-01A-21W-A12T-09	TCGA-BH-A0BR-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	df82226e-2242-418b-9f5f-0a5e531826a4	9a94cf94-c89a-4460-83de-0574acf85969	g.chr6:132207790C>T	ENST00000360971.2	+	24	2553	c.2533C>T	c.(2533-2535)Cct>Tct	p.P845S		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	845	Nuclease.				3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|ATP catabolic process (GO:0006200)|biomineral tissue development (GO:0031214)|bone remodeling (GO:0046849)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to insulin stimulus (GO:0032869)|generation of precursor metabolites and energy (GO:0006091)|immune response (GO:0006955)|inorganic diphosphate transport (GO:0030505)|negative regulation of cell growth (GO:0030308)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of ossification (GO:0030279)|negative regulation of protein autophosphorylation (GO:0031953)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)|regulation of bone mineralization (GO:0030500)|riboflavin metabolic process (GO:0006771)|sequestering of triglyceride (GO:0030730)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|insulin receptor binding (GO:0005158)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|protein homodimerization activity (GO:0042803)|scavenger receptor activity (GO:0005044)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	ATCTCAGACGCCTTTGCACTG	0.378																																					Colon(104;336 1535 5856 11019 33782)	dbGAP											0													124.0	112.0	116.0					6																	132207790		2203	4300	6503	-	-	-	SO:0001583	missense	0			M57736	CCDS5150.2	6q22-q23	2008-02-07			ENSG00000197594	ENSG00000197594	3.1.4.1, 3.6.1.9		3356	protein-coding gene	gene with protein product		173335		NPPS, M6S1, PDNP1		1315502	Standard	NM_006208		Approved	PC-1, PCA1	uc011ecf.2	P22413	OTTHUMG00000015572	ENST00000360971.2:c.2533C>T	6.37:g.132207790C>T	ENSP00000354238:p.Pro845Ser		Q5T9R6|Q9NPZ3|Q9P1P6|Q9UP61|Q9Y6K3	Missense_Mutation	SNP	pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata	p.P845S	ENST00000360971.2	37	c.2533	CCDS5150.2	6	.	.	.	.	.	.	.	.	.	.	C	14.26	2.481982	0.44147	.	.	ENSG00000197594	ENST00000360971	T	0.68479	-0.33	6.07	5.2	0.72013	DNA/RNA non-specific endonuclease (2);Extracellular Endonuclease, subunit A (2);	0.190472	0.47093	D	0.000259	T	0.79221	0.4409	M	0.86740	2.835	0.46564	D	0.999105	D	0.64830	0.994	D	0.65323	0.934	T	0.79813	-0.1645	10	0.48119	T	0.1	-13.1007	14.4887	0.67634	0.0:0.9296:0.0:0.0704	.	845	P22413	ENPP1_HUMAN	S	845	ENSP00000354238:P845S	ENSP00000354238:P845S	P	+	1	0	ENPP1	132249483	0.000000	0.05858	0.530000	0.27963	0.385000	0.30292	1.093000	0.30939	2.885000	0.99019	0.655000	0.94253	CCT	ENPP1	-	pfam_DNA/RNA_non-sp_Endonuclease,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A	ENSG00000197594		0.378	ENPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENPP1	HGNC	protein_coding	OTTHUMT00000042238.2	115	0.00	0	C			132207790	132207790	+1	no_errors	ENST00000360971	ensembl	human	known	69_37n	missense	276	20.23	70	SNP	0.986	T
ETV4	2118	genome.wustl.edu	37	17	41610700	41610701	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BH-A0BR-01A-21W-A12T-09	TCGA-BH-A0BR-10A-01D-A110-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	df82226e-2242-418b-9f5f-0a5e531826a4	9a94cf94-c89a-4460-83de-0574acf85969	g.chr17:41610700_41610701insG	ENST00000319349.5	-	7	697_698	c.399_400insC	c.(397-402)cccagafs	p.R134fs	ETV4_ENST00000538265.1_Frame_Shift_Ins_p.R95fs|ETV4_ENST00000393664.2_Frame_Shift_Ins_p.R134fs|ETV4_ENST00000545089.1_Intron|ETV4_ENST00000586826.1_5'Flank|ETV4_ENST00000591713.1_Frame_Shift_Ins_p.R134fs|ETV4_ENST00000545954.1_Frame_Shift_Ins_p.R95fs	NM_001079675.2	NP_001073143.1	P43268	ETV4_HUMAN	ets variant 4	134					branching involved in mammary gland duct morphogenesis (GO:0060444)|cell differentiation (GO:0030154)|motor neuron axon guidance (GO:0008045)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell differentiation (GO:0048863)|transcription from RNA polymerase II promoter (GO:0006366)	nucleolus (GO:0005730)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)		EWSR1/ETV4(6)|CANT1/ETV4(3)|TMPRSS2/ETV4(13)|DDX5_ENST00000540698/ETV4(2)|KLK2/ETV4(2)	ovary(2)|upper_aerodigestive_tract(1)	3		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0798)		GCGATTTGTCTGGGGGGGTCAT	0.579			T	"""EWSR1, TMPRSS2, DDX5, KLK2, CANT1"""	"""Ewing sarcoma, Prostate carcinoma"""																																Esophageal Squamous(116;1540 1611 12927 31103 34118)	dbGAP		Dom	yes		17	17q21	2118	"""ets variant gene 4 (E1A enhancer binding protein, E1AF)"""		"""M, E"""	0																																										-	-	-	SO:0001589	frameshift_variant	0			U18018	CCDS11465.1, CCDS58553.1, CCDS59292.1	17q21	2014-04-30	2008-09-12			ENSG00000175832			3493	protein-coding gene	gene with protein product	"""E1A enhancer binding protein"""	600711	"""ets variant gene 4 (E1A enhancer-binding protein, E1AF)"""			8530053, 1547944	Standard	NM_001986		Approved	E1A-F, E1AF, PEA3	uc002idw.3	P43268		ENST00000319349.5:c.400dupC	17.37:g.41610707_41610707dupG	ENSP00000321835:p.Arg134fs		A8K314|B7Z5J3|B7Z9J6|Q96AW9	Frame_Shift_Ins	INS	pfam_ETS_PEA3_N,pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets	p.R133fs	ENST00000319349.5	37	c.400_399	CCDS11465.1	17																																																																																			ETV4	-	pfam_ETS_PEA3_N	ENSG00000175832		0.579	ETV4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ETV4	HGNC	protein_coding	OTTHUMT00000453489.1	36	0.00	0	-	NM_001986		41610700	41610701	-1	no_errors	ENST00000319349	ensembl	human	known	69_37n	frame_shift_ins	27	15.62	5	INS	1.000:1.000	G
FAM114A2	10827	genome.wustl.edu	37	5	153372571	153372571	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0BR-01A-21W-A12T-09	TCGA-BH-A0BR-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	df82226e-2242-418b-9f5f-0a5e531826a4	9a94cf94-c89a-4460-83de-0574acf85969	g.chr5:153372571C>T	ENST00000351797.4	-	14	1559	c.1483G>A	c.(1483-1485)Gag>Aag	p.E495K	FAM114A2_ENST00000518946.1_5'UTR|FAM114A2_ENST00000520313.1_Missense_Mutation_p.E425K|FAM114A2_ENST00000522858.1_Missense_Mutation_p.E495K|FAM114A2_ENST00000520667.1_Missense_Mutation_p.E495K	NM_018691.2	NP_061161.2	Q9NRY5	F1142_HUMAN	family with sequence similarity 114, member A2	495							purine nucleotide binding (GO:0017076)			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)|urinary_tract(1)	18						CCCTGCAGCTCATGTCTGTGT	0.478																																						dbGAP											0													173.0	161.0	165.0					5																	153372571		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF159700	CCDS4323.1	5q31-q33	2008-06-13	2008-06-13	2008-06-13	ENSG00000055147	ENSG00000055147			1333	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 3"""	C5orf3		10843801	Standard	XM_005268359		Approved	133K02	uc003lvc.3	Q9NRY5	OTTHUMG00000130147	ENST00000351797.4:c.1483G>A	5.37:g.153372571C>T	ENSP00000341597:p.Glu495Lys		B2R8D8|Q9H7E0	Missense_Mutation	SNP	pfam_DUF719	p.E495K	ENST00000351797.4	37	c.1483	CCDS4323.1	5	.	.	.	.	.	.	.	.	.	.	C	12.00	1.807303	0.31961	.	.	ENSG00000055147	ENST00000351797;ENST00000522858;ENST00000520667;ENST00000520313	T;T;T;T	0.17691	2.52;2.52;2.52;2.26	5.51	4.63	0.57726	.	0.815262	0.10842	N	0.628103	T	0.09512	0.0234	N	0.08118	0	0.22851	N	0.998654	P;P	0.46784	0.884;0.884	B;B	0.38842	0.283;0.283	T	0.10359	-1.0633	10	0.46703	T	0.11	-4.8181	11.2431	0.48980	0.0:0.9138:0.0:0.0862	.	425;495	E7ESJ7;Q9NRY5	.;F1142_HUMAN	K	495;495;495;425	ENSP00000341597:E495K;ENSP00000430489:E495K;ENSP00000430384:E495K;ENSP00000429088:E425K	ENSP00000341597:E495K	E	-	1	0	FAM114A2	153352764	0.928000	0.31464	0.182000	0.23118	0.121000	0.20230	1.090000	0.30902	2.741000	0.93983	0.655000	0.94253	GAG	FAM114A2	-	NULL	ENSG00000055147		0.478	FAM114A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM114A2	HGNC	protein_coding	OTTHUMT00000252455.1	201	0.00	0	C	NM_018691		153372571	153372571	-1	no_errors	ENST00000351797	ensembl	human	known	69_37n	missense	450	24.50	146	SNP	0.441	T
FAM174B	400451	genome.wustl.edu	37	15	93198621	93198621	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0BR-01A-21W-A12T-09	TCGA-BH-A0BR-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	df82226e-2242-418b-9f5f-0a5e531826a4	9a94cf94-c89a-4460-83de-0574acf85969	g.chr15:93198621G>A	ENST00000327355.5	-	1	567	c.269C>T	c.(268-270)aCc>aTc	p.T90I	FAM174B_ENST00000555748.1_5'UTR|FAM174B_ENST00000555696.1_5'Flank	NM_207446.2	NP_997329.2	Q3ZCQ3	F174B_HUMAN	family with sequence similarity 174, member B	90						integral component of membrane (GO:0016021)				endometrium(2)|lung(1)	3						TGCCTTGAGGGTGGGTAGGTC	0.672																																						dbGAP											0													23.0	28.0	26.0					15																	93198621		2109	4218	6327	-	-	-	SO:0001583	missense	0				CCDS45355.1	15q26.1	2012-10-03			ENSG00000185442	ENSG00000185442			34339	protein-coding gene	gene with protein product							Standard	NM_207446		Approved	LOC400451, MGC102891	uc010boe.3	Q3ZCQ3	OTTHUMG00000171744	ENST00000327355.5:c.269C>T	15.37:g.93198621G>A	ENSP00000329040:p.Thr90Ile		Q3ZCR9|Q8NBH7	Missense_Mutation	SNP	pfam_DUF1180	p.T90I	ENST00000327355.5	37	c.269	CCDS45355.1	15	.	.	.	.	.	.	.	.	.	.	G	15.67	2.903319	0.52333	.	.	ENSG00000185442	ENST00000327355	T	0.43688	0.94	3.62	2.7	0.31948	.	0.136544	0.48767	D	0.000166	T	0.55816	0.1944	M	0.62723	1.935	0.80722	D	1	D	0.67145	0.996	D	0.64687	0.928	T	0.57573	-0.7788	10	0.72032	D	0.01	-19.6929	10.5151	0.44885	0.0:0.0:0.8054:0.1946	.	90	Q3ZCQ3	F174B_HUMAN	I	90	ENSP00000329040:T90I	ENSP00000329040:T90I	T	-	2	0	FAM174B	90999625	1.000000	0.71417	0.997000	0.53966	0.548000	0.35241	2.236000	0.43052	0.750000	0.32877	-0.741000	0.03529	ACC	FAM174B	-	pfam_DUF1180	ENSG00000185442		0.672	FAM174B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM174B	HGNC	protein_coding	OTTHUMT00000414931.1	16	0.00	0	G	NM_207446		93198621	93198621	-1	no_errors	ENST00000327355	ensembl	human	known	69_37n	missense	10	37.50	6	SNP	1.000	A
FAM83A	84985	genome.wustl.edu	37	8	124195351	124195351	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BH-A0BR-01A-21W-A12T-09	TCGA-BH-A0BR-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	df82226e-2242-418b-9f5f-0a5e531826a4	9a94cf94-c89a-4460-83de-0574acf85969	g.chr8:124195351delG	ENST00000518448.1	+	2	2269	c.255delG	c.(253-255)ctgfs	p.L85fs	FAM83A_ENST00000546351.1_Frame_Shift_Del_p.L85fs|U3_ENST00000408534.1_RNA|FAM83A_ENST00000536633.1_Frame_Shift_Del_p.L85fs|FAM83A_ENST00000318462.6_Frame_Shift_Del_p.L85fs|FAM83A_ENST00000276699.6_Frame_Shift_Del_p.L85fs|FAM83A_ENST00000522648.1_Frame_Shift_Del_p.L85fs|RP11-539E17.5_ENST00000522383.1_RNA			Q86UY5	FA83A_HUMAN	family with sequence similarity 83, member A	85										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			CAGACACCCTGGGAGGGGCGG	0.682																																						dbGAP											0													38.0	39.0	39.0					8																	124195351		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			BC052300	CCDS6339.1, CCDS6340.1, CCDS75784.1	8q24.13	2014-03-13			ENSG00000147689	ENSG00000147689			28210	protein-coding gene	gene with protein product						22886303	Standard	XM_005251087		Approved	MGC14128, BJ-TSA-9	uc003ypx.3	Q86UY5	OTTHUMG00000165083	ENST00000518448.1:c.255delG	8.37:g.124195351delG	ENSP00000428876:p.Leu85fs		Q71HL2|Q8N7I1|Q96I47	Frame_Shift_Del	DEL	pfam_DUF1669	p.G86fs	ENST00000518448.1	37	c.255	CCDS6340.1	8																																																																																			FAM83A	-	pfam_DUF1669	ENSG00000147689		0.682	FAM83A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM83A	HGNC	protein_coding	OTTHUMT00000381737.1	18	0.00	0	G	NM_032899		124195351	124195351	+1	no_errors	ENST00000318462	ensembl	human	known	69_37n	frame_shift_del	17	14.29	3	DEL	0.000	-
FMN2	56776	genome.wustl.edu	37	1	240256070	240256070	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BH-A0BR-01A-21W-A12T-09	TCGA-BH-A0BR-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	df82226e-2242-418b-9f5f-0a5e531826a4	9a94cf94-c89a-4460-83de-0574acf85969	g.chr1:240256070C>T	ENST00000319653.9	+	1	891	c.661C>T	c.(661-663)Cag>Tag	p.Q221*		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	221	Gln-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			ccagcaacagcagcagcagca	0.672																																						dbGAP											0													14.0	15.0	15.0					1																	240256070		2174	4220	6394	-	-	-	SO:0001587	stop_gained	0			AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.661C>T	1.37:g.240256070C>T	ENSP00000318884:p.Gln221*		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Nonsense_Mutation	SNP	pfam_FH2_actin-bd,pfam_Formin_homology_1,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg,pfscan_DEP_dom	p.Q221*	ENST00000319653.9	37	c.661	CCDS31069.2	1	.	.	.	.	.	.	.	.	.	.	C	39	7.357068	0.98235	.	.	ENSG00000155816	ENST00000319653	.	.	.	2.97	2.97	0.34412	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	10.1318	0.42682	0.0:1.0:0.0:0.0	.	.	.	.	X	221	.	ENSP00000318884:Q221X	Q	+	1	0	FMN2	238322693	0.986000	0.35501	1.000000	0.80357	0.818000	0.46254	0.945000	0.29056	1.598000	0.50083	0.400000	0.26472	CAG	FMN2	-	NULL	ENSG00000155816		0.672	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMN2	HGNC	protein_coding	OTTHUMT00000096217.2	9	0.00	0	C	XM_371352		240256070	240256070	+1	no_errors	ENST00000319653	ensembl	human	known	69_37n	nonsense	11	42.11	8	SNP	0.991	T
FSD1L	83856	genome.wustl.edu	37	9	108226577	108226577	+	Missense_Mutation	SNP	A	A	T			TCGA-BH-A0BR-01A-21W-A12T-09	TCGA-BH-A0BR-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	df82226e-2242-418b-9f5f-0a5e531826a4	9a94cf94-c89a-4460-83de-0574acf85969	g.chr9:108226577A>T	ENST00000481272.1	+	3	291	c.172A>T	c.(172-174)Att>Ttt	p.I58F	FSD1L_ENST00000394926.3_Missense_Mutation_p.I26F|FSD1L_ENST00000495708.1_Missense_Mutation_p.I58F|FSD1L_ENST00000539376.1_5'UTR|FSD1L_ENST00000484973.1_Missense_Mutation_p.I26F|FSD1L_ENST00000374710.3_Missense_Mutation_p.I26F|FSD1L_ENST00000374716.4_Missense_Mutation_p.I26F|FSD1L_ENST00000480279.1_3'UTR	NM_001145313.1	NP_001138785.1	Q9BXM9	FSD1L_HUMAN	fibronectin type III and SPRY domain containing 1-like	58										NS(1)|endometrium(1)	2						TCAGAACTTTATTGATACACT	0.289																																						dbGAP											0													75.0	66.0	69.0					9																	108226577		692	1575	2267	-	-	-	SO:0001583	missense	0			AF316830	CCDS6765.2, CCDS47999.1, CCDS6765.3, CCDS75870.1	9q31	2013-02-11	2006-03-10	2006-03-10	ENSG00000106701	ENSG00000106701		"""Fibronectin type III domain containing"""	13753	protein-coding gene	gene with protein product		609829	"""cystatin and DUF19 domain containing 1"", ""coiled-coil domain containing 10"""	CSDUFD1, CCDC10, FSD1NL, FSD1CL		11267680	Standard	XM_005252254		Approved		uc004bcq.2	Q9BXM9	OTTHUMG00000020426	ENST00000481272.1:c.172A>T	9.37:g.108226577A>T	ENSP00000417492:p.Ile58Phe		A2A338|A6NKH7|B7Z5S6|B7Z5W3|Q5T879|Q5T880	Missense_Mutation	SNP	superfamily_FH2_actin-bd,smart_Bbox_C	p.I26F	ENST00000481272.1	37	c.76	CCDS47999.1	9	.	.	.	.	.	.	.	.	.	.	A	16.86	3.238458	0.58886	.	.	ENSG00000106701	ENST00000495708;ENST00000374716;ENST00000374710;ENST00000481272;ENST00000484973;ENST00000394926	T;T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74;0.74	5.05	1.3	0.21679	.	0.182095	0.32884	U	0.005526	T	0.49098	0.1537	M	0.65975	2.015	0.80722	D	1	P;P;P;D	0.53151	0.71;0.922;0.919;0.958	P;P;P;P	0.50270	0.561;0.556;0.636;0.587	T	0.47724	-0.9095	10	0.87932	D	0	.	5.7007	0.17881	0.6966:0.1444:0.159:0.0	.	26;58;26;26	F8W946;Q9BXM9;Q9BXM9-2;Q9BXM9-3	.;FSD1L_HUMAN;.;.	F	58;26;26;58;26;26	ENSP00000420624:I58F;ENSP00000363848:I26F;ENSP00000363842:I26F;ENSP00000417492:I58F;ENSP00000419691:I26F;ENSP00000378384:I26F	ENSP00000363842:I26F	I	+	1	0	FSD1L	107266398	1.000000	0.71417	0.998000	0.56505	0.669000	0.39330	2.665000	0.46791	0.317000	0.23160	-0.359000	0.07587	ATT	FSD1L	-	superfamily_FH2_actin-bd,smart_Bbox_C	ENSG00000106701		0.289	FSD1L-007	NOVEL	basic|CCDS	protein_coding	FSD1L	HGNC	protein_coding	OTTHUMT00000349935.1	140	0.00	0	A	NM_207647		108226577	108226577	+1	no_errors	ENST00000374716	ensembl	human	known	69_37n	missense	89	11.88	12	SNP	1.000	T
GAGE13	645051	genome.wustl.edu	37	X	49192769	49192769	+	Silent	SNP	G	G	A			TCGA-BH-A0BR-01A-21W-A12T-09	TCGA-BH-A0BR-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	df82226e-2242-418b-9f5f-0a5e531826a4	9a94cf94-c89a-4460-83de-0574acf85969	g.chrX:49192769G>A	ENST00000381751.1	+	4	364	c.282G>A	c.(280-282)ggG>ggA	p.G94G		NM_001098412.1	NP_001091882.1	Q4V321	GAG13_HUMAN	G antigen 13	94												Ovarian(276;0.236)					GTCCTGATGGGCAGGAGATGG	0.493																																						dbGAP											0																																										-	-	-	SO:0001819	synonymous_variant	0					Xp11.23	2008-05-13	2007-07-23	2007-07-23	ENSG00000237597	ENSG00000274274			29081	protein-coding gene	gene with protein product		300734	"""G antigen 12A"""	GAGE12A			Standard	NM_001098412		Approved	OTTHUMG00000024138		Q4V321	OTTHUMG00000024138	ENST00000381751.1:c.282G>A	X.37:g.49192769G>A				Silent	SNP	pfam_GAGE	p.G94	ENST00000381751.1	37	c.282	CCDS48110.1	X																																																																																			GAGE13	-	pfam_GAGE	ENSG00000237597		0.493	GAGE13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAGE13	HGNC	protein_coding	OTTHUMT00000060818.2	44	0.00	0	G			49192769	49192769	+1	no_errors	ENST00000381751	ensembl	human	known	69_37n	silent	64	23.81	20	SNP	0.001	A
GLYR1	84656	genome.wustl.edu	37	16	4862228	4862229	+	Frame_Shift_Ins	INS	-	-	C	rs533332243		TCGA-BH-A0BR-01A-21W-A12T-09	TCGA-BH-A0BR-10A-01D-A110-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	df82226e-2242-418b-9f5f-0a5e531826a4	9a94cf94-c89a-4460-83de-0574acf85969	g.chr16:4862228_4862229insC	ENST00000321919.9	-	13	1216_1217	c.1140_1141insG	c.(1138-1143)gggcgcfs	p.R381fs	GLYR1_ENST00000591451.1_Frame_Shift_Ins_p.R375fs|GLYR1_ENST00000381983.3_Frame_Shift_Ins_p.R364fs|GLYR1_ENST00000436648.5_Frame_Shift_Ins_p.R300fs	NM_032569.3	NP_115958	Q49A26	GLYR1_HUMAN	glyoxylate reductase 1 homolog (Arabidopsis)	381					pentose-phosphate shunt (GO:0006098)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|NAD binding (GO:0051287)|phosphogluconate dehydrogenase (decarboxylating) activity (GO:0004616)	p.R381fs*15(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						TCCAGAAAGCGCCCCCCCCTGG	0.574																																						dbGAP											1	Insertion - Frameshift(1)	large_intestine(1)								43,4221		0,43,2089						4.8	1.0			40	28,8226		0,28,4099	no	frameshift	GLYR1	NM_032569.3		0,71,6188	A1A1,A1R,RR		0.3392,1.0084,0.5672				71,12447				-	-	-	SO:0001589	frameshift_variant	0			AF244907	CCDS10524.1	16p13.3	2010-02-17			ENSG00000140632	ENSG00000140632			24434	protein-coding gene	gene with protein product	"""nuclear protein 60kDa"""	610660				16352664	Standard	NM_032569		Approved	BM045, HIBDL, NP60, N-PAC	uc002cxx.4	Q49A26	OTTHUMG00000129530	ENST00000321919.9:c.1141dupG	16.37:g.4862236_4862236dupC	ENSP00000322716:p.Arg381fs		B4DL47|C9JJ40|C9JJ60|Q5U632|Q6P1Q2|Q6V3W7|Q9BTI1|Q9BXK2	Frame_Shift_Ins	INS	pfam_6PGDH_NADP-bd,pfam_PWWP,pfam_NADP_OxRdtase_F420,superfamily_6-PGluconate_DH_C-like,smart_PWWP,pfscan_PWWP	p.R380fs	ENST00000321919.9	37	c.1141_1140	CCDS10524.1	16																																																																																			GLYR1	-	pfam_6PGDH_NADP-bd	ENSG00000140632		0.574	GLYR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GLYR1	HGNC	protein_coding	OTTHUMT00000251717.2	38	0.00	0	-	NM_032569		4862228	4862229	-1	no_errors	ENST00000321919	ensembl	human	known	69_37n	frame_shift_ins	77	10.47	9	INS	0.990:0.170	C
GNE	10020	genome.wustl.edu	37	9	36217505	36217505	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A0BR-01A-21W-A12T-09	TCGA-BH-A0BR-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	df82226e-2242-418b-9f5f-0a5e531826a4	9a94cf94-c89a-4460-83de-0574acf85969	g.chr9:36217505T>C	ENST00000539815.1	-	11	2066	c.2026A>G	c.(2026-2028)Atc>Gtc	p.I676V	GNE_ENST00000447283.2_Missense_Mutation_p.I602V|GNE_ENST00000543356.2_Missense_Mutation_p.I671V|GNE_ENST00000377902.5_Missense_Mutation_p.I676V|GNE_ENST00000539208.1_Missense_Mutation_p.I566V|GNE_ENST00000396594.3_Missense_Mutation_p.I707V			Q9Y223	GLCNE_HUMAN	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	676	N-acetylmannosamine kinase.				carbohydrate phosphorylation (GO:0046835)|cell adhesion (GO:0007155)|N-acetylglucosamine biosynthetic process (GO:0006045)|N-acetylneuraminate metabolic process (GO:0006054)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|metal ion binding (GO:0046872)|N-acylmannosamine kinase activity (GO:0009384)|UDP-N-acetylglucosamine 2-epimerase activity (GO:0008761)			endometrium(8)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			STAD - Stomach adenocarcinoma(86;0.228)			ACAATGTGGATATAGTGACTG	0.557																																					GBM(184;106 2118 20004 35750 50727)	dbGAP											0													120.0	91.0	101.0					9																	36217505		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF051852	CCDS6602.1, CCDS47965.1, CCDS55308.1, CCDS55309.1, CCDS55310.1	9p13.1	2008-02-05	2003-12-01		ENSG00000159921	ENSG00000159921			23657	protein-coding gene	gene with protein product		603824	"""UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase"""	IBM2		9305887, 9305888	Standard	NM_005476		Approved	Uae1	uc010mli.3	Q9Y223	OTTHUMG00000019899	ENST00000539815.1:c.2026A>G	9.37:g.36217505T>C	ENSP00000439155:p.Ile676Val		A6PZH2|A6PZH3|A7UNU7|B2R6E1|B7Z372|B7Z428|D3DRP7|F5H499|H0YFA7|Q0VA94	Missense_Mutation	SNP	pfam_UDP_GlcNAc_Epimerase_2,pfam_ROK,prints_Hexokinase,tigrfam_UDP-GlcNAc_Epase	p.I707V	ENST00000539815.1	37	c.2119	CCDS6602.1	9	.	.	.	.	.	.	.	.	.	.	T	7.206	0.594439	0.13875	.	.	ENSG00000159921	ENST00000377902;ENST00000396594;ENST00000339267;ENST00000539815;ENST00000543356;ENST00000539208;ENST00000447283	D;D;D;D;D	0.99532	-4.7;-4.7;-4.7;-4.7;-6.1	5.57	3.28	0.37604	.	0.227351	0.44902	D	0.000417	D	0.95720	0.8608	N	0.03154	-0.405	0.27036	N	0.964132	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0	D	0.91171	0.4968	10	0.10636	T	0.68	-11.8479	6.1747	0.20437	0.0:0.2352:0.0:0.7648	.	566;635;707;676;602	F5H499;Q9Y223-3;Q9Y223-2;Q9Y223;A7UNU7	.;.;.;GLCNE_HUMAN;.	V	676;707;671;676;648;566;602	ENSP00000367134:I676V;ENSP00000379839:I707V;ENSP00000439155:I676V;ENSP00000445117:I566V;ENSP00000414760:I602V	ENSP00000340770:I671V	I	-	1	0	GNE	36207505	0.738000	0.28186	0.993000	0.49108	0.989000	0.77384	1.171000	0.31896	2.119000	0.64992	0.459000	0.35465	ATC	GNE	-	NULL	ENSG00000159921		0.557	GNE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GNE	HGNC	protein_coding	OTTHUMT00000052412.4	91	0.00	0	T	NM_005476		36217505	36217505	-1	no_errors	ENST00000396594	ensembl	human	known	69_37n	missense	231	28.26	91	SNP	0.996	C
GOLGA6L17P	642402	genome.wustl.edu	37	15	85053188	85053188	+	RNA	SNP	C	C	G	rs201559925	byFrequency	TCGA-BH-A0BR-01A-21W-A12T-09	TCGA-BH-A0BR-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	df82226e-2242-418b-9f5f-0a5e531826a4	9a94cf94-c89a-4460-83de-0574acf85969	g.chr15:85053188C>G	ENST00000414190.2	-	0	264					NR_003246.2																						CCCTGTTCTCCGCAGCCCGAA	0.488																																						dbGAP											0																																										-	-	-			0																															15.37:g.85053188C>G				RNA	SNP	-	NULL	ENST00000414190.2	37	NULL		15																																																																																			GOLGA6L5	-	-	ENSG00000230373		0.488	GOLGA6L5-003	KNOWN	mRNA_end_NF|basic	processed_transcript	GOLGA6L5	HGNC	pseudogene	OTTHUMT00000418579.1	26	0.00	0	C			85053188	85053188	-1	no_errors	ENST00000414190	ensembl	human	known	69_37n	rna	12	45.45	10	SNP	0.002	G
HDAC2	3066	genome.wustl.edu	37	6	114274557	114274557	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0BR-01A-21W-A12T-09	TCGA-BH-A0BR-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	df82226e-2242-418b-9f5f-0a5e531826a4	9a94cf94-c89a-4460-83de-0574acf85969	g.chr6:114274557C>T	ENST00000519065.1	-	6	899	c.523G>A	c.(523-525)Gat>Aat	p.D175N	HDAC2_ENST00000398283.2_Missense_Mutation_p.D269N|HDAC2_ENST00000368632.2_Missense_Mutation_p.D145N|HDAC2_ENST00000519108.1_Missense_Mutation_p.D145N			Q92769	HDAC2_HUMAN	histone deacetylase 2	175	Histone deacetylase.				ATP-dependent chromatin remodeling (GO:0043044)|blood coagulation (GO:0007596)|cardiac muscle cell development (GO:0055013)|chromatin remodeling (GO:0006338)|circadian regulation of gene expression (GO:0032922)|dendrite development (GO:0016358)|embryonic digit morphogenesis (GO:0042733)|epidermal cell differentiation (GO:0009913)|eyelid development in camera-type eye (GO:0061029)|fungiform papilla formation (GO:0061198)|hair follicle placode formation (GO:0060789)|hippocampus development (GO:0021766)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|maintenance of chromatin silencing (GO:0006344)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell cycle (GO:0045786)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of neuron projection development (GO:0010977)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of proteolysis (GO:0045862)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of protein deacetylation (GO:0090311)|regulation of protein kinase B signaling (GO:0051896)|regulation of sarcomere organization (GO:0060297)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|replication fork (GO:0005657)|Sin3 complex (GO:0016580)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|deacetylase activity (GO:0019213)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|poly(A) RNA binding (GO:0044822)|protein deacetylase activity (GO:0033558)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	Aminophylline(DB01223)|Lovastatin(DB00227)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Valproic Acid(DB00313)|Vorinostat(DB02546)	ATATCTATATCAATATATAAG	0.343																																						dbGAP											0													106.0	101.0	103.0					6																	114274557		1828	4073	5901	-	-	-	SO:0001583	missense	0			U31814	CCDS43493.1, CCDS43493.2	6q21	2008-08-29			ENSG00000196591	ENSG00000196591			4853	protein-coding gene	gene with protein product		605164				9782097	Standard	NM_001527		Approved	RPD3, YAF1	uc003pwd.2	Q92769	OTTHUMG00000015411	ENST00000519065.1:c.523G>A	6.37:g.114274557C>T	ENSP00000430432:p.Asp175Asn		B3KRS5|B4DL58|E1P561|Q5SRI8|Q5SZ86|Q8NEH4	Missense_Mutation	SNP	pfam_His_deacetylse_dom,prints_His_deacetylse_1,prints_His_deacetylse	p.D269N	ENST00000519065.1	37	c.805	CCDS43493.2	6	.	.	.	.	.	.	.	.	.	.	C	36	5.755796	0.96898	.	.	ENSG00000196591	ENST00000519065;ENST00000398283;ENST00000519108;ENST00000368632	D;D;D;D	0.95001	-3.58;-3.58;-3.58;-3.58	5.76	5.76	0.90799	Histone deacetylase domain (2);	0.073664	0.56097	D	0.000037	D	0.98902	0.9628	H	0.99770	4.765	0.80722	D	1	D;D	0.76494	0.999;0.992	D;D	0.81914	0.995;0.933	D	0.99167	1.0863	10	0.87932	D	0	-41.1835	20.3431	0.98773	0.0:1.0:0.0:0.0	.	145;175	B3KRS5;Q92769	.;HDAC2_HUMAN	N	175;269;145;145	ENSP00000430432:D175N;ENSP00000381331:D269N;ENSP00000430008:D145N;ENSP00000357621:D145N	ENSP00000357621:D145N	D	-	1	0	HDAC2	114381250	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.776000	0.85560	2.880000	0.98712	0.650000	0.86243	GAT	HDAC2	-	pfam_His_deacetylse_dom,prints_His_deacetylse	ENSG00000196591		0.343	HDAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDAC2	HGNC	protein_coding	OTTHUMT00000041909.2	147	0.00	0	C			114274557	114274557	-1	no_errors	ENST00000398283	ensembl	human	known	69_37n	missense	162	16.92	33	SNP	1.000	T
HECTD4	283450	genome.wustl.edu	37	12	112600859	112600860	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BH-A0BR-01A-21W-A12T-09	TCGA-BH-A0BR-10A-01D-A110-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	df82226e-2242-418b-9f5f-0a5e531826a4	9a94cf94-c89a-4460-83de-0574acf85969	g.chr12:112600859_112600860insG	ENST00000430131.2	-	74	12985_12986	c.11840_11841insC	c.(11839-11841)ccafs	p.P3947fs	HECTD4_ENST00000377560.5_Frame_Shift_Ins_p.P4197fs|HECTD4_ENST00000549141.1_5'Flank|HECTD4_ENST00000550722.1_Frame_Shift_Ins_p.P4223fs			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	3947	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										CTGTGCCATCTGGGGGGGCGAT	0.629																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.11841dupC	12.37:g.112600866_112600866dupG	ENSP00000404379:p.Pro3947fs		L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Frame_Shift_Ins	INS	pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl,smart_HECT,pfscan_HECT	p.D4198fs	ENST00000430131.2	37	c.12591_12590		12																																																																																			HECTD4	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT	ENSG00000173064		0.629	HECTD4-202	KNOWN	basic	protein_coding	HECTD4	HGNC	protein_coding		25	0.00	0	-	NM_173813		112600859	112600860	-1	no_errors	ENST00000377560	ensembl	human	known	69_37n	frame_shift_ins	45	10.00	5	INS	0.555:1.000	G
HRG	3273	genome.wustl.edu	37	3	186395388	186395388	+	Missense_Mutation	SNP	G	G	A	rs539003389		TCGA-BH-A0BR-01A-21W-A12T-09	TCGA-BH-A0BR-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	df82226e-2242-418b-9f5f-0a5e531826a4	9a94cf94-c89a-4460-83de-0574acf85969	g.chr3:186395388G>A	ENST00000232003.4	+	7	1374	c.1294G>A	c.(1294-1296)Ggc>Agc	p.G432S		NM_000412.2	NP_000403.1	P04196	HRG_HUMAN	histidine-rich glycoprotein	432	His/Pro-rich (HRR).				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|chemotaxis (GO:0006935)|defense response to fungus (GO:0050832)|fibrinolysis (GO:0042730)|heme export (GO:0097037)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel remodeling (GO:2000504)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of immune response to tumor cell (GO:0002839)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of platelet activation (GO:0010543)|regulation of protein complex assembly (GO:0043254)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|response to organic cyclic compound (GO:0014070)	blood microparticle (GO:0072562)|endolysosome (GO:0036019)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|phagolysosome membrane (GO:0061474)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|heme binding (GO:0020037)|heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)|immunoglobulin binding (GO:0019865)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		CCATGGCCACGGCCCACCACC	0.562																																						dbGAP											0													75.0	58.0	64.0					3																	186395388		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS3280.1	3q27	2008-07-18			ENSG00000113905	ENSG00000113905			5181	protein-coding gene	gene with protein product	"""histidine-proline rich glycoprotein"", ""thrombophilia due to elevated HRG"""	142640				1678514	Standard	NM_000412		Approved	HRGP, HPRG	uc003fqq.3	P04196	OTTHUMG00000156578	ENST00000232003.4:c.1294G>A	3.37:g.186395388G>A	ENSP00000232003:p.Gly432Ser		B9EK35|D3DNU7	Missense_Mutation	SNP	pfam_Prot_inh_cystat,smart_Prot_inh_cystat	p.G432S	ENST00000232003.4	37	c.1294	CCDS3280.1	3	.	.	.	.	.	.	.	.	.	.	G	13.12	2.141484	0.37825	.	.	ENSG00000113905	ENST00000232003	T	0.22539	1.95	4.88	4.0	0.46444	.	0.239866	0.29594	N	0.011701	T	0.32376	0.0827	M	0.72118	2.19	0.09310	N	1	D	0.89917	1.0	P	0.54856	0.762	T	0.12502	-1.0545	10	0.23302	T	0.38	-3.9391	9.1582	0.37005	0.0992:0.0:0.9008:0.0	.	432	P04196	HRG_HUMAN	S	432	ENSP00000232003:G432S	ENSP00000232003:G432S	G	+	1	0	HRG	187878082	0.082000	0.21442	0.095000	0.20976	0.269000	0.26545	2.548000	0.45794	1.424000	0.47217	0.555000	0.69702	GGC	HRG	-	NULL	ENSG00000113905		0.562	HRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRG	HGNC	protein_coding	OTTHUMT00000344655.1	81	0.00	0	G	NM_000412		186395388	186395388	+1	no_errors	ENST00000232003	ensembl	human	known	69_37n	missense	591	15.57	109	SNP	0.110	A
JAG1	182	genome.wustl.edu	37	20	10627609	10627609	+	Silent	SNP	G	G	A			TCGA-BH-A0BR-01A-21W-A12T-09	TCGA-BH-A0BR-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	df82226e-2242-418b-9f5f-0a5e531826a4	9a94cf94-c89a-4460-83de-0574acf85969	g.chr20:10627609G>A	ENST00000254958.5	-	14	2378	c.1863C>T	c.(1861-1863)ttC>ttT	p.F621F	JAG1_ENST00000488480.1_RNA|JAG1_ENST00000423891.2_Silent_p.F462F	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	621	EGF-like 10. {ECO:0000255|PROSITE- ProRule:PRU00076}.				angiogenesis (GO:0001525)|aorta morphogenesis (GO:0035909)|auditory receptor cell differentiation (GO:0042491)|blood vessel remodeling (GO:0001974)|cardiac neural crest cell development involved in outflow tract morphogenesis (GO:0061309)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cell fate determination (GO:0001709)|ciliary body morphogenesis (GO:0061073)|distal tubule development (GO:0072017)|endocardial cushion cell development (GO:0061444)|endothelial cell differentiation (GO:0045446)|hemopoiesis (GO:0030097)|keratinocyte differentiation (GO:0030216)|loop of Henle development (GO:0072070)|morphogenesis of an epithelial sheet (GO:0002011)|myoblast differentiation (GO:0045445)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of stem cell differentiation (GO:2000737)|nervous system development (GO:0007399)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|response to muramyl dipeptide (GO:0032495)|T cell mediated immunity (GO:0002456)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						ATGTTCCCGTGAAGCCTTTGT	0.582									Alagille Syndrome																													dbGAP											0													175.0	158.0	164.0					20																	10627609		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	U61276	CCDS13112.1	20p12.1-p11.23	2011-05-12	2010-06-24		ENSG00000101384	ENSG00000101384		"""CD molecules"""	6188	protein-coding gene	gene with protein product		601920	"""Alagille syndrome"""	AGS, JAGL1		7697721, 9207788	Standard	NM_000214		Approved	AHD, AWS, HJ1, CD339	uc002wnw.2	P78504	OTTHUMG00000031872	ENST00000254958.5:c.1863C>T	20.37:g.10627609G>A			A0AV43|B4DYR1|E9PCF9|O14902|O15122|Q15816	Silent	SNP	pfam_EGF-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,smart_DSL,smart_EGF-like,smart_EGF-like_Ca-bd,smart_VWC_out,smart_VWF_C,pfscan_DSL,pfscan_EG-like_dom	p.F621	ENST00000254958.5	37	c.1863	CCDS13112.1	20																																																																																			JAG1	-	pfam_EGF_extracell,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom	ENSG00000101384		0.582	JAG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	JAG1	HGNC	protein_coding		116	0.00	0	G	NM_000214		10627609	10627609	-1	no_errors	ENST00000254958	ensembl	human	known	69_37n	silent	70	41.18	49	SNP	1.000	A
JPH4	84502	genome.wustl.edu	37	14	24040435	24040436	+	Frame_Shift_Ins	INS	-	-	C	rs144738828		TCGA-BH-A0BR-01A-21W-A12T-09	TCGA-BH-A0BR-10A-01D-A110-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	df82226e-2242-418b-9f5f-0a5e531826a4	9a94cf94-c89a-4460-83de-0574acf85969	g.chr14:24040435_24040436insC	ENST00000397118.3	-	6	2406_2407	c.1504_1505insG	c.(1504-1506)gcafs	p.A502fs	JPH4_ENST00000544177.1_Frame_Shift_Ins_p.A167fs|JPH4_ENST00000356300.4_Frame_Shift_Ins_p.A502fs	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN	junctophilin 4	502					calcium ion transport into cytosol (GO:0060402)|learning (GO:0007612)|neuromuscular process controlling balance (GO:0050885)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of synaptic plasticity (GO:0048167)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)		p.A502fs*12(2)|p.A502fs*8(1)		endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		CTGTGCGCCTGCCCCCCCCCAC	0.688																																						dbGAP											3	Insertion - Frameshift(2)|Deletion - Frameshift(1)	ovary(1)|lung(1)|pancreas(1)																																								-	-	-	SO:0001589	frameshift_variant	0			AB058734	CCDS9603.1	14q11	2004-05-28	2004-05-28	2004-05-28	ENSG00000092051	ENSG00000092051			20156	protein-coding gene	gene with protein product			"""junctophilin like 1"""	JPHL1		11347906	Standard	NM_032452		Approved	KIAA1831	uc001wkr.2	Q96JJ6	OTTHUMG00000028769	ENST00000397118.3:c.1505dupG	14.37:g.24040444_24040444dupC	ENSP00000380307:p.Ala502fs		D3DS53|Q8ND44|Q96DQ0	Frame_Shift_Ins	INS	pfam_MORN,smart_MORN,pirsf_Junctophilin	p.A502fs	ENST00000397118.3	37	c.1505_1504	CCDS9603.1	14																																																																																			JPH4	-	pirsf_Junctophilin	ENSG00000092051		0.688	JPH4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	JPH4	HGNC	protein_coding	OTTHUMT00000413853.1	26	0.00	0	-	NM_032452		24040435	24040436	-1	no_errors	ENST00000356300	ensembl	human	known	69_37n	frame_shift_ins	73	10.98	9	INS	0.051:0.057	C
KIAA1522	57648	genome.wustl.edu	37	1	33236015	33236015	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0BR-01A-21W-A12T-09	TCGA-BH-A0BR-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	df82226e-2242-418b-9f5f-0a5e531826a4	9a94cf94-c89a-4460-83de-0574acf85969	g.chr1:33236015C>G	ENST00000373480.1	+	6	1161	c.1058C>G	c.(1057-1059)tCc>tGc	p.S353C	KIAA1522_ENST00000373481.3_Missense_Mutation_p.S364C|KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000401073.2_Missense_Mutation_p.S412C	NM_001198972.1	NP_001185901.1	Q9P206	K1522_HUMAN	KIAA1522	353	Ser-rich.									breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CCATCCTCCTCCAGTGACACC	0.667																																						dbGAP											0													19.0	22.0	21.0					1																	33236015		2093	4208	6301	-	-	-	SO:0001583	missense	0			AL713671	CCDS41298.1, CCDS55588.1, CCDS55589.1	1p35.1	2009-02-18			ENSG00000162522	ENSG00000162522			29301	protein-coding gene	gene with protein product						10819331	Standard	NM_020888		Approved		uc001bvu.1	Q9P206	OTTHUMG00000008088	ENST00000373480.1:c.1058C>G	1.37:g.33236015C>G	ENSP00000362579:p.Ser353Cys		B4DQU8|B5MDY0|C9JH84|Q8TCQ0	Missense_Mutation	SNP	NULL	p.S412C	ENST00000373480.1	37	c.1235	CCDS55588.1	1	.	.	.	.	.	.	.	.	.	.	C	13.91	2.379165	0.42207	.	.	ENSG00000162522	ENST00000401073;ENST00000373481;ENST00000373480	T;T;T	0.14640	2.49;2.49;2.5	4.33	3.4	0.38934	.	0.000000	0.64402	D	0.000008	T	0.29389	0.0732	L	0.54323	1.7	0.28982	N	0.888554	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.73380	0.971;0.971;0.98	T	0.01884	-1.1254	10	0.72032	D	0.01	-15.3292	11.8877	0.52613	0.0:0.9136:0.0:0.0864	.	364;353;412	Q9P206-3;Q9P206;Q9P206-2	.;K1522_HUMAN;.	C	412;364;353	ENSP00000383851:S412C;ENSP00000362580:S364C;ENSP00000362579:S353C	ENSP00000362579:S353C	S	+	2	0	KIAA1522	33008602	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.393000	0.34497	2.100000	0.63781	0.561000	0.74099	TCC	KIAA1522	-	NULL	ENSG00000162522		0.667	KIAA1522-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIAA1522	HGNC	protein_coding	OTTHUMT00000022130.1	23	0.00	0	C			33236015	33236015	+1	no_errors	ENST00000401073	ensembl	human	known	69_37n	missense	60	16.67	12	SNP	1.000	G
KPRP	448834	genome.wustl.edu	37	1	152733184	152733184	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0BR-01A-21W-A12T-09	TCGA-BH-A0BR-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	df82226e-2242-418b-9f5f-0a5e531826a4	9a94cf94-c89a-4460-83de-0574acf85969	g.chr1:152733184G>A	ENST00000606109.1	+	1	1148	c.1120G>A	c.(1120-1122)Gta>Ata	p.V374I	KPRP_ENST00000368773.1_Missense_Mutation_p.V374I			Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	374	Pro-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGGCCACACGTAGAGCCACG	0.642																																						dbGAP											0													88.0	84.0	85.0					1																	152733184		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY960854	CCDS30862.1	1q21.3	2008-02-05	2007-02-02	2006-12-07	ENSG00000203786	ENSG00000203786			31823	protein-coding gene	gene with protein product		613260	"""chromosome 1 open reading frame 45"""	C1orf45		16297201	Standard	NM_001025231		Approved		uc001fal.1	Q5T749	OTTHUMG00000012402	ENST00000606109.1:c.1120G>A	1.37:g.152733184G>A	ENSP00000475216:p.Val374Ile			Missense_Mutation	SNP	NULL	p.V374I	ENST00000606109.1	37	c.1120	CCDS30862.1	1	.	.	.	.	.	.	.	.	.	.	G	8.083	0.772799	0.16051	.	.	ENSG00000203786	ENST00000368773	T	0.12147	2.71	5.09	-3.83	0.04269	.	1.950810	0.02556	N	0.096170	T	0.02304	0.0071	N	0.19112	0.55	0.09310	N	1	B	0.12013	0.005	B	0.04013	0.001	T	0.43163	-0.9408	10	0.41790	T	0.15	3.4363	3.9096	0.09197	0.2123:0.5011:0.1683:0.1183	.	374	Q5T749	KPRP_HUMAN	I	374	ENSP00000357762:V374I	ENSP00000357762:V374I	V	+	1	0	KPRP	150999808	0.000000	0.05858	0.000000	0.03702	0.184000	0.23303	-0.215000	0.09279	-0.286000	0.09076	-0.379000	0.06801	GTA	KPRP	-	NULL	ENSG00000203786		0.642	KPRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KPRP	HGNC	protein_coding	OTTHUMT00000034522.2	54	0.00	0	G	NM_001025231		152733184	152733184	+1	no_errors	ENST00000368773	ensembl	human	known	69_37n	missense	218	27.09	81	SNP	0.000	A
LAMTOR2	28956	genome.wustl.edu	37	1	156025183	156025184	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BH-A0BR-01A-21W-A12T-09	TCGA-BH-A0BR-10A-01D-A110-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	df82226e-2242-418b-9f5f-0a5e531826a4	9a94cf94-c89a-4460-83de-0574acf85969	g.chr1:156025183_156025184insG	ENST00000368305.4	+	2	336_337	c.198_199insG	c.(199-201)gacfs	p.D67fs	UBQLN4_ENST00000368309.3_5'Flank|LAMTOR2_ENST00000489664.1_3'UTR|LAMTOR2_ENST00000368304.5_Frame_Shift_Ins_p.D67fs|UBQLN4_ENST00000472638.1_5'Flank|LAMTOR2_ENST00000368302.3_Frame_Shift_Ins_p.D67fs	NM_014017.3	NP_054736.1	Q9Y2Q5	LTOR2_HUMAN	late endosomal/lysosomal adaptor, MAPK and MTOR activator 2	67	Required for location at endosomes. {ECO:0000250}.				activation of MAPKK activity (GO:0000186)|cell growth (GO:0016049)|cellular protein localization (GO:0034613)|cellular response to amino acid stimulus (GO:0071230)|positive regulation of GTPase activity (GO:0043547)|positive regulation of TOR signaling (GO:0032008)	extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|Ragulator complex (GO:0071986)				breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	7						CGTTTAATGAAGACAATCTCAA	0.589																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			BC024190	CCDS1128.1, CCDS44243.1	1q22	2014-09-17	2011-02-15	2011-02-15	ENSG00000116586	ENSG00000116586			29796	protein-coding gene	gene with protein product	"""mitogen activated protein binding protein interacting protein"", ""MAPKSP1 adaptor protein"", ""endosomal adaptor protein"""	610389	"""roadblock domain containing 3"""	ROBLD3		11042152	Standard	NM_014017		Approved	MAPBPIP, MAPKSP1AP, p14, ENDAP, Ragulator2	uc001fnb.3	Q9Y2Q5	OTTHUMG00000017462	ENST00000368305.4:c.199dupG	1.37:g.156025184_156025184dupG	ENSP00000357288:p.Asp67fs		Q5VY97|Q5VY98|Q5VY99	Frame_Shift_Ins	INS	pfam_Dynein_light-rel,smart_Dynein_light-rel	p.D66fs	ENST00000368305.4	37	c.198_199	CCDS1128.1	1																																																																																			LAMTOR2	-	pfam_Dynein_light-rel,smart_Dynein_light-rel	ENSG00000116586		0.589	LAMTOR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMTOR2	HGNC	protein_coding	OTTHUMT00000046197.1	74	0.00	0	-	NM_014017		156025183	156025184	+1	no_errors	ENST00000368302	ensembl	human	known	69_37n	frame_shift_ins	60	47.83	55	INS	1.000:1.000	G
LIN28A	79727	genome.wustl.edu	37	1	26737895	26737895	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A0BR-01A-21W-A12T-09	TCGA-BH-A0BR-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	df82226e-2242-418b-9f5f-0a5e531826a4	9a94cf94-c89a-4460-83de-0574acf85969	g.chr1:26737895C>A	ENST00000326279.6	+	2	164	c.50C>A	c.(49-51)gCa>gAa	p.A17E	LIN28A_ENST00000254231.4_Missense_Mutation_p.A17E	NM_024674.4	NP_078950.1	Q9H9Z2	LN28A_HUMAN	lin-28 homolog A (C. elegans)	17					germ cell development (GO:0007281)|miRNA catabolic process (GO:0010587)|negative regulation of glial cell differentiation (GO:0045686)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of translation (GO:0045727)|pre-miRNA processing (GO:0031054)|regulation of gene silencing by miRNA (GO:0060964)|regulation of transcription, DNA-templated (GO:0006355)|RNA 3'-end processing (GO:0031123)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|miRNA binding (GO:0035198)|mRNA binding (GO:0003729)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)	8						GCCAAGGCGGCAGAAGAGGCG	0.731																																						dbGAP											0													6.0	8.0	7.0					1																	26737895		2027	4075	6102	-	-	-	SO:0001583	missense	0			AF521099	CCDS280.1	1p35.3	2013-01-09	2010-04-06	2010-04-06	ENSG00000131914	ENSG00000131914		"""Zinc fingers, CCHC domain containing"""	15986	protein-coding gene	gene with protein product		611043	"""lin-28 homolog (C. elegans)"""	LIN28		12798299	Standard	XM_006710899		Approved	LIN-28, FLJ12457, ZCCHC1, CSDD1	uc001bmj.3	Q9H9Z2	OTTHUMG00000003550	ENST00000326279.6:c.50C>A	1.37:g.26737895C>A	ENSP00000363314:p.Ala17Glu			Missense_Mutation	SNP	pfam_CSP_DNA-bd,pfam_Znf_CCHC,superfamily_NA-bd_OB-fold-like,superfamily_Znf_CCHC,smart_Cold_shock_prot,smart_Znf_CCHC,pfscan_Znf_CCHC,prints_CSP_DNA-bd	p.A17E	ENST00000326279.6	37	c.50	CCDS280.1	1	.	.	.	.	.	.	.	.	.	.	C	10.64	1.406497	0.25378	.	.	ENSG00000131914	ENST00000326279;ENST00000254231	T;T	0.42131	0.98;0.98	4.37	4.37	0.52481	.	0.619552	0.14189	U	0.335451	T	0.25531	0.0621	N	0.14661	0.345	0.22601	N	0.998948	B	0.12630	0.006	B	0.12837	0.008	T	0.06516	-1.0822	10	0.07990	T	0.79	.	14.4721	0.67523	0.0:1.0:0.0:0.0	.	17	Q9H9Z2	LN28A_HUMAN	E	17	ENSP00000363314:A17E;ENSP00000254231:A17E	ENSP00000254231:A17E	A	+	2	0	LIN28A	26610482	0.997000	0.39634	1.000000	0.80357	0.914000	0.54420	1.998000	0.40796	1.953000	0.56701	0.650000	0.86243	GCA	LIN28A	-	NULL	ENSG00000131914		0.731	LIN28A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIN28A	HGNC	protein_coding	OTTHUMT00000009891.2	12	0.00	0	C	NM_024674		26737895	26737895	+1	no_errors	ENST00000254231	ensembl	human	known	69_37n	missense	12	29.41	5	SNP	1.000	A
LTBP2	4053	genome.wustl.edu	37	14	75017969	75017969	+	Missense_Mutation	SNP	C	C	T	rs137854858		TCGA-BH-A0BR-01A-21W-A12T-09	TCGA-BH-A0BR-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	df82226e-2242-418b-9f5f-0a5e531826a4	9a94cf94-c89a-4460-83de-0574acf85969	g.chr14:75017969C>T	ENST00000261978.4	-	7	1870	c.1484G>A	c.(1483-1485)cGg>cAg	p.R495Q	CTD-2207P18.1_ENST00000554552.1_lincRNA|LTBP2_ENST00000557425.1_5'UTR|LTBP2_ENST00000556690.1_Missense_Mutation_p.R495Q	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	495					protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		CACCCCGCCCCGCACCTGGGC	0.682																																						dbGAP											0													17.0	17.0	17.0					14																	75017969		2202	4299	6501	-	-	-	SO:0001583	missense	0				CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681		"""Latent transforming growth factor, beta binding proteins"""	6715	protein-coding gene	gene with protein product		602091	"""chromosome 14 open reading frame 141"""	LTBP3, C14orf141		7798248	Standard	NM_000428		Approved		uc001xqa.3	Q14767		ENST00000261978.4:c.1484G>A	14.37:g.75017969C>T	ENSP00000261978:p.Arg495Gln		Q99907|Q9NS51	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd,pfam_TB_dom,pfam_EGF-like_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom	p.R495Q	ENST00000261978.4	37	c.1484	CCDS9831.1	14	.	.	.	.	.	.	.	.	.	.	C	16.34	3.096796	0.56075	.	.	ENSG00000119681	ENST00000261978;ENST00000556690	T;T	0.22743	1.94;1.94	4.46	3.58	0.41010	.	0.000000	0.38217	N	0.001774	T	0.28101	0.0693	L	0.46157	1.445	0.33975	D	0.647221	D	0.76494	0.999	P	0.58970	0.849	T	0.32322	-0.9911	10	0.18710	T	0.47	.	8.3181	0.32113	0.0:0.8194:0.0:0.1806	.	495	Q14767	LTBP2_HUMAN	Q	495	ENSP00000261978:R495Q;ENSP00000451477:R495Q	ENSP00000261978:R495Q	R	-	2	0	LTBP2	74087722	0.995000	0.38212	0.943000	0.38184	0.588000	0.36517	2.228000	0.42981	1.090000	0.41315	0.455000	0.32223	CGG	LTBP2	-	NULL	ENSG00000119681		0.682	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LTBP2	HGNC	protein_coding	OTTHUMT00000413595.1	17	0.00	0	C	NM_000428		75017969	75017969	-1	no_errors	ENST00000261978	ensembl	human	known	69_37n	missense	3	62.50	5	SNP	0.994	T
PAK6	56924	genome.wustl.edu	37	15	40557093	40557094	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BH-A0BR-01A-21W-A12T-09	TCGA-BH-A0BR-10A-01D-A110-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	df82226e-2242-418b-9f5f-0a5e531826a4	9a94cf94-c89a-4460-83de-0574acf85969	g.chr15:40557093_40557094insC	ENST00000542403.2	+	2	218_219	c.107_108insC	c.(106-111)ctccccfs	p.LP36fs	PAK6_ENST00000453867.1_Frame_Shift_Ins_p.LP36fs|PAK6_ENST00000441369.1_Frame_Shift_Ins_p.LP36fs|PAK6_ENST00000560346.1_Frame_Shift_Ins_p.LP36fs|RP11-133K1.2_ENST00000558658.1_Frame_Shift_Ins_p.S130fs|PAK6_ENST00000455577.2_Frame_Shift_Ins_p.LP36fs|PAK6_ENST00000260404.4_Frame_Shift_Ins_p.LP36fs	NM_001276717.1	NP_001263646.1	Q9NQU5	PAK6_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 6	36	Linker.				apoptotic process (GO:0006915)|cytoskeleton organization (GO:0007010)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)		TTTGTGGGCCTCCCCCCACAAT	0.589																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF276893	CCDS10054.1, CCDS61590.1	15q14	2008-06-17	2008-06-17		ENSG00000137843	ENSG00000137843			16061	protein-coding gene	gene with protein product		608110	"""p21(CDKN1A)-activated kinase 6"""			11278661	Standard	NM_020168		Approved	PAK5	uc001zlb.3	Q9NQU5	OTTHUMG00000129921	ENST00000542403.2:c.113dupC	15.37:g.40557099_40557099dupC	ENSP00000439597:p.Leu36fs		A8K2G2|B3KYB0|G5E9R2	Frame_Shift_Ins	INS	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PAK_box_Rho-bd,superfamily_Kinase-like_dom,smart_PAK_box_Rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_PAK_box_Rho-bd,pfscan_Prot_kinase_cat_dom	p.Q39fs	ENST00000542403.2	37	c.107_108	CCDS10054.1	15																																																																																			PAK6	-	pfam_PAK_box_Rho-bd,smart_PAK_box_Rho-bd	ENSG00000137843		0.589	PAK6-004	NOVEL	alternative_3_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	PAK6	HGNC	protein_coding	OTTHUMT00000418355.1	63	0.00	0	-			40557093	40557094	+1	no_errors	ENST00000260404	ensembl	human	known	69_37n	frame_shift_ins	15	11.76	2	INS	1.000:0.997	C
PAX2	5076	genome.wustl.edu	37	10	102509528	102509529	+	Frame_Shift_Ins	INS	-	-	G	rs75462234|rs77453353		TCGA-BH-A0BR-01A-21W-A12T-09	TCGA-BH-A0BR-10A-01D-A110-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	df82226e-2242-418b-9f5f-0a5e531826a4	9a94cf94-c89a-4460-83de-0574acf85969	g.chr10:102509528_102509529insG	ENST00000428433.1	+	2	619_620	c.69_70insG	c.(70-72)gggfs	p.G24fs	PAX2_ENST00000370296.2_Frame_Shift_Ins_p.G24fs|PAX2_ENST00000361791.3_Frame_Shift_Ins_p.G24fs|PAX2_ENST00000556085.1_Frame_Shift_Ins_p.G23fs|PAX2_ENST00000553492.1_Intron|PAX2_ENST00000355243.3_Frame_Shift_Ins_p.G24fs	NM_003987.3|NM_003990.3	NP_003978|NP_003981.2	Q02962	PAX2_HUMAN	paired box 2	24	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.		G -> E (probable disease-associated mutation found in a patient with renal hypodysplasia). {ECO:0000269|PubMed:21380624}.		aging (GO:0007568)|axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye development (GO:0043010)|cell fate determination (GO:0001709)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucose stimulus (GO:0071333)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cochlea development (GO:0090102)|cochlea morphogenesis (GO:0090103)|glial cell differentiation (GO:0010001)|inner ear morphogenesis (GO:0042472)|mesenchymal to epithelial transition (GO:0060231)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesodermal cell fate specification (GO:0007501)|mesonephric duct development (GO:0072177)|mesonephric tubule formation (GO:0072172)|mesonephros development (GO:0001823)|metanephric collecting duct development (GO:0072205)|metanephric distal convoluted tubule development (GO:0072221)|metanephric epithelium development (GO:0072207)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchyme development (GO:0072075)|metanephric nephron tubule formation (GO:0072289)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic process involved in metanephric collecting duct development (GO:1900215)|negative regulation of apoptotic process involved in metanephric nephron tubule development (GO:1900218)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of cytolysis (GO:0045918)|negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis (GO:0072305)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|negative regulation of programmed cell death (GO:0043069)|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)|nephric duct formation (GO:0072179)|neural tube closure (GO:0001843)|optic chiasma development (GO:0061360)|optic cup morphogenesis involved in camera-type eye development (GO:0002072)|optic nerve development (GO:0021554)|optic nerve morphogenesis (GO:0021631)|optic nerve structural organization (GO:0021633)|pancreas development (GO:0031016)|paramesonephric duct development (GO:0061205)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0072108)|positive regulation of metanephric DCT cell differentiation (GO:2000594)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of optic nerve formation (GO:2000597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric field specification (GO:0039003)|pronephros development (GO:0048793)|protein kinase B signaling (GO:0043491)|reactive oxygen species metabolic process (GO:0072593)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of metanephros size (GO:0035566)|response to nutrient levels (GO:0031667)|retinal pigment epithelium development (GO:0003406)|stem cell differentiation (GO:0048863)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|ureter development (GO:0072189)|ureter maturation (GO:0035799)|ureter morphogenesis (GO:0072197)|urogenital system development (GO:0001655)|vestibulocochlear nerve formation (GO:0021650)|visual perception (GO:0007601)	centriolar satellite (GO:0034451)|lysosome (GO:0005764)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|protein complex (GO:0043234)|protein-DNA complex (GO:0032993)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|superoxide-generating NADPH oxidase activity (GO:0016175)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		TGAACCAGCTCGGGGGGGTGTT	0.663																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS7499.1, CCDS41561.1	10q24.31	2011-06-20	2007-07-12		ENSG00000075891	ENSG00000075891		"""Paired boxes"", ""Homeoboxes / PRD class"""	8616	protein-coding gene	gene with protein product		167409	"""paired box gene 2"""			8431641, 7981748	Standard	NM_003990		Approved		uc001krk.4	Q02962	OTTHUMG00000018913	ENST00000428433.1:c.76dupG	10.37:g.102509535_102509535dupG	ENSP00000396259:p.Gly24fs		Q15105|Q15110|Q15837|Q5SZP2|Q5SZP3	Frame_Shift_Ins	INS	pfam_Paired_dom,pfam_Pax2_C,superfamily_Homeodomain-like,smart_Paired_dom,prints_Paired_dom,pfscan_Paired_dom	p.V25fs	ENST00000428433.1	37	c.69_70	CCDS53569.1	10																																																																																			PAX2	-	pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,prints_Paired_dom,pfscan_Paired_dom	ENSG00000075891		0.663	PAX2-202	KNOWN	basic|CCDS	protein_coding	PAX2	HGNC	protein_coding		22	0.00	0	-			102509528	102509529	+1	no_errors	ENST00000370296	ensembl	human	known	69_37n	frame_shift_ins	14	12.50	2	INS	1.000:1.000	G
PKD1L3	342372	genome.wustl.edu	37	16	72020171	72020171	+	RNA	SNP	C	C	T			TCGA-BH-A0BR-01A-21W-A12T-09	TCGA-BH-A0BR-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	df82226e-2242-418b-9f5f-0a5e531826a4	9a94cf94-c89a-4460-83de-0574acf85969	g.chr16:72020171C>T	ENST00000534738.1	-	0	782							Q7Z443	PK1L3_HUMAN	polycystic kidney disease 1-like 3						cation transport (GO:0006812)|cellular response to acidic pH (GO:0071468)|detection of chemical stimulus involved in sensory perception of sour taste (GO:0001581)|neuropeptide signaling pathway (GO:0007218)|sensory perception of sour taste (GO:0050915)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)			autonomic_ganglia(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|lung(3)|skin(2)	22						TGAAGGTATTCGGATGACCTT	0.483																																						dbGAP											0													220.0	172.0	186.0					16																	72020171		692	1591	2283	-	-	-			0			AY164485	CCDS73912.1	16q22.2	2008-02-05				ENSG00000277481			21716	protein-coding gene	gene with protein product		607895				12782129	Standard	NM_181536		Approved		uc010vmm.2	Q7Z443			16.37:g.72020171C>T				RNA	SNP	-	NULL	ENST00000534738.1	37	NULL		16																																																																																			PKD1L3	-	-	ENSG00000187008		0.483	PKD1L3-001	KNOWN	basic	processed_transcript	PKD1L3	HGNC	processed_transcript	OTTHUMT00000387876.1	167	0.00	0	C	NM_181536		72020171	72020171	-1	no_errors	ENST00000335106	ensembl	human	known	69_37n	rna	292	19.34	70	SNP	0.000	T
POLD2	5425	genome.wustl.edu	37	7	44161448	44161448	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A0BR-01A-21W-A12T-09	TCGA-BH-A0BR-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	df82226e-2242-418b-9f5f-0a5e531826a4	9a94cf94-c89a-4460-83de-0574acf85969	g.chr7:44161448C>A	ENST00000406581.2	-	3	854	c.205G>T	c.(205-207)Gcc>Tcc	p.A69S	POLD2_ENST00000223361.3_Missense_Mutation_p.A69S|POLD2_ENST00000452185.1_Missense_Mutation_p.A69S|POLD2_ENST00000481763.1_5'Flank	NM_001256879.1	NP_001243808.1	P49005	DPOD2_HUMAN	polymerase (DNA directed), delta 2, accessory subunit	69					base-excision repair (GO:0006284)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	delta DNA polymerase complex (GO:0043625)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	12						TGCTGCTGGGCCCGGTTCTCC	0.542																																						dbGAP											0													45.0	40.0	42.0					7																	44161448		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS5477.1, CCDS75586.1	7p13	2012-05-18	2012-05-18		ENSG00000106628	ENSG00000106628		"""DNA polymerases"""	9176	protein-coding gene	gene with protein product	"""Pol delta B subunit (p50)"", ""DNA polymerase delta subunit p50"""	600815	"""polymerase (DNA directed), delta 2, regulatory subunit (50kD)"", ""polymerase (DNA directed), delta 2, regulatory subunit 50kDa"""			8530069	Standard	NM_001127218		Approved		uc003tkf.5	P49005	OTTHUMG00000022909	ENST00000406581.2:c.205G>T	7.37:g.44161448C>A	ENSP00000386105:p.Ala69Ser		A4D2J4|B2R5S4	Missense_Mutation	SNP	pfam_DNA_pol_alpha/epsilon_bsu	p.A69S	ENST00000406581.2	37	c.205	CCDS5477.1	7	.	.	.	.	.	.	.	.	.	.	C	29.2	4.988516	0.93106	.	.	ENSG00000106628	ENST00000406581;ENST00000223361;ENST00000452185;ENST00000436844;ENST00000433715;ENST00000456038;ENST00000418438	T;T;T;T	0.55052	0.54;0.56;0.54;0.71	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.68384	0.2995	M	0.85542	2.76	0.80722	D	1	P;D	0.56968	0.795;0.978	B;P	0.50754	0.4;0.649	T	0.74774	-0.3551	10	0.54805	T	0.06	-21.6124	18.4041	0.90528	0.0:1.0:0.0:0.0	.	69;69	P49005;F8W8R3	DPOD2_HUMAN;.	S	69	ENSP00000386105:A69S;ENSP00000223361:A69S;ENSP00000395231:A69S;ENSP00000416203:A69S	ENSP00000223361:A69S	A	-	1	0	POLD2	44127973	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.187000	0.77730	2.434000	0.82447	0.563000	0.77884	GCC	POLD2	-	NULL	ENSG00000106628		0.542	POLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLD2	HGNC	protein_coding	OTTHUMT00000250994.2	70	0.00	0	C	NM_001127218		44161448	44161448	-1	no_errors	ENST00000406581	ensembl	human	known	69_37n	missense	155	28.31	62	SNP	1.000	A
PRSS53	339105	genome.wustl.edu	37	16	31098991	31098992	+	Frame_Shift_Ins	INS	-	-	G	rs573693329		TCGA-BH-A0BR-01A-21W-A12T-09	TCGA-BH-A0BR-10A-01D-A110-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	df82226e-2242-418b-9f5f-0a5e531826a4	9a94cf94-c89a-4460-83de-0574acf85969	g.chr16:31098991_31098992insG	ENST00000280606.6	-	3	261_262	c.108_109insC	c.(106-111)cccaagfs	p.K37fs	RP11-196G11.1_ENST00000529564.1_Frame_Shift_Ins_p.K112fs	NM_001039503.2	NP_001034592.1	Q2L4Q9	PRS53_HUMAN	protease, serine, 53	37	Peptidase S1 1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			large_intestine(1)|lung(3)	4						TCCTGAGGCTTGGGGGGGCCGG	0.649																																						dbGAP											0										12,3818		0,12,1903						-0.2	0.1			24	15,7957		0,15,3971	no	frameshift	PRSS53	NM_001039503.2		0,27,5874	A1A1,A1R,RR		0.1882,0.3133,0.2288				27,11775				-	-	-	SO:0001589	frameshift_variant	0				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.109dupC	16.37:g.31098998_31098998dupG	ENSP00000280606:p.Lys37fs			Frame_Shift_Ins	INS	pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.K36fs	ENST00000280606.6	37	c.109_108	CCDS42153.1	16																																																																																			PRSS53	-	superfamily_Pept_cys/ser_Trypsin-like,pfscan_Peptidase_S1_S6	ENSG00000151006		0.649	PRSS53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRSS53	HGNC	protein_coding	OTTHUMT00000108580.4	44	0.00	0	-	NM_001081268		31098991	31098992	-1	no_errors	ENST00000280606	ensembl	human	known	69_37n	frame_shift_ins	42	10.64	5	INS	0.015:0.001	G
PTPRD	5789	genome.wustl.edu	37	9	8518366	8518366	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0BR-01A-21W-A12T-09	TCGA-BH-A0BR-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	df82226e-2242-418b-9f5f-0a5e531826a4	9a94cf94-c89a-4460-83de-0574acf85969	g.chr9:8518366G>A	ENST00000381196.4	-	18	1568	c.1025C>T	c.(1024-1026)aCg>aTg	p.T342M	PTPRD_ENST00000540109.1_Missense_Mutation_p.T342M|PTPRD_ENST00000356435.5_Missense_Mutation_p.T342M|PTPRD_ENST00000397606.3_Missense_Mutation_p.T332M|PTPRD_ENST00000397611.3_Missense_Mutation_p.T339M|PTPRD_ENST00000537002.1_Missense_Mutation_p.T339M|PTPRD_ENST00000360074.4_Missense_Mutation_p.T329M|PTPRD_ENST00000358503.5_Missense_Mutation_p.T329M|PTPRD_ENST00000355233.5_Missense_Mutation_p.T342M|PTPRD_ENST00000486161.1_Missense_Mutation_p.T342M|PTPRD_ENST00000397617.3_Missense_Mutation_p.T332M	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	342	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		AGAGTCCCACGTCAGTGTGAT	0.463										TSP Lung(15;0.13)																												dbGAP											0													86.0	95.0	92.0					9																	8518366		2203	4300	6503	-	-	-	SO:0001583	missense	0			X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.1025C>T	9.37:g.8518366G>A	ENSP00000370593:p.Thr342Met		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt	p.T342M	ENST00000381196.4	37	c.1025	CCDS43786.1	9	.	.	.	.	.	.	.	.	.	.	G	20.5	4.003972	0.74932	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	T;T;T;T;T;T;T;T;T;T;T	0.58940	0.3;0.3;0.3;0.3;0.3;0.3;0.3;0.3;0.3;0.3;0.3	5.19	5.19	0.71726	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.74619	0.3740	M	0.66439	2.03	0.80722	D	1	D;P;D;D;D;D;D;D;D	0.89917	0.978;0.954;0.989;0.997;0.996;0.972;0.988;1.0;0.974	P;P;P;D;P;P;P;D;P	0.74023	0.727;0.777;0.842;0.932;0.753;0.606;0.733;0.982;0.705	T	0.74328	-0.3701	9	.	.	.	.	18.7094	0.91651	0.0:0.0:1.0:0.0	.	332;336;342;342;339;339;329;342;342	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	M	342;342;329;329;342;332;339;339;342;342;342;332	ENSP00000370593:T342M;ENSP00000348812:T342M;ENSP00000353187:T329M;ENSP00000351293:T329M;ENSP00000347373:T342M;ENSP00000380741:T332M;ENSP00000380735:T339M;ENSP00000440515:T339M;ENSP00000438164:T342M;ENSP00000417093:T342M;ENSP00000380731:T332M	.	T	-	2	0	PTPRD	8508366	1.000000	0.71417	0.863000	0.33907	0.911000	0.54048	9.807000	0.99171	2.417000	0.82017	0.460000	0.39030	ACG	PTPRD	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000153707		0.463	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRD	HGNC	protein_coding	OTTHUMT00000055395.3	80	0.00	0	G			8518366	8518366	-1	no_errors	ENST00000356435	ensembl	human	known	69_37n	missense	47	38.16	29	SNP	1.000	A
RASGRP3	25780	genome.wustl.edu	37	2	33749576	33749576	+	Silent	SNP	C	C	G			TCGA-BH-A0BR-01A-21W-A12T-09	TCGA-BH-A0BR-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	df82226e-2242-418b-9f5f-0a5e531826a4	9a94cf94-c89a-4460-83de-0574acf85969	g.chr2:33749576C>G	ENST00000403687.3	+	9	1508	c.768C>G	c.(766-768)ctC>ctG	p.L256L	RASGRP3_ENST00000402538.3_Silent_p.L256L|RASGRP3_ENST00000407811.1_Silent_p.L256L	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	256	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				MAPK cascade (GO:0000165)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)	guanyl-nucleotide exchange factor complex (GO:0032045)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|guanyl-nucleotide exchange factor activity (GO:0005085)|Rap GTPase activator activity (GO:0046582)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					TTTCACGCCTCAAAGAGACCC	0.378																																						dbGAP											0													71.0	69.0	69.0					2																	33749576		1855	4092	5947	-	-	-	SO:0001819	synonymous_variant	0			AB020653	CCDS46256.1, CCDS54346.1	2p25.1-p24.1	2013-01-10			ENSG00000152689	ENSG00000152689		"""EF-hand domain containing"""	14545	protein-coding gene	gene with protein product		609531				10048485, 10934204	Standard	NM_170672		Approved	KIAA0846, GRP3	uc002roy.3	Q8IV61	OTTHUMG00000152124	ENST00000403687.3:c.768C>G	2.37:g.33749576C>G			D6W583|O94931|Q53SD7	Silent	SNP	pfam_RasGRF_CDC25,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_EF_hand_Ca-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_EF_HAND_2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_DAG/PE-bd	p.L256	ENST00000403687.3	37	c.768	CCDS46256.1	2																																																																																			RASGRP3	-	pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25	ENSG00000152689		0.378	RASGRP3-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	RASGRP3	HGNC	protein_coding	OTTHUMT00000325462.2	140	0.00	0	C	NM_015376		33749576	33749576	+1	no_errors	ENST00000402538	ensembl	human	known	69_37n	silent	184	23.33	56	SNP	1.000	G
RIN2	54453	genome.wustl.edu	37	20	19955585	19955586	+	Frame_Shift_Ins	INS	-	-	C	rs376152465		TCGA-BH-A0BR-01A-21W-A12T-09	TCGA-BH-A0BR-10A-01D-A110-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	df82226e-2242-418b-9f5f-0a5e531826a4	9a94cf94-c89a-4460-83de-0574acf85969	g.chr20:19955585_19955586insC	ENST00000255006.6	+	8	1212_1213	c.1063_1064insC	c.(1063-1065)tccfs	p.S355fs	RIN2_ENST00000440354.2_Intron|RIN2_ENST00000484638.1_3'UTR	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	306					endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of catalytic activity (GO:0050790)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	GTPase activator activity (GO:0005096)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|small GTPase regulator activity (GO:0005083)			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						GCGGACTCGGTCCCCCCCACCC	0.604																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB060339	CCDS56182.1	20p11.22	2008-07-30			ENSG00000132669	ENSG00000132669			18750	protein-coding gene	gene with protein product		610222				11733506, 1849280, 16423831	Standard	NM_018993		Approved	RASSF4	uc002wro.2	Q8WYP3	OTTHUMG00000031996	ENST00000255006.6:c.1070dupC	20.37:g.19955592_19955592dupC	ENSP00000255006:p.Ser355fs		Q00425|Q5TFT8|Q9BQL3|Q9H071	Frame_Shift_Ins	INS	pfam_VPS9,pfam_Ras-assoc,smart_VPS9_subgr,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SH2,pfscan_VPS9	p.P358fs	ENST00000255006.6	37	c.1063_1064	CCDS56182.1	20																																																																																			RIN2	-	NULL	ENSG00000132669		0.604	RIN2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RIN2	HGNC	protein_coding	OTTHUMT00000078212.1	37	0.00	0	-			19955585	19955586	+1	no_errors	ENST00000255006	ensembl	human	known	69_37n	frame_shift_ins	32	11.11	4	INS	1.000:0.999	C
RBPJL	11317	genome.wustl.edu	37	20	43942234	43942234	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0BR-01A-21W-A12T-09	TCGA-BH-A0BR-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	df82226e-2242-418b-9f5f-0a5e531826a4	9a94cf94-c89a-4460-83de-0574acf85969	g.chr20:43942234C>T	ENST00000343694.3	+	7	818	c.746C>T	c.(745-747)aCg>aTg	p.T249M	RBPJL_ENST00000372741.3_Missense_Mutation_p.T249M|RBPJL_ENST00000372743.1_Missense_Mutation_p.T249M	NM_001281448.1|NM_001281449.1|NM_014276.2	NP_001268377.1|NP_001268378.1|NP_055091.2	Q9UBG7	RBPJL_HUMAN	recombination signal binding protein for immunoglobulin kappa J region-like	249					positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Myeloproliferative disorder(115;0.0122)				GCTGCCTTCACGCTCCACCTG	0.562																																						dbGAP											0													66.0	54.0	58.0					20																	43942234		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB024964	CCDS13349.1, CCDS63283.1, CCDS63284.1	20q13.12	2013-10-18	2007-02-26	2007-02-26	ENSG00000124232	ENSG00000124232			13761	protein-coding gene	gene with protein product			"""recombining binding protein suppressor of hairless (Drosophila)-like"""	RBPSUHL		9929984	Standard	NM_014276		Approved	RBP-L, SUH, SUHL	uc002xns.3	Q9UBG7	OTTHUMG00000033055	ENST00000343694.3:c.746C>T	20.37:g.43942234C>T	ENSP00000341243:p.Thr249Met		O95723|Q5QPU9|Q5QPV0|Q9ULV9	Missense_Mutation	SNP	pfam_Beta-trefoil_DNA-bd_dom,pfam_LAG1_DNA-bd,superfamily_Beta-trefoil_DNA-bd_dom,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set	p.T249M	ENST00000343694.3	37	c.746	CCDS13349.1	20	.	.	.	.	.	.	.	.	.	.	C	16.27	3.077186	0.55753	.	.	ENSG00000124232	ENST00000372743;ENST00000372741;ENST00000343694	T;T;T	0.32988	1.43;1.43;1.43	4.85	3.9	0.45041	Beta-trefoil (2);	0.000000	0.85682	D	0.000000	T	0.49660	0.1570	M	0.70595	2.14	0.53688	D	0.999972	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.48603	-0.9021	10	0.54805	T	0.06	-17.9253	7.6811	0.28513	0.161:0.7562:0.0:0.0827	.	249;249	Q5QPV1;Q9UBG7	.;RBPJL_HUMAN	M	249	ENSP00000361828:T249M;ENSP00000361826:T249M;ENSP00000341243:T249M	ENSP00000341243:T249M	T	+	2	0	RBPJL	43375648	0.955000	0.32602	0.843000	0.33291	0.639000	0.38242	2.173000	0.42472	1.258000	0.44101	0.557000	0.71058	ACG	RBPJL	-	pfam_Beta-trefoil_DNA-bd_dom,superfamily_Beta-trefoil_DNA-bd_dom	ENSG00000124232		0.562	RBPJL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RBPJL	HGNC	protein_coding	OTTHUMT00000080391.1	72	0.00	0	C	NM_014276		43942234	43942234	+1	no_errors	ENST00000343694	ensembl	human	known	69_37n	missense	280	24.53	91	SNP	0.984	T
RNF14	9604	genome.wustl.edu	37	5	141362978	141362978	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BH-A0BR-01A-21W-A12T-09	TCGA-BH-A0BR-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	df82226e-2242-418b-9f5f-0a5e531826a4	9a94cf94-c89a-4460-83de-0574acf85969	g.chr5:141362978delA	ENST00000394520.2	+	7	1406	c.1097delA	c.(1096-1098)caafs	p.Q366fs	RNF14_ENST00000540015.1_Frame_Shift_Del_p.Q63fs|RNF14_ENST00000394515.3_Frame_Shift_Del_p.Q190fs|RNF14_ENST00000394514.2_Frame_Shift_Del_p.Q240fs|RNF14_ENST00000347642.3_Frame_Shift_Del_p.Q366fs|RNF14_ENST00000394519.1_Frame_Shift_Del_p.Q366fs|AC005740.5_ENST00000520882.1_RNA|RNF14_ENST00000356143.1_Frame_Shift_Del_p.Q366fs	NM_001201365.1|NM_004290.4	NP_001188294.1|NP_004281.1	Q9UBS8	RNF14_HUMAN	ring finger protein 14	366	Interaction with androgen receptor.				androgen receptor signaling pathway (GO:0030521)|positive regulation of transcription, DNA-templated (GO:0045893)|protein ubiquitination (GO:0016567)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|small conjugating protein ligase activity (GO:0019787)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15		all_hematologic(541;0.0536)|Ovarian(839;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		GAATACCTGCAAGCGGATGAG	0.343																																						dbGAP											0													65.0	66.0	65.0					5																	141362978		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF060544	CCDS4270.1, CCDS4271.1	5q23.3-q31.1	2008-02-05			ENSG00000013561	ENSG00000013561		"""RING-type (C3HC4) zinc fingers"""	10058	protein-coding gene	gene with protein product		605675				10085091, 10320776	Standard	NM_183399		Approved	ARA54, HFB30, TRIAD2	uc003lmc.3	Q9UBS8	OTTHUMG00000129660	ENST00000394520.2:c.1097delA	5.37:g.141362978delA	ENSP00000378028:p.Gln366fs		A0AV26|A6NMR2|A8MTW5|B3KN72|B7ZLV2|D3DQE4|O94793|Q6IBV0	Frame_Shift_Del	DEL	pfam_RWD-domain,pfam_Znf_C6HC,superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,smart_Znf_C6HC,pfscan_RWD-domain,pfscan_Znf_RING	p.A367fs	ENST00000394520.2	37	c.1097	CCDS4270.1	5																																																																																			RNF14	-	NULL	ENSG00000013561		0.343	RNF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF14	HGNC	protein_coding	OTTHUMT00000251860.2	112	0.00	0	A	NM_004290		141362978	141362978	+1	no_errors	ENST00000347642	ensembl	human	known	69_37n	frame_shift_del	145	18.89	34	DEL	1.000	-
RNF20	56254	genome.wustl.edu	37	9	104302598	104302598	+	Silent	SNP	A	A	C			TCGA-BH-A0BR-01A-21W-A12T-09	TCGA-BH-A0BR-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	df82226e-2242-418b-9f5f-0a5e531826a4	9a94cf94-c89a-4460-83de-0574acf85969	g.chr9:104302598A>C	ENST00000389120.3	+	3	333	c.243A>C	c.(241-243)cgA>cgC	p.R81R		NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	81					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|negative regulation of cell migration (GO:0030336)|positive regulation of histone methylation (GO:0031062)|positive regulation of transcription, DNA-templated (GO:0045893)|protein polyubiquitination (GO:0000209)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|ligase activity (GO:0016874)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		AACTGGAACGACGACAGGCCA	0.418																																						dbGAP											0													173.0	157.0	162.0					9																	104302598		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF265230	CCDS35084.1	9q22	2012-02-23	2012-02-23	2008-12-12	ENSG00000155827	ENSG00000155827		"""RING-type (C3HC4) zinc fingers"""	10062	protein-coding gene	gene with protein product	"""BRE1 E3 ubiquitin ligase homolog (S. cerevisiae)"""	607699	"""ring finger protein 20"""			16337599, 12876294, 18832071, 19037095	Standard	NM_019592		Approved	FLJ20382, FLJ11189, KAIA2779, BRE1A, hBRE1, BRE1	uc004bbn.3	Q5VTR2	OTTHUMG00000020385	ENST00000389120.3:c.243A>C	9.37:g.104302598A>C			A7MCT5|Q2TB34|Q69YL5|Q6P527|Q8N3J4|Q96JD3|Q9H9Y7|Q9HA51|Q9NUR4|Q9NWQ3|Q9NX83	Silent	SNP	superfamily_STAT_TF_coiled-coil,superfamily_Prefoldin,smart_Znf_RING,pfscan_Znf_RING	p.R81	ENST00000389120.3	37	c.243	CCDS35084.1	9																																																																																			RNF20	-	NULL	ENSG00000155827		0.418	RNF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF20	HGNC	protein_coding	OTTHUMT00000356402.1	115	0.00	0	A	NM_019592		104302598	104302598	+1	no_errors	ENST00000389120	ensembl	human	known	69_37n	silent	310	22.11	88	SNP	0.988	C
SAMD9	54809	genome.wustl.edu	37	7	92734890	92734890	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0BR-01A-21W-A12T-09	TCGA-BH-A0BR-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	df82226e-2242-418b-9f5f-0a5e531826a4	9a94cf94-c89a-4460-83de-0574acf85969	g.chr7:92734890C>T	ENST00000379958.2	-	3	790	c.521G>A	c.(520-522)cGt>cAt	p.R174H		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	174						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			CAACTTGTAACGATATGGATT	0.378																																						dbGAP											0													143.0	139.0	140.0					7																	92734890		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"""Sterile alpha motif (SAM) domain containing"""	1348	protein-coding gene	gene with protein product		610456	"""chromosome 7 open reading frame 5"""	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.521G>A	7.37:g.92734890C>T	ENSP00000369292:p.Arg174His		A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.R174H	ENST00000379958.2	37	c.521	CCDS34680.1	7	.	.	.	.	.	.	.	.	.	.	C	16.45	3.126040	0.56721	.	.	ENSG00000205413	ENST00000379958;ENST00000446617	T;T	0.15834	2.39;2.39	4.7	2.82	0.32997	.	0.463132	0.17194	N	0.183398	T	0.15696	0.0378	L	0.54323	1.7	0.23260	N	0.998026	B	0.21688	0.059	B	0.15484	0.013	T	0.16689	-1.0394	10	0.51188	T	0.08	.	7.3565	0.26721	0.0:0.7117:0.0:0.2883	.	174	Q5K651	SAMD9_HUMAN	H	174	ENSP00000369292:R174H;ENSP00000414529:R174H	ENSP00000369292:R174H	R	-	2	0	SAMD9	92572826	0.063000	0.20901	0.296000	0.24974	0.837000	0.47467	0.898000	0.28404	0.662000	0.31006	0.603000	0.83216	CGT	SAMD9	-	NULL	ENSG00000205413		0.378	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMD9	HGNC	protein_coding	OTTHUMT00000341761.1	172	0.00	0	C	NM_017654		92734890	92734890	-1	no_errors	ENST00000379958	ensembl	human	known	69_37n	missense	343	21.51	94	SNP	0.666	T
SART3	9733	genome.wustl.edu	37	12	108954695	108954695	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0BR-01A-21W-A12T-09	TCGA-BH-A0BR-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	df82226e-2242-418b-9f5f-0a5e531826a4	9a94cf94-c89a-4460-83de-0574acf85969	g.chr12:108954695G>A	ENST00000228284.3	-	1	470	c.236C>T	c.(235-237)tCc>tTc	p.S79F	ISCU_ENST00000539593.1_5'Flank|ISCU_ENST00000431221.2_5'Flank|ISCU_ENST00000535729.1_5'Flank|SART3_ENST00000552221.1_5'UTR|ISCU_ENST00000338291.4_5'Flank|SART3_ENST00000546611.1_Missense_Mutation_p.S79F|ISCU_ENST00000311893.9_5'Flank|ISCU_ENST00000392807.4_5'Flank|SART3_ENST00000431469.2_Missense_Mutation_p.S79F|ISCU_ENST00000547005.1_5'Flank	NM_014706.3	NP_055521.1	Q15020	SART3_HUMAN	squamous cell carcinoma antigen recognized by T cells 3	79					cell morphogenesis (GO:0000902)|hematopoietic stem cell proliferation (GO:0071425)|homeostasis of number of cells (GO:0048872)|regulation of gene expression (GO:0010468)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1)	25						CTCCCCGGGGGAGCTCTCCGC	0.632									Porokeratosis																													dbGAP											0													65.0	55.0	58.0					12																	108954695		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	incl.: Porokeratosis of Mibelli, Disseminated Superficial Actinic Porokertosis, Porokeratosis Palmaris Plantaris et Disseminata, Porokeratosis Punctata Palmaris et Plantaris, Linear Porokeratosis	AB020880	CCDS9117.1	12q24.11	2013-02-12	2006-12-07			ENSG00000075856		"""RNA binding motif (RRM) containing"""	16860	protein-coding gene	gene with protein product		611684	"""squamous cell carcinoma antigen recognised by T cells 3"""			12032085, 15840095, 20595234	Standard	NM_014706		Approved	KIAA0156, RP11-13G14, TIP110, p110	uc001tmz.1	Q15020	OTTHUMG00000169449	ENST00000228284.3:c.236C>T	12.37:g.108954695G>A	ENSP00000228284:p.Ser79Phe		A8K2E4|Q2M2H0|Q58F06|Q8IUS1|Q96J95	Missense_Mutation	SNP	pfam_RRM_dom,pfam_LSM_interact,smart_HAT,smart_RRM_dom,pfscan_RRM_dom	p.S79F	ENST00000228284.3	37	c.236	CCDS9117.1	12	.	.	.	.	.	.	.	.	.	.	G	23.6	4.440109	0.83993	.	.	ENSG00000075856	ENST00000228284;ENST00000431469;ENST00000412617;ENST00000546815;ENST00000546611	T;T;T;T	0.58797	0.64;0.64;0.64;0.31	5.38	4.44	0.53790	.	0.141236	0.46145	D	0.000320	T	0.66056	0.2751	L	0.39898	1.24	0.38929	D	0.957895	D;P;D;P	0.71674	0.965;0.94;0.998;0.94	P;P;D;P	0.79108	0.748;0.564;0.992;0.564	T	0.69522	-0.5123	10	0.87932	D	0	-24.6285	11.9374	0.52880	0.0:0.0:0.8269:0.173	.	27;79;79;79	E7EMI4;B7ZKM0;Q15020-3;Q15020	.;.;.;SART3_HUMAN	F	79;79;27;79;79	ENSP00000228284:S79F;ENSP00000414453:S79F;ENSP00000449386:S79F;ENSP00000448554:S79F	ENSP00000228284:S79F	S	-	2	0	SART3	107478825	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.572000	0.60886	2.698000	0.92095	0.561000	0.74099	TCC	SART3	-	NULL	ENSG00000075856		0.632	SART3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SART3	HGNC	protein_coding	OTTHUMT00000404094.1	110	0.00	0	G			108954695	108954695	-1	no_errors	ENST00000228284	ensembl	human	known	69_37n	missense	118	44.34	94	SNP	1.000	A
SERPINC1	462	genome.wustl.edu	37	1	173883952	173883952	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0BR-01A-21W-A12T-09	TCGA-BH-A0BR-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	df82226e-2242-418b-9f5f-0a5e531826a4	9a94cf94-c89a-4460-83de-0574acf85969	g.chr1:173883952C>T	ENST00000367698.3	-	2	265	c.147G>A	c.(145-147)atG>atA	p.M49I	SERPINC1_ENST00000494024.1_5'UTR	NM_000488.3	NP_000479.1	P01008	ANT3_HUMAN	serpin peptidase inhibitor, clade C (antithrombin), member 1	49					blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of inflammatory response (GO:0050728)|regulation of blood coagulation, intrinsic pathway (GO:2000266)|regulation of proteolysis (GO:0030162)|response to nutrient (GO:0007584)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1)	25					Ardeparin(DB00407)|Dalteparin(DB06779)|Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)|Nadroparin(DB08813)|Sulodexide(DB06271)|Tinzaparin(DB06822)	ACATGGGATTCATGGGAATGT	0.572											OREG0013990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													129.0	127.0	128.0					1																	173883952		2203	4300	6503	-	-	-	SO:0001583	missense	0			X68793	CCDS1313.1	1q25.1	2014-02-18	2005-08-18		ENSG00000117601	ENSG00000117601		"""Serine (or cysteine) peptidase inhibitors"""	775	protein-coding gene	gene with protein product	"""antithrombin III"", ""signal peptide antithrombin part 1"", ""coding sequence signal peptide antithrombin part 1"", ""antithrombin (aa 375-432)"""	107300	"""serine (or cysteine) proteinase inhibitor, clade C (antithrombin), member 1"""	AT3		3979120, 24172014	Standard	NM_000488		Approved	ATIII, MGC22579	uc001gjt.3	P01008	OTTHUMG00000037276	ENST00000367698.3:c.147G>A	1.37:g.173883952C>T	ENSP00000356671:p.Met49Ile	1911	B2R6P0|P78439|P78447|Q13815|Q5TC78|Q7KZ43|Q7KZ97|Q9UC78	Missense_Mutation	SNP	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom	p.M49I	ENST00000367698.3	37	c.147	CCDS1313.1	1	.	.	.	.	.	.	.	.	.	.	C	16.36	3.100684	0.56183	.	.	ENSG00000117601	ENST00000367698;ENST00000351522	D	0.81821	-1.54	5.77	5.77	0.91146	Serpin domain (1);	1.513000	0.03300	N	0.188799	T	0.52869	0.1761	N	0.08118	0	0.28724	N	0.902868	B	0.06786	0.001	B	0.06405	0.002	T	0.41680	-0.9495	10	0.31617	T	0.26	.	14.1809	0.65574	0.0:0.929:0.0:0.071	.	49	P01008	ANT3_HUMAN	I	49	ENSP00000356671:M49I	ENSP00000307953:M49I	M	-	3	0	SERPINC1	172150575	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	3.045000	0.49838	2.724000	0.93272	0.561000	0.74099	ATG	SERPINC1	-	superfamily_Sepin_dom	ENSG00000117601		0.572	SERPINC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINC1	HGNC	protein_coding	OTTHUMT00000090734.1	71	0.00	0	C	NM_000488		173883952	173883952	-1	no_errors	ENST00000367698	ensembl	human	known	69_37n	missense	124	24.85	41	SNP	1.000	T
SGOL1	151648	genome.wustl.edu	37	3	20216373	20216373	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0BR-01A-21W-A12T-09	TCGA-BH-A0BR-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	df82226e-2242-418b-9f5f-0a5e531826a4	9a94cf94-c89a-4460-83de-0574acf85969	g.chr3:20216373G>A	ENST00000263753.4	-	6	789	c.650C>T	c.(649-651)gCa>gTa	p.A217V	SGOL1_ENST00000412868.1_Missense_Mutation_p.A217V|SGOL1-AS1_ENST00000441442.1_RNA|SGOL1_ENST00000443724.1_Intron|SGOL1-AS1_ENST00000448208.1_RNA|SGOL1_ENST00000429446.3_Intron|SGOL1_ENST00000419233.2_Intron|SGOL1_ENST00000383774.1_Intron|SGOL1_ENST00000452020.1_Intron|SGOL1_ENST00000421451.1_Missense_Mutation_p.A217V|SGOL1_ENST00000306698.2_Intron|SGOL1_ENST00000437051.1_Intron|SGOL1_ENST00000425061.1_Intron|SGOL1_ENST00000417364.1_Intron|SGOL1_ENST00000412997.1_Missense_Mutation_p.A217V|SGOL1_ENST00000442720.1_Intron	NM_001012410.3|NM_001199252.1	NP_001012410.1|NP_001186181.1	Q5FBB7	SGOL1_HUMAN	shugoshin-like 1 (S. pombe)	217					attachment of spindle microtubules to kinetochore (GO:0008608)|centriole-centriole cohesion (GO:0010457)|chromosome segregation (GO:0007059)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|chromosome, centromeric region (GO:0000775)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)|spindle pole (GO:0000922)	kinase binding (GO:0019900)			kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2)	14						AGACTTCCCTGCCAAATGACT	0.368																																						dbGAP											0													127.0	123.0	124.0					3																	20216373		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC001339	CCDS2635.1, CCDS33716.1, CCDS46771.1, CCDS46772.1, CCDS46773.1, CCDS46774.1, CCDS56243.1	3p24.3	2005-07-27			ENSG00000129810	ENSG00000129810			25088	protein-coding gene	gene with protein product		609168				12747765	Standard	NM_001199251		Approved	NY-BR-85	uc003cbu.3	Q5FBB7	OTTHUMG00000130479	ENST00000263753.4:c.650C>T	3.37:g.20216373G>A	ENSP00000263753:p.Ala217Val		Q588H5|Q5FBB4|Q5FBB5|Q5FBB6|Q5FBB8|Q8N579|Q8WVL0|Q9BVA8|Q9H275	Missense_Mutation	SNP	pfam_Shugoshin_N,pfam_Shugoshin_C	p.A217V	ENST00000263753.4	37	c.650	CCDS33716.1	3	.	.	.	.	.	.	.	.	.	.	G	0.130	-1.114145	0.01799	.	.	ENSG00000129810	ENST00000263753;ENST00000421451;ENST00000412997;ENST00000412868	T;T;T;T	0.29142	1.58;1.58;1.6;1.6	5.74	2.98	0.34508	.	1.323510	0.04420	N	0.367373	T	0.15869	0.0382	N	0.14661	0.345	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.26018	-1.0115	10	0.05620	T	0.96	.	3.918	0.09231	0.294:0.0:0.5419:0.1642	.	217;217	B5BUA4;Q5FBB7	.;SGOL1_HUMAN	V	217	ENSP00000263753:A217V;ENSP00000414129:A217V;ENSP00000410458:A217V;ENSP00000406880:A217V	ENSP00000263753:A217V	A	-	2	0	SGOL1	20191377	0.000000	0.05858	0.000000	0.03702	0.696000	0.40369	0.588000	0.23924	0.355000	0.24131	-0.266000	0.10368	GCA	SGOL1	-	NULL	ENSG00000129810		0.368	SGOL1-009	KNOWN	basic|CCDS	protein_coding	SGOL1	HGNC	protein_coding	OTTHUMT00000340498.1	189	0.00	0	G	NM_138484		20216373	20216373	-1	no_errors	ENST00000263753	ensembl	human	known	69_37n	missense	144	31.75	67	SNP	0.000	A
SLC23A2	9962	genome.wustl.edu	37	20	4850568	4850569	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BH-A0BR-01A-21W-A12T-09	TCGA-BH-A0BR-10A-01D-A110-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	df82226e-2242-418b-9f5f-0a5e531826a4	9a94cf94-c89a-4460-83de-0574acf85969	g.chr20:4850568_4850569insG	ENST00000379333.1	-	12	1625_1626	c.1233_1234insC	c.(1231-1236)cccatcfs	p.I412fs	SLC23A2_ENST00000424750.2_Frame_Shift_Ins_p.I298fs|SLC23A2_ENST00000338244.1_Frame_Shift_Ins_p.I412fs|SNORA31_ENST00000516287.1_RNA|SLC23A2_ENST00000468355.1_5'UTR	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 2	412					L-ascorbic acid metabolic process (GO:0019852)|L-ascorbic acid transport (GO:0015882)|molecular hydrogen transport (GO:0015993)|nucleobase transport (GO:0015851)|nucleobase-containing compound metabolic process (GO:0006139)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|transepithelial L-ascorbic acid transport (GO:0070904)|vitamin metabolic process (GO:0006766)|vitamin transmembrane transport (GO:0035461)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-ascorbate:sodium symporter activity (GO:0008520)|L-ascorbic acid transporter activity (GO:0015229)|nucleobase transmembrane transporter activity (GO:0015205)|sodium-dependent L-ascorbate transmembrane transporter activity (GO:0070890)|sodium-dependent multivitamin transmembrane transporter activity (GO:0008523)	p.I412fs*4(1)		endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						ATTGCGTGGATGGGGGGGGGTG	0.525																																						dbGAP											1	Deletion - Frameshift(1)	ovary(1)																																								-	-	-	SO:0001589	frameshift_variant	0			AF058319	CCDS13085.1	20p13	2013-07-18	2013-07-18	2003-03-21	ENSG00000089057	ENSG00000089057		"""Solute carriers"""	10973	protein-coding gene	gene with protein product		603791	"""solute carrier family 23 (nucleobase transporters), member 1"""	SLC23A1		9804989, 10331392	Standard	NM_005116		Approved	SVCT2, KIAA0238, YSPL2	uc002wlh.1	Q9UGH3	OTTHUMG00000031793	ENST00000379333.1:c.1234dupC	20.37:g.4850577_4850577dupG	ENSP00000368637:p.Ile412fs		B4DJZ1|Q8WWR4|Q92512|Q96D54|Q9UNU1|Q9UP85	Frame_Shift_Ins	INS	pfam_Xant/urac/vitC	p.I411fs	ENST00000379333.1	37	c.1234_1233	CCDS13085.1	20																																																																																			SLC23A2	-	pfam_Xant/urac/vitC	ENSG00000089057		0.525	SLC23A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC23A2	HGNC	protein_coding	OTTHUMT00000077832.1	43	0.00	0	-			4850568	4850569	-1	no_errors	ENST00000338244	ensembl	human	known	69_37n	frame_shift_ins	35	10.26	4	INS	1.000:0.974	G
SLC35F3	148641	genome.wustl.edu	37	1	234454539	234454539	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A0BR-01A-21W-A12T-09	TCGA-BH-A0BR-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	df82226e-2242-418b-9f5f-0a5e531826a4	9a94cf94-c89a-4460-83de-0574acf85969	g.chr1:234454539G>T	ENST00000366617.3	+	5	1018	c.790G>T	c.(790-792)Gcc>Tcc	p.A264S	SLC35F3_ENST00000366618.3_Missense_Mutation_p.A333S			Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	264					thiamine transport (GO:0015888)	integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			GTTTGGAGAAGCCGCCTTATT	0.468																																						dbGAP											0													198.0	190.0	193.0					1																	234454539		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS1600.1, CCDS73050.1	1q42.3	2013-05-22			ENSG00000183780	ENSG00000183780		"""Solute carriers"""	23616	protein-coding gene	gene with protein product							Standard	XM_005273070		Approved	FLJ37712	uc001hvy.1	Q8IY50	OTTHUMG00000037929	ENST00000366617.3:c.790G>T	1.37:g.234454539G>T	ENSP00000355576:p.Ala264Ser		Q5TDD6|Q8N9C9	Missense_Mutation	SNP	pfam_DMT,pfam_DUF250,pfam_DUF914_euk	p.A333S	ENST00000366617.3	37	c.997		1	.	.	.	.	.	.	.	.	.	.	G	34	5.292671	0.95546	.	.	ENSG00000183780	ENST00000366618;ENST00000366617	T;T	0.33438	1.41;1.41	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.53965	0.1829	L	0.54323	1.7	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.83275	0.991;0.996	T	0.49234	-0.8961	10	0.52906	T	0.07	-25.811	19.8559	0.96758	0.0:0.0:1.0:0.0	.	264;333	Q8IY50;Q8IY50-2	S35F3_HUMAN;.	S	333;264	ENSP00000355577:A333S;ENSP00000355576:A264S	ENSP00000355576:A264S	A	+	1	0	SLC35F3	232521162	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.693000	0.91896	0.655000	0.94253	GCC	SLC35F3	-	pfam_DUF914_euk	ENSG00000183780		0.468	SLC35F3-002	KNOWN	basic|appris_candidate	protein_coding	SLC35F3	HGNC	protein_coding	OTTHUMT00000128322.1	211	0.00	0	G	NM_173508		234454539	234454539	+1	no_errors	ENST00000366618	ensembl	human	known	69_37n	missense	497	20.73	130	SNP	1.000	T
SORCS3	22986	genome.wustl.edu	37	10	107007042	107007042	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0BR-01A-21W-A12T-09	TCGA-BH-A0BR-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	df82226e-2242-418b-9f5f-0a5e531826a4	9a94cf94-c89a-4460-83de-0574acf85969	g.chr10:107007042G>C	ENST00000369701.3	+	22	3285	c.3058G>C	c.(3058-3060)Gag>Cag	p.E1020Q	SORCS3_ENST00000369699.4_3'UTR	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	1020					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TGACATTCCTGAGTGGAGAAA	0.388																																					NSCLC(116;1497 1690 7108 13108 14106)	dbGAP											0													128.0	122.0	124.0					10																	107007042		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.3058G>C	10.37:g.107007042G>C	ENSP00000358715:p.Glu1020Gln		Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom	p.E1020Q	ENST00000369701.3	37	c.3058	CCDS7558.1	10	.	.	.	.	.	.	.	.	.	.	G	31	5.091553	0.94149	.	.	ENSG00000156395	ENST00000369701	T	0.19938	2.11	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.51517	0.1679	M	0.84326	2.69	0.80722	D	1	D	0.71674	0.998	D	0.68765	0.96	T	0.52275	-0.8597	9	.	.	.	.	19.7426	0.96238	0.0:0.0:1.0:0.0	.	1020	Q9UPU3	SORC3_HUMAN	Q	1020	ENSP00000358715:E1020Q	.	E	+	1	0	SORCS3	106997032	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.174000	0.94824	2.741000	0.93983	0.650000	0.86243	GAG	SORCS3	-	NULL	ENSG00000156395		0.388	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORCS3	HGNC	protein_coding	OTTHUMT00000050221.1	286	0.00	0	G	NM_014978		107007042	107007042	+1	no_errors	ENST00000369701	ensembl	human	known	69_37n	missense	307	20.05	77	SNP	1.000	C
SPHKAP	80309	genome.wustl.edu	37	2	228884721	228884721	+	Silent	SNP	T	T	C			TCGA-BH-A0BR-01A-21W-A12T-09	TCGA-BH-A0BR-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	df82226e-2242-418b-9f5f-0a5e531826a4	9a94cf94-c89a-4460-83de-0574acf85969	g.chr2:228884721T>C	ENST00000392056.3	-	7	895	c.849A>G	c.(847-849)acA>acG	p.T283T	SPHKAP_ENST00000344657.5_Silent_p.T283T	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	283						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GAGATCGTTCTGTTTTAATCA	0.448																																						dbGAP											0													241.0	255.0	250.0					2																	228884721		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.849A>G	2.37:g.228884721T>C			Q68DA3|Q68DR8|Q9C0I5	Silent	SNP	pfam_AKAP_110_C	p.T283	ENST00000392056.3	37	c.849	CCDS46537.1	2																																																																																			SPHKAP	-	NULL	ENSG00000153820		0.448	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPHKAP	HGNC	protein_coding	OTTHUMT00000331750.1	238	0.00	0	T	NM_030623		228884721	228884721	-1	no_errors	ENST00000392056	ensembl	human	known	69_37n	silent	235	26.79	86	SNP	0.001	C
SPRED3	399473	genome.wustl.edu	37	19	38881061	38881062	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BH-A0BR-01A-21W-A12T-09	TCGA-BH-A0BR-10A-01D-A110-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	df82226e-2242-418b-9f5f-0a5e531826a4	9a94cf94-c89a-4460-83de-0574acf85969	g.chr19:38881061_38881062insG	ENST00000338502.4	+	1	222_223	c.119_120insG	c.(118-123)gaggggfs	p.EG40fs	GGN_ENST00000334928.6_5'Flank|SPRED3_ENST00000587564.2_3'UTR|SPRED3_ENST00000587013.1_Intron|SPRED3_ENST00000586301.1_Frame_Shift_Ins_p.EG40fs|GGN_ENST00000591809.1_5'Flank	NM_001042522.2	NP_001035987.1	Q2MJR0	SPRE3_HUMAN	sprouty-related, EVH1 domain containing 3	40	WH1. {ECO:0000255|PROSITE- ProRule:PRU00410}.				inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)	plasma membrane (GO:0005886)				central_nervous_system(2)|large_intestine(1)|lung(5)|skin(1)	9	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GCCAGGCCCGAGGGGGGGGCCC	0.728																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS42560.1	19q13	2007-10-05				ENSG00000188766			31041	protein-coding gene	gene with protein product		609293				14618415	Standard	NM_001042522		Approved		uc002oim.4	Q2MJR0		ENST00000338502.4:c.127dupG	19.37:g.38881069_38881069dupG	ENSP00000345405:p.Glu40fs		Q2MJR1	Frame_Shift_Ins	INS	pfam_Sprouty,pfam_EVH1,smart_EVH1,pfscan_EVH1	p.A43fs	ENST00000338502.4	37	c.119_120	CCDS42560.1	19																																																																																			SPRED3	-	smart_EVH1,pfscan_EVH1	ENSG00000188766		0.728	SPRED3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPRED3	HGNC	protein_coding	OTTHUMT00000459216.1	10	0.00	0	-	XM_351191		38881061	38881062	+1	no_errors	ENST00000338502	ensembl	human	known	69_37n	frame_shift_ins	6	40.00	4	INS	1.000:1.000	G
SPTLC1	10558	genome.wustl.edu	37	9	94817703	94817703	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A0BR-01A-21W-A12T-09	TCGA-BH-A0BR-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	df82226e-2242-418b-9f5f-0a5e531826a4	9a94cf94-c89a-4460-83de-0574acf85969	g.chr9:94817703C>A	ENST00000262554.2	-	8	769	c.764G>T	c.(763-765)tGt>tTt	p.C255F		NM_006415.2	NP_006406.1	O15269	SPTC1_HUMAN	serine palmitoyltransferase, long chain base subunit 1	255					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphinganine biosynthetic process (GO:0046511)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|serine C-palmitoyltransferase complex (GO:0017059)|SPOTS complex (GO:0035339)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)			breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14					L-Serine(DB00133)	TGGAAGAGGACAAATAGTTCC	0.363																																						dbGAP											0													74.0	73.0	73.0					9																	94817703		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y08685	CCDS6692.1, CCDS6693.1	9q22.31	2014-09-17	2003-12-02		ENSG00000090054	ENSG00000090054	2.3.1.50		11277	protein-coding gene	gene with protein product		605712	"""hereditary sensory neuropathy, type 1"""	HSN1		9363775	Standard	NM_006415		Approved	LCB1, SPTI, HSAN1, hLCB1	uc004arl.1	O15269	OTTHUMG00000021047	ENST00000262554.2:c.764G>T	9.37:g.94817703C>A	ENSP00000262554:p.Cys255Phe		A8K681|Q5VWB4|Q96IX6	Missense_Mutation	SNP	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom	p.C255F	ENST00000262554.2	37	c.764	CCDS6692.1	9	.	.	.	.	.	.	.	.	.	.	C	23.6	4.435439	0.83885	.	.	ENSG00000090054	ENST00000262554	D	0.89810	-2.57	5.44	5.44	0.79542	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.95648	0.8585	M	0.89840	3.065	0.80722	D	1	P;D;D	0.89917	0.828;1.0;0.965	D;D;D	0.72625	0.917;0.978;0.924	D	0.95929	0.8937	10	0.87932	D	0	-15.5845	19.4568	0.94895	0.0:1.0:0.0:0.0	.	255;250;255	Q6NUL7;Q59EQ4;O15269	.;.;SPTC1_HUMAN	F	255	ENSP00000262554:C255F	ENSP00000262554:C255F	C	-	2	0	SPTLC1	93857524	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.989000	0.76219	2.832000	0.97577	0.655000	0.94253	TGT	SPTLC1	-	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom	ENSG00000090054		0.363	SPTLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTLC1	HGNC	protein_coding	OTTHUMT00000055553.1	87	0.00	0	C	NM_006415		94817703	94817703	-1	no_errors	ENST00000262554	ensembl	human	known	69_37n	missense	190	25.20	64	SNP	1.000	A
TDRD1	56165	genome.wustl.edu	37	10	115981122	115981122	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0BR-01A-21W-A12T-09	TCGA-BH-A0BR-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	df82226e-2242-418b-9f5f-0a5e531826a4	9a94cf94-c89a-4460-83de-0574acf85969	g.chr10:115981122C>G	ENST00000369280.1	+	20	3237	c.2777C>G	c.(2776-2778)tCt>tGt	p.S926C	TDRD1_ENST00000251864.2_Missense_Mutation_p.S926C|TDRD1_ENST00000422662.1_Missense_Mutation_p.S530C|TDRD1_ENST00000369281.2_Missense_Mutation_p.S812C|TDRD1_ENST00000369282.1_Missense_Mutation_p.S926C			Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	926					DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ cell development (GO:0007281)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)	metal ion binding (GO:0046872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		CCAGCTACCTCTTCAGCTGAG	0.343																																						dbGAP											0													84.0	84.0	84.0					10																	115981122		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF285606	CCDS7588.1	10q26.11	2013-01-23			ENSG00000095627	ENSG00000095627		"""Tudor domain containing"""	11712	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.1"""	605796				11279525	Standard	NM_198795		Approved	CT41.1	uc001lbg.1	Q9BXT4	OTTHUMG00000019083	ENST00000369280.1:c.2777C>G	10.37:g.115981122C>G	ENSP00000358286:p.Ser926Cys		A6NEN3|A6NMN2|B3KVI4|B4E2L5|D3DRC2|Q4G0Y8|Q6P518|Q9H7B3	Missense_Mutation	SNP	pfam_Tudor,pfam_Znf_MYND,smart_Tudor,pfscan_Tudor,pfscan_Znf_MYND	p.S926C	ENST00000369280.1	37	c.2777		10	.	.	.	.	.	.	.	.	.	.	C	12.83	2.054210	0.36277	.	.	ENSG00000095627	ENST00000369282;ENST00000251864;ENST00000369281;ENST00000422662;ENST00000369280	T;T;T;T;T	0.19938	2.95;2.93;2.11;2.4;2.95	5.92	5.01	0.66863	.	0.888027	0.10041	N	0.723492	T	0.41789	0.1174	M	0.65975	2.015	0.18873	N	0.999982	P;D;D;P	0.58268	0.898;0.97;0.982;0.783	P;P;P;B	0.55999	0.698;0.62;0.789;0.435	T	0.30851	-0.9964	10	0.48119	T	0.1	-2.6387	15.4994	0.75684	0.0:0.8623:0.1377:0.0	.	530;926;926;812	Q9BXT4-4;Q9BXT4;Q9BXT4-3;Q9BXT4-2	.;TDRD1_HUMAN;.;.	C	926;926;812;530;926	ENSP00000358288:S926C;ENSP00000251864:S926C;ENSP00000358287:S812C;ENSP00000402794:S530C;ENSP00000358286:S926C	ENSP00000251864:S926C	S	+	2	0	TDRD1	115971112	0.001000	0.12720	0.779000	0.31741	0.131000	0.20780	0.774000	0.26675	1.487000	0.48415	-0.182000	0.12963	TCT	TDRD1	-	NULL	ENSG00000095627		0.343	TDRD1-001	KNOWN	basic	protein_coding	TDRD1	HGNC	protein_coding	OTTHUMT00000050457.2	136	0.00	0	C			115981122	115981122	+1	no_errors	ENST00000251864	ensembl	human	known	69_37n	missense	165	20.29	42	SNP	0.614	G
TMEM132D	121256	genome.wustl.edu	37	12	129566471	129566471	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0BR-01A-21W-A12T-09	TCGA-BH-A0BR-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	df82226e-2242-418b-9f5f-0a5e531826a4	9a94cf94-c89a-4460-83de-0574acf85969	g.chr12:129566471C>T	ENST00000422113.2	-	7	2082	c.1756G>A	c.(1756-1758)Gag>Aag	p.E586K	TMEM132D_ENST00000389441.4_Missense_Mutation_p.E124K	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	586					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CCGGCCGCCTCAGCCACAAAC	0.652																																						dbGAP											0													39.0	43.0	41.0					12																	129566471		2203	4299	6502	-	-	-	SO:0001583	missense	0			AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.1756G>A	12.37:g.129566471C>T	ENSP00000408581:p.Glu586Lys		Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	NULL	p.E586K	ENST00000422113.2	37	c.1756	CCDS9266.1	12	.	.	.	.	.	.	.	.	.	.	C	26.3	4.720375	0.89205	.	.	ENSG00000151952	ENST00000389441;ENST00000422113	T;T	0.13420	2.59;2.59	4.72	4.72	0.59763	.	0.000000	0.64402	D	0.000002	T	0.44159	0.1280	M	0.87180	2.865	0.80722	D	1	D;D	0.89917	1.0;0.971	D;P	0.76575	0.988;0.757	T	0.52961	-0.8505	9	.	.	.	-46.3619	17.6741	0.88225	0.0:1.0:0.0:0.0	.	586;124	Q14C87;Q14C87-2	T132D_HUMAN;.	K	124;586	ENSP00000374092:E124K;ENSP00000408581:E586K	.	E	-	1	0	TMEM132D	128132424	1.000000	0.71417	0.406000	0.26421	0.632000	0.37999	7.625000	0.83145	2.149000	0.67028	0.561000	0.74099	GAG	TMEM132D	-	NULL	ENSG00000151952		0.652	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM132D	HGNC	protein_coding	OTTHUMT00000399592.1	23	0.00	0	C	NM_133448		129566471	129566471	-1	no_errors	ENST00000422113	ensembl	human	known	69_37n	missense	38	28.30	15	SNP	0.976	T
TMEM151B	441151	genome.wustl.edu	37	6	44243324	44243324	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0BR-01A-21W-A12T-09	TCGA-BH-A0BR-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	df82226e-2242-418b-9f5f-0a5e531826a4	9a94cf94-c89a-4460-83de-0574acf85969	g.chr6:44243324C>T	ENST00000451188.2	+	3	1038	c.761C>T	c.(760-762)gCg>gTg	p.A254V	TMEM151B_ENST00000438774.2_Intron|RP11-444E17.6_ENST00000505802.1_Intron	NM_001137560.1	NP_001131032.1	Q8IW70	T151B_HUMAN	transmembrane protein 151B	254						integral component of membrane (GO:0016021)		p.A254V(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)	6						TGCCAGCGCGCGCGCTTCTTC	0.652																																						dbGAP											1	Substitution - Missense(1)	endometrium(1)											77.0	84.0	82.0					6																	44243324		692	1591	2283	-	-	-	SO:0001583	missense	0			AK126839	CCDS47437.1	6p21.1	2009-04-17	2007-10-25	2007-10-25	ENSG00000178233	ENSG00000178233			21315	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 137"", ""transmembrane protein 193"""	C6orf137, TMEM193			Standard	NM_001137560		Approved	bA444E17.5	uc003oxh.2	Q8IW70	OTTHUMG00000014765	ENST00000451188.2:c.761C>T	6.37:g.44243324C>T	ENSP00000393161:p.Ala254Val		Q5T9V7	Missense_Mutation	SNP	NULL	p.A254V	ENST00000451188.2	37	c.761	CCDS47437.1	6	.	.	.	.	.	.	.	.	.	.	C	33	5.204619	0.95033	.	.	ENSG00000178233	ENST00000451188	.	.	.	4.74	4.74	0.60224	.	0.000000	0.85682	D	0.000000	T	0.73837	0.3638	M	0.80847	2.515	0.80722	D	1	D	0.69078	0.997	P	0.59056	0.851	T	0.78476	-0.2189	9	0.87932	D	0	.	18.2611	0.90035	0.0:1.0:0.0:0.0	.	254	Q8IW70	T151B_HUMAN	V	254	.	ENSP00000393161:A254V	A	+	2	0	TMEM151B	44351302	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.550000	0.82173	2.603000	0.88011	0.462000	0.41574	GCG	TMEM151B	-	NULL	ENSG00000178233		0.652	TMEM151B-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	TMEM151B	HGNC	protein_coding	OTTHUMT00000040740.2	28	0.00	0	C	NM_001039704		44243324	44243324	+1	no_errors	ENST00000451188	ensembl	human	known	69_37n	missense	23	25.81	8	SNP	1.000	T
TP53	7157	genome.wustl.edu	37	17	7577118	7577118	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A0BR-01A-21W-A12T-09	TCGA-BH-A0BR-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	df82226e-2242-418b-9f5f-0a5e531826a4	9a94cf94-c89a-4460-83de-0574acf85969	g.chr17:7577118C>A	ENST00000269305.4	-	8	1009	c.820G>T	c.(820-822)Gtt>Ttt	p.V274F	TP53_ENST00000359597.4_Missense_Mutation_p.V274F|TP53_ENST00000420246.2_Missense_Mutation_p.V274F|TP53_ENST00000455263.2_Missense_Mutation_p.V274F|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.V274F|TP53_ENST00000413465.2_Intron	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	274	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		V -> A (in sporadic cancers; somatic mutation).|V -> D (in sporadic cancers; somatic mutation).|V -> F (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> I (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; 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.V274F(21)|p.V274L(11)|p.0?(8)|p.V274I(4)|p.?(2)|p.R273_C275delRVC(1)|p.V274fs*71(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.V274_P278del(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.V272_K292del21(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)	CAGGCACAAACACGCACCTCA	0.552		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	54	Substitution - Missense(36)|Whole gene deletion(8)|Deletion - In frame(5)|Deletion - Frameshift(3)|Unknown(2)	large_intestine(9)|breast(7)|upper_aerodigestive_tract(6)|ovary(4)|prostate(4)|bone(4)|central_nervous_system(3)|urinary_tract(3)|lung(3)|oesophagus(3)|haematopoietic_and_lymphoid_tissue(2)|skin(2)|adrenal_gland(1)|stomach(1)|soft_tissue(1)|liver(1)											69.0	60.0	63.0					17																	7577118		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.820G>T	17.37:g.7577118C>A	ENSP00000269305:p.Val274Phe		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.V274F	ENST00000269305.4	37	c.820	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	13.32	2.201113	0.38905	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99832	-7.02;-7.02;-7.02;-7.02;-7.02;-7.02	4.92	-0.763	0.11030	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.312804	0.33382	N	0.004980	D	0.99670	0.9877	M	0.87456	2.885	0.38916	D	0.957632	B;D;B;B	0.56746	0.434;0.977;0.209;0.125	B;P;P;B	0.61477	0.373;0.889;0.561;0.389	D	0.99218	1.0878	10	0.87932	D	0	-10.2267	9.2232	0.37390	0.0:0.5803:0.0:0.4197	.	274;274;274;274	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	F	274;274;274;274;274;263;142	ENSP00000352610:V274F;ENSP00000269305:V274F;ENSP00000398846:V274F;ENSP00000391127:V274F;ENSP00000391478:V274F;ENSP00000425104:V142F	ENSP00000269305:V274F	V	-	1	0	TP53	7517843	0.002000	0.14202	0.148000	0.22405	0.724000	0.41520	-0.002000	0.12924	-0.004000	0.14419	0.462000	0.41574	GTT	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	123	0.00	0	C	NM_000546		7577118	7577118	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	missense	212	35.95	119	SNP	0.074	A
TRDN	10345	genome.wustl.edu	37	6	123869608	123869608	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A0BR-01A-21W-A12T-09	TCGA-BH-A0BR-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	df82226e-2242-418b-9f5f-0a5e531826a4	9a94cf94-c89a-4460-83de-0574acf85969	g.chr6:123869608T>C	ENST00000398178.3	-	3	403	c.382A>G	c.(382-384)Act>Gct	p.T128A	TRDN_ENST00000334268.4_Missense_Mutation_p.T128A|TRDN_ENST00000542443.1_Missense_Mutation_p.T128A|TRDN_ENST00000546248.1_Missense_Mutation_p.T128A	NM_006073.3	NP_006064.2	Q13061	TRDN_HUMAN	triadin	128			T -> S (in dbSNP:rs9490809). {ECO:0000269|PubMed:15489334}.		cellular calcium ion homeostasis (GO:0006874)|cytoplasmic microtubule organization (GO:0031122)|endoplasmic reticulum membrane organization (GO:0090158)|heart contraction (GO:0060047)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|myotube differentiation (GO:0014902)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|positive regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901846)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to organic cyclic compound (GO:0014070)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		CCTTTATCAGTATCTTCGTCA	0.368																																						dbGAP											0													59.0	56.0	57.0					6																	123869608		1879	4110	5989	-	-	-	SO:0001583	missense	0			U18985	CCDS59035.1, CCDS75511.1	6q22.31	2008-05-15			ENSG00000186439	ENSG00000186439			12261	protein-coding gene	gene with protein product		603283				7588753	Standard	NM_001251987		Approved		uc003pzj.2	Q13061	OTTHUMG00000015497	ENST00000398178.3:c.382A>G	6.37:g.123869608T>C	ENSP00000381240:p.Thr128Ala		A5D6W5|F5H2W7|Q6NSB8	Missense_Mutation	SNP	pfam_Asp-B-hydro/Triadin_dom	p.T128A	ENST00000398178.3	37	c.382	CCDS55053.1	6	.	.	.	.	.	.	.	.	.	.	T	0.131	-1.113375	0.01799	.	.	ENSG00000186439	ENST00000398178;ENST00000398161;ENST00000334268;ENST00000542014;ENST00000543022;ENST00000546248;ENST00000333613;ENST00000542443;ENST00000265491	T;T;T;T	0.63096	0.6;0.6;0.6;-0.02	5.05	2.62	0.31277	Aspartyl beta-hydroxylase/Triadin domain (1);	1.405680	0.04389	N	0.362083	T	0.38983	0.1061	L	0.56769	1.78	0.09310	N	0.999999	B;P;B;B;B	0.37548	0.015;0.599;0.245;0.245;0.245	B;B;B;B;B	0.37888	0.022;0.26;0.098;0.098;0.138	T	0.29150	-1.0021	10	0.34782	T	0.22	1.6996	6.5322	0.22334	0.0:0.08:0.1562:0.7637	.	128;128;128;128;128	F5H6E3;F5H2W7;Q5SWK9;Q8IVK2;Q13061	.;.;.;.;TRDN_HUMAN	A	128;128;128;128;128;128;33;128;33	ENSP00000381240:T128A;ENSP00000333984:T128A;ENSP00000439281:T128A;ENSP00000437684:T128A	ENSP00000265491:T33A	T	-	1	0	TRDN	123911307	0.901000	0.30685	0.179000	0.23059	0.038000	0.13279	0.871000	0.28023	0.254000	0.21573	0.523000	0.50628	ACT	TRDN	-	pfam_Asp-B-hydro/Triadin_dom	ENSG00000186439		0.368	TRDN-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRDN	HGNC	protein_coding		129	0.00	0	T			123869608	123869608	-1	no_errors	ENST00000398178	ensembl	human	known	69_37n	missense	124	50.60	127	SNP	0.882	C
TRIM49C	642612	genome.wustl.edu	37	11	89774444	89774444	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0BR-01A-21W-A12T-09	TCGA-BH-A0BR-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	df82226e-2242-418b-9f5f-0a5e531826a4	9a94cf94-c89a-4460-83de-0574acf85969	g.chr11:89774444G>A	ENST00000448984.1	+	8	1414	c.1085G>A	c.(1084-1086)cGg>cAg	p.R362Q	TRIM49C_ENST00000432771.1_Intron	NM_001195234.1	NP_001182163.1	P0CI26	TR49C_HUMAN	tripartite motif containing 49C	362	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|lung(4)	8						AATATGTATCGGAAGGAGAAG	0.448																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			BC126470	CCDS53694.1	11q14.3	2014-02-17	2012-05-18	2012-05-18	ENSG00000204449	ENSG00000204449		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	38877	protein-coding gene	gene with protein product			"""tripartite motif containing 49-like 2"""	TRIM49L2			Standard	NM_001195234		Approved		uc010rua.2	P0CI26		ENST00000448984.1:c.1085G>A	11.37:g.89774444G>A	ENSP00000388299:p.Arg362Gln		A0AVR7|A0AVR9|Q6DJV1|Q9NS80	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl,superfamily_Lambda_DNA-bd_dom,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.R362Q	ENST00000448984.1	37	c.1085	CCDS53694.1	11	.	.	.	.	.	.	.	.	.	.	G	5.692	0.312260	0.10789	.	.	ENSG00000204449	ENST00000448984	T	0.60920	0.15	0.823	0.823	0.18812	Concanavalin A-like lectin/glucanase (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	T	0.41305	0.1153	L	0.36672	1.1	0.09310	N	1	B	0.15141	0.012	B	0.17098	0.017	T	0.23976	-1.0173	8	.	.	.	.	4.9575	0.14050	0.0:0.0:1.0:0.0	.	362	P0CI26	T49L2_HUMAN	Q	362	ENSP00000388299:R362Q	.	R	+	2	0	TRIM49L2	89414092	0.000000	0.05858	0.002000	0.10522	0.003000	0.03518	0.026000	0.13599	0.742000	0.32697	0.305000	0.20034	CGG	TRIM49C	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin	ENSG00000204449		0.448	TRIM49C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIM49C	HGNC	protein_coding	OTTHUMT00000395455.1	112	0.00	0	G	NM_001195234		89774444	89774444	+1	no_errors	ENST00000448984	ensembl	human	known	69_37n	missense	275	17.42	58	SNP	0.013	A
TSHR	7253	genome.wustl.edu	37	14	81610007	81610007	+	Silent	SNP	C	C	T			TCGA-BH-A0BR-01A-21W-A12T-09	TCGA-BH-A0BR-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	df82226e-2242-418b-9f5f-0a5e531826a4	9a94cf94-c89a-4460-83de-0574acf85969	g.chr14:81610007C>T	ENST00000541158.2	+	11	1927	c.1605C>T	c.(1603-1605)ctC>ctT	p.L535L	TSHR_ENST00000298171.2_Silent_p.L535L|RP11-114N19.3_ENST00000557775.1_RNA			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	535					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adult locomotory behavior (GO:0008344)|B cell differentiation (GO:0030183)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of locomotion (GO:0040012)|thyroid-stimulating hormone signaling pathway (GO:0038194)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	thyroid-stimulating hormone receptor activity (GO:0004996)			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	AGATCCGCCTCAGGCACGCAT	0.557			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism																															dbGAP	yes	Dom	yes		14	14q31	7253	thyroid stimulating hormone receptor	yes	E	0													472.0	318.0	370.0					14																	81610007		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY429111	CCDS9872.1, CCDS32131.1, CCDS55935.1	14q24-q31	2014-09-17			ENSG00000165409	ENSG00000165409		"""GPCR / Class A : Gonadotropin and TSH receptors"""	12373	protein-coding gene	gene with protein product		603372				2558651, 2610690	Standard	NM_001018036		Approved	LGR3	uc001xvd.1	P16473		ENST00000541158.2:c.1605C>T	14.37:g.81610007C>T			A0PJU7|F5GYU5|G3V2A9|Q16503|Q8TB90|Q96GT6|Q9P1V4|Q9ULA3|Q9UPH3	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_TSH_rcpt,prints_Gphrmn_rcpt,prints_7TM_GPCR_Rhodpsn,prints_FSH_rcpt,prints_LSH_rcpt	p.L535	ENST00000541158.2	37	c.1605	CCDS9872.1	14																																																																																			TSHR	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000165409		0.557	TSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSHR	HGNC	protein_coding	OTTHUMT00000413364.1	498	0.00	0	C	NM_000369		81610007	81610007	+1	no_errors	ENST00000298171	ensembl	human	known	69_37n	silent	1235	27.40	466	SNP	0.619	T
UCP1	7350	genome.wustl.edu	37	4	141484632	141484632	+	Silent	SNP	C	C	T	rs538491644	byFrequency	TCGA-BH-A0BR-01A-21W-A12T-09	TCGA-BH-A0BR-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	df82226e-2242-418b-9f5f-0a5e531826a4	9a94cf94-c89a-4460-83de-0574acf85969	g.chr4:141484632C>T	ENST00000262999.3	-	3	441	c.366G>A	c.(364-366)acG>acA	p.T122T		NM_021833.4	NP_068605.1	P25874	UCP1_HUMAN	uncoupling protein 1 (mitochondrial, proton carrier)	122					brown fat cell differentiation (GO:0050873)|cellular metabolic process (GO:0044237)|mitochondrial transport (GO:0006839)|proton transport (GO:0015992)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	oxidative phosphorylation uncoupler activity (GO:0017077)			NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|stomach(1)	16	all_hematologic(180;0.162)					CTCCTCCAGTCGTTAGACCAG	0.433													C|||	5	0.000998403	0.0	0.0	5008	,	,		15985	0.0		0.0	False		,,,				2504	0.0051					dbGAP											0													98.0	87.0	91.0					4																	141484632		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X51955	CCDS3753.1	4q28-q31	2013-05-22			ENSG00000109424	ENSG00000109424		"""Solute carriers"""	12517	protein-coding gene	gene with protein product		113730		UCP		2380264	Standard	NM_021833		Approved	SLC25A7	uc011chj.2	P25874	OTTHUMG00000133415	ENST00000262999.3:c.366G>A	4.37:g.141484632C>T			Q13218|Q4KMZ3|Q68G66	Silent	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_uncoupling	p.T122	ENST00000262999.3	37	c.366	CCDS3753.1	4																																																																																			UCP1	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	ENSG00000109424		0.433	UCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UCP1	HGNC	protein_coding	OTTHUMT00000257273.1	126	0.00	0	C			141484632	141484632	-1	no_errors	ENST00000262999	ensembl	human	known	69_37n	silent	177	35.16	96	SNP	0.096	T
WIPI1	55062	genome.wustl.edu	37	17	66430737	66430737	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0BR-01A-21W-A12T-09	TCGA-BH-A0BR-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	df82226e-2242-418b-9f5f-0a5e531826a4	9a94cf94-c89a-4460-83de-0574acf85969	g.chr17:66430737C>T	ENST00000262139.5	-	7	651	c.652G>A	c.(652-654)Gat>Aat	p.D218N	WIPI1_ENST00000546360.1_Missense_Mutation_p.D136N|WIPI1_ENST00000589459.1_5'UTR	NM_017983.5	NP_060453.3	Q5MNZ9	WIPI1_HUMAN	WD repeat domain, phosphoinositide interacting 1	218					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|autophagy (GO:0006914)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|vesicle targeting, trans-Golgi to endosome (GO:0048203)	autophagic vacuole membrane (GO:0000421)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|pre-autophagosomal structure (GO:0000407)|pre-autophagosomal structure membrane (GO:0034045)|trans-Golgi network (GO:0005802)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|receptor binding (GO:0005102)	p.D218N(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	18						TTTTGCCCATCAGGGACAGAG	0.498																																						dbGAP											2	Substitution - Missense(2)	lung(2)											88.0	86.0	86.0					17																	66430737		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS11677.1	17q24.2	2014-02-12				ENSG00000070540		"""WD repeat domain containing"""	25471	protein-coding gene	gene with protein product		609224				15020712, 15602573	Standard	NM_017983		Approved	FLJ10055, WIPI49, Atg18, ATG18A	uc010dey.3	Q5MNZ9		ENST00000262139.5:c.652G>A	17.37:g.66430737C>T	ENSP00000262139:p.Asp218Asn		Q8IXM5|Q9NWF8	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat	p.D218N	ENST00000262139.5	37	c.652	CCDS11677.1	17	.	.	.	.	.	.	.	.	.	.	C	14.87	2.665418	0.47677	.	.	ENSG00000070540	ENST00000262139;ENST00000546360	T;T	0.50277	0.75;2.31	5.32	5.32	0.75619	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.384922	0.29087	N	0.013194	T	0.39517	0.1081	L	0.28694	0.88	0.46478	D	0.99906	B	0.06786	0.001	B	0.08055	0.003	T	0.12192	-1.0557	10	0.27082	T	0.32	-4.065	19.0599	0.93085	0.0:1.0:0.0:0.0	.	218	Q5MNZ9	WIPI1_HUMAN	N	218;136	ENSP00000262139:D218N;ENSP00000437345:D136N	ENSP00000262139:D218N	D	-	1	0	WIPI1	63942332	1.000000	0.71417	0.342000	0.25602	0.896000	0.52359	7.326000	0.79133	2.505000	0.84491	0.485000	0.47835	GAT	WIPI1	-	superfamily_WD40_repeat_dom,smart_WD40_repeat	ENSG00000070540		0.498	WIPI1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	WIPI1	HGNC	protein_coding	OTTHUMT00000448739.1	167	0.00	0	C	NM_017983		66430737	66430737	-1	no_errors	ENST00000262139	ensembl	human	known	69_37n	missense	126	31.89	59	SNP	0.999	T
XIRP2	129446	genome.wustl.edu	37	2	168099578	168099578	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0BR-01A-21W-A12T-09	TCGA-BH-A0BR-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	df82226e-2242-418b-9f5f-0a5e531826a4	9a94cf94-c89a-4460-83de-0574acf85969	g.chr2:168099578C>T	ENST00000409195.1	+	9	1765	c.1676C>T	c.(1675-1677)tCa>tTa	p.S559L	XIRP2_ENST00000409273.1_Missense_Mutation_p.S337L|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.S559L|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	384					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GATCTGAACTCAGAAAGAGAA	0.408																																						dbGAP											0													47.0	45.0	46.0					2																	168099578		1839	4088	5927	-	-	-	SO:0001583	missense	0			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.1676C>T	2.37:g.168099578C>T	ENSP00000386840:p.Ser559Leu		A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	pfam_Actin-binding_Xin_repeat,superfamily_FH2_actin-bd	p.S559L	ENST00000409195.1	37	c.1676	CCDS42769.1	2	.	.	.	.	.	.	.	.	.	.	C	17.66	3.445712	0.63178	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.02709	4.19;4.19;4.19	5.54	5.54	0.83059	.	0.149128	0.43416	D	0.000579	T	0.03220	0.0094	N	0.22421	0.69	0.40619	D	0.981747	P;P;P	0.42296	0.483;0.775;0.617	B;B;B	0.36666	0.058;0.23;0.178	T	0.57458	-0.7808	10	0.52906	T	0.07	-5.9583	19.0979	0.93260	0.0:1.0:0.0:0.0	.	384;384;337	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	L	559;559;337	ENSP00000386840:S559L;ENSP00000295237:S559L;ENSP00000387255:S337L	ENSP00000295237:S559L	S	+	2	0	XIRP2	167807824	0.963000	0.33076	0.970000	0.41538	0.992000	0.81027	2.999000	0.49473	2.615000	0.88500	0.655000	0.94253	TCA	XIRP2	-	NULL	ENSG00000163092		0.408	XIRP2-001	KNOWN	basic|CCDS	protein_coding	XIRP2	HGNC	protein_coding	OTTHUMT00000333547.1	39	0.00	0	C	NM_152381		168099578	168099578	+1	no_errors	ENST00000295237	ensembl	human	known	69_37n	missense	45	18.18	10	SNP	0.996	T
ZNF362	149076	genome.wustl.edu	37	1	33745932	33745933	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BH-A0BR-01A-21W-A12T-09	TCGA-BH-A0BR-10A-01D-A110-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	df82226e-2242-418b-9f5f-0a5e531826a4	9a94cf94-c89a-4460-83de-0574acf85969	g.chr1:33745932_33745933insC	ENST00000539719.1	+	5	727_728	c.557_558insC	c.(556-561)ggccccfs	p.GP186fs	ZNF362_ENST00000373428.5_Frame_Shift_Ins_p.GP186fs	NM_152493.2	NP_689706.2	Q5T0B9	ZN362_HUMAN	zinc finger protein 362	186					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(1)|large_intestine(4)|lung(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GGCCTGCTTGGCCCCCCCAAGT	0.658																																					Pancreas(162;1431 2676 35353 38425)	dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS377.1	1p35.1	2013-01-08			ENSG00000160094	ENSG00000160094		"""Zinc fingers, C2H2-type"""	18079	protein-coding gene	gene with protein product	"""rotund homolog (Drosophila)"""						Standard	NM_152493		Approved	FLJ25476, lin-29, RN	uc001bxc.1	Q5T0B9	OTTHUMG00000004124	ENST00000539719.1:c.564dupC	1.37:g.33745939_33745939dupC	ENSP00000446335:p.Gly186fs		Q8WYU4	Frame_Shift_Ins	INS	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.K189fs	ENST00000539719.1	37	c.557_558	CCDS377.1	1																																																																																			ZNF362	-	NULL	ENSG00000160094		0.658	ZNF362-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF362	HGNC	protein_coding	OTTHUMT00000011857.2	32	0.00	0	-	NM_152493		33745932	33745933	+1	no_errors	ENST00000373428	ensembl	human	known	69_37n	frame_shift_ins	34	12.82	5	INS	1.000:1.000	C
ZBTB18	10472	genome.wustl.edu	37	1	244218261	244218261	+	Silent	SNP	G	G	A			TCGA-BH-A0BR-01A-21W-A12T-09	TCGA-BH-A0BR-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	df82226e-2242-418b-9f5f-0a5e531826a4	9a94cf94-c89a-4460-83de-0574acf85969	g.chr1:244218261G>A	ENST00000358704.4	+	2	1334	c.1185G>A	c.(1183-1185)caG>caA	p.Q395Q		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	386	Interaction with DNMT3A.				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)										ACATCCTGCAGATCCACCTGA	0.637																																						dbGAP											0													56.0	54.0	55.0					1																	244218261		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			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.1185G>A	1.37:g.244218261G>A			A8K5U3|Q13397|Q5VU40|Q8N463|Q9UD99	Silent	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.Q395	ENST00000358704.4	37	c.1185	CCDS1622.1	1																																																																																			ZNF238	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000179456		0.637	ZBTB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF238	HGNC	protein_coding	OTTHUMT00000096513.2	34	0.00	0	G	NM_205768		244218261	244218261	+1	no_errors	ENST00000358704	ensembl	human	known	69_37n	silent	67	26.37	24	SNP	1.000	A
