#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_Chromosome_hg18	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_End_position_hg18	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_Start_position_hg18	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_deletion_substructures	i_domain	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
Unknown	0	genome.wustl.edu	37	Unknown	0	0	+	IGR	SNP	C	C	T			TCGA-29-1768-01A-01W-0633-09	TCGA-29-1768-10A-01W-0634-09	C	C					Unknown	Invalid:failed_liftOver	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bde7b115-28f2-4475-862b-d07187de8cb5	7165cabf-882f-4999-a7ff-c14a275f0670	g.chrUnknown:0C>T								None (None upstream) : None (None downstream)																								0.0																																																0			NT_113923																																								51301	SO:0001628	intergenic_variant	0																															Unknown.37:g.0C>T			51301		Missense_Mutation	SNP	HMMPfam_RFPL3_antisense	p.S56F		37	c.167		NT_113923																																																																																			-	HMMPfam_RFPL3_antisense	0	0					ENSG00000215614			C			51301	+1	no_start_codon:no_stop_codon	ENST00000400675	ensembl	human	known	54_36p	missense	SNP	NULL	T
ASMTL	8623	genome.wustl.edu	37	X	1537002	1537002	+	Silent	SNP	C	C	G			TCGA-29-1768-01A-01W-0633-09	TCGA-29-1768-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bde7b115-28f2-4475-862b-d07187de8cb5	7165cabf-882f-4999-a7ff-c14a275f0670	g.chrX:1537002C>G	ENST00000381317.3	-	11	1418	c.1386G>C	c.(1384-1386)acG>acC	p.T462T	ASMTL_ENST00000381333.4_Silent_p.T446T|ASMTL_ENST00000416733.2_Silent_p.T386T|ASMTL_ENST00000534940.1_Silent_p.T404T	NM_004192.3	NP_004183.2	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like	462	ASMT-like.					cytoplasm (GO:0005737)	O-methyltransferase activity (GO:0008171)			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CCAGTGCACCCGTGCAGCCTG	0.582													c|||	3352	0.669329	0.3699	0.7161	5008	,	,		19444	0.8294		0.6859	False		,,,				2504	0.8589															0			X							,,	1770,2444		379,1012,716	82.0	99.0	93.0		1212,1338,1386	-2.9	0.5	X		93	5876,2566		2051,1774,396	no	coding-synonymous,coding-synonymous,coding-synonymous	ASMTL	NM_001173473.1,NM_001173474.1,NM_004192.3	,,	2430,2786,1112	GG,GC,CC		30.3956,42.0028,39.586	,,	404/564,446/606,462/622	1537002	7646,5010	2107	4221	6328	1497002	SO:0001819	synonymous_variant	8623			Y15521	CCDS43917.1, CCDS55362.1, CCDS55363.1	Xp22.3 and Yp11.3	2008-02-05			ENSG00000169093	ENSG00000169093		"""Pseudoautosomal regions / PAR1"""	751	protein-coding gene	gene with protein product		300162, 400011				9736779	Standard	NM_004192		Approved		uc004cpx.2	O95671	OTTHUMG00000021057	ENST00000381317.3:c.1386G>C	X.37:g.1537002C>G			1497002	B4DX75|F5GXH4|J3JS33|Q5JQ53|Q8NBH5|Q96G02|Q9BUL6	Silent	SNP	"superfamily_Maf/Ham1,HMMPfam_Maf,superfamily_""Winged helix"" DNA-binding domain,HMMPfam_Methyltransf_2,superfamily_S-adenosyl-L-methionine-dependent methyltransferases"	p.T462	ENST00000381317.3	37	c.1386	CCDS43917.1	X																																																																																			-	HMMPfam_Methyltransf_2,superfamily_S-adenosyl-L-methionine-dependent methyltransferases		0.582	ASMTL-005	KNOWN	basic|appris_principal|CCDS	protein_coding	ASMTL	protein_coding	OTTHUMT00000055595.1	C	NM_004192		1497002	-1	no_errors	NM_004192	genbank	human	validated	54_36p	silent	SNP	0.999	G
NELFA	7469	genome.wustl.edu	37	4	1985373	1985373	+	Missense_Mutation	SNP	A	A	T			TCGA-29-1768-01A-01W-0633-09	TCGA-29-1768-10A-01W-0634-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bde7b115-28f2-4475-862b-d07187de8cb5	7165cabf-882f-4999-a7ff-c14a275f0670	g.chr4:1985373A>T	ENST00000411638.2	-	10	1367	c.1352T>A	c.(1351-1353)gTc>gAc	p.V451D	MIR943_ENST00000401286.1_RNA|NELFA_ENST00000542778.1_Missense_Mutation_p.V316D|NELFA_ENST00000382882.3_Missense_Mutation_p.V462D	NM_005663.4	NP_005654.3	Q9H3P2	NELFA_HUMAN	negative elongation factor complex member A	451					gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|NELF complex (GO:0032021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)										GGGCCGCGTGACTTTGTTGGC	0.672																																																0			4											61.0	65.0	63.0					4																	1985373		2203	4300	6503	1955171	SO:0001583	missense	7469			AF101434	CCDS3358.2	4p16.3	2013-01-31	2013-01-31	2013-01-31	ENSG00000185049	ENSG00000185049			12768	protein-coding gene	gene with protein product		606026	"""Wolf-Hirschhorn syndrome candidate 2"""	WHSC2		10409432	Standard	NM_005663		Approved	NELF-A	uc003gem.3	Q9H3P2	OTTHUMG00000089967	ENST00000411638.2:c.1352T>A	4.37:g.1985373A>T	ENSP00000399165:p.Val451Asp		1955171	A2A2T1|O95392	Missense_Mutation	SNP	NULL	p.V451D	ENST00000411638.2	37	c.1352		4	.	.	.	.	.	.	.	.	.	.	A	18.46	3.627979	0.66901	.	.	ENSG00000185049	ENST00000382882;ENST00000416258;ENST00000542778;ENST00000411638	T;T;T;T	0.58940	0.3;0.3;0.3;0.3	4.83	4.83	0.62350	.	0.000000	0.64402	D	0.000001	T	0.75155	0.3811	M	0.76328	2.33	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.79052	-0.1961	10	0.87932	D	0	-38.706	14.3981	0.67025	1.0:0.0:0.0:0.0	.	451	Q9H3P2	NELFA_HUMAN	D	462;455;316;451	ENSP00000372335:V462D;ENSP00000387647:V455D;ENSP00000445757:V316D;ENSP00000399165:V451D	ENSP00000372335:V462D	V	-	2	0	WHSC2	1955171	1.000000	0.71417	0.973000	0.42090	0.283000	0.27025	7.289000	0.78701	1.823000	0.53134	0.379000	0.24179	GTC	-	NULL		0.672	NELFA-015	NOVEL	basic|appris_principal	protein_coding	WHSC2	protein_coding	OTTHUMT00000473007.1	A	NM_005663		1955171	-1	no_errors	NM_005663	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
HAUS3	79441	genome.wustl.edu	37	4	2242554	2242554	+	Silent	SNP	C	C	A			TCGA-29-1768-01A-01W-0633-09	TCGA-29-1768-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bde7b115-28f2-4475-862b-d07187de8cb5	7165cabf-882f-4999-a7ff-c14a275f0670	g.chr4:2242554C>A	ENST00000243706.4	-	2	349	c.120G>T	c.(118-120)ctG>ctT	p.L40L	POLN_ENST00000515357.1_Intron|HAUS3_ENST00000443786.2_Silent_p.L40L|HAUS3_ENST00000506763.1_Silent_p.L40L|POLN_ENST00000511885.2_Intron	NM_024511.5	NP_078787.2	Q68CZ6	HAUS3_HUMAN	HAUS augmin-like complex, subunit 3	40					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				breast(3)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						AAAACCACTTCAGAAACGATT	0.373																																																0			4											117.0	107.0	111.0					4																	2242554		2203	4300	6503	2212352	SO:0001819	synonymous_variant	79441			AF040964	CCDS33941.1	4p16.3	2013-10-11	2009-04-20	2009-04-20	ENSG00000214367	ENSG00000214367		"""HAUS augmin-like complex subunits"""	28719	protein-coding gene	gene with protein product		613430	"""chromosome 4 open reading frame 15"""	C4orf15		19427217, 19812674	Standard	NM_024511		Approved	MGC4701, IT1, dgt3	uc003ges.1	Q68CZ6		ENST00000243706.4:c.120G>T	4.37:g.2242554C>A			2212352	B4DF64|O43606|Q8TAZ5|Q9BTJ9	Silent	SNP	NULL	p.L40	ENST00000243706.4	37	c.120	CCDS33941.1	4																																																																																			-	NULL		0.373	HAUS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C4orf15	protein_coding	OTTHUMT00000357446.1	C	NM_024511		2212352	-1	no_errors	NM_024511	genbank	human	predicted	54_36p	silent	SNP	1.000	A
AJAP1	55966	genome.wustl.edu	37	1	4737478	4737478	+	Intron	SNP	A	A	G	rs78493523	byFrequency	TCGA-29-1768-01A-01W-0633-09	TCGA-29-1768-10A-01W-0634-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bde7b115-28f2-4475-862b-d07187de8cb5	7165cabf-882f-4999-a7ff-c14a275f0670	g.chr1:4737478A>G	ENST00000378191.4	+	1	410				AJAP1_ENST00000378190.3_Intron	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1						cell adhesion (GO:0007155)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		CTGCCCGGCTAATTAATTGCT	0.488													G|||	943	0.188299	0.211	0.1902	5008	,	,		16319	0.2976		0.0855	False		,,,				2504	0.1493															0			1																																								4637338	SO:0001627	intron_variant	0			AF175409	CCDS54.1	1p36.32	2008-02-05	2008-01-08		ENSG00000196581	ENSG00000196581			30801	protein-coding gene	gene with protein product	"""transmembrane protein SHREW1"""	610972				14595118	Standard	NM_001042478		Approved	SHREW1, SHREW-1, MOT8	uc001aln.3	Q9UKB5	OTTHUMG00000000645	ENST00000378191.4:c.29+21964A>G	1.37:g.4737478A>G			4637338	Q9Y229	Silent	SNP	NULL	p.I64	ENST00000378191.4	37	c.192	CCDS54.1	1																																																																																			-	NULL		0.488	AJAP1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	LOC100133966	protein_coding	OTTHUMT00000001542.3	A	NM_018836		4637338	-1	no_start_codon:pseudogene:no_stop_codon	XM_001716655	genbank	human	model	54_36p	silent	SNP	0.103	G
ACER1	125981	genome.wustl.edu	37	19	6333533	6333533	+	Silent	SNP	G	G	A	rs78590644	byFrequency	TCGA-29-1768-01A-01W-0633-09	TCGA-29-1768-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bde7b115-28f2-4475-862b-d07187de8cb5	7165cabf-882f-4999-a7ff-c14a275f0670	g.chr19:6333533G>A	ENST00000301452.4	-	1	107	c.30C>T	c.(28-30)tcC>tcT	p.S10S		NM_133492.2	NP_597999.1	Q8TDN7	ACER1_HUMAN	alkaline ceramidase 1	10					cell differentiation (GO:0030154)|cellular response to calcium ion (GO:0071277)|ceramide catabolic process (GO:0046514)|epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)|regulation of lipid metabolic process (GO:0019216)|response to alkaline pH (GO:0010446)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ceramidase activity (GO:0017040)|dihydroceramidase activity (GO:0071633)			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)	15						AGTCCACCTCGGAGCTCTGAT	0.612													G|||	173	0.0345447	0.0998	0.0202	5008	,	,		17320	0.0		0.0139	False		,,,				2504	0.0133															0			19						G		393,4009		16,361,1824	62.0	42.0	49.0		30	-6.4	0.9	19	dbSNP_131	49	155,8441		4,147,4147	no	coding-synonymous	ACER1	NM_133492.2		20,508,5971	AA,AG,GG		1.8032,8.9278,4.216		10/265	6333533	548,12450	2201	4298	6499	6284533	SO:0001819	synonymous_variant	125981			AF347024	CCDS12161.1	19p13.3	2013-01-25	2008-12-19	2008-12-19	ENSG00000167769	ENSG00000167769	3.5.1.23	"""Alkaline ceramidase"""	18356	protein-coding gene	gene with protein product		613491	"""N-acylsphingosine amidohydrolase (alkaline ceramidase) 3"""	ASAH3		12783875	Standard	NM_133492		Approved		uc002mel.2	Q8TDN7		ENST00000301452.4:c.30C>T	19.37:g.6333533G>A			6284533		Silent	SNP	HMMPfam_aPHC	p.S10	ENST00000301452.4	37	c.30	CCDS12161.1	19																																																																																			-	HMMPfam_aPHC		0.612	ACER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACER1	protein_coding	OTTHUMT00000452982.1	G	NM_133492		6284533	-1	no_errors	NM_133492	genbank	human	validated	54_36p	silent	SNP	0.974	A
XKR5	389610	genome.wustl.edu	37	8	6690246	6690246	+	RNA	SNP	A	A	G			TCGA-29-1768-01A-01W-0633-09	TCGA-29-1768-10A-01W-0634-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bde7b115-28f2-4475-862b-d07187de8cb5	7165cabf-882f-4999-a7ff-c14a275f0670	g.chr8:6690246A>G	ENST00000518724.1	-	0	385				GS1-24F4.2_ENST00000500823.2_lincRNA			Q6UX68	XKR5_HUMAN	XK, Kell blood group complex subunit-related family, member 5							integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(1)	3			STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)		TACCGCTTCCAAACACCAAGC	0.542																																																0			8											86.0	96.0	92.0					8																	6690246		2099	4222	6321	6677656			389610			AY358489		8p23.1	2006-01-12	2006-01-12		ENSG00000186530	ENSG00000275591			20782	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 5"""				Standard	NM_207411		Approved		uc022aqv.1	Q6UX68	OTTHUMG00000153652		8.37:g.6690246A>G			6677656	Q5GH74	Missense_Mutation	SNP	HMMPfam_XK-related	p.W79R	ENST00000518724.1	37	c.235		8																																																																																			-	HMMPfam_XK-related		0.542	XKR5-001	KNOWN	basic	processed_transcript	XKR5	processed_transcript	OTTHUMT00000331969.2	A	NM_207411		6677656	-1	no_errors	NM_207411	genbank	human	validated	54_36p	missense	SNP	1.000	G
TP53	7157	genome.wustl.edu	37	17	7578403	7578403	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1768-01A-01W-0633-09	TCGA-29-1768-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bde7b115-28f2-4475-862b-d07187de8cb5	7165cabf-882f-4999-a7ff-c14a275f0670	g.chr17:7578403C>A	ENST00000269305.4	-	5	716	c.527G>T	c.(526-528)tGc>tTc	p.C176F	TP53_ENST00000413465.2_Missense_Mutation_p.C176F|TP53_ENST00000359597.4_Missense_Mutation_p.C176F|TP53_ENST00000420246.2_Missense_Mutation_p.C176F|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.C176F|TP53_ENST00000455263.2_Missense_Mutation_p.C176F	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	176	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:8829627, ECO:0000269|PubMed:9450901}.|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation).|CP -> FS (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.C176F(129)|p.C176Y(63)|p.C83F(9)|p.C44F(9)|p.C176S(8)|p.0?(8)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.C44Y(3)|p.C83Y(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.C176del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H178fs*3(1)|p.R174fs*3(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)	ATGGTGGGGGCAGCGCCTCAC	0.652		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"""	267	Substitution - Missense(224)|Deletion - Frameshift(18)|Deletion - In frame(13)|Whole gene deletion(8)|Complex - deletion inframe(3)|Insertion - Frameshift(1)	lung(42)|large_intestine(38)|upper_aerodigestive_tract(36)|oesophagus(26)|breast(26)|liver(20)|ovary(19)|haematopoietic_and_lymphoid_tissue(13)|stomach(10)|central_nervous_system(9)|bone(9)|urinary_tract(7)|genital_tract(2)|skin(2)|pancreas(2)|prostate(2)|adrenal_gland(1)|vulva(1)|biliary_tract(1)|endometrium(1)	17											49.0	49.0	49.0					17																	7578403		2203	4300	6503	7519128	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.527G>T	17.37:g.7578403C>A	ENSP00000269305:p.Cys176Phe		7519128	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.C176F	ENST00000269305.4	37	c.527	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	23.6	4.433429	0.83776	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99982	-10.61;-10.61;-10.61;-10.61;-10.61;-10.61;-10.61;-10.61	5.59	4.61	0.57282	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.092184	0.85682	D	0.000000	D	0.99981	0.9994	M	0.92923	3.36	0.80722	D	1	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	0.91635	0.999;0.994;0.996;0.998;0.997;0.995;0.997	D	0.96187	0.9135	10	0.87932	D	0	-18.1821	13.8336	0.63395	0.1543:0.8457:0.0:0.0	.	137;176;176;83;176;176;176	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	F	176;176;176;176;176;176;165;83;44;83;44	ENSP00000410739:C176F;ENSP00000352610:C176F;ENSP00000269305:C176F;ENSP00000398846:C176F;ENSP00000391127:C176F;ENSP00000391478:C176F;ENSP00000425104:C44F;ENSP00000423862:C83F	ENSP00000269305:C176F	C	-	2	0	TP53	7519128	1.000000	0.71417	0.999000	0.59377	0.851000	0.48451	7.775000	0.85489	1.472000	0.48140	0.655000	0.94253	TGC	-	HMMPfam_P53,superfamily_p53-like transcription factors		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	C	NM_000546		7519128	-1	no_errors	NM_000546	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
Unknown	0	genome.wustl.edu	37	4	9588929	9588929	+	IGR	SNP	T	T	C	rs112868347		TCGA-29-1768-01A-01W-0633-09	TCGA-29-1768-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bde7b115-28f2-4475-862b-d07187de8cb5	7165cabf-882f-4999-a7ff-c14a275f0670	g.chr4:9588929T>C								MIR548I2 (30992 upstream) : AC097493.1 (13022 downstream)																							TAGACACTCATGCACCATCAC	0.398																																																0			4																																								9198027	SO:0001628	intergenic_variant	0																															4.37:g.9588929T>C			9198027		RNA	SNP	-	NULL		37	NULL		4																																																																																			-	-	0	0.398					LOC100130675			T			9198027	-1	pseudogene	XR_037220	genbank	human	model	54_36p	rna	SNP	0.003	C
Unknown	0	genome.wustl.edu	37	X	9377318	9377318	+	IGR	SNP	T	T	C	rs200989295|rs79897683		TCGA-29-1768-01A-01W-0633-09	TCGA-29-1768-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bde7b115-28f2-4475-862b-d07187de8cb5	7165cabf-882f-4999-a7ff-c14a275f0670	g.chrX:9377318T>C								GS1-519E5.1 (134072 upstream) : TBL1X (54016 downstream)																							GCAAGCGAGATGATGCTCAGT	0.512																																																0			X																																								9337318	SO:0001628	intergenic_variant	0																															X.37:g.9377318T>C			9337318		RNA	SNP	-	NULL		37	NULL		X																																																																																			-	-	0	0.512					LOC100132768			T			9337318	+1	pseudogene	XR_037393	genbank	human	model	54_36p	rna	SNP	0.939	C
UEVLD	55293	genome.wustl.edu	37	11	18566212	18566212	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1768-01A-01W-0633-09	TCGA-29-1768-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bde7b115-28f2-4475-862b-d07187de8cb5	7165cabf-882f-4999-a7ff-c14a275f0670	g.chr11:18566212C>G	ENST00000541984.1	-	6	609	c.547G>C	c.(547-549)Ggc>Cgc	p.G183R	UEVLD_ENST00000543987.1_Missense_Mutation_p.G340R|UEVLD_ENST00000379387.4_Missense_Mutation_p.G318R|UEVLD_ENST00000540666.1_5'UTR|UEVLD_ENST00000535484.1_Missense_Mutation_p.G302R|UEVLD_ENST00000320750.6_Missense_Mutation_p.G318R|UEVLD_ENST00000396197.3_Missense_Mutation_p.G340R	NM_001261386.1	NP_001248315.1			UEV and lactate/malate dehyrogenase domains											endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						ACTTCTTTGCCTGAAGTCTGT	0.408																																																0			11											207.0	196.0	199.0					11																	18566212		2199	4293	6492	18522788	SO:0001583	missense	55293			AF503350	CCDS7843.1, CCDS41624.1, CCDS58122.1, CCDS58123.1, CCDS58124.1, CCDS58125.1, CCDS73266.1	11p15.1	2006-07-14			ENSG00000151116	ENSG00000151116			30866	protein-coding gene	gene with protein product		610985				12427560	Standard	NM_001040697		Approved	Attp, UEV3	uc001mot.4	Q8IX04	OTTHUMG00000167729	ENST00000541984.1:c.547G>C	11.37:g.18566212C>G	ENSP00000437538:p.Gly183Arg		18522788		Missense_Mutation	SNP	superfamily_UBC-like,HMMPfam_UEV,superfamily_NAD(P)-binding Rossmann-fold domains,HMMPfam_Ldh_1_N,superfamily_LDH C-terminal domain-like,HMMPfam_Ldh_1_C	p.G340R	ENST00000541984.1	37	c.1018	CCDS58125.1	11	.	.	.	.	.	.	.	.	.	.	C	21.1	4.096978	0.76870	.	.	ENSG00000151116	ENST00000543987;ENST00000535484;ENST00000396197;ENST00000320750;ENST00000379387;ENST00000540110;ENST00000541984	D;D;T;D;T;T	0.82255	-1.59;-1.59;-0.04;-1.59;-0.04;-0.99	5.74	5.74	0.90152	Lactate/malate dehydrogenase, C-terminal (1);Lactate dehydrogenase/glycoside hydrolase, family 4, C-terminal (2);	0.067799	0.64402	D	0.000020	D	0.88800	0.6535	L	0.56769	1.78	0.80722	D	1	D;D;D;D	0.65815	0.971;0.995;0.964;0.986	P;P;P;P	0.58820	0.725;0.829;0.5;0.846	D	0.89060	0.3462	10	0.72032	D	0.01	-13.6067	19.9326	0.97124	0.0:1.0:0.0:0.0	.	318;318;340;340	B4DL43;Q8IX04-3;Q8IX04-2;Q8IX04	.;.;.;UEVLD_HUMAN	R	340;302;340;318;318;117;183	ENSP00000442974:G340R;ENSP00000441092:G302R;ENSP00000379500:G340R;ENSP00000323353:G318R;ENSP00000368697:G318R;ENSP00000437538:G183R	ENSP00000323353:G318R	G	-	1	0	UEVLD	18522788	0.998000	0.40836	1.000000	0.80357	0.963000	0.63663	4.151000	0.58105	2.720000	0.93068	0.650000	0.86243	GGC	-	superfamily_LDH C-terminal domain-like		0.408	UEVLD-015	NOVEL	basic|exp_conf|CCDS	protein_coding	UEVLD	protein_coding	OTTHUMT00000395928.1	C	NM_018314		18522788	-1	no_errors	NM_001040697	genbank	human	validated	54_36p	missense	SNP	0.993	G
RP11-146E13.4	0	genome.wustl.edu	37	14	19825369	19825369	+	lincRNA	SNP	G	G	A	rs61971250		TCGA-29-1768-01A-01W-0633-09	TCGA-29-1768-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bde7b115-28f2-4475-862b-d07187de8cb5	7165cabf-882f-4999-a7ff-c14a275f0670	g.chr14:19825369G>A	ENST00000548109.1	+	0	72																											GTCTGGCCGCGGATGAACATC	0.532																																																0			14																																								18895369			0																															14.37:g.19825369G>A			18895369		RNA	SNP	-	NULL	ENST00000548109.1	37	NULL		14																																																																																			-	-		0.532	RP11-146E13.4-001	KNOWN	basic	lincRNA	LOC100132238	lincRNA	OTTHUMT00000409408.1	G			18895369	-1	pseudogene	XR_037326	genbank	human	model	54_36p	rna	SNP	0.040	A
NPC1	4864	genome.wustl.edu	37	18	21114410	21114410	+	Splice_Site	SNP	G	G	A	rs191776973		TCGA-29-1768-01A-01W-0633-09	TCGA-29-1768-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bde7b115-28f2-4475-862b-d07187de8cb5	7165cabf-882f-4999-a7ff-c14a275f0670	g.chr18:21114410G>A	ENST00000269228.5	-	23	4145	c.3591C>T	c.(3589-3591)tcC>tcT	p.S1197S	NPC1_ENST00000412552.2_Splice_Site_p.S879S	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	1197					adult walking behavior (GO:0007628)|autophagy (GO:0006914)|bile acid metabolic process (GO:0008206)|cellular response to low-density lipoprotein particle stimulus (GO:0071404)|cellular response to steroid hormone stimulus (GO:0071383)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|establishment of protein localization to membrane (GO:0090150)|lysosomal transport (GO:0007041)|membrane raft organization (GO:0031579)|negative regulation of cell death (GO:0060548)|negative regulation of macroautophagy (GO:0016242)|protein glycosylation (GO:0006486)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|membrane raft (GO:0045121)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	cholesterol binding (GO:0015485)|hedgehog receptor activity (GO:0008158)|receptor activity (GO:0004872)|sterol transporter activity (GO:0015248)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					GGGTACTCACGGAGCTGCCCA	0.587													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20294	0.0		0.0	False		,,,				2504	0.0															0			18						G		2,4404	4.2+/-10.8	0,2,2201	56.0	49.0	52.0		3591	-7.6	0.9	18		52	0,8600		0,0,4300	yes	coding-synonymous-near-splice	NPC1	NM_000271.4		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		1197/1279	21114410	2,13004	2203	4300	6503	19368408	SO:0001630	splice_region_variant	4864			AF002020	CCDS11878.1	18q11.2	2014-06-17			ENSG00000141458	ENSG00000141458			7897	protein-coding gene	gene with protein product		607623				8446622	Standard	NM_000271		Approved		uc002kum.4	O15118	OTTHUMG00000131873	ENST00000269228.5:c.3591+1C>T	18.37:g.21114410G>A			19368408	B4DET3|Q9P130	Silent	SNP	HMMPfam_Patched,superfamily_SSF82866	p.S1197	ENST00000269228.5	37	c.3591	CCDS11878.1	18																																																																																			-	HMMPfam_Patched,superfamily_SSF82866		0.587	NPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPC1	protein_coding	OTTHUMT00000254823.2	G	NM_000271	Silent	19368408	-1	no_errors	NM_000271	genbank	human	validated	54_36p	silent	SNP	0.895	A
GGT5	2687	genome.wustl.edu	37	22	24622737	24622737	+	Splice_Site	SNP	T	T	C			TCGA-29-1768-01A-01W-0633-09	TCGA-29-1768-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bde7b115-28f2-4475-862b-d07187de8cb5	7165cabf-882f-4999-a7ff-c14a275f0670	g.chr22:24622737T>C	ENST00000327365.4	-	7	1318		c.e7-2		GGT5_ENST00000418439.2_Splice_Site|GGT5_ENST00000398292.3_Splice_Site|GGT5_ENST00000263112.7_Splice_Site	NM_001099781.1|NM_004121.2	NP_001093251.1|NP_004112.2	P36269	GGT5_HUMAN	gamma-glutamyltransferase 5						arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|inflammatory response (GO:0006954)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)	anchored component of external side of plasma membrane (GO:0031362)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						AGTTGAACCCTGGAGAGAGGT	0.547																																																0			22											116.0	105.0	108.0					22																	24622737		2203	4300	6503	22952737	SO:0001630	splice_region_variant	2687			M64099	CCDS13825.1, CCDS42989.1, CCDS42990.1	22q11.23	2008-03-25	2008-03-10	2008-03-10	ENSG00000099998	ENSG00000099998		"""Gamma-glutamyltransferases"""	4260	protein-coding gene	gene with protein product		137168	"""gamma-glutamyltransferase-like activity 1"""	GGTLA1		1676842, 8095916, 18357469	Standard	NM_004121		Approved	GGT-REL	uc002zzp.4	P36269	OTTHUMG00000150796	ENST00000327365.4:c.902-2A>G	22.37:g.24622737T>C			22952737	Q53XM9|Q6GMP0|Q96FC1|Q9UFM5	Splice_Site	SNP	-	e7-2	ENST00000327365.4	37	c.902-2	CCDS13825.1	22	.	.	.	.	.	.	.	.	.	.	T	7.442	0.640816	0.14386	.	.	ENSG00000099998	ENST00000327365;ENST00000263112;ENST00000438024;ENST00000398292;ENST00000418439	.	.	.	3.19	3.19	0.36642	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.7882	0.40688	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	GGT5	22952737	1.000000	0.71417	0.990000	0.47175	0.060000	0.15804	6.071000	0.71229	1.471000	0.48121	0.392000	0.25879	.	-	-		0.547	GGT5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GGT5	protein_coding	OTTHUMT00000320119.1	T	NM_004121	Intron	22952737	-1	no_errors	NM_001099781	genbank	human	reviewed	54_36p	splice_site	SNP	0.994	C
MYO18A	399687	genome.wustl.edu	37	17	27446363	27446363	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1768-01A-01W-0633-09	TCGA-29-1768-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bde7b115-28f2-4475-862b-d07187de8cb5	7165cabf-882f-4999-a7ff-c14a275f0670	g.chr17:27446363C>G	ENST00000527372.1	-	8	1999	c.1819G>C	c.(1819-1821)Ggc>Cgc	p.G607R	MYO18A_ENST00000531253.1_Missense_Mutation_p.G607R|MYO18A_ENST00000533112.1_Missense_Mutation_p.G607R|MYO18A_ENST00000354329.4_Missense_Mutation_p.G607R	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	607	Myosin motor.				actomyosin structure organization (GO:0031032)|cell migration (GO:0016477)|DNA metabolic process (GO:0006259)|Golgi organization (GO:0007030)|Golgi vesicle budding (GO:0048194)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein secretion (GO:0050714)	actomyosin (GO:0042641)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|myosin complex (GO:0016459)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			CTGAGGGTGCCATCCCCACAG	0.562																																					Esophageal Squamous(182;472 2015 7001 15270 22562)											0			17											44.0	48.0	47.0					17																	27446363		2006	4182	6188	24470489	SO:0001583	missense	399687			D86970	CCDS45641.1, CCDS45642.1	17q11.2	2011-09-27			ENSG00000196535	ENSG00000196535		"""Myosins / Myosin superfamily : Class XVIII"""	31104	protein-coding gene	gene with protein product		610067				12761286	Standard	NM_078471		Approved	KIAA0216, MysPDZ	uc002hdt.1	Q92614	OTTHUMG00000166360	ENST00000527372.1:c.1819G>C	17.37:g.27446363C>G	ENSP00000437073:p.Gly607Arg		24470489	Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Missense_Mutation	SNP	superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00242,HMMPfam_Myosin_head,HMMSmart_SM00015,HMMPfam_IQ,superfamily_Prefoldin	p.G607R	ENST00000527372.1	37	c.1819	CCDS45642.1	17	.	.	.	.	.	.	.	.	.	.	C	12.96	2.094270	0.36952	.	.	ENSG00000196535	ENST00000354329;ENST00000359450;ENST00000533112;ENST00000531253;ENST00000527372;ENST00000458428	D;D;D;D	0.86694	-2.16;-2.16;-2.16;-2.16	5.58	-4.46	0.03536	Myosin head, motor domain (2);DNA recombination/repair protein RecA, monomer-monomer interface (1);	0.483712	0.27896	N	0.017420	T	0.78698	0.4324	L	0.33245	0.995	0.30044	N	0.812321	B;B;B;B;B	0.22480	0.07;0.008;0.009;0.002;0.07	B;B;B;B;B	0.29716	0.106;0.001;0.013;0.001;0.039	T	0.64753	-0.6333	10	0.30854	T	0.27	.	14.4485	0.67370	0.0:0.1878:0.0:0.8122	.	276;219;607;607;607	Q92614-2;F8W6Y3;Q92614-3;Q92614-4;Q92614	.;.;.;.;MY18A_HUMAN	R	607;607;607;607;607;219	ENSP00000346291:G607R;ENSP00000435932:G607R;ENSP00000434228:G607R;ENSP00000437073:G607R	ENSP00000346291:G607R	G	-	1	0	MYO18A	24470489	0.996000	0.38824	0.093000	0.20910	0.990000	0.78478	0.527000	0.22987	-0.586000	0.05898	-0.150000	0.13652	GGC	-	superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00242,HMMPfam_Myosin_head		0.562	MYO18A-001	KNOWN	basic|CCDS	protein_coding	MYO18A	protein_coding	OTTHUMT00000389396.1	C	NM_078471		24470489	-1	no_errors	NM_078471	genbank	human	validated	54_36p	missense	SNP	0.985	G
PLAA	9373	genome.wustl.edu	37	9	26906068	26906068	+	Missense_Mutation	SNP	A	A	G			TCGA-29-1768-01A-01W-0633-09	TCGA-29-1768-10A-01W-0634-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bde7b115-28f2-4475-862b-d07187de8cb5	7165cabf-882f-4999-a7ff-c14a275f0670	g.chr9:26906068A>G	ENST00000397292.3	-	14	2246	c.1829T>C	c.(1828-1830)gTc>gCc	p.V610A		NM_001031689.2	NP_001026859.1	Q9Y263	PLAP_HUMAN	phospholipase A2-activating protein	610	PUL. {ECO:0000255|PROSITE- ProRule:PRU00729}.				inflammatory response (GO:0006954)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)	phospholipase A2 activator activity (GO:0016005)			breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)		TGCAGGAAAGACAATATCTAT	0.338																																					Melanoma(175;2670 2735 14091 35526)											0			9											25.0	27.0	26.0					9																	26906068		2139	4264	6403	26896068	SO:0001583	missense	9373			AF083395	CCDS35000.1	9p21	2013-01-10			ENSG00000137055	ENSG00000137055		"""WD repeat domain containing"""	9043	protein-coding gene	gene with protein product	"""DOA1 homolog (S. cerevisiae)"""	603873				9931468, 10644453	Standard	NM_001031689		Approved	PLAP, PLA2P, FLJ11281, FLJ12699, DOA1	uc003zqd.3	Q9Y263	OTTHUMG00000019708	ENST00000397292.3:c.1829T>C	9.37:g.26906068A>G	ENSP00000380460:p.Val610Ala		26896068	Q53EU5|Q5VY33|Q9NUL8|Q9NVE9|Q9UF53|Q9Y5L1	Missense_Mutation	SNP	PatternScan_WD_REPEATS_1,superfamily_WD40_like,HMMSmart_WD40,HMMPfam_WD40,HMMPfam_PFU,HMMPfam_PUL,superfamily_ARM-type_fold	p.V610A	ENST00000397292.3	37	c.1829	CCDS35000.1	9	.	.	.	.	.	.	.	.	.	.	A	19.07	3.756722	0.69648	.	.	ENSG00000137055	ENST00000397292	T	0.49432	0.78	6.07	6.07	0.98685	PUL (2);	0.052081	0.85682	D	0.000000	T	0.62208	0.2409	M	0.67397	2.05	0.80722	D	1	D	0.58970	0.984	P	0.62435	0.902	T	0.57871	-0.7736	10	0.10377	T	0.69	-10.9168	16.6406	0.85098	1.0:0.0:0.0:0.0	.	610	Q9Y263	PLAP_HUMAN	A	610	ENSP00000380460:V610A	ENSP00000380460:V610A	V	-	2	0	PLAA	26896068	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.718000	0.91430	2.326000	0.78906	0.533000	0.62120	GTC	-	HMMPfam_PUL,superfamily_ARM-type_fold		0.338	PLAA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLAA	protein_coding	OTTHUMT00000051958.2	A	NM_001031689		26896068	-1	no_errors	NM_001031689	genbank	human	validated	54_36p	missense	SNP	1.000	G
EQTN	54586	genome.wustl.edu	37	9	27294324	27294324	+	Silent	SNP	A	A	T			TCGA-29-1768-01A-01W-0633-09	TCGA-29-1768-10A-01W-0634-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bde7b115-28f2-4475-862b-d07187de8cb5	7165cabf-882f-4999-a7ff-c14a275f0670	g.chr9:27294324A>T	ENST00000380032.3	-	3	362	c.279T>A	c.(277-279)gcT>gcA	p.A93A	EQTN_ENST00000380031.1_Silent_p.A93A|EQTN_ENST00000484994.1_5'UTR|EQTN_ENST00000537675.1_Silent_p.A93A	NM_020641.2	NP_065692.2	Q9NQ60	EQTN_HUMAN	equatorin, sperm acrosome associated	93					acrosomal vesicle exocytosis (GO:0060478)|endocytosis (GO:0006897)|fusion of sperm to egg plasma membrane (GO:0007342)	early endosome (GO:0005769)|inner acrosomal membrane (GO:0002079)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|outer acrosomal membrane (GO:0002081)|plasma membrane (GO:0005886)											CGTTTTTTAGAGCAAAATTCA	0.383																																																0			9											148.0	122.0	131.0					9																	27294324		2202	4300	6502	27284324	SO:0001819	synonymous_variant	54586			AJ278482	CCDS35001.1, CCDS55300.1	9p21	2012-09-20	2012-09-20	2012-09-20	ENSG00000120160	ENSG00000120160			1359	protein-coding gene	gene with protein product	"""Acr formation associated factor"", ""Acrosome formation associated factor"", ""sperm acrosome associated 8"""		"""chromosome 9 open reading frame 11"", ""equatorin"""	C9orf11			Standard	NM_020641		Approved	AFAF, SPACA8, equatorin	uc003zql.3	Q9NQ60	OTTHUMG00000021033	ENST00000380032.3:c.279T>A	9.37:g.27294324A>T			27284324	B2RPB3|B7ZMK1|Q5TCU1|Q96L22	Silent	SNP	NULL	p.A93	ENST00000380032.3	37	c.279	CCDS35001.1	9																																																																																			-	NULL		0.383	EQTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C9orf11	protein_coding	OTTHUMT00000055499.1	A	NM_020641		27284324	-1	no_errors	NM_020641	genbank	human	provisional	54_36p	silent	SNP	0.000	T
EPB41	2035	genome.wustl.edu	37	1	29314193	29314193	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1768-01A-01W-0633-09	TCGA-29-1768-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bde7b115-28f2-4475-862b-d07187de8cb5	7165cabf-882f-4999-a7ff-c14a275f0670	g.chr1:29314193C>G	ENST00000343067.4	+	2	371	c.244C>G	c.(244-246)Cta>Gta	p.L82V	EPB41_ENST00000373798.1_Missense_Mutation_p.L82V|EPB41_ENST00000373797.1_Missense_Mutation_p.L82V|EPB41_ENST00000373800.3_5'UTR|EPB41_ENST00000347529.3_Missense_Mutation_p.L82V|EPB41_ENST00000356093.2_Missense_Mutation_p.L82V|Y_RNA_ENST00000383977.1_RNA|EPB41_ENST00000349460.4_5'UTR|EPB41_ENST00000398863.2_Missense_Mutation_p.L82V	NM_001166005.1	NP_001159477.1	P11171	41_HUMAN	erythrocyte membrane protein band 4.1	82					actin cytoskeleton organization (GO:0030036)|blood circulation (GO:0008015)|cortical actin cytoskeleton organization (GO:0030866)|positive regulation of protein binding (GO:0032092)	cortical cytoskeleton (GO:0030863)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	1-phosphatidylinositol binding (GO:0005545)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		ACTTTCACGACTATTCTCCTC	0.448																																																0			1											145.0	136.0	139.0					1																	29314193		2203	4300	6503	29186780	SO:0001583	missense	2035			BC039079	CCDS330.1, CCDS331.1, CCDS332.1, CCDS53288.1, CCDS53289.1	1p33-p32	2014-05-09	2014-05-09		ENSG00000159023	ENSG00000159023			3377	protein-coding gene	gene with protein product		130500	"""elliptocytosis 1, RH-linked"""	EL1			Standard	NM_001166005		Approved	4.1R	uc001brm.2	P11171	OTTHUMG00000003644	ENST00000343067.4:c.244C>G	1.37:g.29314193C>G	ENSP00000345259:p.Leu82Val		29186780	B1ALH8|B1ALH9|D3DPM9|D3DPN0|P11176|Q14245|Q5TB35|Q5VXN8|Q8IXV9|Q9Y578|Q9Y579	Missense_Mutation	SNP	HMMSmart_B41,superfamily_SSF54236,HMMPfam_FERM_N,PatternScan_FERM_1,superfamily_FERM_3-hlx,HMMPfam_FERM_M,PatternScan_FERM_2,superfamily_SSF50729,HMMPfam_FERM_C,HMMPfam_FA,HMMPfam_SAB,HMMPfam_4_1_CTD	p.L82V	ENST00000343067.4	37	c.244	CCDS53288.1	1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.397697	0.83120	.	.	ENSG00000159023	ENST00000358989;ENST00000343067;ENST00000356093;ENST00000398863;ENST00000398861;ENST00000398865;ENST00000347529;ENST00000373798;ENST00000373797	D;D;D;D;D;D	0.87103	-2.2;-2.16;-2.0;-2.17;-2.2;-2.21	5.6	5.6	0.85130	.	0.164687	0.39407	N	0.001362	D	0.90556	0.7040	L	0.34521	1.04	0.46149	D	0.99889	D;D;D;D;D	0.76494	0.998;0.99;0.999;0.999;0.999	D;D;D;D;D	0.87578	0.99;0.915;0.995;0.998;0.995	D	0.91416	0.5155	10	0.72032	D	0.01	.	18.6548	0.91448	0.0:1.0:0.0:0.0	.	82;82;82;82;82	C9JTS2;P11171;P11171-2;P11171-7;P11171-5	.;41_HUMAN;.;.;.	V	99;82;82;82;82;82;82;82;82	ENSP00000345259:L82V;ENSP00000348397:L82V;ENSP00000381839:L82V;ENSP00000290100:L82V;ENSP00000362904:L82V;ENSP00000362903:L82V	ENSP00000345259:L82V	L	+	1	2	EPB41	29186780	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	2.805000	0.47939	2.633000	0.89246	0.650000	0.86243	CTA	-	NULL		0.448	EPB41-201	KNOWN	basic|appris_principal|CCDS	protein_coding	EPB41	protein_coding	OTTHUMT00000010312.1	C	NM_203342		29186780	+1	no_errors	NM_203343	genbank	human	validated	54_36p	missense	SNP	1.000	G
PDE1C	5137	genome.wustl.edu	37	7	31918638	31918638	+	Silent	SNP	G	G	A	rs187122903	byFrequency	TCGA-29-1768-01A-01W-0633-09	TCGA-29-1768-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bde7b115-28f2-4475-862b-d07187de8cb5	7165cabf-882f-4999-a7ff-c14a275f0670	g.chr7:31918638G>A	ENST00000396191.1	-	4	851	c.396C>T	c.(394-396)caC>caT	p.H132H	PDE1C_ENST00000396184.3_Silent_p.H132H|PDE1C_ENST00000321453.7_Silent_p.H132H|PDE1C_ENST00000396182.2_Silent_p.H132H|PDE1C_ENST00000396193.1_Silent_p.H192H	NM_001191057.1	NP_001177986.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	132					activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)	cytosol (GO:0005829)	calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)	p.H132H(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)		Caffeine(DB00201)	CCTGCACTGCGTGAACGATGC	0.522													G|||	3	0.000599042	0.0	0.0	5008	,	,		18243	0.003		0.0	False		,,,				2504	0.0															2	Substitution - coding silent(2)	large_intestine(2)	7											139.0	126.0	131.0					7																	31918638		2203	4300	6503	31885163	SO:0001819	synonymous_variant	5137			U40371	CCDS5437.1, CCDS55099.1, CCDS55100.1	7p15.1-p14.3	2008-05-15	2002-08-29		ENSG00000154678	ENSG00000154678	3.1.4.17	"""Phosphodiesterases"""	8776	protein-coding gene	gene with protein product		602987	"""phosphodiesterase 1C, calmodulin-dependent (70kD)"""			8557689	Standard	XM_005249769		Approved	Hcam3	uc003tco.2	Q14123	OTTHUMG00000023836	ENST00000396191.1:c.396C>T	7.37:g.31918638G>A			31885163	B3KPC6|E9PE92|Q14124|Q8NB10	Silent	SNP	HMMPfam_PDEase_I_N,superfamily_SSF109604,HMMSmart_HDc,HMMPfam_PDEase_I,PatternScan_PDEASE_I	p.H132	ENST00000396191.1	37	c.396	CCDS55099.1	7																																																																																			-	HMMPfam_PDEase_I_N		0.522	PDE1C-006	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	PDE1C	protein_coding	OTTHUMT00000328458.1	G			31885163	-1	no_errors	NM_005020	genbank	human	provisional	54_36p	silent	SNP	0.998	A
SCN5A	6331	genome.wustl.edu	37	3	38618270	38618270	+	Silent	SNP	G	G	A	rs374086567		TCGA-29-1768-01A-01W-0633-09	TCGA-29-1768-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bde7b115-28f2-4475-862b-d07187de8cb5	7165cabf-882f-4999-a7ff-c14a275f0670	g.chr3:38618270G>A	ENST00000333535.4	-	19	3542	c.3393C>T	c.(3391-3393)acC>acT	p.T1131T	SCN5A_ENST00000425664.1_Silent_p.T1131T|SCN5A_ENST00000413689.1_Silent_p.T1131T|SCN5A_ENST00000455624.2_Silent_p.T1130T|SCN5A_ENST00000450102.2_Silent_p.T1077T|SCN5A_ENST00000451551.2_Silent_p.T1077T|SCN5A_ENST00000423572.2_Silent_p.T1130T|SCN5A_ENST00000414099.2_Silent_p.T1131T|SCN5A_ENST00000443581.1_Silent_p.T1130T|SCN5A_ENST00000449557.2_Silent_p.T1077T			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1131			T -> I (in ATFB10). {ECO:0000269|PubMed:18378609}.		AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	TGTCCTCTGGGGTCTATGGAC	0.617																																																0			3						G	,,,,,	1,4221		0,1,2110	34.0	37.0	36.0		3390,3393,3393,3390,3231,3393	-5.1	0.0	3		36	0,8496		0,0,4248	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SCN5A	NM_000335.4,NM_001099404.1,NM_001099405.1,NM_001160160.1,NM_001160161.1,NM_198056.2	,,,,,	0,1,6358	AA,AG,GG		0.0,0.0237,0.0079	,,,,,	1130/2016,1131/2017,1131/1999,1130/1984,1077/1963,1131/2017	38618270	1,12717	2111	4248	6359	38593274	SO:0001819	synonymous_variant	6331			AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.3393C>T	3.37:g.38618270G>A			38593274	A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Silent	SNP	superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans,HMMPfam_Na_trans_assoc,HMMPfam_IQ	p.T1131	ENST00000333535.4	37	c.3393	CCDS46796.1	3																																																																																			-	HMMPfam_Na_trans_assoc,superfamily_Voltage-gated potassium channels		0.617	SCN5A-014	KNOWN	basic|CCDS	protein_coding	SCN5A	protein_coding	OTTHUMT00000377958.1	G	NM_198056		38593274	-1	no_errors	NM_001099404	genbank	human	reviewed	54_36p	silent	SNP	0.004	A
SNAP23	8773	genome.wustl.edu	37	15	42807479	42807479	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1768-01A-01W-0633-09	TCGA-29-1768-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bde7b115-28f2-4475-862b-d07187de8cb5	7165cabf-882f-4999-a7ff-c14a275f0670	g.chr15:42807479G>A	ENST00000249647.3	+	5	661	c.193G>A	c.(193-195)Gac>Aac	p.D65N	SNAP23_ENST00000349777.1_Missense_Mutation_p.D65N|SNAP23_ENST00000564153.1_Missense_Mutation_p.D65N|SNAP23_ENST00000397138.1_Missense_Mutation_p.D65N|SNAP23_ENST00000567094.1_Missense_Mutation_p.D65N	NM_003825.3	NP_003816.2	O00161	SNP23_HUMAN	synaptosomal-associated protein, 23kDa	65	t-SNARE coiled-coil homology 1. {ECO:0000255|PROSITE-ProRule:PRU00202}.				exocytosis (GO:0006887)|membrane fusion (GO:0061025)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|vesicle targeting (GO:0006903)	azurophil granule (GO:0042582)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|specific granule (GO:0042581)|synapse (GO:0045202)				large_intestine(1)|lung(1)	2		all_cancers(109;7.14e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;1.18e-08)|all_lung(180;4.2e-08)|Melanoma(134;0.0179)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;2.62e-06)		AATAAATAAGGACATGAGAGA	0.378																																																0			15											129.0	125.0	126.0					15																	42807479		2203	4299	6502	40594771	SO:0001583	missense	8773			Y09567	CCDS10087.1, CCDS10088.1	15q14	2004-01-19	2002-08-29		ENSG00000092531	ENSG00000092531			11131	protein-coding gene	gene with protein product		602534	"""synaptosomal-associated protein, 23kD"""			9070898, 8663154	Standard	NM_003825		Approved	SNAP23A, SNAP23B, HsT17016	uc001zpz.2	O00161	OTTHUMG00000130625	ENST00000249647.3:c.193G>A	15.37:g.42807479G>A	ENSP00000249647:p.Asp65Asn		40594771	O00162|Q13602|Q6IAE3	Missense_Mutation	SNP	HMMSmart_SM00397,HMMPfam_SNAP-25,HMMPfam_SNARE	p.D65N	ENST00000249647.3	37	c.193	CCDS10087.1	15	.	.	.	.	.	.	.	.	.	.	G	33	5.230101	0.95207	.	.	ENSG00000092531	ENST00000249647;ENST00000349777;ENST00000397138	T;T;T	0.46451	0.87;0.87;0.87	5.87	5.87	0.94306	Target SNARE coiled-coil domain (2);	0.000000	0.85682	D	0.000000	T	0.64778	0.2629	M	0.89414	3.03	0.80722	D	1	P;D	0.56035	0.602;0.974	B;P	0.51701	0.259;0.677	T	0.71961	-0.4434	10	0.87932	D	0	.	19.8008	0.96506	0.0:0.0:1.0:0.0	.	65;65	O00161-2;O00161	.;SNP23_HUMAN	N	65	ENSP00000249647:D65N;ENSP00000207062:D65N;ENSP00000380327:D65N	ENSP00000249647:D65N	D	+	1	0	SNAP23	40594771	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.548000	0.98103	2.780000	0.95670	0.655000	0.94253	GAC	-	HMMSmart_SM00397		0.378	SNAP23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNAP23	protein_coding	OTTHUMT00000253111.4	G	NM_003825		40594771	+1	no_errors	NM_003825	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
TUBGCP4	27229	genome.wustl.edu	37	15	43669242	43669242	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1768-01A-01W-0633-09	TCGA-29-1768-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bde7b115-28f2-4475-862b-d07187de8cb5	7165cabf-882f-4999-a7ff-c14a275f0670	g.chr15:43669242C>G	ENST00000260383.7	+	4	615	c.361C>G	c.(361-363)Cat>Gat	p.H121D	TUBGCP4_ENST00000399460.3_5'UTR|TUBGCP4_ENST00000564079.1_Missense_Mutation_p.H121D			Q9UGJ1	GCP4_HUMAN	tubulin, gamma complex associated protein 4	121					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|protein complex assembly (GO:0006461)	centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|spindle pole (GO:0000922)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;3.53e-07)		CTCCATATCACATGTCAACTA	0.358																																																0			15											177.0	153.0	160.0					15																	43669242		1851	4107	5958	41456534	SO:0001583	missense	27229			AJ249677	CCDS42030.1, CCDS66745.1	15q15.3	2014-08-12			ENSG00000137822	ENSG00000137822			16691	protein-coding gene	gene with protein product		609610				10562286	Standard	NM_001286414		Approved	76P, FLJ14797	uc001zrn.3	Q9UGJ1	OTTHUMG00000176647	ENST00000260383.7:c.361C>G	15.37:g.43669242C>G	ENSP00000260383:p.His121Asp		41456534	B3KNK6|Q969X3|Q9NVF0	Missense_Mutation	SNP	HMMPfam_Spc97_Spc98	p.H121D	ENST00000260383.7	37	c.361		15	.	.	.	.	.	.	.	.	.	.	C	21.6	4.170760	0.78452	.	.	ENSG00000137822	ENST00000260383	T	0.07327	3.2	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.19485	0.0468	L	0.56769	1.78	0.80722	D	1	P;P	0.52316	0.952;0.94	P;P	0.52710	0.707;0.583	T	0.00133	-1.2010	10	0.39692	T	0.17	-18.202	18.052	0.89353	0.0:1.0:0.0:0.0	.	121;121	Q9UGJ1;Q9UGJ1-2	GCP4_HUMAN;.	D	121	ENSP00000260383:H121D	ENSP00000260383:H121D	H	+	1	0	TUBGCP4	41456534	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.889000	0.75627	2.666000	0.90696	0.655000	0.94253	CAT	-	HMMPfam_Spc97_Spc98		0.358	TUBGCP4-001	KNOWN	basic|appris_candidate_longest	protein_coding	TUBGCP4	protein_coding	OTTHUMT00000432970.1	C	NM_014444		41456534	+1	no_errors	NM_014444	genbank	human	provisional	54_36p	missense	SNP	1.000	G
NIM1K	167359	genome.wustl.edu	37	5	43277226	43277226	+	Silent	SNP	A	A	C			TCGA-29-1768-01A-01W-0633-09	TCGA-29-1768-10A-01W-0634-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bde7b115-28f2-4475-862b-d07187de8cb5	7165cabf-882f-4999-a7ff-c14a275f0670	g.chr5:43277226A>C	ENST00000512796.1	+	3	1859	c.360A>C	c.(358-360)cgA>cgC	p.R120R	NIM1_ENST00000326035.2_Silent_p.R120R			Q8IY84	NIM1_HUMAN		120	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein phosphorylation (GO:0006468)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)										TACTATCCCGAGAAATCTCCA	0.468																																																0			5											98.0	99.0	99.0					5																	43277226		2203	4300	6503	43312983	SO:0001819	synonymous_variant	167359																														ENST00000512796.1:c.360A>C	5.37:g.43277226A>C			43312983	B3KVM1	Silent	SNP	superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST	p.R120	ENST00000512796.1	37	c.360	CCDS3943.1	5																																																																																			-	superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase		0.468	NIM1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MGC42105	protein_coding	OTTHUMT00000368017.1	A			43312983	+1	no_errors	NM_153361	genbank	human	provisional	54_36p	silent	SNP	0.809	C
LRCH1	23143	genome.wustl.edu	37	13	47269108	47269108	+	Missense_Mutation	SNP	A	A	G			TCGA-29-1768-01A-01W-0633-09	TCGA-29-1768-10A-01W-0634-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bde7b115-28f2-4475-862b-d07187de8cb5	7165cabf-882f-4999-a7ff-c14a275f0670	g.chr13:47269108A>G	ENST00000389798.3	+	9	1398	c.1201A>G	c.(1201-1203)Act>Gct	p.T401A	LRCH1_ENST00000311191.6_Missense_Mutation_p.T401A|LRCH1_ENST00000389797.3_Missense_Mutation_p.T401A	NM_015116.2	NP_055931	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	401										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		AGACCAGTTTACTGATAGAGC	0.403																																																0			13											130.0	137.0	135.0					13																	47269108		2203	4300	6503	46167109	SO:0001583	missense	23143			AB023233	CCDS31972.1, CCDS53865.1, CCDS53866.1	13q14.11	2008-02-05	2004-05-27	2004-05-28	ENSG00000136141	ENSG00000136141			20309	protein-coding gene	gene with protein product		610368	"""calponin homology (CH) domain containing 1"""	CHDC1		10231032	Standard	NM_015116		Approved	KIAA1016	uc001vbk.3	Q9Y2L9	OTTHUMG00000016877	ENST00000389798.3:c.1201A>G	13.37:g.47269108A>G	ENSP00000374448:p.Thr401Ala		46167109	B7ZLL5|F8W6F0|Q17R43|Q2KHR1|Q5TBU9|Q7Z5F6|Q7Z5F7	Missense_Mutation	SNP	superfamily_L domain-like,HMMSmart_SM00369,HMMPfam_LRR_1,HMMSmart_SM00364,PatternScan_PTS_HPR_SER,superfamily_Calponin-homology domain CH-domain,HMMPfam_CH,HMMSmart_SM00033	p.T401A	ENST00000389798.3	37	c.1201	CCDS31972.1	13	.	.	.	.	.	.	.	.	.	.	A	4.630	0.117181	0.08881	.	.	ENSG00000136141	ENST00000311191;ENST00000389798;ENST00000389797	T;T;T	0.51817	0.69;0.74;0.71	5.38	0.197	0.15164	.	1.221250	0.06126	N	0.669762	T	0.21427	0.0516	N	0.12182	0.205	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.001;0.001;0.0	T	0.15838	-1.0423	10	0.06494	T	0.89	-0.3336	0.3467	0.00342	0.3888:0.1732:0.2428:0.1951	.	401;401;401;401	Q17R43;Q9Y2L9-2;F8W6F0;Q9Y2L9	.;.;.;LRCH1_HUMAN	A	401	ENSP00000308493:T401A;ENSP00000374448:T401A;ENSP00000374447:T401A	ENSP00000308493:T401A	T	+	1	0	LRCH1	46167109	0.263000	0.24083	0.001000	0.08648	0.954000	0.61252	0.776000	0.26704	-0.110000	0.12022	0.528000	0.53228	ACT	-	NULL		0.403	LRCH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LRCH1	protein_coding	OTTHUMT00000044824.2	A	NM_015116		46167109	+1	no_errors	NM_015116	genbank	human	provisional	54_36p	missense	SNP	0.022	G
NFXL1	152518	genome.wustl.edu	37	4	47905265	47905265	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1768-01A-01W-0633-09	TCGA-29-1768-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bde7b115-28f2-4475-862b-d07187de8cb5	7165cabf-882f-4999-a7ff-c14a275f0670	g.chr4:47905265G>T	ENST00000507489.1	-	5	768	c.592C>A	c.(592-594)Ctt>Att	p.L198I	NFXL1_ENST00000381538.3_Missense_Mutation_p.L198I|NFXL1_ENST00000329043.3_Missense_Mutation_p.L198I	NM_001278624.1	NP_001265553.1	Q6ZNB6	NFXL1_HUMAN	nuclear transcription factor, X-box binding-like 1	198						integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4)	27						GAAGATACAAGAAACTGGCTG	0.363																																																0			4											84.0	84.0	84.0					4																	47905265		2203	4300	6503	47600022	SO:0001583	missense	152518			AY134856	CCDS3478.2	4p12	2008-02-05			ENSG00000170448	ENSG00000170448			18726	protein-coding gene	gene with protein product	"""ovarian zinc finger protein"""						Standard	NM_152995		Approved	HOZFP	uc003gxp.3	Q6ZNB6	OTTHUMG00000128621	ENST00000507489.1:c.592C>A	4.37:g.47905265G>T	ENSP00000422037:p.Leu198Ile		47600022	B1Q2K1|Q86VG1|Q8WVH1	Missense_Mutation	SNP	superfamily_RING/U-box,PatternScan_ZF_PHD_1,HMMPfam_zf-NF-X1,HMMSmart_SM00438	p.L198I	ENST00000507489.1	37	c.592	CCDS3478.2	4	.	.	.	.	.	.	.	.	.	.	G	18.12	3.552830	0.65425	.	.	ENSG00000170448	ENST00000381538;ENST00000507489;ENST00000329043	T;T;T	0.28069	1.63;1.63;1.63	5.35	4.51	0.55191	Zinc finger, PHD-type, conserved site (1);Zinc finger, RING-type (1);	0.000000	0.85682	D	0.000000	T	0.32133	0.0819	M	0.65498	2.005	0.48975	D	0.999735	P	0.42785	0.79	B	0.42555	0.391	T	0.08066	-1.0740	10	0.16420	T	0.52	-13.6592	10.7599	0.46258	0.1514:0.0:0.8486:0.0	.	198	Q6ZNB6	NFXL1_HUMAN	I	198	ENSP00000370949:L198I;ENSP00000422037:L198I;ENSP00000333113:L198I	ENSP00000333113:L198I	L	-	1	0	NFXL1	47600022	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.443000	0.59994	1.255000	0.44051	0.555000	0.69702	CTT	-	superfamily_RING/U-box,PatternScan_ZF_PHD_1		0.363	NFXL1-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NFXL1	protein_coding	OTTHUMT00000361636.1	G	NM_152995		47600022	-1	no_errors	NM_152995	genbank	human	validated	54_36p	missense	SNP	1.000	T
TTLL8	164714	genome.wustl.edu	37	22	50488547	50488547	+	Missense_Mutation	SNP	G	G	A	rs117334902	byFrequency	TCGA-29-1768-01A-01W-0633-09	TCGA-29-1768-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bde7b115-28f2-4475-862b-d07187de8cb5	7165cabf-882f-4999-a7ff-c14a275f0670	g.chr22:50488547G>A	ENST00000266182.6	-	2	180	c.181C>T	c.(181-183)Cgg>Tgg	p.R61W	TTLL8_ENST00000477219.1_5'UTR|TTLL8_ENST00000440475.1_Missense_Mutation_p.R61W			A6PVC2	TTLL8_HUMAN	tubulin tyrosine ligase-like family, member 8	97					cilium assembly (GO:0042384)|protein polyglycylation (GO:0018094)	axoneme (GO:0005930)|cilium (GO:0005929)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	protein-glycine ligase activity (GO:0070735)|protein-glycine ligase activity, initiating (GO:0070736)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)		CCATTGACCCGGGCGCCTTCA	0.642													G|||	81	0.0161741	0.0008	0.0115	5008	,	,		15129	0.003		0.0427	False		,,,				2504	0.0266															0			22						G	TRP/ARG	32,4210		1,30,2090	42.0	47.0	45.0		289	1.6	0.0	22	dbSNP_132	45	371,8063		7,357,3853	no	missense	TTLL8	XM_003403494.1	101	8,387,5943	AA,AG,GG		4.3989,0.7544,3.1792	probably-damaging	97/841	50488547	403,12273	2121	4217	6338	48830674	SO:0001583	missense	164714					22q13.33	2013-02-14			ENSG00000138892	ENSG00000138892		"""Tubulin tyrosine ligase-like family"""	34000	protein-coding gene	gene with protein product						15890843	Standard	XM_003403745		Approved			A6PVC2	OTTHUMG00000150241	ENST00000266182.6:c.181C>T	22.37:g.50488547G>A	ENSP00000266182:p.Arg61Trp		48830674	B5MDV0	Missense_Mutation	SNP	HMMPfam_TTL,superfamily_Glutathione synthetase ATP-binding domain-like	p.R61W	ENST00000266182.6	37	c.181		22	37	0.01694139194139194	1	0.0020325203252032522	3	0.008287292817679558	0	0.0	33	0.04353562005277045	G	11.94	1.787767	0.31593	0.007544	0.043989	ENSG00000138892	ENST00000266182;ENST00000440475;ENST00000433387	T;T;T	0.22945	1.93;1.93;1.93	4.85	1.56	0.23342	.	3.365200	0.01025	N	0.004049	T	0.04092	0.0114	N	0.24115	0.695	0.09310	N	1	B	0.33904	0.431	B	0.29942	0.109	T	0.16453	-1.0402	10	0.66056	D	0.02	.	4.7678	0.13141	0.0:0.6253:0.1788:0.1958	.	61	B5MDV0	.	W	61;61;97	ENSP00000266182:R61W;ENSP00000387509:R61W;ENSP00000392252:R97W	ENSP00000266182:R61W	R	-	1	2	TTLL8	48830674	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	-0.066000	0.11598	0.453000	0.26858	-0.308000	0.09152	CGG	-	NULL		0.642	TTLL8-201	KNOWN	basic|appris_candidate_longest	protein_coding	TTLL8	protein_coding		G	NM_001080447		48830674	-1	no_errors	NM_001080447	genbank	human	provisional	54_36p	missense	SNP	0.000	A
DMXL2	23312	genome.wustl.edu	37	15	51741380	51741380	+	Missense_Mutation	SNP	A	A	C			TCGA-29-1768-01A-01W-0633-09	TCGA-29-1768-10A-01W-0634-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bde7b115-28f2-4475-862b-d07187de8cb5	7165cabf-882f-4999-a7ff-c14a275f0670	g.chr15:51741380A>C	ENST00000251076.5	-	43	9199	c.8912T>G	c.(8911-8913)tTg>tGg	p.L2971W	DMXL2_ENST00000543779.2_Missense_Mutation_p.L2972W|DMXL2_ENST00000449909.3_Missense_Mutation_p.L2335W|RP11-707P17.1_ENST00000561007.1_RNA	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2971						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		ATGGCCTGTCAATCTCCAAAC	0.413																																																0			15											83.0	78.0	79.0					15																	51741380		2196	4293	6489	49528672	SO:0001583	missense	23312			AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.8912T>G	15.37:g.51741380A>C	ENSP00000251076:p.Leu2971Trp		49528672	B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40	p.L2971W	ENST00000251076.5	37	c.8912	CCDS10141.1	15	.	.	.	.	.	.	.	.	.	.	A	20.5	3.998002	0.74818	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909;ENST00000436119	T;T;T	0.46451	0.87;0.87;0.87	5.6	5.6	0.85130	WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.64402	D	0.000001	T	0.65688	0.2715	M	0.76574	2.34	0.58432	D	0.999998	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.97110	0.999;0.993;0.997;1.0	T	0.69734	-0.5065	10	0.87932	D	0	.	16.0786	0.80985	1.0:0.0:0.0:0.0	.	2972;2335;2971;2972	F5GWF1;B2RTR3;Q8TDJ6;B7ZMH3	.;.;DMXL2_HUMAN;.	W	2971;2972;2335;537	ENSP00000251076:L2971W;ENSP00000441858:L2972W;ENSP00000400855:L2335W	ENSP00000251076:L2971W	L	-	2	0	DMXL2	49528672	1.000000	0.71417	0.992000	0.48379	0.929000	0.56500	8.859000	0.92264	2.254000	0.74563	0.460000	0.39030	TTG	-	superfamily_WD40 repeat-like		0.413	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	DMXL2	protein_coding	OTTHUMT00000254671.2	A	NM_015263		49528672	-1	no_errors	NM_015263	genbank	human	validated	54_36p	missense	SNP	1.000	C
KLHL31	401265	genome.wustl.edu	37	6	53518977	53518977	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1768-01A-01W-0633-09	TCGA-29-1768-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bde7b115-28f2-4475-862b-d07187de8cb5	7165cabf-882f-4999-a7ff-c14a275f0670	g.chr6:53518977C>T	ENST00000407079.1	-	1	1093	c.1094G>A	c.(1093-1095)gGa>gAa	p.G365E	KLHL31_ENST00000370905.3_Missense_Mutation_p.G365E			Q9H511	KLH31_HUMAN	kelch-like family member 31	365					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20	Lung NSC(77;0.0158)					ATAAAGAAATCCATCCATCAC	0.423																																																0			6											113.0	109.0	110.0					6																	53518977		2203	4300	6503	53626936	SO:0001583	missense	401265				CCDS34478.1	6p12.1	2013-09-27	2013-02-22	2007-01-09	ENSG00000124743	ENSG00000124743		"""Kelch-like"", ""BTB/POZ domain containing"""	21353	protein-coding gene	gene with protein product		610749	"""kelch repeat and BTB (POZ) domain containing 1"", ""kelch-like 31 (Drosophila)"""	KBTBD1			Standard	NM_001003760		Approved	bA345L23.2, BKLHD6	uc003pcb.4	Q9H511	OTTHUMG00000014882	ENST00000407079.1:c.1094G>A	6.37:g.53518977C>T	ENSP00000384644:p.Gly365Glu		53626936	A6N9J2|B2RP49	Missense_Mutation	SNP	superfamily_BTB/POZ_fold,HMMPfam_BTB,HMMSmart_BTB,HMMPfam_BACK,superfamily_Gal_oxid_central,HMMPfam_Kelch_2,HMMSmart_Kelch,HMMPfam_Kelch_1	p.G365E	ENST00000407079.1	37	c.1094	CCDS34478.1	6	.	.	.	.	.	.	.	.	.	.	C	20.5	4.000339	0.74818	.	.	ENSG00000124743	ENST00000370905;ENST00000407079	D;D	0.81996	-1.56;-1.56	5.39	5.39	0.77823	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	D	0.88317	0.6404	L	0.60845	1.875	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.87677	0.2545	10	0.49607	T	0.09	.	19.1841	0.93635	0.0:1.0:0.0:0.0	.	365	Q9H511	KLH31_HUMAN	E	365	ENSP00000359942:G365E;ENSP00000384644:G365E	ENSP00000359942:G365E	G	-	2	0	KLHL31	53626936	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.537000	0.85549	0.655000	0.94253	GGA	-	superfamily_Gal_oxid_central,HMMSmart_Kelch,HMMPfam_Kelch_1		0.423	KLHL31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL31	protein_coding	OTTHUMT00000040965.1	C	NM_001003760		53626936	-1	no_errors	NM_001003760	genbank	human	validated	54_36p	missense	SNP	1.000	T
OR5D14	219436	genome.wustl.edu	37	11	55563157	55563157	+	Silent	SNP	A	A	G			TCGA-29-1768-01A-01W-0633-09	TCGA-29-1768-10A-01W-0634-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bde7b115-28f2-4475-862b-d07187de8cb5	7165cabf-882f-4999-a7ff-c14a275f0670	g.chr11:55563157A>G	ENST00000335605.1	+	1	126	c.126A>G	c.(124-126)gtA>gtG	p.V42V		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	42						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				TCACAGTGGTAGGAAACCTTG	0.393																																																0			11											191.0	174.0	180.0					11																	55563157		2200	4296	6496	55319733	SO:0001819	synonymous_variant	219436			AB065779	CCDS31508.1	11q11	2012-08-09			ENSG00000186113	ENSG00000186113		"""GPCR / Class A : Olfactory receptors"""	15281	protein-coding gene	gene with protein product							Standard	NM_001004735		Approved		uc010rim.2	Q8NGL3	OTTHUMG00000166809	ENST00000335605.1:c.126A>G	11.37:g.55563157A>G			55319733	Q6IF69|Q6IFD4|Q96RB5	Silent	SNP	superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.V42	ENST00000335605.1	37	c.126	CCDS31508.1	11																																																																																			-	superfamily_SSF81321		0.393	OR5D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5D14	protein_coding	OTTHUMT00000391513.1	A	NM_001004735		55319733	+1	no_errors	NM_001004735	genbank	human	provisional	54_36p	silent	SNP	0.011	G
OR8K3	219473	genome.wustl.edu	37	11	56086270	56086270	+	Missense_Mutation	SNP	T	T	A			TCGA-29-1768-01A-01W-0633-09	TCGA-29-1768-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bde7b115-28f2-4475-862b-d07187de8cb5	7165cabf-882f-4999-a7ff-c14a275f0670	g.chr11:56086270T>A	ENST00000312711.1	+	1	488	c.488T>A	c.(487-489)aTt>aAt	p.I163N		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	163						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					ACCATAAAGATTTTTACTTTA	0.383																																																0			11											100.0	104.0	103.0					11																	56086270		2201	4296	6497	55842846	SO:0001583	missense	219473			AB065541	CCDS31527.1	11q11	2012-08-09			ENSG00000181689	ENSG00000181689		"""GPCR / Class A : Olfactory receptors"""	15313	protein-coding gene	gene with protein product							Standard	NM_001005202		Approved		uc010rjf.2	Q8NH51	OTTHUMG00000166855	ENST00000312711.1:c.488T>A	11.37:g.56086270T>A	ENSP00000323555:p.Ile163Asn		55842846	Q6IFC4	Missense_Mutation	SNP	PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321,HMMPfam_7tm_1	p.I163N	ENST00000312711.1	37	c.488	CCDS31527.1	11	.	.	.	.	.	.	.	.	.	.	T	5.751	0.322994	0.10900	.	.	ENSG00000181689	ENST00000312711	T	0.00179	8.61	4.56	4.56	0.56223	GPCR, rhodopsin-like superfamily (1);	0.205852	0.34067	N	0.004287	T	0.00356	0.0011	M	0.90650	3.135	0.09310	N	1	B	0.26081	0.141	B	0.33846	0.171	T	0.20605	-1.0270	10	0.87932	D	0	.	8.0276	0.30446	0.0:0.102:0.0:0.898	.	163	Q8NH51	OR8K3_HUMAN	N	163	ENSP00000323555:I163N	ENSP00000323555:I163N	I	+	2	0	OR8K3	55842846	0.000000	0.05858	0.066000	0.19879	0.023000	0.10783	-0.010000	0.12743	2.036000	0.60181	0.467000	0.42956	ATT	-	superfamily_SSF81321,HMMPfam_7tm_1		0.383	OR8K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8K3	protein_coding	OTTHUMT00000391602.1	T	NM_001005202		55842846	+1	no_errors	NM_001005202	genbank	human	provisional	54_36p	missense	SNP	0.005	A
AGAP2	116986	genome.wustl.edu	37	12	58123470	58123470	+	Nonsense_Mutation	SNP	T	T	A			TCGA-29-1768-01A-01W-0633-09	TCGA-29-1768-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bde7b115-28f2-4475-862b-d07187de8cb5	7165cabf-882f-4999-a7ff-c14a275f0670	g.chr12:58123470T>A	ENST00000547588.1	-	13	2508	c.2509A>T	c.(2509-2511)Aaa>Taa	p.K837*	AGAP2_ENST00000257897.3_Nonsense_Mutation_p.K501*	NM_001122772.2	NP_001116244.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	837	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				axon guidance (GO:0007411)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						GTTGTCAATTTTTTCCTCCTC	0.577																																																0			12											147.0	144.0	145.0					12																	58123470		2203	4300	6503	56409737	SO:0001587	stop_gained	116986			AF413077	CCDS8951.1, CCDS44932.1	12q13.2	2013-05-30	2008-09-22	2008-09-22	ENSG00000135439	ENSG00000135439		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16921	protein-coding gene	gene with protein product		605476	"""centaurin, gamma 1"""	CENTG1			Standard	NM_001122772		Approved		uc001spq.3	Q99490	OTTHUMG00000170285	ENST00000547588.1:c.2509A>T	12.37:g.58123470T>A	ENSP00000449241:p.Lys837*		56409737	A8K9F7|O00578|Q548E0|Q8IWU3	Nonsense_Mutation	SNP	superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00173,HMMSmart_SM00175,HMMPfam_Miro,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,superfamily_Pyk2-associated protein beta ARF-GAP domain,HMMPfam_ArfGap,HMMSmart_SM00105,superfamily_Ankyrin repeat,HMMPfam_Ank	p.K501*	ENST00000547588.1	37	c.1501	CCDS44932.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	36|36	5.924198|5.924198	0.97110|0.97110	.|.	.|.	ENSG00000135439|ENSG00000135439	ENST00000328568|ENST00000257897;ENST00000547588	T|.	0.39592|.	1.07|.	4.39|4.39	4.39|4.39	0.52855|0.52855	.|.	0.414700|0.414700	0.25540|0.25540	N|N	0.029968|0.029968	T|.	0.33147|.	0.0853|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.34079|.	-0.9843|.	6|.	0.87932|0.02654	D|T	0|1	.|.	13.0225|13.0225	0.58796|0.58796	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|.	.|.	.|.	I|X	700|501;837	ENSP00000328160:K700I|.	ENSP00000328160:K700I|ENSP00000257897:K501X	K|K	-|-	2|1	0|0	AGAP2|AGAP2	56409737|56409737	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.902000|0.902000	0.53008|0.53008	5.413000|5.413000	0.66399|0.66399	1.978000|1.978000	0.57642|0.57642	0.379000|0.379000	0.24179|0.24179	AAA|AAA	-	superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233		0.577	AGAP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AGAP2	protein_coding	OTTHUMT00000408367.1	T	NM_014770		56409737	-1	no_errors	NM_014770	genbank	human	validated	54_36p	nonsense	SNP	0.991	A
GCNT3	9245	genome.wustl.edu	37	15	59910793	59910793	+	Missense_Mutation	SNP	T	T	C			TCGA-29-1768-01A-01W-0633-09	TCGA-29-1768-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bde7b115-28f2-4475-862b-d07187de8cb5	7165cabf-882f-4999-a7ff-c14a275f0670	g.chr15:59910793T>C	ENST00000396065.1	+	3	804	c.356T>C	c.(355-357)tTc>tCc	p.F119S	GCNT3_ENST00000560585.1_Missense_Mutation_p.F119S	NM_004751.2	NP_004742.1	O95395	GCNT3_HUMAN	glucosaminyl (N-acetyl) transferase 3, mucin type	119					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|immunoglobulin production in mucosal tissue (GO:0002426)|intestinal absorption (GO:0050892)|kidney morphogenesis (GO:0060993)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|tissue morphogenesis (GO:0048729)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	acetylgalactosaminyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0047225)|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0003829)|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GAAAGGAAGTTCATACAGTTC	0.468																																																0			15											78.0	84.0	82.0					15																	59910793		2190	4290	6480	57698085	SO:0001583	missense	9245			AF102542	CCDS10172.1	15q22	2013-02-25			ENSG00000140297	ENSG00000140297	2.4.1.102, 2.4.1.150	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	4205	protein-coding gene	gene with protein product		606836				9915862, 9988682	Standard	NM_004751		Approved	C2GnT-M, C2/4GnT, C2GnT2	uc002age.3	O95395	OTTHUMG00000132726	ENST00000396065.1:c.356T>C	15.37:g.59910793T>C	ENSP00000379377:p.Phe119Ser		57698085		Missense_Mutation	SNP	HMMPfam_Branch	p.F119S	ENST00000396065.1	37	c.356	CCDS10172.1	15	.	.	.	.	.	.	.	.	.	.	T	17.80	3.479082	0.63849	.	.	ENSG00000140297	ENST00000396065	T	0.44881	0.91	6.16	6.16	0.99307	.	0.162303	0.56097	D	0.000035	T	0.57636	0.2067	M	0.76838	2.35	0.46416	D	0.999038	D	0.63880	0.993	P	0.56343	0.796	T	0.62699	-0.6799	10	0.59425	D	0.04	.	10.1723	0.42917	0.2437:0.0:0.0:0.7563	.	119	O95395	GCNT3_HUMAN	S	119	ENSP00000379377:F119S	ENSP00000379377:F119S	F	+	2	0	GCNT3	57698085	0.975000	0.34042	0.982000	0.44146	0.847000	0.48162	1.278000	0.33179	2.367000	0.80283	0.528000	0.53228	TTC	-	NULL		0.468	GCNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCNT3	protein_coding	OTTHUMT00000256068.1	T	NM_004751		57698085	+1	no_errors	NM_004751	genbank	human	reviewed	54_36p	missense	SNP	0.966	C
ZNF835	90485	genome.wustl.edu	37	19	57175120	57175120	+	Missense_Mutation	SNP	A	A	C			TCGA-29-1768-01A-01W-0633-09	TCGA-29-1768-10A-01W-0634-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bde7b115-28f2-4475-862b-d07187de8cb5	7165cabf-882f-4999-a7ff-c14a275f0670	g.chr19:57175120A>C	ENST00000537055.2	-	2	1678	c.1447T>G	c.(1447-1449)Ttc>Gtc	p.F483V		NM_001005850.2	NP_001005850.2	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835	483					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						GAGAAGCTGAAGGCCTTCCCG	0.642																																																0			19											124.0	138.0	133.0					19																	57175120		2203	4300	6503	61866932	SO:0001583	missense	90485			AK023017	CCDS56105.1	19q13.43	2013-01-08			ENSG00000127903	ENSG00000127903		"""Zinc fingers, C2H2-type"""	34332	protein-coding gene	gene with protein product							Standard	NM_001005850		Approved	BC37295_3	uc010ygn.2	Q9Y2P0		ENST00000537055.2:c.1447T>G	19.37:g.57175120A>C	ENSP00000444747:p.Phe483Val		61866932	B7Z5Y0|G3V1S0	Missense_Mutation	SNP	superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1	p.F505V	ENST00000537055.2	37	c.1513	CCDS56105.1	19	.	.	.	.	.	.	.	.	.	.	A	25.5	4.648137	0.87958	.	.	ENSG00000127903	ENST00000342088;ENST00000537055	T	0.46063	0.88	2.25	2.25	0.28309	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.64125	0.2570	M	0.87827	2.91	0.27565	N	0.950061	D	0.89917	1.0	D	0.97110	1.0	T	0.52689	-0.8542	9	0.87932	D	0	.	6.4526	0.21912	1.0:0.0:0.0:0.0	.	505	Q9Y2P0	ZN835_HUMAN	V	505;483	ENSP00000444747:F483V	ENSP00000341756:F505V	F	-	1	0	ZNF835	61866932	0.934000	0.31675	0.989000	0.46669	0.960000	0.62799	4.408000	0.59761	1.289000	0.44618	0.459000	0.35465	TTC	-	superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1		0.642	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF835	protein_coding	OTTHUMT00000459800.1	A	NM_001005850		61866932	-1	no_errors	NM_001005850	genbank	human	provisional	54_36p	missense	SNP	1.000	C
C19orf18	147685	genome.wustl.edu	37	19	58472902	58472902	+	Missense_Mutation	SNP	T	T	G			TCGA-29-1768-01A-01W-0633-09	TCGA-29-1768-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bde7b115-28f2-4475-862b-d07187de8cb5	7165cabf-882f-4999-a7ff-c14a275f0670	g.chr19:58472902T>G	ENST00000314391.3	-	5	490	c.389A>C	c.(388-390)gAg>gCg	p.E130A		NM_152474.4	NP_689687.1	Q8NEA5	CS018_HUMAN	chromosome 19 open reading frame 18	130						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)		TTGTCTTTCCTCAGCCTGTGC	0.433																																																0			19											126.0	115.0	119.0					19																	58472902		2203	4300	6503	63164714	SO:0001583	missense	147685			BC033933	CCDS12967.1	19q13.43	2013-03-11			ENSG00000177025	ENSG00000177025			28642	protein-coding gene	gene with protein product						12477932	Standard	NM_152474		Approved	MGC41906	uc002qqv.3	Q8NEA5	OTTHUMG00000183450	ENST00000314391.3:c.389A>C	19.37:g.58472902T>G	ENSP00000321519:p.Glu130Ala		63164714		Missense_Mutation	SNP	NULL	p.E130A	ENST00000314391.3	37	c.389	CCDS12967.1	19	.	.	.	.	.	.	.	.	.	.	T	13.18	2.160171	0.38119	.	.	ENSG00000177025	ENST00000314391	T	0.59364	0.27	4.14	4.14	0.48551	.	0.000000	0.46145	D	0.000313	T	0.63319	0.2501	L	0.34521	1.04	0.30823	N	0.737556	D	0.89917	1.0	D	0.91635	0.999	T	0.64537	-0.6384	10	0.87932	D	0	-44.2751	9.8381	0.40982	0.0:0.0:0.0:1.0	.	130	Q8NEA5	CS018_HUMAN	A	130	ENSP00000321519:E130A	ENSP00000321519:E130A	E	-	2	0	C19orf18	63164714	0.999000	0.42202	0.951000	0.38953	0.178000	0.23041	2.771000	0.47670	2.097000	0.63578	0.379000	0.24179	GAG	-	NULL		0.433	C19orf18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C19orf18	protein_coding	OTTHUMT00000466704.1	T	NM_152474		63164714	-1	no_errors	NM_152474	genbank	human	predicted	54_36p	missense	SNP	0.801	G
DPP8	54878	genome.wustl.edu	37	15	65759462	65759462	+	Nonsense_Mutation	SNP	C	C	A			TCGA-29-1768-01A-01W-0633-09	TCGA-29-1768-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bde7b115-28f2-4475-862b-d07187de8cb5	7165cabf-882f-4999-a7ff-c14a275f0670	g.chr15:65759462C>A	ENST00000341861.5	-	13	3264	c.1684G>T	c.(1684-1686)Gag>Tag	p.E562*	DPP8_ENST00000559233.1_Nonsense_Mutation_p.E562*|DPP8_ENST00000339244.5_Nonsense_Mutation_p.E389*|DPP8_ENST00000321147.6_Nonsense_Mutation_p.E562*|DPP8_ENST00000358939.4_Nonsense_Mutation_p.E546*|DPP8_ENST00000321118.7_Nonsense_Mutation_p.E562*|DPP8_ENST00000300141.6_Nonsense_Mutation_p.E546*	NM_197960.2	NP_932064.1	Q6V1X1	DPP8_HUMAN	dipeptidyl-peptidase 8	562					immune response (GO:0006955)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CTTGTCACCTCTCCAGGATTT	0.423																																																0			15											113.0	102.0	106.0					15																	65759462		2201	4299	6500	63546515	SO:0001587	stop_gained	54878			AF221634	CCDS10207.1, CCDS10208.1, CCDS10209.1, CCDS10210.1	15q22	2008-07-18	2006-01-12		ENSG00000074603	ENSG00000074603			16490	protein-coding gene	gene with protein product	"""dipeptidyl peptidase VIII"", ""dipeptidyl peptidase IV-related protein-1"", ""prolyl dipeptidase DPP8"""	606819	"""dipeptidylpeptidase 8"""			11012666	Standard	XM_005254500		Approved	DP8, DPRP1, MSTP141, FLJ14920, FLJ20283, MGC26191	uc002aox.3	Q6V1X1	OTTHUMG00000133150	ENST00000341861.5:c.1684G>T	15.37:g.65759462C>A	ENSP00000339208:p.Glu562*		63546515	Q7Z4C8|Q7Z4D3|Q7Z4E1|Q8IWG7|Q8NEM5|Q96JX1|Q9HBM2|Q9HBM3|Q9HBM4|Q9HBM5|Q9NXF4	Nonsense_Mutation	SNP	superfamily_Dipeptidyl peptidase IV/CD26 N-terminal domain,HMMPfam_DPPIV_N,superfamily_alpha/beta-Hydrolases,HMMPfam_Peptidase_S9	p.E562*	ENST00000341861.5	37	c.1684	CCDS10207.1	15	.	.	.	.	.	.	.	.	.	.	C	37	6.235726	0.97399	.	.	ENSG00000074603	ENST00000341861;ENST00000358939;ENST00000300141;ENST00000321147;ENST00000321118;ENST00000339244;ENST00000395652	.	.	.	5.56	4.59	0.56863	.	0.150864	0.45126	D	0.000396	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	-10.9419	15.8845	0.79232	0.0:0.8645:0.1355:0.0	.	.	.	.	X	562;546;546;562;562;389;562	.	ENSP00000300141:E546X	E	-	1	0	DPP8	63546515	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.854000	0.69503	2.602000	0.87976	0.467000	0.42956	GAG	-	superfamily_Dipeptidyl peptidase IV/CD26 N-terminal domain,HMMPfam_DPPIV_N		0.423	DPP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DPP8	protein_coding	OTTHUMT00000256847.1	C	NM_017743		63546515	-1	no_errors	NM_197960	genbank	human	reviewed	54_36p	nonsense	SNP	1.000	A
AL353626.1	0	genome.wustl.edu	37	9	66858595	66858595	+	RNA	SNP	A	A	G	rs375072517		TCGA-29-1768-01A-01W-0633-09	TCGA-29-1768-10A-01W-0634-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bde7b115-28f2-4475-862b-d07187de8cb5	7165cabf-882f-4999-a7ff-c14a275f0670	g.chr9:66858595A>G	ENST00000459322.1	-	0	17				AL353626.2_ENST00000578257.1_RNA																							tccctcacataggattcgagg	0.473																																																0			9																																								66598415			0																															9.37:g.66858595A>G			66598415		RNA	SNP	-	NULL	ENST00000459322.1	37	NULL		9																																																																																			-	-		0.473	AL353626.1-201	NOVEL	basic	miRNA	ENSG00000221127	miRNA		A			66598415	-1	no_errors	ENST00000408200	ensembl	human	novel	54_36p	rna	SNP	0.000	G
DYSF	8291	genome.wustl.edu	37	2	71909746	71909746	+	Missense_Mutation	SNP	T	T	G			TCGA-29-1768-01A-01W-0633-09	TCGA-29-1768-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bde7b115-28f2-4475-862b-d07187de8cb5	7165cabf-882f-4999-a7ff-c14a275f0670	g.chr2:71909746T>G	ENST00000258104.3	+	54	6420	c.6143T>G	c.(6142-6144)aTc>aGc	p.I2048S	DYSF_ENST00000409762.1_Missense_Mutation_p.I2065S|DYSF_ENST00000410041.1_Missense_Mutation_p.I2066S|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000394120.2_Missense_Mutation_p.I2049S|DYSF_ENST00000409366.1_Missense_Mutation_p.I2070S|DYSF_ENST00000410020.3_Missense_Mutation_p.I2087S|DYSF_ENST00000409744.1_Missense_Mutation_p.I2056S|DYSF_ENST00000409582.3_Missense_Mutation_p.I2086S|DYSF_ENST00000409651.1_Missense_Mutation_p.I2080S|DYSF_ENST00000413539.2_Missense_Mutation_p.I2079S|DYSF_ENST00000429174.2_Missense_Mutation_p.I2069S	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	2048					plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						TGGGCcatcatcctcttcatc	0.582																																																0			2											182.0	125.0	144.0					2																	71909746		2203	4300	6503	71763254	SO:0001583	missense	8291			AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.6143T>G	2.37:g.71909746T>G	ENSP00000258104:p.Ile2048Ser		71763254	A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	SNP	HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_C2,HMMPfam_FerI,HMMPfam_FerA,HMMPfam_FerB,HMMSmart_SM00693,HMMSmart_SM00694	p.I2048S	ENST00000258104.3	37	c.6143	CCDS1918.1	2	.	.	.	.	.	.	.	.	.	.	T	24.1	4.496946	0.85069	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	D;D;D;D;D;D;D;D;D;D;D	0.86097	-2.06;-2.07;-2.05;-2.05;-2.07;-2.06;-2.07;-2.05;-2.05;-2.05;-2.07	5.1	5.1	0.69264	.	0.221935	0.47852	D	0.000210	D	0.92004	0.7467	M	0.84156	2.68	0.50632	D	0.999889	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.71674	0.996;0.996;0.996;0.987;0.977;0.995;0.995;0.998;0.97;0.996;0.991;0.997;0.977;0.987;0.96	D;P;P;P;P;D;D;D;D;P;D;D;P;P;P	0.71184	0.939;0.907;0.907;0.907;0.907;0.972;0.972;0.972;0.92;0.907;0.944;0.956;0.907;0.907;0.809	D	0.93076	0.6487	10	0.87932	D	0	-24.6383	13.1302	0.59377	0.0:0.0:0.0:1.0	.	812;2080;2087;2070;2035;2066;2056;2065;2055;2079;2086;2069;2034;2049;2048	B7Z8G4;O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	S	2079;2065;2086;2069;2048;2080;2049;2056;2070;2087;2066	ENSP00000407046:I2079S;ENSP00000387137:I2065S;ENSP00000386547:I2086S;ENSP00000398305:I2069S;ENSP00000258104:I2048S;ENSP00000386683:I2080S;ENSP00000377678:I2049S;ENSP00000386285:I2056S;ENSP00000386512:I2070S;ENSP00000386881:I2087S;ENSP00000386617:I2066S	ENSP00000258104:I2048S	I	+	2	0	DYSF	71763254	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.950000	0.87804	2.034000	0.60081	0.533000	0.62120	ATC	-	NULL		0.582	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DYSF	protein_coding	OTTHUMT00000251970.3	T	NM_003494		71763254	+1	no_errors	NM_003494	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
PEAK1	79834	genome.wustl.edu	37	15	77425527	77425527	+	Silent	SNP	C	C	T			TCGA-29-1768-01A-01W-0633-09	TCGA-29-1768-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bde7b115-28f2-4475-862b-d07187de8cb5	7165cabf-882f-4999-a7ff-c14a275f0670	g.chr15:77425527C>T	ENST00000560626.2	-	6	4372	c.3897G>A	c.(3895-3897)aaG>aaA	p.K1299K	PEAK1_ENST00000312493.4_Silent_p.K1299K			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	1299					cell migration (GO:0016477)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										CAGCCAGTTTCTTCAAGGCAT	0.498																																																0			15											143.0	141.0	142.0					15																	77425527		1894	4111	6005	75212582	SO:0001819	synonymous_variant	79834				CCDS42062.1	15q24.3	2013-09-27			ENSG00000173517	ENSG00000173517			29431	protein-coding gene	gene with protein product		614248				16879967, 20534451	Standard	NM_024776		Approved	KIAA2002, sgk269		Q9H792	OTTHUMG00000172618	ENST00000560626.2:c.3897G>A	15.37:g.77425527C>T			75212582	Q6ZS78|Q8NAZ4|Q8NCM3|Q8TEG7	Silent	SNP	PatternScan_PROTEIN_KINASE_ATP,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_TYR	p.K1299	ENST00000560626.2	37	c.3897	CCDS42062.1	15																																																																																			-	NULL		0.498	PEAK1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SGK269	protein_coding	OTTHUMT00000419483.3	C			75212582	-1	no_errors	NM_024776	genbank	human	validated	54_36p	silent	SNP	1.000	T
PSMC1	5700	genome.wustl.edu	37	14	90726458	90726458	+	Splice_Site	SNP	G	G	A			TCGA-29-1768-01A-01W-0633-09	TCGA-29-1768-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bde7b115-28f2-4475-862b-d07187de8cb5	7165cabf-882f-4999-a7ff-c14a275f0670	g.chr14:90726458G>A	ENST00000261303.8	+	3	160		c.e3-1		PSMC1_ENST00000543772.2_Intron	NM_002802.2	NP_002793.2	P62191	PRS4_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 1						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|upper_aerodigestive_tract(2)	6		all_cancers(154;0.142)		COAD - Colon adenocarcinoma(157;0.21)		AACAACTCAAGGACAAGAAAA	0.368																																																0			14											52.0	59.0	56.0					14																	90726458		2203	4300	6503	89796211	SO:0001630	splice_region_variant	5700			L02426	CCDS32139.1	14q32.11	2010-04-21			ENSG00000100764	ENSG00000100764		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9547	protein-coding gene	gene with protein product		602706				9473509	Standard	NM_002802		Approved	S4, p56	uc001xyf.3	P62191		ENST00000261303.8:c.58-1G>A	14.37:g.90726458G>A			89796211	B4DR63|P49014|Q03527|Q6IAW0|Q6NW36|Q96AZ3	Splice_Site	SNP	-	e3-1	ENST00000261303.8	37	c.58-1	CCDS32139.1	14	.	.	.	.	.	.	.	.	.	.	G	19.35	3.810974	0.70797	.	.	ENSG00000100764	ENST00000261303	.	.	.	4.9	4.9	0.64082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6313	0.91360	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PSMC1	89796211	1.000000	0.71417	1.000000	0.80357	0.812000	0.45895	9.535000	0.98064	2.717000	0.92951	0.655000	0.94253	.	-	-		0.368	PSMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMC1	protein_coding	OTTHUMT00000411253.1	G	NM_002802	Intron	89796211	+1	no_errors	NM_002802	genbank	human	reviewed	54_36p	splice_site	SNP	1.000	A
TSPYL5	85453	genome.wustl.edu	37	8	98289401	98289401	+	Silent	SNP	A	A	G			TCGA-29-1768-01A-01W-0633-09	TCGA-29-1768-10A-01W-0634-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bde7b115-28f2-4475-862b-d07187de8cb5	7165cabf-882f-4999-a7ff-c14a275f0670	g.chr8:98289401A>G	ENST00000322128.3	-	1	775	c.672T>C	c.(670-672)ctT>ctC	p.L224L		NM_033512.2	NP_277047.2	Q86VY4	TSYL5_HUMAN	TSPY-like 5	224					cellular response to gamma radiation (GO:0071480)|nucleosome assembly (GO:0006334)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|regulation of growth (GO:0040008)	nucleus (GO:0005634)				cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	20	Breast(36;2.56e-06)					TGGAGAGCCGAAGGTAGGCCC	0.607																																																0			8											69.0	70.0	70.0					8																	98289401		2203	4300	6503	98358577	SO:0001819	synonymous_variant	85453			AB051537	CCDS34927.1	8q22.1	2011-05-24			ENSG00000180543	ENSG00000180543			29367	protein-coding gene	gene with protein product		614721				11214970	Standard	NM_033512		Approved	KIAA1750	uc003yhy.3	Q86VY4	OTTHUMG00000164857	ENST00000322128.3:c.672T>C	8.37:g.98289401A>G			98358577	B3KRF0|Q9C0B3	Silent	SNP	HMMPfam_NAP	p.L224	ENST00000322128.3	37	c.672	CCDS34927.1	8																																																																																			-	HMMPfam_NAP		0.607	TSPYL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPYL5	protein_coding	OTTHUMT00000380611.1	A	NM_033512		98358577	-1	no_errors	NM_033512	genbank	human	validated	54_36p	silent	SNP	0.115	G
ARPC1B	10095	genome.wustl.edu	37	7	98985783	98985783	+	Silent	SNP	G	G	T			TCGA-29-1768-01A-01W-0633-09	TCGA-29-1768-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bde7b115-28f2-4475-862b-d07187de8cb5	7165cabf-882f-4999-a7ff-c14a275f0670	g.chr7:98985783G>T	ENST00000451682.1	+	6	600	c.291G>T	c.(289-291)cgG>cgT	p.R97R	ARPC1B_ENST00000252725.5_Silent_p.R97R|ARPC1A_ENST00000432884.2_3'UTR|ARPC1B_ENST00000474880.1_3'UTR			O15143	ARC1B_HUMAN	actin related protein 2/3 complex, subunit 1B, 41kDa	97					Arp2/3 complex-mediated actin nucleation (GO:0034314)|cellular component movement (GO:0006928)	actin cytoskeleton (GO:0015629)|Arp2/3 protein complex (GO:0005885)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(2)|lung(1)	11	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			GGATCAACCGGGCTGCCCGCT	0.607																																																0			7											59.0	57.0	58.0					7																	98985783		2203	4300	6503	98823719	SO:0001819	synonymous_variant	10095			AF006084	CCDS5661.1	7q22.1	2013-03-14	2002-08-29		ENSG00000130429	ENSG00000130429		"""Actin related protein 2/3 complex subunits"", ""WD repeat domain containing"""	704	protein-coding gene	gene with protein product	"""ARP2/3 protein complex subunit p41"", ""actin related protein 2/3 complex, subunit 1A (41 kD)"""	604223	"""actin related protein 2/3 complex, subunit 1B (41 kD)"""			9230079, 9359840	Standard	NM_005720		Approved	ARC41, p40-ARC, p41-ARC	uc003upz.3	O15143	OTTHUMG00000154552	ENST00000451682.1:c.291G>T	7.37:g.98985783G>T			98823719	Q9BU00	Silent	SNP	superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40	p.R97	ENST00000451682.1	37	c.291	CCDS5661.1	7																																																																																			-	superfamily_WD40 repeat-like,HMMSmart_SM00320		0.607	ARPC1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ARPC1B	protein_coding	OTTHUMT00000335894.1	G	NM_005720		98823719	+1	no_errors	NM_005720	genbank	human	reviewed	54_36p	silent	SNP	0.945	T
TET2	54790	genome.wustl.edu	37	4	106157294	106157294	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1768-01A-01W-0633-09	TCGA-29-1768-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bde7b115-28f2-4475-862b-d07187de8cb5	7165cabf-882f-4999-a7ff-c14a275f0670	g.chr4:106157294C>A	ENST00000540549.1	+	3	3055	c.2195C>A	c.(2194-2196)cCa>cAa	p.P732Q	TET2_ENST00000305737.2_Missense_Mutation_p.P732Q|TET2_ENST00000380013.4_Missense_Mutation_p.P732Q|TET2_ENST00000545826.1_Missense_Mutation_p.P732Q|TET2_ENST00000513237.1_Missense_Mutation_p.P753Q|TET2_ENST00000413648.2_Missense_Mutation_p.P732Q|TET2_ENST00000394764.1_Missense_Mutation_p.P732Q			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	732	Gln-rich.				5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		CAAACACAACCATCCCAGAGT	0.418			"""Mis N, F"""		MDS																																		Rec	yes		4	4q24	54790	tet oncogene family member 2		L	0			4											78.0	82.0	80.0					4																	106157294		2203	4300	6503	106376743	SO:0001583	missense	54790			AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"""KIAA1546"", ""tet oncogene family member 2"""	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.2195C>A	4.37:g.106157294C>A	ENSP00000442788:p.Pro732Gln		106376743	B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Missense_Mutation	SNP	NULL	p.P732Q	ENST00000540549.1	37	c.2195	CCDS47120.1	4	.	.	.	.	.	.	.	.	.	.	C	8.639	0.895487	0.17613	.	.	ENSG00000168769	ENST00000305737;ENST00000540549;ENST00000545826;ENST00000513237;ENST00000380013;ENST00000394764;ENST00000413648	T;T;T;T;T;T;T	0.03580	3.89;4.52;3.88;4.52;4.52;3.89;3.89	5.81	1.44	0.22558	.	7.745160	0.00465	N	0.000101	T	0.03520	0.0101	N	0.19112	0.55	0.09310	N	1	P;P;P	0.44946	0.641;0.641;0.846	B;B;B	0.41813	0.202;0.202;0.367	T	0.43653	-0.9378	10	0.11485	T	0.65	.	7.7467	0.28873	0.0:0.4657:0.0:0.5343	.	753;732;732	E7EQS8;Q6N021;Q6N021-2	.;TET2_HUMAN;.	Q	732;732;732;753;732;732;732	ENSP00000306705:P732Q;ENSP00000442788:P732Q;ENSP00000442867:P732Q;ENSP00000425443:P753Q;ENSP00000369351:P732Q;ENSP00000378245:P732Q;ENSP00000391448:P732Q	ENSP00000265149:P732Q	P	+	2	0	TET2	106376743	0.000000	0.05858	0.026000	0.17262	0.243000	0.25628	0.169000	0.16641	0.333000	0.23563	-0.345000	0.07892	CCA	-	NULL		0.418	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	TET2	protein_coding	OTTHUMT00000253952.2	C	NM_017628		106376743	+1	no_errors	NM_017628	genbank	human	validated	54_36p	missense	SNP	0.000	A
MYO16	23026	genome.wustl.edu	37	13	109610111	109610111	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1768-01A-01W-0633-09	TCGA-29-1768-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bde7b115-28f2-4475-862b-d07187de8cb5	7165cabf-882f-4999-a7ff-c14a275f0670	g.chr13:109610111G>C	ENST00000357550.2	+	16	1976	c.1935G>C	c.(1933-1935)ttG>ttC	p.L645F	MYO16_ENST00000251041.5_Missense_Mutation_p.L645F|MYO16_ENST00000356711.2_Missense_Mutation_p.L645F|MYO16_ENST00000457511.2_Missense_Mutation_p.L157F	NM_001198950.1	NP_001185879.1			myosin XVI											NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TGGCTGTTTTGAAACGAGCCC	0.418																																																0			13											131.0	109.0	117.0					13																	109610111		2203	4300	6503	108408112	SO:0001583	missense	23026				CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"""Myosins / Myosin superfamily : Class XVI"", ""Ankyrin repeat domain containing"""	29822	protein-coding gene	gene with protein product	"""neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3"", ""protein phosphatase 1, regulatory subunit 107"""	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.1935G>C	13.37:g.109610111G>C	ENSP00000350160:p.Leu645Phe		108408112		Missense_Mutation	SNP	superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00242,HMMPfam_Myosin_head,HMMPfam_IQ	p.L645F	ENST00000357550.2	37	c.1935	CCDS32008.1	13	.	.	.	.	.	.	.	.	.	.	G	17.56	3.421052	0.62622	.	.	ENSG00000041515	ENST00000356711;ENST00000397258;ENST00000357550;ENST00000251041;ENST00000375857;ENST00000457511	D;D;D;D	0.87029	-2.2;-2.2;-2.2;-2.2	5.22	4.36	0.52297	Myosin head, motor domain (2);	0.000000	0.32093	U	0.006591	D	0.92818	0.7716	M	0.84846	2.72	0.50813	D	0.999899	P;P;D	0.76494	0.909;0.831;0.999	B;B;D	0.72075	0.425;0.401;0.976	D	0.92825	0.6275	9	.	.	.	.	10.7253	0.46064	0.1491:0.0:0.8509:0.0	.	157;645;645	F8W883;Q9Y6X6-2;Q9Y6X6	.;.;MYO16_HUMAN	F	645;645;645;645;433;157	ENSP00000349145:L645F;ENSP00000350160:L645F;ENSP00000251041:L645F;ENSP00000401633:L157F	.	L	+	3	2	MYO16	108408112	1.000000	0.71417	0.987000	0.45799	0.896000	0.52359	1.282000	0.33226	2.442000	0.82660	0.655000	0.94253	TTG	-	superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00242,HMMPfam_Myosin_head		0.418	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO16	protein_coding	OTTHUMT00000045746.1	G	NM_015011		108408112	+1	no_errors	NM_015011	genbank	human	validated	54_36p	missense	SNP	0.995	C
GLI2	2736	genome.wustl.edu	37	2	121709000	121709000	+	Missense_Mutation	SNP	A	A	G			TCGA-29-1768-01A-01W-0633-09	TCGA-29-1768-10A-01W-0634-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bde7b115-28f2-4475-862b-d07187de8cb5	7165cabf-882f-4999-a7ff-c14a275f0670	g.chr2:121709000A>G	ENST00000452319.1	+	4	496	c.436A>G	c.(436-438)Agg>Ggg	p.R146G	GLI2_ENST00000314490.11_5'UTR|GLI2_ENST00000361492.4_Missense_Mutation_p.R146G|GLI2_ENST00000435313.2_3'UTR					GLI family zinc finger 2											NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CTCTGCAGCCAGGGGCCTCAG	0.662																																																0			2											37.0	38.0	38.0					2																	121709000		2203	4300	6503	121425470	SO:0001583	missense	2736				CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"""Zinc fingers, C2H2-type"""	4318	protein-coding gene	gene with protein product	"""tax-responsive element-2 holding protein"", ""tax helper protein 1"", ""tax helper protein 2"""	165230	"""GLI-Kruppel family member GLI2"", ""glioma-associated oncogene family zinc finger 2"""			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.436A>G	2.37:g.121709000A>G	ENSP00000390436:p.Arg146Gly		121425470		Missense_Mutation	SNP	superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1	p.R146G	ENST00000452319.1	37	c.436	CCDS33283.1	2	.	.	.	.	.	.	.	.	.	.	A	20.3	3.959902	0.74016	.	.	ENSG00000074047	ENST00000452319;ENST00000361492	T;T	0.52057	0.68;0.68	5.18	1.83	0.25207	.	0.000000	0.85682	D	0.000000	T	0.68622	0.3021	M	0.80746	2.51	0.80722	D	1	D;D;D	0.89917	1.0;0.993;0.999	D;D;D	0.91635	0.999;0.977;0.991	T	0.71797	-0.4484	10	0.56958	D	0.05	.	15.2469	0.73511	0.4464:0.5536:0.0:0.0	.	146;146;146	B4DT63;P10070;Q0VGA0	.;GLI2_HUMAN;.	G	146	ENSP00000390436:R146G;ENSP00000354586:R146G	ENSP00000354586:R146G	R	+	1	2	GLI2	121425470	0.998000	0.40836	0.995000	0.50966	0.882000	0.50991	0.818000	0.27295	0.122000	0.18314	-0.501000	0.04562	AGG	-	NULL		0.662	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	GLI2	protein_coding	OTTHUMT00000332293.3	A	NM_005270		121425470	+1	no_errors	NM_005270	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
SMARCA1	6594	genome.wustl.edu	37	X	128624125	128624125	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1768-01A-01W-0633-09	TCGA-29-1768-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bde7b115-28f2-4475-862b-d07187de8cb5	7165cabf-882f-4999-a7ff-c14a275f0670	g.chrX:128624125G>C	ENST00000371122.4	-	15	1989	c.1860C>G	c.(1858-1860)ttC>ttG	p.F620L	SMARCA1_ENST00000371121.3_Missense_Mutation_p.F608L|SMARCA1_ENST00000371123.1_Missense_Mutation_p.F608L	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	620	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|DNA strand renaturation (GO:0000733)|neuron differentiation (GO:0030182)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)	CERF complex (GO:0090537)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NURF complex (GO:0016589)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						TGATGAGACGGAATACACGTA	0.363																																																0			X											144.0	119.0	127.0					X																	128624125		2203	4300	6503	128451806	SO:0001583	missense	6594			M88163	CCDS14612.1, CCDS76018.1, CCDS76019.1	Xq25	2008-02-05			ENSG00000102038	ENSG00000102038			11097	protein-coding gene	gene with protein product		300012		SNF2L1, SNF2L		1408766, 14609955	Standard	XM_005262461		Approved	SNF2LB, NURF140, ISWI, SWI	uc004eun.4	P28370	OTTHUMG00000022370	ENST00000371122.4:c.1860C>G	X.37:g.128624125G>C	ENSP00000360163:p.Phe620Leu		128451806	Q5JV41|Q5JV42	Missense_Mutation	SNP	superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00487,HMMPfam_SNF2_N,HMMSmart_SM00490,HMMPfam_Helicase_C,HMMPfam_HAND,superfamily_HAND domain of the nucleosome remodeling ATPase ISWI,HMMSmart_SM00717,superfamily_Homeodomain-like,HMMPfam_SLIDE	p.F620L	ENST00000371122.4	37	c.1860	CCDS14612.1	X	.	.	.	.	.	.	.	.	.	.	G	20.4	3.979445	0.74360	.	.	ENSG00000102038	ENST00000371121;ENST00000371123;ENST00000371122;ENST00000450039	T;T;T;T	0.74526	-0.85;-0.85;-0.85;-0.85	5.38	1.54	0.23209	Helicase, C-terminal (1);	0.000000	0.64402	D	0.000001	T	0.73908	0.3647	N	0.21194	0.64	0.51482	D	0.999924	D;D;D;D	0.69078	0.995;0.995;0.997;0.995	D;D;D;D	0.70935	0.936;0.936;0.971;0.913	T	0.72398	-0.4306	10	0.87932	D	0	-9.4728	9.9267	0.41496	0.3697:0.0:0.6303:0.0	.	599;620;608;620	E9PCY3;B7ZLQ5;P28370-2;P28370	.;.;.;SMCA1_HUMAN	L	608;608;620;599	ENSP00000360162:F608L;ENSP00000360164:F608L;ENSP00000360163:F620L;ENSP00000404275:F599L	ENSP00000360162:F608L	F	-	3	2	SMARCA1	128451806	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	1.087000	0.30865	-0.054000	0.13266	0.523000	0.50628	TTC	-	superfamily_P-loop containing nucleoside triphosphate hydrolases		0.363	SMARCA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SMARCA1	protein_coding	OTTHUMT00000058206.1	G	NM_003069		128451806	-1	no_errors	NM_003069	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
BCORL1	63035	genome.wustl.edu	37	X	129147048	129147048	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1768-01A-01W-0633-09	TCGA-29-1768-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bde7b115-28f2-4475-862b-d07187de8cb5	7165cabf-882f-4999-a7ff-c14a275f0670	g.chrX:129147048C>G	ENST00000218147.7	+	4	497	c.300C>G	c.(298-300)gaC>gaG	p.D100E	BCORL1_ENST00000303743.5_Missense_Mutation_p.D100E|BCORL1_ENST00000540052.1_Missense_Mutation_p.D100E|BCORL1_ENST00000359304.2_Missense_Mutation_p.D100E			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	100					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						CAAAAATGGACTACGCTGGGA	0.612																																																0			X											44.0	41.0	42.0					X																	129147048		2201	4298	6499	128974729	SO:0001583	missense	63035			AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"""Ankyrin repeat domain containing"""	25657	protein-coding gene	gene with protein product		300688	"""chromosome X open reading frame 10"", ""BCL6 co-repressor-like 1"""	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.300C>G	X.37:g.129147048C>G	ENSP00000218147:p.Asp100Glu		128974729	B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Missense_Mutation	SNP	superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank	p.D100E	ENST00000218147.7	37	c.300	CCDS14616.1	X	.	.	.	.	.	.	.	.	.	.	C	15.15	2.749390	0.49257	.	.	ENSG00000085185	ENST00000218147;ENST00000303743;ENST00000359304;ENST00000540052	T;T;T;T	0.47528	0.86;1.23;0.84;0.86	5.28	5.28	0.74379	.	0.000000	0.37348	N	0.002126	T	0.27594	0.0678	N	0.19112	0.55	0.25242	N	0.989742	P;B	0.35745	0.518;0.056	B;B	0.33339	0.162;0.01	T	0.22382	-1.0218	10	0.02654	T	1	-18.0445	12.9649	0.58478	0.0:0.8288:0.1712:0.0	.	100;100	Q5H9F3-2;Q5H9F3	.;BCORL_HUMAN	E	100	ENSP00000218147:D100E;ENSP00000307541:D100E;ENSP00000352253:D100E;ENSP00000437775:D100E	ENSP00000218147:D100E	D	+	3	2	BCORL1	128974729	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	3.344000	0.52174	2.203000	0.70933	0.529000	0.55759	GAC	-	NULL		0.612	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCORL1	protein_coding	OTTHUMT00000058223.1	C	NM_021946		128974729	+1	no_errors	NM_021946	genbank	human	validated	54_36p	missense	SNP	1.000	G
TXLNB	167838	genome.wustl.edu	37	6	139609740	139609740	+	Missense_Mutation	SNP	A	A	T			TCGA-29-1768-01A-01W-0633-09	TCGA-29-1768-10A-01W-0634-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bde7b115-28f2-4475-862b-d07187de8cb5	7165cabf-882f-4999-a7ff-c14a275f0670	g.chr6:139609740A>T	ENST00000358430.3	-	2	529	c.297T>A	c.(295-297)gaT>gaA	p.D99E	RP11-445F6.2_ENST00000440518.1_RNA|RP11-445F6.2_ENST00000441249.1_RNA	NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta	99						cytoplasm (GO:0005737)				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		CACAGTCCCCATCCTCGTTGT	0.532																																																0			6											115.0	111.0	113.0					6																	139609740		2203	4300	6503	139651433	SO:0001583	missense	167838				CCDS34545.1	6q23.3	2008-02-05	2005-07-29	2005-07-29	ENSG00000164440	ENSG00000164440			21617	protein-coding gene	gene with protein product		611438	"""chromosome 6 open reading frame 198"""	C6orf198		15184072	Standard	NM_153235		Approved	DKFZp451A175, MDP77, dJ522B19.2	uc021zfy.1	Q8N3L3	OTTHUMG00000015688	ENST00000358430.3:c.297T>A	6.37:g.139609740A>T	ENSP00000351206:p.Asp99Glu		139651433	Q5VTF3|Q76L25|Q86T52|Q8N3S2	Missense_Mutation	SNP	HMMPfam_Taxilin	p.D99E	ENST00000358430.3	37	c.297	CCDS34545.1	6	.	.	.	.	.	.	.	.	.	.	A	9.293	1.051040	0.19827	.	.	ENSG00000164440	ENST00000358430	T	0.16457	2.34	6.07	-12.1	0.00011	.	0.224693	0.44688	N	0.000437	T	0.02494	0.0076	L	0.43923	1.385	0.20074	N	0.999934	P	0.34743	0.466	B	0.33846	0.171	T	0.04281	-1.0963	9	.	.	.	-22.1616	7.3459	0.26664	0.3163:0.0701:0.4667:0.1469	.	99	Q8N3L3	TXLNB_HUMAN	E	99	ENSP00000351206:D99E	.	D	-	3	2	TXLNB	139651433	0.000000	0.05858	0.000000	0.03702	0.211000	0.24417	-1.126000	0.03254	-3.272000	0.00199	-0.297000	0.09499	GAT	-	NULL		0.532	TXLNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TXLNB	protein_coding	OTTHUMT00000042458.1	A	NM_153235		139651433	-1	no_errors	NM_153235	genbank	human	validated	54_36p	missense	SNP	0.147	T
DCHS2	54798	genome.wustl.edu	37	4	155241925	155241925	+	Missense_Mutation	SNP	C	C	G	rs80045965		TCGA-29-1768-01A-01W-0633-09	TCGA-29-1768-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bde7b115-28f2-4475-862b-d07187de8cb5	7165cabf-882f-4999-a7ff-c14a275f0670	g.chr4:155241925C>G	ENST00000357232.4	-	14	3260	c.3261G>C	c.(3259-3261)ttG>ttC	p.L1087F		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1087	Cadherin 9. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TTCTACTGTTCAAAAAACTGC	0.453																																																0			4											268.0	290.0	283.0					4																	155241925		2203	4300	6503	155461375	SO:0001583	missense	54798			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.3261G>C	4.37:g.155241925C>G	ENSP00000349768:p.Leu1087Phe		155461375	B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1	p.L1087F	ENST00000357232.4	37	c.3261	CCDS3785.1	4	.	.	.	.	.	.	.	.	.	.	C	13.86	2.362766	0.41902	.	.	ENSG00000197410	ENST00000357232	T	0.53640	0.61	5.59	2.51	0.30379	Cadherin (4);Cadherin-like (1);	0.266420	0.26304	N	0.025157	T	0.60314	0.2259	M	0.72479	2.2	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	T	0.56745	-0.7928	10	0.20519	T	0.43	.	9.1139	0.36746	0.0:0.6212:0.0:0.3788	.	1087	Q6V1P9	PCD23_HUMAN	F	1087	ENSP00000349768:L1087F	ENSP00000349768:L1087F	L	-	3	2	DCHS2	155461375	0.646000	0.27295	0.994000	0.49952	0.786000	0.44442	-0.164000	0.09983	0.728000	0.32382	0.563000	0.77884	TTG	-	superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112		0.453	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS2	protein_coding	OTTHUMT00000365281.2	C	NM_001142552		155461375	-1	no_errors	NM_017639	genbank	human	validated	54_36p	missense	SNP	1.000	G
LEKR1	389170	genome.wustl.edu	37	3	156763342	156763342	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1768-01A-01W-0633-09	TCGA-29-1768-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bde7b115-28f2-4475-862b-d07187de8cb5	7165cabf-882f-4999-a7ff-c14a275f0670	g.chr3:156763342G>C	ENST00000470811.1	+	14	2305	c.970G>C	c.(970-972)Gaa>Caa	p.E324Q	LEKR1_ENST00000356539.4_Missense_Mutation_p.E628Q			Q6ZMV7	LEKR1_HUMAN	leucine, glutamate and lysine rich 1	324										breast(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	11			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			ACTGAACTCTGAAAAAGGAAT	0.517																																																0			3											83.0	89.0	87.0					3																	156763342		2203	4300	6503	158246036	SO:0001583	missense	389170			AK131473	CCDS54660.1	3q25.31	2014-02-12	2008-02-21		ENSG00000197980	ENSG00000197980			33765	protein-coding gene	gene with protein product		613536					Standard	NM_001004316		Approved	FLJ16641	uc021xgh.1	Q6ZMV7	OTTHUMG00000160130	ENST00000470811.1:c.970G>C	3.37:g.156763342G>C	ENSP00000418214:p.Glu324Gln		158246036		Missense_Mutation	SNP	NULL	p.E324Q	ENST00000470811.1	37	c.970		3	.	.	.	.	.	.	.	.	.	.	G	13.93	2.383968	0.42308	.	.	ENSG00000178110	ENST00000470811;ENST00000356539	T;T	0.49139	0.8;0.79	4.94	4.94	0.65067	.	0.591675	0.15579	N	0.255013	T	0.51312	0.1667	L	0.47716	1.5	0.09310	N	1	D	0.54964	0.969	P	0.50754	0.649	T	0.45293	-0.9271	10	0.18276	T	0.48	-4.3047	16.9551	0.86257	0.0:0.0:1.0:0.0	.	324	Q6ZMV7	LEKR1_HUMAN	Q	324;628	ENSP00000418214:E324Q;ENSP00000348936:E628Q	ENSP00000348936:E628Q	E	+	1	0	LEKR1	158246036	0.593000	0.26840	0.006000	0.13384	0.402000	0.30811	3.615000	0.54167	2.276000	0.75962	0.655000	0.94253	GAA	-	NULL		0.517	LEKR1-010	KNOWN	upstream_ATG|basic	protein_coding	LEKR1	protein_coding	OTTHUMT00000351625.3	G	NM_001004316		158246036	+1	no_errors	NM_001004316	genbank	human	provisional	54_36p	missense	SNP	0.543	C
SEC16B	89866	genome.wustl.edu	37	1	177911038	177911038	+	Silent	SNP	G	G	T			TCGA-29-1768-01A-01W-0633-09	TCGA-29-1768-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bde7b115-28f2-4475-862b-d07187de8cb5	7165cabf-882f-4999-a7ff-c14a275f0670	g.chr1:177911038G>T	ENST00000308284.6	-	16	2108	c.2019C>A	c.(2017-2019)atC>atA	p.I673I	RP4-798P15.3_ENST00000354921.3_RNA	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	673					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|peroxisome fission (GO:0016559)|peroxisome organization (GO:0007031)|positive regulation of gene expression (GO:0010628)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|protein localization to endoplasmic reticulum (GO:0070972)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						GGCTCACCTTGATGAGTTCCA	0.478																																																0			1											106.0	102.0	103.0					1																	177911038		1913	4139	6052	176177661	SO:0001819	synonymous_variant	89866			AK090411	CCDS44281.1	1q25.2	2012-10-08	2007-06-20	2007-06-20	ENSG00000120341	ENSG00000120341			30301	protein-coding gene	gene with protein product	"""regucalcin gene promotor region related protein"""	612855	"""leucine zipper transcription regulator 2"""	LZTR2		11572484, 11605020	Standard	NM_033127		Approved	RGPR, PGPR-p117	uc001gli.1	Q96JE7	OTTHUMG00000167206	ENST00000308284.6:c.2019C>A	1.37:g.177911038G>T			176177661	A3EYF1|Q5HYF6|Q8N7D6|Q96GX6	Silent	SNP	PatternScan_PHOSPHOPANTETHEINE	p.I673	ENST00000308284.6	37	c.2019	CCDS44281.1	1																																																																																			-	PatternScan_PHOSPHOPANTETHEINE		0.478	SEC16B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC16B	protein_coding	OTTHUMT00000084773.16	G	NM_033127		176177661	-1	no_errors	NM_033127	genbank	human	validated	54_36p	silent	SNP	1.000	T
PDLIM3	27295	genome.wustl.edu	37	4	186427757	186427757	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1768-01A-01W-0633-09	TCGA-29-1768-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bde7b115-28f2-4475-862b-d07187de8cb5	7165cabf-882f-4999-a7ff-c14a275f0670	g.chr4:186427757G>T	ENST00000284770.5	-	6	785	c.712C>A	c.(712-714)Cac>Aac	p.H238N	PDLIM3_ENST00000284767.5_3'UTR|PDLIM3_ENST00000284771.6_Missense_Mutation_p.H190N	NM_014476.5	NP_055291.2	Q53GG5	PDLI3_HUMAN	PDZ and LIM domain 3	238					actin filament organization (GO:0007015)|heart development (GO:0007507)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	structural constituent of muscle (GO:0008307)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171)		CGATTGTCGTGGAGCATCCGG	0.652																																																0			4											69.0	61.0	64.0					4																	186427757		2203	4300	6503	186664751	SO:0001583	missense	27295			AF002280	CCDS3844.1, CCDS47172.1, CCDS75218.1, CCDS75219.1	4q35	2014-09-17			ENSG00000154553	ENSG00000154553			20767	protein-coding gene	gene with protein product		605889				10063829, 8828038	Standard	NM_014476		Approved	ALP	uc003ixw.4	Q53GG5	OTTHUMG00000160412	ENST00000284770.5:c.712C>A	4.37:g.186427757G>T	ENSP00000284770:p.His238Asn		186664751	B2R866|O43590|O60439|O60440|Q8N6Y6|Q9BVP4	Missense_Mutation	SNP	superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228,HMMSmart_SM00735,superfamily_Glucocorticoid receptor-like (DNA-binding domain),HMMSmart_SM00132,PatternScan_LIM_DOMAIN_1,HMMPfam_LIM	p.H238N	ENST00000284770.5	37	c.712	CCDS3844.1	4	.	.	.	.	.	.	.	.	.	.	G	20.8	4.051536	0.75960	.	.	ENSG00000154553	ENST00000284770;ENST00000284771	T;T	0.34859	1.34;2.16	5.96	5.96	0.96718	.	0.093805	0.85682	D	0.000000	T	0.45196	0.1330	M	0.68593	2.085	0.80722	D	1	B;B	0.25486	0.127;0.034	B;B	0.28916	0.096;0.044	T	0.37776	-0.9691	10	0.72032	D	0.01	-25.976	20.4008	0.98991	0.0:0.0:1.0:0.0	.	190;238	Q53GG5-2;Q53GG5	.;PDLI3_HUMAN	N	238;190	ENSP00000284770:H238N;ENSP00000284771:H190N	ENSP00000284770:H238N	H	-	1	0	PDLIM3	186664751	1.000000	0.71417	0.976000	0.42696	0.621000	0.37620	8.008000	0.88588	2.826000	0.97356	0.655000	0.94253	CAC	-	NULL		0.652	PDLIM3-001	KNOWN	basic|CCDS	protein_coding	PDLIM3	protein_coding	OTTHUMT00000360499.2	G	NM_014476		186664751	-1	no_errors	NM_014476	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
RGS2	5997	genome.wustl.edu	37	1	192780142	192780142	+	Silent	SNP	G	G	A			TCGA-29-1768-01A-01W-0633-09	TCGA-29-1768-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bde7b115-28f2-4475-862b-d07187de8cb5	7165cabf-882f-4999-a7ff-c14a275f0670	g.chr1:192780142G>A	ENST00000235382.5	+	4	337	c.306G>A	c.(304-306)aaG>aaA	p.K102K		NM_002923.3	NP_002914.1	P41220	RGS2_HUMAN	regulator of G-protein signaling 2	102	Necessary to inhibit protein synthesis.|RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				brown fat cell differentiation (GO:0050873)|cell cycle (GO:0007049)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phospholipase activity (GO:0010519)|positive regulation of cardiac muscle contraction (GO:0060452)|positive regulation of microtubule polymerization (GO:0031116)|regulation of adrenergic receptor signaling pathway (GO:0071877)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of translation (GO:0006417)|relaxation of cardiac muscle (GO:0055119)|relaxation of vascular smooth muscle (GO:0060087)|spermatogenesis (GO:0007283)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)			large_intestine(3)|lung(1)|urinary_tract(1)	5						CTTTTTTAAAGTCGGAATTCT	0.403																																					Pancreas(71;51 2183 4981)											0			1											105.0	110.0	108.0					1																	192780142		2203	4300	6503	191046765	SO:0001819	synonymous_variant	5997			L13463	CCDS1377.1	1q31	2014-06-19	2014-06-19		ENSG00000116741	ENSG00000116741		"""Regulators of G-protein signaling"", ""Endogenous ligands"""	9998	protein-coding gene	gene with protein product		600861	"""regulator of G-protein signalling 2, 24kD"", ""regulator of G-protein signalling 2, 24kDa"", ""regulator of G-protein signaling 2, 24kDa"""	G0S8		8179820	Standard	NM_002923		Approved		uc001gsl.3	P41220	OTTHUMG00000035600	ENST00000235382.5:c.306G>A	1.37:g.192780142G>A			191046765	Q6I9U5	Silent	SNP	superfamily_Regulat_G_prot_signal_superfam,HMMPfam_RGS,HMMSmart_RGS	p.K102	ENST00000235382.5	37	c.306	CCDS1377.1	1																																																																																			-	superfamily_Regulat_G_prot_signal_superfam,HMMPfam_RGS,HMMSmart_RGS		0.403	RGS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGS2	protein_coding	OTTHUMT00000086396.1	G	NM_002923		191046765	+1	no_errors	NM_002923	genbank	human	provisional	54_36p	silent	SNP	0.994	A
DNAH7	56171	genome.wustl.edu	37	2	196771432	196771432	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1768-01A-01W-0633-09	TCGA-29-1768-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bde7b115-28f2-4475-862b-d07187de8cb5	7165cabf-882f-4999-a7ff-c14a275f0670	g.chr2:196771432G>T	ENST00000312428.6	-	27	4386	c.4286C>A	c.(4285-4287)aCa>aAa	p.T1429K		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1429	AAA 1. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AGGGTTCATTGTTATAAAGAC	0.373																																																0			2											137.0	126.0	130.0					2																	196771432		1855	4109	5964	196479677	SO:0001583	missense	56171			AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.4286C>A	2.37:g.196771432G>T	ENSP00000311273:p.Thr1429Lys		196479677	B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	HMMPfam_DHC_N2,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_AAA_5,PatternScan_EF_HAND_1,HMMPfam_Dynein_heavy,PatternScan_ADH_SHORT	p.T1429K	ENST00000312428.6	37	c.4286	CCDS42794.1	2	.	.	.	.	.	.	.	.	.	.	G	26.8	4.768432	0.90020	.	.	ENSG00000118997	ENST00000312428	T	0.53206	0.63	4.95	4.95	0.65309	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.84009	0.5378	H	0.99870	4.87	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91802	0.5452	10	0.87932	D	0	.	17.9626	0.89090	0.0:0.0:1.0:0.0	.	1429	Q8WXX0	DYH7_HUMAN	K	1429	ENSP00000311273:T1429K	ENSP00000311273:T1429K	T	-	2	0	DNAH7	196479677	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.625000	0.98406	2.570000	0.86706	0.460000	0.39030	ACA	-	superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382		0.373	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH7	protein_coding	OTTHUMT00000335202.3	G	NM_018897		196479677	-1	no_errors	NM_018897	genbank	human	validated	54_36p	missense	SNP	0.998	T
Unknown	0	genome.wustl.edu	37	2	203066093	203066093	+	IGR	SNP	C	C	T			TCGA-29-1768-01A-01W-0633-09	TCGA-29-1768-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bde7b115-28f2-4475-862b-d07187de8cb5	7165cabf-882f-4999-a7ff-c14a275f0670	g.chr2:203066093C>T								AC079354.5 (21979 upstream) : SUMO1 (4809 downstream)																							ACAAAGGTGGCCTTGGTTCCT	0.478																																																0			2																																								202774338	SO:0001628	intergenic_variant	645805																															2.37:g.203066093C>T			202774338		RNA	SNP	-	NULL		37	NULL		2																																																																																			-	-	0	0.478					LOC645805			C			202774338	-1	pseudogene	XR_016981	genbank	human	model	54_36p	rna	SNP	0.056	T
Unknown	0	genome.wustl.edu	37	X	645488	645492	+	IGR	DEL	TTTCT	TTTCT	-			TCGA-29-1768-01A-01W-0633-09	TCGA-29-1768-10A-01W-0634-09	TTTCT	TTTCT					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bde7b115-28f2-4475-862b-d07187de8cb5	7165cabf-882f-4999-a7ff-c14a275f0670	g.chrX:645488_645492delTTTCT								SHOX (25342 upstream) : RP11-309M23.1 (305463 downstream)																							tttccttttctttcttttcttttct	0.376																																																0			X																																								565492	SO:0001628	intergenic_variant	0																															X.37:g.645498_645502delTTTCT			565488		Frame_Shift_Del	DEL	NULL	p.K158fs		37	c.477_473		X																																																																																			(deletion:cds_exon[565447,565827])	NULL	0	0.376					LOC100134324			TTTCT			565492	-1	no_start_codon:pseudogene:no_stop_codon	XM_001716092	genbank	human	model	54_36p	frame_shift_del	DEL	0.002:0.002:0.001:0.001:0.002	-
C1QBP	708	genome.wustl.edu	37	17	5334902	5334904	+	IGR	DEL	CCA	CCA	-	rs200865402	byFrequency	TCGA-29-1768-01A-01W-0633-09	TCGA-29-1768-10A-01W-0634-09	CCA	CCA					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bde7b115-28f2-4475-862b-d07187de8cb5	7165cabf-882f-4999-a7ff-c14a275f0670	g.chr17:5334902_5334904delCCA	ENST00000225698.4	-	0	1169				RPAIN_ENST00000327154.6_Intron|RPAIN_ENST00000381208.5_Intron|RPAIN_ENST00000381209.3_Intron|CTC-524C5.2_ENST00000575890.1_RNA|RPAIN_ENST00000536255.2_Intron	NM_001212.3	NP_001203.1	Q07021	C1QBP_HUMAN	complement component 1, q subcomponent binding protein						apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)|mature ribosome assembly (GO:0042256)|mRNA processing (GO:0006397)|negative regulation of defense response to virus (GO:0050687)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of MDA-5 signaling pathway (GO:0039534)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of mitochondrial translation (GO:0070131)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of trophoblast cell migration (GO:1901165)|regulation of complement activation (GO:0030449)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	adrenergic receptor binding (GO:0031690)|complement component C1q binding (GO:0001849)|hyaluronic acid binding (GO:0005540)|kininogen binding (GO:0030984)|mitochondrial ribosome binding (GO:0097177)|mRNA binding (GO:0003729)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			lung(2)|ovary(1)	3					Hyaluronan(DB08818)	TGCTCTAGTTCCACTAGACCTTT	0.419														72	0.014377	0.0038	0.0216	5008	,	,		20154	0.0		0.0219	False		,,,				2504	0.0307															0			17																																								5275628	SO:0001628	intergenic_variant	0			X75913	CCDS11071.1	17p13.3	2009-05-07				ENSG00000108561			1243	protein-coding gene	gene with protein product	"""C1q globular domain-binding protein"", ""hyaluronan-binding protein 1"", ""splicing factor SF2-associated protein"""	601269		HABP1		8567680, 8195709	Standard	NM_001212		Approved	gC1Q-R, gC1qR, p32, SF2p32	uc002gby.1	Q07021			17.37:g.5334902_5334904delCCA			5275626	Q2HXR8|Q9NNY8	In_Frame_Del	DEL	NULL	p.P161in_frame_del	ENST00000225698.4	37	c.481_483	CCDS11071.1	17																																																																																			(deletion:cds_exon[5275602,5275700])	NULL		0.419	C1QBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000215099	protein_coding	OTTHUMT00000439388.1	CCA	NM_001212		5275628	+1	no_errors	ENST00000399576	ensembl	human	known	54_36p	in_frame_del	DEL	0.087:0.107:0.107	-
LITAF	9516	genome.wustl.edu	37	16	11658459	11658460	+	Intron	INS	-	-	T	rs5815646|rs112147880|rs67871550	byFrequency	TCGA-29-1768-01A-01W-0633-09	TCGA-29-1768-10A-01W-0634-09	-	-					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bde7b115-28f2-4475-862b-d07187de8cb5	7165cabf-882f-4999-a7ff-c14a275f0670	g.chr16:11658459_11658460insT	ENST00000571688.1	-	2	226				LITAF_ENST00000574703.1_Intron|LITAF_ENST00000571976.1_Intron|LITAF_ENST00000571459.1_Intron|LITAF_ENST00000381810.3_Intron|LITAF_ENST00000570904.1_Intron|LITAF_ENST00000576036.1_Intron|LITAF_ENST00000572255.1_Intron|LITAF_ENST00000413364.2_Intron|LITAF_ENST00000574763.1_Intron|LITAF_ENST00000339430.5_Intron	NM_001136472.1	NP_001129944.1	Q99732	LITAF_HUMAN	lipopolysaccharide-induced TNF factor						aging (GO:0007568)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of cytokine production (GO:0001817)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)			endometrium(1)|large_intestine(1)|liver(1)|lung(3)|skin(1)	7						ggggagtgcaaggataagcctc	0.401													T|-|T|deletion	4171	0.832867	0.8525	0.8746	5008	,	,		17659	0.8562		0.8171	False		,,,				2504	0.7689															0			16																																								11565961	SO:0001627	intron_variant	0			AB034747	CCDS32386.1, CCDS45411.1	16p13.3-p12	2014-09-17							16841	protein-coding gene	gene with protein product		603795				9305847, 10200294	Standard	NM_004862		Approved	PIG7, SIMPLE, FLJ38636, TP53I7	uc002dbb.3	Q99732		ENST00000571688.1:c.5-7868->A	16.37:g.11658459_11658460insT			11565960	D3DUG1|G5E9K0|Q05DW0|Q9C0L6	RNA	INS	-	NULL	ENST00000571688.1	37	NULL	CCDS32386.1	16																																																																																			-	-		0.401	LITAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000209636	protein_coding	OTTHUMT00000436794.2	-	NM_004862		11565961	-1	pseudogene	ENST00000386901	ensembl	human	novel	54_36p	rna	INS	0.976:0.989	T
ADAMTS1	9510	genome.wustl.edu	37	21	28213473	28213474	+	Frame_Shift_Ins	INS	-	-	A			TCGA-29-1768-01A-01W-0633-09	TCGA-29-1768-10A-01W-0634-09	-	-					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bde7b115-28f2-4475-862b-d07187de8cb5	7165cabf-882f-4999-a7ff-c14a275f0670	g.chr21:28213473_28213474insA	ENST00000284984.3	-	4	1675_1676	c.1221_1222insT	c.(1219-1224)tttaacfs	p.N408fs		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	408	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				heart trabecula formation (GO:0060347)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|negative regulation of cell proliferation (GO:0008285)|ovulation from ovarian follicle (GO:0001542)	basement membrane (GO:0005604)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)	heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		TGTGGCATGTTAAACACGTGGC	0.525																																																0			21																																								27135345	SO:0001589	frameshift_variant	9510			AF060152	CCDS33524.1	21q21.3	2008-05-14	2005-08-19		ENSG00000154734	ENSG00000154734		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	217	protein-coding gene	gene with protein product		605174	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 1"""			10438512	Standard	NM_006988		Approved	C3-C5, METH1, KIAA1346	uc002ymf.3	Q9UHI8	OTTHUMG00000078688	ENST00000284984.3:c.1222dupT	21.37:g.28213476_28213476dupA	ENSP00000284984:p.Asn408fs		27135344	D3DSD5|Q9NSJ8|Q9P2K0|Q9UH83|Q9UP80	Frame_Shift_Ins	INS	PatternScan_DISINTEGRIN_1,HMMPfam_Pep_M12B_propep,superfamily_SSF55486,HMMPfam_Reprolysin,PatternScan_ZINC_PROTEASE,HMMSmart_ACR,superfamily_TSP1,HMMSmart_TSP1,HMMPfam_TSP_1,HMMPfam_ADAM_spacer1	p.N407fs	ENST00000284984.3	37	c.1222_1221	CCDS33524.1	21																																																																																			-	superfamily_SSF55486,HMMPfam_Reprolysin,PatternScan_ZINC_PROTEASE		0.525	ADAMTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS1	protein_coding	OTTHUMT00000171650.2	-			27135345	-1	no_errors	NM_006988	genbank	human	reviewed	54_36p	frame_shift_ins	INS	1.000:0.998	A
C6orf10	10665	genome.wustl.edu	37	6	32317923	32317926	+	Intron	DEL	TTTC	TTTC	-	rs372506489|rs557569002|rs3038509|rs199864411|rs143741085	byFrequency	TCGA-29-1768-01A-01W-0633-09	TCGA-29-1768-10A-01W-0634-09	TTTC	TTTC					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bde7b115-28f2-4475-862b-d07187de8cb5	7165cabf-882f-4999-a7ff-c14a275f0670	g.chr6:32317923_32317926delTTTC	ENST00000447241.2	-	9	432				C6orf10_ENST00000375015.4_Intron|C6orf10_ENST00000442822.2_Intron|C6orf10_ENST00000527965.1_Intron|C6orf10_ENST00000375007.4_Intron|RNU6-603P_ENST00000411403.1_RNA|C6orf10_ENST00000533191.1_Intron	NM_006781.3	NP_006772.3	Q5SRN2	CF010_HUMAN	chromosome 6 open reading frame 10							integral component of membrane (GO:0016021)|nucleus (GO:0005634)				cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						TCTCCTTAATTTTCTTTCTGTTTT	0.392														1635	0.326478	0.1346	0.4957	5008	,	,		18767	0.3601		0.3738	False		,,,				2504	0.3824															0			6																																								32425904	SO:0001627	intron_variant	10665			U60665	CCDS34422.1, CCDS69082.1, CCDS75430.1	6p21.32	2012-11-20			ENSG00000204296	ENSG00000204296			13922	protein-coding gene	gene with protein product	"""testis specific basic protein"""					10803852	Standard	XM_005248810		Approved	TSBP	uc021yvs.1	Q5SRN2	OTTHUMG00000031107	ENST00000447241.2:c.260-317GAAA>-	6.37:g.32317927_32317930delTTTC			32425901	A2BET1|A2BET2|A6NME2|B0S7R2|B0S7R3|E9PMB1|Q5SPI9|Q5SPJ0|Q5SPK9|Q5SPL0|Q5SRN3|Q5TG25|Q5TG26|Q8N4B6	Frame_Shift_Del	DEL	NULL	p.R73fs	ENST00000447241.2	37	c.221_218	CCDS34422.1	6																																																																																			(deletion:cds_exon[32425880,32425916])	NULL		0.392	C6orf10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C6orf10	protein_coding	OTTHUMT00000076178.4	TTTC	NM_006781		32425904	-1	no_errors	ENST00000375002	ensembl	human	known	54_36p	frame_shift_del	DEL	0.017:0.017:0.014:0.010	-
AVL9	23080	genome.wustl.edu	37	7	32846661	32846665	+	Intron	DEL	AGAAG	AGAAG	-	rs60712326|rs398004296|rs74978873	byFrequency	TCGA-29-1768-01A-01W-0633-09	TCGA-29-1768-10A-01W-0634-09	AGAAG	AGAAG					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bde7b115-28f2-4475-862b-d07187de8cb5	7165cabf-882f-4999-a7ff-c14a275f0670	g.chr7:32846661_32846665delAGAAG	ENST00000404479.1	+	11	1215							Q8NBF6	AVL9_HUMAN	AVL9 homolog (S. cerevisiase)						cell migration (GO:0016477)	integral component of membrane (GO:0016021)|recycling endosome (GO:0055037)				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						GATGTAAAATAGAAGAGAAGTAAAA	0.341														2023	0.403954	0.379	0.2939	5008	,	,		19973	0.506		0.4463	False		,,,				2504	0.3671															0			7																																								32813190	SO:0001627	intron_variant	0			D87682	CCDS34613.1	7p14.3	2013-05-01	2008-10-03	2008-10-03	ENSG00000105778	ENSG00000105778			28994	protein-coding gene	gene with protein product		612927	"""KIAA0241"""	KIAA0241		17229886, 22595670	Standard	XM_005249668		Approved		uc003tcv.1	Q8NBF6	OTTHUMG00000152929	ENST00000404479.1:c.1216-222557AGAAG>-	7.37:g.32846666_32846670delAGAAG			32813186	Q92573	Frame_Shift_Del	DEL	NULL	p.R51fs	ENST00000404479.1	37	c.146_150		7																																																																																			(deletion:cds_exon[32813088,32813283])	NULL		0.341	AVL9-201	KNOWN	basic	protein_coding	LOC100134632	protein_coding		AGAAG	NM_015060		32813190	+1	no_start_codon:pseudogene:no_stop_codon	XM_001718532	genbank	human	model	54_36p	frame_shift_del	DEL	0.014:0.014:0.012:0.008:0.006	-
MELK	9833	genome.wustl.edu	37	9	36665487	36665488	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-29-1768-01A-01W-0633-09	TCGA-29-1768-10A-01W-0634-09	TA	TA					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bde7b115-28f2-4475-862b-d07187de8cb5	7165cabf-882f-4999-a7ff-c14a275f0670	g.chr9:36665487_36665488delTA	ENST00000298048.2	+	14	1501_1502	c.1317_1318delTA	c.(1315-1320)tttatgfs	p.M440fs	MELK_ENST00000538311.1_Frame_Shift_Del_p.M246fs|MELK_ENST00000543751.1_Frame_Shift_Del_p.M408fs|MELK_ENST00000541717.1_Frame_Shift_Del_p.M399fs|MELK_ENST00000536860.1_Frame_Shift_Del_p.M392fs|MELK_ENST00000536987.1_Frame_Shift_Del_p.M309fs|MELK_ENST00000545008.1_Frame_Shift_Del_p.M369fs|MELK_ENST00000536329.1_Frame_Shift_Del_p.M369fs	NM_014791.3	NP_055606.1	Q14680	MELK_HUMAN	maternal embryonic leucine zipper kinase	440	Autoinhibitory region.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|hemopoiesis (GO:0030097)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|neural precursor cell proliferation (GO:0061351)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)	cell cortex (GO:0005938)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|lipid binding (GO:0008289)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(2;1.09e-08)|all_hematologic(2;8.15e-06)	STAD - Stomach adenocarcinoma(86;0.228)			AAGAGTACTTTATGTTTCCTGA	0.356																																					Ovarian(82;980 1317 7225 14391 18624)											0			9																																								36655488	SO:0001589	frameshift_variant	9833			D79997	CCDS6606.1, CCDS59123.1, CCDS59124.1, CCDS59125.1, CCDS59126.1, CCDS59127.1, CCDS59128.1	9p13.1	2008-02-05			ENSG00000165304	ENSG00000165304			16870	protein-coding gene	gene with protein product		607025				8724849, 9136115	Standard	NM_001256689		Approved	KIAA0175	uc003zzn.4	Q14680	OTTHUMG00000019906	ENST00000298048.2:c.1317_1318delTA	9.37:g.36665487_36665488delTA	ENSP00000298048:p.Met440fs		36655487	A6P3A7|A6P3A8|B1AMQ6|B7Z1E6|B7Z5M5|B7Z6Q7|B7Z6R8|B7Z6Y0|B7Z7Q1|D3DRP8|F5H0Y0|F5H2R4|F5H689|Q7L3C3	Frame_Shift_Del	DEL	superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST,superfamily_SSF103243,HMMPfam_KA1	p.M440fs	ENST00000298048.2	37	c.1317_1318	CCDS6606.1	9																																																																																			(deletion:cds_exon[36655347,36655578])	NULL		0.356	MELK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MELK	protein_coding	OTTHUMT00000052428.3	TA	NM_014791		36655488	+1	no_errors	NM_014791	genbank	human	provisional	54_36p	frame_shift_del	DEL	0.212:0.184	-
BRCA1	672	genome.wustl.edu	37	17	41246666	41246666	+	Frame_Shift_Del	DEL	T	T	-	rs80357587		TCGA-29-1768-01A-01W-0633-09	TCGA-29-1768-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bde7b115-28f2-4475-862b-d07187de8cb5	7165cabf-882f-4999-a7ff-c14a275f0670	g.chr17:41246666delT	ENST00000357654.3	-	10	1000	c.882delA	c.(880-882)aaafs	p.K294fs	BRCA1_ENST00000346315.3_Frame_Shift_Del_p.K294fs|BRCA1_ENST00000471181.2_Frame_Shift_Del_p.K294fs|BRCA1_ENST00000493795.1_Frame_Shift_Del_p.K247fs|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000354071.3_Frame_Shift_Del_p.K294fs|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000309486.4_5'UTR|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000352993.3_Intron	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	294					androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TCATTCTGTCTTTAGTGAGTA	0.413			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																												yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	familial breast/ovarian cancer gene 1		E	0			17											143.0	129.0	133.0					17																	41246666		2203	4300	6503	38500192	SO:0001589	frameshift_variant	672	Familial Cancer Database		U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1100	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 1"", ""protein phosphatase 1, regulatory subunit 53"""	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.882delA	17.37:g.41246666delT	ENSP00000350283:p.Lys294fs		38500192	O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Frame_Shift_Del	DEL	superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1,HMMPfam_BRCT,HMMSmart_SM00292,superfamily_BRCT domain	p.D295fs	ENST00000357654.3	37	c.882	CCDS11453.1	17																																																																																			(deletion:cds_exon[38496978,38500403])	NULL		0.413	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRCA1	protein_coding	OTTHUMT00000348798.2	T	NM_007294		38500192	-1	no_errors	NM_007294	genbank	human	reviewed	54_36p	frame_shift_del	DEL	0.927	-
LENG9	94059	genome.wustl.edu	37	19	54973989	54973991	+	In_Frame_Del	DEL	CCT	CCT	-	rs140013148|rs36031488|rs201201812|rs115301361	byFrequency	TCGA-29-1768-01A-01W-0633-09	TCGA-29-1768-10A-01W-0634-09	CCT	CCT					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bde7b115-28f2-4475-862b-d07187de8cb5	7165cabf-882f-4999-a7ff-c14a275f0670	g.chr19:54973989_54973991delCCT	ENST00000333834.4	-	1	903_905	c.785_787delAGG	c.(784-789)gaggca>gca	p.E262del		NM_198988.1	NP_945339.2	Q96B70	LENG9_HUMAN	leukocyte receptor cluster (LRC) member 9	262							catalytic activity (GO:0003824)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)	11	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.134)		GGCTTCAGTGCCTCCTCAGTCAC	0.67														2078	0.414936	0.4138	0.4193	5008	,	,		15817	0.2321		0.5716	False		,,,				2504	0.4407															0			19								1758,2474		401,956,759						-8.3	0.0		dbSNP_126	46	4543,3643		1316,1911,866	no	coding	LENG9	NM_198988.1		1717,2867,1625	A1A1,A1R,RR		44.5028,41.5406,49.2591				6301,6117				59665803	SO:0001651	inframe_deletion	94059			AF211976		19q13.4	2014-05-06			ENSG00000182909	ENSG00000275183			16306	protein-coding gene	gene with protein product						10941842	Standard	NM_198988		Approved		uc010yez.2	Q96B70	OTTHUMG00000188273	ENST00000333834.4:c.785_787delAGG	19.37:g.54973992_54973994delCCT	ENSP00000331647:p.Glu262del		59665801	B2VAM3	In_Frame_Del	DEL	HMMPfam_zf-CCCH,superfamily_Cyc_nuc_Pdiester	p.E240in_frame_del	ENST00000333834.4	37	c.721_719	CCDS12895.2	19																																																																																			(deletion:cds_exon[59665082,59666521])	NULL		0.670	LENG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LENG9	protein_coding	OTTHUMT00000140806.3	CCT	NM_198988		59665803	-1	no_errors	NM_198988	genbank	human	validated	54_36p	in_frame_del	DEL	0.000:0.000:0.000	-
SPTBN2	6712	genome.wustl.edu	37	11	66458883	66458883	+	Frame_Shift_Del	DEL	C	C	-			TCGA-29-1768-01A-01W-0633-09	TCGA-29-1768-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bde7b115-28f2-4475-862b-d07187de8cb5	7165cabf-882f-4999-a7ff-c14a275f0670	g.chr11:66458883delC	ENST00000533211.1	-	27	5768	c.5437delG	c.(5437-5439)gccfs	p.A1813fs	SPTBN2_ENST00000529997.1_Frame_Shift_Del_p.A1813fs|SPTBN2_ENST00000309996.2_Frame_Shift_Del_p.A1813fs			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1813					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						CGCGCCAGGGCTTGGCGTGCC	0.701																																																0			11											35.0	34.0	34.0					11																	66458883		2198	4293	6491	66215459	SO:0001589	frameshift_variant	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.5437delG	11.37:g.66458883delC	ENSP00000432568:p.Ala1813fs		66215459	O14872|O14873	Frame_Shift_Del	DEL	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.A1813fs	ENST00000533211.1	37	c.5437	CCDS8150.1	11																																																																																			(deletion:cds_exon[66215331,66215705])	superfamily_Spectrin repeat,HMMPfam_Spectrin,HMMSmart_SM00150		0.701	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN2	protein_coding	OTTHUMT00000393892.2	C	NM_006946		66215459	-1	no_errors	NM_006946	genbank	human	validated	54_36p	frame_shift_del	DEL	0.992	-
LOC101929634	101929634	genome.wustl.edu	37	14	105131510	105131511	+	lincRNA	DEL	CA	CA	-	rs150428835		TCGA-29-1768-01A-01W-0633-09	TCGA-29-1768-10A-01W-0634-09	CA	CA					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bde7b115-28f2-4475-862b-d07187de8cb5	7165cabf-882f-4999-a7ff-c14a275f0670	g.chr14:105131510_105131511delCA	ENST00000564585.1	-	0	384_385																											cacacaaacccacacacacaca	0.455																																																0			14																																								104202556			0																															14.37:g.105131520_105131521delCA			104202555		RNA	DEL	-	NULL	ENST00000564585.1	37	NULL		14																																																																																			(deletion:rna[104202300,104202934])	-		0.455	RP11-982M15.8-001	KNOWN	basic	lincRNA	LOC100128366	lincRNA	OTTHUMT00000421673.1	CA			104202556	-1	pseudogene	XR_039745	genbank	human	model	54_36p	rna	DEL	0.000:0.000	-
PTS	5805	genome.wustl.edu	37	11	112101363	112101368	+	In_Frame_Del	DEL	GGGAAT	GGGAAT	-			TCGA-29-1768-01A-01W-0633-09	TCGA-29-1768-10A-01W-0634-09	GGGAAT	GGGAAT					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bde7b115-28f2-4475-862b-d07187de8cb5	7165cabf-882f-4999-a7ff-c14a275f0670	g.chr11:112101363_112101368delGGGAAT	ENST00000280362.3	+	4	280_285	c.201_206delGGGAAT	c.(199-207)acgggaatg>acg	p.GM68del	PTS_ENST00000525803.1_Intron|PTS_ENST00000524931.1_Start_Codon_Del	NM_000317.2	NP_000308.1	Q03393	PTPS_HUMAN	6-pyruvoyltetrahydropterin synthase	68					cellular amino acid metabolic process (GO:0006520)|central nervous system development (GO:0007417)|nitric oxide metabolic process (GO:0046209)|regulation of nitric-oxide synthase activity (GO:0050999)|small molecule metabolic process (GO:0044281)|tetrahydrobiopterin biosynthetic process (GO:0006729)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)	6-pyruvoyltetrahydropterin synthase activity (GO:0003874)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			breast(1)|large_intestine(1)	2		all_cancers(61;2.51e-14)|all_epithelial(67;1.64e-08)|Melanoma(852;8.81e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;1.27e-06)|BRCA - Breast invasive adenocarcinoma(274;1.43e-06)|all cancers(92;2.1e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0519)		ACCCTGCTACGGGAATGGTTATGAAT	0.388																																																0			11																																								111606578	SO:0001651	inframe_deletion	5805			U63382	CCDS8359.1	11q22.3	2014-04-01				ENSG00000150787	4.2.3.12		9689	protein-coding gene	gene with protein product		612719				8188266	Standard	NM_000317		Approved	PTPS	uc001pnj.4	Q03393		ENST00000280362.3:c.201_206delGGGAAT	11.37:g.112101363_112101368delGGGAAT	ENSP00000280362:p.Gly68_Met69del		111606573	B0YJ87|Q8WVG8	In_Frame_Del	DEL	HMMPfam_PTPS,superfamily_Tetrahydrobiopterin biosynthesis enzymes-like,PatternScan_PTPS_1,PatternScan_PTPS_2,PatternScan_WD_REPEATS_1	p.GM68in_frame_del	ENST00000280362.3	37	c.201_206	CCDS8359.1	11																																																																																			(deletion:cds_exon[111606559,111606615])	HMMPfam_PTPS,superfamily_Tetrahydrobiopterin biosynthesis enzymes-like		0.388	PTS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTS	protein_coding	OTTHUMT00000393541.1	GGGAAT	NM_000317		111606578	+1	no_errors	NM_000317	genbank	human	reviewed	54_36p	in_frame_del	DEL	1.000:1.000:1.000:0.993:1.000:1.000	-
PCDH12	51294	genome.wustl.edu	37	5	141324955	141324956	+	In_Frame_Ins	INS	-	-	CTGCTGCTG	rs5871792|rs200883539|rs59930617	byFrequency	TCGA-29-1768-01A-01W-0633-09	TCGA-29-1768-10A-01W-0634-09	-	-					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bde7b115-28f2-4475-862b-d07187de8cb5	7165cabf-882f-4999-a7ff-c14a275f0670	g.chr5:141324955_141324956insCTGCTGCTG	ENST00000231484.3	-	4	4755_4756	c.3545_3546insCAGCAGCAG	c.(3544-3546)agg>agCAGCAGCAGg	p.1181_1182insSSS		NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	1181	Poly-Ser.			S -> SSSS (in Ref. 4; BAB14837). {ECO:0000305}.	calcium-dependent cell-cell adhesion (GO:0016339)|glycogen metabolic process (GO:0005977)|homophilic cell adhesion (GO:0007156)|labyrinthine layer development (GO:0060711)|neuron recognition (GO:0008038)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCACAGGCACctgctgctgct	0.559														2618	0.522764	0.3064	0.5807	5008	,	,		19761	0.8323		0.4095	False		,,,				2504	0.5716															0			5																																								141305140	SO:0001652	inframe_insertion	51294			AF231025	CCDS4269.1	5q31.3	2010-01-26			ENSG00000113555	ENSG00000113555		"""Cadherins / Protocadherins : Non-clustered"""	8657	protein-coding gene	gene with protein product		605622				10716726, 10380929	Standard	NM_016580		Approved	VE-cadherin-2	uc003llx.3	Q9NPG4	OTTHUMG00000129658	ENST00000231484.3:c.3537_3545dupCAGCAGCAG	5.37:g.141324956_141324964dupCTGCTGCTG	ENSP00000231484:p.Ser1179_Ser1181dup		141305139	Q6UXB6|Q96KB8|Q9H7Y6|Q9H8E0	In_Frame_Ins	INS	superfamily_Cadherin,HMMPfam_Cadherin_2,HMMSmart_CA,PatternScan_CADHERIN_1,HMMPfam_Cadherin	p.1182in_frame_insSSS	ENST00000231484.3	37	c.3546_3545	CCDS4269.1	5																																																																																			-	NULL		0.559	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDH12	protein_coding	OTTHUMT00000251858.1	-	NM_016580		141305140	-1	no_errors	NM_016580	genbank	human	reviewed	54_36p	in_frame_ins	INS	0.391:0.998	CTGCTGCTG
ZNF354C	30832	genome.wustl.edu	37	5	178509351	178509352	+	3'UTR	INS	-	-	TCTT	rs386695574|rs145972880|rs398072665|rs34059723|rs75956529	byFrequency	TCGA-29-1768-01A-01W-0633-09	TCGA-29-1768-10A-01W-0634-09	-	-					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bde7b115-28f2-4475-862b-d07187de8cb5	7165cabf-882f-4999-a7ff-c14a275f0670	g.chr5:178509351_178509352insTCTT	ENST00000315475.6	+	0	4224_4225					NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	zinc finger protein 354C						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		atttaattaaatcttttgtcta	0.356														1559	0.311302	0.2352	0.2378	5008	,	,		14850	0.4286		0.3052	False		,,,				2504	0.3517															0			5																																								178441958	SO:0001624	3_prime_UTR_variant	645944				CCDS4443.1	5q35	2013-01-08			ENSG00000177932	ENSG00000177932		"""Zinc fingers, C2H2-type"", ""-"""	16736	protein-coding gene	gene with protein product						10786630	Standard	NM_014594		Approved	KID3	uc003mju.3	Q86Y25	OTTHUMG00000130888	ENST00000315475.6:c.*2254->TCTT	5.37:g.178509352_178509355dupTCTT			178441957	Q6P4P9|Q8NFX1	RNA	INS	-	NULL	ENST00000315475.6	37	NULL	CCDS4443.1	5																																																																																			-	-		0.356	ZNF354C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC645944	protein_coding	OTTHUMT00000253473.2	-			178441958	-1	pseudogene	XR_017227	genbank	human	model	54_36p	rna	INS	0.011:0.008	TCTT
