#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	T	T	C			TCGA-29-1698-01A-01W-0633-09	TCGA-29-1698-10A-01W-0633-09	T	T					Unknown	Invalid:failed_liftOver	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13d549f0-e884-484c-9c42-0e030a751d83	7066096f-fff7-4e26-822c-93b3c5d7e795	g.chrUnknown:0T>C								None (None upstream) : None (None downstream)																								0.0																																																0			MT																																								10072	SO:0001628	intergenic_variant	4537																															Unknown.37:g.0T>C			10072		Silent	SNP	HMMPfam_Oxidored_q4	p.L5		37	c.13		MT																																																																																			-	NULL	0	0					MT-ND3			T			10072	+1	no_stop_codon:bad_bp_length_for_coding_region	ENST00000361227	ensembl	human	known	54_36p	silent	SNP	NULL	C
Unknown	0	genome.wustl.edu	37	Unknown	0	0	+	IGR	SNP	T	T	C			TCGA-29-1698-01A-01W-0633-09	TCGA-29-1698-10A-01W-0633-09	T	T					Unknown	Invalid:failed_liftOver	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13d549f0-e884-484c-9c42-0e030a751d83	7066096f-fff7-4e26-822c-93b3c5d7e795	g.chrUnknown:0T>C								None (None upstream) : None (None downstream)																								0.0																																																0			MT																																								11788	SO:0001628	intergenic_variant	4538																															Unknown.37:g.0T>C			11788		Missense_Mutation	SNP	HMMPfam_Oxidored_q5_N,HMMPfam_Oxidored_q1	p.I343T		37	c.1028		MT																																																																																			-	HMMPfam_Oxidored_q1	0	0					MT-ND4			T			11788	+1	no_stop_codon:bad_bp_length_for_coding_region	ENST00000361381	ensembl	human	known	54_36p	missense	SNP	NULL	C
MIER2	54531	genome.wustl.edu	37	19	334516	334516	+	Nonsense_Mutation	SNP	G	G	A			TCGA-29-1698-01A-01W-0633-09	TCGA-29-1698-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13d549f0-e884-484c-9c42-0e030a751d83	7066096f-fff7-4e26-822c-93b3c5d7e795	g.chr19:334516G>A	ENST00000264819.4	-	3	137	c.127C>T	c.(127-129)Cag>Tag	p.Q43*	MIER2_ENST00000592722.1_5'UTR	NM_017550.1	NP_060020.1	Q8N344	MIER2_HUMAN	mesoderm induction early response 1, family member 2	43					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGTTGAACTGATGGTCTCCA	0.607																																																0			19											101.0	91.0	94.0					19																	334516		2203	4300	6503	285516	SO:0001587	stop_gained	54531			AB033019	CCDS32855.1	19p13.3	2008-02-05	2006-04-20	2006-04-20		ENSG00000105556			29210	protein-coding gene	gene with protein product			"""KIAA1193"""	KIAA1193		10574462	Standard	NM_017550		Approved		uc002lok.1	Q8N344		ENST00000264819.4:c.127C>T	19.37:g.334516G>A	ENSP00000264819:p.Gln43*		285516	Q9ULM7	Nonsense_Mutation	SNP	HMMPfam_ELM2,HMMSmart_SANT,HMMPfam_Myb_DNA-binding	p.Q43*	ENST00000264819.4	37	c.127	CCDS32855.1	19	.	.	.	.	.	.	.	.	.	.	.	29.5	5.011948	0.93346	.	.	ENSG00000105556	ENST00000264819	.	.	.	4.31	4.31	0.51392	.	0.646310	0.12865	N	0.432820	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-15.3843	14.1023	0.65065	0.0:0.0:1.0:0.0	.	.	.	.	X	43	.	ENSP00000264819:Q43X	Q	-	1	0	MIER2	285516	0.983000	0.35010	0.748000	0.31131	0.839000	0.47603	4.009000	0.57110	2.240000	0.73641	0.467000	0.42956	CAG	-	NULL		0.607	MIER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIER2	protein_coding	OTTHUMT00000451784.1	G	XM_041843		285516	-1	no_errors	NM_017550	genbank	human	provisional	54_36p	nonsense	SNP	1.000	A
VPS53	55275	genome.wustl.edu	37	17	559155	559155	+	Silent	SNP	G	G	A			TCGA-29-1698-01A-01W-0633-09	TCGA-29-1698-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13d549f0-e884-484c-9c42-0e030a751d83	7066096f-fff7-4e26-822c-93b3c5d7e795	g.chr17:559155G>A	ENST00000571805.1	-	6	547	c.411C>T	c.(409-411)caC>caT	p.H137H	VPS53_ENST00000446250.2_De_novo_Start_OutOfFrame|VPS53_ENST00000574029.1_Intron|VPS53_ENST00000291074.5_Silent_p.H108H|VPS53_ENST00000576149.1_Intron|VPS53_ENST00000437048.2_Silent_p.H137H|VPS53_ENST00000401468.3_Intron			Q5VIR6	VPS53_HUMAN	vacuolar protein sorting 53 homolog (S. cerevisiae)	137					protein transport (GO:0015031)	endosome (GO:0005768)|GARP complex (GO:0000938)|membrane (GO:0016020)				breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)		GGCGTTTGGCGTGATCTAATT	0.448																																																0			17											241.0	193.0	209.0					17																	559155		2203	4300	6503	505905	SO:0001819	synonymous_variant	55275				CCDS10995.1, CCDS45558.1	17p13.3	2007-07-13	2006-12-19			ENSG00000141252			25608	protein-coding gene	gene with protein product		615850	"""vacuolar protein sorting 53 (yeast)"""			15878329	Standard	NM_018289		Approved	FLJ10979, HCCS1	uc010cjo.2	Q5VIR6		ENST00000571805.1:c.411C>T	17.37:g.559155G>A			505905	A8K2S8|B3FH42|Q8WYW3|Q9BRR2|Q9BY02|Q9NV25	Silent	SNP	HMMPfam_Vps53_N	p.H108	ENST00000571805.1	37	c.324		17																																																																																			-	HMMPfam_Vps53_N		0.448	VPS53-006	KNOWN	basic	protein_coding	VPS53	protein_coding	OTTHUMT00000436940.2	G	NM_018289		505905	-1	no_errors	NM_018289	genbank	human	reviewed	54_36p	silent	SNP	0.996	A
MUC5B	727897	genome.wustl.edu	37	11	1265831	1265831	+	Missense_Mutation	SNP	T	T	C	rs200031789	byFrequency	TCGA-29-1698-01A-01W-0633-09	TCGA-29-1698-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13d549f0-e884-484c-9c42-0e030a751d83	7066096f-fff7-4e26-822c-93b3c5d7e795	g.chr11:1265831T>C	ENST00000529681.1	+	31	7779	c.7721T>C	c.(7720-7722)gTc>gCc	p.V2574A	MUC5B_ENST00000447027.1_Missense_Mutation_p.V2577A|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2574	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.|V -> A (in Ref. 4; CAA96577). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.V2577A(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCAGAGACTGTCCACACCTCC	0.652													T|||	62	0.0123802	0.0076	0.0115	5008	,	,		19571	0.001		0.0348	False		,,,				2504	0.0082															1	Substitution - Missense(1)	ovary(1)	11											115.0	137.0	130.0					11																	1265831		2072	4188	6260	1222407	SO:0001583	missense	727897			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.7721T>C	11.37:g.1265831T>C	ENSP00000436812:p.Val2574Ala		1222407	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	HMMSmart_SM00216,HMMPfam_VWD,HMMPfam_C8,superfamily_Serine proterase inhibitors,HMMPfam_TIL,HMMSmart_SM00214,HMMSmart_SM00215,superfamily_PMP inhibitors,PatternScan_VWFC_1,HMMPfam_VWC,HMMSmart_SM00041,HMMPfam_Cys_knot,PatternScan_CTCK_1	p.V2577A	ENST00000529681.1	37	c.7730	CCDS44515.2	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	3.871|3.871	-0.027898|-0.027898	0.07589|0.07589	.|.	.|.	ENSG00000117983|ENSG00000117983	ENST00000537836|ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	.|T;T	.|0.20881	.|2.04;2.23	2.44|2.44	-1.37|-1.37	0.09056|0.09056	.|.	.|.	.|.	.|.	.|.	T|T	0.09905|0.09905	0.0243|0.0243	N|N	0.13098|0.13098	0.295|0.295	0.09310|0.09310	N|N	1|1	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.01281	.|0.0;0.0	T|T	0.31052|0.31052	-0.9957|-0.9957	6|9	0.66056|0.87932	D|D	0.02|0	.|.	2.2601|2.2601	0.04065|0.04065	0.2406:0.4351:0.0:0.3243|0.2406:0.4351:0.0:0.3243	.|.	.|3212;2577	.|A7Y9J9;E9PBJ0	.|.;.	P|A	118|2574;2577;2546;2589	.|ENSP00000436812:V2574A;ENSP00000415793:V2577A	ENSP00000440615:S118P|ENSP00000343037:V2546A	S|V	+|+	1|2	0|0	MUC5B|MUC5B	1222407|1222407	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.003000|0.003000	0.03518|0.03518	-2.187000|-2.187000	0.01250|0.01250	-0.039000|-0.039000	0.13602|0.13602	-1.232000|-1.232000	0.01568|0.01568	TCC|GTC	-	NULL		0.652	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	protein_coding	OTTHUMT00000390041.2	T	XM_001126093		1222407	+1	no_errors	NM_002458	genbank	human	validated	54_36p	missense	SNP	0.000	C
CLPTM1L	81037	genome.wustl.edu	37	5	1335185	1335185	+	Silent	SNP	G	G	A	rs145488125	byFrequency	TCGA-29-1698-01A-01W-0633-09	TCGA-29-1698-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13d549f0-e884-484c-9c42-0e030a751d83	7066096f-fff7-4e26-822c-93b3c5d7e795	g.chr5:1335185G>A	ENST00000320895.5	-	6	1040	c.783C>T	c.(781-783)tcC>tcT	p.S261S	CLPTM1L_ENST00000507807.1_Silent_p.S128S|CLPTM1L_ENST00000320927.6_Silent_p.S261S	NM_030782.3	NP_110409.2	Q96KA5	CLP1L_HUMAN	CLPTM1-like	261					apoptotic process (GO:0006915)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)		Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)		ACTGCTGCAGGGAGTACACGG	0.672													G|||	4	0.000798722	0.003	0.0	5008	,	,		16811	0.0		0.0	False		,,,				2504	0.0															0			5						G		4,4402	8.1+/-20.4	0,4,2199	71.0	69.0	69.0		783	0.1	0.8	5	dbSNP_134	69	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CLPTM1L	NM_030782.3		0,5,6498	AA,AG,GG		0.0116,0.0908,0.0384		261/539	1335185	5,13001	2203	4300	6503	1388185	SO:0001819	synonymous_variant	81037			AK027306	CCDS3862.1	5p15.33	2008-02-05			ENSG00000049656	ENSG00000049656			24308	protein-coding gene	gene with protein product	"""cisplatin resistance related protein"""	612585				11162647	Standard	NM_030782		Approved	FLJ14400, CRR9	uc003jch.3	Q96KA5	OTTHUMG00000131015	ENST00000320895.5:c.783C>T	5.37:g.1335185G>A			1388185	D3DTC1|Q658W6|Q7LG29|Q96AZ0|Q9H3N4	Silent	SNP	HMMPfam_CLPTM1	p.S261	ENST00000320895.5	37	c.783	CCDS3862.1	5																																																																																			-	HMMPfam_CLPTM1		0.672	CLPTM1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLPTM1L	protein_coding	OTTHUMT00000253649.2	G	NM_030782		1388185	-1	no_errors	NM_030782	genbank	human	provisional	54_36p	silent	SNP	0.997	A
RTN4RL1	146760	genome.wustl.edu	37	17	1914892	1914892	+	Intron	SNP	C	C	T	rs112821178	byFrequency	TCGA-29-1698-01A-01W-0633-09	TCGA-29-1698-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13d549f0-e884-484c-9c42-0e030a751d83	7066096f-fff7-4e26-822c-93b3c5d7e795	g.chr17:1914892C>T	ENST00000331238.6	-	1	493					NM_178568.2	NP_848663.1			reticulon 4 receptor-like 1											breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1)	11						AGAGGGACCACGGAGGGCTGT	0.612													C|||	34	0.00678914	0.0257	0.0	5008	,	,		16246	0.0		0.0	False		,,,				2504	0.0				GBM(68;949 1139 14865 32798 38342)											0			17																																								1861642	SO:0001627	intron_variant	0			AF532859	CCDS45569.1	17p13.3	2008-02-05				ENSG00000185924			21329	protein-coding gene	gene with protein product	"""nogo-66 receptor homolog 2"""	610461					Standard	NM_178568		Approved	NGRH2, NgR3, DKFZp547J144	uc002ftp.3	Q86UN2		ENST00000331238.6:c.13+13254G>A	17.37:g.1914892C>T			1861642		Missense_Mutation	SNP	NULL	p.R2240H	ENST00000331238.6	37	c.6719	CCDS45569.1	17																																																																																			-	NULL		0.612	RTN4RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC100134144	protein_coding	OTTHUMT00000450155.2	C	NM_178568		1861642	-1	no_start_codon:pseudogene:no_stop_codon	XM_001717999	genbank	human	model	54_36p	missense	SNP	0.024	T
Unknown	0	genome.wustl.edu	37	12	3181206	3181206	+	IGR	SNP	G	G	A	rs141619668	byFrequency	TCGA-29-1698-01A-01W-0633-09	TCGA-29-1698-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13d549f0-e884-484c-9c42-0e030a751d83	7066096f-fff7-4e26-822c-93b3c5d7e795	g.chr12:3181206G>A								RP11-253E3.3 (27090 upstream) : TSPAN9 (5314 downstream)																							CCCTCGCAGCGTACGACCACC	0.582													G|||	7	0.00139776	0.0053	0.0	5008	,	,		13281	0.0		0.0	False		,,,				2504	0.0															0			12																																								3051467	SO:0001628	intergenic_variant	387825																															12.37:g.3181206G>A			3051467		RNA	SNP	-	NULL		37	NULL		12																																																																																			-	-	0	0.582					LOC387825			G			3051467	-1	pseudogene	XR_016298	genbank	human	model	54_36p	rna	SNP	0.973	A
NOP2	4839	genome.wustl.edu	37	12	6666622	6666622	+	Nonsense_Mutation	SNP	G	G	T			TCGA-29-1698-01A-01W-0633-09	TCGA-29-1698-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13d549f0-e884-484c-9c42-0e030a751d83	7066096f-fff7-4e26-822c-93b3c5d7e795	g.chr12:6666622G>T	ENST00000322166.5	-	16	2097	c.1976C>A	c.(1975-1977)tCa>tAa	p.S659*	NOP2_ENST00000542015.1_5'UTR|NOP2_ENST00000545200.1_3'UTR|IFFO1_ENST00000336604.4_5'Flank|IFFO1_ENST00000356896.4_5'Flank|NOP2_ENST00000541778.1_Nonsense_Mutation_p.S655*|NOP2_ENST00000399466.2_Nonsense_Mutation_p.S655*|NOP2_ENST00000537442.1_Nonsense_Mutation_p.S659*|IFFO1_ENST00000396840.2_5'Flank|NOP2_ENST00000382421.3_Nonsense_Mutation_p.S692*	NM_001258308.1|NM_006170.3	NP_001245237.1|NP_006161.2	P46087	NOP2_HUMAN	NOP2 nucleolar protein	659					positive regulation of cell proliferation (GO:0008284)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	19						GGACAATTCTGAGTCTGCCCC	0.542																																																0			12											144.0	142.0	142.0					12																	6666622		2080	4219	6299	6536883	SO:0001587	stop_gained	4839				CCDS44811.1, CCDS58202.1, CCDS58203.1, CCDS58204.1	12p13	2012-12-10	2012-12-10	2008-10-13	ENSG00000111641	ENSG00000111641		"""NOP2/Sun domain containing"""	7867	protein-coding gene	gene with protein product	"""NOP2/Sun domain family, member 1"""	164031	"""nucleolar protein 1 (120kD)"", ""nucleolar protein 1, 120kDa"", ""nucleolar protein 2 homolog (yeast)"", ""NOP2 nucleolar protein homolog (yeast)"""	NOL1		8088812	Standard	NM_006170		Approved	NOP120, NSUN1, p120	uc021qtz.2	P46087	OTTHUMG00000169163	ENST00000322166.5:c.1976C>A	12.37:g.6666622G>T	ENSP00000313272:p.Ser659*		6536883	A1A4Z3|B3KPD6|Q05BA7|Q0P5S5|Q3KQS4|Q58F30	Nonsense_Mutation	SNP	superfamily_SSF53335,HMMPfam_Nol1_Nop2_Fmu,PatternScan_NOL1_NOP2_SUN,HMMPfam_P120R	p.S655*	ENST00000322166.5	37	c.1964	CCDS58203.1	12	.	.	.	.	.	.	.	.	.	.	G	16.95	3.264279	0.59431	.	.	ENSG00000111641	ENST00000537442;ENST00000382421;ENST00000399466;ENST00000322166;ENST00000541778	.	.	.	4.39	4.39	0.52855	.	0.825221	0.10211	N	0.702174	.	.	.	.	.	.	0.48395	D	0.999649	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	-0.0407	12.6387	0.56696	0.0:0.0:1.0:0.0	.	.	.	.	X	659;692;655;659;655	.	ENSP00000313272:S659X	S	-	2	0	NOP2	6536883	0.148000	0.22702	0.006000	0.13384	0.010000	0.07245	1.767000	0.38501	2.424000	0.82194	0.655000	0.94253	TCA	-	NULL		0.542	NOP2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	NOP2	protein_coding	OTTHUMT00000402614.1	G	NM_006170		6536883	-1	no_errors	NM_001033714	genbank	human	validated	54_36p	nonsense	SNP	0.102	T
ACRBP	84519	genome.wustl.edu	37	12	6749262	6749262	+	Silent	SNP	C	C	T			TCGA-29-1698-01A-01W-0633-09	TCGA-29-1698-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13d549f0-e884-484c-9c42-0e030a751d83	7066096f-fff7-4e26-822c-93b3c5d7e795	g.chr12:6749262C>T	ENST00000229243.2	-	8	1482	c.1389G>A	c.(1387-1389)gaG>gaA	p.E463E	ACRBP_ENST00000414226.2_Silent_p.E430E|ACRBP_ENST00000542357.1_5'UTR	NM_032489.2	NP_115878.2			acrosin binding protein											NS(1)|breast(1)|central_nervous_system(1)|large_intestine(8)|lung(5)|ovary(1)	17						AGCTAAGGAACTCAGTCTGGA	0.557																																																0			12											76.0	75.0	75.0					12																	6749262		2203	4300	6503	6619523	SO:0001819	synonymous_variant	84519			AB051833	CCDS8554.1	12p13.31	2009-03-12			ENSG00000111644	ENSG00000111644			17195	protein-coding gene	gene with protein product	"""proacrosin binding protein sp32"", ""cancer/testis antigen 23"""	608352				11248070	Standard	NM_032489		Approved	SP32, OY-TES-1, CT23	uc001qpu.1	Q8NEB7	OTTHUMG00000168715	ENST00000229243.2:c.1389G>A	12.37:g.6749262C>T			6619523		Silent	SNP	HMMPfam_PBP_sp32,superfamily_SSF100895,HMMSmart_KAZAL	p.E463	ENST00000229243.2	37	c.1389	CCDS8554.1	12																																																																																			-	superfamily_SSF100895		0.557	ACRBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACRBP	protein_coding	OTTHUMT00000400703.1	C	NM_032489		6619523	-1	no_errors	NM_032489	genbank	human	reviewed	54_36p	silent	SNP	0.980	T
ACAP1	9744	genome.wustl.edu	37	17	7250361	7250361	+	Silent	SNP	C	C	T			TCGA-29-1698-01A-01W-0633-09	TCGA-29-1698-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13d549f0-e884-484c-9c42-0e030a751d83	7066096f-fff7-4e26-822c-93b3c5d7e795	g.chr17:7250361C>T	ENST00000158762.3	+	14	1349	c.1143C>T	c.(1141-1143)caC>caT	p.H381H		NM_014716.3	NP_055531.1	Q15027	ACAP1_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1	381	Required for formation of endosomal tubules when overexpressed with PIP5K1C.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)	endosome (GO:0005768)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						GCTCAGGACACCTGGCCATAG	0.682																																																0			17											22.0	22.0	22.0					17																	7250361		2203	4298	6501	7191085	SO:0001819	synonymous_variant	9744			D30758	CCDS11101.1	17p13.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000072818	ENSG00000072818		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16467	protein-coding gene	gene with protein product		607763	"""centaurin, beta 1"""	CENTB1		11050434, 11062263	Standard	NM_014716		Approved	KIAA0050	uc002ggd.2	Q15027	OTTHUMG00000102199	ENST00000158762.3:c.1143C>T	17.37:g.7250361C>T			7191085	Q53XN9	Silent	SNP	superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH,superfamily_ArfGAP,HMMPfam_ArfGap,HMMSmart_ArfGap,superfamily_ANK,HMMSmart_ANK,HMMPfam_Ank	p.H381	ENST00000158762.3	37	c.1143	CCDS11101.1	17																																																																																			-	NULL		0.682	ACAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACAP1	protein_coding	OTTHUMT00000220049.4	C	NM_014716		7191085	+1	no_errors	NM_014716	genbank	human	validated	54_36p	silent	SNP	0.091	T
TP53	7157	genome.wustl.edu	37	17	7578272	7578272	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1698-01A-01W-0633-09	TCGA-29-1698-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13d549f0-e884-484c-9c42-0e030a751d83	7066096f-fff7-4e26-822c-93b3c5d7e795	g.chr17:7578272G>A	ENST00000269305.4	-	6	766	c.577C>T	c.(577-579)Cat>Tat	p.H193Y	TP53_ENST00000413465.2_Missense_Mutation_p.H193Y|TP53_ENST00000420246.2_Missense_Mutation_p.H193Y|TP53_ENST00000455263.2_Missense_Mutation_p.H193Y|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.H193Y|TP53_ENST00000445888.2_Missense_Mutation_p.H193Y	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	193	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7887414}.|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.H193Y(29)|p.H193D(13)|p.0?(8)|p.?(6)|p.H193N(4)|p.A189_V197delAPPQHLIRV(4)|p.H193fs*16(3)|p.P191_E198>Q(3)|p.P191fs*53(2)|p.H61D(2)|p.H100D(2)|p.P191fs*15(1)|p.H61Y(1)|p.P191fs*6(1)|p.H100Y(1)|p.P98_E105>Q(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.H193_I195>AP(1)|p.A189fs*53(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)	CGGATAAGATGCTGAGGAGGG	0.557		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	85	Substitution - Missense(52)|Whole gene deletion(8)|Complex - deletion inframe(6)|Unknown(6)|Deletion - In frame(5)|Deletion - Frameshift(4)|Insertion - Frameshift(3)|Complex - frameshift(1)	breast(14)|lung(12)|haematopoietic_and_lymphoid_tissue(8)|biliary_tract(7)|ovary(6)|upper_aerodigestive_tract(5)|liver(5)|oesophagus(5)|central_nervous_system(4)|skin(4)|bone(4)|large_intestine(3)|stomach(2)|urinary_tract(2)|pancreas(2)|adrenal_gland(1)|soft_tissue(1)	17											95.0	85.0	88.0					17																	7578272		2203	4300	6503	7518997	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.577C>T	17.37:g.7578272G>A	ENSP00000269305:p.His193Tyr		7518997	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.H193Y	ENST00000269305.4	37	c.577	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	17.43	3.387715	0.61956	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99851	-7.17;-7.17;-7.17;-7.17;-7.17;-7.17;-7.17;-7.17	5.41	5.41	0.78517	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	0.99873	0.9940	M	0.88906	2.99	0.58432	D	0.999999	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.96559	0.9414	10	0.87932	D	0	-29.0766	17.0767	0.86588	0.0:0.0:1.0:0.0	.	154;193;193;100;193;193;193	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	Y	193;193;193;193;193;193;182;100;61;100;61	ENSP00000410739:H193Y;ENSP00000352610:H193Y;ENSP00000269305:H193Y;ENSP00000398846:H193Y;ENSP00000391127:H193Y;ENSP00000391478:H193Y;ENSP00000425104:H61Y;ENSP00000423862:H100Y	ENSP00000269305:H193Y	H	-	1	0	TP53	7518997	1.000000	0.71417	0.971000	0.41717	0.032000	0.12392	9.813000	0.99286	2.702000	0.92279	0.655000	0.94253	CAT	-	HMMPfam_P53,superfamily_p53-like transcription factors		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	G	NM_000546		7518997	-1	no_errors	NM_000546	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
USP6NL	9712	genome.wustl.edu	37	10	11505528	11505528	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1698-01A-01W-0633-09	TCGA-29-1698-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13d549f0-e884-484c-9c42-0e030a751d83	7066096f-fff7-4e26-822c-93b3c5d7e795	g.chr10:11505528C>A	ENST00000609104.1	-	15	1793	c.1399G>T	c.(1399-1401)Gca>Tca	p.A467S	USP6NL_ENST00000379237.2_Missense_Mutation_p.A490S|USP6NL_ENST00000277575.5_Missense_Mutation_p.A484S	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN	USP6 N-terminal like	467					Golgi organization (GO:0007030)|plasma membrane to endosome transport (GO:0048227)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of Golgi organization (GO:1903358)|retrograde transport, plasma membrane to Golgi (GO:0035526)|virion assembly (GO:0019068)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						TTGGCAGCTGCGTGATTATAT	0.463																																																0			10											163.0	159.0	160.0					10																	11505528		1957	4153	6110	11545534	SO:0001583	missense	9712			BC010351	CCDS44357.1, CCDS53492.1	10p13	2013-07-09			ENSG00000148429	ENSG00000148429			16858	protein-coding gene	gene with protein product	"""related to the N terminus of tre"""	605405	"""USP6NL intronic transcript 1 (non-protein coding)"""	USP6NL-IT1		8700515, 8700527, 12399475	Standard	XR_247492		Approved	RNTRE, KIAA0019, TRE2NL, RN-tre	uc001iks.1	Q92738	OTTHUMG00000017672	ENST00000609104.1:c.1399G>T	10.37:g.11505528C>A	ENSP00000476462:p.Ala467Ser		11545534	A8KA79|Q15400|Q5VV10|Q7L0K9	Missense_Mutation	SNP	superfamily_Ypt/Rab-GAP domain of gyp1p,HMMPfam_TBC,HMMSmart_SM00164	p.A484S	ENST00000609104.1	37	c.1450	CCDS53492.1	10	.	.	.	.	.	.	.	.	.	.	C	23.5	4.429027	0.83667	.	.	ENSG00000148429	ENST00000535316;ENST00000277575;ENST00000379237	T;T	0.07800	3.16;3.18	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.28830	0.0715	M	0.68952	2.095	0.58432	D	0.99999	D;D	0.71674	0.997;0.998	P;D	0.68192	0.904;0.956	T	0.00046	-1.2214	10	0.40728	T	0.16	.	20.2825	0.98528	0.0:1.0:0.0:0.0	.	467;484	Q92738;Q92738-2	US6NL_HUMAN;.	S	467;484;467	ENSP00000277575:A484S;ENSP00000368539:A467S	ENSP00000277575:A484S	A	-	1	0	USP6NL	11545534	1.000000	0.71417	0.286000	0.24833	0.654000	0.38779	4.131000	0.57970	2.873000	0.98535	0.561000	0.74099	GCA	-	NULL		0.463	USP6NL-001	KNOWN	basic|CCDS	protein_coding	USP6NL	protein_coding	OTTHUMT00000046764.3	C	NM_014688		11545534	-1	no_errors	NM_001080491	genbank	human	validated	54_36p	missense	SNP	0.988	A
GREB1	9687	genome.wustl.edu	37	2	11761033	11761033	+	Silent	SNP	C	C	T			TCGA-29-1698-01A-01W-0633-09	TCGA-29-1698-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13d549f0-e884-484c-9c42-0e030a751d83	7066096f-fff7-4e26-822c-93b3c5d7e795	g.chr2:11761033C>T	ENST00000381486.2	+	23	4347	c.4047C>T	c.(4045-4047)atC>atT	p.I1349I	GREB1_ENST00000396123.1_Silent_p.I347I|GREB1_ENST00000234142.5_Silent_p.I1349I	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1349						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CTTTACAGATCGGGAAGACAG	0.547																																					Ovarian(39;850 945 2785 23371 33093)											0			2											162.0	161.0	162.0					2																	11761033		1959	4152	6111	11678484	SO:0001819	synonymous_variant	9687				CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"""gene regulated by estrogen in breast cancer"""	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.4047C>T	2.37:g.11761033C>T			11678484	A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Silent	SNP	NULL	p.I1349	ENST00000381486.2	37	c.4047	CCDS42655.1	2																																																																																			-	NULL		0.547	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GREB1	protein_coding	OTTHUMT00000280490.1	C	NM_014668		11678484	+1	no_errors	NM_014668	genbank	human	reviewed	54_36p	silent	SNP	0.987	T
KLHDC7A	127707	genome.wustl.edu	37	1	18808650	18808650	+	Missense_Mutation	SNP	C	C	G	rs200169797	byFrequency	TCGA-29-1698-01A-01W-0633-09	TCGA-29-1698-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13d549f0-e884-484c-9c42-0e030a751d83	7066096f-fff7-4e26-822c-93b3c5d7e795	g.chr1:18808650C>G	ENST00000400664.1	+	1	1227	c.1175C>G	c.(1174-1176)cCg>cGg	p.P392R		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	392						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TGCCCAGACCCGGGCGCCCTG	0.667													C|||	5	0.000998403	0.0038	0.0	5008	,	,		14175	0.0		0.0	False		,,,				2504	0.0															0			1						C	ARG/PRO	11,4279		0,11,2134	11.0	15.0	13.0		1175	-3.8	0.0	1		13	0,8458		0,0,4229	no	missense	KLHDC7A	NM_152375.2	103	0,11,6363	GG,GC,CC		0.0,0.2564,0.0863	possibly-damaging	392/778	18808650	11,12737	2145	4229	6374	18681237	SO:0001583	missense	127707			AK096072	CCDS185.2	1p36.13	2008-02-05			ENSG00000179023	ENSG00000179023			26791	protein-coding gene	gene with protein product							Standard	NM_152375		Approved	FLJ38753	uc001bax.3	Q5VTJ3	OTTHUMG00000002431	ENST00000400664.1:c.1175C>G	1.37:g.18808650C>G	ENSP00000383505:p.Pro392Arg		18681237	Q8N8W6	Missense_Mutation	SNP	superfamily_Gal_oxid_central,HMMPfam_Kelch_1,HMMSmart_Kelch	p.P392R	ENST00000400664.1	37	c.1175	CCDS185.2	1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	4.823	0.153009	0.09185	0.002564	0.0	ENSG00000179023	ENST00000400664;ENST00000540290	T	0.72167	-0.63	4.58	-3.76	0.04359	.	1.347400	0.05113	N	0.489331	T	0.46718	0.1407	N	0.14661	0.345	0.09310	N	1	B;B	0.18863	0.012;0.031	B;B	0.15484	0.013;0.007	T	0.18840	-1.0324	10	0.27785	T	0.31	.	3.0382	0.06129	0.3054:0.4264:0.1593:0.1089	.	329;392	A7E2V3;Q5VTJ3	.;KLD7A_HUMAN	R	392;329	ENSP00000383505:P392R	ENSP00000383505:P392R	P	+	2	0	KLHDC7A	18681237	0.000000	0.05858	0.002000	0.10522	0.365000	0.29674	-0.607000	0.05648	-0.331000	0.08501	-0.657000	0.03884	CCG	-	NULL		0.667	KLHDC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHDC7A	protein_coding	OTTHUMT00000006923.3	C	NM_152375		18681237	+1	no_errors	NM_152375	genbank	human	validated	54_36p	missense	SNP	0.001	G
RAB36	9609	genome.wustl.edu	37	22	23495234	23495234	+	Missense_Mutation	SNP	T	T	G			TCGA-29-1698-01A-01W-0633-09	TCGA-29-1698-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13d549f0-e884-484c-9c42-0e030a751d83	7066096f-fff7-4e26-822c-93b3c5d7e795	g.chr22:23495234T>G	ENST00000263116.2	+	5	480	c.440T>G	c.(439-441)gTt>gGt	p.V147G	RAB36_ENST00000341989.4_Missense_Mutation_p.V125G	NM_004914.2	NP_004905.2	O95755	RAB36_HUMAN	RAB36, member RAS oncogene family	147					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.155)		TGCAAGAATGTTTTTGATCGA	0.483																																																0			22											183.0	175.0	178.0					22																	23495234		2203	4300	6503	21825234	SO:0001583	missense	9609			AB023061	CCDS13805.1	22q11.22	2008-06-11			ENSG00000100228	ENSG00000100228		"""RAB, member RAS oncogene"""	9775	protein-coding gene	gene with protein product		605662				9920784, 10591208	Standard	NM_004914		Approved		uc002zwv.1	O95755	OTTHUMG00000150601	ENST00000263116.2:c.440T>G	22.37:g.23495234T>G	ENSP00000263116:p.Val147Gly		21825234	Q2M390|Q7Z4A9|Q9UHP5	Missense_Mutation	SNP	HMMSmart_SM00177,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00173,HMMPfam_Ras,HMMSmart_SM00175,HMMSmart_SM00174,HMMSmart_SM00176	p.V147G	ENST00000263116.2	37	c.440	CCDS13805.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.57|12.57	1.977888|1.977888	0.34942|0.34942	.|.	.|.	ENSG00000100228|ENSG00000100228	ENST00000420895|ENST00000263116;ENST00000341989	.|T;T	.|0.76448	.|-1.02;-1.02	5.53|5.53	1.8|1.8	0.24995|0.24995	.|Small GTP-binding protein domain (1);	.|0.800800	.|0.10954	.|N	.|0.615726	T|T	0.71978|0.71978	0.3404|0.3404	L|L	0.38692|0.38692	1.165|1.165	0.26121|0.26121	N|N	0.980541|0.980541	.|P;P	.|0.41188	.|0.589;0.741	.|B;P	.|0.45712	.|0.229;0.491	T|T	0.61613|0.61613	-0.7027|-0.7027	5|10	.|0.56958	.|D	.|0.05	-9.1302|-9.1302	7.6194|7.6194	0.28177|0.28177	0.0:0.309:0.0:0.691|0.0:0.309:0.0:0.691	.|.	.|125;147	.|O95755-2;O95755	.|.;RAB36_HUMAN	W|G	41|147;125	.|ENSP00000263116:V147G;ENSP00000343494:V125G	.|ENSP00000263116:V147G	C|V	+|+	3|2	2|0	RAB36|RAB36	21825234|21825234	0.013000|0.013000	0.17824|0.17824	0.177000|0.177000	0.23020|0.23020	0.810000|0.810000	0.45777|0.45777	0.258000|0.258000	0.18387|0.18387	0.475000|0.475000	0.27415|0.27415	-0.290000|-0.290000	0.09829|0.09829	TGT|GTT	-	HMMSmart_SM00177,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00173,HMMPfam_Ras,HMMSmart_SM00175,HMMSmart_SM00174,HMMSmart_SM00176		0.483	RAB36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB36	protein_coding	OTTHUMT00000319046.1	T	NM_004914		21825234	+1	no_errors	NM_004914	genbank	human	validated	54_36p	missense	SNP	0.984	G
DSG4	147409	genome.wustl.edu	37	18	28968881	28968881	+	Missense_Mutation	SNP	G	G	T	rs76399598		TCGA-29-1698-01A-01W-0633-09	TCGA-29-1698-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13d549f0-e884-484c-9c42-0e030a751d83	7066096f-fff7-4e26-822c-93b3c5d7e795	g.chr18:28968881G>T	ENST00000308128.4	+	5	552	c.417G>T	c.(415-417)agG>agT	p.R139S	RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|DSG4_ENST00000359747.4_Missense_Mutation_p.R139S	NM_177986.3	NP_817123.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	139	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.		Missing (in HYPT6). {ECO:0000269|PubMed:12705872, ECO:0000269|PubMed:15191570}.		anagen (GO:0042640)|BMP signaling pathway (GO:0030509)|homophilic cell adhesion (GO:0007156)|keratinocyte differentiation (GO:0030216)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			ATTTAGAAAGGCCTCTTGAGC	0.398																																																0			18											109.0	110.0	110.0					18																	28968881		2203	4299	6502	27222879	SO:0001583	missense	147409			AY177664, AY168788	CCDS11897.1, CCDS45845.1	18q12.1	2010-01-26			ENSG00000175065	ENSG00000175065		"""Cadherins / Major cadherins"""	21307	protein-coding gene	gene with protein product		607892				12648213	Standard	NM_001134453		Approved	CDHF13, LAH	uc002kwq.2	Q86SJ6	OTTHUMG00000131979	ENST00000308128.4:c.417G>T	18.37:g.28968881G>T	ENSP00000311859:p.Arg139Ser		27222879	A2RUI1|Q6Y9L9|Q8IXV4	Missense_Mutation	SNP	superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1	p.R139S	ENST00000308128.4	37	c.417	CCDS11897.1	18	.	.	.	.	.	.	.	.	.	.	G	13.66	2.304764	0.40795	.	.	ENSG00000175065	ENST00000308128;ENST00000359747	T;T	0.46063	0.88;0.88	6.11	-10.3	0.00346	Cadherin (4);Cadherin-like (1);	0.411060	0.17980	N	0.155551	T	0.17492	0.0420	L	0.31420	0.93	0.23132	N	0.998241	B;B	0.16802	0.019;0.01	B;B	0.18871	0.02;0.023	T	0.05989	-1.0852	10	0.22706	T	0.39	.	3.6053	0.08039	0.525:0.1547:0.0865:0.2337	.	139;139	Q86SJ6-2;Q86SJ6	.;DSG4_HUMAN	S	139	ENSP00000311859:R139S;ENSP00000352785:R139S	ENSP00000311859:R139S	R	+	3	2	DSG4	27222879	0.012000	0.17670	0.417000	0.26559	0.979000	0.70002	-1.336000	0.02660	-1.769000	0.01297	-0.136000	0.14681	AGG	-	superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112		0.398	DSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSG4	protein_coding	OTTHUMT00000254941.1	G	NM_177986		27222879	+1	no_errors	NM_177986	genbank	human	validated	54_36p	missense	SNP	0.733	T
KIAA0556	23247	genome.wustl.edu	37	16	27789034	27789034	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1698-01A-01W-0633-09	TCGA-29-1698-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13d549f0-e884-484c-9c42-0e030a751d83	7066096f-fff7-4e26-822c-93b3c5d7e795	g.chr16:27789034C>A	ENST00000261588.4	+	26	4674	c.4655C>A	c.(4654-4656)aCc>aAc	p.T1552N		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	1552						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						CCCTACCACACCATCCTCTTC	0.642																																																0			16											121.0	99.0	106.0					16																	27789034		2197	4300	6497	27696535	SO:0001583	missense	23247			AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.4655C>A	16.37:g.27789034C>A	ENSP00000261588:p.Thr1552Asn		27696535	A7E2C2	Missense_Mutation	SNP	superfamily_Galactose-binding domain-like,PatternScan_AKH	p.T1552N	ENST00000261588.4	37	c.4655	CCDS32415.1	16	.	.	.	.	.	.	.	.	.	.	C	27.9	4.870390	0.91587	.	.	ENSG00000047578	ENST00000261588	T	0.12774	2.65	4.75	4.75	0.60458	.	0.000000	0.85682	D	0.000000	T	0.37598	0.1009	M	0.66939	2.045	0.58432	D	0.999991	D	0.89917	1.0	D	0.91635	0.999	T	0.21655	-1.0239	10	0.87932	D	0	-43.3604	17.7289	0.88372	0.0:1.0:0.0:0.0	.	1552	O60303	K0556_HUMAN	N	1552	ENSP00000261588:T1552N	ENSP00000261588:T1552N	T	+	2	0	KIAA0556	27696535	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.415000	0.80131	2.340000	0.79590	0.561000	0.74099	ACC	-	NULL		0.642	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0556	protein_coding	OTTHUMT00000433724.1	C	NM_015202		27696535	+1	no_errors	NM_015202	genbank	human	validated	54_36p	missense	SNP	1.000	A
IL1RAPL1	11141	genome.wustl.edu	37	X	29938203	29938203	+	Missense_Mutation	SNP	A	A	C			TCGA-29-1698-01A-01W-0633-09	TCGA-29-1698-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13d549f0-e884-484c-9c42-0e030a751d83	7066096f-fff7-4e26-822c-93b3c5d7e795	g.chrX:29938203A>C	ENST00000378993.1	+	8	1722	c.1049A>C	c.(1048-1050)cAt>cCt	p.H350P	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.H350P	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	350	Ig-like C2-type 3.				calcium ion transmembrane transport (GO:0070588)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of exocytosis (GO:0045920)|neuron differentiation (GO:0030182)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor binding (GO:0005102)|voltage-gated calcium channel activity (GO:0005245)			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						GTTCTCCTTCATAAACGAGGT	0.398																																																0			X											111.0	89.0	96.0					X																	29938203		2202	4300	6502	29848124	SO:0001583	missense	11141			AJ243874	CCDS14218.1	Xp22.1-p21.3	2013-01-29	2004-02-13		ENSG00000169306	ENSG00000169306		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5996	protein-coding gene	gene with protein product		300206	"""mental retardation, X-linked 34"", ""mental retardation, X-linked 21"", ""mental retardation, X-linked 10"""	IL1RAPL, MRX34, MRX21, MRX10		10471494, 10757639	Standard	NM_014271		Approved	OPHN4, TIGIRR-2, IL1R8	uc004dby.2	Q9NZN1	OTTHUMG00000021317	ENST00000378993.1:c.1049A>C	X.37:g.29938203A>C	ENSP00000368278:p.His350Pro		29848124	A0AVG4|Q9UJ53	Missense_Mutation	SNP	superfamily_Immunoglobulin,HMMSmart_SM00409,HMMPfam_ig,HMMSmart_SM00408,superfamily_Toll/Interleukin receptor TIR domain,HMMSmart_SM00255,HMMPfam_TIR	p.H350P	ENST00000378993.1	37	c.1049	CCDS14218.1	X	.	.	.	.	.	.	.	.	.	.	A	14.34	2.505382	0.44558	.	.	ENSG00000169306	ENST00000378993;ENST00000302196	T;T	0.03831	3.79;3.79	6.03	6.03	0.97812	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.297672	0.37809	N	0.001924	T	0.04137	0.0115	N	0.14661	0.345	0.30277	N	0.791688	B	0.32939	0.391	B	0.41510	0.359	T	0.33803	-0.9854	9	.	.	.	.	5.9184	0.19067	0.7743:0.0:0.0765:0.1492	.	350	Q9NZN1	IRPL1_HUMAN	P	350	ENSP00000368278:H350P;ENSP00000305200:H350P	.	H	+	2	0	IL1RAPL1	29848124	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.745000	0.47459	2.044000	0.60594	0.425000	0.28330	CAT	-	superfamily_Immunoglobulin,HMMSmart_SM00409		0.398	IL1RAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL1RAPL1	protein_coding	OTTHUMT00000056155.1	A	NM_014271		29848124	+1	no_errors	NM_014271	genbank	human	reviewed	54_36p	missense	SNP	0.995	C
MSH5	4439	genome.wustl.edu	37	6	31727950	31727950	+	Missense_Mutation	SNP	T	T	A			TCGA-29-1698-01A-01W-0633-09	TCGA-29-1698-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13d549f0-e884-484c-9c42-0e030a751d83	7066096f-fff7-4e26-822c-93b3c5d7e795	g.chr6:31727950T>A	ENST00000375755.3	+	19	2055	c.1769T>A	c.(1768-1770)aTc>aAc	p.I590N	MSH5_ENST00000395853.1_Missense_Mutation_p.I264N|MSH5-SAPCD1_ENST00000493662.2_Missense_Mutation_p.I607N|SAPCD1_ENST00000425424.1_5'Flank|SAPCD1_ENST00000415669.2_5'Flank|MSH5_ENST00000375703.3_Missense_Mutation_p.I590N|MSH5_ENST00000431848.2_Missense_Mutation_p.I289N|MSH5_ENST00000534153.4_Missense_Mutation_p.I607N|MSH5_ENST00000375750.3_Missense_Mutation_p.I590N|MSH5_ENST00000375742.3_Missense_Mutation_p.I607N|MSH5_ENST00000375740.3_Missense_Mutation_p.I607N	NM_002441.4	NP_002432.1	O43196	MSH5_HUMAN	mutS homolog 5	590					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|reciprocal meiotic recombination (GO:0007131)	synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)			breast(1)|ovary(2)|skin(2)	5						GTCAAAGTCATCACTGGACCC	0.567								Direct reversal of damage;Mismatch excision repair (MMR)																																								0			6											113.0	107.0	109.0					6																	31727950		2203	4300	6503	31835929	SO:0001583	missense	4439			AF070071	CCDS4720.1, CCDS34409.1, CCDS34410.1, CCDS34409.2	6p21.3	2013-09-12	2013-09-12		ENSG00000204410	ENSG00000204410			7328	protein-coding gene	gene with protein product		603382	"""mutS (E. coli) homolog 5"", ""mutS homolog 5 (E. coli)"""			9740671, 9787078, 17977839	Standard	NM_002441		Approved		uc011hbg.2	O43196	OTTHUMG00000167551	ENST00000375755.3:c.1769T>A	6.37:g.31727950T>A	ENSP00000364908:p.Ile590Asn		31835929	B0V033|B0V034|O60586|Q5BLU9|Q5SSR1|Q8IW44|Q9BQC7	Missense_Mutation	SNP	HMMPfam_MutS_III,superfamily_DNA_repair_MutS_domIII,HMMSmart_MUTSd,HMMPfam_MutS_IV,HMMPfam_MutS_V,superfamily_SSF52540,HMMSmart_MUTSac,PatternScan_DNA_MISMATCH_REPAIR_2	p.I607N	ENST00000375755.3	37	c.1820	CCDS4720.1	6	.	.	.	.	.	.	.	.	.	.	T	28.2	4.898097	0.91962	.	.	ENSG00000204410	ENST00000375755;ENST00000375742;ENST00000383401;ENST00000375750;ENST00000534153;ENST00000375703;ENST00000375740;ENST00000431848;ENST00000395853	D;D;D;D;D;D;D;D	0.90261	-2.64;-2.64;-2.64;-2.64;-2.64;-2.64;-2.64;-2.64	6.06	6.06	0.98353	DNA mismatch repair protein MutS, C-terminal (2);	0.097632	0.64402	D	0.000002	D	0.96537	0.8870	H	0.96015	3.755	0.47009	D	0.999283	D;D;D;D;D	0.89917	0.999;0.998;1.0;0.999;0.998	D;D;D;D;D	0.77557	0.982;0.975;0.99;0.976;0.958	D	0.97659	1.0159	9	0.87932	D	0	-0.747	14.5614	0.68140	0.0:0.0:0.0:1.0	.	275;607;590;590;607	Q59EC5;O43196-4;O43196;O43196-2;O43196-3	.;.;MSH5_HUMAN;.;.	N	590;607;122;590;607;590;607;289;264	ENSP00000364908:I590N;ENSP00000364894:I607N;ENSP00000364903:I590N;ENSP00000431693:I607N;ENSP00000364855:I590N;ENSP00000364892:I607N;ENSP00000416784:I289N;ENSP00000379194:I264N	ENSP00000364855:I590N	I	+	2	0	MSH5	31835929	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.072000	0.76777	2.324000	0.78689	0.533000	0.62120	ATC	-	HMMPfam_MutS_V,superfamily_SSF52540,HMMSmart_MUTSac		0.567	MSH5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MSH5	protein_coding	OTTHUMT00000076243.4	T			31835929	+1	no_errors	NM_025259	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
BAZ1A	11177	genome.wustl.edu	37	14	35227976	35227976	+	Silent	SNP	T	T	C			TCGA-29-1698-01A-01W-0633-09	TCGA-29-1698-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13d549f0-e884-484c-9c42-0e030a751d83	7066096f-fff7-4e26-822c-93b3c5d7e795	g.chr14:35227976T>C	ENST00000382422.2	-	24	4647	c.4320A>G	c.(4318-4320)caA>caG	p.Q1440Q	BAZ1A_ENST00000358716.4_Silent_p.Q1408Q|BAZ1A_ENST00000360310.1_Silent_p.Q1440Q			Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	1440					chromatin remodeling (GO:0006338)|DNA-dependent DNA replication (GO:0006261)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	ACF complex (GO:0016590)|CHRAC (GO:0008623)|nuclear chromosome (GO:0000228)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		CTACAACAAGTTGTTCAAAAG	0.393																																																0			14											103.0	95.0	98.0					14																	35227976		2203	4300	6503	34297727	SO:0001819	synonymous_variant	11177			AB032252	CCDS9651.1, CCDS41943.1	14q13.2	2013-01-28			ENSG00000198604	ENSG00000198604		"""Zinc fingers, PHD-type"""	960	protein-coding gene	gene with protein product		605680				10662543	Standard	NM_013448		Approved	hACF1, ACF1, WALp1, WCRF180	uc001wsk.3	Q9NRL2	OTTHUMG00000140216	ENST00000382422.2:c.4320A>G	14.37:g.35227976T>C			34297727	Q9NZ15|Q9P065|Q9UIG1|Q9Y3V3	Silent	SNP	HMMPfam_WAC_Acf1_DNA_bd,HMMPfam_DDT,HMMSmart_SM00571,superfamily_FYVE/PHD zinc finger,HMMSmart_SM00249,HMMPfam_PHD,PatternScan_ZF_PHD_1,superfamily_Bromodomain,HMMSmart_SM00297,HMMPfam_Bromodomain,PatternScan_BROMODOMAIN_1	p.Q1440	ENST00000382422.2	37	c.4320	CCDS9651.1	14																																																																																			-	superfamily_Bromodomain,HMMSmart_SM00297,HMMPfam_Bromodomain		0.393	BAZ1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAZ1A	protein_coding	OTTHUMT00000276646.1	T			34297727	-1	no_errors	NM_013448	genbank	human	validated	54_36p	silent	SNP	0.997	C
RAPGEFL1	51195	genome.wustl.edu	37	17	38345218	38345218	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1698-01A-01W-0633-09	TCGA-29-1698-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13d549f0-e884-484c-9c42-0e030a751d83	7066096f-fff7-4e26-822c-93b3c5d7e795	g.chr17:38345218G>T	ENST00000456989.2	+	5	527	c.481G>T	c.(481-483)Ggc>Tgc	p.G161C	RAPGEFL1_ENST00000264644.6_Missense_Mutation_p.G106C|RAPGEFL1_ENST00000436615.3_Missense_Mutation_p.G106C|RAPGEFL1_ENST00000540388.1_3'UTR|RAPGEFL1_ENST00000544503.1_Missense_Mutation_p.G155C			Q9UHV5	RPGFL_HUMAN	Rap guanine nucleotide exchange factor (GEF)-like 1	312					G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						GGCCTTCCGGGGCTCTGATGA	0.612																																					Esophageal Squamous(28;274 750 6870 14218 42203)											0			17											37.0	40.0	39.0					17																	38345218		2203	4300	6503	35598744	SO:0001583	missense	51195			AF117946	CCDS11363.1	17q21.2	2006-08-01	2004-03-26		ENSG00000108352	ENSG00000108352			17428	protein-coding gene	gene with protein product	"""Link guanine nucleotide exchange factor II"""		"""RAP guanine-nucleotide-exchange factor (GEF)-like 1"""				Standard	NM_016339		Approved	Link-GEFII	uc010cwu.1	Q9UHV5	OTTHUMG00000133325	ENST00000456989.2:c.481G>T	17.37:g.38345218G>T	ENSP00000394530:p.Gly161Cys		35598744		Missense_Mutation	SNP	superfamily_Ras_GEF,HMMPfam_RA,HMMSmart_RasGEF,HMMPfam_RasGEF	p.G106C	ENST00000456989.2	37	c.316		17	.	.	.	.	.	.	.	.	.	.	G	21.7	4.190825	0.78789	.	.	ENSG00000108352	ENST00000456989;ENST00000543876;ENST00000544503;ENST00000537255;ENST00000264644;ENST00000436615	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	5.73	5.73	0.89815	Ras guanine nucleotide exchange factor, domain (1);	0.124912	0.53938	D	0.000059	T	0.61123	0.2322	L	0.50333	1.59	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.993;1.0	T	0.58685	-0.7593	10	0.51188	T	0.08	.	18.65	0.91427	0.0:0.0:1.0:0.0	.	42;312	B4DGK9;Q9UHV5	.;RPGFL_HUMAN	C	161;106;155;106;311;106	ENSP00000394530:G161C;ENSP00000440226:G106C;ENSP00000438631:G155C;ENSP00000408322:G106C	ENSP00000264644:G311C	G	+	1	0	RAPGEFL1	35598744	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.705000	0.74644	2.695000	0.91970	0.655000	0.94253	GGC	-	superfamily_Ras_GEF		0.612	RAPGEFL1-005	PUTATIVE	non_canonical_conserved|basic|exp_conf	protein_coding	RAPGEFL1	protein_coding	OTTHUMT00000397518.1	G	NM_016339		35598744	+1	no_errors	NM_016339	genbank	human	validated	54_36p	missense	SNP	1.000	T
COMMD9	29099	genome.wustl.edu	37	11	36296322	36296322	+	Splice_Site	SNP	T	T	G			TCGA-29-1698-01A-01W-0633-09	TCGA-29-1698-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13d549f0-e884-484c-9c42-0e030a751d83	7066096f-fff7-4e26-822c-93b3c5d7e795	g.chr11:36296322T>G	ENST00000263401.5	-	6	473	c.457A>C	c.(457-459)Atc>Ctc	p.I153L	COMMD9_ENST00000532705.1_Splice_Site_p.D141A|LINC00610_ENST00000355500.1_lincRNA|COMMD9_ENST00000533308.1_5'Flank|COMMD9_ENST00000452374.2_Splice_Site_p.I111L	NM_014186.3	NP_054905.2	Q9P000	COMD9_HUMAN	COMM domain containing 9	153	COMM. {ECO:0000255|PROSITE- ProRule:PRU00602}.									kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	5	all_lung(20;0.211)	all_hematologic(20;0.107)				TCTTCTTGGATCTGAAACGAG	0.527																																																0			11											120.0	101.0	107.0					11																	36296322		2202	4298	6500	36252898	SO:0001630	splice_region_variant	29099			AY542164	CCDS7900.1, CCDS44571.1	11p13	2008-02-05			ENSG00000110442	ENSG00000110442			25014	protein-coding gene	gene with protein product		612299				15799966	Standard	NM_014186		Approved	HSPC166, FLJ31106	uc001mwn.4	Q9P000	OTTHUMG00000166333	ENST00000263401.5:c.457-1A>C	11.37:g.36296322T>G			36252898	E9PAN2|Q96FI2|Q9H0R0	Missense_Mutation	SNP	HMMPfam_HCaRG	p.I153L	ENST00000263401.5	37	c.457	CCDS7900.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.65|11.65	1.702374|1.702374	0.30232|0.30232	.|.	.|.	ENSG00000110442|ENSG00000110442	ENST00000532705|ENST00000263401;ENST00000537683;ENST00000452374	.|T;T	.|0.07444	.|3.19;3.19	5.66|5.66	5.66|5.66	0.87406|0.87406	.|COMM domain (1);	.|0.123291	.|0.64402	.|D	.|0.000011	T|T	0.20861|0.20861	0.0502|0.0502	L|L	0.52266|0.52266	1.64|1.64	0.34271|0.34271	D|D	0.681026|0.681026	.|B;D	.|0.58620	.|0.015;0.983	.|B;D	.|0.73708	.|0.023;0.981	T|T	0.17471|0.17471	-1.0368|-1.0368	6|10	0.06494|0.13470	T|T	0.89|0.59	-0.6565|-0.6565	14.8828|14.8828	0.70545|0.70545	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|111;153	.|Q9P000-2;Q9P000	.|.;COMD9_HUMAN	A|L	141|153;153;111	.|ENSP00000263401:I153L;ENSP00000392510:I111L	ENSP00000435599:D141A|ENSP00000263401:I153L	D|I	-|-	2|1	0|0	COMMD9|COMMD9	36252898|36252898	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.495000|0.495000	0.33615|0.33615	2.843000|2.843000	0.48238|0.48238	2.147000|2.147000	0.66899|0.66899	0.533000|0.533000	0.62120|0.62120	GAT|ATC	-	HMMPfam_HCaRG		0.527	COMMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COMMD9	protein_coding	OTTHUMT00000389196.1	T	NM_014186	Missense_Mutation	36252898	-1	no_errors	NM_014186	genbank	human	validated	54_36p	missense	SNP	1.000	G
HSPB9	94086	genome.wustl.edu	37	17	40275327	40275327	+	Silent	SNP	G	G	A			TCGA-29-1698-01A-01W-0633-09	TCGA-29-1698-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13d549f0-e884-484c-9c42-0e030a751d83	7066096f-fff7-4e26-822c-93b3c5d7e795	g.chr17:40275327G>A	ENST00000355067.3	+	1	572	c.459G>A	c.(457-459)aaG>aaA	p.K153K	CTD-2132N18.3_ENST00000592574.1_Intron|KAT2A_ENST00000225916.5_5'Flank	NM_033194.2	NP_149971.1	Q9BQS6	HSPB9_HUMAN	heat shock protein, alpha-crystallin-related, B9	153					response to stress (GO:0006950)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	4		all_cancers(22;0.00064)|Breast(137;0.00104)|all_epithelial(22;0.00866)		BRCA - Breast invasive adenocarcinoma(366;0.124)		TCGGCTCTAAGGCTTCCAACC	0.627																																																0			17											52.0	53.0	53.0					17																	40275327		2202	4300	6502	37528853	SO:0001819	synonymous_variant	94086			AJ302068	CCDS11418.1	17q21	2011-09-02			ENSG00000197723	ENSG00000260325		"""Heat shock proteins / HSPB"""	30589	protein-coding gene	gene with protein product	"""cancer/testis antigen 51"""	608344				11470154, 12820654	Standard	NM_033194		Approved	CT51	uc002hyy.2	Q9BQS6	OTTHUMG00000133500	ENST00000355067.3:c.459G>A	17.37:g.40275327G>A			37528853	B3KSG6|Q52LB4	Silent	SNP	superfamily_HSP20-like chaperones,HMMPfam_HSP20	p.K153	ENST00000355067.3	37	c.459	CCDS11418.1	17																																																																																			-	NULL		0.627	HSPB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPB9	protein_coding	OTTHUMT00000257438.1	G	NM_033194		37528853	+1	no_errors	NM_033194	genbank	human	provisional	54_36p	silent	SNP	0.000	A
PAK6	56924	genome.wustl.edu	37	15	40568133	40568133	+	Silent	SNP	C	C	T			TCGA-29-1698-01A-01W-0633-09	TCGA-29-1698-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13d549f0-e884-484c-9c42-0e030a751d83	7066096f-fff7-4e26-822c-93b3c5d7e795	g.chr15:40568133C>T	ENST00000542403.2	+	9	1995	c.1884C>T	c.(1882-1884)tcC>tcT	p.S628S	PAK6_ENST00000260404.4_Silent_p.S628S|PAK6_ENST00000441369.1_Silent_p.S628S|PAK6_ENST00000453867.1_Silent_p.S628S|PAK6_ENST00000560346.1_Silent_p.S628S|PAK6_ENST00000455577.2_Silent_p.S583S|RP11-133K1.2_ENST00000558658.1_3'UTR	NM_001276717.1	NP_001263646.1	Q9NQU5	PAK6_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 6	628	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cytoskeleton organization (GO:0007010)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)		TACAGGTCTCCCCAGTGCTGC	0.557																																																0			15											89.0	87.0	88.0					15																	40568133		2203	4300	6503	38355425	SO:0001819	synonymous_variant	56924			AF276893	CCDS10054.1, CCDS61590.1	15q14	2008-06-17	2008-06-17		ENSG00000137843	ENSG00000137843			16061	protein-coding gene	gene with protein product		608110	"""p21(CDKN1A)-activated kinase 6"""			11278661	Standard	NM_020168		Approved	PAK5	uc001zlb.3	Q9NQU5	OTTHUMG00000129921	ENST00000542403.2:c.1884C>T	15.37:g.40568133C>T			38355425	A8K2G2|B3KYB0|G5E9R2	Silent	SNP	HMMPfam_PBD,HMMSmart_SM00285,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP	p.S628	ENST00000542403.2	37	c.1884	CCDS10054.1	15																																																																																			-	superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase		0.557	PAK6-004	NOVEL	alternative_3_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	PAK6	protein_coding	OTTHUMT00000418355.1	C			38355425	+1	no_errors	NM_020168	genbank	human	reviewed	54_36p	silent	SNP	0.999	T
KIAA0754	643314	genome.wustl.edu	37	1	39876373	39876373	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1698-01A-01W-0633-09	TCGA-29-1698-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13d549f0-e884-484c-9c42-0e030a751d83	7066096f-fff7-4e26-822c-93b3c5d7e795	g.chr1:39876373G>A	ENST00000530275.1	+	1	223	c.28G>A	c.(28-30)Gag>Aag	p.E10K	MACF1_ENST00000564288.1_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000545844.1_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	10										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGAATTTGCAGAGAGGATAGA	0.478																																																0			1											94.0	92.0	93.0					1																	39876373		1911	4128	6039	39648960	SO:0001583	missense	643314					1p34.2	2009-07-09				ENSG00000255103			29111	protein-coding gene	gene with protein product						9872452	Standard	NM_015038		Approved		uc009vvt.1	O94854		ENST00000530275.1:c.28G>A	1.37:g.39876373G>A	ENSP00000431179:p.Glu10Lys		39648960	E9PMC2|Q6ZSB2	Missense_Mutation	SNP	NULL	p.E146K	ENST00000530275.1	37	c.436		1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.701782	0.88924	.	.	ENSG00000255103	ENST00000530275	T	0.44083	0.93	4.88	4.88	0.63580	.	.	.	.	.	T	0.53916	0.1826	L	0.27053	0.805	0.34751	D	0.731728	D	0.89917	1.0	D	0.91635	0.999	T	0.67122	-0.5750	9	0.87932	D	0	.	18.0435	0.89325	0.0:0.0:1.0:0.0	.	10	O94854	K0754_HUMAN	K	10	ENSP00000431179:E10K	ENSP00000431179:E10K	E	+	1	0	RP4-562N20.1	39648960	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.076000	0.71267	2.260000	0.74910	0.555000	0.69702	GAG	-	NULL		0.478	KIAA0754-001	KNOWN	basic|appris_principal	protein_coding	KIAA0754	protein_coding	OTTHUMT00000392100.1	G	NM_015038		39648960	+1	no_errors	NM_015038	genbank	human	predicted	54_36p	missense	SNP	1.000	A
KCNQ4	9132	genome.wustl.edu	37	1	41270716	41270716	+	Intron	SNP	C	C	T	rs138226211	byFrequency	TCGA-29-1698-01A-01W-0633-09	TCGA-29-1698-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13d549f0-e884-484c-9c42-0e030a751d83	7066096f-fff7-4e26-822c-93b3c5d7e795	g.chr1:41270716C>T	ENST00000347132.5	+	2	396				RN7SL326P_ENST00000477493.2_RNA|KCNQ4_ENST00000509682.2_Intron	NM_004700.3|NM_172163.2	NP_004691.2|NP_751895.1	P56696	KCNQ4_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 4						inner ear morphogenesis (GO:0042472)|potassium ion transport (GO:0006813)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)		Ezogabine(DB04953)	aggtcagaaacggagcaggtc	0.507													T|||	16	0.00319489	0.0	0.0058	5008	,	,		17276	0.0		0.0109	False		,,,				2504	0.001															0			1																																								41043303	SO:0001627	intron_variant	0			AF105202	CCDS456.1	1p34	2012-07-05			ENSG00000117013	ENSG00000117013		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6298	protein-coding gene	gene with protein product		603537		DFNA2		10025409, 16382104	Standard	NM_004700		Approved	Kv7.4	uc001cgh.2	P56696	OTTHUMG00000007730	ENST00000347132.5:c.315-12221C>T	1.37:g.41270716C>T			41043303	O96025	RNA	SNP	-	NULL	ENST00000347132.5	37	NULL	CCDS456.1	1																																																																																			-	-		0.507	KCNQ4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ENSG00000222708	protein_coding	OTTHUMT00000020812.1	C	NM_004700		41043303	+1	no_errors	ENST00000410776	ensembl	human	novel	54_36p	rna	SNP	0.999	T
TBRG4	9238	genome.wustl.edu	37	7	45145251	45145251	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1698-01A-01W-0633-09	TCGA-29-1698-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13d549f0-e884-484c-9c42-0e030a751d83	7066096f-fff7-4e26-822c-93b3c5d7e795	g.chr7:45145251C>T	ENST00000258770.3	-	3	645	c.524G>A	c.(523-525)cGc>cAc	p.R175H	SNORA5A_ENST00000384111.1_RNA|TBRG4_ENST00000494076.1_Missense_Mutation_p.R175H|SNORA5B_ENST00000363786.1_RNA|SNORA5C_ENST00000364902.1_RNA|TBRG4_ENST00000395655.4_Missense_Mutation_p.R175H|TBRG4_ENST00000471142.1_5'Flank|TBRG4_ENST00000361278.3_Missense_Mutation_p.R175H	NM_004749.3	NP_004740.2	Q969Z0	TBRG4_HUMAN	transforming growth factor beta regulator 4	175					cell cycle arrest (GO:0007050)|cellular respiration (GO:0045333)|positive regulation of cell proliferation (GO:0008284)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			cervix(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(2)	17						CTTCCGCATGCGCCAGCGGAC	0.632																																																0			7											77.0	74.0	75.0					7																	45145251		2203	4300	6503	45111776	SO:0001583	missense	9238			AB023165	CCDS5501.1, CCDS5502.1	7p13	2006-07-07			ENSG00000136270	ENSG00000136270			17443	protein-coding gene	gene with protein product	"""FAST kinase domains 4"", ""cell cycle progression 2 protein"""	611325				9383053	Standard	NM_004749		Approved	Cpr2, KIAA0948, H_TD2522F11.8, FASTKD4	uc011kcd.3	Q969Z0	OTTHUMG00000129247	ENST00000258770.3:c.524G>A	7.37:g.45145251C>T	ENSP00000258770:p.Arg175His		45111776	A4D2L2|A4D2L3|D3DVL5|D3DVL6|O14710|Q53GI8|Q8NDM4|Q9BUC6|Q9Y2F6	Missense_Mutation	SNP	HMMPfam_FAST_1,HMMPfam_FAST_2,HMMPfam_RAP	p.R175H	ENST00000258770.3	37	c.524	CCDS5501.1	7	.	.	.	.	.	.	.	.	.	.	C	29.5	5.011622	0.93346	.	.	ENSG00000136270	ENST00000258770;ENST00000361278;ENST00000395655;ENST00000494076;ENST00000478532;ENST00000461363	T;T;T;T;T;T	0.41065	1.01;1.01;1.01;1.01;1.01;1.01	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.65228	0.2671	M	0.76328	2.33	0.52501	D	0.999956	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.995	T	0.63559	-0.6610	10	0.42905	T	0.14	.	16.6857	0.85304	0.0:1.0:0.0:0.0	.	186;175;175	B4DU42;Q969Z0-2;Q969Z0	.;.;TBRG4_HUMAN	H	175;175;175;175;140;121	ENSP00000258770:R175H;ENSP00000354992:R175H;ENSP00000379016:R175H;ENSP00000420597:R175H;ENSP00000418631:R140H;ENSP00000417743:R121H	ENSP00000258770:R175H	R	-	2	0	TBRG4	45111776	1.000000	0.71417	0.969000	0.41365	0.957000	0.61999	6.786000	0.75094	2.718000	0.92993	0.655000	0.94253	CGC	-	NULL		0.632	TBRG4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	TBRG4	protein_coding	OTTHUMT00000251351.1	C	NM_030900		45111776	-1	no_errors	NM_004749	genbank	human	validated	54_36p	missense	SNP	0.993	T
C11orf49	79096	genome.wustl.edu	37	11	46958373	46958373	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1698-01A-01W-0633-09	TCGA-29-1698-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13d549f0-e884-484c-9c42-0e030a751d83	7066096f-fff7-4e26-822c-93b3c5d7e795	g.chr11:46958373G>T	ENST00000278460.7	+	1	76	c.17G>T	c.(16-18)cGc>cTc	p.R6L	C11orf49_ENST00000536126.1_5'UTR|C11orf49_ENST00000543718.1_5'UTR|C11orf49_ENST00000395460.2_Missense_Mutation_p.R6L|C11orf49_ENST00000378615.3_Missense_Mutation_p.R6L|C11orf49_ENST00000378618.2_Missense_Mutation_p.R6L	NM_001003677.1|NM_024113.3	NP_001003677.1|NP_077018.1	Q9H6J7	CK049_HUMAN	chromosome 11 open reading frame 49	6						nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(1)	11						AGTCCGGAGCGCCTAGCCCTA	0.607																																																0			11											35.0	36.0	35.0					11																	46958373		2201	4299	6500	46914949	SO:0001583	missense	79096			AL136575	CCDS7925.1, CCDS31479.1, CCDS31480.1, CCDS41641.1	11p11.2	2006-02-02			ENSG00000149179	ENSG00000149179			28720	protein-coding gene	gene with protein product							Standard	NM_001003677		Approved	FLJ22210, MGC4707	uc001ndr.4	Q9H6J7	OTTHUMG00000166725	ENST00000278460.7:c.17G>T	11.37:g.46958373G>T	ENSP00000278460:p.Arg6Leu		46914949	D3DQQ8|E9PAX7|Q7L077|Q96CS8|Q9BQH4|Q9BUW5	Missense_Mutation	SNP	NULL	p.R6L	ENST00000278460.7	37	c.17	CCDS7925.1	11	.	.	.	.	.	.	.	.	.	.	G	33	5.284015	0.95489	.	.	ENSG00000149179	ENST00000278460;ENST00000378618;ENST00000395460;ENST00000378615	.	.	.	5.52	5.52	0.82312	.	0.180207	0.46758	D	0.000271	T	0.76807	0.4039	M	0.64997	1.995	0.80722	D	1	D;D;D	0.63046	0.992;0.992;0.992	D;D;D	0.72982	0.979;0.969;0.969	T	0.77373	-0.2612	9	0.66056	D	0.02	-24.7592	16.4664	0.84080	0.0:0.0:1.0:0.0	.	6;6;6	E9PAX7;Q9H6J7-2;Q9H6J7	.;.;CK049_HUMAN	L	6	.	ENSP00000278460:R6L	R	+	2	0	C11orf49	46914949	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.218000	0.65257	2.873000	0.98535	0.563000	0.77884	CGC	-	NULL		0.607	C11orf49-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	C11orf49	protein_coding	OTTHUMT00000391218.1	G	NM_024113		46914949	+1	no_errors	NM_001003677	genbank	human	validated	54_36p	missense	SNP	1.000	T
ERCC6	2074	genome.wustl.edu	37	10	50701242	50701242	+	Nonsense_Mutation	SNP	C	C	T			TCGA-29-1698-01A-01W-0633-09	TCGA-29-1698-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13d549f0-e884-484c-9c42-0e030a751d83	7066096f-fff7-4e26-822c-93b3c5d7e795	g.chr10:50701242C>T	ENST00000355832.5	-	8	1820	c.1742G>A	c.(1741-1743)tGg>tAg	p.W581*	ERCC6_ENST00000542458.1_Intron	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6	581	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|photoreceptor cell maintenance (GO:0045494)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of protein tyrosine kinase activity (GO:0061098)|pyrimidine dimer repair (GO:0006290)|regulation of DNA-templated transcription, elongation (GO:0032784)|response to gamma radiation (GO:0010332)|response to oxidative stress (GO:0006979)|response to superoxide (GO:0000303)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein N-terminus binding (GO:0047485)|protein tyrosine kinase activator activity (GO:0030296)			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TTCCTTCACCCACTGATGCAT	0.448								Direct reversal of damage;Nucleotide excision repair (NER)																																								0			10											120.0	104.0	110.0					10																	50701242		2203	4300	6503	50371248	SO:0001587	stop_gained	2074			L04791	CCDS7229.1	10q11	2014-09-17	2014-03-07		ENSG00000225830	ENSG00000225830			3438	protein-coding gene	gene with protein product	"""Cockayne syndrome B protein"""	609413	"""excision repair cross-complementing rodent repair deficiency, complementation group 6"""	CKN2		1339317, 19179336	Standard	NM_000124		Approved	CSB, RAD26, ARMD5	uc001jhs.5	Q03468	OTTHUMG00000018195	ENST00000355832.5:c.1742G>A	10.37:g.50701242C>T	ENSP00000348089:p.Trp581*		50371248	D3DX94|Q5W0L9	Nonsense_Mutation	SNP	superfamily_SSF52540,HMMSmart_DEXDc,HMMPfam_SNF2_N,HMMSmart_HELICc,HMMPfam_Helicase_C	p.W581*	ENST00000355832.5	37	c.1742	CCDS7229.1	10	.	.	.	.	.	.	.	.	.	.	C	39	7.831292	0.98513	.	.	ENSG00000225830	ENST00000355832	.	.	.	5.31	5.31	0.75309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.7414	19.3425	0.94349	0.0:1.0:0.0:0.0	.	.	.	.	X	581	.	ENSP00000348089:W581X	W	-	2	0	ERCC6	50371248	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.643000	0.89663	0.557000	0.71058	TGG	-	superfamily_SSF52540,HMMSmart_DEXDc,HMMPfam_SNF2_N		0.448	ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERCC6	protein_coding	OTTHUMT00000047990.1	C	NM_000124		50371248	-1	no_errors	NM_000124	genbank	human	reviewed	54_36p	nonsense	SNP	1.000	T
KRT3	3850	genome.wustl.edu	37	12	53189446	53189446	+	Silent	SNP	C	C	T	rs117364830	byFrequency	TCGA-29-1698-01A-01W-0633-09	TCGA-29-1698-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13d549f0-e884-484c-9c42-0e030a751d83	7066096f-fff7-4e26-822c-93b3c5d7e795	g.chr12:53189446C>T	ENST00000417996.2	-	1	455	c.381G>A	c.(379-381)ggG>ggA	p.G127G	KRT3_ENST00000309505.3_Silent_p.G127G	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	127	Gly-rich.|Head.				epithelial cell differentiation (GO:0030855)|intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						agccaccagcccctccaaagc	0.632																																																0			12											148.0	189.0	175.0					12																	53189446		2189	4287	6476	51475713	SO:0001819	synonymous_variant	3850				CCDS44895.1	12q13.13	2013-01-16			ENSG00000186442	ENSG00000186442		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6440	protein-coding gene	gene with protein product	"""keratin, type II cytoskeletal 3"", ""cytokeratin 3"""	148043				7510223, 16831889	Standard	NM_057088		Approved	CK3, K3	uc001say.3	P12035	OTTHUMG00000169799	ENST00000417996.2:c.381G>A	12.37:g.53189446C>T			51475713	A6NIS2|Q701L8	Silent	SNP	HMMPfam_Filament,superfamily_Prefoldin,PatternScan_IF	p.G127	ENST00000417996.2	37	c.381	CCDS44895.1	12																																																																																			-	NULL		0.632	KRT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KRT3	protein_coding	OTTHUMT00000405930.1	C	NM_057088		51475713	-1	no_errors	NM_057088	genbank	human	reviewed	54_36p	silent	SNP	0.000	T
SCAF1	58506	genome.wustl.edu	37	19	50154345	50154345	+	Silent	SNP	C	C	A			TCGA-29-1698-01A-01W-0633-09	TCGA-29-1698-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13d549f0-e884-484c-9c42-0e030a751d83	7066096f-fff7-4e26-822c-93b3c5d7e795	g.chr19:50154345C>A	ENST00000360565.3	+	7	823	c.699C>A	c.(697-699)ccC>ccA	p.P233P		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	233	Pro-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		CCTTCCACCCCACCGACGAGG	0.672																																																0			19											39.0	41.0	40.0					19																	50154345		2200	4298	6498	54846157	SO:0001819	synonymous_variant	58506			AK024444	CCDS33074.1	19q13.3-q13.4	2011-01-10			ENSG00000126461	ENSG00000126461			30403	protein-coding gene	gene with protein product						11461075	Standard	NM_021228		Approved	SR-A1, FLJ00034	uc002poq.3	Q9H7N4		ENST00000360565.3:c.699C>A	19.37:g.50154345C>A			54846157	Q7Z5V7|Q8WVA1|Q9NR59	Silent	SNP	NULL	p.P233	ENST00000360565.3	37	c.699	CCDS33074.1	19																																																																																			-	NULL		0.672	SCAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAF1	protein_coding	OTTHUMT00000465764.1	C	NM_021228		54846157	+1	no_errors	NM_021228	genbank	human	provisional	54_36p	silent	SNP	1.000	A
SIGLEC7	27036	genome.wustl.edu	37	19	51649164	51649164	+	Silent	SNP	T	T	C			TCGA-29-1698-01A-01W-0633-09	TCGA-29-1698-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13d549f0-e884-484c-9c42-0e030a751d83	7066096f-fff7-4e26-822c-93b3c5d7e795	g.chr19:51649164T>C	ENST00000317643.6	+	4	882	c.813T>C	c.(811-813)tcT>tcC	p.S271S	SIGLEC7_ENST00000305628.7_Silent_p.S178S|SIGLEC7_ENST00000600577.1_Intron	NM_014385.2	NP_055200.1	Q9Y286	SIGL7_HUMAN	sialic acid binding Ig-like lectin 7	271	Ig-like C2-type 2.				cell adhesion (GO:0007155)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		AGGGCCAGTCTCTGCGCTTGG	0.542																																																0			19											153.0	148.0	149.0					19																	51649164		2203	4300	6503	56340976	SO:0001819	synonymous_variant	27036			AF170485	CCDS12826.1, CCDS42601.1, CCDS62771.1	19q13.41	2014-03-20			ENSG00000168995	ENSG00000168995		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10876	protein-coding gene	gene with protein product		604410	"""sialic acid binding Ig-like lectin 19, pseudogene"", ""sialic acid binding Ig-like lectin, pseudogene 2"""	SIGLEC19P, SIGLECP2		10567377	Standard	NM_001277201		Approved	SIGLEC-7, p75/AIRM1, QA79, CD328	uc002pvv.1	Q9Y286	OTTHUMG00000182895	ENST00000317643.6:c.813T>C	19.37:g.51649164T>C			56340976	Q9NZQ1|Q9UJ86|Q9UJ87|Q9Y502	Silent	SNP	superfamily_Immunoglobulin,HMMPfam_V-set,HMMSmart_SM00409,HMMPfam_C2-set_2,HMMSmart_SM00408,HMMPfam_ig	p.S271	ENST00000317643.6	37	c.813	CCDS12826.1	19																																																																																			-	superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig		0.542	SIGLEC7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SIGLEC7	protein_coding	OTTHUMT00000464226.2	T	NM_016543		56340976	+1	no_errors	NM_014385	genbank	human	validated	54_36p	silent	SNP	0.166	C
SLMAP	7871	genome.wustl.edu	37	3	57847690	57847690	+	Missense_Mutation	SNP	T	T	A			TCGA-29-1698-01A-01W-0633-09	TCGA-29-1698-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13d549f0-e884-484c-9c42-0e030a751d83	7066096f-fff7-4e26-822c-93b3c5d7e795	g.chr3:57847690T>A	ENST00000428312.1	+	9	937	c.843T>A	c.(841-843)aaT>aaA	p.N281K	SLMAP_ENST00000449503.2_Missense_Mutation_p.N281K|SLMAP_ENST00000295951.3_Missense_Mutation_p.N281K|SLMAP_ENST00000416870.1_5'UTR|SLMAP_ENST00000295952.3_Missense_Mutation_p.N281K|SLMAP_ENST00000383718.3_Missense_Mutation_p.N281K			Q14BN4	SLMAP_HUMAN	sarcolemma associated protein	281					muscle contraction (GO:0006936)	cytoskeleton (GO:0005856)|integral component of plasma membrane (GO:0005887)|smooth endoplasmic reticulum (GO:0005790)				endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2)	18				BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)		GTCTGAGTAATACTGAAGATG	0.294																																																0			3											81.0	87.0	85.0					3																	57847690		2203	4300	6503	57822730	SO:0001583	missense	7871			AF100750	CCDS33774.1	3p21.2-p14.3	2008-07-18			ENSG00000163681	ENSG00000163681			16643	protein-coding gene	gene with protein product	"""Sarcolemmal-associated protein"""	602701				9405447, 11042152	Standard	NM_007159		Approved	SLAP, KIAA1601	uc003djd.1	Q14BN4	OTTHUMG00000133764	ENST00000428312.1:c.843T>A	3.37:g.57847690T>A	ENSP00000398661:p.Asn281Lys		57822730	Q14C95|Q6AI54|Q6UXC9|Q6ZVQ8|Q8NCW9|Q9H297|Q9HCH1|Q9Y681	Missense_Mutation	SNP	superfamily_SMAD_FHA,HMMSmart_FHA,HMMPfam_FHA,HMMPfam_Prefoldin_2,PatternScan_FETUIN_2	p.N281K	ENST00000428312.1	37	c.843		3	.	.	.	.	.	.	.	.	.	.	T	21.1	4.097253	0.76870	.	.	ENSG00000163681	ENST00000295951;ENST00000295952;ENST00000383718;ENST00000428312;ENST00000449503	T;T;T;T;T	0.50277	0.75;0.75;0.75;0.75;0.75	5.71	2.01	0.26516	.	0.000000	0.85682	D	0.000000	T	0.50480	0.1618	L	0.58101	1.795	0.80722	D	1	P;D;D;B	0.63046	0.628;0.992;0.984;0.097	P;P;P;B	0.58520	0.519;0.84;0.828;0.138	T	0.52335	-0.8589	10	0.08179	T	0.78	-3.4692	8.7474	0.34594	0.0:0.3556:0.0:0.6444	.	281;281;281;281	Q14BN4-2;Q14BN4;Q14BN4-3;Q14BN4-6	.;SLMAP_HUMAN;.;.	K	281	ENSP00000295951:N281K;ENSP00000295952:N281K;ENSP00000373224:N281K;ENSP00000398661:N281K;ENSP00000412945:N281K	ENSP00000295951:N281K	N	+	3	2	SLMAP	57822730	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.808000	0.38912	0.403000	0.25479	0.533000	0.62120	AAT	-	NULL		0.294	SLMAP-013	KNOWN	basic	protein_coding	SLMAP	protein_coding	OTTHUMT00000351584.1	T	NM_007159		57822730	+1	no_errors	NM_007159	genbank	human	validated	54_36p	missense	SNP	1.000	A
FLNB	2317	genome.wustl.edu	37	3	57994509	57994509	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1698-01A-01W-0633-09	TCGA-29-1698-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13d549f0-e884-484c-9c42-0e030a751d83	7066096f-fff7-4e26-822c-93b3c5d7e795	g.chr3:57994509G>T	ENST00000295956.4	+	1	383	c.218G>T	c.(217-219)cGc>cTc	p.R73L	FLNB_ENST00000358537.3_Missense_Mutation_p.R73L|FLNB_ENST00000490882.1_Missense_Mutation_p.R73L|FLNB_ENST00000357272.4_Missense_Mutation_p.R73L|FLNB_ENST00000348383.5_Missense_Mutation_p.R73L|FLNB_ENST00000429972.2_Missense_Mutation_p.R73L	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	73	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CCCACCTTTCGCCAGATGCAG	0.642																																																0			3											125.0	127.0	126.0					3																	57994509		2203	4300	6503	57969549	SO:0001583	missense	2317			AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"""actin binding protein 278"""	603381	"""filamin B, beta (actin binding protein 278)"", ""Larsen syndrome 1 (autosomal dominant)"""	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.218G>T	3.37:g.57994509G>T	ENSP00000295956:p.Arg73Leu		57969549	B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Missense_Mutation	SNP	superfamily_Calponin-homology,HMMPfam_CH,PatternScan_ACTININ_1,HMMSmart_CH,PatternScan_ACTININ_2,superfamily_Ig_E-set,HMMPfam_Filamin,HMMSmart_IG_FLMN	p.R73L	ENST00000295956.4	37	c.218	CCDS2885.1	3	.	.	.	.	.	.	.	.	.	.	G	34	5.382236	0.95967	.	.	ENSG00000136068	ENST00000295956;ENST00000490882;ENST00000358537;ENST00000429972;ENST00000348383;ENST00000357272	D;D;D;D;D;D	0.96265	-3.96;-3.96;-3.96;-3.96;-3.96;-3.96	5.52	5.52	0.82312	Calponin homology domain (5);	0.158085	0.45867	D	0.000331	D	0.98356	0.9454	M	0.93420	3.415	0.80722	D	1	B;D;P;P	0.55172	0.277;0.97;0.861;0.861	B;P;B;B	0.56751	0.03;0.805;0.34;0.34	D	0.99353	1.0915	10	0.87932	D	0	.	19.0468	0.93022	0.0:0.0:1.0:0.0	.	73;73;73;73	O75369-2;B2ZZ83;Q60FE7;O75369	.;.;.;FLNB_HUMAN	L	73	ENSP00000295956:R73L;ENSP00000420213:R73L;ENSP00000351339:R73L;ENSP00000415599:R73L;ENSP00000232447:R73L;ENSP00000349819:R73L	ENSP00000295956:R73L	R	+	2	0	FLNB	57969549	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.614000	0.98353	2.614000	0.88457	0.585000	0.79938	CGC	-	superfamily_Calponin-homology,HMMPfam_CH,HMMSmart_CH		0.642	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLNB	protein_coding	OTTHUMT00000353569.1	G	NM_001457		57969549	+1	no_errors	NM_001457	genbank	human	validated	54_36p	missense	SNP	1.000	T
SPTBN2	6712	genome.wustl.edu	37	11	66455659	66455659	+	Missense_Mutation	SNP	A	A	T			TCGA-29-1698-01A-01W-0633-09	TCGA-29-1698-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13d549f0-e884-484c-9c42-0e030a751d83	7066096f-fff7-4e26-822c-93b3c5d7e795	g.chr11:66455659A>T	ENST00000533211.1	-	32	6686	c.6355T>A	c.(6355-6357)Tct>Act	p.S2119T	SPTBN2_ENST00000529997.1_Missense_Mutation_p.S2119T|SPTBN2_ENST00000309996.2_Missense_Mutation_p.S2119T			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	2119					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						GTGGTGTCAGAAGCTGTCTGG	0.637																																																0			11											46.0	51.0	49.0					11																	66455659		2200	4295	6495	66212235	SO:0001583	missense	6712			AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"""Pleckstrin homology (PH) domain containing"""	11276	protein-coding gene	gene with protein product		604985	"""spinocerebellar ataxia 5"""	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.6355T>A	11.37:g.66455659A>T	ENSP00000432568:p.Ser2119Thr		66212235	O14872|O14873	Missense_Mutation	SNP	superfamily_Calponin-homology domain CH-domain,HMMPfam_CH,PatternScan_ACTININ_1,HMMSmart_SM00033,PatternScan_ACTININ_2,superfamily_Spectrin repeat,HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233	p.S2119T	ENST00000533211.1	37	c.6355	CCDS8150.1	11	.	.	.	.	.	.	.	.	.	.	A	8.508	0.865767	0.17250	.	.	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997;ENST00000443262	T;T;T	0.70282	-0.47;-0.47;-0.46	5.3	2.32	0.28847	.	0.438585	0.22682	N	0.056925	T	0.43743	0.1261	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.13407	0.009	T	0.19811	-1.0294	10	0.18710	T	0.47	.	6.1955	0.20548	0.1785:0.1568:0.6647:0.0	.	2119	O15020	SPTN2_HUMAN	T	2119;2119;2119;663	ENSP00000432568:S2119T;ENSP00000311489:S2119T;ENSP00000433593:S2119T	ENSP00000311489:S2119T	S	-	1	0	SPTBN2	66212235	0.024000	0.19004	0.011000	0.14972	0.278000	0.26855	1.273000	0.33121	0.716000	0.32124	-0.132000	0.14878	TCT	-	HMMSmart_SM00150		0.637	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN2	protein_coding	OTTHUMT00000393892.2	A	NM_006946		66212235	-1	no_errors	NM_006946	genbank	human	validated	54_36p	missense	SNP	0.000	T
LINC00469	283982	genome.wustl.edu	37	17	71819860	71819860	+	lincRNA	SNP	G	G	C	rs189413291	byFrequency	TCGA-29-1698-01A-01W-0633-09	TCGA-29-1698-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13d549f0-e884-484c-9c42-0e030a751d83	7066096f-fff7-4e26-822c-93b3c5d7e795	g.chr17:71819860G>C	ENST00000321800.7	-	0	177							Q8N7U9	CQ054_HUMAN	long intergenic non-protein coding RNA 469																		GTTCCAGCTGGAGTCTGCAAA	0.517													G|||	13	0.00259585	0.0098	0.0	5008	,	,		18515	0.0		0.0	False		,,,				2504	0.0															0			17																																								69331455			283982			AK097638		17q25.1	2012-10-12	2011-08-31	2011-08-31	ENSG00000177338	ENSG00000177338		"""Long non-coding RNAs"""	26863	non-coding RNA	RNA, long non-coding			"""chromosome 17 open reading frame 54"""	C17orf54			Standard	NR_027146		Approved	FLJ40319	uc010dfo.2	Q8N7U9	OTTHUMG00000167833		17.37:g.71819860G>C			69331455	Q495E4	Silent	SNP	NULL	p.L36	ENST00000321800.7	37	c.108		17																																																																																			-	NULL		0.517	LINC00469-001	KNOWN	basic	lincRNA	C17orf54	lincRNA	OTTHUMT00000396490.1	G	NM_182564		69331455	-1	no_errors	ENST00000321800	ensembl	human	known	54_36p	silent	SNP	0.000	C
SMOC1	64093	genome.wustl.edu	37	14	70420157	70420157	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1698-01A-01W-0633-09	TCGA-29-1698-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13d549f0-e884-484c-9c42-0e030a751d83	7066096f-fff7-4e26-822c-93b3c5d7e795	g.chr14:70420157C>T	ENST00000381280.4	+	3	539	c.286C>T	c.(286-288)Cgc>Tgc	p.R96C	SMOC1_ENST00000361956.3_Missense_Mutation_p.R96C	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN	SPARC related modular calcium binding 1	96	Thyroglobulin type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00500}.				cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|eye development (GO:0001654)|limb development (GO:0060173)|positive regulation of cell-substrate adhesion (GO:0010811)|regulation of osteoblast differentiation (GO:0045667)|signal transduction (GO:0007165)	basement membrane (GO:0005604)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		GAGCAAGTGTCGCCTGGAGCG	0.557																																																0			14											116.0	114.0	114.0					14																	70420157		2203	4300	6503	69489910	SO:0001583	missense	64093			AJ249900	CCDS9798.1, CCDS32110.1	14q24.1	2010-08-05			ENSG00000198732	ENSG00000198732			20318	protein-coding gene	gene with protein product		608488				12130637	Standard	NM_001034852		Approved		uc001xlt.2	Q9H4F8		ENST00000381280.4:c.286C>T	14.37:g.70420157C>T	ENSP00000370680:p.Arg96Cys		69489910	A8K1S3|B2R7P5|Q96F78	Missense_Mutation	SNP	superfamily_Kazal-type serine protease inhibitors,HMMSmart_SM00280,HMMPfam_Kazal_1,superfamily_Thyroglobulin type-1 domain,HMMPfam_Thyroglobulin_1,PatternScan_THYROGLOBULIN_1_1,HMMSmart_SM00211,superfamily_EF-hand,PatternScan_EF_HAND_1	p.R96C	ENST00000381280.4	37	c.286	CCDS9798.1	14	.	.	.	.	.	.	.	.	.	.	C	16.51	3.143519	0.57044	.	.	ENSG00000198732	ENST00000361956;ENST00000381280	T;T	0.65916	-0.18;-0.18	5.62	4.71	0.59529	Thyroglobulin type-1 (3);	0.185034	0.48286	D	0.000194	T	0.74884	0.3775	M	0.71871	2.18	0.58432	D	0.999999	D;D	0.89917	0.998;1.0	D;D	0.65010	0.931;0.91	T	0.76716	-0.2857	10	0.56958	D	0.05	-9.8869	11.994	0.53191	0.1369:0.7314:0.1317:0.0	.	96;96	Q9H4F8-2;Q9H4F8	.;SMOC1_HUMAN	C	96	ENSP00000355110:R96C;ENSP00000370680:R96C	ENSP00000355110:R96C	R	+	1	0	SMOC1	69489910	1.000000	0.71417	1.000000	0.80357	0.594000	0.36715	2.708000	0.47152	1.323000	0.45263	0.591000	0.81541	CGC	-	superfamily_Thyroglobulin type-1 domain,HMMPfam_Thyroglobulin_1		0.557	SMOC1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	SMOC1	protein_coding	OTTHUMT00000412467.1	C			69489910	+1	no_errors	NM_001034852	genbank	human	validated	54_36p	missense	SNP	1.000	T
GGA3	23163	genome.wustl.edu	37	17	73239646	73239646	+	Silent	SNP	C	C	A			TCGA-29-1698-01A-01W-0633-09	TCGA-29-1698-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13d549f0-e884-484c-9c42-0e030a751d83	7066096f-fff7-4e26-822c-93b3c5d7e795	g.chr17:73239646C>A	ENST00000245541.6	-	5	522	c.306G>T	c.(304-306)ctG>ctT	p.L102L	GGA3_ENST00000538886.1_5'UTR|GGA3_ENST00000582717.1_Silent_p.L30L|GGA3_ENST00000351904.7_Silent_p.L69L|GGA3_ENST00000582486.1_Silent_p.L30L|GGA3_ENST00000537686.1_Silent_p.L102L|GGA3_ENST00000578348.1_5'UTR|GGA3_ENST00000579743.1_5'UTR	NM_138619.2	NP_619525.1	Q9NZ52	GGA3_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 3	102	Binds to ARF1 (in long isoform).|VHS. {ECO:0000255|PROSITE- ProRule:PRU00218}.				intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|endosome (GO:0005768)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)			breast(2)|endometrium(3)|large_intestine(4)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	20			all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)			CCCTGTCCCCCAGGTACTACA	0.522																																																0			17											114.0	93.0	100.0					17																	73239646		2203	4300	6503	70751241	SO:0001819	synonymous_variant	23163			AF190864	CCDS11716.1, CCDS11717.1, CCDS54164.1, CCDS58597.1	17q25	2010-02-12	2010-02-12			ENSG00000125447			17079	protein-coding gene	gene with protein product		606006				10747089, 10749927	Standard	NR_033345		Approved	KIAA0154	uc002jni.2	Q9NZ52		ENST00000245541.6:c.306G>T	17.37:g.73239646C>A			70751241	B7Z7E2|B7Z7M9|J3KRN0|Q15017|Q6IS16|Q9UJY3	Silent	SNP	HMMPfam_VHS,superfamily_ENTH/VHS domain,HMMSmart_SM00288,superfamily_GAT-like domain,HMMPfam_GAT,superfamily_Clathrin adaptor appendage domain,HMMPfam_Alpha_adaptinC2,HMMSmart_SM00809	p.L102	ENST00000245541.6	37	c.306	CCDS11717.1	17																																																																																			-	HMMPfam_VHS,superfamily_ENTH/VHS domain,HMMSmart_SM00288		0.522	GGA3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GGA3	protein_coding	OTTHUMT00000446645.1	C	NM_138619		70751241	-1	no_errors	NM_138619	genbank	human	reviewed	54_36p	silent	SNP	1.000	A
NUMA1	4926	genome.wustl.edu	37	11	71724258	71724258	+	Missense_Mutation	SNP	C	C	T	rs370967498		TCGA-29-1698-01A-01W-0633-09	TCGA-29-1698-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13d549f0-e884-484c-9c42-0e030a751d83	7066096f-fff7-4e26-822c-93b3c5d7e795	g.chr11:71724258C>T	ENST00000393695.3	-	15	4622	c.4291G>A	c.(4291-4293)Gcc>Acc	p.A1431T	RP11-849H4.4_ENST00000502284.1_RNA|NUMA1_ENST00000351960.6_Intron|NUMA1_ENST00000358965.6_Missense_Mutation_p.A1431T	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1											central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						GCATAGCTGGCCTTCTCTGCC	0.657			T	RARA	APL																																		Dom	yes		11	11q13	4926	nuclear mitotic apparatus protein 1		L	0			11						C	THR/ALA	0,4400		0,0,2200	56.0	58.0	57.0		4291	5.1	1.0	11		57	1,8585	1.2+/-3.3	0,1,4292	no	missense	NUMA1	NM_006185.2	58	0,1,6492	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	1431/2116	71724258	1,12985	2200	4293	6493	71401906	SO:0001583	missense	4926			Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.4291G>A	11.37:g.71724258C>T	ENSP00000377298:p.Ala1431Thr		71401906		Missense_Mutation	SNP	superfamily_Prefoldin	p.A1431T	ENST00000393695.3	37	c.4291	CCDS31633.1	11	.	.	.	.	.	.	.	.	.	.	C	18.89	3.719859	0.68844	0.0	1.16E-4	ENSG00000137497	ENST00000358965;ENST00000393695;ENST00000359652;ENST00000536544	T;T	0.14266	2.52;2.52	5.14	5.14	0.70334	.	0.000000	0.53938	D	0.000051	T	0.18087	0.0434	N	0.19112	0.55	0.32687	N	0.514748	D;D;D;D	0.65815	0.988;0.995;0.965;0.988	P;P;P;P	0.60682	0.878;0.843;0.647;0.878	T	0.05321	-1.0892	10	0.54805	T	0.06	.	10.0855	0.42415	0.0:0.8756:0.0:0.1244	.	1437;915;1431;1431	Q4LE64;Q59HB8;Q14980-2;Q14980	.;.;.;NUMA1_HUMAN	T	1431;1431;994;400	ENSP00000351851:A1431T;ENSP00000377298:A1431T	ENSP00000351851:A1431T	A	-	1	0	NUMA1	71401906	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.920000	0.48844	2.665000	0.90641	0.655000	0.94253	GCC	-	NULL		0.657	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUMA1	protein_coding	OTTHUMT00000395769.1	C			71401906	-1	no_errors	NM_006185	genbank	human	validated	54_36p	missense	SNP	0.981	T
XIST	7503	genome.wustl.edu	37	X	73063012	73063012	+	lincRNA	SNP	G	G	T			TCGA-29-1698-01A-01W-0633-09	TCGA-29-1698-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13d549f0-e884-484c-9c42-0e030a751d83	7066096f-fff7-4e26-822c-93b3c5d7e795	g.chrX:73063012G>T	ENST00000429829.1	-	0	9576					NR_001564.2				X inactive specific transcript (non-protein coding)																		GAAGTTTTGAGTAGTCAGCAG	0.453																																																0			X											64.0	62.0	63.0					X																	73063012		876	1991	2867	72979737			7503			M97168		Xq13.2	2013-12-18	2013-02-07		ENSG00000229807	ENSG00000229807		"""Long non-coding RNAs"", ""-"""	12810	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 1"""	314670	"""X (inactive)-specific transcript"", ""X (inactive)-specific transcript (non-protein coding)"""	DXS399E		1985261, 2034279	Standard	NR_001564		Approved	NCRNA00001, DXS1089, swd66, LINC00001	uc004ebm.2		OTTHUMG00000021839		X.37:g.73063012G>T			72979737		RNA	SNP	-	NULL	ENST00000429829.1	37	NULL		X																																																																																			-	-		0.453	XIST-001	KNOWN	basic	lincRNA	XIST	lincRNA	OTTHUMT00000057239.1	G	NR_001564		72979737	-1	no_errors	NR_001564	genbank	human	reviewed	54_36p	rna	SNP	0.007	T
CYB5R4	51167	genome.wustl.edu	37	6	84645963	84645963	+	Missense_Mutation	SNP	T	T	C			TCGA-29-1698-01A-01W-0633-09	TCGA-29-1698-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13d549f0-e884-484c-9c42-0e030a751d83	7066096f-fff7-4e26-822c-93b3c5d7e795	g.chr6:84645963T>C	ENST00000369681.5	+	12	1116	c.976T>C	c.(976-978)Tat>Cat	p.Y326H	CYB5R4_ENST00000479164.1_3'UTR	NM_016230.3	NP_057314.2	Q7L1T6	NB5R4_HUMAN	cytochrome b5 reductase 4	326	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				cell development (GO:0048468)|detection of oxygen (GO:0003032)|generation of precursor metabolites and energy (GO:0006091)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|NADP metabolic process (GO:0006739)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|superoxide metabolic process (GO:0006801)	endoplasmic reticulum (GO:0005783)|perinuclear region of cytoplasm (GO:0048471)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|NAD(P)H oxidase activity (GO:0016174)|NADPH-hemoprotein reductase activity (GO:0003958)|oxidoreductase activity, acting on NAD(P)H, heme protein as acceptor (GO:0016653)			breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	23		all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128)		BRCA - Breast invasive adenocarcinoma(397;0.0871)		AGTAAAGCCATATACACCTGT	0.303																																					Esophageal Squamous(86;1289 1332 25971 40349 52675)											0			6											43.0	44.0	44.0					6																	84645963		2203	4300	6503	84702682	SO:0001583	missense	51167			AF169803	CCDS5000.2	6q14.2	2012-09-19		2005-07-13	ENSG00000065615	ENSG00000065615	1.6.2.2		20147	protein-coding gene	gene with protein product		608343	"""NADPH cytochrome B5 oxidoreductase"""	NCB5OR		10611283	Standard	NM_016230		Approved	b5+b5R, dJ676J13.1	uc003pkf.3	Q7L1T6	OTTHUMG00000015118	ENST00000369681.5:c.976T>C	6.37:g.84645963T>C	ENSP00000358695:p.Tyr326His		84702682	B1AEM2|Q5TGI9|Q9NUE4|Q9UHI9	Missense_Mutation	SNP	superfamily_Cyt_B5,HMMPfam_Cyt-b5,PatternScan_CYTOCHROME_B5_1,superfamily_HSP20_chap,HMMPfam_CS,superfamily_Riboflavin_synthase_like_b-brl,HMMPfam_FAD_binding_6,superfamily_SSF52343,HMMPfam_NAD_binding_1	p.Y326H	ENST00000369681.5	37	c.976	CCDS5000.2	6	.	.	.	.	.	.	.	.	.	.	T	17.13	3.310579	0.60414	.	.	ENSG00000065615	ENST00000369681	D	0.98221	-4.8	4.92	3.72	0.42706	Riboflavin synthase-like beta-barrel (1);Ferredoxin reductase-type FAD-binding domain (1);Oxidoreductase, FAD-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99055	0.9676	H	0.95539	3.685	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99544	1.0964	10	0.87932	D	0	-18.9617	11.5952	0.50968	0.0:0.0:0.1498:0.8502	.	326	Q7L1T6	NB5R4_HUMAN	H	326	ENSP00000358695:Y326H	ENSP00000358695:Y326H	Y	+	1	0	CYB5R4	84702682	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.500000	0.66943	0.785000	0.33685	0.383000	0.25322	TAT	-	superfamily_Riboflavin_synthase_like_b-brl,HMMPfam_FAD_binding_6		0.303	CYB5R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYB5R4	protein_coding	OTTHUMT00000041362.4	T	NM_016230		84702682	+1	no_errors	NM_016230	genbank	human	validated	54_36p	missense	SNP	1.000	C
LDB3	11155	genome.wustl.edu	37	10	88446896	88446896	+	Missense_Mutation	SNP	G	G	A	rs374613600		TCGA-29-1698-01A-01W-0633-09	TCGA-29-1698-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13d549f0-e884-484c-9c42-0e030a751d83	7066096f-fff7-4e26-822c-93b3c5d7e795	g.chr10:88446896G>A	ENST00000372066.3	+	5	494	c.415G>A	c.(415-417)Gag>Aag	p.E139K	LDB3_ENST00000372056.4_Missense_Mutation_p.E254K|LDB3_ENST00000542786.1_3'UTR|LDB3_ENST00000310944.6_Intron|LDB3_ENST00000429277.2_Missense_Mutation_p.E254K|LDB3_ENST00000361373.4_Intron|LDB3_ENST00000458213.2_Missense_Mutation_p.E139K|LDB3_ENST00000263066.6_Missense_Mutation_p.E139K|LDB3_ENST00000352360.5_Intron	NM_001080116.1	NP_001073585.1			LIM domain binding 3											breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						CAAGCCCATCGAGGTGAAGGG	0.637													G|||	1	0.000199681	0.0	0.0	5008	,	,		19489	0.0		0.0	False		,,,				2504	0.001															0			10											139.0	162.0	154.0					10																	88446896		2128	4230	6358	88436876	SO:0001583	missense	11155			AB014513	CCDS7377.1, CCDS41544.1, CCDS41545.1, CCDS53549.1, CCDS53550.1	10q22.3-q23.2	2014-09-17			ENSG00000122367	ENSG00000122367			15710	protein-coding gene	gene with protein product	"""cypher"", ""oracle"", ""Z-band alternatively spliced PDZ motif protein"""	605906	"""cardiomyopathy, dilated 1C (autosomal dominant)"""	CMD1C		10427098, 23271734, 23996002, 14662268	Standard	NM_001080114		Approved	PDLIM6, KIAA0613, ZASP	uc001kdv.3	O75112	OTTHUMG00000018655	ENST00000372066.3:c.415G>A	10.37:g.88446896G>A	ENSP00000361136:p.Glu139Lys		88436876		Missense_Mutation	SNP	HMMPfam_PDZ,superfamily_PDZ,HMMSmart_PDZ,HMMSmart_ZM,superfamily_SSF57716,HMMSmart_LIM,HMMPfam_LIM,PatternScan_LIM_DOMAIN_1	p.E139K	ENST00000372066.3	37	c.415	CCDS41545.1	10	.	.	.	.	.	.	.	.	.	.	G	36	5.607838	0.96626	.	.	ENSG00000122367	ENST00000429277;ENST00000458213;ENST00000372066;ENST00000263066;ENST00000372056	D;D;D;D;D	0.90385	-2.66;-2.66;-2.66;-2.66;-2.66	5.0	5.0	0.66597	.	.	.	.	.	D	0.91543	0.7329	N	0.25485	0.75	0.80722	D	1	D;D;D;B	0.89917	0.999;1.0;0.999;0.212	P;D;P;B	0.66497	0.771;0.944;0.885;0.026	D	0.91228	0.5012	9	0.36615	T	0.2	.	18.2879	0.90120	0.0:0.0:1.0:0.0	.	254;254;139;139	B4E3K3;O75112-4;O75112-2;O75112-6	.;.;.;.	K	254;139;139;139;254	ENSP00000401437:E254K;ENSP00000409148:E139K;ENSP00000361136:E139K;ENSP00000263066:E139K;ENSP00000361126:E254K	ENSP00000263066:E139K	E	+	1	0	LDB3	88436876	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.843000	0.99491	2.319000	0.78375	0.462000	0.41574	GAG	-	NULL		0.637	LDB3-002	KNOWN	basic|CCDS	protein_coding	LDB3	protein_coding	OTTHUMT00000049161.1	G			88436876	+1	no_errors	NM_001080114	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
FGD6	55785	genome.wustl.edu	37	12	95485582	95485582	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1698-01A-01W-0633-09	TCGA-29-1698-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13d549f0-e884-484c-9c42-0e030a751d83	7066096f-fff7-4e26-822c-93b3c5d7e795	g.chr12:95485582C>G	ENST00000343958.4	-	17	3974	c.3751G>C	c.(3751-3753)Gta>Cta	p.V1251L	FGD6_ENST00000546711.1_Missense_Mutation_p.V1251L	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	1251					actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						GCTTGGCATACAATCTGAAAA	0.328																																																0			12											90.0	82.0	85.0					12																	95485582		2203	4300	6503	94009713	SO:0001583	missense	55785			AB037783	CCDS31878.1	12q23.1	2013-01-10				ENSG00000180263		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	21740	protein-coding gene	gene with protein product		613520					Standard	NM_018351		Approved	ZFYVE24, FLJ11183	uc001tdp.4	Q6ZV73	OTTHUMG00000170133	ENST00000343958.4:c.3751G>C	12.37:g.95485582C>G	ENSP00000344446:p.Val1251Leu		94009713	Q6ZR53|Q7Z2Z7|Q96D44|Q9NUR8|Q9P2I5	Missense_Mutation	SNP	superfamily_DBL homology domain (DH-domain),HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,HMMSmart_SM00064,HMMPfam_FYVE,superfamily_FYVE/PHD zinc finger,PatternScan_C_TYPE_LECTIN_1	p.V1251L	ENST00000343958.4	37	c.3751	CCDS31878.1	12	.	.	.	.	.	.	.	.	.	.	C	19.47	3.834581	0.71373	.	.	ENSG00000180263	ENST00000343958;ENST00000546711;ENST00000551521	T;T;T	0.73469	-0.75;-0.75;-0.75	5.4	5.4	0.78164	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE-type (2);Zinc finger, FYVE-related (1);	0.000000	0.42964	D	0.000629	D	0.82398	0.5028	M	0.65498	2.005	0.43652	D	0.996064	D;D	0.64830	0.994;0.993	D;P	0.67103	0.949;0.869	T	0.83216	-0.0071	10	0.66056	D	0.02	-18.1559	10.1121	0.42568	0.0:0.8506:0.0:0.1494	.	1251;1251	Q6ZV73-2;Q6ZV73	.;FGD6_HUMAN	L	1251;1251;247	ENSP00000344446:V1251L;ENSP00000450342:V1251L;ENSP00000450240:V247L	ENSP00000344446:V1251L	V	-	1	0	FGD6	94009713	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.078000	0.50096	2.685000	0.91497	0.561000	0.74099	GTA	-	HMMSmart_SM00064,HMMPfam_FYVE,superfamily_FYVE/PHD zinc finger,PatternScan_C_TYPE_LECTIN_1		0.328	FGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGD6	protein_coding	OTTHUMT00000407600.1	C	NM_018351		94009713	-1	no_errors	NM_018351	genbank	human	validated	54_36p	missense	SNP	1.000	G
CLMN	79789	genome.wustl.edu	37	14	95669593	95669593	+	Missense_Mutation	SNP	T	T	A			TCGA-29-1698-01A-01W-0633-09	TCGA-29-1698-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13d549f0-e884-484c-9c42-0e030a751d83	7066096f-fff7-4e26-822c-93b3c5d7e795	g.chr14:95669593T>A	ENST00000298912.4	-	9	2206	c.2093A>T	c.(2092-2094)gAg>gTg	p.E698V		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	698					negative regulation of cell proliferation (GO:0008285)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		CCCAAGGGTCTCCAAGCTGAC	0.562																																																0			14											54.0	53.0	54.0					14																	95669593		2203	4300	6503	94739346	SO:0001583	missense	79789			AB033014	CCDS9933.1	14q32.13	2012-10-02			ENSG00000165959	ENSG00000165959			19972	protein-coding gene	gene with protein product		611121				11386753	Standard	NM_024734		Approved	FLJ12383, KIAA1188, KIAA0500	uc001yef.2	Q96JQ2	OTTHUMG00000171629	ENST00000298912.4:c.2093A>T	14.37:g.95669593T>A	ENSP00000298912:p.Glu698Val		94739346	B2RAR7|Q9H713|Q9HA23|Q9HA57|Q9UFP4|Q9ULN2	Missense_Mutation	SNP	superfamily_Calponin-homology domain CH-domain,HMMPfam_CH,PatternScan_ACTININ_1,HMMSmart_SM00033,PatternScan_ACTININ_2	p.E698V	ENST00000298912.4	37	c.2093	CCDS9933.1	14	.	.	.	.	.	.	.	.	.	.	T	17.86	3.493498	0.64186	.	.	ENSG00000165959	ENST00000298912	D	0.96104	-3.91	5.47	5.47	0.80525	.	0.000000	0.41938	D	0.000781	D	0.97096	0.9051	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.97655	1.0157	10	0.87932	D	0	.	13.8196	0.63311	0.0:0.0:0.0:1.0	.	698	Q96JQ2	CLMN_HUMAN	V	698	ENSP00000298912:E698V	ENSP00000298912:E698V	E	-	2	0	CLMN	94739346	1.000000	0.71417	1.000000	0.80357	0.369000	0.29798	3.283000	0.51701	2.078000	0.62432	0.528000	0.53228	GAG	-	NULL		0.562	CLMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLMN	protein_coding	OTTHUMT00000414518.2	T			94739346	-1	no_errors	NM_024734	genbank	human	validated	54_36p	missense	SNP	0.661	A
COL26A1	136227	genome.wustl.edu	37	7	101188710	101188710	+	RNA	SNP	C	C	G	rs147296294	byFrequency	TCGA-29-1698-01A-01W-0633-09	TCGA-29-1698-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13d549f0-e884-484c-9c42-0e030a751d83	7066096f-fff7-4e26-822c-93b3c5d7e795	g.chr7:101188710C>G	ENST00000397927.3	+	0	1008				COL26A1_ENST00000528707.1_RNA|COL26A1_ENST00000313669.7_RNA	NM_001278563.1	NP_001265492.1	Q96A83	COQA1_HUMAN	collagen, type XXVI, alpha 1						collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)											GCAACCCAGGCCCCTCACCAA	0.701													C|||	23	0.00459265	0.0174	0.0	5008	,	,		13430	0.0		0.0	False		,,,				2504	0.0															0			7						C		27,3665		0,27,1819	17.0	23.0	21.0		789	2.9	0.1	7	dbSNP_134	21	0,8142		0,0,4071	no	coding-synonymous	EMID2	NM_133457.2		0,27,5890	GG,GC,CC		0.0,0.7313,0.2282		263/440	101188710	27,11807	1846	4071	5917	100975430			136227			AJ416091	CCDS64739.1	7q22.1	2013-01-16	2013-01-16	2013-01-16	ENSG00000160963	ENSG00000160963		"""Collagens"", ""EMI domain containing"""	18038	protein-coding gene	gene with protein product	"""Emu2 gene"""	608927	"""EMI domain containing 2"""	EMID2		12221002, 12145293	Standard	NM_001278563		Approved	Emu2, EMI6	uc003uyo.1	Q96A83	OTTHUMG00000150033		7.37:g.101188710C>G			100975430	Q32M90	Silent	SNP	HMMPfam_EMI,HMMPfam_Collagen	p.G265	ENST00000397927.3	37	c.795		7																																																																																			-	NULL		0.701	COL26A1-002	KNOWN	basic	polymorphic_pseudogene	EMID2	polymorphic_pseudogene	OTTHUMT00000315898.2	C	NM_133457		100975430	+1	no_errors	ENST00000397927	ensembl	human	known	54_36p	silent	SNP	0.692	G
ISCU	23479	genome.wustl.edu	37	12	108959197	108959197	+	Missense_Mutation	SNP	A	A	C			TCGA-29-1698-01A-01W-0633-09	TCGA-29-1698-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13d549f0-e884-484c-9c42-0e030a751d83	7066096f-fff7-4e26-822c-93b3c5d7e795	g.chr12:108959197A>C	ENST00000311893.9	+	3	351	c.329A>C	c.(328-330)aAa>aCa	p.K110T	ISCU_ENST00000539593.1_Missense_Mutation_p.K110T|ISCU_ENST00000431221.2_Missense_Mutation_p.K110T|ISCU_ENST00000392807.4_Missense_Mutation_p.K85T|ISCU_ENST00000547005.1_Missense_Mutation_p.K110T|ISCU_ENST00000535729.1_Missense_Mutation_p.K110T|ISCU_ENST00000338291.4_Missense_Mutation_p.K85T	NM_213595.2	NP_998760.1	Q9H1K1	ISCU_HUMAN	iron-sulfur cluster assembly enzyme	110					iron-sulfur cluster assembly (GO:0016226)|nitrogen fixation (GO:0009399)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	iron ion binding (GO:0005506)|iron-sulfur cluster binding (GO:0051536)|protein complex scaffold (GO:0032947)			kidney(2)|large_intestine(2)|lung(4)|prostate(2)|urinary_tract(1)	11						GAATGGGTGAAAGGAAAGACG	0.378																																																0			12											91.0	92.0	92.0					12																	108959197		2203	4300	6503	107483326	SO:0001583	missense	23479			U47101	CCDS9118.1, CCDS44966.1, CCDS73518.1	12q24.1	2013-08-05	2013-08-05	2006-10-24	ENSG00000136003	ENSG00000136003			29882	protein-coding gene	gene with protein product		611911	"""NifU-like N-terminal domain containing"", ""IscU iron-sulfur cluster scaffold homolog (E. coli)"", ""iron-sulfur cluster scaffold homolog (E. coli)"""	NIFUN		8875867, 11060020	Standard	XM_005268760		Approved	ISU2, hnifU, IscU	uc010sxc.2	Q9H1K1	OTTHUMG00000168420	ENST00000311893.9:c.329A>C	12.37:g.108959197A>C	ENSP00000310623:p.Lys110Thr		107483326	Q6P713|Q99617|Q9H1K2	Missense_Mutation	SNP	superfamily_SSF82649,HMMPfam_NifU_N	p.K85T	ENST00000311893.9	37	c.254	CCDS44966.1	12	.	.	.	.	.	.	.	.	.	.	A	24.6	4.552469	0.86127	.	.	ENSG00000136003	ENST00000535729;ENST00000431221;ENST00000547005;ENST00000311893;ENST00000392807;ENST00000338291;ENST00000539593	T;T;T;T;T;T;T	0.78364	-1.17;-1.17;-1.17;-1.17;-1.13;-1.17;-1.17	5.53	5.53	0.82687	NIF system FeS cluster assembly, NifU, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.90089	0.6904	M	0.91872	3.25	0.80722	D	1	D;D;P;P;P;D	0.57571	0.964;0.98;0.805;0.956;0.904;0.961	D;D;D;D;P;D	0.74023	0.952;0.982;0.923;0.92;0.893;0.952	D	0.92206	0.5772	10	0.87932	D	0	.	14.6302	0.68650	1.0:0.0:0.0:0.0	.	110;110;110;110;85;85	B3KQ30;Q9H1K1;B4DNC9;F5H5N2;B1P7G3;Q9H1K1-2	.;ISCU_HUMAN;.;.;.;.	T	110;110;110;110;85;85;110	ENSP00000445598:K110T;ENSP00000411108:K110T;ENSP00000446606:K110T;ENSP00000310623:K110T;ENSP00000376554:K85T;ENSP00000344584:K85T;ENSP00000443272:K110T	ENSP00000310623:K110T	K	+	2	0	ISCU	107483326	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.522000	0.90573	2.103000	0.63969	0.533000	0.62120	AAA	-	superfamily_SSF82649,HMMPfam_NifU_N		0.378	ISCU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ISCU	protein_coding	OTTHUMT00000399693.1	A	NM_014301		107483326	+1	no_errors	NM_014301	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
RGPD4	285190	genome.wustl.edu	37	2	108478193	108478193	+	Silent	SNP	G	G	A			TCGA-29-1698-01A-01W-0633-09	TCGA-29-1698-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13d549f0-e884-484c-9c42-0e030a751d83	7066096f-fff7-4e26-822c-93b3c5d7e795	g.chr2:108478193G>A	ENST00000408999.3	+	15	2279	c.2202G>A	c.(2200-2202)aaG>aaA	p.K734K	RGPD4_ENST00000354986.4_Silent_p.K734K	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	734					protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						CAGTGGTCAAGAAAGTAAGTA	0.358																																																0			2											10.0	9.0	9.0					2																	108478193		680	1556	2236	107844625	SO:0001819	synonymous_variant	285190			BX537861	CCDS46381.1	2q12.3	2013-01-10			ENSG00000196862	ENSG00000196862		"""Tetratricopeptide (TTC) repeat domain containing"""	32417	protein-coding gene	gene with protein product		612707				15710750, 15815621	Standard	NM_182588		Approved	RGP4, DKFZp686P0288	uc010ywk.2	Q7Z3J3	OTTHUMG00000153208	ENST00000408999.3:c.2202G>A	2.37:g.108478193G>A			107844625	B9A029	Silent	SNP	superfamily_TPR-like,HMMPfam_TPR_1,HMMSmart_SM00028,superfamily_PH domain-like,HMMSmart_SM00160,HMMPfam_Ran_BP1,HMMPfam_GRIP,HMMSmart_SM00755	p.K734	ENST00000408999.3	37	c.2202	CCDS46381.1	2																																																																																			-	NULL		0.358	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	RGPD4	protein_coding	OTTHUMT00000330096.2	G	XM_496581		107844625	+1	no_errors	ENST00000354986	ensembl	human	known	54_36p	silent	SNP	0.975	A
DCX	1641	genome.wustl.edu	37	X	110653404	110653404	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1698-01A-01W-0633-09	TCGA-29-1698-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13d549f0-e884-484c-9c42-0e030a751d83	7066096f-fff7-4e26-822c-93b3c5d7e795	g.chrX:110653404C>T	ENST00000338081.3	-	2	637	c.466G>A	c.(466-468)Gac>Aac	p.D156N	DCX_ENST00000371993.2_Missense_Mutation_p.D75N|DCX_ENST00000356915.2_Missense_Mutation_p.D75N|DCX_ENST00000488120.1_Missense_Mutation_p.D75N|DCX_ENST00000356220.3_Missense_Mutation_p.D75N|DCX_ENST00000496551.1_5'UTR	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	156	Doublecortin 1. {ECO:0000255|PROSITE- ProRule:PRU00072}.				axon extension (GO:0048675)|axon guidance (GO:0007411)|brain development (GO:0007420)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neuron migration (GO:0001764)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuron projection (GO:0043005)	microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						CGAAAACGGTCAGAGGACACA	0.512																																																0			X											283.0	202.0	230.0					X																	110653404		2203	4300	6503	110540060	SO:0001583	missense	1641			AF040254	CCDS14556.1, CCDS14557.1, CCDS14558.1	Xq22.3-q23	2008-08-01	2008-08-01		ENSG00000077279	ENSG00000077279			2714	protein-coding gene	gene with protein product	"""doublecortex"""	300121	"""doublecortex; lissencephaly, X-linked (doublecortin)"""			9489699, 9489700	Standard	NM_178151		Approved	SCLH, DC, LISX, DBCN, XLIS	uc004epd.3	O43602	OTTHUMG00000022204	ENST00000338081.3:c.466G>A	X.37:g.110653404C>T	ENSP00000337697:p.Asp156Asn		110540060	A6NFY6|A9Z1V8|D3DUY8|D3DUY9|D3DUZ0|O43911|Q5JYZ5	Missense_Mutation	SNP	superfamily_Doublecortin (DC),HMMSmart_SM00537,HMMPfam_DCX	p.D156N	ENST00000338081.3	37	c.466	CCDS14556.1	X	.	.	.	.	.	.	.	.	.	.	C	33	5.216713	0.95104	.	.	ENSG00000077279	ENST00000356915;ENST00000371993;ENST00000338081;ENST00000356220;ENST00000488120;ENST00000468911	D;D;D;D;D;D	0.92149	-2.98;-2.98;-2.98;-2.98;-2.98;-2.98	5.5	5.5	0.81552	Doublecortin domain (5);	0.000000	0.85682	D	0.000000	D	0.95146	0.8427	M	0.78801	2.425	0.80722	D	1	B;B	0.27656	0.184;0.09	P;B	0.46543	0.52;0.399	D	0.93471	0.6819	10	0.41790	T	0.15	.	18.4403	0.90664	0.0:1.0:0.0:0.0	.	144;156	B4DM53;O43602	.;DCX_HUMAN	N	75;75;156;75;75;75	ENSP00000349385:D75N;ENSP00000361061:D75N;ENSP00000337697:D156N;ENSP00000348553:D75N;ENSP00000419861:D75N;ENSP00000418811:D75N	ENSP00000337697:D156N	D	-	1	0	DCX	110540060	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.651000	0.83577	2.551000	0.86045	0.600000	0.82982	GAC	-	superfamily_Doublecortin (DC),HMMSmart_SM00537,HMMPfam_DCX		0.512	DCX-006	KNOWN	basic|CCDS	protein_coding	DCX	protein_coding	OTTHUMT00000357058.1	C	NM_178153		110540060	-1	no_errors	NM_000555	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
RPSAP29	389141	genome.wustl.edu	37	3	110401274	110401274	+	IGR	SNP	A	A	G			TCGA-29-1698-01A-01W-0633-09	TCGA-29-1698-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13d549f0-e884-484c-9c42-0e030a751d83	7066096f-fff7-4e26-822c-93b3c5d7e795	g.chr3:110401274A>G								RNU6ATAC15P (130462 upstream) : Y_RNA (44593 downstream)																							GCACACCTTCAGACCAGTCTG	0.562																																																0			3																																								111883964	SO:0001628	intergenic_variant	389141																															3.37:g.110401274A>G			111883964		RNA	SNP	-	NULL		37	NULL		3																																																																																			-	-	0	0.562					LOC389141			A			111883964	-1	pseudogene	XR_016945	genbank	human	model	54_36p	rna	SNP	1.000	G
TFDP1	7027	genome.wustl.edu	37	13	114288336	114288336	+	Silent	SNP	T	T	C			TCGA-29-1698-01A-01W-0633-09	TCGA-29-1698-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13d549f0-e884-484c-9c42-0e030a751d83	7066096f-fff7-4e26-822c-93b3c5d7e795	g.chr13:114288336T>C	ENST00000375370.5	+	7	818	c.606T>C	c.(604-606)tgT>tgC	p.C202C	TFDP1_ENST00000538138.1_Silent_p.C107C|TFDP1_ENST00000544902.1_Silent_p.C107C	NM_007111.4	NP_009042.1	Q14186	TFDP1_HUMAN	transcription factor Dp-1	202					anoikis (GO:0043276)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|epidermis development (GO:0008544)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|Notch signaling pathway (GO:0007219)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA biosynthetic process (GO:2000278)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	all cancers(43;0.0576)			CTCAGGAATGTCAGAACTTAG	0.498										TSP Lung(29;0.18)																																						0			13											109.0	94.0	99.0					13																	114288336		2203	4300	6503	113336337	SO:0001819	synonymous_variant	7027			BC011685	CCDS9538.1	13q34	2008-07-18			ENSG00000198176	ENSG00000198176			11749	protein-coding gene	gene with protein product		189902				8413592, 9027491	Standard	NM_007111		Approved	Dp-1, DRTF1, DP1	uc001vtw.3	Q14186	OTTHUMG00000017388	ENST00000375370.5:c.606T>C	13.37:g.114288336T>C			113336337	B4DLQ9|Q5JSB4|Q8IZL5	Silent	SNP	HMMPfam_E2F_TDP,superfamily_SSF46785,HMMPfam_DP	p.C202	ENST00000375370.5	37	c.606	CCDS9538.1	13																																																																																			-	HMMPfam_DP		0.498	TFDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFDP1	protein_coding	OTTHUMT00000045918.3	T	NM_007111		113336337	+1	no_errors	NM_007111	genbank	human	reviewed	54_36p	silent	SNP	0.999	C
PTGS1	5742	genome.wustl.edu	37	9	125154768	125154768	+	Missense_Mutation	SNP	C	C	T	rs201836968		TCGA-29-1698-01A-01W-0633-09	TCGA-29-1698-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13d549f0-e884-484c-9c42-0e030a751d83	7066096f-fff7-4e26-822c-93b3c5d7e795	g.chr9:125154768C>T	ENST00000362012.2	+	11	1750	c.1745C>T	c.(1744-1746)cCg>cTg	p.P582L	PTGS1_ENST00000373698.5_Missense_Mutation_p.P473L|PTGS1_ENST00000223423.4_Missense_Mutation_p.P545L|PTGS1_ENST00000540753.1_Missense_Mutation_p.P520L	NM_000962.3|NM_001271164.1|NM_001271367.1|NM_080591.2	NP_000953.2|NP_001258093.1|NP_001258296.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	582					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|prostaglandin biosynthetic process (GO:0001516)|regulation of blood pressure (GO:0008217)|regulation of cell proliferation (GO:0042127)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)	dioxygenase activity (GO:0051213)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666)			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bortezomib(DB00188)|Bromfenac(DB00963)|Candesartan(DB00796)|Carprofen(DB00821)|Carvedilol(DB01136)|Chlorpropamide(DB00672)|Dapsone(DB00250)|Desmopressin(DB00035)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Diphenhydramine(DB01075)|Dronabinol(DB00470)|Eletriptan(DB00216)|Eszopiclone(DB00402)|Etodolac(DB00749)|Etoposide(DB00773)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Hexobarbital(DB01355)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Icosapent(DB00159)|Ifosfamide(DB01181)|Imatinib(DB00619)|Indomethacin(DB00328)|Irbesartan(DB01029)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Minoxidil(DB00350)|Montelukast(DB00471)|Nabumetone(DB00461)|Naproxen(DB00788)|Nateglinide(DB00731)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nortriptyline(DB00540)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Rosiglitazone(DB00412)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfamethoxazole(DB01015)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Terbinafine(DB00857)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Torasemide(DB00214)|Trabectedin(DB05109)|Triflusal(DB08814)|Trisalicylate-choline(DB01401)|Valproic Acid(DB00313)|Voriconazole(DB00582)|Zafirlukast(DB00549)|Zileuton(DB00744)|Zolpidem(DB00425)|Zopiclone(DB01198)	TTCCGTGTGCCGGATGCCAGT	0.572																																																0			9											91.0	79.0	83.0					9																	125154768		2203	4300	6503	124194589	SO:0001583	missense	5742			M59979	CCDS6842.1, CCDS6843.1, CCDS59520.1, CCDS59521.1, CCDS75895.1	9q32-q33.3	2008-02-05			ENSG00000095303	ENSG00000095303	1.14.99.1		9604	protein-coding gene	gene with protein product		176805				2512924, 1907252	Standard	NM_000962		Approved	COX1, PGHS-1, PTGHS	uc004bmg.2	P23219	OTTHUMG00000020605	ENST00000362012.2:c.1745C>T	9.37:g.125154768C>T	ENSP00000354612:p.Pro582Leu		124194589	A8K1V7|B4DHQ2|B4E2S5|Q15122|Q3HY28|Q3HY29|Q5T7T6|Q5T7T7|Q5T7T8	Missense_Mutation	SNP	superfamily_EGF/Laminin,HMMPfam_EGF,superfamily_Heme-dependent peroxidases,HMMPfam_An_peroxidase	p.P582L	ENST00000362012.2	37	c.1745	CCDS6842.1	9	.	.	.	.	.	.	.	.	.	.	C	17.41	3.382749	0.61845	.	.	ENSG00000095303	ENST00000540753;ENST00000362012;ENST00000223423;ENST00000373698	T;T;T;T	0.62364	0.03;0.7;0.17;0.55	5.56	4.65	0.58169	.	0.000000	0.85682	D	0.000000	T	0.78444	0.4284	M	0.73598	2.24	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.948;0.985	T	0.81136	-0.1070	10	0.66056	D	0.02	-19.1666	14.832	0.70156	0.1449:0.8551:0.0:0.0	.	520;582;545	B4DHQ2;P23219;P23219-2	.;PGH1_HUMAN;.	L	520;582;545;473	ENSP00000437709:P520L;ENSP00000354612:P582L;ENSP00000223423:P545L;ENSP00000362802:P473L	ENSP00000223423:P545L	P	+	2	0	PTGS1	124194589	1.000000	0.71417	0.566000	0.28421	0.139000	0.21198	7.516000	0.81772	1.328000	0.45358	0.655000	0.94253	CCG	-	superfamily_Heme-dependent peroxidases		0.572	PTGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGS1	protein_coding	OTTHUMT00000053933.1	C			124194589	+1	no_errors	NM_000962	genbank	human	reviewed	54_36p	missense	SNP	0.992	T
OR1L4	254973	genome.wustl.edu	37	9	125486474	125486474	+	Missense_Mutation	SNP	T	T	C			TCGA-29-1698-01A-01W-0633-09	TCGA-29-1698-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13d549f0-e884-484c-9c42-0e030a751d83	7066096f-fff7-4e26-822c-93b3c5d7e795	g.chr9:125486474T>C	ENST00000259466.1	+	1	206	c.206T>C	c.(205-207)tTc>tCc	p.F69S		NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN	olfactory receptor, family 1, subfamily L, member 4	69						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						AACTTGTCTTTCATGGATATC	0.463																																																0			9											114.0	111.0	112.0					9																	125486474		2203	4297	6500	124526295	SO:0001583	missense	254973				CCDS35129.1	9q33.2	2013-09-20			ENSG00000136939	ENSG00000136939		"""GPCR / Class A : Olfactory receptors"""	8216	protein-coding gene	gene with protein product				OR1L5			Standard	NM_001005235		Approved	OR9-E	uc004bmu.1	Q8NGR5	OTTHUMG00000020620	ENST00000259466.1:c.206T>C	9.37:g.125486474T>C	ENSP00000259466:p.Phe69Ser		124526295	Q6IFN0|Q96R81	Missense_Mutation	SNP	PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321,HMMPfam_7tm_1	p.F69S	ENST00000259466.1	37	c.206	CCDS35129.1	9	.	.	.	.	.	.	.	.	.	.	.	14.04	2.415717	0.42817	.	.	ENSG00000136939	ENST00000259466	T	0.01005	5.45	3.9	3.9	0.45041	GPCR, rhodopsin-like superfamily (1);	0.116852	0.38959	N	0.001507	T	0.02083	0.0065	M	0.86097	2.795	0.38448	D	0.946878	P	0.42078	0.77	B	0.37550	0.253	T	0.48768	-0.9006	10	0.66056	D	0.02	-39.5612	11.9024	0.52690	0.0:0.0:0.0:1.0	.	69	Q8NGR5	OR1L4_HUMAN	S	69	ENSP00000259466:F69S	ENSP00000259466:F69S	F	+	2	0	OR1L4	124526295	0.817000	0.29147	1.000000	0.80357	0.890000	0.51754	4.746000	0.62133	1.642000	0.50584	0.248000	0.18094	TTC	-	superfamily_SSF81321,HMMPfam_7tm_1		0.463	OR1L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1L4	protein_coding	OTTHUMT00000053951.1	T			124526295	+1	no_errors	NM_001005235	genbank	human	provisional	54_36p	missense	SNP	0.250	C
SAP130	79595	genome.wustl.edu	37	2	128699592	128699592	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1698-01A-01W-0633-09	TCGA-29-1698-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13d549f0-e884-484c-9c42-0e030a751d83	7066096f-fff7-4e26-822c-93b3c5d7e795	g.chr2:128699592C>G	ENST00000259235.3	-	20	3264	c.3135G>C	c.(3133-3135)aaG>aaC	p.K1045N	SAP130_ENST00000259234.6_Missense_Mutation_p.K1053N|SAP130_ENST00000357702.5_Missense_Mutation_p.K1080N	NM_024545.3	NP_078821.2	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	1045	Interactions with SIN3A and HDAC1.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		AGACTTTTTCCTTTCGCTTCA	0.433																																																0			2											157.0	147.0	151.0					2																	128699592		2203	4300	6503	128416062	SO:0001583	missense	79595			BC017453	CCDS2153.1, CCDS54397.1	2q14.3	2008-02-05	2006-02-02		ENSG00000136715	ENSG00000136715			29813	protein-coding gene	gene with protein product		609697	"""sin3A-associated protein, 130kDa"""			11230166, 12724404	Standard	NM_001145928		Approved	FLJ12761	uc010fmd.2	Q9H0E3	OTTHUMG00000131571	ENST00000259235.3:c.3135G>C	2.37:g.128699592C>G	ENSP00000259235:p.Lys1045Asn		128416062	B7ZLM3|C9K0X9|Q4ZFV4|Q53T46|Q8WVW4|Q9H9G8	Missense_Mutation	SNP	NULL	p.K1045N	ENST00000259235.3	37	c.3135	CCDS2153.1	2	.	.	.	.	.	.	.	.	.	.	.	8.899	0.955899	0.18507	.	.	ENSG00000136715	ENST00000357702;ENST00000259235;ENST00000259234	.	.	.	6.17	2.48	0.30137	.	0.043371	0.85682	D	0.000000	T	0.47673	0.1458	N	0.24115	0.695	0.58432	D	0.999999	D;D;D;D	0.56746	0.977;0.977;0.977;0.977	P;P;P;P	0.53593	0.647;0.73;0.73;0.73	T	0.45011	-0.9290	9	0.72032	D	0.01	-20.3777	9.9654	0.41721	0.0:0.6791:0.0:0.3209	.	1080;1045;610;682	B7ZLM3;Q9H0E3;Q9H0E3-2;B3KRT9	.;SP130_HUMAN;.;.	N	1080;1045;1053	.	ENSP00000259234:K1053N	K	-	3	2	SAP130	128416062	1.000000	0.71417	0.998000	0.56505	0.014000	0.08584	0.853000	0.27777	0.196000	0.20367	-0.140000	0.14226	AAG	-	NULL		0.433	SAP130-001	KNOWN	basic|CCDS	protein_coding	SAP130	protein_coding	OTTHUMT00000254436.3	C	NM_024545		128416062	-1	no_errors	NM_024545	genbank	human	validated	54_36p	missense	SNP	0.992	G
ZNF79	7633	genome.wustl.edu	37	9	130206590	130206590	+	Missense_Mutation	SNP	A	A	G			TCGA-29-1698-01A-01W-0633-09	TCGA-29-1698-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13d549f0-e884-484c-9c42-0e030a751d83	7066096f-fff7-4e26-822c-93b3c5d7e795	g.chr9:130206590A>G	ENST00000342483.5	+	5	1017	c.611A>G	c.(610-612)tAc>tGc	p.Y204C	ZNF79_ENST00000543471.1_Missense_Mutation_p.Y180C	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN	zinc finger protein 79	204					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						GCCTTCAGTTACTGTTCTTCC	0.468																																																0			9											104.0	99.0	101.0					9																	130206590		2203	4300	6503	129246411	SO:0001583	missense	7633			X65232	CCDS6871.1, CCDS69664.1, CCDS75904.1	9q34	2013-01-08	2006-05-12		ENSG00000196152	ENSG00000196152		"""Zinc fingers, C2H2-type"""	13153	protein-coding gene	gene with protein product		194552	"""zinc finger protein 79 (pT7)"""			8478004	Standard	NM_007135		Approved	pT7	uc004bqw.4	Q15937	OTTHUMG00000020703	ENST00000342483.5:c.611A>G	9.37:g.130206590A>G	ENSP00000362446:p.Tyr204Cys		129246411	Q5VVW1|Q96NV1	Missense_Mutation	SNP	superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1	p.Y204C	ENST00000342483.5	37	c.611	CCDS6871.1	9	.	.	.	.	.	.	.	.	.	.	A	14.97	2.694110	0.48202	.	.	ENSG00000196152	ENST00000342483;ENST00000543471	T;T	0.08546	3.08;3.08	4.01	4.01	0.46588	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13329	0.0323	L	0.33710	1.025	0.30280	N	0.791418	D	0.63880	0.993	P	0.55965	0.788	T	0.03166	-1.1065	9	0.38643	T	0.18	.	10.9424	0.47281	1.0:0.0:0.0:0.0	.	204	Q15937	ZNF79_HUMAN	C	204;180	ENSP00000362446:Y204C;ENSP00000438418:Y180C	ENSP00000362446:Y204C	Y	+	2	0	ZNF79	129246411	0.002000	0.14202	1.000000	0.80357	0.993000	0.82548	1.838000	0.39211	1.691000	0.51100	0.533000	0.62120	TAC	-	superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1		0.468	ZNF79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF79	protein_coding	OTTHUMT00000054188.1	A	NM_007135		129246411	+1	no_errors	NM_007135	genbank	human	validated	54_36p	missense	SNP	0.008	G
C9orf114	51490	genome.wustl.edu	37	9	131589440	131589440	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1698-01A-01W-0633-09	TCGA-29-1698-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13d549f0-e884-484c-9c42-0e030a751d83	7066096f-fff7-4e26-822c-93b3c5d7e795	g.chr9:131589440G>A	ENST00000361256.5	-	4	279	c.239C>T	c.(238-240)cCg>cTg	p.P80L		NM_016390.3	NP_057474.2	Q5T280	CI114_HUMAN	chromosome 9 open reading frame 114	80							poly(A) RNA binding (GO:0044822)			kidney(2)|large_intestine(4)|ovary(1)	7						GATGGAGCCCGGCAGGGCTAC	0.617																																																0			9											57.0	53.0	54.0					9																	131589440		2203	4300	6503	130629261	SO:0001583	missense	51490				CCDS6913.1	9q34.11	2014-05-29			ENSG00000198917	ENSG00000198917			26933	protein-coding gene	gene with protein product	"""centromere protein 32"""					20813266	Standard	NM_016390		Approved	HSPC109, CENP-32	uc004bwd.3	Q5T280	OTTHUMG00000020762	ENST00000361256.5:c.239C>T	9.37:g.131589440G>A	ENSP00000354812:p.Pro80Leu		130629261	Q0D2P6|Q6P469|Q6PGP9|Q6PIJ1|Q6PJV9	Missense_Mutation	SNP	superfamily_SSF75217,HMMPfam_DUF171,superfamily_Nucleic_acid_OB	p.P80L	ENST00000361256.5	37	c.239	CCDS6913.1	9	.	.	.	.	.	.	.	.	.	.	G	34	5.311090	0.95629	.	.	ENSG00000198917	ENST00000361256;ENST00000372618	T	0.64260	-0.09	5.37	5.37	0.77165	.	0.051410	0.85682	N	0.000000	D	0.86218	0.5880	H	0.96015	3.755	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.90568	0.4520	10	0.87932	D	0	-9.957	18.1483	0.89665	0.0:0.0:1.0:0.0	.	80;80	E7ESY7;Q5T280	.;CI114_HUMAN	L	80	ENSP00000354812:P80L	ENSP00000354812:P80L	P	-	2	0	C9orf114	130629261	1.000000	0.71417	0.978000	0.43139	0.919000	0.55068	9.716000	0.98752	2.532000	0.85374	0.555000	0.69702	CCG	-	superfamily_SSF75217,HMMPfam_DUF171		0.617	C9orf114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf114	protein_coding	OTTHUMT00000054500.1	G	NM_016390		130629261	-1	no_errors	NM_016390	genbank	human	validated	54_36p	missense	SNP	0.999	A
PRSS58	136541	genome.wustl.edu	37	7	141952090	141952090	+	Missense_Mutation	SNP	T	T	A			TCGA-29-1698-01A-01W-0633-09	TCGA-29-1698-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13d549f0-e884-484c-9c42-0e030a751d83	7066096f-fff7-4e26-822c-93b3c5d7e795	g.chr7:141952090T>A	ENST00000552471.1	-	5	996	c.677A>T	c.(676-678)aAa>aTa	p.K226I	PRSS58_ENST00000547058.2_Missense_Mutation_p.K226I			Q8IYP2	PRS58_HUMAN	protease, serine, 58	226	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						GTAAAAAATTTTGGCATAGAT	0.443																																																0			7											60.0	67.0	65.0					7																	141952090		2203	4300	6503	141598568	SO:0001583	missense	0				CCDS5871.1	7q34	2012-10-03			ENSG00000258223	ENSG00000258223	3.4.21.4	"""Serine peptidases / Serine peptidases"""	39125	protein-coding gene	gene with protein product	"""trypsin X3"""						Standard	NM_001001317		Approved	TRYX3	uc003vxc.4	Q8IYP2	OTTHUMG00000158565	ENST00000552471.1:c.677A>T	7.37:g.141952090T>A	ENSP00000446916:p.Lys226Ile		141598568	B3KVJ6|D3DXD2	Missense_Mutation	SNP	PatternScan_TRYPSIN_SER,superfamily_Pept_Ser_Cys,HMMSmart_Tryp_SPc,HMMPfam_Trypsin,PatternScan_TRYPSIN_HIS	p.K226I	ENST00000552471.1	37	c.677	CCDS5871.1	7	.	.	.	.	.	.	.	.	.	.	T	17.68	3.449718	0.63290	.	.	ENSG00000258223	ENST00000547058;ENST00000552471	D;D	0.82803	-1.65;-1.65	5.24	-4.03	0.04021	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.90246	0.6950	M	0.92169	3.28	0.09310	N	0.999999	D	0.55800	0.973	P	0.57776	0.827	D	0.85691	0.1307	9	0.87932	D	0	.	12.8327	0.57754	0.0:0.7153:0.0:0.2847	.	226	Q8IYP2	PRS58_HUMAN	I	226	ENSP00000447588:K226I;ENSP00000446916:K226I	ENSP00000307206:K226I	K	-	2	0	PRSS58	141598568	0.456000	0.25744	0.003000	0.11579	0.680000	0.39746	0.000000	0.12993	-0.687000	0.05162	0.533000	0.62120	AAA	-	superfamily_Pept_Ser_Cys,HMMSmart_Tryp_SPc,HMMPfam_Trypsin		0.443	PRSS58-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	uc003vxc.2	protein_coding	OTTHUMT00000351328.2	T	NM_001001317		141598568	-1	no_errors	ENST00000304182	ensembl	human	known	54_36p	missense	SNP	0.536	A
GK5	256356	genome.wustl.edu	37	3	141917755	141917755	+	Silent	SNP	T	T	C			TCGA-29-1698-01A-01W-0633-09	TCGA-29-1698-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13d549f0-e884-484c-9c42-0e030a751d83	7066096f-fff7-4e26-822c-93b3c5d7e795	g.chr3:141917755T>C	ENST00000392993.2	-	5	583	c.432A>G	c.(430-432)cgA>cgG	p.R144R	GK5_ENST00000544571.1_Silent_p.R144R	NM_001039547.2	NP_001034636.1	Q6ZS86	GLPK5_HUMAN	glycerol kinase 5 (putative)	144					glycerol catabolic process (GO:0019563)		ATP binding (GO:0005524)|glycerol kinase activity (GO:0004370)			kidney(1)|large_intestine(1)|lung(7)|urinary_tract(1)	10						AGTGAAGCACTCGGCAAGAAC	0.318																																																0			3											61.0	59.0	60.0					3																	141917755		2203	4300	6503	143400445	SO:0001819	synonymous_variant	256356			BX648681	CCDS33871.1	3q23	2014-02-12	2006-09-21		ENSG00000175066	ENSG00000175066		"""Glycerol kinases"""	28635	protein-coding gene	gene with protein product						12477932	Standard	NM_001039547		Approved	MGC40579	uc003euq.2	Q6ZS86	OTTHUMG00000133572	ENST00000392993.2:c.432A>G	3.37:g.141917755T>C			143400445	B2R9I2|D3DNG2|Q8N2A7|Q8N5E6	Silent	SNP	superfamily_Actin-like ATPase domain,HMMPfam_FGGY_N,HMMPfam_FGGY_C,PatternScan_FGGY_KINASES_2	p.R144	ENST00000392993.2	37	c.432	CCDS33871.1	3																																																																																			-	superfamily_Actin-like ATPase domain,HMMPfam_FGGY_N		0.318	GK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GK5	protein_coding	OTTHUMT00000353999.1	T	NM_001039547		143400445	-1	no_errors	NM_001039547	genbank	human	validated	54_36p	silent	SNP	0.033	C
CP	1356	genome.wustl.edu	37	3	148927000	148927000	+	Missense_Mutation	SNP	T	T	C			TCGA-29-1698-01A-01W-0633-09	TCGA-29-1698-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13d549f0-e884-484c-9c42-0e030a751d83	7066096f-fff7-4e26-822c-93b3c5d7e795	g.chr3:148927000T>C	ENST00000264613.6	-	4	1041	c.779A>G	c.(778-780)tAt>tGt	p.Y260C		NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	260	F5/8 type A 1.|Plastocyanin-like 2.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|transmembrane transport (GO:0055085)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)	chaperone binding (GO:0051087)|copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	AATCTTACAATACATTCTGTT	0.358																																																0			3											227.0	212.0	217.0					3																	148927000		2202	4300	6502	150409690	SO:0001583	missense	1356			M13536	CCDS3141.1	3q23-q25	2010-07-01			ENSG00000047457	ENSG00000047457	1.16.3.1		2295	protein-coding gene	gene with protein product		117700					Standard	NM_000096		Approved		uc003ewy.4	P00450	OTTHUMG00000159563	ENST00000264613.6:c.779A>G	3.37:g.148927000T>C	ENSP00000264613:p.Tyr260Cys		150409690	Q14063|Q2PP18|Q9UKS4	Missense_Mutation	SNP	superfamily_Cupredoxins,HMMPfam_Cu-oxidase_3,HMMPfam_Cu-oxidase,PatternScan_MULTICOPPER_OXIDASE1,HMMPfam_Cu-oxidase_2,PatternScan_MULTICOPPER_OXIDASE2	p.Y260C	ENST00000264613.6	37	c.779	CCDS3141.1	3	.	.	.	.	.	.	.	.	.	.	T	20.0	3.931282	0.73327	.	.	ENSG00000047457	ENST00000264613;ENST00000494544	D;D	0.82984	-1.67;-1.67	5.5	5.5	0.81552	Cupredoxin (2);Multicopper oxidase, type 1 (1);	0.233268	0.42821	D	0.000643	D	0.90253	0.6952	M	0.69523	2.12	0.43377	D	0.995476	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77004	0.989;0.989;0.989	D	0.91301	0.5067	10	0.72032	D	0.01	-26.795	15.6001	0.76616	0.0:0.0:0.0:1.0	.	260;260;260	A8K5A4;P00450;Q1L857	.;CERU_HUMAN;.	C	260;43	ENSP00000264613:Y260C;ENSP00000420545:Y43C	ENSP00000264613:Y260C	Y	-	2	0	CP	150409690	1.000000	0.71417	0.998000	0.56505	0.774000	0.43823	7.646000	0.83445	2.064000	0.61679	0.528000	0.53228	TAT	-	superfamily_Cupredoxins,HMMPfam_Cu-oxidase		0.358	CP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CP	protein_coding	OTTHUMT00000317498.1	T	NM_000096		150409690	-1	no_errors	NM_000096	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
PNCK	139728	genome.wustl.edu	37	X	152938235	152938235	+	Intron	SNP	G	G	A	rs114110700		TCGA-29-1698-01A-01W-0633-09	TCGA-29-1698-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13d549f0-e884-484c-9c42-0e030a751d83	7066096f-fff7-4e26-822c-93b3c5d7e795	g.chrX:152938235G>A	ENST00000370150.1	-	3	247				PNCK_ENST00000370145.4_Intron|PNCK_ENST00000447676.2_Intron|PNCK_ENST00000370142.1_Intron|PNCK_ENST00000393831.2_Intron|PNCK_ENST00000475172.1_Intron|PNCK_ENST00000340888.3_Intron			Q6P2M8	KCC1B_HUMAN	pregnancy up-regulated nonubiquitous CaM kinase							cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)	p.P25S(1)		breast(2)|lung(3)|skin(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					agcggggagggCCCCCTGTGA	0.652													g|||	120	0.0317881	0.0862	0.0086	3775	,	,		11042	0.0		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	breast(1)	X																																								152591429	SO:0001627	intron_variant	139728			BC033746	CCDS35503.2, CCDS48189.1	Xq28	2013-10-14	2013-10-14		ENSG00000130822	ENSG00000130822			13415	protein-coding gene	gene with protein product		300680	"""pregnancy upregulated non-ubiquitously expressed CaM kinase"", ""pregnancy up-regulated non-ubiquitously expressed CaM kinase"""			12477932	Standard	NM_001039582		Approved	MGC45419, CaMK1b	uc011myu.2	Q6P2M8	OTTHUMG00000024216	ENST00000370150.1:c.69-83C>T	X.37:g.152938235G>A			152591429	B4DJR8|B4E1A6|B7WPG0|D3DWU7|Q8N4R0	Missense_Mutation	SNP	superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST	p.P25S	ENST00000370150.1	37	c.73		X																																																																																			-	superfamily_Protein kinase-like (PK-like)		0.652	PNCK-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal	protein_coding	PNCK	protein_coding	OTTHUMT00000061044.2	G	NM_198452		152591429	-1	no_errors	ENST00000393831	ensembl	human	known	54_36p	missense	SNP	0.004	A
RPL22L1	200916	genome.wustl.edu	37	3	170587950	170587950	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1698-01A-01W-0633-09	TCGA-29-1698-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13d549f0-e884-484c-9c42-0e030a751d83	7066096f-fff7-4e26-822c-93b3c5d7e795	g.chr3:170587950G>A	ENST00000295830.8	-	1	322	c.7C>T	c.(7-9)Ccg>Tcg	p.P3S	RPL22L1_ENST00000463836.1_Missense_Mutation_p.P3S	NM_001099645.1	NP_001093115.1	Q6P5R6	RL22L_HUMAN	ribosomal protein L22-like 1	3					translation (GO:0006412)	ribosome (GO:0005840)	structural constituent of ribosome (GO:0003735)			kidney(2)|large_intestine(1)|upper_aerodigestive_tract(1)	4	all_cancers(22;1.96e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.137)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)			TCACTCACCGGCGCCATCTTG	0.552																																																0			3											69.0	75.0	73.0					3																	170587950		2072	4206	6278	172070644	SO:0001583	missense	200916			BC062731	CCDS46955.1	3q26.2	2005-08-09			ENSG00000163584	ENSG00000163584			27610	protein-coding gene	gene with protein product							Standard	NM_001099645		Approved		uc003fhc.4	Q6P5R6	OTTHUMG00000158957	ENST00000295830.8:c.7C>T	3.37:g.170587950G>A	ENSP00000346080:p.Pro3Ser		172070644	Q32Q77	Missense_Mutation	SNP	HMMPfam_Ribosomal_L22e	p.P3S	ENST00000295830.8	37	c.7	CCDS46955.1	3	.	.	.	.	.	.	.	.	.	.	G	15.90	2.970216	0.53614	.	.	ENSG00000163584	ENST00000295830;ENST00000463836	T;T	0.45276	0.9;0.97	4.4	3.52	0.40303	.	.	.	.	.	T	0.59321	0.2185	M	0.68593	2.085	0.22811	N	0.998706	D	0.65815	0.995	D	0.63957	0.92	T	0.50558	-0.8814	9	0.72032	D	0.01	.	12.4101	0.55461	0.0:0.1698:0.8302:0.0	.	3	Q6P5R6	RL22L_HUMAN	S	3	ENSP00000346080:P3S;ENSP00000419041:P3S	ENSP00000346080:P3S	P	-	1	0	RPL22L1	172070644	1.000000	0.71417	1.000000	0.80357	0.077000	0.17291	2.888000	0.48594	1.451000	0.47736	0.313000	0.20887	CCG	-	NULL		0.552	RPL22L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RPL22L1	protein_coding	OTTHUMT00000352586.2	G	XM_114317		172070644	-1	no_errors	NM_001099645	genbank	human	validated	54_36p	missense	SNP	1.000	A
Unknown	0	genome.wustl.edu	37	3	179957040	179957040	+	IGR	SNP	A	A	C			TCGA-29-1698-01A-01W-0633-09	TCGA-29-1698-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13d549f0-e884-484c-9c42-0e030a751d83	7066096f-fff7-4e26-822c-93b3c5d7e795	g.chr3:179957040A>C								RNA5SP149 (77275 upstream) : RP11-420J11.2 (174921 downstream)																							CACTAAGCCCAGGGGAAGGAT	0.463																																																0			3																																								181439734	SO:0001628	intergenic_variant	131054																															3.37:g.179957040A>C			181439734		RNA	SNP	-	NULL		37	NULL		3																																																																																			-	-	0	0.463					LOC131054			A			181439734	+1	pseudogene	XR_017452	genbank	human	model	54_36p	rna	SNP	0.001	C
USH2A	7399	genome.wustl.edu	37	1	215802329	215802329	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1698-01A-01W-0633-09	TCGA-29-1698-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13d549f0-e884-484c-9c42-0e030a751d83	7066096f-fff7-4e26-822c-93b3c5d7e795	g.chr1:215802329G>A	ENST00000307340.3	-	71	15732	c.15346C>T	c.(15346-15348)Cgc>Tgc	p.R5116C	SNORD116_ENST00000365628.1_RNA|USH2A_ENST00000366943.2_Missense_Mutation_p.R5140C	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	5116					hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CGGTTGCTGCGGATACTCACA	0.517										HNSCC(13;0.011)																																						0			1											121.0	121.0	121.0					1																	215802329		2203	4300	6503	213868952	SO:0001583	missense	7399			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.15346C>T	1.37:g.215802329G>A	ENSP00000305941:p.Arg5116Cys		213868952	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00560,HMMSmart_SM00136,HMMPfam_Laminin_N,HMMPfam_Laminin_EGF,HMMSmart_SM00180,superfamily_EGF/Laminin,PatternScan_EGF_LAM_1,PatternScan_EGF_1,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3,HMMSmart_SM00282,HMMPfam_Laminin_G_2	p.R5116C	ENST00000307340.3	37	c.15346	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	G	15.89	2.965732	0.53507	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.16073	2.37;2.49	5.67	3.66	0.41972	.	0.185589	0.25680	U	0.029004	T	0.26011	0.0634	M	0.65975	2.015	0.40915	D	0.984266	D	0.76494	0.999	P	0.50490	0.642	T	0.02713	-1.1120	10	0.66056	D	0.02	.	9.1765	0.37116	0.0:0.1169:0.5101:0.373	.	5116	O75445	USH2A_HUMAN	C	5116;5140	ENSP00000305941:R5116C;ENSP00000355910:R5140C	ENSP00000305941:R5116C	R	-	1	0	USH2A	213868952	0.397000	0.25270	0.841000	0.33234	0.087000	0.18053	2.397000	0.44477	0.601000	0.29879	0.591000	0.81541	CGC	-	NULL		0.517	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	protein_coding	OTTHUMT00000128138.1	G	NM_007123		213868952	-1	no_errors	NM_206933	genbank	human	reviewed	54_36p	missense	SNP	0.710	A
CCDC108	255101	genome.wustl.edu	37	2	219900273	219900273	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1698-01A-01W-0633-09	TCGA-29-1698-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13d549f0-e884-484c-9c42-0e030a751d83	7066096f-fff7-4e26-822c-93b3c5d7e795	g.chr2:219900273C>A	ENST00000341552.5	-	5	554	c.471G>T	c.(469-471)gaG>gaT	p.E157D	CCDC108_ENST00000409865.3_Missense_Mutation_p.E146D|CCDC108_ENST00000295729.2_Missense_Mutation_p.E92D|CCDC108_ENST00000453220.1_Missense_Mutation_p.E157D|CCDC108_ENST00000410037.1_Missense_Mutation_p.E92D|CCDC108_ENST00000324264.6_Missense_Mutation_p.E92D|CCDC108_ENST00000441968.1_Missense_Mutation_p.E157D	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	157						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCTTTCCTAGCTCCCAGCCTT	0.498																																																0			2											181.0	169.0	173.0					2																	219900273		2203	4300	6503	219608517	SO:0001583	missense	255101			NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.471G>T	2.37:g.219900273C>A	ENSP00000340776:p.Glu157Asp		219608517	A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Missense_Mutation	SNP	PatternScan_MGMT,superfamily_PapD-like	p.E157D	ENST00000341552.5	37	c.471	CCDS2430.2	2	.	.	.	.	.	.	.	.	.	.	C	13.52	2.261839	0.39995	.	.	ENSG00000181378	ENST00000341552;ENST00000441968;ENST00000453220;ENST00000409865;ENST00000410037;ENST00000441164;ENST00000457968;ENST00000436631;ENST00000295729;ENST00000324264;ENST00000458526	T;T;T;T;T;T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47;1.47;1.47;1.47;1.47;1.47	5.39	-3.94	0.04130	.	1.110420	0.06981	N	0.819916	T	0.40932	0.1137	M	0.71036	2.16	0.18873	N	0.999988	D;B;D	0.54964	0.969;0.003;0.969	P;B;P	0.54629	0.757;0.01;0.757	T	0.46498	-0.9187	10	0.66056	D	0.02	-1.7774	5.6582	0.17654	0.2639:0.3418:0.0:0.3943	.	146;92;157	E9PG25;E9PCR1;Q6ZU64	.;.;CC108_HUMAN	D	157;157;157;146;92;91;146;92;92;92;92	ENSP00000340776:E157D;ENSP00000413377:E157D;ENSP00000409117:E157D;ENSP00000386945:E146D;ENSP00000386258:E92D;ENSP00000393483:E146D;ENSP00000396836:E92D;ENSP00000295729:E92D;ENSP00000313807:E92D;ENSP00000413746:E92D	ENSP00000295729:E92D	E	-	3	2	CCDC108	219608517	0.009000	0.17119	0.035000	0.18076	0.854000	0.48673	-1.221000	0.02968	-0.601000	0.05783	0.561000	0.74099	GAG	-	NULL		0.498	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC108	protein_coding	OTTHUMT00000256598.4	C	NM_194302		219608517	-1	no_errors	NM_194302	genbank	human	provisional	54_36p	missense	SNP	0.440	A
PSEN2	5664	genome.wustl.edu	37	1	227076726	227076726	+	Missense_Mutation	SNP	A	A	T	rs201292728		TCGA-29-1698-01A-01W-0633-09	TCGA-29-1698-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13d549f0-e884-484c-9c42-0e030a751d83	7066096f-fff7-4e26-822c-93b3c5d7e795	g.chr1:227076726A>T	ENST00000366783.3	+	8	1199	c.763A>T	c.(763-765)Atc>Ttc	p.I255F	PSEN2_ENST00000472139.2_Missense_Mutation_p.I111F|PSEN2_ENST00000340188.4_Missense_Mutation_p.I255F|PSEN2_ENST00000391872.2_Missense_Mutation_p.I288F|PSEN2_ENST00000422240.2_Missense_Mutation_p.I255F|PSEN2_ENST00000366782.1_Missense_Mutation_p.I288F	NM_000447.2|NM_012486.2	NP_000438.2|NP_036618.2	P49810	PSN2_HUMAN	presenilin 2	255					amyloid precursor protein catabolic process (GO:0042987)|anagen (GO:0042640)|apoptotic signaling pathway (GO:0097190)|beta-amyloid metabolic process (GO:0050435)|brain morphogenesis (GO:0048854)|calcium ion transport (GO:0006816)|cardiac muscle contraction (GO:0060048)|cell fate specification (GO:0001708)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic limb morphogenesis (GO:0030326)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|forebrain development (GO:0030900)|hematopoietic progenitor cell differentiation (GO:0002244)|intracellular signal transduction (GO:0035556)|locomotion (GO:0040011)|lung alveolus development (GO:0048286)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|memory (GO:0007613)|myeloid leukocyte differentiation (GO:0002573)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of protein binding (GO:0032091)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of protein phosphorylation (GO:0001933)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|positive regulation of coagulation (GO:0050820)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|protein processing (GO:0016485)|protein transport (GO:0015031)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of synaptic plasticity (GO:0048167)|response to hypoxia (GO:0001666)|somitogenesis (GO:0001756)|T cell activation involved in immune response (GO:0002286)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cell cortex (GO:0005938)|cell surface (GO:0009986)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|ciliary rootlet (GO:0035253)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|kinetochore (GO:0000776)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nuclear inner membrane (GO:0005637)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Z disc (GO:0030018)	aspartic-type endopeptidase activity (GO:0004190)|endopeptidase activity (GO:0004175)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|urinary_tract(1)	20		Prostate(94;0.0771)				CGCGTGGGTCATCCTGGGCGC	0.617																																																0			1											102.0	79.0	87.0					1																	227076726		2203	4300	6503	225143349	SO:0001583	missense	5664			BC006365	CCDS1556.1, CCDS44324.1	1q42.13	2014-09-17	2014-02-24		ENSG00000143801	ENSG00000143801			9509	protein-coding gene	gene with protein product		600759	"""Alzheimer disease 4"""	AD4		7638621	Standard	NM_000447		Approved	AD3L, STM2, PS2	uc009xeo.1	P49810	OTTHUMG00000037563	ENST00000366783.3:c.763A>T	1.37:g.227076726A>T	ENSP00000355747:p.Ile255Phe		225143349	A8K8D4|B1AP21|Q96P32	Missense_Mutation	SNP	HMMPfam_Presenilin,HMMSmart_SM00730	p.I255F	ENST00000366783.3	37	c.763	CCDS1556.1	1	.	.	.	.	.	.	.	.	.	.	A	25.8	4.676209	0.88445	.	.	ENSG00000143801	ENST00000366783;ENST00000340188;ENST00000422240;ENST00000460775;ENST00000366782;ENST00000391872;ENST00000472139	D;D;D;D;D;D;D	0.99660	-6.32;-6.32;-6.32;-6.32;-6.32;-6.32;-6.32	4.92	4.92	0.64577	.	0.094982	0.64402	D	0.000001	D	0.99554	0.9840	M	0.80028	2.48	0.80722	D	1	P;D	0.71674	0.786;0.998	P;D	0.76575	0.688;0.988	D	0.98063	1.0394	10	0.87932	D	0	.	14.8571	0.70347	1.0:0.0:0.0:0.0	.	255;255	A8K8D4;P49810	.;PSN2_HUMAN	F	255;255;255;82;288;288;111	ENSP00000355747:I255F;ENSP00000339860:I255F;ENSP00000403737:I255F;ENSP00000427912:I82F;ENSP00000355746:I288F;ENSP00000375745:I288F;ENSP00000427806:I111F	ENSP00000339860:I255F	I	+	1	0	PSEN2	225143349	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	9.213000	0.95133	1.965000	0.57142	0.459000	0.35465	ATC	-	HMMPfam_Presenilin,HMMSmart_SM00730		0.617	PSEN2-001	KNOWN	basic|CCDS	protein_coding	PSEN2	protein_coding	OTTHUMT00000091539.1	A	NM_000447		225143349	+1	no_errors	NM_000447	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
RGS7	6000	genome.wustl.edu	37	1	240977005	240977005	+	Missense_Mutation	SNP	T	T	G			TCGA-29-1698-01A-01W-0633-09	TCGA-29-1698-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13d549f0-e884-484c-9c42-0e030a751d83	7066096f-fff7-4e26-822c-93b3c5d7e795	g.chr1:240977005T>G	ENST00000407727.1	-	12	868	c.869A>C	c.(868-870)tAt>tCt	p.Y290S	RGS7_ENST00000366565.1_Missense_Mutation_p.Y290S|RGS7_ENST00000348120.2_Missense_Mutation_p.Y237S|RGS7_ENST00000366562.4_Missense_Mutation_p.Y290S|RGS7_ENST00000401882.1_Missense_Mutation_p.Y237S|RGS7_ENST00000366563.1_Missense_Mutation_p.Y290S|RGS7_ENST00000331110.7_Missense_Mutation_p.Y264S|RGS7_ENST00000366564.1_Missense_Mutation_p.Y290S|RGS7_ENST00000446183.2_Missense_Mutation_p.Y206S			P49802	RGS7_HUMAN	regulator of G-protein signaling 7	290	G protein gamma.				G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite terminus (GO:0044292)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			GTATTCTAAATACTGTTCCGT	0.443																																																0			1											108.0	103.0	105.0					1																	240977005		2203	4300	6503	239043628	SO:0001583	missense	6000			BC022009	CCDS31071.1, CCDS60457.1, CCDS60458.1, CCDS60459.1	1q43	2008-02-05	2007-08-14		ENSG00000182901	ENSG00000182901		"""Regulators of G-protein signaling"""	10003	protein-coding gene	gene with protein product		602517	"""regulator of G-protein signalling 7"""			8548815	Standard	XM_005273218		Approved		uc001hyv.2	P49802	OTTHUMG00000040107	ENST00000407727.1:c.869A>C	1.37:g.240977005T>G	ENSP00000384428:p.Tyr290Ser		239043628	Q5T3H4|Q8TD66|Q8TD67|Q8WW09|Q9UNU7|Q9Y6B9	Missense_Mutation	SNP	superfamily_SSF46785,HMMSmart_DEP,HMMPfam_DEP,superfamily_G-protein_gamma-like,HMMPfam_G-gamma,HMMSmart_GGL,superfamily_Regulat_G_prot_signal_superfam,HMMPfam_RGS,HMMSmart_RGS	p.Y290S	ENST00000407727.1	37	c.869		1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.699069	0.88830	.	.	ENSG00000182901	ENST00000331110;ENST00000366565;ENST00000366564;ENST00000366563;ENST00000440928;ENST00000348120;ENST00000446183;ENST00000366562;ENST00000407727;ENST00000401882	T;T;T;T;T;T;T;T;T;T	0.30714	1.52;1.52;1.52;1.52;1.52;1.52;1.52;1.52;1.52;1.52	5.76	5.76	0.90799	G-protein gamma domain (4);	0.000000	0.85682	D	0.000000	T	0.59500	0.2198	M	0.85197	2.74	0.80722	D	1	D;D;D;D;D;D;D	0.76494	0.988;0.998;0.999;0.97;0.993;0.974;0.994	D;D;D;D;D;P;D	0.69142	0.948;0.962;0.962;0.913;0.936;0.848;0.962	T	0.65952	-0.6043	10	0.66056	D	0.02	-16.9615	15.2536	0.73568	0.0:0.0:0.0:1.0	.	206;264;237;290;290;290;290	B7Z223;B7Z257;P49802-4;P49802-2;P49802-5;P49802-3;P49802	.;.;.;.;.;.;RGS7_HUMAN	S	264;290;290;290;121;237;206;290;290;237	ENSP00000331485:Y264S;ENSP00000355523:Y290S;ENSP00000355522:Y290S;ENSP00000355521:Y290S;ENSP00000404399:Y121S;ENSP00000341242:Y237S;ENSP00000390138:Y206S;ENSP00000355520:Y290S;ENSP00000384428:Y290S;ENSP00000385508:Y237S	ENSP00000331485:Y264S	Y	-	2	0	RGS7	239043628	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.036000	0.88901	2.187000	0.69744	0.533000	0.62120	TAT	-	superfamily_G-protein_gamma-like,HMMPfam_G-gamma,HMMSmart_GGL		0.443	RGS7-204	KNOWN	basic	protein_coding	RGS7	protein_coding		T	NM_002924		239043628	-1	no_errors	NM_002924	genbank	human	validated	54_36p	missense	SNP	0.998	G
COPB1	1315	genome.wustl.edu	37	11	14501234	14501236	+	In_Frame_Del	DEL	GTT	GTT	-	rs149921106		TCGA-29-1698-01A-01W-0633-09	TCGA-29-1698-10A-01W-0633-09	GTT	GTT					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13d549f0-e884-484c-9c42-0e030a751d83	7066096f-fff7-4e26-822c-93b3c5d7e795	g.chr11:14501234_14501236delGTT	ENST00000249923.3	-	11	1537_1539	c.1237_1239delAAC	c.(1237-1239)aacdel	p.N413del	COPB1_ENST00000439561.2_In_Frame_Del_p.N413del|RNU7-49P_ENST00000516182.1_RNA	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	413					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|viral process (GO:0016032)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle (GO:0005798)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)	p.N413N(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						CTGCTGCTTCGTTGTTGTCACTG	0.335																																																1	Substitution - coding silent(1)	lung(1)	11																																								14457812	SO:0001651	inframe_deletion	1315			BC037280	CCDS7815.1	11p15.2	2011-05-20	2006-06-30	2006-06-30	ENSG00000129083	ENSG00000129083			2231	protein-coding gene	gene with protein product		600959	"""coatomer protein complex, subunit beta"""	COPB		7982906	Standard	NM_016451		Approved		uc001mlg.2	P53618	OTTHUMG00000165824	ENST00000249923.3:c.1237_1239delAAC	11.37:g.14501237_14501239delGTT	ENSP00000249923:p.Asn413del		14457810	D3DQX0|Q6GTT7|Q9NTK2|Q9UNW7	In_Frame_Del	DEL	HMMPfam_Adaptin_N,superfamily_ARM-type_fold,HMMPfam_Coatamer_beta_C	p.N413in_frame_del	ENST00000249923.3	37	c.1239_1237	CCDS7815.1	11																																																																																			(deletion:cds_exon[14457691,14457836])	HMMPfam_Adaptin_N,superfamily_ARM-type_fold		0.335	COPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COPB1	protein_coding	OTTHUMT00000386410.1	GTT	NM_016451		14457812	-1	no_errors	NM_016451	genbank	human	reviewed	54_36p	in_frame_del	DEL	1.000:1.000:1.000	-
GSTT1	2952	genome.wustl.edu	37	22	24373826	24373829	+	IGR	DEL	CAAT	CAAT	-			TCGA-29-1698-01A-01W-0633-09	TCGA-29-1698-10A-01W-0633-09	CAAT	CAAT					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13d549f0-e884-484c-9c42-0e030a751d83	7066096f-fff7-4e26-822c-93b3c5d7e795	g.chr22:24373826_24373829delCAAT	ENST00000248935.5	-	0	1066				KB-226F1.1_ENST00000608619.1_RNA	NM_000853.2	NP_000844.2	P30711	GSTT1_HUMAN							glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione peroxidase activity (GO:0004602)|glutathione transferase activity (GO:0004364)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)|prostate(1)|skin(1)	6					Carboplatin(DB00958)|Cisplatin(DB00515)|Etoposide(DB00773)|Glutathione(DB00143)|Oxaliplatin(DB00526)	TTCTAAAACACAATCAGAGTACTC	0.515									Myelodysplasia and Acute Myeloid Leukemia (AML), Familial																																							0			22																																								22703829	SO:0001628	intergenic_variant	391322	Familial Cancer Database	incl.: Familial Myelodysplastic syndrome (late-onset), Familial AML, Familial Monocytic Leukemia, Familial Monosomy 7 and AML																													22.37:g.24373826_24373829delCAAT			22703826	O00226|Q5TZY2|Q6IC69|Q969K8|Q96IY3	Frame_Shift_Del	DEL	HMMPfam_MIF,superfamily_Tautomerase/MIF,PatternScan_MIF	p.E124fs	ENST00000248935.5	37	c.364_367	CCDS13822.1	22																																																																																			(deletion:cds_exon[22703610,22703873])	NULL		0.515	GSTT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC391322	protein_coding	OTTHUMT00000320184.2	CAAT			22703829	+1	no_errors	XM_001726974	genbank	human	model	54_36p	frame_shift_del	DEL	0.005:0.010:0.011:0.013	-
RNASEH2B	79621	genome.wustl.edu	37	13	51519633	51519639	+	Frame_Shift_Del	DEL	TTTTCTC	TTTTCTC	-			TCGA-29-1698-01A-01W-0633-09	TCGA-29-1698-10A-01W-0633-09	TTTTCTC	TTTTCTC					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13d549f0-e884-484c-9c42-0e030a751d83	7066096f-fff7-4e26-822c-93b3c5d7e795	g.chr13:51519633_51519639delTTTTCTC	ENST00000336617.3	+	7	980_986	c.581_587delTTTTCTC	c.(580-588)tttttctctfs	p.FFS194fs	RNASEH2B_ENST00000422660.1_Frame_Shift_Del_p.FFS194fs|RNASEH2B_ENST00000495244.2_3'UTR	NM_024570.3	NP_078846.2	Q5TBB1	RNH2B_HUMAN	ribonuclease H2, subunit B	194					in utero embryonic development (GO:0001701)|negative regulation of gene expression (GO:0010629)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of DNA damage checkpoint (GO:2000001)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|ribonucleotide metabolic process (GO:0009259)|RNA catabolic process (GO:0006401)	nucleus (GO:0005634)|ribonuclease H2 complex (GO:0032299)	RNA-DNA hybrid ribonuclease activity (GO:0004523)			endometrium(2)|liver(1)|lung(1)|upper_aerodigestive_tract(1)	5		Acute lymphoblastic leukemia(7;1.03e-07)|Breast(56;0.00122)|Lung NSC(96;0.00143)|Prostate(109;0.0047)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;9e-08)		TCAACTGCATTTTTCTCTGGTGACCAA	0.401																																																0			13																																								50417640	SO:0001589	frameshift_variant	79621			AK021774	CCDS9425.1, CCDS45047.1	13q14.3	2014-09-17	2006-08-17	2006-08-17	ENSG00000136104	ENSG00000136104			25671	protein-coding gene	gene with protein product		610326	"""deleted in lymphocytic leukemia 8"", ""Aicardi-Goutieres syndrome 2"""	DLEU8, AGS2		16845400	Standard	NM_001142279		Approved	FLJ11712	uc001vfa.4	Q5TBB1	OTTHUMG00000016937	ENST00000336617.3:c.581_587delTTTTCTC	13.37:g.51519633_51519639delTTTTCTC	ENSP00000337623:p.Phe194fs		50417634	G3XAJ1|Q05DR2|Q6PK48|Q9HAF7	Frame_Shift_Del	DEL	HMMPfam_RNase_H2-Ydr279	p.F194fs	ENST00000336617.3	37	c.581_587	CCDS9425.1	13																																																																																			(deletion:cds_exon[50417564,50417669])	HMMPfam_RNase_H2-Ydr279		0.401	RNASEH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNASEH2B	protein_coding	OTTHUMT00000045006.3	TTTTCTC	NM_024570		50417640	+1	no_errors	NM_024570	genbank	human	reviewed	54_36p	frame_shift_del	DEL	0.995:0.994:0.994:0.991:0.982:0.952:0.498	-
NISCH	11188	genome.wustl.edu	37	3	52525947	52525949	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-29-1698-01A-01W-0633-09	TCGA-29-1698-10A-01W-0633-09	GAG	GAG					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13d549f0-e884-484c-9c42-0e030a751d83	7066096f-fff7-4e26-822c-93b3c5d7e795	g.chr3:52525947_52525949delGAG	ENST00000479054.1	+	22	4036_4038	c.3964_3966delGAG	c.(3964-3966)gagdel	p.E1324del	NISCH_ENST00000345716.4_In_Frame_Del_p.E1324del			Q9Y2I1	NISCH_HUMAN	nischarin	1324					actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|glucose metabolic process (GO:0006006)|negative regulation of cell migration (GO:0030336)|norepinephrine secretion (GO:0048243)|Rac protein signal transduction (GO:0016601)|regulation of blood pressure (GO:0008217)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein coupled amine receptor activity (GO:0008227)|identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	Tizanidine(DB00697)	CTACCCCAGTGAGGAGGAGATTG	0.586																																																0			3																																								52500989	SO:0001651	inframe_deletion	11188			AF082516	CCDS33767.1, CCDS63651.1, CCDS63652.1	3p21.1	2008-07-18			ENSG00000010322	ENSG00000010322			18006	protein-coding gene	gene with protein product	"""imidazoline receptor candidate"", ""I-1 receptor candidate protein"", ""imidazoline receptor antisera selected"""	615507				11912194, 10882231	Standard	NM_007184		Approved	KIAA0975, I-1, IRAS	uc003ded.4	Q9Y2I1	OTTHUMG00000158571	ENST00000479054.1:c.3964_3966delGAG	3.37:g.52525953_52525955delGAG	ENSP00000418232:p.Glu1324del		52500987	C9J245|Q6PGP3|Q6PIB4|Q7L8M3|Q7Z2X6|Q9UES6|Q9UEU4|Q9UFW3	In_Frame_Del	DEL	superfamily_PX domain,HMMPfam_PX,HMMSmart_SM00312,superfamily_Outer arm dynein light chain 1,HMMSmart_SM00365,HMMPfam_LRR_1,PatternScan_CYTOCHROME_P450	p.E1324in_frame_del	ENST00000479054.1	37	c.3964_3966	CCDS33767.1	3																																																																																			(deletion:cds_exon[52500928,52501538])	NULL		0.586	NISCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NISCH	protein_coding	OTTHUMT00000351357.1	GAG	NM_007184		52500989	+1	no_errors	NM_007184	genbank	human	validated	54_36p	in_frame_del	DEL	1.000:1.000:0.996	-
C2CD3	26005	genome.wustl.edu	37	11	73795980	73795981	+	Frame_Shift_Del	DEL	AC	AC	-	rs138900479		TCGA-29-1698-01A-01W-0633-09	TCGA-29-1698-10A-01W-0633-09	AC	AC					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13d549f0-e884-484c-9c42-0e030a751d83	7066096f-fff7-4e26-822c-93b3c5d7e795	g.chr11:73795980_73795981delAC	ENST00000334126.7	-	22	4171_4172	c.3945_3946delGT	c.(3943-3948)gagtatfs	p.Y1316fs	C2CD3_ENST00000313663.7_Frame_Shift_Del_p.Y1316fs			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1316					brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					CCAAGCAGATACTCTTTGCATG	0.371																																																0			11																																								73473629	SO:0001589	frameshift_variant	26005			BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.3945_3946delGT	11.37:g.73795980_73795981delAC	ENSP00000334379:p.Tyr1316fs		73473628	C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Frame_Shift_Del	DEL	HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_C2	p.Y1316fs	ENST00000334126.7	37	c.3946_3945		11																																																																																			(deletion:cds_exon[73473574,73473663])	superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMSmart_SM00239		0.371	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	C2CD3	protein_coding		AC	NM_015531		73473629	-1	no_errors	NM_015531	genbank	human	validated	54_36p	frame_shift_del	DEL	0.925:0.465	-
C2CD3	26005	genome.wustl.edu	37	11	73795984	73795984	+	Frame_Shift_Del	DEL	T	T	-			TCGA-29-1698-01A-01W-0633-09	TCGA-29-1698-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13d549f0-e884-484c-9c42-0e030a751d83	7066096f-fff7-4e26-822c-93b3c5d7e795	g.chr11:73795984delT	ENST00000334126.7	-	22	4168	c.3942delA	c.(3940-3942)aaafs	p.K1314fs	C2CD3_ENST00000313663.7_Frame_Shift_Del_p.K1314fs			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1314					brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					GCAGATACTCTTTGCATGACT	0.368																																																0			11											180.0	157.0	165.0					11																	73795984		2200	4293	6493	73473632	SO:0001589	frameshift_variant	26005			BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.3942delA	11.37:g.73795984delT	ENSP00000334379:p.Lys1314fs		73473632	C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Frame_Shift_Del	DEL	HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB)	p.E1315fs	ENST00000334126.7	37	c.3942		11																																																																																			(deletion:cds_exon[73473574,73473663])	HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB)		0.368	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	C2CD3	protein_coding		T	NM_015531		73473632	-1	no_errors	NM_015531	genbank	human	validated	54_36p	frame_shift_del	DEL	0.480	-
KCNN3	3782	genome.wustl.edu	37	1	154842200	154842202	+	In_Frame_Del	DEL	GCT	GCT	-	rs58327065|rs367921715|rs572995536	byFrequency	TCGA-29-1698-01A-01W-0633-09	TCGA-29-1698-10A-01W-0633-09	GCT	GCT					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13d549f0-e884-484c-9c42-0e030a751d83	7066096f-fff7-4e26-822c-93b3c5d7e795	g.chr1:154842200_154842202delGCT	ENST00000271915.4	-	1	554_556	c.239_241delAGC	c.(238-243)cagcca>cca	p.Q80del	KCNN3_ENST00000358505.2_5'Flank	NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	80	Gln-rich.				potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)	p.Q80_P81insQQ(2)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)		Miconazole(DB01110)|Procaine(DB00721)	GGATGCGGTGgctgctgctgctg	0.7																																																2	Insertion - In frame(2)	prostate(2)	1																																								153108826	SO:0001651	inframe_deletion	3782			AF031815	CCDS1072.1, CCDS30880.1, CCDS72928.1	1q21.3	2012-07-05			ENSG00000143603	ENSG00000143603		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6292	protein-coding gene	gene with protein product		602983				9491810, 16382103	Standard	NM_002249		Approved	KCa2.3, hSK3, SKCA3	uc021pah.1	Q9UGI6	OTTHUMG00000037260	ENST00000271915.4:c.239_241delAGC	1.37:g.154842209_154842211delGCT	ENSP00000271915:p.Gln80del		153108824	B1ANX0|O43517|Q86VF9|Q8WXG7	In_Frame_Del	DEL	HMMPfam_SK_channel,superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans_2,superfamily_Small-conductance potassium channel,HMMPfam_CaMBD	p.Q80in_frame_del	ENST00000271915.4	37	c.241_239	CCDS30880.1	1																																																																																			(deletion:cds_exon[153108132,153109064])	NULL		0.700	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	KCNN3	protein_coding	OTTHUMT00000090688.3	GCT	NM_002249		153108826	-1	no_errors	NM_002249	genbank	human	reviewed	54_36p	in_frame_del	DEL	0.997:0.989:0.980	-
