#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_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_Chromosome_hg18	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_End_position_hg18	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_Start_position_hg18	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_deletion_substructures	i_domain	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
Unknown	0	genome.wustl.edu	37	Unknown	0	0	+	IGR	SNP	C	C	T			TCGA-36-2537-01A-01D-1526-09	TCGA-36-2537-10A-01D-1526-09	C	C					Unknown	Invalid:failed_liftOver	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dabd603f-bcd1-4976-a833-eec6a04af2ca	31ced69f-393b-451f-b853-95f7316fbbc7	g.chrUnknown:0C>T								None (None upstream) : None (None downstream)																								0.0																																																0			MT																																								13650	SO:0001628	intergenic_variant	4540																															Unknown.37:g.0C>T			13650		Missense_Mutation	SNP	HMMPfam_Oxidored_q1_N,HMMPfam_Oxidored_q1,HMMPfam_NADH5_C	p.P438L		37	c.1313		MT																																																																																			-	HMMPfam_NADH5_C	0	0					MT-ND5			C			13650	+1	no_errors	ENST00000361567	ensembl	human	known	54_36p	missense	SNP	NULL	T
MFSD7	84179	genome.wustl.edu	37	4	678391	678391	+	Splice_Site	SNP	G	G	C			TCGA-36-2537-01A-01D-1526-09	TCGA-36-2537-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dabd603f-bcd1-4976-a833-eec6a04af2ca	31ced69f-393b-451f-b853-95f7316fbbc7	g.chr4:678391G>C	ENST00000404286.2	-	6	739	c.724C>G	c.(724-726)Cag>Gag	p.Q242E	MFSD7_ENST00000347950.5_Splice_Site_p.Q123E|MFSD7_ENST00000515118.1_Splice_Site_p.Q145E|MFSD7_ENST00000503156.1_Intron|MFSD7_ENST00000322224.4_Intron|MFSD7_ENST00000513740.1_5'Flank	NM_032219.2	NP_115595.2	Q6UXD7	MFSD7_HUMAN	major facilitator superfamily domain containing 7	242					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				cervix(1)|kidney(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	11						CACATGAGCTGCTGGGAAAGA	0.637											OREG0016025	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0			4											85.0	88.0	87.0					4																	678391		2203	4300	6503	668391	SO:0001630	splice_region_variant	84179			AK025922	CCDS3338.1, CCDS75086.1	4p16.3	2013-05-22			ENSG00000169026	ENSG00000169026		"""Solute carriers"""	26177	protein-coding gene	gene with protein product						12975309	Standard	XM_005272295		Approved	FLJ22269, LP2561	uc003gax.3	Q6UXD7	OTTHUMG00000119001	ENST00000404286.2:c.724-1C>G	4.37:g.678391G>C		590	668391	A8K7J5|Q6XYD4|Q8N6H1|Q9H6H6	Missense_Mutation	SNP	superfamily_MFS general substrate transporter,HMMPfam_MFS_1	p.Q242E	ENST00000404286.2	37	c.724		4	.	.	.	.	.	.	.	.	.	.	g	0.296	-0.976721	0.02215	.	.	ENSG00000169026	ENST00000347950;ENST00000404286;ENST00000515118;ENST00000507165	D;T;D;T	0.95001	-3.27;0.46;-3.58;0.46	5.24	0.456	0.16655	Major facilitator superfamily domain, general substrate transporter (1);	.	.	.	.	D	0.87811	0.6271	.	.	.	0.47905	D	0.999548	B;B;B	0.31910	0.346;0.346;0.271	B;B;B	0.36335	0.142;0.142;0.222	T	0.74962	-0.3485	8	0.14656	T	0.56	.	4.1052	0.10033	0.3486:0.0:0.4992:0.1523	.	145;123;242	D6R9R0;Q6UXD7-3;Q6UXD7	.;.;MFSD7_HUMAN	E	123;242;145;178	ENSP00000307545:Q123E;ENSP00000384616:Q242E;ENSP00000423204:Q145E;ENSP00000424556:Q178E	ENSP00000307545:Q123E	Q	-	1	0	MFSD7	668391	0.726000	0.28059	0.002000	0.10522	0.005000	0.04900	0.829000	0.27449	-0.255000	0.09486	-0.449000	0.05564	CAG	-	superfamily_MFS general substrate transporter,HMMPfam_MFS_1		0.637	MFSD7-004	KNOWN	basic|appris_candidate_longest	protein_coding	MFSD7	protein_coding	OTTHUMT00000358585.1	G	NM_032219	Missense_Mutation	668391	-1	no_errors	ENST00000404286	ensembl	human	known	54_36p	missense	SNP	0.380	C
DCHS1	8642	genome.wustl.edu	37	11	6662540	6662540	+	Missense_Mutation	SNP	C	C	T	rs147257039		TCGA-36-2537-01A-01D-1526-09	TCGA-36-2537-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dabd603f-bcd1-4976-a833-eec6a04af2ca	31ced69f-393b-451f-b853-95f7316fbbc7	g.chr11:6662540C>T	ENST00000299441.3	-	2	716	c.305G>A	c.(304-306)cGt>cAt	p.R102H		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	102	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACGGGCTGTACGGACGACCCC	0.622													C|||	1	0.000199681	0.0	0.0	5008	,	,		19892	0.0		0.0	False		,,,				2504	0.001															0			11						C	HIS/ARG	1,4401	2.1+/-5.4	0,1,2200	71.0	60.0	64.0		305	5.4	1.0	11	dbSNP_134	64	0,8592		0,0,4296	no	missense	DCHS1	NM_003737.2	29	0,1,6496	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	102/3299	6662540	1,12993	2201	4296	6497	6619116	SO:0001583	missense	8642			AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.305G>A	11.37:g.6662540C>T	ENSP00000299441:p.Arg102His		6619116	O15098	Missense_Mutation	SNP	superfamily_Cadherin,HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1	p.R102H	ENST00000299441.3	37	c.305	CCDS7771.1	11	.	.	.	.	.	.	.	.	.	.	C	16.77	3.215965	0.58452	2.27E-4	0.0	ENSG00000166341	ENST00000299441	T	0.39406	1.08	5.41	5.41	0.78517	Cadherin (4);Cadherin-like (1);	0.146090	0.31976	N	0.006768	T	0.34221	0.0890	L	0.46885	1.475	0.29983	N	0.817539	D	0.56746	0.977	B	0.43251	0.413	T	0.38134	-0.9675	10	0.30078	T	0.28	.	7.9456	0.29985	0.0:0.8243:0.0:0.1757	.	102	Q96JQ0	PCD16_HUMAN	H	102	ENSP00000299441:R102H	ENSP00000299441:R102H	R	-	2	0	DCHS1	6619116	0.998000	0.40836	1.000000	0.80357	0.976000	0.68499	3.246000	0.51414	2.536000	0.85505	0.643000	0.83706	CGT	-	superfamily_Cadherin,HMMPfam_Cadherin,HMMSmart_CA		0.622	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS1	protein_coding	OTTHUMT00000257258.1	C	NM_003737		6619116	-1	no_errors	NM_003737	genbank	human	reviewed	54_36p	missense	SNP	0.993	T
TP53	7157	genome.wustl.edu	37	17	7578517	7578517	+	Missense_Mutation	SNP	G	G	A			TCGA-36-2537-01A-01D-1526-09	TCGA-36-2537-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dabd603f-bcd1-4976-a833-eec6a04af2ca	31ced69f-393b-451f-b853-95f7316fbbc7	g.chr17:7578517G>A	ENST00000269305.4	-	5	602	c.413C>T	c.(412-414)gCc>gTc	p.A138V	TP53_ENST00000413465.2_Missense_Mutation_p.A138V|TP53_ENST00000445888.2_Missense_Mutation_p.A138V|TP53_ENST00000420246.2_Missense_Mutation_p.A138V|TP53_ENST00000455263.2_Missense_Mutation_p.A138V|TP53_ENST00000359597.4_Missense_Mutation_p.A138V|TP53_ENST00000574684.1_5'Flank	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	138	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		A -> D (in sporadic cancers; somatic mutation).|A -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934875).|A -> S (in LFS; germline mutation).|A -> T (in sporadic cancers; somatic mutation).|A -> V (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.		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.A138V(20)|p.0?(8)|p.A138_P142delAKTCP(4)|p.C135fs*9(3)|p.N131fs*27(2)|p.A138fs*31(1)|p.L137_W146del10(1)|p.K139fs*4(1)|p.F134_T140>S(1)|p.A45_P49delAKTCP(1)|p.V73fs*9(1)|p.K132_A138delKMFCQLA(1)|p.A138_V143delAKTCPV(1)|p.A6_P10delAKTCP(1)|p.C3fs*9(1)|p.A138del(1)|p.C42fs*9(1)|p.A6V(1)|p.C135_A138delCQLA(1)|p.Q136_K139delQLAK(1)|p.C135_T140delCQLAKT(1)|p.A45V(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)	GCAGGTCTTGGCCAGTTGGCA	0.567		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	54	Substitution - Missense(22)|Deletion - In frame(13)|Deletion - Frameshift(10)|Whole gene deletion(8)|Complex - deletion inframe(1)	large_intestine(9)|ovary(7)|haematopoietic_and_lymphoid_tissue(6)|urinary_tract(6)|breast(6)|stomach(4)|lung(4)|bone(4)|central_nervous_system(3)|soft_tissue(1)|endometrium(1)|skin(1)|oesophagus(1)|liver(1)	17											54.0	54.0	54.0					17																	7578517		2203	4300	6503	7519242	SO:0001583	missense	7157	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.413C>T	17.37:g.7578517G>A	ENSP00000269305:p.Ala138Val		7519242	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	HMMPfam_P53_TAD,HMMPfam_P53,superfamily_p53-like transcription factors,PatternScan_P53,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain	p.A138V	ENST00000269305.4	37	c.413	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	20.9	4.067507	0.76301	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99859	-7.23;-7.23;-7.23;-7.23;-7.23;-7.23;-7.23;-7.23;-7.23	5.48	5.48	0.80851	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99819	0.9920	M	0.70595	2.14	0.58432	D	0.999998	P;P;D;P;D;D;D	0.89917	0.821;0.952;0.981;0.886;0.984;0.98;1.0	P;P;P;B;P;P;D	0.91635	0.528;0.716;0.646;0.328;0.813;0.771;0.999	D	0.96765	0.9564	10	0.87932	D	0	-15.6629	17.2272	0.86973	0.0:0.0:1.0:0.0	.	99;138;138;45;138;138;138	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	V	138;138;138;138;138;138;127;45;6;45;6;138	ENSP00000410739:A138V;ENSP00000352610:A138V;ENSP00000269305:A138V;ENSP00000398846:A138V;ENSP00000391127:A138V;ENSP00000391478:A138V;ENSP00000425104:A6V;ENSP00000423862:A45V;ENSP00000424104:A138V	ENSP00000269305:A138V	A	-	2	0	TP53	7519242	1.000000	0.71417	0.989000	0.46669	0.377000	0.30045	5.601000	0.67606	2.733000	0.93635	0.655000	0.94253	GCC	-	HMMPfam_P53,superfamily_p53-like transcription factors		0.567	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	G	NM_000546		7519242	-1	no_errors	NM_000546	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
PLCB4	5332	genome.wustl.edu	37	20	9376218	9376218	+	Missense_Mutation	SNP	C	C	T			TCGA-36-2537-01A-01D-1526-09	TCGA-36-2537-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dabd603f-bcd1-4976-a833-eec6a04af2ca	31ced69f-393b-451f-b853-95f7316fbbc7	g.chr20:9376218C>T	ENST00000378493.1	+	16	1478	c.1463C>T	c.(1462-1464)tCc>tTc	p.S488F	PLCB4_ENST00000378501.2_Missense_Mutation_p.S488F|PLCB4_ENST00000414679.2_Missense_Mutation_p.S488F|PLCB4_ENST00000378473.3_Missense_Mutation_p.S488F|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000278655.4_Missense_Mutation_p.S488F|PLCB4_ENST00000334005.3_Missense_Mutation_p.S488F			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	488					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						GAATCTGCCTCCCCAGCAAAC	0.393																																																0			20											118.0	118.0	118.0					20																	9376218		2203	4300	6503	9324218	SO:0001583	missense	5332				CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.1463C>T	20.37:g.9376218C>T	ENSP00000367754:p.Ser488Phe		9324218	B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Missense_Mutation	SNP	superfamily_SSF50729,superfamily_SSF47473,HMMPfam_efhand_like,HMMSmart_PLCXc,HMMPfam_PI-PLC-X,superfamily_PLC-like_Pdiesterase_TIM-brl,HMMPfam_PI-PLC-Y,HMMSmart_PLCYc,superfamily_C2_CaLB,HMMSmart_C2,HMMPfam_C2,HMMPfam_DUF1154	p.S488F	ENST00000378493.1	37	c.1463	CCDS13105.1	20	.	.	.	.	.	.	.	.	.	.	C	12.17	1.858687	0.32791	.	.	ENSG00000101333	ENST00000334005;ENST00000378473;ENST00000278655;ENST00000378493;ENST00000378501;ENST00000414679	T;T;T;T;T;T	0.24350	1.99;2.04;1.99;1.99;1.99;1.86	5.82	5.82	0.92795	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);	0.962314	0.08714	N	0.904565	T	0.30386	0.0763	N	0.14661	0.345	0.29216	N	0.874264	P;B;B;B	0.36110	0.537;0.073;0.021;0.025	P;B;B;B	0.44732	0.459;0.037;0.036;0.039	T	0.49634	-0.8919	10	0.66056	D	0.02	.	20.093	0.97828	0.0:1.0:0.0:0.0	.	488;335;488;488	E2QRH8;Q15147-2;Q15147;Q15147-4	.;.;PLCB4_HUMAN;.	F	488;488;488;488;488;324	ENSP00000334105:S488F;ENSP00000367734:S488F;ENSP00000278655:S488F;ENSP00000367754:S488F;ENSP00000367762:S488F;ENSP00000390616:S324F	ENSP00000278655:S488F	S	+	2	0	PLCB4	9324218	0.950000	0.32346	0.984000	0.44739	0.091000	0.18340	4.701000	0.61810	2.756000	0.94617	0.561000	0.74099	TCC	-	superfamily_PLC-like_Pdiesterase_TIM-brl		0.393	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLCB4	protein_coding	OTTHUMT00000077948.2	C			9324218	+1	no_errors	NM_000933	genbank	human	reviewed	54_36p	missense	SNP	0.981	T
IL17RE	132014	genome.wustl.edu	37	3	9949955	9949955	+	Silent	SNP	G	G	T			TCGA-36-2537-01A-01D-1526-09	TCGA-36-2537-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dabd603f-bcd1-4976-a833-eec6a04af2ca	31ced69f-393b-451f-b853-95f7316fbbc7	g.chr3:9949955G>T	ENST00000383814.3	+	7	804	c.699G>T	c.(697-699)ctG>ctT	p.L233L	IL17RE_ENST00000421412.1_Silent_p.L266L|IL17RE_ENST00000454190.2_Silent_p.L233L|IL17RE_ENST00000295980.3_Silent_p.L233L	NM_153480.1	NP_705613.1	Q8NFR9	I17RE_HUMAN	interleukin 17 receptor E	233					inflammatory response (GO:0006954)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(11)|skin(1)	21				OV - Ovarian serous cystadenocarcinoma(96;5.34e-64)		CTGTAGAGCTGCCTTATGAAT	0.512																																																0			3											106.0	96.0	99.0					3																	9949955		2203	4300	6503	9924955	SO:0001819	synonymous_variant	132014			AF458069	CCDS2589.1, CCDS54552.1	3p25.3	2008-02-05			ENSG00000163701	ENSG00000163701		"""Interleukins and interleukin receptors"""	18439	protein-coding gene	gene with protein product		614995					Standard	NM_153480		Approved	FLJ23658	uc003btu.3	Q8NFR9	OTTHUMG00000128649	ENST00000383814.3:c.699G>T	3.37:g.9949955G>T			9924955	B2RB34|B2RNR1|B9EH65|Q6P532|Q8N8H7|Q8N8H8|Q8TEC2	Silent	SNP	HMMPfam_SEFIR	p.L233	ENST00000383814.3	37	c.699	CCDS2589.1	3																																																																																			-	NULL		0.512	IL17RE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL17RE	protein_coding	OTTHUMT00000250529.1	G	NM_153480		9924955	+1	no_errors	NM_153480	genbank	human	reviewed	54_36p	silent	SNP	0.975	T
DLC1	10395	genome.wustl.edu	37	8	12957274	12957274	+	Missense_Mutation	SNP	C	C	T			TCGA-36-2537-01A-01D-1526-09	TCGA-36-2537-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dabd603f-bcd1-4976-a833-eec6a04af2ca	31ced69f-393b-451f-b853-95f7316fbbc7	g.chr8:12957274C>T	ENST00000276297.4	-	9	2981	c.2572G>A	c.(2572-2574)Gac>Aac	p.D858N	DLC1_ENST00000358919.2_Missense_Mutation_p.D421N|DLC1_ENST00000512044.2_Missense_Mutation_p.D455N|DLC1_ENST00000520226.1_Missense_Mutation_p.D347N	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	858	Focal adhesion-targeting (FAT).				actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TTGGGGCTGTCGCTACTGTTT	0.587																																																0			8											68.0	61.0	63.0					8																	12957274		2203	4300	6503	13001645	SO:0001583	missense	10395			AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.2572G>A	8.37:g.12957274C>T	ENSP00000276297:p.Asp858Asn		13001645	B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	HMMPfam_SAM_2,superfamily_GTPase activation domain GAP,HMMSmart_SM00324,HMMPfam_RhoGAP,superfamily_Bet v1-like,HMMPfam_START,HMMSmart_SM00234	p.D858N	ENST00000276297.4	37	c.2572	CCDS5989.1	8	.	.	.	.	.	.	.	.	.	.	c	0.999	-0.691407	0.03303	.	.	ENSG00000164741	ENST00000276297;ENST00000358919;ENST00000512044;ENST00000520226	T;T;T;T	0.05855	3.63;3.38;3.38;3.38	4.68	3.81	0.43845	.	0.627278	0.15416	N	0.263516	T	0.08492	0.0211	L	0.55481	1.735	0.32232	N	0.573814	D;P;P	0.57257	0.979;0.824;0.89	B;B;B	0.43478	0.421;0.06;0.128	T	0.14699	-1.0463	10	0.38643	T	0.18	.	9.7919	0.40710	0.0:0.8425:0.0:0.1575	.	858;455;421	Q96QB1;E9PDZ8;Q96QB1-1	RHG07_HUMAN;.;.	N	858;421;455;347	ENSP00000276297:D858N;ENSP00000351797:D421N;ENSP00000422595:D455N;ENSP00000428028:D347N	ENSP00000276297:D858N	D	-	1	0	DLC1	13001645	0.201000	0.23410	0.011000	0.14972	0.001000	0.01503	2.056000	0.41355	1.358000	0.45922	-0.119000	0.15052	GAC	-	NULL		0.587	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DLC1	protein_coding	OTTHUMT00000207632.2	C	NM_182643, NM_006094		13001645	-1	no_errors	NM_182643	genbank	human	reviewed	54_36p	missense	SNP	0.001	T
TECR	9524	genome.wustl.edu	37	19	14674819	14674819	+	Missense_Mutation	SNP	C	C	T			TCGA-36-2537-01A-01D-1526-09	TCGA-36-2537-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dabd603f-bcd1-4976-a833-eec6a04af2ca	31ced69f-393b-451f-b853-95f7316fbbc7	g.chr19:14674819C>T	ENST00000215567.5	+	6	430	c.293C>T	c.(292-294)cCc>cTc	p.P98L	TECR_ENST00000436007.2_Missense_Mutation_p.P113L|TECR_ENST00000600083.1_5'UTR|TECR_ENST00000596073.1_5'UTR	NM_138501.5	NP_612510.1	Q9NZ01	TECR_HUMAN	trans-2,3-enoyl-CoA reductase	98					cellular lipid metabolic process (GO:0044255)|fatty acid elongation (GO:0030497)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|nucleus (GO:0005634)	oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)			endometrium(1)|large_intestine(1)|ovary(1)	3						TACGCGGGGCCCCTTTTCATC	0.547																																																0			19											177.0	188.0	184.0					19																	14674819		2203	4300	6503	14535819	SO:0001583	missense	9524			AK001416	CCDS12313.1	19p13.12	2014-05-27	2009-07-21	2009-07-21	ENSG00000099797	ENSG00000099797			4551	protein-coding gene	gene with protein product		610057	"""glycoprotein, synaptic 2"""	SC2, GPSN2		9653160, 12482854	Standard	NM_138501		Approved	TER, MRT14	uc002mza.3	Q9NZ01		ENST00000215567.5:c.293C>T	19.37:g.14674819C>T	ENSP00000215567:p.Pro98Leu		14535819	B2RD55|O75350|Q6IBB2|Q9BWK3|Q9Y6P0	Missense_Mutation	SNP	HMMPfam_Steroid_dh	p.P98L	ENST00000215567.5	37	c.293	CCDS12313.1	19	.	.	.	.	.	.	.	.	.	.	C	21.9	4.218598	0.79464	.	.	ENSG00000099797	ENST00000215567;ENST00000436007	T;T	0.52526	0.72;0.66	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.75606	0.3872	H	0.94925	3.6	0.80722	D	1	D;D;D	0.65815	0.991;0.991;0.995	D;D;D	0.63957	0.92;0.92;0.92	D	0.83586	0.0120	10	0.87932	D	0	-23.9749	15.8423	0.78857	0.0:1.0:0.0:0.0	.	98;113;98	B3KM97;B3KSQ1;Q9NZ01	.;.;TECR_HUMAN	L	98;113	ENSP00000215567:P98L;ENSP00000397206:P113L	ENSP00000215567:P98L	P	+	2	0	TECR	14535819	1.000000	0.71417	0.999000	0.59377	0.738000	0.42128	5.364000	0.66110	2.335000	0.79485	0.455000	0.32223	CCC	-	NULL		0.547	TECR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPSN2	protein_coding	OTTHUMT00000466000.1	C	NM_138501		14535819	+1	no_errors	NM_138501	genbank	human	validated	54_36p	missense	SNP	1.000	T
KCNJ12	3768	genome.wustl.edu	37	17	21319402	21319402	+	Missense_Mutation	SNP	G	G	T			TCGA-36-2537-01A-01D-1526-09	TCGA-36-2537-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dabd603f-bcd1-4976-a833-eec6a04af2ca	31ced69f-393b-451f-b853-95f7316fbbc7	g.chr17:21319402G>T	ENST00000583088.1	+	3	1643	c.748G>T	c.(748-750)Gac>Tac	p.D250Y	KCNJ12_ENST00000331718.5_Missense_Mutation_p.D250Y	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	250					muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	GGACCAGATCGACATCGATGT	0.612										Prostate(3;0.18)																																						0			17											129.0	93.0	105.0					17																	21319402		2203	4300	6503	21259995	SO:0001583	missense	3768			L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6258	protein-coding gene	gene with protein product		602323	"""potassium inwardly-rectifying channel, subfamily J, inhibitor 1"""	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.748G>T	17.37:g.21319402G>T	ENSP00000463778:p.Asp250Tyr		21259995	O43401|Q15756|Q8NG63	Missense_Mutation	SNP	HMMPfam_IRK_N,superfamily_SSF81324,HMMPfam_IRK,superfamily_Ig_E-set	p.D250Y	ENST00000583088.1	37	c.748	CCDS11219.1	17	.	.	.	.	.	.	.	.	.	.	G	23.2	4.387969	0.82902	.	.	ENSG00000184185	ENST00000331718	D	0.95103	-3.61	5.43	5.43	0.79202	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.98024	0.9349	M	0.92880	3.355	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98869	1.0765	10	0.87932	D	0	.	19.2333	0.93849	0.0:0.0:1.0:0.0	.	250	Q14500	IRK12_HUMAN	Y	250	ENSP00000328150:D250Y	ENSP00000328150:D250Y	D	+	1	0	KCNJ12	21259995	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	9.690000	0.98676	2.554000	0.86153	0.655000	0.94253	GAC	-	HMMPfam_IRK,superfamily_Ig_E-set		0.612	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ12	protein_coding	OTTHUMT00000255060.2	G	NM_021012		21259995	+1	no_errors	NM_021012	genbank	human	validated	54_36p	missense	SNP	1.000	T
TNRC6A	27327	genome.wustl.edu	37	16	24817560	24817560	+	Nonsense_Mutation	SNP	C	C	T			TCGA-36-2537-01A-01D-1526-09	TCGA-36-2537-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dabd603f-bcd1-4976-a833-eec6a04af2ca	31ced69f-393b-451f-b853-95f7316fbbc7	g.chr16:24817560C>T	ENST00000395799.3	+	16	4414	c.4285C>T	c.(4285-4287)Cag>Tag	p.Q1429*	TNRC6A_ENST00000315183.7_Nonsense_Mutation_p.Q1380*|CTD-2515A14.1_ENST00000568895.1_RNA	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1429					cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		GGCGCAGAGTCAGAGAAGCGT	0.502																																																0			16											77.0	66.0	70.0					16																	24817560		2197	4300	6497	24725061	SO:0001587	stop_gained	27327			U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"""Trinucleotide (CAG) repeat containing"""	11969	protein-coding gene	gene with protein product		610739	"""trinucleotide repeat containing 6"""	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.4285C>T	16.37:g.24817560C>T	ENSP00000379144:p.Gln1429*		24725061	C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Nonsense_Mutation	SNP	PatternScan_TUBULIN_B_AUTOREG,HMMPfam_Ago_hook,superfamily_RNA-binding domain RBD	p.Q1429*	ENST00000395799.3	37	c.4285	CCDS10624.2	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	46|46	12.138102|12.138102	0.99639|0.99639	.|.	.|.	ENSG00000090905|ENSG00000090905	ENST00000315183;ENST00000395799|ENST00000450465	.|.	.|.	.|.	6.16|6.16	6.16|6.16	0.99307|0.99307	.|.	0.121108|.	0.56097|.	D|.	0.000025|.	.|T	.|0.72835	.|0.3510	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.63834	.|-0.6547	.|5	0.42905|0.24483	T|T	0.14|0.36	-5.5235|-5.5235	20.8598|20.8598	0.99761|0.99761	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|L	1380;1429|319	.|.	ENSP00000326900:Q1380X|ENSP00000404278:S319L	Q|S	+|+	1|2	0|0	TNRC6A|TNRC6A	24725061|24725061	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.791000|6.791000	0.75120|0.75120	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	CAG|TCA	-	NULL		0.502	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	TNRC6A	protein_coding	OTTHUMT00000214081.1	C	NM_020847		24725061	+1	no_errors	NM_014494	genbank	human	reviewed	54_36p	nonsense	SNP	1.000	T
NINL	22981	genome.wustl.edu	37	20	25456923	25456923	+	Missense_Mutation	SNP	C	C	T			TCGA-36-2537-01A-01D-1526-09	TCGA-36-2537-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dabd603f-bcd1-4976-a833-eec6a04af2ca	31ced69f-393b-451f-b853-95f7316fbbc7	g.chr20:25456923C>T	ENST00000278886.6	-	17	3077	c.3004G>A	c.(3004-3006)Gag>Aag	p.E1002K	NINL_ENST00000422516.1_Intron	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	1002					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|microtubule (GO:0005874)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						AGGGCGCCCTCGGCCCGGGCC	0.677																																																0			20											44.0	49.0	47.0					20																	25456923		2203	4300	6503	25404923	SO:0001583	missense	22981				CCDS33452.1	20p11.22-p11.1	2013-01-10			ENSG00000101004	ENSG00000101004		"""EF-hand domain containing"""	29163	protein-coding gene	gene with protein product	"""ninein-like protein"""	609580				10231032	Standard	XM_005260678		Approved	KIAA0980, NLP	uc002wux.1	Q9Y2I6	OTTHUMG00000032127	ENST00000278886.6:c.3004G>A	20.37:g.25456923C>T	ENSP00000278886:p.Glu1002Lys		25404923	A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Missense_Mutation	SNP	superfamily_SSF47473,HMMSmart_EFh,HMMPfam_efhand,PatternScan_EF_HAND_1	p.E1002K	ENST00000278886.6	37	c.3004	CCDS33452.1	20	.	.	.	.	.	.	.	.	.	.	C	2.796	-0.250160	0.05867	.	.	ENSG00000101004	ENST00000278886	T	0.05649	3.41	3.55	-6.64	0.01801	.	11.902300	0.00166	N	0.000003	T	0.02767	0.0083	N	0.12182	0.205	0.09310	N	1	B	0.18461	0.028	B	0.09377	0.004	T	0.41574	-0.9501	10	0.02654	T	1	2.1223	6.1186	0.20139	0.1432:0.2349:0.0:0.6219	.	1002	Q9Y2I6	NINL_HUMAN	K	1002	ENSP00000278886:E1002K	ENSP00000278886:E1002K	E	-	1	0	NINL	25404923	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-0.615000	0.05597	-0.960000	0.03613	0.561000	0.74099	GAG	-	NULL		0.677	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NLP	protein_coding	OTTHUMT00000078445.3	C	NM_025176		25404923	-1	no_errors	NM_025176	genbank	human	validated	54_36p	missense	SNP	0.000	T
NEK10	152110	genome.wustl.edu	37	3	27216277	27216277	+	Silent	SNP	G	G	A			TCGA-36-2537-01A-01D-1526-09	TCGA-36-2537-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dabd603f-bcd1-4976-a833-eec6a04af2ca	31ced69f-393b-451f-b853-95f7316fbbc7	g.chr3:27216277G>A	ENST00000429845.2	-	28	2915	c.2553C>T	c.(2551-2553)gcC>gcT	p.A851A	NEK10_ENST00000295720.6_Silent_p.A163A|NEK10_ENST00000498182.1_5'UTR|NEK10_ENST00000357467.2_Silent_p.A248A|NEK10_ENST00000383770.3_Silent_p.A163A|NEK10_ENST00000383771.4_Silent_p.A163A			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	851					positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein autophosphorylation (GO:0031954)|protein phosphorylation (GO:0006468)|regulation of cell cycle G2/M phase transition (GO:1902749)|regulation of ERK1 and ERK2 cascade (GO:0070372)	protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TTTTCAGGCTGGCTGCTCCAC	0.488																																																0			3											129.0	130.0	130.0					3																	27216277		2203	4300	6503	27191281	SO:0001819	synonymous_variant	152110			AK123061, AK057247	CCDS46781.1	3p24.1	2012-11-15	2012-11-15		ENSG00000163491	ENSG00000163491			18592	protein-coding gene	gene with protein product			"""NIMA (never in mitosis gene a)- related kinase 10"""			15289607	Standard	NM_199347		Approved	FLJ32685	uc003cdt.2	Q6ZWH5	OTTHUMG00000130571	ENST00000429845.2:c.2553C>T	3.37:g.27216277G>A			27191281	A8MWG1|B9ZVR0|Q45VJ4|Q6ZR11|Q7Z671|Q86XB1|Q96MB3	Silent	SNP	HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_TYR	p.A248	ENST00000429845.2	37	c.744		3																																																																																			-	NULL		0.488	NEK10-016	NOVEL	basic|appris_principal	protein_coding	NEK10	protein_coding	OTTHUMT00000438156.1	G	NM_152534		27191281	-1	no_errors	ENST00000396636	ensembl	human	known	54_36p	silent	SNP	1.000	A
LTA	4049	genome.wustl.edu	37	6	31541137	31541137	+	Missense_Mutation	SNP	C	C	A			TCGA-36-2537-01A-01D-1526-09	TCGA-36-2537-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dabd603f-bcd1-4976-a833-eec6a04af2ca	31ced69f-393b-451f-b853-95f7316fbbc7	g.chr6:31541137C>A	ENST00000454783.1	+	4	543	c.285C>A	c.(283-285)agC>agA	p.S95R	TNF_ENST00000449264.2_5'Flank|LTA_ENST00000418386.2_Missense_Mutation_p.S95R	NM_001159740.2	NP_001153212.1	P01374	TNFB_HUMAN	lymphotoxin alpha	95					apoptotic process (GO:0006915)|cell-cell signaling (GO:0007267)|defense response to Gram-positive bacterium (GO:0050830)|humoral immune response (GO:0006959)|lymph node development (GO:0048535)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of growth of symbiont in host (GO:0044130)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chronic inflammatory response to antigenic stimulus (GO:0002876)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of interferon-gamma production (GO:0032729)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|membrane (GO:0016020)	receptor binding (GO:0005102)			endometrium(2)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9					Etanercept(DB00005)	TCTCCTTGAGCAACAATTCTC	0.567																																																0			6											116.0	99.0	104.0					6																	31541137		2203	4300	6503	31649116	SO:0001583	missense	4049			X01393	CCDS4701.1	6p21.3	2013-05-22	2013-05-22		ENSG00000226979	ENSG00000226979		"""Tumor necrosis factor (ligand) superfamily"""	6709	protein-coding gene	gene with protein product	"""TNF superfamily member 1"""	153440	"""lymphotoxin alpha (TNF superfamily, member 1)"""	TNFB		2995927, 3001529	Standard	NM_001159740		Approved	TNFSF1, LT	uc011dnu.2	P01374	OTTHUMG00000031135	ENST00000454783.1:c.285C>A	6.37:g.31541137C>A	ENSP00000403495:p.Ser95Arg		31649116	Q8N4C3|Q9UKS8	Missense_Mutation	SNP	superfamily_TNF-like,HMMSmart_SM00207,HMMPfam_TNF,PatternScan_TNF_1	p.S95R	ENST00000454783.1	37	c.285	CCDS4701.1	6	.	.	.	.	.	.	.	.	.	.	C	10.67	1.414427	0.25465	.	.	ENSG00000226979	ENST00000454783;ENST00000418386;ENST00000436827	D;D	0.94650	-3.48;-3.48	5.16	5.16	0.70880	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	0.491060	0.24798	N	0.035504	D	0.85906	0.5806	L	0.37630	1.12	0.41939	D	0.990609	B;B;B	0.20988	0.009;0.05;0.015	B;B;B	0.22880	0.011;0.042;0.012	T	0.81145	-0.1066	10	0.16420	T	0.52	-5.4097	14.0181	0.64536	0.0:1.0:0.0:0.0	.	95;95;95	E7ET53;F8WB56;P01374	.;.;TNFB_HUMAN	R	95	ENSP00000403495:S95R;ENSP00000413450:S95R	ENSP00000413450:S95R	S	+	3	2	LTA	31649116	0.957000	0.32711	1.000000	0.80357	0.974000	0.67602	0.901000	0.28445	2.676000	0.91093	0.655000	0.94253	AGC	-	superfamily_TNF-like,HMMSmart_SM00207,HMMPfam_TNF		0.567	LTA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LTA	protein_coding	OTTHUMT00000259097.1	C			31649116	+1	no_errors	NM_000595	genbank	human	reviewed	54_36p	missense	SNP	0.999	A
VPS52	6293	genome.wustl.edu	37	6	33238021	33238021	+	Nonsense_Mutation	SNP	C	C	A			TCGA-36-2537-01A-01D-1526-09	TCGA-36-2537-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dabd603f-bcd1-4976-a833-eec6a04af2ca	31ced69f-393b-451f-b853-95f7316fbbc7	g.chr6:33238021C>A	ENST00000445902.2	-	2	348	c.130G>T	c.(130-132)Gag>Tag	p.E44*	RPS18_ENST00000474973.1_5'Flank|VPS52_ENST00000478934.1_5'UTR|VPS52_ENST00000482399.1_3'UTR|RPS18_ENST00000439602.2_5'Flank|VPS52_ENST00000436044.2_5'UTR	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	44					ectodermal cell differentiation (GO:0010668)|embryonic ectodermal digestive tract development (GO:0048611)|protein transport (GO:0015031)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						ATATCCAACTCCCCAAGTTGC	0.493																																																0			6											114.0	117.0	116.0					6																	33238021		2203	4300	6503	33345999	SO:0001587	stop_gained	6293			AJ223319	CCDS4770.2	6p21.3	2010-02-17	2006-12-19	2003-09-05	ENSG00000223501	ENSG00000223501			10518	protein-coding gene	gene with protein product		603443	"""SAC2 suppressor of actin mutations 2-like (yeast)"", ""vacuolar protein sorting 52 (yeast)"""	SACM2L		9790748	Standard	NM_022553		Approved	ARE1	uc003odm.1	Q8N1B4	OTTHUMG00000031276	ENST00000445902.2:c.130G>T	6.37:g.33238021C>A	ENSP00000409952:p.Glu44*		33345999	A2BF38|B0UZZ4|B4DNI9|Q53GR4|Q5JPA0|Q5SQW1|Q8IUN6|Q9NPT5	Nonsense_Mutation	SNP	HMMPfam_Vps52	p.E44*	ENST00000445902.2	37	c.130	CCDS4770.2	6	.	.	.	.	.	.	.	.	.	.	C	38	6.807489	0.97853	.	.	ENSG00000223501	ENST00000445902;ENST00000418054	.	.	.	5.42	5.42	0.78866	.	0.123536	0.52532	D	0.000062	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-13.8019	14.5864	0.68328	0.0:1.0:0.0:0.0	.	.	.	.	X	44;22	.	ENSP00000414785:E22X	E	-	1	0	VPS52	33345999	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.434000	0.59935	2.826000	0.97356	0.579000	0.79373	GAG	-	NULL		0.493	VPS52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS52	protein_coding	OTTHUMT00000076598.2	C	NM_022553		33345999	-1	no_errors	NM_022553	genbank	human	reviewed	54_36p	nonsense	SNP	1.000	A
UNC13B	10497	genome.wustl.edu	37	9	35377622	35377622	+	Silent	SNP	G	G	A			TCGA-36-2537-01A-01D-1526-09	TCGA-36-2537-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dabd603f-bcd1-4976-a833-eec6a04af2ca	31ced69f-393b-451f-b853-95f7316fbbc7	g.chr9:35377622G>A	ENST00000378495.3	+	15	1968	c.1746G>A	c.(1744-1746)caG>caA	p.Q582Q	UNC13B_ENST00000396787.1_Silent_p.Q594Q|UNC13B_ENST00000378496.4_Silent_p.Q582Q	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	582					apoptotic process (GO:0006915)|excretion (GO:0007588)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synaptic vesicle priming (GO:0010808)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|terminal bouton (GO:0043195)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			CCCATGTGCAGCAGATGAAAA	0.507																																																0			9											61.0	54.0	56.0					9																	35377622		2203	4300	6503	35367622	SO:0001819	synonymous_variant	10497			AF020202	CCDS6579.1	9p13.3	2008-05-15	2003-10-17	2003-10-17	ENSG00000198722	ENSG00000198722			12566	protein-coding gene	gene with protein product		605836	"""unc-13-like (C. elegans)"""	UNC13		9607201	Standard	NM_006377		Approved	hmunc13, Unc13h2	uc003zwq.3	O14795	OTTHUMG00000019856	ENST00000378495.3:c.1746G>A	9.37:g.35377622G>A			35367622	Q5VYM8	Silent	SNP	HMMSmart_C2,superfamily_C2_CaLB,HMMPfam_C2,superfamily_SSF57889,HMMSmart_C1,PatternScan_ZF_DAG_PE_1,HMMPfam_C1_1,HMMPfam_DUF1041,HMMPfam_Membr_traf_MHD	p.Q582	ENST00000378495.3	37	c.1746	CCDS6579.1	9																																																																																			-	superfamily_C2_CaLB		0.507	UNC13B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	UNC13B	protein_coding	OTTHUMT00000052296.1	G	NM_006377		35367622	+1	no_errors	NM_006377	genbank	human	reviewed	54_36p	silent	SNP	1.000	A
KDELR3	11015	genome.wustl.edu	37	22	38877312	38877312	+	Silent	SNP	T	T	A	rs148490231		TCGA-36-2537-01A-01D-1526-09	TCGA-36-2537-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dabd603f-bcd1-4976-a833-eec6a04af2ca	31ced69f-393b-451f-b853-95f7316fbbc7	g.chr22:38877312T>A	ENST00000216014.4	+	4	619	c.447T>A	c.(445-447)acT>acA	p.T149T	KDELR3_ENST00000409006.3_Silent_p.T149T|KDELR3_ENST00000471268.1_3'UTR	NM_006855.2	NP_006846.1	O43731	ERD23_HUMAN	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 3	149					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|protein retention in ER lumen (GO:0006621)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ER retention sequence binding (GO:0046923)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)	13	Melanoma(58;0.0286)					CCATAACTACTCACTACCTGT	0.493																																					Ovarian(11;103 529 24120 28493 32980)											0			22											150.0	143.0	145.0					22																	38877312		2203	4300	6503	37207258	SO:0001819	synonymous_variant	11015			AL035081	CCDS13972.1, CCDS46705.1	22q13	2008-05-02			ENSG00000100196	ENSG00000100196			6306	protein-coding gene	gene with protein product							Standard	NM_006855		Approved		uc003avu.3	O43731	OTTHUMG00000153520	ENST00000216014.4:c.447T>A	22.37:g.38877312T>A			37207258	A8K7T7|B8ZZ26|O95557|Q4V750|Q4V767|Q53FP4|Q53GK1	Silent	SNP	HMMPfam_ER_lumen_recept,PatternScan_ER_LUMEN_RECEPTOR_1,PatternScan_ER_LUMEN_RECEPTOR_2	p.T149	ENST00000216014.4	37	c.447	CCDS13972.1	22																																																																																			-	HMMPfam_ER_lumen_recept		0.493	KDELR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDELR3	protein_coding	OTTHUMT00000331474.1	T			37207258	+1	no_errors	NM_016657	genbank	human	reviewed	54_36p	silent	SNP	0.994	A
EFTUD2	9343	genome.wustl.edu	37	17	42930905	42930905	+	Missense_Mutation	SNP	C	C	A			TCGA-36-2537-01A-01D-1526-09	TCGA-36-2537-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dabd603f-bcd1-4976-a833-eec6a04af2ca	31ced69f-393b-451f-b853-95f7316fbbc7	g.chr17:42930905C>A	ENST00000426333.2	-	24	2743	c.2446G>T	c.(2446-2448)Gtc>Ttc	p.V816F	EFTUD2_ENST00000591382.1_Missense_Mutation_p.V816F|EFTUD2_ENST00000402521.3_Missense_Mutation_p.V781F|EFTUD2_ENST00000592576.1_Missense_Mutation_p.V806F	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	816					gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				GCAGAGTAGACGACTCTCCTG	0.582																																					Ovarian(10;65 485 10258 29980 30707)											0			17											56.0	53.0	54.0					17																	42930905		2203	4300	6503	40286431	SO:0001583	missense	9343			D21163	CCDS11489.1, CCDS45707.1, CCDS59295.1	17q21.31	2014-08-12			ENSG00000108883	ENSG00000108883			30858	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 116 kD"""	603892				9233818	Standard	NM_004247		Approved	U5-116KD, Snrp116, Snu114, SNRNP116	uc002ihn.2	Q15029	OTTHUMG00000179865	ENST00000426333.2:c.2446G>T	17.37:g.42930905C>A	ENSP00000392094:p.Val816Phe		40286431	B4DK30|B4DMC0|D3DX58|K7EJ81|Q9BUR0	Missense_Mutation	SNP	PatternScan_EFACTOR_GTP,superfamily_SSF52540,HMMPfam_GTP_EFTU,superfamily_Translat_factor,HMMPfam_GTP_EFTU_D2,superfamily_EFG_III_V,superfamily_Ribosomal_S5_D2-typ_fold,HMMPfam_EFG_IV,HMMPfam_EFG_C	p.V816F	ENST00000426333.2	37	c.2446	CCDS11489.1	17	.	.	.	.	.	.	.	.	.	.	C	17.57	3.423178	0.62733	.	.	ENSG00000108883	ENST00000426333;ENST00000262414;ENST00000402521	T;T	0.26518	1.73;1.73	4.68	4.68	0.58851	Ribosomal protein S5 domain 2-type fold (1);Translation elongation factor EFG/EF2, domain IV (2);Ribosomal protein S5 domain 2-type fold, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.32010	0.0815	N	0.16708	0.43	0.80722	D	1	D;D	0.54207	0.965;0.965	P;P	0.58577	0.841;0.841	T	0.15350	-1.0440	10	0.49607	T	0.09	-27.1046	17.7902	0.88550	0.0:1.0:0.0:0.0	.	806;816	B4DMC0;Q15029	.;U5S1_HUMAN	F	816;806;781	ENSP00000392094:V816F;ENSP00000385873:V781F	ENSP00000262414:V806F	V	-	1	0	EFTUD2	40286431	1.000000	0.71417	0.942000	0.38095	0.529000	0.34654	7.617000	0.83032	2.426000	0.82243	0.563000	0.77884	GTC	-	superfamily_Ribosomal_S5_D2-typ_fold,HMMPfam_EFG_IV		0.582	EFTUD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	EFTUD2	protein_coding	OTTHUMT00000448672.1	C	NM_004247		40286431	-1	no_errors	NM_004247	genbank	human	validated	54_36p	missense	SNP	1.000	A
LSR	51599	genome.wustl.edu	37	19	35757275	35757275	+	Silent	SNP	C	C	T			TCGA-36-2537-01A-01D-1526-09	TCGA-36-2537-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dabd603f-bcd1-4976-a833-eec6a04af2ca	31ced69f-393b-451f-b853-95f7316fbbc7	g.chr19:35757275C>T	ENST00000361790.3	+	6	1095	c.936C>T	c.(934-936)ggC>ggT	p.G312G	USF2_ENST00000222305.3_5'Flank|AD000684.2_ENST00000602262.1_RNA|LSR_ENST00000347609.4_Silent_p.G275G|LSR_ENST00000360798.3_Silent_p.G244G|USF2_ENST00000595068.1_5'Flank|USF2_ENST00000594064.1_5'Flank|USF2_ENST00000379134.3_5'Flank|USF2_ENST00000343550.5_5'Flank|LSR_ENST00000427250.1_Silent_p.G156G|LSR_ENST00000354900.3_Silent_p.G293G|LSR_ENST00000602122.1_Silent_p.G293G	NM_205834.3	NP_991403.1	Q86X29	LSR_HUMAN	lipolysis stimulated lipoprotein receptor	312					embryo development (GO:0009790)|liver development (GO:0001889)	chylomicron (GO:0042627)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)		p.G312G(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			ATGCCGCCGGCAAAGCAGCCA	0.617																																																1	Substitution - coding silent(1)	lung(1)	19											86.0	86.0	86.0					19																	35757275		2203	4300	6503	40449115	SO:0001819	synonymous_variant	51599			AF130366	CCDS12449.1, CCDS12450.1, CCDS12451.1, CCDS59376.1	19q13.12	2013-01-11			ENSG00000105699	ENSG00000105699		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29572	protein-coding gene	gene with protein product	"""lipolysis-stimulated remnant"", ""immunoglobulin-like domain containing receptor 3"""					10224102	Standard	NM_015925		Approved	LISCH7, ILDR3	uc002nyl.3	Q86X29		ENST00000361790.3:c.936C>T	19.37:g.35757275C>T			40449115	A6NDW3|B4DKL4|E9PHD4|O00112|O00426|Q6ZT80|Q8NBM0|Q9BT33|Q9UQL3	Silent	SNP	superfamily_Immunoglobulin,HMMSmart_SM00409,HMMPfam_LSR,PatternScan_ADH_SHORT	p.G312	ENST00000361790.3	37	c.936	CCDS12450.1	19																																																																																			-	PatternScan_ADH_SHORT		0.617	LSR-003	KNOWN	basic|appris_principal|CCDS	protein_coding	LSR	protein_coding	OTTHUMT00000465513.2	C	NM_015925		40449115	+1	no_errors	NM_205834	genbank	human	validated	54_36p	silent	SNP	0.993	T
CAPN3	825	genome.wustl.edu	37	15	42681172	42681172	+	Missense_Mutation	SNP	G	G	A			TCGA-36-2537-01A-01D-1526-09	TCGA-36-2537-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dabd603f-bcd1-4976-a833-eec6a04af2ca	31ced69f-393b-451f-b853-95f7316fbbc7	g.chr15:42681172G>A	ENST00000397163.3	+	5	898	c.679G>A	c.(679-681)Gcc>Acc	p.A227T	CAPN3_ENST00000356316.3_Missense_Mutation_p.A140T|CAPN3_ENST00000318023.7_Missense_Mutation_p.A227T|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000357568.3_Missense_Mutation_p.A227T|CAPN3_ENST00000349748.3_Missense_Mutation_p.A227T	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	227	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				apoptotic process (GO:0006915)|autolysis (GO:0001896)|cellular response to calcium ion (GO:0071277)|cellular response to salt stress (GO:0071472)|G1 to G0 transition involved in cell differentiation (GO:0070315)|muscle cell cellular homeostasis (GO:0046716)|muscle organ development (GO:0007517)|muscle structure development (GO:0061061)|myofibril assembly (GO:0030239)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of satellite cell activation involved in skeletal muscle regeneration (GO:0014718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein localization to membrane (GO:0072657)|proteolysis (GO:0006508)|regulation of catalytic activity (GO:0050790)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of myoblast differentiation (GO:0045661)|response to calcium ion (GO:0051592)|response to muscle activity (GO:0014850)|sarcomere organization (GO:0045214)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|myofibril (GO:0030016)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)|ligase regulator activity (GO:0055103)|peptidase activity (GO:0008233)|protein complex scaffold (GO:0032947)|signal transducer activity (GO:0004871)|sodium ion binding (GO:0031402)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		CACCACAGAGGCCATGGAGGA	0.502																																																0			15											119.0	116.0	117.0					15																	42681172		2203	4299	6502	40468464	SO:0001583	missense	825			X85030	CCDS10085.1, CCDS10086.1, CCDS32207.1, CCDS45245.1, CCDS45246.1	15q15.1	2014-09-17			ENSG00000092529	ENSG00000092529	3.4.22.52	"""EF-hand domain containing"""	1480	protein-coding gene	gene with protein product		114240		LGMD2, LGMD2A		2555341, 7720071	Standard	NM_024344		Approved	CANP3, p94, nCL-1	uc001zpn.1	P20807	OTTHUMG00000130619	ENST00000397163.3:c.679G>A	15.37:g.42681172G>A	ENSP00000380349:p.Ala227Thr		40468464	A6H8K6|Q7L4R0|Q9BQC8|Q9BTU4|Q9Y5S6|Q9Y5S7	Missense_Mutation	SNP	superfamily_Cysteine proteinases,HMMSmart_SM00230,HMMPfam_Peptidase_C2,PatternScan_THIOL_PROTEASE_CYS,HMMPfam_Calpain_III,HMMSmart_SM00720,superfamily_Calpain large subunit middle domain (domain III),superfamily_EF-hand,HMMSmart_SM00054,HMMPfam_efhand,PatternScan_EF_HAND_1	p.A227T	ENST00000397163.3	37	c.679	CCDS45245.1	15	.	.	.	.	.	.	.	.	.	.	G	36	5.813434	0.96975	.	.	ENSG00000092529	ENST00000356316;ENST00000397163;ENST00000357568;ENST00000349748;ENST00000318023	D;D;D;D;D	0.98150	-4.75;-4.75;-4.75;-4.75;-4.75	5.41	5.41	0.78517	Peptidase C2, calpain, catalytic domain (3);	0.067550	0.64402	U	0.000019	D	0.99099	0.9690	M	0.93241	3.395	0.80722	D	1	D;D;P;P;D;D	0.59357	0.983;0.966;0.822;0.891;0.966;0.985	P;D;P;P;P;D	0.72338	0.905;0.923;0.67;0.72;0.908;0.977	D	0.99285	1.0897	10	0.87932	D	0	.	19.398	0.94614	0.0:0.0:1.0:0.0	.	140;140;227;227;227;140	C6EVS4;C6EVS3;P20807-2;P20807-3;P20807;Q762C8	.;.;.;.;CAN3_HUMAN;.	T	140;227;227;227;227	ENSP00000348667:A140T;ENSP00000380349:A227T;ENSP00000350181:A227T;ENSP00000183936:A227T;ENSP00000326281:A227T	ENSP00000326281:A227T	A	+	1	0	CAPN3	40468464	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.528000	0.98046	2.826000	0.97356	0.561000	0.74099	GCC	-	superfamily_Cysteine proteinases,HMMSmart_SM00230,HMMPfam_Peptidase_C2		0.502	CAPN3-009	KNOWN	basic|CCDS	protein_coding	CAPN3	protein_coding	OTTHUMT00000421075.1	G			40468464	+1	no_errors	NM_000070	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
LOXHD1	125336	genome.wustl.edu	37	18	44057673	44057673	+	Missense_Mutation	SNP	C	C	T	rs74316327	byFrequency	TCGA-36-2537-01A-01D-1526-09	TCGA-36-2537-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dabd603f-bcd1-4976-a833-eec6a04af2ca	31ced69f-393b-451f-b853-95f7316fbbc7	g.chr18:44057673C>T	ENST00000398722.4	-	34	5749	c.5750G>A	c.(5749-5751)cGc>cAc	p.R1917H	LOXHD1_ENST00000536736.1_Missense_Mutation_p.R2133H|LOXHD1_ENST00000579038.1_Missense_Mutation_p.R988H|LOXHD1_ENST00000441551.2_Missense_Mutation_p.R1989H|LOXHD1_ENST00000398705.2_Missense_Mutation_p.R434H|LOXHD1_ENST00000300591.6_Missense_Mutation_p.R1084H|LOXHD1_ENST00000582408.1_Missense_Mutation_p.R1022H|LOXHD1_ENST00000441893.2_Missense_Mutation_p.R1066H|LOXHD1_ENST00000398686.4_Missense_Mutation_p.R434H			Q8IVV2	LOXH1_HUMAN	lipoxygenase homology domains 1	1917	PLAT 14. {ECO:0000255|PROSITE- ProRule:PRU00152}.				calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|sensory perception of sound (GO:0007605)	membrane (GO:0016020)|stereocilium (GO:0032420)	calcium channel activity (GO:0005262)			NS(3)|autonomic_ganglia(1)|breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(2)|pancreas(1)|prostate(4)|skin(4)|stomach(1)	36						GAAGAGGTTGCGCATTTTCTG	0.617													C|||	136	0.0271565	0.0008	0.0605	5008	,	,		21838	0.001		0.0765	False		,,,				2504	0.0153															0			18						C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	20,1364		0,20,672	96.0	92.0	93.0		6398,1301,1301,3251	4.3	1.0	18	dbSNP_131	93	254,2928		13,228,1350	yes	missense,missense,missense,missense	LOXHD1	NM_144612.6,NM_001173129.1,NM_001145473.2,NM_001145472.2	29,29,29,29	13,248,2022	TT,TC,CC		7.9824,1.4451,6.0009	benign,benign,benign,benign	2133/2212,434/458,434/513,1084/1115	44057673	274,4292	692	1591	2283	42311671	SO:0001583	missense	125336			AK057232	CCDS45861.1, CCDS45862.1, CCDS54184.1	18q21.1	2009-09-11			ENSG00000167210	ENSG00000167210			26521	protein-coding gene	gene with protein product		613072	"""deafness, autosomal recessive 77"""	DFNB77		19732867	Standard	NM_144612		Approved	FLJ32670, LH2D1	uc010xcw.1	Q8IVV2	OTTHUMG00000132644	ENST00000398722.4:c.5750G>A	18.37:g.44057673C>T	ENSP00000381707:p.Arg1917His		42311671	B7WNN3|B7WNT1|B7WPI9|Q6ZRY7|Q86WW9|Q96DL7	Missense_Mutation	SNP	superfamily_Lipase/lipooxygenase domain (PLAT/LH2 domain),HMMPfam_PLAT,HMMSmart_SM00308	p.R1917H	ENST00000398722.4	37	c.5750		18	79	0.036172161172161175	0	0.0	29	0.08011049723756906	1	0.0017482517482517483	49	0.06464379947229551	C	15.74	2.922300	0.52653	0.014451	0.079824	ENSG00000167210	ENST00000300591;ENST00000398722;ENST00000398705;ENST00000536736;ENST00000441893;ENST00000398686	T;T;T;T;T;T	0.30714	1.52;1.52;1.52;1.52;1.52;1.52	5.14	4.26	0.50523	Lipoxygenase, LH2 (3);Lipase/lipooxygenase, PLAT/LH2 (1);	.	.	.	.	T	0.01489	0.0048	L	0.48218	1.51	0.47009	D	0.999281	B;B;B	0.27971	0.004;0.004;0.196	B;B;B	0.23852	0.006;0.006;0.049	T	0.01795	-1.1272	9	0.49607	T	0.09	.	13.8868	0.63712	0.0:0.9248:0.0:0.0752	.	2133;1066;1917	F5GZB4;F8WA52;Q8IVV2	.;.;LOXH1_HUMAN	H	1084;1917;434;2133;1066;434	ENSP00000300591:R1084H;ENSP00000381707:R1917H;ENSP00000381692:R434H;ENSP00000444586:R2133H;ENSP00000409062:R1066H;ENSP00000381676:R434H	ENSP00000300591:R1084H	R	-	2	0	LOXHD1	42311671	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	4.944000	0.63561	2.401000	0.81631	0.561000	0.74099	CGC	-	superfamily_Lipase/lipooxygenase domain (PLAT/LH2 domain),HMMPfam_PLAT		0.617	LOXHD1-201	KNOWN	basic	protein_coding	LOXHD1	protein_coding		C	NM_144612		42311671	-1	no_errors	ENST00000398722	ensembl	human	known	54_36p	missense	SNP	1.000	T
CUL7	9820	genome.wustl.edu	37	6	43008015	43008015	+	Silent	SNP	C	C	T			TCGA-36-2537-01A-01D-1526-09	TCGA-36-2537-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dabd603f-bcd1-4976-a833-eec6a04af2ca	31ced69f-393b-451f-b853-95f7316fbbc7	g.chr6:43008015C>T	ENST00000265348.3	-	22	4258	c.4173G>A	c.(4171-4173)gtG>gtA	p.V1391V	CUL7_ENST00000535468.1_Silent_p.V1475V			Q14999	CUL7_HUMAN	cullin 7	1391					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epithelial to mesenchymal transition (GO:0001837)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|placenta development (GO:0001890)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	3M complex (GO:1990393)|anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|Cul7-RING ubiquitin ligase complex (GO:0031467)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			ACAGGACAAGCACAGACACTT	0.577																																																0			6											179.0	124.0	143.0					6																	43008015		2203	4300	6503	43115993	SO:0001819	synonymous_variant	9820			BC033647	CCDS4881.1, CCDS55003.1	6p21.1	2011-05-24	2004-03-22	2004-03-22	ENSG00000044090	ENSG00000044090			21024	protein-coding gene	gene with protein product		609577	"""KIAA0076"""	KIAA0076		12481031, 12904573	Standard	NM_014780		Approved	dJ20C7.5	uc011dvb.2	Q14999	OTTHUMG00000014718	ENST00000265348.3:c.4173G>A	6.37:g.43008015C>T			43115993	B4DYZ0|F5H0L1|Q5T654	Silent	SNP	PatternScan_CULLIN_1,superfamily_Gal_bind_like,HMMPfam_APC10,HMMPfam_Cullin,superfamily_Cullin_homology,superfamily_SSF46785	p.V1391	ENST00000265348.3	37	c.4173	CCDS4881.1	6																																																																																			-	HMMPfam_Cullin,superfamily_Cullin_homology		0.577	CUL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUL7	protein_coding	OTTHUMT00000040575.1	C	NM_014780		43115993	-1	no_errors	NM_014780	genbank	human	validated	54_36p	silent	SNP	0.968	T
TNNC2	7125	genome.wustl.edu	37	20	44451999	44451999	+	Missense_Mutation	SNP	C	C	A			TCGA-36-2537-01A-01D-1526-09	TCGA-36-2537-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dabd603f-bcd1-4976-a833-eec6a04af2ca	31ced69f-393b-451f-b853-95f7316fbbc7	g.chr20:44451999C>A	ENST00000372555.3	-	6	563	c.471G>T	c.(469-471)gaG>gaT	p.E157D	TNNC2_ENST00000372557.1_Missense_Mutation_p.E142D	NM_003279.2	NP_003270.1	P02585	TNNC2_HUMAN	troponin C type 2 (fast)	157	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				muscle filament sliding (GO:0030049)|regulation of muscle contraction (GO:0006937)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|troponin complex (GO:0005861)	calcium ion binding (GO:0005509)			endometrium(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(115;0.0122)			Felodipine(DB01023)	ACTGCACGCCCTCCATCATCT	0.662																																																0			20											75.0	49.0	58.0					20																	44451999		2203	4299	6502	43885406	SO:0001583	missense	7125				CCDS13375.1	20q12-q13.11	2013-01-10	2005-09-12		ENSG00000101470	ENSG00000101470		"""EF-hand domain containing"""	11944	protein-coding gene	gene with protein product		191039	"""troponin C2, fast"""			2373703	Standard	NM_003279		Approved		uc002xpr.3	P02585	OTTHUMG00000032623	ENST00000372555.3:c.471G>T	20.37:g.44451999C>A	ENSP00000361636:p.Glu157Asp		43885406	Q6FH92	Missense_Mutation	SNP	superfamily_EF-hand,HMMSmart_SM00054,HMMPfam_efhand,PatternScan_EF_HAND_1	p.E157D	ENST00000372555.3	37	c.471	CCDS13375.1	20	.	.	.	.	.	.	.	.	.	.	C	17.31	3.357475	0.61293	.	.	ENSG00000101470	ENST00000372557;ENST00000372555	T;T	0.74526	-0.85;-0.76	4.92	1.79	0.24919	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.56202	0.1969	N	0.21448	0.665	0.51482	D	0.99992	B	0.11235	0.004	B	0.10450	0.005	T	0.54589	-0.8271	10	0.72032	D	0.01	-22.8217	6.1978	0.20559	0.0:0.5419:0.0:0.4581	.	157	P02585	TNNC2_HUMAN	D	142;157	ENSP00000361638:E142D;ENSP00000361636:E157D	ENSP00000361636:E157D	E	-	3	2	TNNC2	43885406	0.969000	0.33509	0.999000	0.59377	0.923000	0.55619	0.324000	0.19610	1.005000	0.39183	0.491000	0.48974	GAG	-	HMMSmart_SM00054,HMMPfam_efhand		0.662	TNNC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	TNNC2	protein_coding	OTTHUMT00000079524.3	C	NM_003279		43885406	-1	no_errors	NM_003279	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
PDXK	8566	genome.wustl.edu	37	21	45157298	45157298	+	Intron	SNP	G	G	T			TCGA-36-2537-01A-01D-1526-09	TCGA-36-2537-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dabd603f-bcd1-4976-a833-eec6a04af2ca	31ced69f-393b-451f-b853-95f7316fbbc7	g.chr21:45157298G>T	ENST00000291565.4	+	2	325				PDXK_ENST00000468090.1_Intron|PDXK_ENST00000476313.1_Intron|PDXK_ENST00000327574.4_3'UTR|PDXK_ENST00000398081.1_3'UTR	NM_003681.4	NP_003672.1	O00764	PDXK_HUMAN	pyridoxal (pyridoxine, vitamin B6) kinase						cell proliferation (GO:0008283)|pyridoxal 5'-phosphate salvage (GO:0009443)|pyridoxal phosphate biosynthetic process (GO:0042823)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|lithium ion binding (GO:0031403)|magnesium ion binding (GO:0000287)|potassium ion binding (GO:0030955)|protein homodimerization activity (GO:0042803)|pyridoxal kinase activity (GO:0008478)|pyridoxal phosphate binding (GO:0030170)|sodium ion binding (GO:0031402)|zinc ion binding (GO:0008270)			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5				Colorectal(79;0.109)|READ - Rectum adenocarcinoma(84;0.161)|STAD - Stomach adenocarcinoma(101;0.18)	Pyridoxal(DB00147)|Pyridoxine(DB00165)	TCCACCTTGTGGCCAGTATTC	0.632																																																0			21											42.0	42.0	42.0					21																	45157298		692	1591	2283	43981726	SO:0001627	intron_variant	0			U89606	CCDS13699.1	21q22.3	2007-05-10			ENSG00000160209	ENSG00000160209	2.7.1.35		8819	protein-coding gene	gene with protein product		179020	"""chromosome 21 open reading frame 97"", ""chromosome 21 open reading frame 124"""	C21orf97, C21orf124		9099727	Standard	NM_003681		Approved	PNK, PKH, FLJ21324, PRED79, FLJ31940, MGC15873	uc002zdm.4	O00764	OTTHUMG00000086870	ENST00000291565.4:c.142+3294G>T	21.37:g.45157298G>T			43981726	Q7Z2Y0|Q9BS02	Silent	SNP	NULL	p.V90	ENST00000291565.4	37	c.270	CCDS13699.1	21																																																																																			-	NULL		0.632	PDXK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC100133197	protein_coding	OTTHUMT00000195636.1	G	NM_003681		43981726	+1	no_errors	XM_001722695	genbank	human	model	54_36p	silent	SNP	0.002	T
COL6A2	1292	genome.wustl.edu	37	21	47549213	47549213	+	Intron	SNP	A	A	T			TCGA-36-2537-01A-01D-1526-09	TCGA-36-2537-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dabd603f-bcd1-4976-a833-eec6a04af2ca	31ced69f-393b-451f-b853-95f7316fbbc7	g.chr21:47549213A>T	ENST00000300527.4	+	28	2565				COL6A2_ENST00000310645.5_3'UTR|COL6A2_ENST00000357838.4_Silent_p.L855L|COL6A2_ENST00000397763.1_Silent_p.L855L|COL6A2_ENST00000409416.1_3'UTR	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2						axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		AACAGTTGCTAAACGCCACGG	0.697																																																0			21											90.0	87.0	88.0					21																	47549213		2203	4300	6503	46373641	SO:0001627	intron_variant	1292			M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"""Collagens"""	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.2462-2655A>T	21.37:g.47549213A>T			46373641	Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Silent	SNP	superfamily_SSF53300,HMMSmart_VWA,HMMPfam_VWA,HMMPfam_Collagen	p.L855	ENST00000300527.4	37	c.2565	CCDS13728.1	21																																																																																			-	NULL		0.697	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A2	protein_coding	OTTHUMT00000206971.1	A			46373641	+1	no_errors	NM_058174	genbank	human	reviewed	54_36p	silent	SNP	0.998	T
CEACAM5	1048	genome.wustl.edu	37	19	42222192	42222192	+	Missense_Mutation	SNP	G	G	T			TCGA-36-2537-01A-01D-1526-09	TCGA-36-2537-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dabd603f-bcd1-4976-a833-eec6a04af2ca	31ced69f-393b-451f-b853-95f7316fbbc7	g.chr19:42222192G>T	ENST00000221992.6	+	6	1497	c.1383G>T	c.(1381-1383)gaG>gaT	p.E461D	CEACAM5_ENST00000405816.1_Missense_Mutation_p.E461D|CEACAM5_ENST00000398599.4_Missense_Mutation_p.E460D|CEA_ENST00000598976.1_Intron	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	461	Ig-like 5.				homotypic cell-cell adhesion (GO:0034109)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myotube differentiation (GO:0010832)	anchored component of membrane (GO:0031225)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of external side of plasma membrane (GO:0071575)|integral component of plasma membrane (GO:0005887)	GPI anchor binding (GO:0034235)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		ACACACAAGAGCTCTTTATCT	0.517																																																0			19											130.0	104.0	113.0					19																	42222192		2203	4300	6503	46914032	SO:0001583	missense	1048			M17303	CCDS12584.1	19q13.1-q13.2	2013-01-29			ENSG00000105388	ENSG00000105388		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1817	protein-coding gene	gene with protein product		114890		CEA			Standard	XM_005258413		Approved	CD66e	uc002orl.3	P06731	OTTHUMG00000151061	ENST00000221992.6:c.1383G>T	19.37:g.42222192G>T	ENSP00000221992:p.Glu461Asp		46914032	H9KVA7	Missense_Mutation	SNP	HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig	p.E461D	ENST00000221992.6	37	c.1383	CCDS12584.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.09|12.09	1.832211|1.832211	0.32421|0.32421	.|.	.|.	ENSG00000105388|ENSG00000105388	ENST00000398599|ENST00000221992;ENST00000405816;ENST00000378181	.|T;T	.|0.12147	.|2.71;2.71	2.39|2.39	0.0653|0.0653	0.14356|0.14356	.|Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	.|.	.|.	.|.	.|.	T|T	0.22513|0.22513	0.0543|0.0543	L|L	0.50919|0.50919	1.6|1.6	0.09310|0.09310	N|N	1|1	.|P;P	.|0.40180	.|0.705;0.476	.|P;B	.|0.57846	.|0.828;0.292	T|T	0.23797|0.23797	-1.0178|-1.0178	5|9	.|0.49607	.|T	.|0.09	.|.	3.5293|3.5293	0.07770|0.07770	0.1638:0.2672:0.569:0.0|0.1638:0.2672:0.569:0.0	.|.	.|461;461	.|P06731;Q53G30	.|CEAM5_HUMAN;.	S|D	457|461;461;179	.|ENSP00000221992:E461D;ENSP00000385072:E461D	.|ENSP00000221992:E461D	A|E	+|+	1|3	0|2	CEACAM5|CEACAM5	46914032|46914032	0.007000|0.007000	0.16637|0.16637	0.353000|0.353000	0.25747|0.25747	0.043000|0.043000	0.13939|0.13939	0.157000|0.157000	0.16402|0.16402	0.109000|0.109000	0.17891|0.17891	-0.417000|-0.417000	0.06048|0.06048	GCT|GAG	-	superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig		0.517	CEACAM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CEACAM5	protein_coding	OTTHUMT00000321132.2	G	NM_004363		46914032	+1	no_errors	NM_004363	genbank	human	validated	54_36p	missense	SNP	0.355	T
NEDD4	4734	genome.wustl.edu	37	15	56130801	56130801	+	Splice_Site	SNP	T	T	C			TCGA-36-2537-01A-01D-1526-09	TCGA-36-2537-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dabd603f-bcd1-4976-a833-eec6a04af2ca	31ced69f-393b-451f-b853-95f7316fbbc7	g.chr15:56130801T>C	ENST00000508342.1	-	18	3589	c.3290A>G	c.(3289-3291)gAt>gGt	p.D1097G	NEDD4_ENST00000338963.2_Splice_Site_p.D1025G|NEDD4_ENST00000435532.3_Splice_Site_p.D678G|NEDD4_ENST00000506154.1_Splice_Site_p.D1081G	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	1097	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				adaptive immune response (GO:0002250)|blood vessel morphogenesis (GO:0048514)|cellular response to UV (GO:0034644)|cytokine-mediated signaling pathway (GO:0019221)|development involved in symbiotic interaction (GO:0044111)|endocardial cushion development (GO:0003197)|glucocorticoid receptor signaling pathway (GO:0042921)|lysosomal transport (GO:0007041)|negative regulation of sodium ion transport (GO:0010766)|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010768)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|neuromuscular junction development (GO:0007528)|neuron projection development (GO:0031175)|outflow tract morphogenesis (GO:0003151)|positive regulation of nucleocytoplasmic transport (GO:0046824)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|progesterone receptor signaling pathway (GO:0050847)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein targeting to lysosome (GO:0006622)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|receptor internalization (GO:0031623)|regulation of dendrite morphogenesis (GO:0048814)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of synapse organization (GO:0050807)|response to calcium ion (GO:0051592)|T cell activation (GO:0042110)|transmission of virus (GO:0019089)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	apicolateral plasma membrane (GO:0016327)|cell cortex (GO:0005938)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	beta-2 adrenergic receptor binding (GO:0031698)|ligase activity (GO:0016874)|phosphoserine binding (GO:0050815)|phosphothreonine binding (GO:0050816)|proline-rich region binding (GO:0070064)|protein domain specific binding (GO:0019904)|RNA polymerase binding (GO:0070063)|sodium channel inhibitor activity (GO:0019871)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		ATATTCACTATCCTAGATGGG	0.323																																																0			15											59.0	60.0	59.0					15																	56130801		2193	4290	6483	53918093	SO:0001630	splice_region_variant	4734			D42055	CCDS10156.1, CCDS45265.1, CCDS61643.1, CCDS61644.1	15q	2012-02-23	2012-02-23		ENSG00000069869	ENSG00000069869			7727	protein-coding gene	gene with protein product	"""receptor-potentiating factor 1"""	602278	"""neural precursor cell expressed, developmentally down-regulated 4"""			9073511, 8649367	Standard	XR_243101		Approved	KIAA0093, MGC176705, NEDD4-1, RPF1	uc002adi.3	P46934	OTTHUMG00000132015	ENST00000508342.1:c.3289-1A>G	15.37:g.56130801T>C			53918093	A1KY35|A6ND72|A7MD29|B4E2R7|B7ZM59|B7ZM60|B9EGN5|D6RF89	Missense_Mutation	SNP	superfamily_WW_Rsp5_WWP,HMMSmart_WW,HMMPfam_WW,PatternScan_WW_DOMAIN_1,superfamily_HECT,HMMSmart_HECTc,HMMPfam_HECT	p.D1025G	ENST00000508342.1	37	c.3074		15	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	22.9|22.9	4.355639|4.355639	0.82243|0.82243	.|.	.|.	ENSG00000069869|ENSG00000069869	ENST00000508342;ENST00000435532;ENST00000338963;ENST00000506154|ENST00000508871	T;T;T;T|.	0.66815|.	-0.23;-0.23;-0.23;-0.23|.	5.69|5.69	5.69|5.69	0.88448|0.88448	HECT (4);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.91526|0.91526	0.7324|0.7324	H|H	0.99719|0.99719	4.725|4.725	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.91635|.	0.999;0.998;0.998;0.993|.	D|D	0.95129|0.95129	0.8253|0.8253	10|5	0.87932|.	D|.	0|.	.|.	15.1292|15.1292	0.72507|0.72507	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1081;678;1097;1025|.	P46934-2;P46934-4;P46934;P46934-3|.	.;.;NEDD4_HUMAN;.|.	G|V	1097;678;1025;1081|688	ENSP00000424827:D1097G;ENSP00000410613:D678G;ENSP00000345530:D1025G;ENSP00000422705:D1081G|.	ENSP00000345530:D1025G|.	D|I	-|-	2|1	0|0	NEDD4|NEDD4	53918093|53918093	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.962000|0.962000	0.63368|0.63368	7.694000|7.694000	0.84235|0.84235	2.160000|2.160000	0.67779|0.67779	0.528000|0.528000	0.53228|0.53228	GAT|ATA	-	superfamily_HECT,HMMSmart_HECTc,HMMPfam_HECT		0.323	NEDD4-002	KNOWN	basic	protein_coding	NEDD4	protein_coding	OTTHUMT00000359817.1	T	NM_198400	Missense_Mutation	53918093	-1	no_errors	NM_198400	genbank	human	validated	54_36p	missense	SNP	1.000	C
GPR114	221188	genome.wustl.edu	37	16	57601422	57601422	+	Missense_Mutation	SNP	C	C	G			TCGA-36-2537-01A-01D-1526-09	TCGA-36-2537-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dabd603f-bcd1-4976-a833-eec6a04af2ca	31ced69f-393b-451f-b853-95f7316fbbc7	g.chr16:57601422C>G	ENST00000340339.4	+	8	1263	c.740C>G	c.(739-741)cCt>cGt	p.P247R	GPR114_ENST00000349457.3_Missense_Mutation_p.P247R|GPR114_ENST00000394361.4_3'UTR	NM_153837.1	NP_722579.1	Q8IZF4	GP114_HUMAN	G protein-coupled receptor 114	247					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(5)|ovary(2)|stomach(1)|urinary_tract(1)	23						TTGCTGGCACCTCTTACGTAC	0.602																																																0			16											99.0	78.0	85.0					16																	57601422		2198	4300	6498	56158923	SO:0001583	missense	221188			AY140956	CCDS10785.1	16q13	2014-08-08			ENSG00000159618	ENSG00000159618		"""-"", ""GPCR / Class B : Orphans"""	19010	protein-coding gene	gene with protein product						12435584	Standard	NM_153837		Approved	PGR27	uc002ely.3	Q8IZF4	OTTHUMG00000133461	ENST00000340339.4:c.740C>G	16.37:g.57601422C>G	ENSP00000342981:p.Pro247Arg		56158923	B3KXZ5|Q6ZMH7|Q6ZML4|Q86SL8|Q8IZ14	Missense_Mutation	SNP	HMMPfam_GPS,HMMSmart_SM00303,HMMPfam_7tm_2	p.P247R	ENST00000340339.4	37	c.740	CCDS10785.1	16	.	.	.	.	.	.	.	.	.	.	C	9.539	1.112903	0.20795	.	.	ENSG00000159618	ENST00000394361;ENST00000340339;ENST00000349457	T;T	0.31510	1.49;1.49	3.98	3.98	0.46160	.	0.000000	0.42294	U	0.000725	T	0.52435	0.1734	M	0.77103	2.36	0.27749	N	0.944204	D;D	0.89917	0.997;1.0	D;D	0.85130	0.949;0.997	T	0.46830	-0.9163	10	0.59425	D	0.04	.	9.1796	0.37134	0.2168:0.7832:0.0:0.0	.	247;247	B4E148;Q8IZF4	.;GP114_HUMAN	R	247	ENSP00000342981:P247R;ENSP00000290823:P247R	ENSP00000342981:P247R	P	+	2	0	GPR114	56158923	0.155000	0.22806	0.921000	0.36526	0.352000	0.29268	2.742000	0.47434	1.766000	0.52107	0.306000	0.20318	CCT	-	HMMPfam_7tm_2		0.602	GPR114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR114	protein_coding	OTTHUMT00000257336.3	C	NM_153837		56158923	+1	no_errors	NM_153837	genbank	human	provisional	54_36p	missense	SNP	0.699	G
OR9Q1	219956	genome.wustl.edu	37	11	57947150	57947150	+	Silent	SNP	C	C	T			TCGA-36-2537-01A-01D-1526-09	TCGA-36-2537-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dabd603f-bcd1-4976-a833-eec6a04af2ca	31ced69f-393b-451f-b853-95f7316fbbc7	g.chr11:57947150C>T	ENST00000335397.3	+	3	550	c.234C>T	c.(232-234)gtC>gtT	p.V78V		NM_001005212.3	NP_001005212.1	Q8NGQ5	OR9Q1_HUMAN	olfactory receptor, family 9, subfamily Q, member 1	78						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Breast(21;0.222)				CTATCACTGTCCCCCAGATGC	0.498																																																0			11											174.0	151.0	159.0					11																	57947150		2201	4296	6497	57703726	SO:0001819	synonymous_variant	219956			AB065734	CCDS31543.1	11q12.1	2012-08-09				ENSG00000186509		"""GPCR / Class A : Olfactory receptors"""	14724	protein-coding gene	gene with protein product							Standard	NM_001005212		Approved		uc001nmj.3	Q8NGQ5		ENST00000335397.3:c.234C>T	11.37:g.57947150C>T			57703726	Q2TAN3|Q96RA7	Silent	SNP	superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.V78	ENST00000335397.3	37	c.234	CCDS31543.1	11																																																																																			-	superfamily_SSF81321,HMMPfam_7tm_1		0.498	OR9Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR9Q1	protein_coding	OTTHUMT00000394538.2	C	NM_001005212		57703726	+1	no_errors	NM_001005212	genbank	human	provisional	54_36p	silent	SNP	0.004	T
MS4A4E	643680	genome.wustl.edu	37	11	59997512	59997512	+	Missense_Mutation	SNP	C	C	A			TCGA-36-2537-01A-01D-1526-09	TCGA-36-2537-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dabd603f-bcd1-4976-a833-eec6a04af2ca	31ced69f-393b-451f-b853-95f7316fbbc7	g.chr11:59997512C>A	ENST00000528394.1	-	1	16	c.17G>T	c.(16-18)gGa>gTa	p.G6V	MS4A4E_ENST00000526086.1_Missense_Mutation_p.G6V|MS4A4E_ENST00000425663.1_Missense_Mutation_p.G6V|MS4A4E_ENST00000427611.2_5'UTR|MS4A4E_ENST00000398984.2_Missense_Mutation_p.G6V|MS4A4E_ENST00000398986.2_Missense_Mutation_p.G6V			Q96PG1	M4A4E_HUMAN	membrane-spanning 4-domains, subfamily A, member 4E	6						integral component of membrane (GO:0016021)				ovary(1)	1						CTGTTCCATTCCTTGCATGGT	0.448																																																0			11																																								59754088	SO:0001583	missense	643680			AF354936		11q12.2	2012-04-20			ENSG00000214787	ENSG00000214787			14284	protein-coding gene	gene with protein product		608401				11486273	Standard	XM_005275707		Approved		uc001noy.2	Q96PG1	OTTHUMG00000167354	ENST00000528394.1:c.17G>T	11.37:g.59997512C>A	ENSP00000436446:p.Gly6Val		59754088	Q3C1W1|Q3C1W3|Q3C1W4	Missense_Mutation	SNP	HMMPfam_CD20	p.G4V	ENST00000528394.1	37	c.11		11	.	.	.	.	.	.	.	.	.	.	c	10.11	1.259507	0.23051	.	.	ENSG00000214787	ENST00000425663;ENST00000398986;ENST00000398984;ENST00000526086;ENST00000528394	T;T;T;T;T	0.54675	0.78;0.73;0.56;0.73;0.56	2.82	0.903	0.19296	.	11.297700	0.00166	U	0.000013	T	0.68072	0.2961	.	.	.	0.09310	N	1	D;D;D	0.76494	0.982;0.995;0.999	P;P;D	0.72075	0.783;0.83;0.976	T	0.39921	-0.9590	8	.	.	.	.	5.0641	0.14572	0.0:0.7191:0.0:0.2809	.	6;6;6	Q96PG1-3;Q96PG1;Q96PG1-2	.;M4A4E_HUMAN;.	V	6	ENSP00000389556:G6V;ENSP00000381956:G6V;ENSP00000381954:G6V;ENSP00000435601:G6V;ENSP00000436446:G6V	.	G	-	2	0	MS4A4E	59754088	0.000000	0.05858	0.001000	0.08648	0.329000	0.28539	0.064000	0.14437	0.245000	0.21373	0.205000	0.17691	GGA	-	NULL		0.448	MS4A4E-003	NOVEL	basic|appris_candidate	protein_coding	MS4A4E	protein_coding	OTTHUMT00000394290.1	C	XM_003119183		59754088	-1	no_start_codon	ENST00000398984	ensembl	human	known	54_36p	missense	SNP	0.004	A
ZNF264	9422	genome.wustl.edu	37	19	57705353	57705353	+	Silent	SNP	G	G	C			TCGA-36-2537-01A-01D-1526-09	TCGA-36-2537-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dabd603f-bcd1-4976-a833-eec6a04af2ca	31ced69f-393b-451f-b853-95f7316fbbc7	g.chr19:57705353G>C	ENST00000263095.6	+	2	558	c.144G>C	c.(142-144)ggG>ggC	p.G48G	ZNF264_ENST00000600531.1_Silent_p.G48G|ZNF264_ENST00000536056.1_Silent_p.G48G|ZNF264_ENST00000599653.1_Silent_p.G48G	NM_003417.4	NP_003408.1	O43296	ZN264_HUMAN	zinc finger protein 264	48	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)		AAAACTGTGGGCTCCTGGTGT	0.577																																																0			19											117.0	119.0	118.0					19																	57705353		2203	4300	6503	62397165	SO:0001819	synonymous_variant	9422			AB007872	CCDS33127.1	19q13.4	2013-01-08				ENSG00000083844		"""Zinc fingers, C2H2-type"", ""-"""	13057	protein-coding gene	gene with protein product		604668				9455477	Standard	NM_003417		Approved	KIAA0412	uc002qob.3	O43296		ENST00000263095.6:c.144G>C	19.37:g.57705353G>C			62397165	A8K8Y9|Q9P1V0	Silent	SNP	superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1	p.G48	ENST00000263095.6	37	c.144	CCDS33127.1	19																																																																																			-	superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB		0.577	ZNF264-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF264	protein_coding	OTTHUMT00000465080.1	G			62397165	+1	no_errors	NM_003417	genbank	human	validated	54_36p	silent	SNP	0.158	C
STAG3L2	442582	genome.wustl.edu	37	7	74306962	74306962	+	RNA	SNP	G	G	C	rs201591143	byFrequency	TCGA-36-2537-01A-01D-1526-09	TCGA-36-2537-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dabd603f-bcd1-4976-a833-eec6a04af2ca	31ced69f-393b-451f-b853-95f7316fbbc7	g.chr7:74306962G>C	ENST00000423186.1	-	0	0							P0CL84	ST3L2_HUMAN	stromal antigen 3-like 2 (pseudogene)							nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1)	5						GCTGAGAGCTGGAGGTGAGCT	0.677																																																0			7											22.0	22.0	22.0					7																	74306962		876	1983	2859	73944898			5383					7q11.23	2013-06-26	2013-06-26			ENSG00000277072			33886	pseudogene	pseudogene			"""stromal antigen 3-like 2"""				Standard	NR_040584		Approved	MGC131759, STAG3L2P	uc011kfj.2	P0CL84	OTTHUMG00000156216		7.37:g.74306962G>C			73944898	A6NMT8|A8K0A1|Q32NE4|Q6NXR2|Q7L5M5|Q7Z5K6	Missense_Mutation	SNP	NULL	p.W22S	ENST00000423186.1	37	c.65		7																																																																																			-	NULL		0.677	STAG3L2-002	KNOWN	basic	retained_intron	PMS2L5	pseudogene	OTTHUMT00000343523.2	G	NM_001025202		73944898	+1	no_start_codon	ENST00000337023	ensembl	human	known	54_36p	missense	SNP	0.000	C
MDH2	4191	genome.wustl.edu	37	7	75686807	75686807	+	Missense_Mutation	SNP	G	G	C			TCGA-36-2537-01A-01D-1526-09	TCGA-36-2537-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dabd603f-bcd1-4976-a833-eec6a04af2ca	31ced69f-393b-451f-b853-95f7316fbbc7	g.chr7:75686807G>C	ENST00000315758.5	+	3	409	c.315G>C	c.(313-315)aaG>aaC	p.K105N	MDH2_ENST00000432020.2_Missense_Mutation_p.K105N|MDH2_ENST00000443006.1_5'UTR	NM_005918.2	NP_005909.2	P40926	MDHM_HUMAN	malate dehydrogenase 2, NAD (mitochondrial)	105					carbohydrate metabolic process (GO:0005975)|cellular carbohydrate metabolic process (GO:0044262)|cellular metabolic process (GO:0044237)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|internal protein amino acid acetylation (GO:0006475)|malate metabolic process (GO:0006108)|NADH metabolic process (GO:0006734)|oxaloacetate metabolic process (GO:0006107)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	L-malate dehydrogenase activity (GO:0030060)|malate dehydrogenase (NADP+) activity (GO:0046554)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(2)	14						TCCCCAGAAAGCCAGGTTTGT	0.473																																																0			7											99.0	90.0	93.0					7																	75686807		2203	4300	6503	75524743	SO:0001583	missense	4191				CCDS5581.1, CCDS64691.1, CCDS75622.1	7q11.23	2013-09-20			ENSG00000146701	ENSG00000146701	1.1.1.37		6971	protein-coding gene	gene with protein product		154100					Standard	NM_005918		Approved		uc003ueo.3	P40926	OTTHUMG00000023827	ENST00000315758.5:c.315G>C	7.37:g.75686807G>C	ENSP00000327070:p.Lys105Asn		75524743	A8K414|B2RE78|B4DE44|E9PDB2|O43682	Missense_Mutation	SNP	superfamily_NAD(P)-bd,HMMPfam_Ldh_1_N,PatternScan_MDH,superfamily_Lactate_DH/Glyco_hydro_4_C,HMMPfam_Ldh_1_C	p.K105N	ENST00000315758.5	37	c.315	CCDS5581.1	7	.	.	.	.	.	.	.	.	.	.	G	15.36	2.811402	0.50527	.	.	ENSG00000146701	ENST00000315758;ENST00000432020	D;D	0.90385	-2.66;-2.66	5.85	-2.91	0.05631	Lactate/malate dehydrogenase, N-terminal (1);NAD(P)-binding domain (1);	0.041092	0.85682	D	0.000000	D	0.96769	0.8945	H	0.99425	4.56	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.77557	0.99;0.977	D	0.95446	0.8530	10	0.87932	D	0	-30.5468	12.0691	0.53605	0.4918:0.0:0.5082:0.0	.	105;105	E9PDB2;P40926	.;MDHM_HUMAN	N	105	ENSP00000327070:K105N;ENSP00000408649:K105N	ENSP00000327070:K105N	K	+	3	2	MDH2	75524743	0.993000	0.37304	0.988000	0.46212	0.172000	0.22775	0.403000	0.20982	-0.386000	0.07821	-1.267000	0.01435	AAG	-	superfamily_NAD(P)-bd,HMMPfam_Ldh_1_N		0.473	MDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MDH2	protein_coding	OTTHUMT00000252851.1	G			75524743	+1	no_errors	NM_005918	genbank	human	reviewed	54_36p	missense	SNP	0.992	C
AK5	26289	genome.wustl.edu	37	1	78001623	78001623	+	Missense_Mutation	SNP	T	T	C			TCGA-36-2537-01A-01D-1526-09	TCGA-36-2537-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dabd603f-bcd1-4976-a833-eec6a04af2ca	31ced69f-393b-451f-b853-95f7316fbbc7	g.chr1:78001623T>C	ENST00000354567.2	+	13	1783	c.1520T>C	c.(1519-1521)gTg>gCg	p.V507A	AK5_ENST00000344720.5_Missense_Mutation_p.V481A|AK5_ENST00000478255.1_Missense_Mutation_p.V22A	NM_174858.2	NP_777283.1	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	507	Adenylate kinase 2.|LID 2. {ECO:0000250}.				ADP biosynthetic process (GO:0006172)|ATP metabolic process (GO:0046034)|dADP biosynthetic process (GO:0006173)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|pyrimidine ribonucleotide biosynthetic process (GO:0009220)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule organizing center (GO:0005815)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside kinase activity (GO:0019206)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						AGCCTGCCTGTGGACGACACC	0.567																																																0			1											130.0	95.0	107.0					1																	78001623		2203	4300	6503	77774211	SO:0001583	missense	26289			AF062595	CCDS675.1, CCDS676.1	1p31	2008-02-05			ENSG00000154027	ENSG00000154027		"""Adenylate kinases"""	365	protein-coding gene	gene with protein product		608009				10215863	Standard	NM_012093		Approved		uc001dhn.3	Q9Y6K8	OTTHUMG00000009796	ENST00000354567.2:c.1520T>C	1.37:g.78001623T>C	ENSP00000346577:p.Val507Ala		77774211	Q5U622|Q6FH66|Q7Z4T5|Q86YS0|Q8N464|Q96EC9	Missense_Mutation	SNP	HMMPfam_Dpy-30,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_ADK,PatternScan_ADENYLATE_KINASE	p.V507A	ENST00000354567.2	37	c.1520	CCDS675.1	1	.	.	.	.	.	.	.	.	.	.	T	0.012	-1.667258	0.00765	.	.	ENSG00000154027	ENST00000354567;ENST00000344720;ENST00000478255	T;T;T	0.73152	-0.72;-0.72;-0.72	5.42	-7.98	0.01135	.	2.364200	0.01319	N	0.010889	T	0.10637	0.0260	N	0.01874	-0.695	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.11690	-1.0577	10	0.02654	T	1	-20.2877	2.5874	0.04834	0.1511:0.118:0.2607:0.4702	.	507	Q9Y6K8	KAD5_HUMAN	A	507;481;22	ENSP00000346577:V507A;ENSP00000341430:V481A;ENSP00000433915:V22A	ENSP00000341430:V481A	V	+	2	0	AK5	77774211	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.407000	0.02488	-0.970000	0.03569	-0.239000	0.12128	GTG	-	superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_ADK		0.567	AK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AK5	protein_coding	OTTHUMT00000026993.4	T	NM_174858		77774211	+1	no_errors	NM_174858	genbank	human	reviewed	54_36p	missense	SNP	0.000	C
MVD	4597	genome.wustl.edu	37	16	88722100	88722100	+	Silent	SNP	G	G	A			TCGA-36-2537-01A-01D-1526-09	TCGA-36-2537-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dabd603f-bcd1-4976-a833-eec6a04af2ca	31ced69f-393b-451f-b853-95f7316fbbc7	g.chr16:88722100G>A	ENST00000301012.3	-	6	671	c.642C>T	c.(640-642)ggC>ggT	p.G214G	MVD_ENST00000568709.1_5'Flank	NM_002461.1	NP_002452.1	P53602	MVD1_HUMAN	mevalonate (diphospho) decarboxylase	214					cellular protein metabolic process (GO:0044267)|cholesterol biosynthetic process (GO:0006695)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|isopentenyl diphosphate biosynthetic process, mevalonate pathway (GO:0019287)|isoprenoid biosynthetic process (GO:0008299)|positive regulation of cell proliferation (GO:0008284)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|diphosphomevalonate decarboxylase activity (GO:0004163)|Hsp70 protein binding (GO:0030544)|protein homodimerization activity (GO:0042803)			endometrium(3)|large_intestine(1)|lung(7)|ovary(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.0478)		TGGCCCGCATGCCCACGGTAC	0.692																																																0			16											36.0	29.0	32.0					16																	88722100		2170	4249	6419	87249601	SO:0001819	synonymous_variant	4597			U49260	CCDS10968.1	16q24.3	2010-04-29			ENSG00000167508	ENSG00000167508	4.1.1.33		7529	protein-coding gene	gene with protein product	"""mevalonate pyrophosphate decarboxylase"""	603236				8626466	Standard	NM_002461		Approved	MPD	uc002flg.1	P53602	OTTHUMG00000137865	ENST00000301012.3:c.642C>T	16.37:g.88722100G>A			87249601	Q53Y65	Silent	SNP	superfamily_Ribosomal_S5_D2-typ_fold,HMMPfam_GHMP_kinases_N,superfamily_SSF55060,HMMPfam_GHMP_kinases_C	p.G214	ENST00000301012.3	37	c.642	CCDS10968.1	16																																																																																			-	superfamily_SSF55060		0.692	MVD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MVD	protein_coding	OTTHUMT00000269547.2	G	NM_002461		87249601	-1	no_errors	NM_002461	genbank	human	reviewed	54_36p	silent	SNP	0.996	A
GNG11	2791	genome.wustl.edu	37	7	93555456	93555456	+	Silent	SNP	G	G	A			TCGA-36-2537-01A-01D-1526-09	TCGA-36-2537-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dabd603f-bcd1-4976-a833-eec6a04af2ca	31ced69f-393b-451f-b853-95f7316fbbc7	g.chr7:93555456G>A	ENST00000248564.5	+	2	589	c.150G>A	c.(148-150)gaG>gaA	p.E50E		NM_004126.3	NP_004117.1	P61952	GBG11_HUMAN	guanine nucleotide binding protein (G protein), gamma 11	50					cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|GTP catabolic process (GO:0006184)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	GTPase activity (GO:0003924)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|kidney(1)|lung(2)|skin(1)	6	all_cancers(62;2.39e-10)|all_epithelial(64;1.54e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			GTTCTGGAGAGGATCCTCTAG	0.338																																																0			7											81.0	89.0	87.0					7																	93555456		2203	4299	6502	93393392	SO:0001819	synonymous_variant	2791				CCDS5634.1	7q31-q32	2008-07-18			ENSG00000127920	ENSG00000127920			4403	protein-coding gene	gene with protein product	"""G protein gamma-11 subunit"", ""guanine nucleotide-binding protein G(I)/G(S)/G(O) gamma-11 subunit"""	604390				7665596	Standard	NM_004126		Approved	GNGT11	uc003und.3	P61952	OTTHUMG00000023411	ENST00000248564.5:c.150G>A	7.37:g.93555456G>A			93393392	P50152	Silent	SNP	superfamily_Transducin (heterotrimeric G protein) gamma chain,HMMPfam_G-gamma,HMMSmart_SM00224	p.E50	ENST00000248564.5	37	c.150	CCDS5634.1	7																																																																																			-	superfamily_Transducin (heterotrimeric G protein) gamma chain,HMMPfam_G-gamma,HMMSmart_SM00224		0.338	GNG11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNG11	protein_coding	OTTHUMT00000254719.3	G	NM_004126		93393392	+1	no_errors	NM_004126	genbank	human	reviewed	54_36p	silent	SNP	0.998	A
GSC	145258	genome.wustl.edu	37	14	95236245	95236245	+	Silent	SNP	C	C	T	rs191352872	byFrequency	TCGA-36-2537-01A-01D-1526-09	TCGA-36-2537-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dabd603f-bcd1-4976-a833-eec6a04af2ca	31ced69f-393b-451f-b853-95f7316fbbc7	g.chr14:95236245C>T	ENST00000238558.3	-	1	317	c.108G>A	c.(106-108)ccG>ccA	p.P36P		NM_173849.2	NP_776248.1	P56915	GSC_HUMAN	goosecoid homeobox	36					dorsal/ventral neural tube patterning (GO:0021904)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|gastrulation (GO:0007369)|middle ear morphogenesis (GO:0042474)|muscle organ morphogenesis (GO:0048644)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|neural crest cell fate specification (GO:0014036)|signal transduction involved in regulation of gene expression (GO:0023019)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)			skin(1)	1		all_cancers(154;0.0896)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.202)|Epithelial(152;0.239)		CGTGCAGGGCCGGGAAGACGA	0.746													C|||	87	0.0173722	0.0514	0.013	5008	,	,		9647	0.0		0.0089	False		,,,				2504	0.001				Pancreas(105;2165 2186 4892 18008)											0			14											2.0	3.0	2.0					14																	95236245		1405	2884	4289	94305998	SO:0001819	synonymous_variant	145258				CCDS9930.1	14q32.13	2011-06-20	2007-07-11			ENSG00000133937		"""Homeoboxes / PRD class"""	4612	protein-coding gene	gene with protein product		138890				7916327	Standard	NM_173849		Approved		uc001ydu.3	P56915		ENST00000238558.3:c.108G>A	14.37:g.95236245C>T			94305998	Q86YR1	Silent	SNP	superfamily_Homeodomain_like,HMMSmart_HOX,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1	p.P36	ENST00000238558.3	37	c.108	CCDS9930.1	14																																																																																			-	NULL		0.746	GSC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSC	protein_coding	OTTHUMT00000410746.1	C			94305998	-1	no_errors	NM_173849	genbank	human	reviewed	54_36p	silent	SNP	1.000	T
ABCD3	5825	genome.wustl.edu	37	1	94946050	94946050	+	Missense_Mutation	SNP	G	G	A			TCGA-36-2537-01A-01D-1526-09	TCGA-36-2537-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dabd603f-bcd1-4976-a833-eec6a04af2ca	31ced69f-393b-451f-b853-95f7316fbbc7	g.chr1:94946050G>A	ENST00000370214.4	+	9	739	c.715G>A	c.(715-717)Gtt>Att	p.V239I	ABCD3_ENST00000536817.1_Missense_Mutation_p.V166I|ABCD3_ENST00000394233.2_Missense_Mutation_p.V239I|ABCD3_ENST00000454898.2_Missense_Mutation_p.V263I	NM_002858.3	NP_002849.1	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D (ALD), member 3	239	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				ATP catabolic process (GO:0006200)|fatty acid beta-oxidation (GO:0006635)|peroxisome organization (GO:0007031)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		CTACTTGGTTGTTTCTGGGCT	0.378																																																0			1											116.0	112.0	113.0					1																	94946050		2203	4300	6503	94718638	SO:0001583	missense	5825			M81182	CCDS749.1, CCDS44175.1	1p21.3	2012-05-16			ENSG00000117528	ENSG00000117528		"""ATP binding cassette transporters / subfamily D"""	67	protein-coding gene	gene with protein product		170995		PXMP1		1301993, 8449508	Standard	NM_002858		Approved	PMP70, ZWS2	uc001dqn.4	P28288	OTTHUMG00000010717	ENST00000370214.4:c.715G>A	1.37:g.94946050G>A	ENSP00000359233:p.Val239Ile		94718638	D3DT46|Q15271|Q6NUN5|Q96DA3|Q9H529	Missense_Mutation	SNP	superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain,HMMPfam_ABC_membrane_2,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_ABC_tran,PatternScan_ABC_TRANSPORTER_1	p.V239I	ENST00000370214.4	37	c.715	CCDS749.1	1	.	.	.	.	.	.	.	.	.	.	G	6.977	0.550235	0.13374	.	.	ENSG00000117528	ENST00000394233;ENST00000454898;ENST00000536817;ENST00000370214	D;D;D;D	0.94232	-3.38;-3.38;-3.38;-3.38	5.13	0.637	0.17735	ABC transporter, N-terminal (1);ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);	0.326514	0.32028	N	0.006693	T	0.63522	0.2518	N	0.04260	-0.245	0.38981	D	0.958953	B;B;B	0.27316	0.002;0.175;0.001	B;B;B	0.22386	0.006;0.039;0.006	T	0.55939	-0.8061	10	0.10111	T	0.7	-2.7059	5.8358	0.18607	0.3964:0.0:0.4825:0.121	.	263;239;239	E7EUE1;P28288-2;P28288	.;.;ABCD3_HUMAN	I	239;263;166;239	ENSP00000377780:V239I;ENSP00000403357:V263I;ENSP00000440692:V166I;ENSP00000359233:V239I	ENSP00000359233:V239I	V	+	1	0	ABCD3	94718638	1.000000	0.71417	0.844000	0.33320	0.998000	0.95712	0.632000	0.24583	0.151000	0.19162	0.650000	0.86243	GTT	-	superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain,HMMPfam_ABC_membrane_2		0.378	ABCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCD3	protein_coding	OTTHUMT00000029597.1	G	NM_002858		94718638	+1	no_errors	NM_002858	genbank	human	reviewed	54_36p	missense	SNP	0.982	A
ARMCX6	54470	genome.wustl.edu	37	X	100871176	100871176	+	Silent	SNP	C	C	G			TCGA-36-2537-01A-01D-1526-09	TCGA-36-2537-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dabd603f-bcd1-4976-a833-eec6a04af2ca	31ced69f-393b-451f-b853-95f7316fbbc7	g.chrX:100871176C>G	ENST00000361910.4	-	3	779	c.435G>C	c.(433-435)gcG>gcC	p.A145A	ARMCX6_ENST00000497931.1_Intron|ARMCX6_ENST00000538627.1_Silent_p.A145A|ARMCX6_ENST00000539247.1_Silent_p.A145A	NM_019007.3	NP_061880.2	Q7L4S7	ARMX6_HUMAN	armadillo repeat containing, X-linked 6	145						integral component of membrane (GO:0016021)				endometrium(3)|kidney(1)|liver(2)|lung(3)	9						ATGGAAAGCCCGCATCCTTGG	0.483																																																0			X											35.0	39.0	37.0					X																	100871176		2194	4289	6483	100757832	SO:0001819	synonymous_variant	54470			BC007677	CCDS14488.1	Xq21.33-q22.3	2014-03-21			ENSG00000198960	ENSG00000198960		"""Armadillo repeat containing"""	26094	protein-coding gene	gene with protein product						16221301, 22569362	Standard	NM_001184768		Approved	FLJ20811, GASP10	uc004ehy.3	Q7L4S7	OTTHUMG00000022034	ENST00000361910.4:c.435G>C	X.37:g.100871176C>G			100757832	Q9NWJ3	Silent	SNP	HMMPfam_DUF634	p.A145	ENST00000361910.4	37	c.435	CCDS14488.1	X																																																																																			-	HMMPfam_DUF634		0.483	ARMCX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARMCX6	protein_coding	OTTHUMT00000057562.1	C	NM_019007		100757832	-1	no_errors	NM_001009584	genbank	human	validated	54_36p	silent	SNP	0.002	G
LAMTOR5	10542	genome.wustl.edu	37	1	110950282	110950282	+	5'UTR	SNP	G	G	C	rs143658007	byFrequency	TCGA-36-2537-01A-01D-1526-09	TCGA-36-2537-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dabd603f-bcd1-4976-a833-eec6a04af2ca	31ced69f-393b-451f-b853-95f7316fbbc7	g.chr1:110950282G>C	ENST00000602318.1	-	0	48				LAMTOR5-AS1_ENST00000609244.1_RNA|LAMTOR5_ENST00000256644.4_Silent_p.A69A|LAMTOR5_ENST00000474861.2_5'UTR|LAMTOR5-AS1_ENST00000608602.1_RNA|LAMTOR5-AS1_ENST00000587691.1_RNA|LAMTOR5_ENST00000602858.1_5'Flank|LAMTOR5_ENST00000483260.1_5'UTR|LAMTOR5-AS1_ENST00000590413.1_RNA|LAMTOR5-AS1_ENST00000608499.1_RNA|LAMTOR5-AS1_ENST00000457535.1_RNA|LAMTOR5-AS1_ENST00000608067.1_RNA|LAMTOR5-AS1_ENST00000608486.1_RNA|LAMTOR5-AS1_ENST00000590826.1_RNA|LAMTOR5-AS1_ENST00000609512.1_RNA|LAMTOR5-AS1_ENST00000610148.1_RNA|LAMTOR5-AS1_ENST00000608253.1_RNA|LAMTOR5-AS1_ENST00000598454.1_RNA|LAMTOR5-AS1_ENST00000609709.1_RNA			O43504	LTOR5_HUMAN	late endosomal/lysosomal adaptor, MAPK and MTOR activator 5						cellular response to amino acid stimulus (GO:0071230)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of GTPase activity (GO:0043547)|positive regulation of TOR signaling (GO:0032008)|protein localization to lysosome (GO:0061462)|regulation of cell size (GO:0008361)|response to virus (GO:0009615)|viral genome replication (GO:0019079)	cytosol (GO:0005829)|lysosome (GO:0005764)|Ragulator complex (GO:0071986)		p.A69A(1)									CCAGCGGCACGGCACGTCCTT	0.632													G|||	31	0.0061901	0.0227	0.0014	5008	,	,		16802	0.0		0.0	False		,,,				2504	0.0															1	Substitution - coding silent(1)	prostate(1)	1						G		66,4340	61.1+/-98.1	1,64,2138	80.0	66.0	71.0		207	-5.9	0.0	1	dbSNP_134	71	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	HBXIP	NM_006402.2		1,66,6436	CC,CG,GG		0.0233,1.498,0.5228		69/174	110950282	68,12938	2203	4300	6503	110751805	SO:0001623	5_prime_UTR_variant	10542			AF029890	CCDS824.1	1p12	2012-09-24	2012-09-24	2012-09-24	ENSG00000134248	ENSG00000134248			17955	protein-coding gene	gene with protein product	"""HBx-interacting protein"", ""hepatitis B virus x-interacting protein (9.6kD)"""	608521	"""hepatitis B virus x interacting protein"""	HBXIP		9499022, 22980980	Standard	NM_006402		Approved	XIP, MGC71071	uc001dzr.3	O43504	OTTHUMG00000011568	ENST00000602318.1:c.-40C>G	1.37:g.110950282G>C			110751805	Q6IBD8	Silent	SNP	NULL	p.A69	ENST00000602318.1	37	c.207		1																																																																																			-	NULL		0.632	LAMTOR5-007	NOVEL	basic|appris_principal	protein_coding	HBXIP	protein_coding	OTTHUMT00000467909.1	G	NM_006402		110751805	-1	no_errors	NM_006402	genbank	human	reviewed	54_36p	silent	SNP	0.000	C
CFAP44	55779	genome.wustl.edu	37	3	113128097	113128097	+	Missense_Mutation	SNP	T	T	C			TCGA-36-2537-01A-01D-1526-09	TCGA-36-2537-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dabd603f-bcd1-4976-a833-eec6a04af2ca	31ced69f-393b-451f-b853-95f7316fbbc7	g.chr3:113128097T>C	ENST00000295868.2	-	7	908	c.746A>G	c.(745-747)aAc>aGc	p.N249S	WDR52_ENST00000393845.2_Missense_Mutation_p.N249S|WDR52-AS1_ENST00000473329.1_RNA|WDR52-AS1_ENST00000498480.1_RNA	NM_018338.3	NP_060808.2														breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						GTAGTCAGGGTTACTACCAAC	0.408																																																0			3											138.0	131.0	133.0					3																	113128097		2203	4300	6503	114610787	SO:0001583	missense	55779																														ENST00000295868.2:c.746A>G	3.37:g.113128097T>C	ENSP00000295868:p.Asn249Ser		114610787		Missense_Mutation	SNP	superfamily_WD40_like,HMMSmart_WD40,HMMPfam_WD40,PatternScan_WD_REPEATS_1	p.N249S	ENST00000295868.2	37	c.746	CCDS2972.1	3	.	.	.	.	.	.	.	.	.	.	T	0.408	-0.915016	0.02415	.	.	ENSG00000206530	ENST00000393845;ENST00000295868	T;T	0.66099	-0.19;1.13	6.04	-10.5	0.00291	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	.	.	.	.	T	0.19565	0.0470	N	0.00197	-1.87	0.09310	N	0.999991	B	0.06786	0.001	B	0.04013	0.001	T	0.51787	-0.8661	9	0.07644	T	0.81	.	17.1494	0.86774	0.0:0.7068:0.1712:0.122	.	249	Q96MT7	WDR52_HUMAN	S	249	ENSP00000377428:N249S;ENSP00000295868:N249S	ENSP00000295868:N249S	N	-	2	0	WDR52	114610787	0.091000	0.21658	0.001000	0.08648	0.407000	0.30961	-0.522000	0.06237	-2.084000	0.00866	0.460000	0.39030	AAC	-	superfamily_WD40_like,HMMSmart_WD40		0.408	WDR52-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	WDR52	protein_coding	OTTHUMT00000354128.3	T			114610787	-1	no_errors	NM_018338	genbank	human	provisional	54_36p	missense	SNP	0.145	C
HABP2	3026	genome.wustl.edu	37	10	115348774	115348774	+	3'UTR	SNP	T	T	A			TCGA-36-2537-01A-01D-1526-09	TCGA-36-2537-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dabd603f-bcd1-4976-a833-eec6a04af2ca	31ced69f-393b-451f-b853-95f7316fbbc7	g.chr10:115348774T>A	ENST00000351270.3	+	0	2425				NRAP_ENST00000359988.3_Missense_Mutation_p.E1718V|NRAP_ENST00000369358.4_Missense_Mutation_p.E1726V|HABP2_ENST00000542051.1_3'UTR|NRAP_ENST00000360478.3_Missense_Mutation_p.E1683V|NRAP_ENST00000369360.3_Missense_Mutation_p.E1691V	NM_004132.3	NP_004123.1	Q14520	HABP2_HUMAN	hyaluronan binding protein 2						cell adhesion (GO:0007155)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	glycosaminoglycan binding (GO:0005539)|serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)	Hyaluronan(DB08818)	GTGCAGAATCTCAGTGGCATC	0.522																																																0			10											175.0	162.0	167.0					10																	115348774		2203	4300	6503	115338764	SO:0001624	3_prime_UTR_variant	4892				CCDS7577.1, CCDS53579.1	10q25.3	2008-08-01	2001-11-28		ENSG00000148702	ENSG00000148702			4798	protein-coding gene	gene with protein product	"""plasma hyaluronan binding protein"", ""factor VII activating protein"""	603924	"""hyaluronan-binding protein 2"""			8827452, 12437095	Standard	NM_004132		Approved	HABP, PHBP, HGFAL, FSAP	uc001lai.4	Q14520	OTTHUMG00000019073	ENST00000351270.3:c.*646T>A	10.37:g.115348774T>A			115338764	A8K467|B7Z8U5|F5H5M6|O00663	Missense_Mutation	SNP	HMMSmart_SM00132,superfamily_Glucocorticoid receptor-like (DNA-binding domain),PatternScan_LIM_DOMAIN_1,HMMPfam_LIM,HMMSmart_SM00227,HMMPfam_Nebulin	p.E1718V	ENST00000351270.3	37	c.5153	CCDS7577.1	10	.	.	.	.	.	.	.	.	.	.	T	23.4	4.413691	0.83449	.	.	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478;ENST00000369350	T;T;T;T	0.26957	1.95;1.95;1.79;1.7	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.48786	0.1519	M	0.64997	1.995	0.51233	D	0.999915	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.998;0.999;0.998	T	0.49331	-0.8951	10	0.72032	D	0.01	.	14.4789	0.67567	0.0:0.0:0.0:1.0	.	840;1719;1683;1718	B1ANW7;A0AVL2;Q86VF7-4;Q86VF7	.;.;.;NRAP_HUMAN	V	1726;1691;1718;1683;840	ENSP00000358365:E1726V;ENSP00000358367:E1691V;ENSP00000353078:E1718V;ENSP00000353666:E1683V	ENSP00000353078:E1718V	E	-	2	0	NRAP	115338764	1.000000	0.71417	0.996000	0.52242	0.778000	0.44026	6.566000	0.73978	2.159000	0.67721	0.454000	0.30748	GAG	-	NULL		0.522	HABP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRAP	protein_coding	OTTHUMT00000050428.1	T	NM_004132		115338764	-1	no_errors	NM_198060	genbank	human	validated	54_36p	missense	SNP	1.000	A
TMEM155	132332	genome.wustl.edu	37	4	122681608	122681608	+	Silent	SNP	G	G	A			TCGA-36-2537-01A-01D-1526-09	TCGA-36-2537-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dabd603f-bcd1-4976-a833-eec6a04af2ca	31ced69f-393b-451f-b853-95f7316fbbc7	g.chr4:122681608G>A	ENST00000337677.5	-	6	792	c.234C>T	c.(232-234)agC>agT	p.S78S	TMEM155_ENST00000394394.1_Silent_p.S78S|TMEM155_ENST00000394396.1_Silent_p.S78S	NM_152399.2	NP_689612.2	Q4W5P6	TM155_HUMAN	transmembrane protein 155	78						extracellular region (GO:0005576)				breast(1)|lung(5)	6						cttgtggggtgctgcggggac	0.527																																																0			4											39.0	35.0	37.0					4																	122681608		2127	4141	6268	122901058	SO:0001819	synonymous_variant	132332			AK055396	CCDS3721.1	4q27	2008-02-05			ENSG00000164112	ENSG00000164112			26418	protein-coding gene	gene with protein product							Standard	NM_152399		Approved	FLJ30834	uc003idx.1	Q4W5P6	OTTHUMG00000133035	ENST00000337677.5:c.234C>T	4.37:g.122681608G>A			122901058	D3DNW9|Q96NI2	Silent	SNP	NULL	p.S78	ENST00000337677.5	37	c.234	CCDS3721.1	4																																																																																			-	NULL		0.527	TMEM155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM155	protein_coding	OTTHUMT00000256637.2	G	NM_152399		122901058	-1	no_errors	NM_152399	genbank	human	validated	54_36p	silent	SNP	0.001	A
PIK3R4	30849	genome.wustl.edu	37	3	130398309	130398309	+	Missense_Mutation	SNP	T	T	G			TCGA-36-2537-01A-01D-1526-09	TCGA-36-2537-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dabd603f-bcd1-4976-a833-eec6a04af2ca	31ced69f-393b-451f-b853-95f7316fbbc7	g.chr3:130398309T>G	ENST00000356763.3	-	20	4484	c.3927A>C	c.(3925-3927)aaA>aaC	p.K1309N	PIK3R4_ENST00000512677.1_5'Flank	NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	1309					innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						TTGGTCCTACTTTCTGCTTAT	0.493																																																0			3											143.0	143.0	143.0					3																	130398309		2203	4300	6503	131880999	SO:0001583	missense	30849			Y08991	CCDS3067.1	3q22.1	2013-01-10	2008-02-04		ENSG00000196455	ENSG00000196455		"""WD repeat domain containing"""	8982	protein-coding gene	gene with protein product		602610				8999962	Standard	NM_014602		Approved	VPS15, p150	uc003enj.3	Q99570	OTTHUMG00000159645	ENST00000356763.3:c.3927A>C	3.37:g.130398309T>G	ENSP00000349205:p.Lys1309Asn		131880999	Q2TBF4	Missense_Mutation	SNP	PatternScan_PROTEIN_KINASE_ATP,superfamily_Kinase_like,HMMPfam_Pkinase_Tyr,PatternScan_PROTEIN_KINASE_ST,superfamily_ARM-type_fold,HMMPfam_HEAT,superfamily_WD40_like,HMMSmart_WD40,HMMPfam_WD40,PatternScan_WD_REPEATS_1	p.K1309N	ENST00000356763.3	37	c.3927	CCDS3067.1	3	.	.	.	.	.	.	.	.	.	.	T	9.388	1.074727	0.20227	.	.	ENSG00000196455	ENST00000356763	T	0.05925	3.37	5.37	0.416	0.16416	WD40 repeat-like-containing domain (1);	0.047231	0.85682	D	0.000000	T	0.04137	0.0115	L	0.40543	1.245	0.42082	D	0.991258	B	0.30686	0.29	B	0.18263	0.021	T	0.51076	-0.8751	10	0.17369	T	0.5	-26.3514	7.2802	0.26308	0.0:0.4084:0.113:0.4786	.	1309	Q99570	PI3R4_HUMAN	N	1309	ENSP00000349205:K1309N	ENSP00000349205:K1309N	K	-	3	2	PIK3R4	131880999	0.471000	0.25862	0.563000	0.28383	0.804000	0.45430	-0.074000	0.11450	-0.220000	0.09988	-0.415000	0.06103	AAA	-	superfamily_WD40_like		0.493	PIK3R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3R4	protein_coding	OTTHUMT00000356668.1	T	NM_014602		131880999	-1	no_errors	NM_014602	genbank	human	validated	54_36p	missense	SNP	0.971	G
KCNQ3	3786	genome.wustl.edu	37	8	133144484	133144484	+	Silent	SNP	G	G	T			TCGA-36-2537-01A-01D-1526-09	TCGA-36-2537-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dabd603f-bcd1-4976-a833-eec6a04af2ca	31ced69f-393b-451f-b853-95f7316fbbc7	g.chr8:133144484G>T	ENST00000388996.4	-	14	2247	c.1827C>A	c.(1825-1827)tcC>tcA	p.S609S	KCNQ3_ENST00000521134.1_Silent_p.S489S|KCNQ3_ENST00000519445.1_Silent_p.S597S	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	609					axon guidance (GO:0007411)|membrane hyperpolarization (GO:0060081)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	TTTCTGATGTGGATGGTCTGG	0.388																																																0			8											149.0	140.0	143.0					8																	133144484		2203	4300	6503	133213666	SO:0001819	synonymous_variant	3786			AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6297	protein-coding gene	gene with protein product		602232		EBN2		9425900, 16382104	Standard	NM_004519		Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.1827C>A	8.37:g.133144484G>T			133213666	A2VCT8|B4DJY4|E7EQ89	Silent	SNP	superfamily_SSF81324,HMMPfam_Ion_trans,HMMPfam_KCNQ_channel	p.S609	ENST00000388996.4	37	c.1827	CCDS34943.1	8																																																																																			-	HMMPfam_KCNQ_channel		0.388	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNQ3	protein_coding	OTTHUMT00000268621.2	G	NM_004519		133213666	-1	no_errors	NM_004519	genbank	human	reviewed	54_36p	silent	SNP	0.999	T
MAP3K19	80122	genome.wustl.edu	37	2	135745642	135745642	+	Missense_Mutation	SNP	G	G	A			TCGA-36-2537-01A-01D-1526-09	TCGA-36-2537-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dabd603f-bcd1-4976-a833-eec6a04af2ca	31ced69f-393b-451f-b853-95f7316fbbc7	g.chr2:135745642G>A	ENST00000375845.3	-	7	830	c.800C>T	c.(799-801)gCc>gTc	p.A267V	MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000392915.1_Missense_Mutation_p.A284V|MAP3K19_ENST00000358371.4_Missense_Mutation_p.A154V|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000392917.3_Intron	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	267							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										CTTAACTAGGGCTCCCGGAGG	0.458																																																0			2											81.0	85.0	84.0					2																	135745642		2203	4300	6503	135462112	SO:0001583	missense	80122			AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	26249	protein-coding gene	gene with protein product			"""Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"""	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.800C>T	2.37:g.135745642G>A	ENSP00000365005:p.Ala267Val		135462112	B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Missense_Mutation	SNP	superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST	p.A267V	ENST00000375845.3	37	c.800	CCDS2176.2	2	.	.	.	.	.	.	.	.	.	.	G	2.061	-0.415448	0.04766	.	.	ENSG00000176601	ENST00000375845;ENST00000358371;ENST00000392915	T;T;T	0.67865	-0.29;-0.29;2.07	4.95	2.71	0.32032	.	0.372870	0.19575	N	0.111009	T	0.42268	0.1195	N	0.22421	0.69	0.09310	N	0.999997	B;B;B	0.23377	0.084;0.041;0.051	B;B;B	0.21917	0.037;0.022;0.016	T	0.13229	-1.0517	10	0.16896	T	0.51	.	0.7798	0.01038	0.228:0.1438:0.3933:0.2349	.	154;284;267	Q56UN5-3;A8MWG7;Q56UN5	.;.;YSK4_HUMAN	V	267;154;284	ENSP00000365005:A267V;ENSP00000351140:A154V;ENSP00000376647:A284V	ENSP00000351140:A154V	A	-	2	0	YSK4	135462112	0.002000	0.14202	0.053000	0.19242	0.005000	0.04900	0.335000	0.19806	0.436000	0.26393	0.650000	0.86243	GCC	-	NULL		0.458	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	YSK4	protein_coding	OTTHUMT00000158244.1	G	NM_025052		135462112	-1	no_errors	NM_025052	genbank	human	validated	54_36p	missense	SNP	0.009	A
SLC45A4	57210	genome.wustl.edu	37	8	142229919	142229919	+	Missense_Mutation	SNP	A	A	G			TCGA-36-2537-01A-01D-1526-09	TCGA-36-2537-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dabd603f-bcd1-4976-a833-eec6a04af2ca	31ced69f-393b-451f-b853-95f7316fbbc7	g.chr8:142229919A>G	ENST00000024061.3	-	3	594	c.287T>C	c.(286-288)cTc>cCc	p.L96P	SLC45A4_ENST00000519067.1_Missense_Mutation_p.L96P|SLC45A4_ENST00000433583.2_Missense_Mutation_p.L89P|SLC45A4_ENST00000517878.1_Missense_Mutation_p.L147P	NM_001080431.1	NP_001073900.1	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4						transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			GACATCGCCGAGGGCCAGACC	0.667																																																0			8											39.0	28.0	31.0					8																	142229919		2189	4293	6482	142299101	SO:0001583	missense	57210			AB032952	CCDS34948.1, CCDS69550.1, CCDS75795.1	8q24.3	2013-05-22						"""Solute carriers"""	29196	protein-coding gene	gene with protein product							Standard	NM_001080431		Approved	KIAA1126	uc003ywd.1	Q5BKX6		ENST00000024061.3:c.287T>C	8.37:g.142229919A>G	ENSP00000024061:p.Leu96Pro		142299101	Q6ZRI2|Q9ULU3	Missense_Mutation	SNP	HMMPfam_MFS_1,superfamily_MFS general substrate transporter	p.L96P	ENST00000024061.3	37	c.287	CCDS34948.1	8	.	.	.	.	.	.	.	.	.	.	A	25.2	4.611155	0.87258	.	.	ENSG00000022567	ENST00000519067;ENST00000517878;ENST00000433583;ENST00000024061;ENST00000519986	D;D;D;D;D	0.93488	-3.23;-3.23;-3.23;-3.23;-3.23	5.49	5.49	0.81192	.	0.154041	0.56097	D	0.000022	D	0.96349	0.8809	M	0.78637	2.42	0.80722	D	1	D;D;P	0.69078	0.997;0.996;0.902	D;D;D	0.68483	0.958;0.945;0.926	D	0.96897	0.9657	10	0.87932	D	0	-43.4976	15.5816	0.76448	1.0:0.0:0.0:0.0	.	147;96;96	E7EV90;Q5BKX6-3;Q5BKX6-2	.;.;.	P	96;147;89;96;78	ENSP00000429059:L96P;ENSP00000428137:L147P;ENSP00000400799:L89P;ENSP00000024061:L96P;ENSP00000429974:L78P	ENSP00000024061:L96P	L	-	2	0	SLC45A4	142299101	1.000000	0.71417	0.998000	0.56505	0.866000	0.49608	8.673000	0.91186	2.079000	0.62486	0.460000	0.39030	CTC	-	HMMPfam_MFS_1,superfamily_MFS general substrate transporter		0.667	SLC45A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC45A4	protein_coding	OTTHUMT00000378571.3	A	XM_050325		142299101	-1	no_errors	NM_001080431	genbank	human	provisional	54_36p	missense	SNP	1.000	G
SLC9A9	285195	genome.wustl.edu	37	3	143212562	143212562	+	Silent	SNP	G	G	A			TCGA-36-2537-01A-01D-1526-09	TCGA-36-2537-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dabd603f-bcd1-4976-a833-eec6a04af2ca	31ced69f-393b-451f-b853-95f7316fbbc7	g.chr3:143212562G>A	ENST00000316549.6	-	11	1456	c.1248C>T	c.(1246-1248)tcC>tcT	p.S416S		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	416					ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|recycling endosome (GO:0055037)	sodium:proton antiporter activity (GO:0015385)			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						TCAGGAGGAAGGAGAGGGGAT	0.428																																																0			3											141.0	138.0	139.0					3																	143212562		2203	4300	6503	144695252	SO:0001819	synonymous_variant	285195			AY254100	CCDS33872.1	3q23-q24	2014-01-28	2012-03-22		ENSG00000181804	ENSG00000181804		"""Solute carriers"""	20653	protein-coding gene	gene with protein product		608396	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 9"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 9"""			14569117	Standard	NM_173653		Approved	FLJ35613, NHE9	uc003evn.3	Q8IVB4	OTTHUMG00000159373	ENST00000316549.6:c.1248C>T	3.37:g.143212562G>A			144695252	A6NMQ9|Q3LIC2|Q5JPI6|Q5WA58|Q8NAB9	Silent	SNP	HMMPfam_Na_H_Exchanger	p.S416	ENST00000316549.6	37	c.1248	CCDS33872.1	3																																																																																			-	HMMPfam_Na_H_Exchanger		0.428	SLC9A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A9	protein_coding	OTTHUMT00000354994.1	G	NM_173653		144695252	-1	no_errors	NM_173653	genbank	human	validated	54_36p	silent	SNP	1.000	A
GABRA1	2554	genome.wustl.edu	37	5	161302625	161302625	+	Missense_Mutation	SNP	C	C	G			TCGA-36-2537-01A-01D-1526-09	TCGA-36-2537-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dabd603f-bcd1-4976-a833-eec6a04af2ca	31ced69f-393b-451f-b853-95f7316fbbc7	g.chr5:161302625C>G	ENST00000428797.2	+	7	891	c.536C>G	c.(535-537)gCt>gGt	p.A179G	GABRA1_ENST00000023897.6_Missense_Mutation_p.A179G|GABRA1_ENST00000420560.1_Missense_Mutation_p.A179G|GABRA1_ENST00000393943.4_Missense_Mutation_p.A179G|GABRA1_ENST00000437025.2_Missense_Mutation_p.A179G|GABRA1_ENST00000444819.1_Missense_Mutation_p.A179G	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	179					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|drug binding (GO:0008144)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zaleplon(DB00962)|Zolpidem(DB00425)|Zopiclone(DB01198)	GATGCCCATGCTTGCCCACTA	0.383																																																0			5											171.0	169.0	170.0					5																	161302625		2203	4300	6503	161235203	SO:0001583	missense	2554				CCDS4357.1	5q34	2012-06-22			ENSG00000022355	ENSG00000022355		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4075	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 1"""	137160				1330891	Standard	NM_000806		Approved	EJM5	uc003lyx.4	P14867	OTTHUMG00000163586	ENST00000428797.2:c.536C>G	5.37:g.161302625C>G	ENSP00000393097:p.Ala179Gly		161235203	D3DQK6|Q8N629	Missense_Mutation	SNP	superfamily_Neur_chan_LBD,HMMPfam_Neur_chan_LBD,PatternScan_NEUROTR_ION_CHANNEL,superfamily_Neu_channel_TM,HMMPfam_Neur_chan_memb	p.A179G	ENST00000428797.2	37	c.536	CCDS4357.1	5	.	.	.	.	.	.	.	.	.	.	C	29.2	4.987914	0.93106	.	.	ENSG00000022355	ENST00000023897;ENST00000428797;ENST00000393943;ENST00000437025;ENST00000420560;ENST00000444819	T;T;T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27;-1.27;-1.27	5.19	5.19	0.71726	Neurotransmitter-gated ion-channel ligand-binding (3);Neurotransmitter-gated ion-channel, conserved site (1);	0.173652	0.49916	D	0.000122	D	0.87055	0.6082	M	0.85945	2.785	0.80722	D	1	P	0.42584	0.784	P	0.51657	0.676	D	0.88603	0.3151	10	0.66056	D	0.02	.	19.094	0.93242	0.0:1.0:0.0:0.0	.	179	P14867	GBRA1_HUMAN	G	179	ENSP00000023897:A179G;ENSP00000393097:A179G;ENSP00000377517:A179G;ENSP00000415441:A179G;ENSP00000408041:A179G;ENSP00000414232:A179G	ENSP00000023897:A179G	A	+	2	0	GABRA1	161235203	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.723000	0.84788	2.595000	0.87683	0.650000	0.86243	GCT	-	superfamily_Neur_chan_LBD,HMMPfam_Neur_chan_LBD,PatternScan_NEUROTR_ION_CHANNEL		0.383	GABRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRA1	protein_coding	OTTHUMT00000252702.2	C	NM_000806.5		161235203	+1	no_errors	NM_000806	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
ZFP42	132625	genome.wustl.edu	37	4	188924559	188924559	+	Missense_Mutation	SNP	A	A	T			TCGA-36-2537-01A-01D-1526-09	TCGA-36-2537-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dabd603f-bcd1-4976-a833-eec6a04af2ca	31ced69f-393b-451f-b853-95f7316fbbc7	g.chr4:188924559A>T	ENST00000326866.4	+	4	1006	c.598A>T	c.(598-600)Agg>Tgg	p.R200W	ZFP42_ENST00000509524.1_Missense_Mutation_p.R200W	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	200					female gonad development (GO:0008585)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|meiotic nuclear division (GO:0007126)|regulation of genetic imprinting (GO:2000653)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		TAGGAAGTTGAGGAATAGAGC	0.483																																																0			4											117.0	121.0	120.0					4																	188924559		2203	4300	6503	189161553	SO:0001583	missense	132625			AK056719	CCDS3849.1	4q35.2	2014-09-04	2012-11-27		ENSG00000179059	ENSG00000179059		"""Zinc fingers, C2H2-type"""	30949	protein-coding gene	gene with protein product		614572	"""zinc finger protein 42 homolog (mouse)"", ""zinc finger protein 42"""			12110702	Standard	NM_174900		Approved	REX1, ZNF754	uc003izh.1	Q96MM3	OTTHUMG00000160235	ENST00000326866.4:c.598A>T	4.37:g.188924559A>T	ENSP00000317686:p.Arg200Trp		189161553	D3DP65|Q8WXE2	Missense_Mutation	SNP	superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_zf-C2H2	p.R200W	ENST00000326866.4	37	c.598	CCDS3849.1	4	.	.	.	.	.	.	.	.	.	.	A	18.77	3.695494	0.68386	.	.	ENSG00000179059	ENST00000326866;ENST00000509524	T;T	0.12984	2.63;2.63	4.39	1.84	0.25277	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.110966	0.64402	D	0.000019	T	0.27384	0.0672	L	0.53780	1.695	0.31488	N	0.666326	D	0.71674	0.998	D	0.69824	0.966	T	0.14559	-1.0468	10	0.66056	D	0.02	.	9.8504	0.41053	0.6703:0.3297:0.0:0.0	.	200	Q96MM3	ZFP42_HUMAN	W	200	ENSP00000317686:R200W;ENSP00000424662:R200W	ENSP00000317686:R200W	R	+	1	2	ZFP42	189161553	1.000000	0.71417	0.002000	0.10522	0.008000	0.06430	3.945000	0.56637	0.416000	0.25844	0.533000	0.62120	AGG	-	superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1		0.483	ZFP42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP42	protein_coding	OTTHUMT00000359794.1	A	NM_174900		189161553	+1	no_errors	NM_174900	genbank	human	validated	54_36p	missense	SNP	0.998	T
