#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	G	G	A			TCGA-29-1711-01A-01W-0633-09	TCGA-29-1711-10A-01W-0633-09	G	G					Unknown	Invalid:failed_liftOver	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	39ddd936-df31-4268-9b57-3e0fac1bc69b	72feb979-d793-4e9d-acd7-4b315ef6f80c	g.chrUnknown:0G>A								None (None upstream) : None (None downstream)																								0.0																																																0			NT_113889																																								39891	SO:0001628	intergenic_variant	0																															Unknown.37:g.0G>A			39891		Silent	SNP	HMMPfam_Tektin	p.R142		37	c.426		NT_113889																																																																																			-	HMMPfam_Tektin	0	0					ENSG00000215615			G			39891	-1	no_stop_codon	ENST00000400681	ensembl	human	known	54_36p	silent	SNP	NULL	A
Unknown	0	genome.wustl.edu	37	6	4474947	4474947	+	IGR	SNP	T	T	A	rs77210193	byFrequency	TCGA-29-1711-01A-01W-0633-09	TCGA-29-1711-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	39ddd936-df31-4268-9b57-3e0fac1bc69b	72feb979-d793-4e9d-acd7-4b315ef6f80c	g.chr6:4474947T>A								RNA5SP202 (46632 upstream) : RP11-274H24.1 (17093 downstream)																							attgtcaccttccaatggaca	0.438													T|||	186	0.0371406	0.1339	0.013	5008	,	,		20867	0.0		0.0	False		,,,				2504	0.0															0			6																																								4419946	SO:0001628	intergenic_variant	0																															6.37:g.4474947T>A			4419946		Nonsense_Mutation	SNP	NULL	p.K55*		37	c.163		6																																																																																			-	NULL	0	0.438					LOC100134205			T			4419946	-1	no_start_codon:pseudogene:no_stop_codon	XM_001716692	genbank	human	model	54_36p	nonsense	SNP	0.001	A
AKR1C4	1109	genome.wustl.edu	37	10	5247730	5247730	+	Missense_Mutation	SNP	C	C	T	rs531165422	byFrequency	TCGA-29-1711-01A-01W-0633-09	TCGA-29-1711-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	39ddd936-df31-4268-9b57-3e0fac1bc69b	72feb979-d793-4e9d-acd7-4b315ef6f80c	g.chr10:5247730C>T	ENST00000380448.1	+	6	633	c.380C>T	c.(379-381)aCg>aTg	p.T127M	AKR1C4_ENST00000263126.1_Missense_Mutation_p.T127M			P17516	AK1C4_HUMAN	aldo-keto reductase family 1, member C4	127					androgen metabolic process (GO:0008209)|bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular response to jasmonic acid stimulus (GO:0071395)|daunorubicin metabolic process (GO:0044597)|doxorubicin metabolic process (GO:0044598)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aldo-keto reductase (NADP) activity (GO:0004033)|androsterone dehydrogenase activity (GO:0047023)|bile acid transmembrane transporter activity (GO:0015125)|chlordecone reductase activity (GO:0047743)|electron carrier activity (GO:0009055)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|retinal dehydrogenase activity (GO:0001758)	p.T127M(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	18						CCAGGTGAGACGCCACTACCA	0.443													C|||	2	0.000399361	0.0008	0.0	5008	,	,		19952	0.0		0.0	False		,,,				2504	0.001															1	Substitution - Missense(1)	large_intestine(1)	10											120.0	100.0	107.0					10																	5247730		2203	4300	6503	5237730	SO:0001583	missense	1109			M33375	CCDS7064.1	10p15.1	2012-12-04	2012-12-04		ENSG00000198610	ENSG00000198610	1.1.1.225	"""Aldo-keto reductases"""	387	protein-coding gene	gene with protein product	"""chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4"""	600451	"""aldo-keto reductase family 1, member C4 (chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4)"""	CHDR		7789999	Standard	NM_001818		Approved	DD4, HAKRA, C11, 3-alpha-HSD, CDR, MGC22581	uc001ihw.2	P17516	OTTHUMG00000017591	ENST00000380448.1:c.380C>T	10.37:g.5247730C>T	ENSP00000369814:p.Thr127Met		5237730	Q5T6A3|Q8WW84|Q9NS54	Missense_Mutation	SNP	superfamily_NAD(P)-linked oxidoreductase,HMMPfam_Aldo_ket_red,PatternScan_ALDOKETO_REDUCTASE_1,PatternScan_ALDOKETO_REDUCTASE_2,PatternScan_ALDOKETO_REDUCTASE_3	p.T127M	ENST00000380448.1	37	c.380	CCDS7064.1	10	.	.	.	.	.	.	.	.	.	.	c	9.936	1.216229	0.22373	.	.	ENSG00000198610	ENST00000380448;ENST00000263126	T;T	0.51071	0.72;0.72	2.9	-5.79	0.02354	NADP-dependent oxidoreductase domain (3);	1.137330	0.06647	N	0.762085	T	0.33789	0.0875	L	0.28400	0.85	0.09310	N	1	P	0.35774	0.519	B	0.40444	0.329	T	0.44205	-0.9343	10	0.87932	D	0	.	4.6262	0.12479	0.4332:0.2806:0.0:0.2862	.	127	P17516	AK1C4_HUMAN	M	127	ENSP00000369814:T127M;ENSP00000263126:T127M	ENSP00000263126:T127M	T	+	2	0	AKR1C4	5237730	0.930000	0.31532	0.000000	0.03702	0.001000	0.01503	1.805000	0.38883	-1.272000	0.02427	-1.734000	0.00692	ACG	-	superfamily_NAD(P)-linked oxidoreductase,HMMPfam_Aldo_ket_red		0.443	AKR1C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKR1C4	protein_coding	OTTHUMT00000046543.2	C	NM_001818		5237730	+1	no_errors	NM_001818	genbank	human	reviewed	54_36p	missense	SNP	0.003	T
LAMA1	284217	genome.wustl.edu	37	18	7032153	7032153	+	Missense_Mutation	SNP	C	C	T	rs144429570	byFrequency	TCGA-29-1711-01A-01W-0633-09	TCGA-29-1711-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	39ddd936-df31-4268-9b57-3e0fac1bc69b	72feb979-d793-4e9d-acd7-4b315ef6f80c	g.chr18:7032153C>T	ENST00000389658.3	-	16	2279	c.2186G>A	c.(2185-2187)cGc>cAc	p.R729H		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	729	Laminin EGF-like 5; second part. {ECO:0000255|PROSITE-ProRule:PRU00460}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				TCCATCCACGCGGTAATAGCC	0.478													C|||	6	0.00119808	0.0	0.0	5008	,	,		17847	0.001		0.005	False		,,,				2504	0.0															0			18						C	HIS/ARG	5,4401	9.9+/-24.2	0,5,2198	93.0	74.0	80.0		2186	5.5	0.9	18	dbSNP_134	80	27,8573	19.2+/-60.6	0,27,4273	yes	missense	LAMA1	NM_005559.3	29	0,32,6471	TT,TC,CC		0.314,0.1135,0.246	probably-damaging	729/3076	7032153	32,12974	2203	4300	6503	7022153	SO:0001583	missense	284217			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.2186G>A	18.37:g.7032153C>T	ENSP00000374309:p.Arg729His		7022153		Missense_Mutation	SNP	HMMSmart_SM00136,HMMPfam_Laminin_N,superfamily_Galactose-binding domain-like,HMMPfam_Laminin_EGF,HMMSmart_SM00180,superfamily_Concanavalin A-like lectins/glucanases,PatternScan_EGF_1,PatternScan_EGF_LAM_1,HMMSmart_SM00181,superfamily_EGF/Laminin,PatternScan_EGF_2,HMMSmart_SM00281,HMMPfam_Laminin_B,HMMPfam_Laminin_I,HMMPfam_Laminin_II,HMMSmart_SM00282,HMMPfam_Laminin_G_1,HMMPfam_Laminin_G_2	p.R729H	ENST00000389658.3	37	c.2186	CCDS32787.1	18	5	0.0022893772893772895	0	0.0	0	0.0	1	0.0017482517482517483	4	0.005277044854881266	C	28.3	4.911440	0.92178	0.001135	0.00314	ENSG00000101680	ENST00000389658	T	0.64260	-0.09	5.51	5.51	0.81932	EGF-like, laminin (2);	0.077740	0.49916	D	0.000136	T	0.75583	0.3869	M	0.83953	2.67	0.58432	D	0.999999	D	0.89917	1.0	D	0.80764	0.994	T	0.79546	-0.1759	10	0.46703	T	0.11	.	17.5921	0.87999	0.0:1.0:0.0:0.0	.	729	P25391	LAMA1_HUMAN	H	729	ENSP00000374309:R729H	ENSP00000374309:R729H	R	-	2	0	LAMA1	7022153	1.000000	0.71417	0.881000	0.34555	0.716000	0.41182	7.462000	0.80851	2.572000	0.86782	0.655000	0.94253	CGC	-	superfamily_Concanavalin A-like lectins/glucanases,superfamily_EGF/Laminin,HMMSmart_SM00180,PatternScan_EGF_LAM_1		0.478	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA1	protein_coding	OTTHUMT00000257369.1	C	NM_005559		7022153	-1	no_errors	NM_005559	genbank	human	validated	54_36p	missense	SNP	0.989	T
TP53	7157	genome.wustl.edu	37	17	7577580	7577580	+	Missense_Mutation	SNP	T	T	C	rs587780073		TCGA-29-1711-01A-01W-0633-09	TCGA-29-1711-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	39ddd936-df31-4268-9b57-3e0fac1bc69b	72feb979-d793-4e9d-acd7-4b315ef6f80c	g.chr17:7577580T>C	ENST00000269305.4	-	7	890	c.701A>G	c.(700-702)tAc>tGc	p.Y234C	TP53_ENST00000413465.2_Missense_Mutation_p.Y234C|TP53_ENST00000359597.4_Missense_Mutation_p.Y234C|TP53_ENST00000455263.2_Missense_Mutation_p.Y234C|TP53_ENST00000420246.2_Missense_Mutation_p.Y234C|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.Y234C	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	234	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> K (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> N (in sporadic cancers; somatic mutation).|Y -> Q (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Y234C(94)|p.Y234S(9)|p.Y141C(8)|p.0?(8)|p.?(5)|p.Y234del(3)|p.Y141S(2)|p.I232_Y236delIHYNY(1)|p.Y234fs*2(1)|p.Y234F(1)|p.T230_Y234delTTIHY(1)|p.H233fs*6(1)|p.Y234R(1)|p.V225fs*23(1)|p.D228fs*12(1)|p.Y234fs*5(1)|p.Y234fs*4(1)|p.I232fs*5(1)|p.H233_C242del10(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)	CATGTAGTTGTAGTGGATGGT	0.572		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"""	141	Substitution - Missense(115)|Whole gene deletion(8)|Deletion - Frameshift(7)|Deletion - In frame(6)|Unknown(5)	lung(32)|haematopoietic_and_lymphoid_tissue(17)|breast(17)|ovary(15)|central_nervous_system(10)|urinary_tract(9)|upper_aerodigestive_tract(8)|oesophagus(7)|biliary_tract(6)|large_intestine(5)|kidney(4)|bone(4)|cervix(2)|stomach(2)|adrenal_gland(1)|skin(1)|liver(1)	17	GRCh37	CM035576	TP53	M							119.0	95.0	103.0					17																	7577580		2203	4300	6503	7518305	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.701A>G	17.37:g.7577580T>C	ENSP00000269305:p.Tyr234Cys		7518305	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.Y234C	ENST00000269305.4	37	c.701	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	T	16.52	3.146603	0.57044	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99826	-6.98;-6.98;-6.98;-6.98;-6.98;-6.98;-6.98;-6.98	4.62	3.49	0.39957	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.211900	0.41823	D	0.000804	D	0.99778	0.9908	M	0.88105	2.93	0.51012	D	0.999909	D;D;D;D;D;D	0.89917	0.999;1.0;1.0;0.999;1.0;1.0	D;D;D;D;D;D	0.91635	0.982;0.998;0.997;0.985;0.994;0.999	D	0.98045	1.0384	10	0.87932	D	0	-10.1131	9.0203	0.36195	0.1783:0.0:0.0:0.8216	.	234;234;141;234;234;234	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	C	234;234;234;234;234;234;223;141;102;141	ENSP00000410739:Y234C;ENSP00000352610:Y234C;ENSP00000269305:Y234C;ENSP00000398846:Y234C;ENSP00000391127:Y234C;ENSP00000391478:Y234C;ENSP00000425104:Y102C;ENSP00000423862:Y141C	ENSP00000269305:Y234C	Y	-	2	0	TP53	7518305	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.037000	0.41174	0.835000	0.34877	0.379000	0.24179	TAC	-	HMMPfam_P53,superfamily_p53-like transcription factors		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	T	NM_000546		7518305	-1	no_errors	NM_000546	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
ATG7	10533	genome.wustl.edu	37	3	11340845	11340845	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1711-01A-01W-0633-09	TCGA-29-1711-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	39ddd936-df31-4268-9b57-3e0fac1bc69b	72feb979-d793-4e9d-acd7-4b315ef6f80c	g.chr3:11340845C>T	ENST00000354449.3	+	3	195	c.170C>T	c.(169-171)gCt>gTt	p.A57V	ATG7_ENST00000469654.2_3'UTR|ATG7_ENST00000446450.2_Missense_Mutation_p.A57V|ATG7_ENST00000354956.5_Missense_Mutation_p.A57V	NM_006395.2	NP_006386.1	O95352	ATG7_HUMAN	autophagy related 7	57					adult walking behavior (GO:0007628)|C-terminal protein lipidation (GO:0006501)|cardiac muscle cell development (GO:0055013)|cellular amino acid metabolic process (GO:0006520)|cellular protein modification process (GO:0006464)|cellular response to hyperoxia (GO:0071455)|cellular response to nitrogen starvation (GO:0006995)|cellular response to starvation (GO:0009267)|central nervous system neuron axonogenesis (GO:0021955)|cerebellar Purkinje cell layer development (GO:0021680)|cerebral cortex development (GO:0021987)|late nucleophagy (GO:0044805)|liver development (GO:0001889)|membrane fusion (GO:0061025)|mitochondrion degradation (GO:0000422)|mitochondrion organization (GO:0007005)|negative regulation of apoptotic process (GO:0043066)|negative stranded viral RNA replication (GO:0039689)|neurological system process (GO:0050877)|piecemeal microautophagy of nucleus (GO:0034727)|positive regulation of apoptotic process (GO:0043065)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein modification process (GO:0031401)|post-embryonic development (GO:0009791)|protein catabolic process (GO:0030163)|protein lipidation (GO:0006497)|protein modification by small protein conjugation (GO:0032446)|protein transport (GO:0015031)|pyramidal neuron development (GO:0021860)|regulation of protein ubiquitination (GO:0031396)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|pre-autophagosomal structure (GO:0000407)	Atg12 activating enzyme activity (GO:0019778)|Atg8 activating enzyme (GO:0019779)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)|ubiquitin activating enzyme activity (GO:0004839)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						GGTGACTCTGCTGGGCTGCCA	0.368																																																0			3											144.0	137.0	140.0					3																	11340845		2203	4300	6503	11315845	SO:0001583	missense	10533			AF094516	CCDS2605.1, CCDS46752.1, CCDS46753.1	3p25.3-p25.2	2014-02-18	2012-06-06	2005-09-11	ENSG00000197548	ENSG00000197548		"""Ubiquitin-like modifier activating enzymes"""	16935	protein-coding gene	gene with protein product	"""ubiquitin-activating enzyme E1-like protein"""	608760	"""APG7 autophagy 7-like (S. cerevisiae)"", ""ATG7 autophagy related 7 homolog (S. cerevisiae)"""	APG7L		10233149	Standard	NM_006395		Approved	GSA7, DKFZp434N0735	uc003bwc.3	O95352	OTTHUMG00000129740	ENST00000354449.3:c.170C>T	3.37:g.11340845C>T	ENSP00000346437:p.Ala57Val		11315845	B4E170|E9PB95|Q7L8L0|Q9BWP2|Q9UFH4	Missense_Mutation	SNP	superfamily_Activating enzymes of the ubiquitin-like proteins,HMMPfam_ThiF	p.A57V	ENST00000354449.3	37	c.170	CCDS2605.1	3	.	.	.	.	.	.	.	.	.	.	C	13.57	2.275377	0.40194	.	.	ENSG00000197548	ENST00000451513;ENST00000435760;ENST00000451830;ENST00000444619;ENST00000446450;ENST00000354956;ENST00000354449;ENST00000419112;ENST00000423116	T;T;T;T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97	6.07	4.29	0.51040	.	0.344739	0.31427	N	0.007661	T	0.21468	0.0517	N	0.10664	0.02	0.29757	N	0.835848	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.13495	-1.0507	10	0.21540	T	0.41	-9.0706	10.0912	0.42447	0.0:0.8457:0.0:0.1543	.	57;57;57	E9PB95;O95352-2;O95352	.;.;ATG7_HUMAN	V	57	ENSP00000415223:A57V;ENSP00000390547:A57V;ENSP00000411880:A57V;ENSP00000389996:A57V;ENSP00000412580:A57V;ENSP00000347042:A57V;ENSP00000346437:A57V;ENSP00000408303:A57V;ENSP00000416644:A57V	ENSP00000346437:A57V	A	+	2	0	ATG7	11315845	0.398000	0.25279	0.865000	0.33974	0.994000	0.84299	0.797000	0.26999	0.908000	0.36671	0.655000	0.94253	GCT	-	NULL		0.368	ATG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATG7	protein_coding	OTTHUMT00000251951.3	C	NM_006395		11315845	+1	no_errors	NM_006395	genbank	human	validated	54_36p	missense	SNP	0.895	T
AL050303.1	0	genome.wustl.edu	37	21	15052008	15052008	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1711-01A-01W-0633-09	TCGA-29-1711-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	39ddd936-df31-4268-9b57-3e0fac1bc69b	72feb979-d793-4e9d-acd7-4b315ef6f80c	g.chr21:15052008G>T	ENST00000596508.1	-	1	1451	c.323C>A	c.(322-324)cCc>cAc	p.P108H																								AGGACGCCAGGGGGCTGGGTC	0.647																																																0			21																																								13973879	SO:0001583	missense	441956																														ENST00000596508.1:c.323C>A	21.37:g.15052008G>T	ENSP00000473030:p.Pro108His		13973879		Missense_Mutation	SNP	NULL	p.P108H	ENST00000596508.1	37	c.323		21																																																																																			-	NULL		0.647	AL050303.1-201	KNOWN	basic|appris_principal	protein_coding	LOC441956	protein_coding		G			13973879	-1	no_errors	NM_001013729	genbank	human	predicted	54_36p	missense	SNP	0.394	T
Unknown	0	genome.wustl.edu	37	22	16362633	16362633	+	IGR	SNP	C	C	T	rs373841376	byFrequency	TCGA-29-1711-01A-01W-0633-09	TCGA-29-1711-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	39ddd936-df31-4268-9b57-3e0fac1bc69b	72feb979-d793-4e9d-acd7-4b315ef6f80c	g.chr22:16362633C>T								POTEH (74696 upstream) : LA16c-2F2.8 (10447 downstream)																							GGGGCTGGGCCTGGGCCTGCC	0.632																																																0			22																																								14742633	SO:0001628	intergenic_variant	644637																															22.37:g.16362633C>T			14742633		RNA	SNP	-	NULL		37	NULL		22																																																																																			-	-	0	0.632					LOC644637			C			14742633	+1	pseudogene	XR_017623	genbank	human	model	54_36p	rna	SNP	0.000	T
MAP1S	55201	genome.wustl.edu	37	19	17838637	17838637	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1711-01A-01W-0633-09	TCGA-29-1711-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	39ddd936-df31-4268-9b57-3e0fac1bc69b	72feb979-d793-4e9d-acd7-4b315ef6f80c	g.chr19:17838637G>T	ENST00000324096.4	+	5	2595	c.2444G>T	c.(2443-2445)gGc>gTc	p.G815V	MAP1S_ENST00000597681.1_3'UTR|CTD-3149D2.4_ENST00000595363.1_RNA|MAP1S_ENST00000544059.2_Missense_Mutation_p.G789V	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	815	Necessary for association with microtubules.|Necessary for interaction with RASSF1 isoform A and isoform C.|Pro-rich.				apoptotic DNA fragmentation (GO:0006309)|brain development (GO:0007420)|execution phase of apoptosis (GO:0097194)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|nervous system development (GO:0007399)|neuron projection morphogenesis (GO:0048812)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	actin filament binding (GO:0051015)|beta-tubulin binding (GO:0048487)|DNA binding (GO:0003677)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						GACACAGAGGGCTTTGGAGTC	0.662																																																0			19											38.0	36.0	36.0					19																	17838637		2203	4300	6503	17699637	SO:0001583	missense	55201			BC067115	CCDS32954.1	19p13.12	2008-02-05	2006-07-04	2006-07-04		ENSG00000130479			15715	protein-coding gene	gene with protein product		607573	"""chromosome 19 open reading frame 5"", ""VCY2 interacting protein 1"", ""BPY2 interacting protein 1"""	C19orf5, VCY2IP1, BPY2IP1		11827465, 15528209, 16297881, 14627543	Standard	NM_018174		Approved	FLJ10669, MAP8	uc002nhe.1	Q66K74		ENST00000324096.4:c.2444G>T	19.37:g.17838637G>T	ENSP00000325313:p.Gly815Val		17699637	B4DH53|Q27QB1|Q6NXF1|Q8N3L8|Q8N3W5|Q8NI88|Q96H94|Q96IT4|Q96SP8|Q9BRC6|Q9H928|Q9NVK7	Missense_Mutation	SNP	NULL	p.G815V	ENST00000324096.4	37	c.2444	CCDS32954.1	19	.	.	.	.	.	.	.	.	.	.	G	0.311	-0.968006	0.02232	.	.	ENSG00000130479	ENST00000324096;ENST00000544059	T;T	0.18502	2.21;2.21	4.67	-4.22	0.03800	.	0.544292	0.16573	N	0.208535	T	0.13329	0.0323	L	0.50333	1.59	0.09310	N	1	B;B	0.10296	0.003;0.003	B;B	0.11329	0.004;0.006	T	0.26573	-1.0099	10	0.59425	D	0.04	-11.8893	9.1711	0.37081	0.1743:0.5318:0.2939:0.0	.	789;815	B4DH53;Q66K74	.;MAP1S_HUMAN	V	815;789	ENSP00000325313:G815V;ENSP00000439243:G789V	ENSP00000325313:G815V	G	+	2	0	MAP1S	17699637	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.036000	0.13819	-0.425000	0.07371	-0.150000	0.13652	GGC	-	NULL		0.662	MAP1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP1S	protein_coding	OTTHUMT00000466027.1	G	NM_018174		17699637	+1	no_errors	NM_018174	genbank	human	validated	54_36p	missense	SNP	0.001	T
SMC6	79677	genome.wustl.edu	37	2	17889969	17889969	+	Silent	SNP	A	A	G			TCGA-29-1711-01A-01W-0633-09	TCGA-29-1711-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	39ddd936-df31-4268-9b57-3e0fac1bc69b	72feb979-d793-4e9d-acd7-4b315ef6f80c	g.chr2:17889969A>G	ENST00000448223.2	-	17	2051	c.1782T>C	c.(1780-1782)gaT>gaC	p.D594D	SMC6_ENST00000351948.4_Silent_p.D594D|SMC6_ENST00000402989.1_Silent_p.D594D|SMC6_ENST00000381272.4_Silent_p.D620D	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN	structural maintenance of chromosomes 6	594	Flexible hinge.				cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|intracellular (GO:0005622)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	ATP binding (GO:0005524)			NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CAACCGCATTATCTATTTCTA	0.353																																																0			2											93.0	91.0	92.0					2																	17889969		2203	4300	6503	17753450	SO:0001819	synonymous_variant	79677			AJ310551	CCDS1690.1	2p24.3	2008-02-05	2006-07-06	2006-07-06	ENSG00000163029	ENSG00000163029		"""Structural maintenance of chromosomes proteins"""	20466	protein-coding gene	gene with protein product		609387	"""SMC6 structural maintenance of chromosomes 6-like 1 (yeast)"""	SMC6L1		11230166	Standard	NM_024624		Approved	FLJ22116	uc002rcn.3	Q96SB8	OTTHUMG00000090675	ENST00000448223.2:c.1782T>C	2.37:g.17889969A>G			17753450	A8K8Q6|D6W518|Q05BV4|Q9H0X3|Q9H6M0	Silent	SNP	HMMPfam_SMC_N,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.D594	ENST00000448223.2	37	c.1782	CCDS1690.1	2																																																																																			-	HMMPfam_SMC_N,superfamily_P-loop containing nucleoside triphosphate hydrolases		0.353	SMC6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SMC6	protein_coding	OTTHUMT00000207359.1	A	NM_024624		17753450	-1	no_errors	NM_024624	genbank	human	validated	54_36p	silent	SNP	0.996	G
Unknown	0	genome.wustl.edu	37	22	20294183	20294183	+	IGR	SNP	C	C	A			TCGA-29-1711-01A-01W-0633-09	TCGA-29-1711-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	39ddd936-df31-4268-9b57-3e0fac1bc69b	72feb979-d793-4e9d-acd7-4b315ef6f80c	g.chr22:20294183C>A								RTN4R (34913 upstream) : DGCR6L (7615 downstream)																							CCCACTCTCCCACCCCCTGCG	0.652																																																0			22																																								18674183	SO:0001628	intergenic_variant	0																															22.37:g.20294183C>A			18674183		Silent	SNP	HMMPfam_Pro_dh,superfamily_FAD-linked oxidoreductase	p.P46		37	c.138		22																																																																																			-	HMMPfam_Pro_dh	0	0.652					ENSG00000161132			C			18674183	+1	no_start_codon	ENST00000292728	ensembl	human	known	54_36p	silent	SNP	0.005	A
GOLGA8CP	729786	genome.wustl.edu	37	15	20771786	20771786	+	IGR	SNP	G	G	T	rs144501187	byFrequency	TCGA-29-1711-01A-01W-0633-09	TCGA-29-1711-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	39ddd936-df31-4268-9b57-3e0fac1bc69b	72feb979-d793-4e9d-acd7-4b315ef6f80c	g.chr15:20771786G>T								GOLGA6L6 (24672 upstream) : RN7SL759P (4431 downstream)																							GGGGGCTAGAGGTGAGTGGAC	0.478													G|||	4	0.000798722	0.003	0.0	5008	,	,		26871	0.0		0.0	False		,,,				2504	0.0															0			15																																								19031800	SO:0001628	intergenic_variant	0																															15.37:g.20771786G>T			19031800		Missense_Mutation	SNP	NULL	p.E124D		37	c.372		15																																																																																			-	NULL	0	0.478					ENSG00000181984			G			19031800	+1	no_errors	ENST00000318268	ensembl	human	known	54_36p	missense	SNP	0.887	T
GOLGA8H	728498	genome.wustl.edu	37	15	30905821	30905821	+	Intron	SNP	C	C	T			TCGA-29-1711-01A-01W-0633-09	TCGA-29-1711-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	39ddd936-df31-4268-9b57-3e0fac1bc69b	72feb979-d793-4e9d-acd7-4b315ef6f80c	g.chr15:30905821C>T	ENST00000566740.1	+	16	1368				RN7SL628P_ENST00000473920.2_RNA|AC026150.1_ENST00000408431.1_RNA			P0CJ92	GOG8H_HUMAN	golgin A8 family, member H							Golgi apparatus (GO:0005794)											GGCCTGGGGGCGAGTCTGTGA	0.662																																																0			15																																								28693113	SO:0001627	intron_variant	728498				CCDS61576.1	15q13.2	2012-10-05			ENSG00000261794	ENSG00000261794			37443	protein-coding gene	gene with protein product	"""golgi autoantigen, golgin subfamily a, 6-like 11"""						Standard	NM_001282490		Approved	GOLGA6L11		P0CJ92	OTTHUMG00000175654	ENST00000566740.1:c.1369-152C>T	15.37:g.30905821C>T			28693113		Silent	SNP	NULL	p.G425	ENST00000566740.1	37	c.1275		15																																																																																			-	NULL		0.662	GOLGA8H-001	NOVEL	basic|appris_principal	protein_coding	LOC728498	protein_coding	OTTHUMT00000430724.1	C	XM_001724395		28693113	+1	no_errors	XM_001724395	genbank	human	model	54_36p	silent	SNP	0.856	T
MAGEB3	4114	genome.wustl.edu	37	X	30254669	30254669	+	Missense_Mutation	SNP	G	G	T	rs149480290		TCGA-29-1711-01A-01W-0633-09	TCGA-29-1711-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	39ddd936-df31-4268-9b57-3e0fac1bc69b	72feb979-d793-4e9d-acd7-4b315ef6f80c	g.chrX:30254669G>T	ENST00000361644.2	+	5	1365	c.628G>T	c.(628-630)Gtg>Ttg	p.V210L		NM_002365.4	NP_002356.2	O15480	MAGB3_HUMAN	melanoma antigen family B, 3	210	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	25						TCTCCTGGGCGTGATCTTCAT	0.478																																																0			X											45.0	39.0	41.0					X																	30254669		2202	4300	6502	30164590	SO:0001583	missense	4114			AK057441	CCDS14220.1	Xp21.3	2009-03-17			ENSG00000198798	ENSG00000198798			6810	protein-coding gene	gene with protein product	"""cancer/testis antigen family 3, member 5"""	300152				9441743	Standard	NM_002365		Approved	CT3.5	uc004dca.2	O15480	OTTHUMG00000021320	ENST00000361644.2:c.628G>T	X.37:g.30254669G>T	ENSP00000355198:p.Val210Leu		30164590	A0AVE4|B3KQ52|O75861	Missense_Mutation	SNP	HMMPfam_MAGE	p.V210L	ENST00000361644.2	37	c.628	CCDS14220.1	X	.	.	.	.	.	.	.	.	.	.	G	6.503	0.461089	0.12342	.	.	ENSG00000198798	ENST00000378986;ENST00000361644	T;T	0.04454	3.62;3.62	4.3	0.516	0.17019	.	0.181913	0.34959	U	0.003559	T	0.03959	0.0111	L	0.37850	1.14	0.09310	N	1	B	0.10296	0.003	B	0.20184	0.028	T	0.35500	-0.9786	10	0.72032	D	0.01	.	4.3588	0.11192	0.2152:0.3581:0.4267:0.0	.	210	O15480	MAGB3_HUMAN	L	210	ENSP00000368271:V210L;ENSP00000355198:V210L	ENSP00000355198:V210L	V	+	1	0	MAGEB3	30164590	0.000000	0.05858	0.041000	0.18516	0.211000	0.24417	-1.104000	0.03326	-0.043000	0.13513	-0.916000	0.02749	GTG	-	HMMPfam_MAGE		0.478	MAGEB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEB3	protein_coding	OTTHUMT00000056158.2	G	NM_002365		30164590	+1	no_errors	NM_002365	genbank	human	reviewed	54_36p	missense	SNP	0.632	T
RCN1	5954	genome.wustl.edu	37	11	31857259	31857259	+	Intron	SNP	C	C	A	rs75683248	byFrequency	TCGA-29-1711-01A-01W-0633-09	TCGA-29-1711-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	39ddd936-df31-4268-9b57-3e0fac1bc69b	72feb979-d793-4e9d-acd7-4b315ef6f80c	g.chr11:31857259C>A	ENST00000532942.1	+	1	256				RCN1_ENST00000506388.2_Intron			Q15293	RCN1_HUMAN	reticulocalbin 1, EF-hand calcium binding domain						camera-type eye development (GO:0043010)|in utero embryonic development (GO:0001701)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)	calcium ion binding (GO:0005509)			breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)	17	Lung SC(675;0.225)					tcccccttctccccctctctc	0.542													C|||	391	0.0780751	0.2769	0.0216	5008	,	,		17943	0.002		0.005	False		,,,				2504	0.0031															0			11																																								31813835	SO:0001627	intron_variant	0			D42073	CCDS7876.1	11p13	2013-01-10			ENSG00000049449	ENSG00000049449		"""EF-hand domain containing"""	9934	protein-coding gene	gene with protein product	"""proliferation-inducing gene 20"""	602735		RCN		9192846, 8586628	Standard	NM_002901		Approved	Rcal, PIG20, FLJ37041	uc010reb.2	Q15293		ENST00000532942.1:c.101+19072C>A	11.37:g.31857259C>A			31813835	B7Z1M1|D3DR00	RNA	SNP	-	NULL	ENST00000532942.1	37	NULL		11																																																																																			-	-		0.542	RCN1-001	PUTATIVE	basic	protein_coding	ENSG00000209612	protein_coding	OTTHUMT00000388507.1	C	NM_002901		31813835	+1	pseudogene	ENST00000386877	ensembl	human	novel	54_36p	rna	SNP	0.002	A
NOTCH4	4855	genome.wustl.edu	37	6	32180354	32180354	+	Nonsense_Mutation	SNP	G	G	T			TCGA-29-1711-01A-01W-0633-09	TCGA-29-1711-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	39ddd936-df31-4268-9b57-3e0fac1bc69b	72feb979-d793-4e9d-acd7-4b315ef6f80c	g.chr6:32180354G>T	ENST00000375023.3	-	17	2715	c.2577C>A	c.(2575-2577)tgC>tgA	p.C859*	NOTCH4_ENST00000465528.1_5'UTR	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	859	EGF-like 22. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						CAGTCTGGAGGCAGTGGGAAT	0.612																																																0			6											152.0	127.0	136.0					6																	32180354		1510	2709	4219	32288332	SO:0001587	stop_gained	4855				CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"""Ankyrin repeat domain containing"""	7884	protein-coding gene	gene with protein product		164951	"""Notch (Drosophila) homolog 4"", ""Notch homolog 4 (Drosophila)"""	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.2577C>A	6.37:g.32180354G>T	ENSP00000364163:p.Cys859*		32288332	B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Nonsense_Mutation	SNP	HMMSmart_SM00181,HMMPfam_EGF,HMMSmart_SM00179,superfamily_EGF/Laminin,PatternScan_EGF_1,PatternScan_EGF_2,PatternScan_EGF_CA,HMMPfam_EGF_CA,PatternScan_ASX_HYDROXYL,superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00004,HMMPfam_Notch,superfamily_Notch domain,HMMPfam_NODP,superfamily_Ankyrin repeat,HMMPfam_Ank,HMMSmart_SM00248	p.C859*	ENST00000375023.3	37	c.2577	CCDS34420.1	6	.	.	.	.	.	.	.	.	.	.	G	40	8.214350	0.98709	.	.	ENSG00000204301	ENST00000375023	.	.	.	4.35	4.35	0.52113	.	0.000000	0.46758	D	0.000264	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.7234	0.69326	0.0:0.0:1.0:0.0	.	.	.	.	X	859	.	ENSP00000364163:C859X	C	-	3	2	NOTCH4	32288332	1.000000	0.71417	1.000000	0.80357	0.592000	0.36648	5.225000	0.65294	2.421000	0.82119	0.561000	0.74099	TGC	-	HMMSmart_SM00179,superfamily_EGF/Laminin,HMMSmart_SM00181,HMMPfam_EGF		0.612	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH4	protein_coding	OTTHUMT00000076045.2	G			32288332	-1	no_errors	NM_004557	genbank	human	reviewed	54_36p	nonsense	SNP	0.946	T
RASGRP3	25780	genome.wustl.edu	37	2	33783899	33783899	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1711-01A-01W-0633-09	TCGA-29-1711-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	39ddd936-df31-4268-9b57-3e0fac1bc69b	72feb979-d793-4e9d-acd7-4b315ef6f80c	g.chr2:33783899G>C	ENST00000403687.3	+	17	2606	c.1866G>C	c.(1864-1866)gaG>gaC	p.E622D	AC020594.5_ENST00000437680.1_RNA|RASGRP3_ENST00000407811.1_Missense_Mutation_p.E621D|RASGRP3_ENST00000402538.3_Missense_Mutation_p.E622D	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	622					MAPK cascade (GO:0000165)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)	guanyl-nucleotide exchange factor complex (GO:0032045)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|guanyl-nucleotide exchange factor activity (GO:0005085)|Rap GTPase activator activity (GO:0046582)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					TCTGGTCAGAGGCTGGCTGGG	0.547																																																0			2											57.0	58.0	58.0					2																	33783899		1864	4110	5974	33637403	SO:0001583	missense	25780			AB020653	CCDS46256.1, CCDS54346.1	2p25.1-p24.1	2013-01-10			ENSG00000152689	ENSG00000152689		"""EF-hand domain containing"""	14545	protein-coding gene	gene with protein product		609531				10048485, 10934204	Standard	NM_170672		Approved	KIAA0846, GRP3	uc002roy.3	Q8IV61	OTTHUMG00000152124	ENST00000403687.3:c.1866G>C	2.37:g.33783899G>C	ENSP00000384192:p.Glu622Asp		33637403	D6W583|O94931|Q53SD7	Missense_Mutation	SNP	HMMSmart_SM00229,superfamily_Ras GEF,HMMPfam_RasGEF_N,HMMPfam_RasGEF,HMMSmart_SM00147,superfamily_EF-hand,HMMSmart_SM00054,HMMPfam_efhand,PatternScan_EF_HAND_1,superfamily_Cysteine-rich domain,HMMSmart_SM00109,PatternScan_ZF_DAG_PE_1,HMMPfam_C1_1	p.E622D	ENST00000403687.3	37	c.1866	CCDS46256.1	2	.	.	.	.	.	.	.	.	.	.	G	10.39	1.336151	0.24253	.	.	ENSG00000152689	ENST00000402538;ENST00000403687;ENST00000407811	T;T;T	0.78246	-1.16;-1.16;-1.16	5.59	1.85	0.25348	.	0.056133	0.64402	D	0.000002	T	0.51058	0.1652	N	0.08118	0	0.36122	D	0.845539	B;B	0.14012	0.009;0.009	B;B	0.10450	0.005;0.005	T	0.30592	-0.9973	10	0.13853	T	0.58	-18.986	5.5568	0.17121	0.2691:0.0:0.605:0.1259	.	621;622	D6W583;Q8IV61	.;GRP3_HUMAN	D	622;622;621	ENSP00000385886:E622D;ENSP00000384192:E622D;ENSP00000383917:E621D	ENSP00000385886:E622D	E	+	3	2	RASGRP3	33637403	0.994000	0.37717	0.998000	0.56505	0.983000	0.72400	0.256000	0.18351	0.060000	0.16281	-0.157000	0.13467	GAG	-	NULL		0.547	RASGRP3-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	RASGRP3	protein_coding	OTTHUMT00000325462.2	G	NM_015376		33637403	+1	no_errors	NM_170672	genbank	human	validated	54_36p	missense	SNP	1.000	C
CDK12	51755	genome.wustl.edu	37	17	37646836	37646836	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1711-01A-01W-0633-09	TCGA-29-1711-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	39ddd936-df31-4268-9b57-3e0fac1bc69b	72feb979-d793-4e9d-acd7-4b315ef6f80c	g.chr17:37646836C>T	ENST00000447079.4	+	3	1991	c.1958C>T	c.(1957-1959)cCt>cTt	p.P653L	CDK12_ENST00000430627.2_Missense_Mutation_p.P653L	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	653					mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						CCTTCAAAACCTGTGAAGAAA	0.398			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)																													Rec	yes		17	17q12	51755	cyclin-dependent kinase 12		E	0			17											55.0	50.0	52.0					17																	37646836		2203	4300	6503	34900362	SO:0001583	missense	51755			AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"""Cyclin-dependent kinases"""	24224	protein-coding gene	gene with protein product	"""CDC2 related protein kinase 7"""	615514	"""Cdc2-related kinase, arginine/serine-rich"""	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.1958C>T	17.37:g.37646836C>T	ENSP00000398880:p.Pro653Leu		34900362	A7E2B2|B4DYX4|B9EIQ6|O94978	Missense_Mutation	SNP	superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST	p.P653L	ENST00000447079.4	37	c.1958	CCDS11337.1	17	.	.	.	.	.	.	.	.	.	.	C	14.42	2.529397	0.44969	.	.	ENSG00000167258	ENST00000430627;ENST00000447079	T;T	0.72615	-0.65;-0.67	5.15	5.15	0.70609	.	0.000000	0.44483	D	0.000453	T	0.64271	0.2583	L	0.44542	1.39	0.46028	D	0.998826	B;B;B	0.10296	0.002;0.002;0.003	B;B;B	0.11329	0.001;0.002;0.006	T	0.63180	-0.6695	10	0.66056	D	0.02	-7.2637	13.9124	0.63876	0.0:0.8474:0.1526:0.0	.	652;653;653	E7EUM9;Q9NYV4;Q9NYV4-2	.;CDK12_HUMAN;.	L	653	ENSP00000407720:P653L;ENSP00000398880:P653L	ENSP00000407720:P653L	P	+	2	0	CDK12	34900362	1.000000	0.71417	0.995000	0.50966	0.525000	0.34531	1.556000	0.36288	2.416000	0.81992	0.655000	0.94253	CCT	-	NULL		0.398	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CRKRS	protein_coding	OTTHUMT00000256941.4	C	NM_016507		34900362	+1	no_errors	NM_016507	genbank	human	validated	54_36p	missense	SNP	0.997	T
KRTAP4-2	85291	genome.wustl.edu	37	17	39334314	39334314	+	Missense_Mutation	SNP	A	A	T	rs200720939		TCGA-29-1711-01A-01W-0633-09	TCGA-29-1711-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	39ddd936-df31-4268-9b57-3e0fac1bc69b	72feb979-d793-4e9d-acd7-4b315ef6f80c	g.chr17:39334314A>T	ENST00000377726.2	-	1	146	c.103T>A	c.(103-105)Tgc>Agc	p.C35S		NM_033062.3	NP_149051	Q9BYR5	KRA42_HUMAN	keratin associated protein 4-2	35	20 X 5 AA repeats OF C-C-[GRQVS]-[SPT]- [VSTQ].					keratin filament (GO:0045095)				kidney(2)|lung(4)|upper_aerodigestive_tract(1)	7		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			GGGCGGCAGCAGGTGGTCCTG	0.657																																																0			17											48.0	52.0	50.0					17																	39334314		2199	4289	6488	36587840	SO:0001583	missense	85291			AJ406934	CCDS11384.1	17q21.2	2013-06-25			ENSG00000244537	ENSG00000244537		"""Keratin associated proteins"""	18900	protein-coding gene	gene with protein product						11279113	Standard	NM_033062		Approved	KAP4.2	uc002hwd.3	Q9BYR5	OTTHUMG00000133437	ENST00000377726.2:c.103T>A	17.37:g.39334314A>T	ENSP00000366955:p.Cys35Ser		36587840	A0JP64	Missense_Mutation	SNP	HMMPfam_Keratin_B2	p.C35S	ENST00000377726.2	37	c.103	CCDS11384.1	17	.	.	.	.	.	.	.	.	.	.	.	9.002	0.980423	0.18812	.	.	ENSG00000244537	ENST00000377726;ENST00000458321	T	0.02085	4.46	4.24	4.24	0.50183	.	0.212644	0.23275	U	0.049980	T	0.10035	0.0246	H	0.95402	3.665	0.32423	N	0.54916	B	0.33883	0.43	B	0.40602	0.334	T	0.00912	-1.1517	10	0.49607	T	0.09	.	11.5905	0.50943	1.0:0.0:0.0:0.0	.	35	Q9BYR5	KRA42_HUMAN	S	35;152	ENSP00000366955:C35S	ENSP00000366955:C35S	C	-	1	0	KRTAP4-2	36587840	0.997000	0.39634	0.987000	0.45799	0.045000	0.14185	4.092000	0.57707	1.667000	0.50832	0.421000	0.28195	TGC	-	HMMPfam_Keratin_B2		0.657	KRTAP4-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP4-2	protein_coding	OTTHUMT00000257305.1	A			36587840	-1	no_errors	NM_033062	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
STRC	161497	genome.wustl.edu	37	15	43909843	43909843	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1711-01A-01W-0633-09	TCGA-29-1711-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	39ddd936-df31-4268-9b57-3e0fac1bc69b	72feb979-d793-4e9d-acd7-4b315ef6f80c	g.chr15:43909843G>A	ENST00000450892.2	-	2	853	c.776C>T	c.(775-777)aCt>aTt	p.T259I	STRC_ENST00000541030.1_5'UTR	NM_153700.2	NP_714544.1	Q7RTU9	STRC_HUMAN	stereocilin	259					auditory receptor cell stereocilium organization (GO:0060088)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	kinocilium (GO:0060091)|stereocilium bundle tip (GO:0032426)				skin(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		CAGGGAGTGAGTGACACGGAG	0.632																																																0			15											1.0	1.0	1.0					15																	43909843		297	944	1241	41697135	SO:0001583	missense	161497			BK000138	CCDS10098.1	15q15.3	2010-02-26			ENSG00000242866	ENSG00000242866			16035	protein-coding gene	gene with protein product		606440		DFNB16		11687802, 9429146	Standard	NM_153700		Approved		uc001zsf.3	Q7RTU9	OTTHUMG00000059899	ENST00000450892.2:c.776C>T	15.37:g.43909843G>A	ENSP00000401513:p.Thr259Ile		41697135		Missense_Mutation	SNP	NULL	p.T259I	ENST00000450892.2	37	c.776	CCDS10098.1	15	.	.	.	.	.	.	.	.	.	.	G	18.98	3.737650	0.69304	.	.	ENSG00000242866	ENST00000450892;ENST00000299992;ENST00000456110;ENST00000432436	T	0.80738	-1.41	5.05	4.13	0.48395	.	0.000000	0.64402	D	0.000004	D	0.82678	0.5089	L	0.32530	0.975	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.76575	0.988;0.98	D	0.83744	0.0205	10	0.87932	D	0	-9.8642	10.5665	0.45175	0.0937:0.0:0.9063:0.0	.	259;259	E9PBT5;Q7RTU9	.;STRC_HUMAN	I	259;259;259;199	ENSP00000401513:T259I	ENSP00000299992:T259I	T	-	2	0	STRC	41697135	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	4.225000	0.58600	2.370000	0.80446	0.632000	0.83419	ACT	-	NULL		0.632	STRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STRC	protein_coding	OTTHUMT00000133140.1	G	NM_153700		41697135	-1	no_errors	NM_153700	genbank	human	reviewed	54_36p	missense	SNP	0.992	A
GABRA4	2557	genome.wustl.edu	37	4	46994893	46994893	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1711-01A-01W-0633-09	TCGA-29-1711-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	39ddd936-df31-4268-9b57-3e0fac1bc69b	72feb979-d793-4e9d-acd7-4b315ef6f80c	g.chr4:46994893C>G	ENST00000264318.3	-	2	1139	c.157G>C	c.(157-159)Gac>Cac	p.D53H	GABRA4_ENST00000509316.1_5'UTR	NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	53					central nervous system development (GO:0007417)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|regulation of response to drug (GO:2001023)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	AGCAAACTGTCCAGGATGCGG	0.488																																					Ovarian(6;283 369 8234 12290 33402)											0			4											148.0	136.0	140.0					4																	46994893		2203	4300	6503	46689650	SO:0001583	missense	2557				CCDS3473.1	4p12	2012-06-22			ENSG00000109158	ENSG00000109158		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4078	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 4"""	137141				7607683	Standard	NM_000809		Approved		uc021xnz.1	P48169	OTTHUMG00000099431	ENST00000264318.3:c.157G>C	4.37:g.46994893C>G	ENSP00000264318:p.Asp53His		46689650	Q8IYR7	Missense_Mutation	SNP	superfamily_Neur_chan_LBD,HMMPfam_Neur_chan_LBD,PatternScan_NEUROTR_ION_CHANNEL,superfamily_Neu_channel_TM,HMMPfam_Neur_chan_memb	p.D53H	ENST00000264318.3	37	c.157	CCDS3473.1	4	.	.	.	.	.	.	.	.	.	.	C	14.38	2.517019	0.44763	.	.	ENSG00000109158	ENST00000264318	T	0.79141	-1.24	5.46	5.46	0.80206	Neurotransmitter-gated ion-channel ligand-binding (3);	0.051920	0.85682	D	0.000000	D	0.89760	0.6808	M	0.89904	3.07	0.52099	D	0.99994	D	0.89917	1.0	D	0.77004	0.989	D	0.91547	0.5254	10	0.87932	D	0	.	14.7935	0.69860	0.0:1.0:0.0:0.0	.	53	P48169	GBRA4_HUMAN	H	53	ENSP00000264318:D53H	ENSP00000264318:D53H	D	-	1	0	GABRA4	46689650	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.509000	0.45459	2.561000	0.86390	0.460000	0.39030	GAC	-	superfamily_Neur_chan_LBD,HMMPfam_Neur_chan_LBD		0.488	GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRA4	protein_coding	OTTHUMT00000216893.1	C			46689650	-1	no_errors	NM_000809	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
GPR116	221395	genome.wustl.edu	37	6	46824641	46824641	+	Missense_Mutation	SNP	A	A	G			TCGA-29-1711-01A-01W-0633-09	TCGA-29-1711-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	39ddd936-df31-4268-9b57-3e0fac1bc69b	72feb979-d793-4e9d-acd7-4b315ef6f80c	g.chr6:46824641A>G	ENST00000283296.7	-	18	4067	c.3779T>C	c.(3778-3780)tTa>tCa	p.L1260S	GPR116_ENST00000456426.2_Missense_Mutation_p.L1118S|GPR116_ENST00000545669.1_Missense_Mutation_p.L689S|GPR116_ENST00000362015.4_Missense_Mutation_p.L1260S|GPR116_ENST00000265417.7_Missense_Mutation_p.L1260S	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	1260					energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			TAAAATGAATAATCCCTGAGA	0.353																																					NSCLC(59;410 1274 8751 36715 50546)											0			6											49.0	48.0	49.0					6																	46824641		2203	4300	6503	46932600	SO:0001583	missense	221395			AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.3779T>C	6.37:g.46824641A>G	ENSP00000283296:p.Leu1260Ser		46932600	O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Missense_Mutation	SNP	PatternScan_EGF_2,superfamily_SEA domain,HMMPfam_SEA,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig,HMMPfam_GPS,HMMSmart_SM00303,HMMPfam_7tm_2,PatternScan_G_PROTEIN_RECEP_F2_2	p.L1260S	ENST00000283296.7	37	c.3779	CCDS4919.1	6	.	.	.	.	.	.	.	.	.	.	A	22.3	4.270342	0.80469	.	.	ENSG00000069122	ENST00000452370;ENST00000283296;ENST00000362015;ENST00000456426;ENST00000545557;ENST00000265417;ENST00000545669	T;T;T;T;T	0.53206	0.63;0.63;0.63;0.63;0.63	5.56	5.56	0.83823	GPCR, family 2-like (1);GPCR, family 2, secretin-like, conserved site (1);	0.000000	0.44097	D	0.000500	T	0.62196	0.2408	M	0.71296	2.17	0.41184	D	0.986252	D;D;D;D;D	0.89917	0.999;1.0;1.0;0.999;1.0	D;D;D;D;D	0.97110	0.988;0.996;1.0;0.991;1.0	T	0.67628	-0.5622	10	0.87932	D	0	-17.1955	16.0193	0.80468	1.0:0.0:0.0:0.0	.	689;815;1260;1118;1260	F5GWK9;B4DTV3;E9PBS6;Q8IZF2-3;Q8IZF2	.;.;.;.;GP116_HUMAN	S	1260;1260;1260;1118;631;1260;689	ENSP00000283296:L1260S;ENSP00000354563:L1260S;ENSP00000412866:L1118S;ENSP00000265417:L1260S;ENSP00000441581:L689S	ENSP00000265417:L1260S	L	-	2	0	GPR116	46932600	1.000000	0.71417	0.997000	0.53966	0.980000	0.70556	7.726000	0.84824	2.241000	0.73720	0.528000	0.53228	TTA	-	HMMPfam_7tm_2,PatternScan_G_PROTEIN_RECEP_F2_2		0.353	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR116	protein_coding	OTTHUMT00000040806.2	A	NM_015234		46932600	-1	no_errors	NM_001098518	genbank	human	validated	54_36p	missense	SNP	0.593	G
KRT3	3850	genome.wustl.edu	37	12	53186499	53186499	+	Missense_Mutation	SNP	T	T	C			TCGA-29-1711-01A-01W-0633-09	TCGA-29-1711-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	39ddd936-df31-4268-9b57-3e0fac1bc69b	72feb979-d793-4e9d-acd7-4b315ef6f80c	g.chr12:53186499T>C	ENST00000417996.2	-	4	1093	c.1019A>G	c.(1018-1020)gAc>gGc	p.D340G	KRT3_ENST00000309505.3_Missense_Mutation_p.D340G	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	340	Coil 1B.|Rod.				epithelial cell differentiation (GO:0030855)|intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						CCTTACAGCGTCGTAGAGGGT	0.473																																																0			12											168.0	168.0	168.0					12																	53186499		2070	4243	6313	51472766	SO:0001583	missense	3850				CCDS44895.1	12q13.13	2013-01-16			ENSG00000186442	ENSG00000186442		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6440	protein-coding gene	gene with protein product	"""keratin, type II cytoskeletal 3"", ""cytokeratin 3"""	148043				7510223, 16831889	Standard	NM_057088		Approved	CK3, K3	uc001say.3	P12035	OTTHUMG00000169799	ENST00000417996.2:c.1019A>G	12.37:g.53186499T>C	ENSP00000413479:p.Asp340Gly		51472766	A6NIS2|Q701L8	Missense_Mutation	SNP	HMMPfam_Filament,superfamily_Prefoldin,PatternScan_IF	p.D340G	ENST00000417996.2	37	c.1019	CCDS44895.1	12	.	.	.	.	.	.	.	.	.	.	T	13.86	2.363104	0.41902	.	.	ENSG00000186442	ENST00000417996;ENST00000309505	D;D	0.97772	-4.53;-4.53	4.39	3.2	0.36748	Filament (1);	0.000000	0.47455	D	0.000230	D	0.98340	0.9449	M	0.90252	3.1	0.40643	D	0.981962	D	0.61697	0.99	P	0.57720	0.826	D	0.98570	1.0645	10	0.87932	D	0	.	10.3019	0.43656	0.0:0.0:0.3186:0.6814	.	340	P12035	K2C3_HUMAN	G	340	ENSP00000413479:D340G;ENSP00000312206:D340G	ENSP00000312206:D340G	D	-	2	0	KRT3	51472766	0.971000	0.33674	0.115000	0.21578	0.223000	0.24884	2.601000	0.46249	0.802000	0.34089	0.402000	0.26972	GAC	-	HMMPfam_Filament,superfamily_Prefoldin		0.473	KRT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KRT3	protein_coding	OTTHUMT00000405930.1	T	NM_057088		51472766	-1	no_errors	NM_057088	genbank	human	reviewed	54_36p	missense	SNP	0.981	C
AMHR2	269	genome.wustl.edu	37	12	53818632	53818632	+	Silent	SNP	T	T	G			TCGA-29-1711-01A-01W-0633-09	TCGA-29-1711-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	39ddd936-df31-4268-9b57-3e0fac1bc69b	72feb979-d793-4e9d-acd7-4b315ef6f80c	g.chr12:53818632T>G	ENST00000257863.4	+	3	452	c.372T>G	c.(370-372)ccT>ccG	p.P124P	AMHR2_ENST00000550311.1_Silent_p.P124P|AMHR2_ENST00000379791.3_Silent_p.P124P	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II	124					Mullerian duct regression (GO:0001880)|negative regulation of anti-Mullerian hormone signaling pathway (GO:1902613)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	integral component of plasma membrane (GO:0005887)	anti-Mullerian hormone receptor activity (GO:1990272)|ATP binding (GO:0005524)|hormone binding (GO:0042562)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta receptor activity, type II (GO:0005026)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	GCCATCTGCCTCCTCCAGGGA	0.647																																																0			12											88.0	90.0	89.0					12																	53818632		2203	4300	6503	52104899	SO:0001819	synonymous_variant	269			AF172932	CCDS8858.1, CCDS53798.1, CCDS55829.1	12q13	2013-03-14							465	protein-coding gene	gene with protein product	"""Muellerian inhibiting substance type II receptor"""	600956				7493017	Standard	NM_001164690		Approved	MISR2, MISRII	uc001scx.2	Q16671	OTTHUMG00000170048	ENST00000257863.4:c.372T>G	12.37:g.53818632T>G			52104899	A0AVE1|B9EGB7|E9PGD2|F8W1D2|Q13762|Q647K2	Silent	SNP	superfamily_Snake toxin-like,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMPfam_Pkinase,HMMSmart_SM00220	p.P124	ENST00000257863.4	37	c.372	CCDS8858.1	12																																																																																			-	superfamily_Snake toxin-like		0.647	AMHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMHR2	protein_coding	OTTHUMT00000407048.1	T	NM_020547		52104899	+1	no_errors	NM_020547	genbank	human	validated	54_36p	silent	SNP	0.993	G
SMC1A	8243	genome.wustl.edu	37	X	53409161	53409161	+	Silent	SNP	G	G	T			TCGA-29-1711-01A-01W-0633-09	TCGA-29-1711-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	39ddd936-df31-4268-9b57-3e0fac1bc69b	72feb979-d793-4e9d-acd7-4b315ef6f80c	g.chrX:53409161G>T	ENST00000322213.4	-	22	3556	c.3429C>A	c.(3427-3429)gcC>gcA	p.A1143A	SMC1A_ENST00000469129.1_5'UTR	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	1143	Ala/Asp-rich (DA-box).				DNA repair (GO:0006281)|gene expression (GO:0010467)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid cohesion (GO:0007064)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA endoreduplication (GO:0032876)|response to radiation (GO:0009314)|RNA splicing (GO:0008380)|signal transduction in response to DNA damage (GO:0042770)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin core heterodimer (GO:0008280)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|meiotic cohesin complex (GO:0030893)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						ACCTGTGGATGGCAAAGAGCA	0.577																																																0			X											64.0	49.0	54.0					X																	53409161		2203	4300	6503	53425886	SO:0001819	synonymous_variant	8243			S78271	CCDS14352.1, CCDS75985.1	Xp11.22-p11.21	2014-09-17	2006-07-06	2006-07-06	ENSG00000072501	ENSG00000072501		"""Structural maintenance of chromosomes proteins"""	11111	protein-coding gene	gene with protein product		300040	"""SMC1 (structural maintenance of chromosomes 1, yeast)-like 1"", ""SMC1 structural maintenance of chromosomes 1-like 1 (yeast)"""	SMC1L1		7757074	Standard	NM_006306		Approved	DXS423E, KIAA0178, SB1.8, Smcb	uc004dsg.3	Q14683	OTTHUMG00000021614	ENST00000322213.4:c.3429C>A	X.37:g.53409161G>T			53425886	O14995|Q16351|Q2M228	Silent	SNP	HMMPfam_SMC_N,superfamily_SSF52540,superfamily_SMC_hinge,HMMPfam_SMC_hinge	p.A1143	ENST00000322213.4	37	c.3429	CCDS14352.1	X																																																																																			-	HMMPfam_SMC_N,superfamily_SSF52540		0.577	SMC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMC1A	protein_coding	OTTHUMT00000056756.2	G	NM_006306		53425886	-1	no_errors	NM_006306	genbank	human	reviewed	54_36p	silent	SNP	1.000	T
TEAD2	8463	genome.wustl.edu	37	19	49860524	49860524	+	Silent	SNP	G	G	T			TCGA-29-1711-01A-01W-0633-09	TCGA-29-1711-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	39ddd936-df31-4268-9b57-3e0fac1bc69b	72feb979-d793-4e9d-acd7-4b315ef6f80c	g.chr19:49860524G>T	ENST00000311227.2	-	4	435	c.345C>A	c.(343-345)atC>atA	p.I115I	TEAD2_ENST00000593945.1_Silent_p.I115I|TEAD2_ENST00000601519.1_Silent_p.I115I|TEAD2_ENST00000598810.1_Silent_p.I115I|AC010524.4_ENST00000596488.1_RNA|TEAD2_ENST00000377214.4_Silent_p.I115I|TEAD2_ENST00000598397.1_5'Flank|TEAD2_ENST00000539846.1_5'UTR	NM_001256659.1|NM_003598.1	NP_001243588.1|NP_003589.1	Q15562	TEAD2_HUMAN	TEA domain family member 2	115					gene expression (GO:0010467)|hippo signaling (GO:0035329)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	29		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)		ACTTGGACTGGATTTCCCTTG	0.557																																																0			19											153.0	112.0	126.0					19																	49860524		2203	4300	6503	54552336	SO:0001819	synonymous_variant	8463			X94440	CCDS12761.1, CCDS58670.1, CCDS58671.1, CCDS59406.1	19q13.3	2008-07-22							11715	protein-coding gene	gene with protein product		601729				9889009, 8702974	Standard	NM_003598		Approved	TEF-4, ETF, TEF4	uc031rls.1	Q15562		ENST00000311227.2:c.345C>A	19.37:g.49860524G>T			54552336	B4DTJ6|M0R1T9|Q8NA25|Q96IG3	Silent	SNP	HMMPfam_TEA,HMMSmart_TEA,PatternScan_TEA_1	p.I115	ENST00000311227.2	37	c.345	CCDS12761.1	19																																																																																			-	HMMPfam_TEA		0.557	TEAD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TEAD2	protein_coding	OTTHUMT00000465465.1	G	NM_003598		54552336	-1	no_errors	NM_003598	genbank	human	provisional	54_36p	silent	SNP	0.982	T
AL354984.1	0	genome.wustl.edu	37	20	56494089	56494089	+	RNA	SNP	T	T	C			TCGA-29-1711-01A-01W-0633-09	TCGA-29-1711-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	39ddd936-df31-4268-9b57-3e0fac1bc69b	72feb979-d793-4e9d-acd7-4b315ef6f80c	g.chr20:56494089T>C	ENST00000408080.1	+	0	150																											catcctgtattttatctggcc	0.378																																																0			20																																								55927495			0																															20.37:g.56494089T>C			55927495		RNA	SNP	-	NULL	ENST00000408080.1	37	NULL		20																																																																																			-	-		0.378	AL354984.1-201	NOVEL	basic	miRNA	ENSG00000221007	miRNA		T			55927495	+1	no_errors	ENST00000408080	ensembl	human	novel	54_36p	rna	SNP	0.006	C
FPR3	2359	genome.wustl.edu	37	19	52327932	52327932	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1711-01A-01W-0633-09	TCGA-29-1711-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	39ddd936-df31-4268-9b57-3e0fac1bc69b	72feb979-d793-4e9d-acd7-4b315ef6f80c	g.chr19:52327932G>A	ENST00000339223.4	+	2	1110	c.931G>A	c.(931-933)Gaa>Aaa	p.E311K	FPR3_ENST00000595991.1_Missense_Mutation_p.E311K	NM_002030.3	NP_002021.3	P25089	FPR3_HUMAN	formyl peptide receptor 3	311					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	N-formyl peptide receptor activity (GO:0004982)			NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						TAACTTCCAAGAAAGACTGAT	0.488																																																0			19											120.0	114.0	116.0					19																	52327932		2203	4300	6503	57019744	SO:0001583	missense	2359				CCDS12841.1	19q13.3-q13.4	2012-08-08	2008-04-17	2008-04-17		ENSG00000187474		"""GPCR / Class A : Formyl peptide receptors"""	3828	protein-coding gene	gene with protein product		136539	"""formyl peptide receptor-like 2"""	FPRL2		1612600, 8198572	Standard	NM_002030		Approved	FPRH1, FMLPY, RMLP-R-I	uc002pxt.1	P25089		ENST00000339223.4:c.931G>A	19.37:g.52327932G>A	ENSP00000341821:p.Glu311Lys		57019744		Missense_Mutation	SNP	superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.E311K	ENST00000339223.4	37	c.931	CCDS12841.1	19	.	.	.	.	.	.	.	.	.	.	.	7.182	0.589853	0.13812	.	.	ENSG00000187474	ENST00000339223	T	0.35236	1.32	2.34	-3.48	0.04739	.	0.370250	0.24695	N	0.036348	T	0.25195	0.0612	L	0.54965	1.715	0.09310	N	0.999997	B	0.27656	0.184	B	0.27262	0.078	T	0.23226	-1.0194	10	0.21540	T	0.41	.	7.7022	0.28630	0.6263:0.0:0.3737:0.0	.	311	P25089	FPR3_HUMAN	K	311	ENSP00000341821:E311K	ENSP00000341821:E311K	E	+	1	0	FPR3	57019744	0.997000	0.39634	0.009000	0.14445	0.256000	0.26092	0.386000	0.20702	-0.902000	0.03886	0.305000	0.20034	GAA	-	superfamily_Family A G protein-coupled receptor-like		0.488	FPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FPR3	protein_coding	OTTHUMT00000466914.1	G	NM_002030		57019744	+1	no_errors	NM_002030	genbank	human	validated	54_36p	missense	SNP	0.992	A
DNAH12	201625	genome.wustl.edu	37	3	57488057	57488057	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1711-01A-01W-0633-09	TCGA-29-1711-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	39ddd936-df31-4268-9b57-3e0fac1bc69b	72feb979-d793-4e9d-acd7-4b315ef6f80c	g.chr3:57488057C>G	ENST00000351747.2	-	10	1416	c.1236G>C	c.(1234-1236)gaG>gaC	p.E412D	DNAH12_ENST00000389536.4_Missense_Mutation_p.E412D|DNAH12_ENST00000311202.6_Missense_Mutation_p.E412D	NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	412	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						CACCATATGTCTCATAATGCT	0.398																																																0			3											258.0	224.0	236.0					3																	57488057		2203	4300	6503	57463097	SO:0001583	missense	375347			U53532, AK126276	CCDS33771.1	3p21.1	2009-02-04	2006-09-04		ENSG00000174844	ENSG00000174844		"""Axonemal dyneins"""	2943	protein-coding gene	gene with protein product		603340	"""dynein, axonemal, heavy polypeptide 12"", ""dynein heavy chain domain 2"", ""dynein heavy domain 2"", ""dynein, axonemal, heavy chain 12-like"", ""dynein, axonemal, heavy chain 7-like"""	DNHD2, DNAH12L, DNAH7L		8812413, 8666668	Standard	NM_198564		Approved	DLP12, Dnahc3, HL-19, hdhc3, DHC3, FLJ40427, FLJ44290	uc003dit.2	Q6ZR08	OTTHUMG00000158598	ENST00000351747.2:c.1236G>C	3.37:g.57488057C>G	ENSP00000295937:p.Glu412Asp		57463097	A6NGI2|Q6ZTR8|Q8N7R9|Q8WXK2|Q92816	Missense_Mutation	SNP	NULL	p.E412D	ENST00000351747.2	37	c.1236		3	.	.	.	.	.	.	.	.	.	.	C	10.71	1.426887	0.25726	.	.	ENSG00000174844	ENST00000351747;ENST00000495027;ENST00000389536;ENST00000311202	T;T;T;T	0.22743	2.08;1.94;3.57;3.04	5.34	2.34	0.29019	.	0.298609	0.31210	N	0.008050	T	0.10380	0.0254	L	0.28740	0.885	0.80722	D	1	B;B	0.12013	0.005;0.001	B;B	0.15484	0.013;0.001	T	0.16424	-1.0403	10	0.12766	T	0.61	.	1.5206	0.02514	0.2495:0.4241:0.1453:0.1811	.	412;412	Q6ZR08-4;Q6ZR08	.;DYH12_HUMAN	D	412	ENSP00000295937:E412D;ENSP00000418137:E412D;ENSP00000374187:E412D;ENSP00000312554:E412D	ENSP00000312554:E412D	E	-	3	2	DNAH12	57463097	0.005000	0.15991	0.994000	0.49952	0.747000	0.42532	-0.076000	0.11412	0.705000	0.31890	0.655000	0.94253	GAG	-	NULL		0.398	DNAH12-202	KNOWN	basic|appris_principal	protein_coding	DNAH12L	protein_coding		C	NM_178504		57463097	-1	no_errors	ENST00000311202	ensembl	human	known	54_36p	missense	SNP	0.839	G
ANK3	288	genome.wustl.edu	37	10	61834066	61834066	+	Silent	SNP	A	A	T			TCGA-29-1711-01A-01W-0633-09	TCGA-29-1711-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	39ddd936-df31-4268-9b57-3e0fac1bc69b	72feb979-d793-4e9d-acd7-4b315ef6f80c	g.chr10:61834066A>T	ENST00000280772.2	-	37	6764	c.6573T>A	c.(6571-6573)ccT>ccA	p.P2191P	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2191					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TAGGTGACACAGGCTCCTCTG	0.443																																																0			10											114.0	115.0	115.0					10																	61834066		2203	4300	6503	61504072	SO:0001819	synonymous_variant	288			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.6573T>A	10.37:g.61834066A>T			61504072	B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Silent	SNP	superfamily_ANK,HMMPfam_Ank,HMMSmart_ANK,HMMPfam_ZU5,HMMSmart_ZU5,superfamily_DEATH_like,HMMSmart_DEATH,HMMPfam_Death	p.P2191	ENST00000280772.2	37	c.6573	CCDS7258.1	10																																																																																			-	NULL		0.443	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANK3	protein_coding	OTTHUMT00000048201.4	A	NM_020987		61504072	-1	no_errors	NM_020987	genbank	human	reviewed	54_36p	silent	SNP	0.012	T
SYNE2	23224	genome.wustl.edu	37	14	64457203	64457203	+	Silent	SNP	A	A	G			TCGA-29-1711-01A-01W-0633-09	TCGA-29-1711-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	39ddd936-df31-4268-9b57-3e0fac1bc69b	72feb979-d793-4e9d-acd7-4b315ef6f80c	g.chr14:64457203A>G	ENST00000344113.4	+	20	2600	c.2388A>G	c.(2386-2388)caA>caG	p.Q796Q	SYNE2_ENST00000358025.3_Silent_p.Q796Q|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Silent_p.Q796Q	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	796					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TGGATATACAAAATATTTCAA	0.358																																																0			14											106.0	103.0	104.0					14																	64457203		1838	4100	5938	63526956	SO:0001819	synonymous_variant	23224			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.2388A>G	14.37:g.64457203A>G			63526956	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Silent	SNP	superfamily_Calponin-homology,HMMPfam_CH,PatternScan_ACTININ_1,HMMSmart_CH,PatternScan_ACTININ_2,superfamily_Spectrin,HMMSmart_SPEC,HMMPfam_Spectrin,superfamily_4_helix_cytokine,HMMPfam_KASH	p.Q796	ENST00000344113.4	37	c.2388	CCDS41963.1	14																																																																																			-	NULL		0.358	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	protein_coding	OTTHUMT00000276994.2	A	NM_182914		63526956	+1	no_errors	NM_182914	genbank	human	validated	54_36p	silent	SNP	0.012	G
ABCA5	23461	genome.wustl.edu	37	17	67250520	67250520	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1711-01A-01W-0633-09	TCGA-29-1711-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	39ddd936-df31-4268-9b57-3e0fac1bc69b	72feb979-d793-4e9d-acd7-4b315ef6f80c	g.chr17:67250520G>C	ENST00000392676.3	-	32	4244	c.4180C>G	c.(4180-4182)Cat>Gat	p.H1394D	ABCA5_ENST00000588877.1_Missense_Mutation_p.H1394D|ABCA5_ENST00000392677.2_Missense_Mutation_p.H1395D			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	1394	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cholesterol efflux (GO:0033344)|high-density lipoprotein particle remodeling (GO:0034375)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|reverse cholesterol transport (GO:0043691)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)				Tacrolimus(DB00864)	ATTTCAAAATGTTCCTGCAAT	0.358																																																0			17											132.0	128.0	130.0					17																	67250520		2203	4300	6503	64762115	SO:0001583	missense	23461			U66672	CCDS11685.1	17q24.3	2012-03-14			ENSG00000154265	ENSG00000154265		"""ATP binding cassette transporters / subfamily A"""	35	protein-coding gene	gene with protein product		612503				8894702	Standard	NM_172232		Approved	EST90625	uc002jig.2	Q8WWZ7		ENST00000392676.3:c.4180C>G	17.37:g.67250520G>C	ENSP00000376443:p.His1394Asp		64762115	Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Missense_Mutation	SNP	superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_ABC_tran,PatternScan_ABC_TRANSPORTER_1	p.H1394D	ENST00000392676.3	37	c.4180	CCDS11685.1	17	.	.	.	.	.	.	.	.	.	.	G	31	5.089218	0.94100	.	.	ENSG00000154265	ENST00000392677;ENST00000392676	D;D	0.93488	-3.23;-3.23	5.98	5.98	0.97165	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.64402	D	0.000002	D	0.97901	0.9310	H	0.94542	3.55	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98119	1.0424	10	0.72032	D	0.01	.	20.4434	0.99119	0.0:0.0:1.0:0.0	.	1394	Q8WWZ7	ABCA5_HUMAN	D	1395;1394	ENSP00000376444:H1395D;ENSP00000376443:H1394D	ENSP00000376443:H1394D	H	-	1	0	ABCA5	64762115	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.926000	0.92839	2.838000	0.97847	0.655000	0.94253	CAT	-	superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_ABC_tran		0.358	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ABCA5	protein_coding	OTTHUMT00000450654.1	G	NM_018672		64762115	-1	no_errors	NM_018672	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
CD300LF	146722	genome.wustl.edu	37	17	72699276	72699276	+	Intron	SNP	G	G	A			TCGA-29-1711-01A-01W-0633-09	TCGA-29-1711-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	39ddd936-df31-4268-9b57-3e0fac1bc69b	72feb979-d793-4e9d-acd7-4b315ef6f80c	g.chr17:72699276G>A	ENST00000326165.6	-	3	494				CD300LF_ENST00000361254.4_Missense_Mutation_p.T133I|CD300LF_ENST00000469092.1_Intron|CD300LF_ENST00000301573.9_Intron|RAB37_ENST00000340415.3_Intron|RAB37_ENST00000402449.4_Intron|CD300LF_ENST00000581500.1_Missense_Mutation_p.T133I|CD300LF_ENST00000583937.1_Missense_Mutation_p.T130I|CD300LF_ENST00000464910.1_Intron|CD300LF_ENST00000343125.4_Intron	NM_139018.3	NP_620587.2	Q8TDQ1	CLM1_HUMAN	CD300 molecule-like family member f						immune system process (GO:0002376)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|large_intestine(1)|lung(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						GGGGGCAGGAGTCGACGCTGT	0.597																																																0			17											159.0	129.0	139.0					17																	72699276		2203	4300	6503	70210871	SO:0001627	intron_variant	146722			BC028199	CCDS11704.1, CCDS74148.1, CCDS74149.1, CCDS74150.1, CCDS74151.1, CCDS74152.1	17q25.2	2013-01-11	2006-03-29		ENSG00000186074	ENSG00000186074		"""Immunoglobulin superfamily / V-set domain containing"""	29883	protein-coding gene	gene with protein product		609807	"""CD300 antigen like family member F"""			12975309	Standard	NM_139018		Approved	IREM1, NKIR, IGSF13, CD300f, CLM1	uc002jlg.3	Q8TDQ1	OTTHUMG00000067609	ENST00000326165.6:c.383-39C>T	17.37:g.72699276G>A			70210871	B2RCL2|C9JDN3|Q3Y6P0|Q6UX24|Q7Z6A6|Q7Z7I4|Q7Z7I5|Q8N6D0|Q8NAF5	Missense_Mutation	SNP	HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409	p.T133I	ENST00000326165.6	37	c.398	CCDS11704.1	17	.	.	.	.	.	.	.	.	.	.	G	13.95	2.390027	0.42410	.	.	ENSG00000186074	ENST00000361254	T	0.04360	3.64	4.67	3.68	0.42216	.	.	.	.	.	T	0.16642	0.0400	.	.	.	0.22811	N	0.998706	D;D	0.89917	0.999;1.0	D;D	0.75020	0.953;0.985	T	0.03221	-1.1059	7	.	.	.	.	10.9011	0.47051	0.0:0.19:0.81:0.0	.	130;133	E7EME0;Q8TDQ1-2	.;.	I	133	ENSP00000355294:T133I	.	T	-	2	0	CD300LF	70210871	0.579000	0.26725	0.036000	0.18154	0.010000	0.07245	3.856000	0.55964	1.312000	0.45043	0.563000	0.77884	ACT	-	NULL		0.597	CD300LF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CD300LF	protein_coding	OTTHUMT00000145085.1	G	NM_139018		70210871	-1	no_errors	ENST00000361254	ensembl	human	known	54_36p	missense	SNP	0.006	A
NODAL	4838	genome.wustl.edu	37	10	72195388	72195388	+	Missense_Mutation	SNP	G	G	A	rs143239895	byFrequency	TCGA-29-1711-01A-01W-0633-09	TCGA-29-1711-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	39ddd936-df31-4268-9b57-3e0fac1bc69b	72feb979-d793-4e9d-acd7-4b315ef6f80c	g.chr10:72195388G>A	ENST00000287139.3	-	2	544	c.545C>T	c.(544-546)cCg>cTg	p.P182L	AC022532.1_ENST00000420338.2_Missense_Mutation_p.R112Q	NM_018055.4	NP_060525.3	Q96S42	NODAL_HUMAN	nodal growth differentiation factor	182					axial mesodermal cell fate specification (GO:0048327)|brain development (GO:0007420)|cell migration involved in gastrulation (GO:0042074)|digestive tract morphogenesis (GO:0048546)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic pattern specification (GO:0009880)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|endodermal cell differentiation (GO:0035987)|epiblast cell-extraembryonic ectoderm cell signaling involved in anterior/posterior axis specification (GO:0060802)|floor plate morphogenesis (GO:0033505)|formation of anatomical boundary (GO:0048859)|growth (GO:0040007)|heart looping (GO:0001947)|inhibition of neuroepithelial cell differentiation (GO:0002085)|left lung morphogenesis (GO:0060460)|liver development (GO:0001889)|maternal placenta development (GO:0001893)|maternal process involved in parturition (GO:0060137)|mesendoderm development (GO:0048382)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of chorionic trophoblast cell proliferation (GO:1901383)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of trophoblast cell migration (GO:1901164)|neural fold formation (GO:0001842)|nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900164)|placenta development (GO:0001890)|polarity specification of proximal/distal axis (GO:0010085)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900224)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of gastrulation (GO:0010470)|regulation of stem cell maintenance (GO:2000036)|SMAD protein signal transduction (GO:0060395)|stem cell maintenance (GO:0019827)|transforming growth factor beta receptor signaling pathway involved in primitive streak formation (GO:0090010)|trophectodermal cellular morphogenesis (GO:0001831)|vasculature development (GO:0001944)	extracellular space (GO:0005615)	morphogen activity (GO:0016015)|type I activin receptor binding (GO:0070698)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2)	15						GGGGGGCCGCGGCCAGCACTC	0.632													G|||	8	0.00159744	0.0061	0.0	5008	,	,		17416	0.0		0.0	False		,,,				2504	0.0															0			10						G	LEU/PRO	11,4395	14.3+/-33.2	0,11,2192	31.0	33.0	33.0		545	-11.8	0.0	10	dbSNP_134	33	0,8600		0,0,4300	yes	missense	NODAL	NM_018055.4	98	0,11,6492	AA,AG,GG		0.0,0.2497,0.0846	benign	182/348	72195388	11,12995	2203	4300	6503	71865394	SO:0001583	missense	4838			BC033585	CCDS7304.1	10q22.1	2012-12-07	2012-12-07		ENSG00000156574	ENSG00000156574			7865	protein-coding gene	gene with protein product		601265	"""nodal, mouse, homolog"", ""nodal homolog (mouse)"""			9354794	Standard	NM_018055		Approved		uc001jrc.2	Q96S42	OTTHUMG00000018408	ENST00000287139.3:c.545C>T	10.37:g.72195388G>A	ENSP00000287139:p.Pro182Leu		71865394	Q2M3A5|Q8N4V3	Missense_Mutation	SNP	superfamily_SSF57501,HMMPfam_TGF_beta,HMMSmart_TGFB,PatternScan_TGF_BETA_1	p.P182L	ENST00000287139.3	37	c.545	CCDS7304.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.838|5.838	0.338904|0.338904	0.11069|0.11069	0.002497|0.002497	0.0|0.0	ENSG00000156574|ENSG00000197604	ENST00000287139;ENST00000414871|ENST00000420338	D;D|.	0.84516|.	-1.85;-1.86|.	5.88|5.88	-11.8|-11.8	0.00035|0.00035	.|.	1.767130|.	0.02086|.	N|.	0.052743|.	T|T	0.20373|0.20373	0.0490|0.0490	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B|.	0.06786|.	0.001|.	B|.	0.01281|.	0.0|.	T|T	0.56902|0.56902	-0.7902|-0.7902	9|6	.|0.87932	.|D	.|0	.|.	10.5967|10.5967	0.45343|0.45343	0.064:0.2635:0.5181:0.1544|0.064:0.2635:0.5181:0.1544	.|.	182|.	Q96S42|.	NODAL_HUMAN|.	L|Q	182;127|112	ENSP00000287139:P182L;ENSP00000394468:P127L|.	.|ENSP00000411125:R112Q	P|R	-|+	2|2	0|0	NODAL|AC022532.1	71865394|71865394	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.014000|0.014000	0.08584|0.08584	-3.122000|-3.122000	0.00594|0.00594	-3.780000|-3.780000	0.00108|0.00108	-2.193000|-2.193000	0.00311|0.00311	CCG|CGG	-	NULL		0.632	NODAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NODAL	protein_coding	OTTHUMT00000048511.1	G	NM_018055		71865394	-1	no_errors	NM_018055	genbank	human	reviewed	54_36p	missense	SNP	0.000	A
KLF5	688	genome.wustl.edu	37	13	73636135	73636135	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1711-01A-01W-0633-09	TCGA-29-1711-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	39ddd936-df31-4268-9b57-3e0fac1bc69b	72feb979-d793-4e9d-acd7-4b315ef6f80c	g.chr13:73636135G>T	ENST00000377687.4	+	2	934	c.398G>T	c.(397-399)aGt>aTt	p.S133I	KLF5_ENST00000477333.1_3'UTR|KLF5_ENST00000539231.1_Missense_Mutation_p.S42I	NM_001730.3	NP_001721.2	Q13887	KLF5_HUMAN	Kruppel-like factor 5 (intestinal)	133					angiogenesis (GO:0001525)|cellular response to organic cyclic compound (GO:0071407)|cellular response to peptide (GO:1901653)|intestinal epithelial cell development (GO:0060576)|microvillus assembly (GO:0030033)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of microvillus assembly (GO:0032534)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)		TTACCTTACAGTATCAACATG	0.463																																																0			13											203.0	179.0	187.0					13																	73636135		2203	4300	6503	72534136	SO:0001583	missense	688			D14520	CCDS9448.1, CCDS66562.1	13q21.3	2013-01-08			ENSG00000102554	ENSG00000102554		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	6349	protein-coding gene	gene with protein product		602903		BTEB2		8479902, 9973612	Standard	NM_001730		Approved	IKLF, CKLF	uc001vje.3	Q13887	OTTHUMG00000017074	ENST00000377687.4:c.398G>T	13.37:g.73636135G>T	ENSP00000366915:p.Ser133Ile		72534136	L0R3U5|L0R4T9|Q9UHP8	Missense_Mutation	SNP	superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1	p.S133I	ENST00000377687.4	37	c.398	CCDS9448.1	13	.	.	.	.	.	.	.	.	.	.	G	15.81	2.942613	0.53079	.	.	ENSG00000102554	ENST00000539231;ENST00000377687;ENST00000545883	T;T	0.10668	3.11;2.85	5.95	5.95	0.96441	.	0.073250	0.85682	D	0.000000	T	0.34019	0.0883	M	0.71036	2.16	0.58432	D	0.999998	D	0.69078	0.997	D	0.64237	0.923	T	0.00981	-1.1492	10	0.87932	D	0	.	20.3747	0.98911	0.0:0.0:1.0:0.0	.	133	Q13887	KLF5_HUMAN	I	42;133;113	ENSP00000440407:S42I;ENSP00000366915:S133I	ENSP00000366915:S133I	S	+	2	0	KLF5	72534136	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.301000	0.59086	2.817000	0.96982	0.563000	0.77884	AGT	-	NULL		0.463	KLF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLF5	protein_coding	OTTHUMT00000045263.1	G			72534136	+1	no_errors	NM_001730	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
EXOC6B	23233	genome.wustl.edu	37	2	72968579	72968579	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1711-01A-01W-0633-09	TCGA-29-1711-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	39ddd936-df31-4268-9b57-3e0fac1bc69b	72feb979-d793-4e9d-acd7-4b315ef6f80c	g.chr2:72968579C>G	ENST00000272427.6	-	2	263	c.133G>C	c.(133-135)Gaa>Caa	p.E45Q	EXOC6B_ENST00000410104.1_Missense_Mutation_p.E45Q	NM_015189.1	NP_056004.1	Q9Y2D4	EXC6B_HUMAN	exocyst complex component 6B	45					protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	exocyst (GO:0000145)				breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	10						CGTCCATGTTCTTCACCATCA	0.363																																																0			2											95.0	89.0	91.0					2																	72968579		1828	4078	5906	72822087	SO:0001583	missense	23233			AB023136	CCDS46333.1	2p13.2	2013-01-22	2006-11-07	2006-11-07	ENSG00000144036	ENSG00000144036			17085	protein-coding gene	gene with protein product		607880	"""SEC15-like 2 (S. cerevisiae)"", ""SEC15 homolog B (S. cerevisiae)"""	SEC15L2, SEC15B		10231032, 11406615	Standard	NM_015189		Approved	KIAA0919	uc010fep.3	Q9Y2D4	OTTHUMG00000152723	ENST00000272427.6:c.133G>C	2.37:g.72968579C>G	ENSP00000272427:p.Glu45Gln		72822087	B8ZZY3	Missense_Mutation	SNP	HMMPfam_Sec15	p.E45Q	ENST00000272427.6	37	c.133	CCDS46333.1	2	.	.	.	.	.	.	.	.	.	.	C	18.06	3.539818	0.65085	.	.	ENSG00000144036	ENST00000272427;ENST00000410104;ENST00000290144	T;T	0.30448	1.53;1.53	5.15	5.15	0.70609	.	0.058083	0.64402	D	0.000003	T	0.27454	0.0674	L	0.45581	1.43	0.58432	D	0.999999	P;B	0.41673	0.759;0.053	B;B	0.37833	0.259;0.061	T	0.04811	-1.0925	10	0.13108	T	0.6	.	17.2198	0.86954	0.0:1.0:0.0:0.0	.	45;45	Q9Y2D4;Q9Y2D4-2	EXC6B_HUMAN;.	Q	45	ENSP00000272427:E45Q;ENSP00000386698:E45Q	ENSP00000272427:E45Q	E	-	1	0	EXOC6B	72822087	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	7.729000	0.84864	2.389000	0.81357	0.561000	0.74099	GAA	-	NULL		0.363	EXOC6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOC6B	protein_coding	OTTHUMT00000327558.1	C	XM_039570		72822087	-1	no_errors	NM_015189	genbank	human	validated	54_36p	missense	SNP	1.000	G
DNAH17	8632	genome.wustl.edu	37	17	76497301	76497301	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1711-01A-01W-0633-09	TCGA-29-1711-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	39ddd936-df31-4268-9b57-3e0fac1bc69b	72feb979-d793-4e9d-acd7-4b315ef6f80c	g.chr17:76497301G>T	ENST00000585328.1	-	35	5557	c.5433C>A	c.(5431-5433)aaC>aaA	p.N1811K	DNAH17_ENST00000389840.5_Missense_Mutation_p.N1802K|DNAH17-AS1_ENST00000598378.1_3'UTR|RP11-559N14.5_ENST00000591373.1_RNA	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	1802	AAA 1. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GCCGCGGCGTGTTGCCCAGAT	0.577																																																0			17											102.0	113.0	109.0					17																	76497301		2176	4288	6464	74008896	SO:0001583	missense	8632			AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.5433C>A	17.37:g.76497301G>T	ENSP00000465516:p.Asn1811Lys		74008896	O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	HMMPfam_DHC_N1,superfamily_Spectrin repeat,HMMPfam_DHC_N2,superfamily_P-loop containing nucleoside triphosphate hydrolases,PatternScan_THIOL_PROTEASE_HIS,HMMPfam_AAA_5,PatternScan_WD_REPEATS_1,HMMPfam_Dynein_heavy	p.N1811K	ENST00000585328.1	37	c.5433		17	.	.	.	.	.	.	.	.	.	.	G	18.38	3.611803	0.66558	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.12774	2.65	4.24	2.19	0.27852	.	.	.	.	.	T	0.39410	0.1077	M	0.93898	3.47	0.37104	D	0.900029	.	.	.	.	.	.	T	0.53041	-0.8494	7	0.72032	D	0.01	.	8.6857	0.34236	0.2542:0.0:0.7458:0.0	.	.	.	.	K	1811;1802	ENSP00000374490:N1802K	ENSP00000300671:N1811K	N	-	3	2	DNAH17	74008896	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.909000	0.56363	0.905000	0.36596	0.448000	0.29417	AAC	-	NULL		0.577	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	DNAH17	protein_coding	OTTHUMT00000318962.2	G	NM_173628		74008896	-1	no_errors	ENST00000300671	ensembl	human	known	54_36p	missense	SNP	1.000	T
Unknown	0	genome.wustl.edu	37	6	80775056	80775056	+	IGR	SNP	A	A	C			TCGA-29-1711-01A-01W-0633-09	TCGA-29-1711-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	39ddd936-df31-4268-9b57-3e0fac1bc69b	72feb979-d793-4e9d-acd7-4b315ef6f80c	g.chr6:80775056A>C								TTK (22812 upstream) : BCKDHB (41307 downstream)																							CGCGGATTGCACCTCAGGGCT	0.557																																																0			6																																								80831775	SO:0001628	intergenic_variant	643562																															6.37:g.80775056A>C			80831775		RNA	SNP	-	NULL		37	NULL		6																																																																																			-	-	0	0.557					LOC643562			A			80831775	-1	pseudogene	XR_016539	genbank	human	model	54_36p	rna	SNP	1.000	C
ADAMTSL3	57188	genome.wustl.edu	37	15	84652000	84652000	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1711-01A-01W-0633-09	TCGA-29-1711-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	39ddd936-df31-4268-9b57-3e0fac1bc69b	72feb979-d793-4e9d-acd7-4b315ef6f80c	g.chr15:84652000G>T	ENST00000286744.5	+	21	3844	c.3620G>T	c.(3619-3621)aGg>aTg	p.R1207M	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.R1207M	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1207	Ig-like C2-type 2.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			ATTACAAAAAGGACAGAGGTC	0.403																																																0			15											115.0	123.0	120.0					15																	84652000		2203	4300	6503	82443004	SO:0001583	missense	57188			AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.3620G>T	15.37:g.84652000G>T	ENSP00000286744:p.Arg1207Met		82443004	A1A566|A1A567|Q9ULI7	Missense_Mutation	SNP	superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,HMMPfam_I-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig,HMMPfam_PLAC	p.R1207M	ENST00000286744.5	37	c.3620	CCDS10326.1	15	.	.	.	.	.	.	.	.	.	.	G	14.86	2.661135	0.47572	.	.	ENSG00000156218	ENST00000286744	T	0.72394	-0.65	5.43	2.43	0.29744	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.364672	0.20057	N	0.100168	T	0.72195	0.3430	M	0.62723	1.935	0.09310	N	1	P;P	0.49253	0.824;0.921	P;P	0.52267	0.694;0.645	T	0.62015	-0.6943	10	0.46703	T	0.11	.	7.6018	0.28079	0.5094:0.0:0.4906:0.0	.	1207;1207	P82987-2;P82987	.;ATL3_HUMAN	M	1207	ENSP00000286744:R1207M	ENSP00000286744:R1207M	R	+	2	0	ADAMTSL3	82443004	0.995000	0.38212	0.005000	0.12908	0.991000	0.79684	0.779000	0.26746	0.215000	0.20761	0.557000	0.71058	AGG	-	superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408		0.403	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTSL3	protein_coding	OTTHUMT00000304007.2	G	NM_207517		82443004	+1	no_errors	NM_207517	genbank	human	validated	54_36p	missense	SNP	0.004	T
MMRN2	79812	genome.wustl.edu	37	10	88703729	88703729	+	Missense_Mutation	SNP	T	T	C			TCGA-29-1711-01A-01W-0633-09	TCGA-29-1711-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	39ddd936-df31-4268-9b57-3e0fac1bc69b	72feb979-d793-4e9d-acd7-4b315ef6f80c	g.chr10:88703729T>C	ENST00000372027.5	-	6	1133	c.812A>G	c.(811-813)cAg>cGg	p.Q271R	MMRN2_ENST00000488950.1_5'UTR	NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN	multimerin 2	271					angiogenesis (GO:0001525)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						GGAGATGGCCTGGCGGTTGGC	0.567																																																0			10											65.0	60.0	62.0					10																	88703729		2203	4300	6503	88693709	SO:0001583	missense	79812			AK023527	CCDS7379.1	10q23.31	2004-03-10	2004-03-02	2004-03-02	ENSG00000173269	ENSG00000173269		"""EMI domain containing"""	19888	protein-coding gene	gene with protein product		608925	"""elastin microfibril interfacer 3"""	EMILIN3		11559704	Standard	NM_024756		Approved	EndoGlyx-1, FLJ13465	uc001kea.3	Q9H8L6	OTTHUMG00000018663	ENST00000372027.5:c.812A>G	10.37:g.88703729T>C	ENSP00000361097:p.Gln271Arg		88693709	Q504V7|Q6P2N2	Missense_Mutation	SNP	HMMPfam_EMI,HMMSmart_SM00110,superfamily_TNF-like,HMMPfam_C1q	p.Q271R	ENST00000372027.5	37	c.812	CCDS7379.1	10	.	.	.	.	.	.	.	.	.	.	T	4.494	0.091535	0.08632	.	.	ENSG00000173269	ENST00000372027	T	0.15139	2.45	5.19	1.52	0.23074	.	0.570478	0.16808	N	0.198696	T	0.12689	0.0308	L	0.36672	1.1	0.09310	N	1	B;B	0.10296	0.002;0.003	B;B	0.04013	0.001;0.001	T	0.21690	-1.0238	10	0.39692	T	0.17	-23.2148	8.7927	0.34861	0.0:0.3002:0.0:0.6998	.	210;271	B4E3H8;Q9H8L6	.;MMRN2_HUMAN	R	271	ENSP00000361097:Q271R	ENSP00000361097:Q271R	Q	-	2	0	MMRN2	88693709	0.970000	0.33590	0.804000	0.32291	0.224000	0.24922	0.533000	0.23082	0.277000	0.22141	0.459000	0.35465	CAG	-	NULL		0.567	MMRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMRN2	protein_coding	OTTHUMT00000049179.2	T	NM_024756		88693709	-1	no_errors	NM_024756	genbank	human	validated	54_36p	missense	SNP	0.001	C
COL15A1	1306	genome.wustl.edu	37	9	101778391	101778391	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1711-01A-01W-0633-09	TCGA-29-1711-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	39ddd936-df31-4268-9b57-3e0fac1bc69b	72feb979-d793-4e9d-acd7-4b315ef6f80c	g.chr9:101778391G>C	ENST00000375001.3	+	11	2060	c.1637G>C	c.(1636-1638)tGg>tCg	p.W546S		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	546	4 X tandem repeats.|Nonhelical region 1 (NC1).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				CCTGAAAGATGGATCACTCCA	0.592																																																0			9											37.0	38.0	38.0					9																	101778391		2203	4300	6503	100818212	SO:0001583	missense	1306			L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2192	protein-coding gene	gene with protein product	"""collagen type XV proteoglycan"""	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.1637G>C	9.37:g.101778391G>C	ENSP00000364140:p.Trp546Ser		100818212	Q5T6J4|Q9UDC5|Q9Y4W4	Missense_Mutation	SNP	superfamily_ConA_like_lec_gl,HMMSmart_TSPN,HMMSmart_LamG,HMMPfam_Laminin_G_2,HMMPfam_Collagen,superfamily_C-type_lectin_fold,HMMPfam_Endostatin	p.W546S	ENST00000375001.3	37	c.1637	CCDS35081.1	9	.	.	.	.	.	.	.	.	.	.	G	2.141	-0.396770	0.04899	.	.	ENSG00000204291	ENST00000375001;ENST00000536083	D	0.88509	-2.39	3.94	-7.88	0.01178	.	15.785400	0.00424	N	0.000066	T	0.70098	0.3185	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.69235	-0.5198	10	0.06365	T	0.9	21.1486	4.394	0.11355	0.1066:0.5209:0.1404:0.2321	.	546	P39059	COFA1_HUMAN	S	546;516	ENSP00000364140:W546S	ENSP00000364140:W546S	W	+	2	0	COL15A1	100818212	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.649000	0.01993	-1.968000	0.01006	-0.868000	0.02995	TGG	-	NULL		0.592	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL15A1	protein_coding	OTTHUMT00000053386.3	G	NM_001855		100818212	+1	no_errors	NM_001855	genbank	human	reviewed	54_36p	missense	SNP	0.001	C
CNOT11	55571	genome.wustl.edu	37	2	101881465	101881465	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1711-01A-01W-0633-09	TCGA-29-1711-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	39ddd936-df31-4268-9b57-3e0fac1bc69b	72feb979-d793-4e9d-acd7-4b315ef6f80c	g.chr2:101881465G>T	ENST00000289382.3	+	4	1154	c.991G>T	c.(991-993)Gcc>Tcc	p.A331S		NM_017546.4	NP_060016.3	Q9UKZ1	CNO11_HUMAN	CCR4-NOT transcription complex, subunit 11	331					cell proliferation (GO:0008283)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|nucleus (GO:0005634)											ACGAATAATGGCCAAAGCCTT	0.398																																																0			2											107.0	101.0	103.0					2																	101881465		2203	4300	6503	101247897	SO:0001583	missense	55571			AF103798	CCDS2050.1	2q12.1	2013-01-24	2013-01-24	2013-01-24	ENSG00000158435	ENSG00000158435			25217	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 29"""	C2orf29		10497265, 23232451, 23303381	Standard	NM_017546		Approved	C40	uc002taw.4	Q9UKZ1	OTTHUMG00000130686	ENST00000289382.3:c.991G>T	2.37:g.101881465G>T	ENSP00000289382:p.Ala331Ser		101247897	Q6P2M9|Q8N681	Missense_Mutation	SNP	HMMPfam_DUF2363	p.A331S	ENST00000289382.3	37	c.991	CCDS2050.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.62|14.62	2.590351|2.590351	0.46214|0.46214	.|.	.|.	ENSG00000158435|ENSG00000158435	ENST00000289382|ENST00000420107	.|.	.|.	.|.	5.97|5.97	5.1|5.1	0.69264|0.69264	.|.	0.155351|.	0.56097|.	D|.	0.000026|.	T|T	0.53400|0.53400	0.1794|0.1794	L|L	0.27053|0.27053	0.805|0.805	0.80722|0.80722	D|D	1|1	B|.	0.22146|.	0.065|.	B|.	0.14023|.	0.01|.	T|T	0.49943|0.49943	-0.8885|-0.8885	9|5	0.21014|.	T|.	0.42|.	-19.674|-19.674	15.1719|15.1719	0.72881|0.72881	0.0674:0.0:0.9326:0.0|0.0674:0.0:0.9326:0.0	.|.	331|.	Q9UKZ1|.	CB029_HUMAN|.	S|V	331|10	.|.	ENSP00000289382:A331S|.	A|G	+|+	1|2	0|0	C2orf29|C2orf29	101247897|101247897	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	4.250000|4.250000	0.58772|0.58772	1.546000|1.546000	0.49388|0.49388	-0.136000|-0.136000	0.14681|0.14681	GCC|GGC	-	NULL		0.398	CNOT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf29	protein_coding	OTTHUMT00000253181.1	G	NM_017546		101247897	+1	no_errors	NM_017546	genbank	human	validated	54_36p	missense	SNP	1.000	T
RELN	5649	genome.wustl.edu	37	7	103234831	103234831	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1711-01A-01W-0633-09	TCGA-29-1711-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	39ddd936-df31-4268-9b57-3e0fac1bc69b	72feb979-d793-4e9d-acd7-4b315ef6f80c	g.chr7:103234831G>C	ENST00000428762.1	-	26	3807	c.3648C>G	c.(3646-3648)gaC>gaG	p.D1216E	RELN_ENST00000343529.5_Missense_Mutation_p.D1216E|RELN_ENST00000424685.2_Missense_Mutation_p.D1216E	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1216					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GAATGATGATGTCATCGACTG	0.512																																					NSCLC(146;835 1944 15585 22231 52158)											0			7											273.0	261.0	265.0					7																	103234831		2203	4300	6503	103022067	SO:0001583	missense	5649				CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.3648C>G	7.37:g.103234831G>C	ENSP00000392423:p.Asp1216Glu		103022067	A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	HMMPfam_Reeler,superfamily_SSF57196,HMMSmart_EGF,HMMPfam_EGF_2,PatternScan_EGF_1,PatternScan_EGF_2,superfamily_Sialidase	p.D1216E	ENST00000428762.1	37	c.3648	CCDS47680.1	7	.	.	.	.	.	.	.	.	.	.	G	18.75	3.689805	0.68271	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.27256	1.68;1.68;1.68	5.75	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.44726	0.1307	L	0.58428	1.81	0.44417	D	0.997335	P;D	0.64830	0.694;0.994	B;D	0.70716	0.425;0.97	T	0.39014	-0.9634	10	0.66056	D	0.02	.	11.2975	0.49286	0.1416:0.0:0.8584:0.0	.	1216;1216	P78509-2;P78509	.;RELN_HUMAN	E	1216	ENSP00000392423:D1216E;ENSP00000345694:D1216E;ENSP00000388446:D1216E	ENSP00000345694:D1216E	D	-	3	2	RELN	103022067	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	0.929000	0.28844	1.394000	0.46624	0.591000	0.81541	GAC	-	NULL		0.512	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RELN	protein_coding	OTTHUMT00000348148.1	G	NM_005045		103022067	-1	no_errors	NM_005045	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
KMT2E	55904	genome.wustl.edu	37	7	104747088	104747088	+	Missense_Mutation	SNP	A	A	C			TCGA-29-1711-01A-01W-0633-09	TCGA-29-1711-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	39ddd936-df31-4268-9b57-3e0fac1bc69b	72feb979-d793-4e9d-acd7-4b315ef6f80c	g.chr7:104747088A>C	ENST00000311117.3	+	20	3261	c.2716A>C	c.(2716-2718)Atg>Ctg	p.M906L	KMT2E_ENST00000257745.4_Missense_Mutation_p.M906L|CTB-152G17.6_ENST00000607968.1_RNA|KMT2E_ENST00000334877.4_Missense_Mutation_p.M906L|KMT2E_ENST00000334914.7_5'UTR	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	906					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)										TATTACTCCTATGGACCCATC	0.423																																																0			7											162.0	163.0	163.0					7																	104747088		2203	4300	6503	104534324	SO:0001583	missense	55904			AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	18541	protein-coding gene	gene with protein product		608444	"""myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"""	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.2716A>C	7.37:g.104747088A>C	ENSP00000312379:p.Met906Leu		104534324	B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Missense_Mutation	SNP	superfamily_FYVE/PHD zinc finger,HMMSmart_SM00249,HMMPfam_PHD,PatternScan_ZF_PHD_1,HMMPfam_SET,HMMSmart_SM00317,superfamily_SET domain	p.M906L	ENST00000311117.3	37	c.2716	CCDS34723.1	7	.	.	.	.	.	.	.	.	.	.	A	9.078	0.998578	0.19121	.	.	ENSG00000005483	ENST00000311117;ENST00000393656;ENST00000334877;ENST00000351043;ENST00000257745	D;D;D	0.90324	-2.65;-2.32;-2.65	5.34	0.2	0.15181	.	0.862304	0.10260	N	0.696075	T	0.77384	0.4122	N	0.14661	0.345	0.09310	N	0.999991	B	0.02656	0.0	B	0.01281	0.0	T	0.60855	-0.7180	10	0.26408	T	0.33	.	1.4679	0.02410	0.5176:0.1096:0.2201:0.1527	.	906	Q8IZD2	MLL5_HUMAN	L	906;906;906;826;906	ENSP00000312379:M906L;ENSP00000335599:M906L;ENSP00000257745:M906L	ENSP00000257745:M906L	M	+	1	0	MLL5	104534324	0.086000	0.21541	0.012000	0.15200	0.988000	0.76386	0.447000	0.21710	-0.197000	0.10350	-0.361000	0.07541	ATG	-	NULL		0.423	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL5	protein_coding	OTTHUMT00000348697.1	A			104534324	+1	no_errors	NM_018682	genbank	human	reviewed	54_36p	missense	SNP	0.582	C
TCP11L2	255394	genome.wustl.edu	37	12	106704901	106704901	+	Silent	SNP	C	C	T			TCGA-29-1711-01A-01W-0633-09	TCGA-29-1711-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	39ddd936-df31-4268-9b57-3e0fac1bc69b	72feb979-d793-4e9d-acd7-4b315ef6f80c	g.chr12:106704901C>T	ENST00000299045.3	+	2	222	c.48C>T	c.(46-48)agC>agT	p.S16S	TCP11L2_ENST00000547153.1_Silent_p.S16S|TCP11L2_ENST00000546625.1_Silent_p.S16S	NM_152772.1	NP_689985.1	Q8N4U5	T11L2_HUMAN	t-complex 11, testis-specific-like 2	16	Ser-rich.									endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2)	15						ACCAGCCAAGCGATTCTGATT	0.507																																																0			12											168.0	138.0	148.0					12																	106704901		2203	4300	6503	105229031	SO:0001819	synonymous_variant	255394			BC033617	CCDS9104.1, CCDS66456.1	12q23.3	2014-08-12	2012-09-20		ENSG00000166046	ENSG00000166046			28627	protein-coding gene	gene with protein product			"""t-complex 11 (mouse) like 2"", ""t-complex 11 (mouse)-like 2"""				Standard	XM_005268769		Approved	MGC40368	uc001tln.3	Q8N4U5	OTTHUMG00000170087	ENST00000299045.3:c.48C>T	12.37:g.106704901C>T			105229031	B2RA65|G3V1Y9	Silent	SNP	HMMPfam_Tcp11	p.S16	ENST00000299045.3	37	c.48	CCDS9104.1	12																																																																																			-	NULL		0.507	TCP11L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCP11L2	protein_coding	OTTHUMT00000407206.1	C	NM_152772		105229031	+1	no_errors	NM_152772	genbank	human	provisional	54_36p	silent	SNP	0.991	T
RGPD4	285190	genome.wustl.edu	37	2	108478071	108478071	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1711-01A-01W-0633-09	TCGA-29-1711-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	39ddd936-df31-4268-9b57-3e0fac1bc69b	72feb979-d793-4e9d-acd7-4b315ef6f80c	g.chr2:108478071G>A	ENST00000408999.3	+	15	2157	c.2080G>A	c.(2080-2082)Gac>Aac	p.D694N	RGPD4_ENST00000354986.4_Missense_Mutation_p.D694N	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	694					protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						GAAGGCAGAAGACATTGCAAA	0.358																																																0			2											78.0	62.0	67.0					2																	108478071		692	1591	2283	107844503	SO:0001583	missense	285190			BX537861	CCDS46381.1	2q12.3	2013-01-10			ENSG00000196862	ENSG00000196862		"""Tetratricopeptide (TTC) repeat domain containing"""	32417	protein-coding gene	gene with protein product		612707				15710750, 15815621	Standard	NM_182588		Approved	RGP4, DKFZp686P0288	uc010ywk.2	Q7Z3J3	OTTHUMG00000153208	ENST00000408999.3:c.2080G>A	2.37:g.108478071G>A	ENSP00000386810:p.Asp694Asn		107844503	B9A029	Missense_Mutation	SNP	superfamily_TPR-like,HMMPfam_TPR_1,HMMSmart_SM00028,superfamily_PH domain-like,HMMSmart_SM00160,HMMPfam_Ran_BP1,HMMPfam_GRIP,HMMSmart_SM00755	p.D694N	ENST00000408999.3	37	c.2080	CCDS46381.1	2	.	.	.	.	.	.	.	.	.	.	-	12.36	1.914088	0.33815	.	.	ENSG00000196862	ENST00000354986;ENST00000408999;ENST00000439322	T;T	0.31247	1.5;1.5	2.6	2.6	0.31112	.	.	.	.	.	T	0.31231	0.0790	L	0.57536	1.79	0.31469	N	0.668578	B	0.31893	0.345	B	0.32289	0.143	T	0.44283	-0.9338	9	0.66056	D	0.02	-6.8146	11.8656	0.52490	0.0:0.0:1.0:0.0	.	694	Q7Z3J3	RGPD4_HUMAN	N	694;694;452	ENSP00000347081:D694N;ENSP00000386810:D694N	ENSP00000347081:D694N	D	+	1	0	RGPD4	107844503	1.000000	0.71417	1.000000	0.80357	0.389000	0.30415	7.184000	0.77705	1.299000	0.44798	0.152000	0.16155	GAC	-	NULL		0.358	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	RGPD4	protein_coding	OTTHUMT00000330096.2	G	XM_496581		107844503	+1	no_errors	ENST00000354986	ensembl	human	known	54_36p	missense	SNP	1.000	A
PNPLA8	50640	genome.wustl.edu	37	7	108150755	108150755	+	Intron	SNP	C	C	A			TCGA-29-1711-01A-01W-0633-09	TCGA-29-1711-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	39ddd936-df31-4268-9b57-3e0fac1bc69b	72feb979-d793-4e9d-acd7-4b315ef6f80c	g.chr7:108150755C>A	ENST00000422087.1	-	5	1613				PNPLA8_ENST00000483879.1_Intron|PNPLA8_ENST00000257694.8_Intron|PNPLA8_ENST00000453144.1_Intron|PNPLA8_ENST00000388728.5_Intron|PNPLA8_ENST00000426128.2_Intron|PNPLA8_ENST00000436062.1_Intron	NM_015723.3	NP_056538.1	Q9NP80	PLPL8_HUMAN	patatin-like phospholipase domain containing 8						arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|cell death (GO:0008219)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|linoleic acid metabolic process (GO:0043651)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylcholine catabolic process (GO:0034638)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylethanolamine catabolic process (GO:0046338)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|calcium-independent phospholipase A2 activity (GO:0047499)|lysophospholipase activity (GO:0004622)			breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						TTTCTCAGAGCTGAAGATGAA	0.448																																																0			7																																								107937991	SO:0001627	intron_variant	0			AF217519	CCDS34733.1, CCDS59075.1, CCDS59508.1	7q31	2012-07-31			ENSG00000135241	ENSG00000135241		"""Patatin-like phospholipase domain containing"""	28900	protein-coding gene	gene with protein product		612123				10744668, 10833412, 16799181, 19029121	Standard	NM_015723		Approved	IPLA2G, IPLA2-2, iPLA2gamma	uc003vfj.2	Q9NP80	OTTHUMG00000154870	ENST00000422087.1:c.1206+3832G>T	7.37:g.108150755C>A			107937991	A4D0S1|C9JZI4|O95035|Q8N3I3|Q9H7T5|Q9NR17|Q9NUN2|Q9NZ79	Missense_Mutation	SNP	HMMPfam_Ribosomal_L30_N,HMMPfam_Ribosomal_L30,superfamily_Ribosomal_L30,PatternScan_RIBOSOMAL_L30	p.L27M	ENST00000422087.1	37	c.79	CCDS34733.1	7																																																																																			-	HMMPfam_Ribosomal_L30_N		0.448	PNPLA8-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LOC100130892	protein_coding	OTTHUMT00000337475.1	C	NM_015723		107937991	+1	pseudogene	XM_001725978	genbank	human	model	54_36p	missense	SNP	0.849	A
SLC5A7	60482	genome.wustl.edu	37	2	108625091	108625091	+	Missense_Mutation	SNP	A	A	C			TCGA-29-1711-01A-01W-0633-09	TCGA-29-1711-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	39ddd936-df31-4268-9b57-3e0fac1bc69b	72feb979-d793-4e9d-acd7-4b315ef6f80c	g.chr2:108625091A>C	ENST00000264047.2	+	8	1342	c.1066A>C	c.(1066-1068)Agt>Cgt	p.S356R	SLC5A7_ENST00000409059.1_Missense_Mutation_p.S356R|SLC5A7_ENST00000540517.1_Missense_Mutation_p.S251R	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	356					acetylcholine biosynthetic process (GO:0008292)|cell death (GO:0008219)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	choline binding (GO:0033265)|choline transmembrane transporter activity (GO:0015220)|choline:sodium symporter activity (GO:0005307)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	CTTGTCAGCAAGTTCCATGTT	0.418																																																0			2											154.0	132.0	139.0					2																	108625091		2203	4300	6503	107991523	SO:0001583	missense	60482			AF276871	CCDS2074.1	2q12	2013-07-19	2013-07-19		ENSG00000115665	ENSG00000115665		"""Solute carriers"""	14025	protein-coding gene	gene with protein product		608761	"""solute carrier family 5 (choline transporter), member 7"""			11027560	Standard	NM_021815		Approved	hCHT, CHT1	uc002tdv.3	Q9GZV3	OTTHUMG00000130959	ENST00000264047.2:c.1066A>C	2.37:g.108625091A>C	ENSP00000264047:p.Ser356Arg		107991523	Q53TF2	Missense_Mutation	SNP	PatternScan_NA_SOLUT_SYMP_1,PatternScan_NA_SOLUT_SYMP_2,HMMPfam_SSF	p.S356R	ENST00000264047.2	37	c.1066	CCDS2074.1	2	.	.	.	.	.	.	.	.	.	.	A	23.7	4.448861	0.84101	.	.	ENSG00000115665	ENST00000409059;ENST00000540517;ENST00000264047	D;D;D	0.92699	-3.09;-3.09;-3.09	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.96436	0.8837	M	0.87827	2.91	0.80722	D	1	D	0.71674	0.998	D	0.79108	0.992	D	0.97124	0.9813	10	0.87932	D	0	-20.7126	15.938	0.79729	1.0:0.0:0.0:0.0	.	356	Q9GZV3	SC5A7_HUMAN	R	356;251;356	ENSP00000387346:S356R;ENSP00000445351:S251R;ENSP00000264047:S356R	ENSP00000264047:S356R	S	+	1	0	SLC5A7	107991523	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.277000	0.78572	2.222000	0.72286	0.533000	0.62120	AGT	-	HMMPfam_SSF		0.418	SLC5A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A7	protein_coding	OTTHUMT00000253562.1	A			107991523	+1	no_errors	NM_021815	genbank	human	provisional	54_36p	missense	SNP	1.000	C
ACSL4	2182	genome.wustl.edu	37	X	108902671	108902671	+	Silent	SNP	T	T	C			TCGA-29-1711-01A-01W-0633-09	TCGA-29-1711-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	39ddd936-df31-4268-9b57-3e0fac1bc69b	72feb979-d793-4e9d-acd7-4b315ef6f80c	g.chrX:108902671T>C	ENST00000469796.2	-	15	2286	c.1890A>G	c.(1888-1890)aaA>aaG	p.K630K	ACSL4_ENST00000340800.2_Silent_p.K630K|ACSL4_ENST00000348502.6_Silent_p.K589K			O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	630					cellular lipid metabolic process (GO:0044255)|dendritic spine development (GO:0060996)|embryonic process involved in female pregnancy (GO:0060136)|fatty acid transport (GO:0015908)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|negative regulation of prostaglandin secretion (GO:0032307)|positive regulation of cell growth (GO:0030307)|response to interleukin-15 (GO:0070672)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|ER-mitochondrion membrane contact site (GO:0044233)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|neuronal cell body (GO:0043025)|peroxisome (GO:0005777)	arachidonate-CoA ligase activity (GO:0047676)|ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Rosiglitazone(DB00412)	CTTCTACCCCTTTCTGTTGTG	0.363																																					Pancreas(188;358 2127 38547 41466 45492)											0			X											148.0	134.0	139.0					X																	108902671		2203	4300	6503	108789327	SO:0001819	synonymous_variant	2182			BC034959	CCDS14548.1, CCDS14549.1	Xq22.3-q23	2008-02-05	2004-02-19	2004-02-20	ENSG00000068366	ENSG00000068366		"""Acyl-CoA synthetase family"""	3571	protein-coding gene	gene with protein product	"""lignoceroyl-CoA synthase"", "" long-chain fatty-acid-Coenzyme A ligase 4"""	300157	"""fatty-acid-Coenzyme A ligase, long-chain 4"", ""mental retardation, X-linked 63"", ""mental retardation, X-linked 68"""	FACL4, MRX63, MRX68		9480748, 12949969	Standard	NM_022977		Approved	ACS4, LACS4	uc004eoi.2	O60488	OTTHUMG00000022190	ENST00000469796.2:c.1890A>G	X.37:g.108902671T>C			108789327	D3DUY2|O60848|O60849|Q5JWV8	Silent	SNP	superfamily_Acetyl-CoA synthetase-like,HMMPfam_AMP-binding,PatternScan_AMP_BINDING	p.K630	ENST00000469796.2	37	c.1890	CCDS14548.1	X																																																																																			-	superfamily_Acetyl-CoA synthetase-like		0.363	ACSL4-003	KNOWN	basic|CCDS	protein_coding	ACSL4	protein_coding	OTTHUMT00000358155.2	T	NM_004458		108789327	-1	no_errors	NM_022977	genbank	human	reviewed	54_36p	silent	SNP	0.992	C
MCF2L	23263	genome.wustl.edu	37	13	113738347	113738347	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1711-01A-01W-0633-09	TCGA-29-1711-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	39ddd936-df31-4268-9b57-3e0fac1bc69b	72feb979-d793-4e9d-acd7-4b315ef6f80c	g.chr13:113738347G>A	ENST00000375608.3	+	19	2175	c.2117G>A	c.(2116-2118)tGc>tAc	p.C706Y	MCF2L_ENST00000442652.2_Missense_Mutation_p.C706Y|MCF2L_ENST00000375597.4_Missense_Mutation_p.C674Y|MCF2L_ENST00000397030.1_Missense_Mutation_p.C709Y|MCF2L_ENST00000375604.2_Missense_Mutation_p.C733Y|MCF2L_ENST00000434480.2_Missense_Mutation_p.C682Y|MCF2L_ENST00000423482.2_Missense_Mutation_p.C674Y|MCF2L_ENST00000421756.1_Missense_Mutation_p.C680Y|MCF2L_ENST00000535094.2_Missense_Mutation_p.C676Y|MCF2L_ENST00000375601.3_Missense_Mutation_p.C680Y			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	706	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular space (GO:0005615)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				TACACTGACTGCCCAGAACTG	0.428																																																0			13											248.0	211.0	224.0					13																	113738347		2203	4300	6503	112786348	SO:0001583	missense	23263			AB002360	CCDS9527.2, CCDS45070.1, CCDS9527.3, CCDS45070.2	13q34	2013-01-10			ENSG00000126217	ENSG00000126217		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14576	protein-coding gene	gene with protein product		609499				9205841	Standard	NM_001112732		Approved	KIAA0362, DBS, OST, ARHGEF14	uc010tjr.2	O15068	OTTHUMG00000017377	ENST00000375608.3:c.2117G>A	13.37:g.113738347G>A	ENSP00000364758:p.Cys706Tyr		112786348	A2A2X1|A2A2X2|A2A3G6|A2A3G8|B4DHD6|B4DIL6|E9PDN8|Q5JU56|Q5VXT1|Q6ZWD4|Q765G8|Q765G9|Q8N679	Missense_Mutation	SNP	HMMSmart_SEC14,superfamily_Spectrin,HMMPfam_Spectrin,HMMSmart_SPEC,superfamily_DH-domain,HMMPfam_RhoGEF,HMMSmart_RhoGEF,PatternScan_DH_1,superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH	p.C674Y	ENST00000375608.3	37	c.2021		13	.	.	.	.	.	.	.	.	.	.	G	8.091	0.774590	0.16051	.	.	ENSG00000126217	ENST00000375608;ENST00000442652;ENST00000375604;ENST00000397030;ENST00000535094;ENST00000421756;ENST00000375601;ENST00000434480;ENST00000423482;ENST00000375597;ENST00000440749	T;T;T;T;T;T;T;T;T;T	0.40476	1.03;1.03;1.03;1.03;1.03;1.03;1.03;1.03;1.03;1.03	5.04	2.98	0.34508	Dbl homology (DH) domain (5);	0.107097	0.64402	D	0.000003	T	0.23532	0.0569	N	0.21508	0.67	0.40037	D	0.975605	B;B;B;B;B;B	0.15930	0.007;0.007;0.012;0.005;0.015;0.015	B;B;B;B;B;B	0.15484	0.005;0.005;0.007;0.006;0.011;0.013	T	0.12993	-1.0526	10	0.52906	T	0.07	.	2.3008	0.04162	0.2996:0.3216:0.3789:0.0	.	674;676;733;638;674;706	E9PDN8;O15068-9;G5E9A1;E2QRA2;O15068-4;O15068	.;.;.;.;.;MCF2L_HUMAN	Y	706;706;733;709;676;680;680;682;674;674;517	ENSP00000364758:C706Y;ENSP00000401422:C706Y;ENSP00000364754:C733Y;ENSP00000380225:C709Y;ENSP00000440374:C676Y;ENSP00000397285:C680Y;ENSP00000364751:C680Y;ENSP00000407722:C682Y;ENSP00000405639:C674Y;ENSP00000364747:C674Y	ENSP00000364747:C674Y	C	+	2	0	MCF2L	112786348	1.000000	0.71417	1.000000	0.80357	0.312000	0.27988	2.492000	0.45311	1.105000	0.41606	0.561000	0.74099	TGC	-	superfamily_DH-domain,HMMPfam_RhoGEF,HMMSmart_RhoGEF		0.428	MCF2L-001	KNOWN	basic	protein_coding	MCF2L	protein_coding	OTTHUMT00000045849.4	G			112786348	+1	no_errors	NM_024979	genbank	human	validated	54_36p	missense	SNP	1.000	A
KIAA1210	57481	genome.wustl.edu	37	X	118220699	118220699	+	Silent	SNP	G	G	A			TCGA-29-1711-01A-01W-0633-09	TCGA-29-1711-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	39ddd936-df31-4268-9b57-3e0fac1bc69b	72feb979-d793-4e9d-acd7-4b315ef6f80c	g.chrX:118220699G>A	ENST00000402510.2	-	11	4493	c.4494C>T	c.(4492-4494)acC>acT	p.T1498T		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1498										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						AAGCAAGCTGGGTGAAGTTAT	0.498																																																0			X											79.0	77.0	78.0					X																	118220699		1903	4114	6017	118104727	SO:0001819	synonymous_variant	57481			AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.4494C>T	X.37:g.118220699G>A			118104727	B7ZCI8|Q5JPN4	Silent	SNP	NULL	p.T1498	ENST00000402510.2	37	c.4494	CCDS48156.1	X	.	.	.	.	.	.	.	.	.	.	G	3.350	-0.132811	0.06711	.	.	ENSG00000248857	ENST00000440399	.	.	.	5.13	-2.44	0.06502	.	.	.	.	.	T	0.20941	0.0504	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.27297	-1.0078	4	.	.	.	.	3.7881	0.08709	0.4497:0.0:0.2646:0.2857	.	.	.	.	S	905	.	.	P	-	1	0	KIAA1210	118104727	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.772000	0.04694	-0.588000	0.05882	0.513000	0.50165	CCA	-	NULL		0.498	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1210	protein_coding	OTTHUMT00000371251.2	G	NM_020721		118104727	-1	no_errors	NM_020721	genbank	human	validated	54_36p	silent	SNP	0.000	A
WDYHV1	55093	genome.wustl.edu	37	8	124440176	124440176	+	Silent	SNP	T	T	A			TCGA-29-1711-01A-01W-0633-09	TCGA-29-1711-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	39ddd936-df31-4268-9b57-3e0fac1bc69b	72feb979-d793-4e9d-acd7-4b315ef6f80c	g.chr8:124440176T>A	ENST00000287387.2	+	2	221	c.96T>A	c.(94-96)atT>atA	p.I32I	WDYHV1_ENST00000518125.1_5'Flank|WDYHV1_ENST00000523984.1_5'UTR|WDYHV1_ENST00000517609.1_3'UTR|WDYHV1_ENST00000523356.1_Silent_p.I32I	NM_018024.1	NP_060494.1	Q96HA8	NTAQ1_HUMAN	WDYHV motif containing 1	32			I -> V (in dbSNP:rs6999234). {ECO:0000269|PubMed:15489334}.		cellular protein modification process (GO:0006464)	cytosol (GO:0005829)|nucleus (GO:0005634)	protein-N-terminal glutamine amidohydrolase activity (GO:0070773)			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(3)	17						AAGAAAATATTTGGAAGCTCT	0.299																																																0			8											112.0	129.0	123.0					8																	124440176		2203	4300	6503	124509357	SO:0001819	synonymous_variant	55093			AK001066	CCDS6344.1, CCDS64965.1	8q24.13	2008-10-01	2008-10-01	2008-10-01		ENSG00000156795			25490	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 32"""	C8orf32		12477932	Standard	NM_018024		Approved	FLJ10204	uc003yqn.1	Q96HA8		ENST00000287387.2:c.96T>A	8.37:g.124440176T>A			124509357	B4DE68|Q9NW95	Silent	SNP	HMMPfam_WDYHV	p.I32	ENST00000287387.2	37	c.96	CCDS6344.1	8																																																																																			-	HMMPfam_WDYHV		0.299	WDYHV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDYHV1	protein_coding	OTTHUMT00000381772.1	T	NM_018024		124509357	+1	no_errors	NM_018024	genbank	human	provisional	54_36p	silent	SNP	0.995	A
STAG1	10274	genome.wustl.edu	37	3	136455334	136455334	+	Intron	SNP	G	G	A			TCGA-29-1711-01A-01W-0633-09	TCGA-29-1711-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	39ddd936-df31-4268-9b57-3e0fac1bc69b	72feb979-d793-4e9d-acd7-4b315ef6f80c	g.chr3:136455334G>A	ENST00000383202.2	-	1	174				STAG1_ENST00000236698.5_Intron|STAG1_ENST00000434713.2_Intron|STAG1_ENST00000480733.1_Intron	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1						chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						ACCCCGGGTGGTCATTCACGC	0.507																																																0			3																																								137938024	SO:0001627	intron_variant	646547			Z75330	CCDS3090.1	3q22.2-q22.3	2011-08-12			ENSG00000118007	ENSG00000118007			11354	protein-coding gene	gene with protein product		604358				9305759	Standard	XM_006713471		Approved	SA-1, SCC3A	uc003era.1	Q8WVM7	OTTHUMG00000159798	ENST00000383202.2:c.82+15702C>T	3.37:g.136455334G>A			137938024	O00539|Q6P275	RNA	SNP	-	NULL	ENST00000383202.2	37	NULL	CCDS3090.1	3																																																																																			-	-		0.507	STAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC646547	protein_coding	OTTHUMT00000357366.1	G	NM_005862		137938024	-1	pseudogene	XR_017127	genbank	human	model	54_36p	rna	SNP	0.966	A
MCF2	4168	genome.wustl.edu	37	X	138733933	138733933	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1711-01A-01W-0633-09	TCGA-29-1711-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	39ddd936-df31-4268-9b57-3e0fac1bc69b	72feb979-d793-4e9d-acd7-4b315ef6f80c	g.chrX:138733933G>A	ENST00000370578.4	-	2	225	c.226C>T	c.(226-228)Ctc>Ttc	p.L76F	MCF2_ENST00000520602.1_5'UTR|MCF2_ENST00000414978.1_5'UTR|MCF2_ENST00000519895.1_5'UTR			P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	361	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				apoptotic signaling pathway (GO:0097190)|dendrite development (GO:0016358)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					TTTATACGGAGGAGCAGATCG	0.358																																																0			X											59.0	53.0	55.0					X																	138733933		1845	3974	5819	138561599	SO:0001583	missense	4168				CCDS14667.1, CCDS48175.1, CCDS55514.1, CCDS55515.1, CCDS55516.1, CCDS55517.1	Xq26.3-q27.1	2012-07-24			ENSG00000101977	ENSG00000101977		"""Rho guanine nucleotide exchange factors"""	6940	protein-coding gene	gene with protein product	"""Oncogene MCF2 (oncogene DBL)"""	311030				2577874, 1611909	Standard	NM_001099855		Approved	DBL, ARHGEF21	uc011mwo.1	P10911	OTTHUMG00000022537	ENST00000370578.4:c.226C>T	X.37:g.138733933G>A	ENSP00000359610:p.Leu76Phe		138561599	B7Z3Y5|B7Z869|B7ZAV1|E9PH77|F5H091|P14919|Q5JYJ2|Q5JYJ3|Q5JYJ4|Q8IUF3|Q8IUF4|Q9UJB3	Missense_Mutation	SNP	HMMSmart_SEC14,superfamily_Spectrin,HMMSmart_SPEC,superfamily_DH-domain,HMMPfam_RhoGEF,HMMSmart_RhoGEF,PatternScan_DH_1,superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH	p.L76F	ENST00000370578.4	37	c.226		X	.	.	.	.	.	.	.	.	.	.	G	8.088	0.773877	0.16051	.	.	ENSG00000101977	ENST00000370578	T	0.44083	0.93	4.3	-1.03	0.10102	.	0.272644	0.29417	N	0.012211	T	0.24624	0.0597	.	.	.	0.20873	N	0.999838	B	0.09022	0.002	B	0.04013	0.001	T	0.12604	-1.0541	9	0.72032	D	0.01	.	3.3892	0.07282	0.428:0.0:0.3107:0.2613	.	76	B7Z3Z2	.	F	76	ENSP00000359610:L76F	ENSP00000359610:L76F	L	-	1	0	MCF2	138561599	0.001000	0.12720	0.000000	0.03702	0.030000	0.12068	0.106000	0.15354	-0.168000	0.10853	-0.295000	0.09555	CTC	-	NULL		0.358	MCF2-201	KNOWN	basic	protein_coding	MCF2	protein_coding		G	NM_005369		138561599	-1	no_errors	ENST00000370578	ensembl	human	known	54_36p	missense	SNP	0.015	A
HIPK2	28996	genome.wustl.edu	37	7	139316426	139316426	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1711-01A-01W-0633-09	TCGA-29-1711-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	39ddd936-df31-4268-9b57-3e0fac1bc69b	72feb979-d793-4e9d-acd7-4b315ef6f80c	g.chr7:139316426G>T	ENST00000406875.3	-	3	1243	c.1149C>A	c.(1147-1149)gaC>gaA	p.D383E	HIPK2_ENST00000342645.6_Missense_Mutation_p.D383E|HIPK2_ENST00000428878.2_Missense_Mutation_p.D383E	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	383	Interaction with DAXX.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adult walking behavior (GO:0007628)|anterior/posterior pattern specification (GO:0009952)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|erythrocyte differentiation (GO:0030218)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|retina layer formation (GO:0010842)|SMAD protein signal transduction (GO:0060395)|smoothened signaling pathway (GO:0007224)|transforming growth factor beta receptor signaling pathway (GO:0007179)|voluntary musculoskeletal movement (GO:0050882)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription coactivator activity (GO:0001105)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|virion binding (GO:0046790)			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					GGGACCACATGTCAATTGCCT	0.468																																																0			7											103.0	98.0	100.0					7																	139316426		2000	4201	6201	138966966	SO:0001583	missense	28996			AF208291	CCDS75666.1, CCDS75667.1	7q32-q34	2004-01-29	2001-11-29		ENSG00000064393	ENSG00000064393			14402	protein-coding gene	gene with protein product		606868	"""homeodomain-interacting protein kinase 2"""			11120354	Standard	NM_001113239		Approved		uc003vvf.4	Q9H2X6	OTTHUMG00000157704	ENST00000406875.3:c.1149C>A	7.37:g.139316426G>T	ENSP00000385571:p.Asp383Glu		138966966	Q75MR7|Q8WWI4|Q9H2Y1	Missense_Mutation	SNP	superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST	p.D383E	ENST00000406875.3	37	c.1149		7	.	.	.	.	.	.	.	.	.	.	G	21.4	4.141243	0.77775	.	.	ENSG00000064393	ENST00000406875;ENST00000428878;ENST00000342645	T;T;T	0.74106	-0.81;-0.81;-0.81	5.18	-0.296	0.12824	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	D	0.83885	0.5351	.	.	.	0.41293	D	0.986996	P;D	0.61697	0.939;0.99	P;D	0.75484	0.552;0.986	T	0.82707	-0.0324	8	0.87932	D	0	.	10.7287	0.46083	0.5136:0.0:0.4864:0.0	.	383;383	Q9H2X6;Q9H2X6-3	HIPK2_HUMAN;.	E	383	ENSP00000385571:D383E;ENSP00000413724:D383E;ENSP00000343108:D383E	ENSP00000343108:D383E	D	-	3	2	HIPK2	138966966	0.998000	0.40836	0.986000	0.45419	0.964000	0.63967	0.431000	0.21444	-0.264000	0.09365	-0.373000	0.07131	GAC	-	superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase		0.468	HIPK2-001	KNOWN	basic|appris_principal	protein_coding	HIPK2	protein_coding	OTTHUMT00000349430.3	G	NM_022740		138966966	-1	no_start_codon	ENST00000263551	ensembl	human	known	54_36p	missense	SNP	1.000	T
EPM2A	7957	genome.wustl.edu	37	6	145956411	145956411	+	Missense_Mutation	SNP	A	A	C			TCGA-29-1711-01A-01W-0633-09	TCGA-29-1711-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	39ddd936-df31-4268-9b57-3e0fac1bc69b	72feb979-d793-4e9d-acd7-4b315ef6f80c	g.chr6:145956411A>C	ENST00000367519.3	-	3	1213	c.688T>G	c.(688-690)Tgg>Ggg	p.W230G	EPM2A_ENST00000496228.1_5'UTR	NM_005670.3	NP_005661.1	O95278	EPM2A_HUMAN	epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)	230					autophagy (GO:0006914)|carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen metabolic process (GO:0005977)|habituation (GO:0046959)|inositol phosphate dephosphorylation (GO:0046855)|nervous system development (GO:0007399)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polysome (GO:0005844)	carbohydrate phosphatase activity (GO:0019203)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|starch binding (GO:2001070)			kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1)	7		Ovarian(120;0.162)		OV - Ovarian serous cystadenocarcinoma(155;3.38e-07)|GBM - Glioblastoma multiforme(68;0.0203)		GTTGGCATCCAGATGTAGGCC	0.463																																																0			6											102.0	93.0	96.0					6																	145956411		2203	4300	6503	145998104	SO:0001583	missense	7957			AF284580	CCDS5206.1	6q24	2011-06-09			ENSG00000112425	ENSG00000112425		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	3413	protein-coding gene	gene with protein product		607566	"""epilepsy, progressive myoclonus type 2, Lafora disease (laforin)"""			9222970, 7485240	Standard	XM_006715564		Approved	LDE, LD	uc003qkw.3	B3EWF7	OTTHUMG00000015747	ENST00000367519.3:c.688T>G	6.37:g.145956411A>C	ENSP00000356489:p.Trp230Gly		145998104	B3KMU5|B4DRZ2|O95483|Q5T3F5|Q6IS15|Q8IU96|Q8IX24|Q8IX25|Q9BS66|Q9UEN2	Missense_Mutation	SNP	superfamily_Starch-binding domain-like,HMMPfam_CBM_20,superfamily_(Phosphotyrosine protein) phosphatases II,HMMSmart_SM00195,HMMPfam_DSPc,PatternScan_TYR_PHOSPHATASE_1	p.W230G	ENST00000367519.3	37	c.688	CCDS5206.1	6	.	.	.	.	.	.	.	.	.	.	A	22.8	4.333966	0.81801	.	.	ENSG00000112425	ENST00000535403;ENST00000367519;ENST00000392304;ENST00000324857	T	0.59772	0.24	5.91	5.91	0.95273	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.66819	0.2828	M	0.62016	1.91	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.997;0.994;1.0	T	0.65113	-0.6247	10	0.33940	T	0.23	-16.9067	16.3512	0.83208	1.0:0.0:0.0:0.0	.	230;230;92	O95278;O95278-2;E1P599	EPM2A_HUMAN;.;.	G	230	ENSP00000356489:W230G	ENSP00000320279:W230G	W	-	1	0	EPM2A	145998104	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.962000	0.93254	2.266000	0.75297	0.533000	0.62120	TGG	-	superfamily_(Phosphotyrosine protein) phosphatases II,HMMSmart_SM00195,HMMPfam_DSPc		0.463	EPM2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	EPM2A	protein_coding	OTTHUMT00000042564.1	A			145998104	-1	no_errors	NM_005670	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
FCGR1A	2209	genome.wustl.edu	37	1	149762918	149762918	+	Missense_Mutation	SNP	G	G	C	rs202141131	byFrequency	TCGA-29-1711-01A-01W-0633-09	TCGA-29-1711-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	39ddd936-df31-4268-9b57-3e0fac1bc69b	72feb979-d793-4e9d-acd7-4b315ef6f80c	g.chr1:149762918G>C	ENST00000369168.4	+	6	1024	c.970G>C	c.(970-972)Gat>Cat	p.D324H	HIST2H2BF_ENST00000545683.1_Intron|RP11-196G18.21_ENST00000420462.1_RNA|RP11-196G18.3_ENST00000428289.1_RNA	NM_000566.3	NP_000557.1	P12314	FCGR1_HUMAN	Fc fragment of IgG, high affinity Ia, receptor (CD64)	324	Interaction with EPB41L2.			D -> N (in Ref. 4; AAA58414). {ECO:0000305}.	antibody-dependent cellular cytotoxicity (GO:0001788)|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)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|intracellular signal transduction (GO:0035556)|phagocytosis, engulfment (GO:0006911)|phagocytosis, recognition (GO:0006910)|positive regulation of phagocytosis (GO:0050766)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation of type III hypersensitivity (GO:0001805)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome membrane (GO:0031901)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	IgG receptor activity (GO:0019770)|receptor signaling protein activity (GO:0005057)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)	10	Breast(34;0.0124)|all_hematologic(923;0.127)				Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Methyl aminolevulinate(DB00992)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Porfimer(DB00707)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GAAAAAGTGGGATTTAGAAAT	0.368																																																0			1											84.0	95.0	92.0					1																	149762918		2106	4246	6352	148029542	SO:0001583	missense	2209			BC032634	CCDS933.1	1q21.2-q21.3	2014-09-17	2005-02-02		ENSG00000150337	ENSG00000150337		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3613	protein-coding gene	gene with protein product		146760	"""Fc fragment of IgG, high affinity Ia, receptor for (CD64)"""			8697799, 9763663	Standard	NM_000566		Approved	CD64, CD64A	uc001esp.4	P12314	OTTHUMG00000012089	ENST00000369168.4:c.970G>C	1.37:g.149762918G>C	ENSP00000358165:p.Asp324His		148029542	P12315|Q5QNW7|Q92495|Q92663	Missense_Mutation	SNP	superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig	p.D324H	ENST00000369168.4	37	c.970	CCDS933.1	1	.	.	.	.	.	.	.	.	.	.	A	10.41	1.342425	0.24339	.	.	ENSG00000150337	ENST00000444948;ENST00000369168	T;T	0.02737	4.48;4.18	4.0	-1.65	0.08291	.	4.906860	0.00465	N	0.000101	T	0.00845	0.0028	N	0.19112	0.55	0.18873	N	0.999983	B	0.23540	0.087	B	0.28465	0.09	T	0.48958	-0.8988	10	0.87932	D	0	.	5.2105	0.15314	0.4076:0.1733:0.419:0.0	.	324	P12314	FCGR1_HUMAN	H	232;324	ENSP00000394279:D232H;ENSP00000358165:D324H	ENSP00000358165:D324H	D	+	1	0	FCGR1A	148029542	0.007000	0.16637	0.014000	0.15608	0.818000	0.46254	0.009000	0.13219	-0.360000	0.08138	-0.408000	0.06270	GAT	-	NULL		0.368	FCGR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGR1A	protein_coding	OTTHUMT00000033446.1	G	NM_000566		148029542	+1	no_errors	NM_000566	genbank	human	reviewed	54_36p	missense	SNP	0.532	C
PGLYRP3	114771	genome.wustl.edu	37	1	153283098	153283098	+	Missense_Mutation	SNP	A	A	G			TCGA-29-1711-01A-01W-0633-09	TCGA-29-1711-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	39ddd936-df31-4268-9b57-3e0fac1bc69b	72feb979-d793-4e9d-acd7-4b315ef6f80c	g.chr1:153283098A>G	ENST00000290722.1	-	1	96	c.44T>C	c.(43-45)cTc>cCc	p.L15P		NM_052891.1	NP_443123.1	Q96LB9	PGRP3_HUMAN	peptidoglycan recognition protein 3	15					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	28	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCAAGCCTGGAGACCCAGAAT	0.502																																																0			1											157.0	158.0	157.0					1																	153283098		2203	4300	6503	151549722	SO:0001583	missense	114771			AY035376	CCDS1035.1	1q21	2008-02-05			ENSG00000159527	ENSG00000159527			30014	protein-coding gene	gene with protein product	"""peptidoglycan recognition protein I alpha precursor"""	608197				11461926	Standard	NM_052891		Approved	PGRPIA, PGLYRPIalpha, PGRP-Ialpha	uc001fbn.1	Q96LB9	OTTHUMG00000014044	ENST00000290722.1:c.44T>C	1.37:g.153283098A>G	ENSP00000290722:p.Leu15Pro		151549722	A1A4U8|Q5SY65	Missense_Mutation	SNP	superfamily_Amidase_2,HMMSmart_PGRP,HMMPfam_Amidase_2,HMMSmart_Ami_2	p.L15P	ENST00000290722.1	37	c.44	CCDS1035.1	1	.	.	.	.	.	.	.	.	.	.	A	11.21	1.572612	0.28092	.	.	ENSG00000159527	ENST00000290722	T	0.07216	3.21	3.22	-0.57	0.11753	.	1.256210	0.05946	N	0.637926	T	0.07188	0.0182	L	0.60455	1.87	0.09310	N	0.999999	D	0.64830	0.994	P	0.60789	0.879	T	0.15378	-1.0439	10	0.40728	T	0.16	1.9953	2.6753	0.05079	0.4683:0.0:0.1213:0.4104	.	15	Q96LB9	PGRP3_HUMAN	P	15	ENSP00000290722:L15P	ENSP00000290722:L15P	L	-	2	0	PGLYRP3	151549722	0.001000	0.12720	0.000000	0.03702	0.004000	0.04260	1.220000	0.32491	-0.135000	0.11495	-0.327000	0.08410	CTC	-	NULL		0.502	PGLYRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGLYRP3	protein_coding	OTTHUMT00000039488.1	A	NM_052891		151549722	-1	no_errors	NM_052891	genbank	human	provisional	54_36p	missense	SNP	0.000	G
CLRN1	7401	genome.wustl.edu	37	3	150690293	150690293	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1711-01A-01W-0633-09	TCGA-29-1711-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	39ddd936-df31-4268-9b57-3e0fac1bc69b	72feb979-d793-4e9d-acd7-4b315ef6f80c	g.chr3:150690293C>T	ENST00000327047.1	-	1	493	c.203G>A	c.(202-204)gGa>gAa	p.G68E	RP11-166N6.2_ENST00000469268.1_RNA|CLRN1-AS1_ENST00000465576.1_RNA|CLRN1-AS1_ENST00000476886.1_RNA|CLRN1_ENST00000328863.4_Missense_Mutation_p.G68E	NM_174878.2	NP_777367.1	P58418	CLRN1_HUMAN	clarin 1	68					actin filament organization (GO:0007015)|auditory receptor cell stereocilium organization (GO:0060088)|cell motility (GO:0048870)|equilibrioception (GO:0050957)|photoreceptor cell maintenance (GO:0045494)|positive regulation of lamellipodium assembly (GO:0010592)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|microvillus (GO:0005902)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			CACACCCTCTCCGTGGAAAAG	0.507																																																0			3											92.0	80.0	84.0					3																	150690293		2203	4300	6503	152172983	SO:0001583	missense	7401			AF388366	CCDS3153.1, CCDS35492.1, CCDS56285.1	3q25.1	2014-09-17	2006-11-23	2006-11-23	ENSG00000163646	ENSG00000163646			12605	protein-coding gene	gene with protein product		606397	"""Usher syndrome 3A"""	USH3, USH3A, RP61		7711740, 8975700	Standard	NM_052995		Approved		uc021xfr.1	P58418	OTTHUMG00000140368	ENST00000327047.1:c.203G>A	3.37:g.150690293C>T	ENSP00000322280:p.Gly68Glu		152172983	D3DNJ3|E1ACU9|Q8N6A9	Missense_Mutation	SNP	NULL	p.G68E	ENST00000327047.1	37	c.203	CCDS3153.1	3	.	.	.	.	.	.	.	.	.	.	C	28.4	4.914583	0.92178	.	.	ENSG00000163646	ENST00000327047;ENST00000328863	T;T	0.72282	-0.25;-0.64	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	D	0.84311	0.5444	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85563	0.1229	10	0.87932	D	0	0.1963	19.4011	0.94630	0.0:1.0:0.0:0.0	.	68	P58418	CLRN1_HUMAN	E	68	ENSP00000322280:G68E;ENSP00000329158:G68E	ENSP00000322280:G68E	G	-	2	0	CLRN1	152172983	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.323000	0.79105	2.588000	0.87417	0.561000	0.74099	GGA	-	NULL		0.507	CLRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLRN1	protein_coding	OTTHUMT00000277060.1	C			152172983	-1	no_errors	NM_174878	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
MARCH1	55016	genome.wustl.edu	37	4	164534465	164534465	+	Splice_Site	SNP	C	C	T			TCGA-29-1711-01A-01W-0633-09	TCGA-29-1711-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	39ddd936-df31-4268-9b57-3e0fac1bc69b	72feb979-d793-4e9d-acd7-4b315ef6f80c	g.chr4:164534465C>T	ENST00000503008.1	-	5	1219		c.e5+1		MARCH1_ENST00000339875.5_Splice_Site|MARCH1_ENST00000514618.1_Splice_Site|MARCH1_ENST00000274056.7_Splice_Site	NM_001166373.1	NP_001159845.1	Q8TCQ1	MARH1_HUMAN	membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase						antigen processing and presentation of peptide antigen via MHC class II (GO:0002495)|immune response (GO:0006955)|protein polyubiquitination (GO:0000209)	cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	ligase activity (GO:0016874)|MHC protein binding (GO:0042287)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TCAGCACTTACCTGCAGATGT	0.423																																																0			4											100.0	99.0	99.0					4																	164534465		2203	4300	6503	164753915	SO:0001630	splice_region_variant	55016			AK000675	CCDS3806.1, CCDS54814.1	4q32.2	2013-01-09	2012-02-23			ENSG00000145416		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	26077	protein-coding gene	gene with protein product		613331	"""membrane-associated ring finger (C3HC4) 1"""			14722266	Standard	NM_017923		Approved	FLJ20668, MARCH-I, RNF171	uc003iqs.2	Q8TCQ1		ENST00000503008.1:c.242+1G>A	4.37:g.164534465C>T			164753915	D3DP29|Q9NWR0	Splice_Site	SNP	-	e1+1	ENST00000503008.1	37	c.191+1	CCDS54814.1	4	.	.	.	.	.	.	.	.	.	.	C	17.91	3.504098	0.64410	.	.	ENSG00000145416	ENST00000274056;ENST00000503008;ENST00000514618;ENST00000339875;ENST00000507270	.	.	.	6.06	6.06	0.98353	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.6282	0.99521	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MARCH1	164753915	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	5.673000	0.68109	2.871000	0.98454	0.655000	0.94253	.	-	-		0.423	MARCH1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MARCH1	protein_coding	OTTHUMT00000364493.2	C	NM_017923	Intron	164753915	-1	no_errors	NM_017923	genbank	human	validated	54_36p	splice_site	SNP	1.000	T
SLC2A2	6514	genome.wustl.edu	37	3	170715879	170715879	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1711-01A-01W-0633-09	TCGA-29-1711-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	39ddd936-df31-4268-9b57-3e0fac1bc69b	72feb979-d793-4e9d-acd7-4b315ef6f80c	g.chr3:170715879G>A	ENST00000314251.3	-	11	1467	c.1388C>T	c.(1387-1389)cCt>cTt	p.P463L	SLC2A2_ENST00000382808.4_Missense_Mutation_p.P344L	NM_000340.1	NP_000331.1	P11168	GTR2_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 2	463					carbohydrate metabolic process (GO:0005975)|endocrine pancreas development (GO:0031018)|energy reserve metabolic process (GO:0006112)|glucose transport (GO:0015758)|hexose transmembrane transport (GO:0035428)|hexose transport (GO:0008645)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	brush border (GO:0005903)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	D-glucose transmembrane transporter activity (GO:0055056)|dehydroascorbic acid transporter activity (GO:0033300)|glucose transmembrane transporter activity (GO:0005355)|hexose transmembrane transporter activity (GO:0015149)			central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)		Streptozocin(DB00428)	AAACACATAAGGTCCACAGAA	0.403																																																0			3											37.0	40.0	39.0					3																	170715879		2203	4300	6503	172198573	SO:0001583	missense	6514			J03810	CCDS3215.1	3q26.2-q27	2013-05-22			ENSG00000163581	ENSG00000163581		"""Solute carriers"""	11006	protein-coding gene	gene with protein product		138160		GLUT2		1852621	Standard	NM_000340		Approved		uc003fhe.1	P11168	OTTHUMG00000158997	ENST00000314251.3:c.1388C>T	3.37:g.170715879G>A	ENSP00000323568:p.Pro463Leu		172198573	A8K481|B2R936|B7Z547|F8W8V8|Q9UCW9	Missense_Mutation	SNP	superfamily_MFS_gen_substrate_transporter,HMMPfam_Sugar_tr,PatternScan_SUGAR_TRANSPORT_2,PatternScan_SUGAR_TRANSPORT_1	p.P463L	ENST00000314251.3	37	c.1388	CCDS3215.1	3	.	.	.	.	.	.	.	.	.	.	G	16.46	3.128302	0.56721	.	.	ENSG00000163581	ENST00000314251;ENST00000382808	T;T	0.73575	-0.76;-0.76	6.02	6.02	0.97574	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.193697	0.56097	D	0.000026	T	0.80623	0.4658	M	0.78637	2.42	0.80722	D	1	B	0.32302	0.363	B	0.38500	0.275	T	0.78615	-0.2135	10	0.51188	T	0.08	.	20.5407	0.99260	0.0:0.0:1.0:0.0	.	463	P11168	GTR2_HUMAN	L	463;344	ENSP00000323568:P463L;ENSP00000372258:P344L	ENSP00000323568:P463L	P	-	2	0	SLC2A2	172198573	1.000000	0.71417	0.995000	0.50966	0.019000	0.09904	3.619000	0.54196	2.865000	0.98341	0.655000	0.94253	CCT	-	superfamily_MFS_gen_substrate_transporter,HMMPfam_Sugar_tr		0.403	SLC2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC2A2	protein_coding	OTTHUMT00000352834.1	G	NM_000340		172198573	-1	no_errors	NM_000340	genbank	human	reviewed	54_36p	missense	SNP	0.920	A
TTN	7273	genome.wustl.edu	37	2	179643698	179643698	+	Missense_Mutation	SNP	C	C	T	rs267599091		TCGA-29-1711-01A-01W-0633-09	TCGA-29-1711-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	39ddd936-df31-4268-9b57-3e0fac1bc69b	72feb979-d793-4e9d-acd7-4b315ef6f80c	g.chr2:179643698C>T	ENST00000591111.1	-	24	4335	c.4111G>A	c.(4111-4113)Gga>Aga	p.G1371R	TTN_ENST00000359218.5_Missense_Mutation_p.G1325R|TTN_ENST00000360870.5_Missense_Mutation_p.G1371R|TTN_ENST00000342175.6_Missense_Mutation_p.G1325R|TTN_ENST00000460472.2_Missense_Mutation_p.G1325R|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.G1371R|TTN_ENST00000342992.6_Missense_Mutation_p.G1371R			Q8WZ42	TITIN_HUMAN	titin	33567	Ig-like 5.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATTGCATTTCCTTTAATATTG	0.453																																																0			2											111.0	100.0	104.0					2																	179643698		2203	4300	6503	179351943	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.4111G>A	2.37:g.179643698C>T	ENSP00000465570:p.Gly1371Arg		179351943	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	superfamily_SSF48726,HMMPfam_I-set,HMMSmart_IGc2,HMMSmart_IG,HMMPfam_Titin_Z,HMMPfam_ig,PatternScan_IG_MHC,PatternScan_THIOL_PROTEASE_HIS	p.G1371R	ENST00000591111.1	37	c.4111		2	.	.	.	.	.	.	.	.	.	.	C	17.18	3.324843	0.60634	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.74737	-0.87;-0.87;-0.87;-0.87;-0.87	5.91	5.91	0.95273	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.90834	0.7121	H	0.94658	3.565	0.49389	D	0.999787	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.92408	0.5935	9	0.87932	D	0	.	20.2963	0.98556	0.0:1.0:0.0:0.0	.	1325;1325;1325;1371;1371	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	R	1371;1325;1325;1325;1325;1371	ENSP00000343764:G1371R;ENSP00000434586:G1325R;ENSP00000340554:G1325R;ENSP00000352154:G1325R;ENSP00000354117:G1371R	ENSP00000340554:G1325R	G	-	1	0	TTN	179351943	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.935000	0.70145	2.813000	0.96785	0.655000	0.94253	GGA	-	superfamily_SSF48726,HMMPfam_I-set,HMMSmart_IGc2		0.453	TTN-019	PUTATIVE	basic	protein_coding	TTN	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179351943	-1	no_errors	NM_133379	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
Unknown	0	genome.wustl.edu	37	2	207275217	207275217	+	IGR	SNP	G	G	C			TCGA-29-1711-01A-01W-0633-09	TCGA-29-1711-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	39ddd936-df31-4268-9b57-3e0fac1bc69b	72feb979-d793-4e9d-acd7-4b315ef6f80c	g.chr2:207275217G>C								AC017081.1 (54374 upstream) : ADAM23 (33045 downstream)																							CTTGACAAATGCCAGGCACGT	0.507																																																0			2																																								206983462	SO:0001628	intergenic_variant	645978																															2.37:g.207275217G>C			206983462		RNA	SNP	-	NULL		37	NULL		2																																																																																			-	-	0	0.507					LOC645978			G			206983462	-1	pseudogene	XR_017572	genbank	human	model	54_36p	rna	SNP	1.000	C
CNR2	1269	genome.wustl.edu	37	1	24201496	24201519	+	In_Frame_Del	DEL	TCCGGAAAAGAGGAAGGCGATGAA	TCCGGAAAAGAGGAAGGCGATGAA	-	rs201054712|rs371817276|rs567693532|rs142861964|rs201354527	byFrequency	TCGA-29-1711-01A-01W-0633-09	TCGA-29-1711-10A-01W-0633-09	TCCGGAAAAGAGGAAGGCGATGAA	TCCGGAAAAGAGGAAGGCGATGAA					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	39ddd936-df31-4268-9b57-3e0fac1bc69b	72feb979-d793-4e9d-acd7-4b315ef6f80c	g.chr1:24201496_24201519delTCCGGAAAAGAGGAAGGCGATGAA	ENST00000374472.4	-	2	750_773	c.589_612delTTCATCGCCTTCCTCTTTTCCGGA	c.(589-612)ttcatcgccttcctcttttccggadel	p.FIAFLFSG197del	CNR2_ENST00000536471.1_In_Frame_Del_p.FIAFLFSG197del	NM_001841.2	NP_001832.1	P34972	CNR2_HUMAN	cannabinoid receptor 2 (macrophage)	197					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|inflammatory response (GO:0006954)|negative regulation of action potential (GO:0045759)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mast cell activation (GO:0033004)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|response to amphetamine (GO:0001975)|response to lipopolysaccharide (GO:0032496)|sensory perception of pain (GO:0019233)	dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)	p.A199T(2)|p.G204*(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2)	26		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146)	Dronabinol(DB00470)|Nabilone(DB00486)	TGTAGATGATTCCGGAAAAGAGGAAGGCGATGAACAGGAGCCAG	0.571																																																4	Substitution - Nonsense(2)|Substitution - Missense(2)	lung(2)|endometrium(2)	1																																								24074106	SO:0001651	inframe_deletion	1269			X74328	CCDS245.1	1p	2012-08-08			ENSG00000188822	ENSG00000188822		"""GPCR / Class A : Cannabinoid receptors"""	2160	protein-coding gene	gene with protein product		605051					Standard	NM_001841		Approved	CB2	uc001bif.3	P34972	OTTHUMG00000013892	ENST00000374472.4:c.589_612delTTCATCGCCTTCCTCTTTTCCGGA	1.37:g.24201496_24201519delTCCGGAAAAGAGGAAGGCGATGAA	ENSP00000363596:p.Phe197_Gly204del		24074083	C6ES44|Q4VBK8|Q5JRH7|Q6B0G7|Q6NSY0	In_Frame_Del	DEL	HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321	p.FIAFLFSG197in_frame_del	ENST00000374472.4	37	c.612_589	CCDS245.1	1																																																																																			(deletion:cds_exon[24073612,24074694])	HMMPfam_7tm_1,superfamily_SSF81321		0.571	CNR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNR2	protein_coding	OTTHUMT00000038949.1	TCCGGAAAAGAGGAAGGCGATGAA	NM_001841		24074106	-1	no_errors	NM_001841	genbank	human	reviewed	54_36p	in_frame_del	DEL	0.992:0.966:0.900:0.001:0.000:0.000:0.011:0.982:0.987:0.995:1.000:1.000:0.698:0.614:0.215:0.040:0.007:0.001:0.001:0.322:0.319:0.321:0.366:0.163	-
RRP7A	27341	genome.wustl.edu	37	22	42910685	42910686	+	Intron	INS	-	-	A	rs142905414	byFrequency	TCGA-29-1711-01A-01W-0633-09	TCGA-29-1711-10A-01W-0633-09	-	-					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	39ddd936-df31-4268-9b57-3e0fac1bc69b	72feb979-d793-4e9d-acd7-4b315ef6f80c	g.chr22:42910685_42910686insA	ENST00000323013.6	-	5	574				SERHL_ENST00000359906.2_RNA	NM_015703.4	NP_056518.2	Q9Y3A4	RRP7A_HUMAN	ribosomal RNA processing 7 homolog A (S. cerevisiae)								nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.?(2)		central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	10						GCGGGGCCTCTACCTCAGCGAT	0.658													A|A|AA|insertion	199	0.0397364	0.0968	0.0202	5008	,	,		22631	0.0298		0.0119	False		,,,				2504	0.0153															2	Unknown(2)	liver(2)	22																																								41240630	SO:0001627	intron_variant	27341			BC035992	CCDS14036.1	22q13.2	2008-08-08			ENSG00000189306	ENSG00000189306			24286	protein-coding gene	gene with protein product						10810093, 12087473	Standard	NM_015703		Approved	CGI-96	uc003bcq.3	Q9Y3A4	OTTHUMG00000150891	ENST00000323013.6:c.558+1->T	22.37:g.42910686_42910686dupA			41240629	A4FTX2|B2RBG4|Q0VAD0|Q5JZ94|Q6P4B5|Q8IVR9|Q8IVY0|Q8N5Q3|Q8NEY6|Q9Y3H5	Splice_Site	INS	-	e5+2	ENST00000323013.6	37	c.558+2_558+1	CCDS14036.1	22																																																																																			-	-		0.658	RRP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RRP7A	protein_coding	OTTHUMT00000320451.1	-	NM_015703		41240630	-1	no_errors	NM_015703	genbank	human	provisional	54_36p	splice_site_ins	INS	0.024:0.975	A
GPR116	221395	genome.wustl.edu	37	6	46830635	46830651	+	Frame_Shift_Del	DEL	TGGAGCAGACTGTTTAT	TGGAGCAGACTGTTTAT	-	rs370227779|rs2273266	byFrequency	TCGA-29-1711-01A-01W-0633-09	TCGA-29-1711-10A-01W-0633-09	TGGAGCAGACTGTTTAT	TGGAGCAGACTGTTTAT					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	39ddd936-df31-4268-9b57-3e0fac1bc69b	72feb979-d793-4e9d-acd7-4b315ef6f80c	g.chr6:46830635_46830651delTGGAGCAGACTGTTTAT	ENST00000283296.7	-	15	2461_2477	c.2173_2189delATAAACAGTCTGCTCCA	c.(2173-2190)ataaacagtctgctccagfs	p.INSLLQ725fs	GPR116_ENST00000456426.2_Frame_Shift_Del_p.INSLLQ583fs|GPR116_ENST00000545669.1_Frame_Shift_Del_p.INSLLQ154fs|GPR116_ENST00000362015.4_Frame_Shift_Del_p.INSLLQ725fs|GPR116_ENST00000265417.7_Frame_Shift_Del_p.INSLLQ725fs	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	725					energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			CTTAGCCATCTGGAGCAGACTGTTTATTGGGGCAGAG	0.507																																					NSCLC(59;410 1274 8751 36715 50546)											0			6																																								46938610	SO:0001589	frameshift_variant	221395			AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.2173_2189delATAAACAGTCTGCTCCA	6.37:g.46830635_46830651delTGGAGCAGACTGTTTAT	ENSP00000283296:p.Ile725fs		46938594	O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Frame_Shift_Del	DEL	PatternScan_EGF_2,superfamily_SEA domain,HMMPfam_SEA,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig,HMMPfam_GPS,HMMSmart_SM00303,HMMPfam_7tm_2,PatternScan_G_PROTEIN_RECEP_F2_2	p.I725fs	ENST00000283296.7	37	c.2189_2173	CCDS4919.1	6																																																																																			(deletion:cds_exon[46938584,46938792])	NULL		0.507	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR116	protein_coding	OTTHUMT00000040806.2	TGGAGCAGACTGTTTAT	NM_015234		46938610	-1	no_errors	NM_001098518	genbank	human	validated	54_36p	frame_shift_del	DEL	0.030:0.116:0.702:0.984:1.000:1.000:0.998:0.978:0.919:0.815:0.780:0.769:0.860:0.881:0.883:0.936:0.934	-
WNK3	65267	genome.wustl.edu	37	X	54359805	54359836	+	Frame_Shift_Del	DEL	CCACCTCTCAACACATTTGAAGGAAGCTTATC	CCACCTCTCAACACATTTGAAGGAAGCTTATC	-	rs200098628|rs146653146|rs149686278		TCGA-29-1711-01A-01W-0633-09	TCGA-29-1711-10A-01W-0633-09	CCACCTCTCAACACATTTGAAGGAAGCTTATC	CCACCTCTCAACACATTTGAAGGAAGCTTATC					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	39ddd936-df31-4268-9b57-3e0fac1bc69b	72feb979-d793-4e9d-acd7-4b315ef6f80c	g.chrX:54359805_54359836delCCACCTCTCAACACATTTGAAGGAAGCTTATC	ENST00000375159.2	-	1	270_301	c.271_302delGATAAGCTTCCTTCAAATGTGTTGAGAGGTGG	c.(271-303)gataagcttccttcaaatgtgttgagaggtggafs	p.DKLPSNVLRGG91fs	WNK3_ENST00000354646.2_Frame_Shift_Del_p.DKLPSNVLRGG91fs|WNK3_ENST00000375169.3_Frame_Shift_Del_p.DKLPSNVLRGG91fs			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	91					intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of ion transmembrane transporter activity (GO:0032414)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of rubidium ion transmembrane transporter activity (GO:2000688)|positive regulation of rubidium ion transport (GO:2000682)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						AACTTCTTGTCCACCTCTCAACACATTTGAAGGAAGCTTATCTACTCTTGGA	0.366																																																0			X																																								54376561	SO:0001589	frameshift_variant	65267			AJ409088	CCDS14357.1, CCDS35302.1	Xp11.22	2008-05-14	2005-01-19	2005-01-22	ENSG00000196632	ENSG00000196632			14543	protein-coding gene	gene with protein product		300358	"""protein kinase, lysine deficient 3"""	PRKWNK3			Standard	NM_020922		Approved		uc004dtc.2	Q9BYP7	OTTHUMG00000021626	ENST00000375159.2:c.271_302delGATAAGCTTCCTTCAAATGTGTTGAGAGGTGG	X.37:g.54359805_54359836delCCACCTCTCAACACATTTGAAGGAAGCTTATC	ENSP00000364301:p.Asp91fs		54376530	B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Frame_Shift_Del	DEL	superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ST	p.D91fs	ENST00000375159.2	37	c.302_271	CCDS14357.1	X																																																																																			(deletion:cds_exon[54376295,54376831])	NULL		0.366	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WNK3	protein_coding	OTTHUMT00000056799.2	CCACCTCTCAACACATTTGAAGGAAGCTTATC	NM_020922		54376561	-1	no_errors	NM_020922	genbank	human	validated	54_36p	frame_shift_del	DEL	0.998:0.997:0.952:0.951:0.885:0.563:0.258:0.168:0.139:0.641:0.641:0.635:0.777:0.941:0.966:0.987:0.994:0.993:0.988:0.873:0.850:0.889:0.880:0.872:0.827:0.750:0.746:0.762:0.780:0.820:0.978:0.991	-
KDR	3791	genome.wustl.edu	37	4	55961087	55961089	+	In_Frame_Del	DEL	GTA	GTA	-	rs201374419	byFrequency	TCGA-29-1711-01A-01W-0633-09	TCGA-29-1711-10A-01W-0633-09	GTA	GTA					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	39ddd936-df31-4268-9b57-3e0fac1bc69b	72feb979-d793-4e9d-acd7-4b315ef6f80c	g.chr4:55961087_55961089delGTA	ENST00000263923.4	-	21	3146_3148	c.2851_2853delTAC	c.(2851-2853)tacdel	p.Y951del	RP11-530I17.1_ENST00000511222.1_RNA	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	951	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TTGCTCCAACGTAGTCTTTCCCT	0.463			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)																													Dom	yes		4	4q11-q12	3791	vascular endothelial growth factor receptor 2		E	0			4																																								55655846	SO:0001651	inframe_deletion	3791			AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.2851_2853delTAC	4.37:g.55961087_55961089delGTA	ENSP00000263923:p.Tyr951del		55655844	A2RRS0|B5A925|C5IFA0|O60723|Q14178	In_Frame_Del	DEL	superfamily_SSF48726,HMMSmart_IG,HMMPfam_V-set,HMMPfam_I-set,HMMSmart_IGc2,HMMPfam_ig,superfamily_Kinase_like,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_PROTEIN_KINASE_ATP,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR	p.Y951in_frame_del	ENST00000263923.4	37	c.2853_2851	CCDS3497.1	4																																																																																			(deletion:cds_exon[55655726,55655879])	superfamily_Kinase_like,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc		0.463	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDR	protein_coding	OTTHUMT00000250645.1	GTA			55655846	-1	no_errors	NM_002253	genbank	human	validated	54_36p	in_frame_del	DEL	0.522:0.984:0.993	-
GNRHR	2798	genome.wustl.edu	37	4	68619767	68619791	+	Frame_Shift_Del	DEL	GGCATGACAATCAGAGTCTCCAACA	GGCATGACAATCAGAGTCTCCAACA	-	rs200176056|rs374719194|rs104893844|rs367560743		TCGA-29-1711-01A-01W-0633-09	TCGA-29-1711-10A-01W-0633-09	GGCATGACAATCAGAGTCTCCAACA	GGCATGACAATCAGAGTCTCCAACA					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	39ddd936-df31-4268-9b57-3e0fac1bc69b	72feb979-d793-4e9d-acd7-4b315ef6f80c	g.chr4:68619767_68619791delGGCATGACAATCAGAGTCTCCAACA	ENST00000226413.4	-	1	287_311	c.263_287delTGTTGGAGACTCTGATTGTCATGCC	c.(262-288)ctgttggagactctgattgtcatgccafs	p.LLETLIVMP88fs	UBA6-AS1_ENST00000500538.2_RNA|GNRHR_ENST00000420975.2_Frame_Shift_Del_p.LLETLIVMP88fs|UBA6-AS1_ENST00000502758.1_RNA	NM_000406.2	NP_000397.1	P30968	GNRHR_HUMAN	gonadotropin-releasing hormone receptor	88					cellular response to gonadotropin-releasing hormone (GO:0097211)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	gonadotropin-releasing hormone receptor activity (GO:0004968)			endometrium(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	13					Abarelix(DB00106)|Buserelin(DB06719)|Cetrorelix(DB00050)|Danazol(DB01406)|Degarelix(DB06699)|Gonadorelin(DB00644)|Goserelin(DB00014)|Leuprolide(DB00007)|Nafarelin(DB00666)	CCCATCCAGTGGCATGACAATCAGAGTCTCCAACAGGTTGGCTAA	0.431																																																0			4	GRCh37	CM011362|CM067675	GNRHR	M	rs104893844																																			68302386	SO:0001589	frameshift_variant	2798				CCDS3517.1, CCDS47064.1	4q21.2	2012-08-08			ENSG00000109163	ENSG00000109163		"""GPCR / Class A : Gonadotropin-releasing hormone receptors"""	4421	protein-coding gene	gene with protein product		138850		GRHR		8386108	Standard	NM_000406		Approved	LHRHR	uc003hdn.3	P30968	OTTHUMG00000129302	ENST00000226413.4:c.263_287delTGTTGGAGACTCTGATTGTCATGCC	4.37:g.68619767_68619791delGGCATGACAATCAGAGTCTCCAACA	ENSP00000226413:p.Leu88fs		68302362	O75793|Q14D13|Q92644	Frame_Shift_Del	DEL	superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.L88fs	ENST00000226413.4	37	c.287_263	CCDS3517.1	4																																																																																			(deletion:cds_exon[68302127,68302648])	superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1		0.431	GNRHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNRHR	protein_coding	OTTHUMT00000251432.2	GGCATGACAATCAGAGTCTCCAACA			68302386	-1	no_errors	NM_000406	genbank	human	reviewed	54_36p	frame_shift_del	DEL	1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.994:1.000:1.000:0.999:1.000:0.992:0.985:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.959:0.961:1.000	-
COL13A1	1305	genome.wustl.edu	37	10	71562299	71562319	+	In_Frame_Del	DEL	GAGTCCAGGGTCGTGCGGGCT	GAGTCCAGGGTCGTGCGGGCT	-	rs528307100		TCGA-29-1711-01A-01W-0633-09	TCGA-29-1711-10A-01W-0633-09	GAGTCCAGGGTCGTGCGGGCT	GAGTCCAGGGTCGTGCGGGCT					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	39ddd936-df31-4268-9b57-3e0fac1bc69b	72feb979-d793-4e9d-acd7-4b315ef6f80c	g.chr10:71562299_71562319delGAGTCCAGGGTCGTGCGGGCT	ENST00000398978.3	+	1	612_632	c.120_140delGAGTCCAGGGTCGTGCGGGCT	c.(118-141)ccgagtccagggtcgtgcgggctg>ccg	p.SPGSCGL41del	COL13A1_ENST00000398973.3_In_Frame_Del_p.SPGSCGL41del|COL13A1_ENST00000354547.3_In_Frame_Del_p.SPGSCGL41del|COL13A1_ENST00000398969.3_In_Frame_Del_p.SPGSCGL41del|COL13A1_ENST00000398968.3_In_Frame_Del_p.SPGSCGL41del|COL13A1_ENST00000398972.3_In_Frame_Del_p.SPGSCGL41del|COL13A1_ENST00000398964.3_In_Frame_Del_p.SPGSCGL41del|COL13A1_ENST00000520133.1_In_Frame_Del_p.SPGSCGL41del|COL13A1_ENST00000356340.3_In_Frame_Del_p.SPGSCGL41del|COL13A1_ENST00000398971.3_In_Frame_Del_p.SPGSCGL41del|COL13A1_ENST00000398966.3_In_Frame_Del_p.SPGSCGL41del|COL13A1_ENST00000517713.1_In_Frame_Del_p.SPGSCGL41del|COL13A1_ENST00000398974.3_In_Frame_Del_p.SPGSCGL41del|COL13A1_ENST00000520267.1_In_Frame_Del_p.SPGSCGL41del|COL13A1_ENST00000522165.1_In_Frame_Del_p.SPGSCGL41del|COL13A1_ENST00000357811.3_In_Frame_Del_p.SPGSCGL41del	NM_001130103.1	NP_001123575.1			collagen, type XIII, alpha 1											endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28						CACGGCTGCCGAGTCCAGGGTCGTGCGGGCTGCTGACGCTG	0.769																																																0			10																																								71232325	SO:0001651	inframe_deletion	1305			AJ293624	CCDS44419.1, CCDS44423.1, CCDS44424.1, CCDS44425.1, CCDS44427.1, CCDS44428.1, CCDS44423.2, CCDS44424.2, CCDS44425.2, CCDS44427.2, CCDS44428.2	10q22	2013-01-16			ENSG00000197467	ENSG00000197467		"""Collagens"""	2190	protein-coding gene	gene with protein product		120350					Standard	NM_001130103		Approved		uc001jql.3	Q5TAT6	OTTHUMG00000018394	ENST00000398978.3:c.120_140delGAGTCCAGGGTCGTGCGGGCT	10.37:g.71562299_71562319delGAGTCCAGGGTCGTGCGGGCT	ENSP00000381949:p.Ser41_Leu47del		71232305		In_Frame_Del	DEL	HMMPfam_Collagen	p.SPGSCGL41in_frame_del	ENST00000398978.3	37	c.120_140	CCDS44419.1	10																																																																																			(deletion:cds_exon[71232186,71232479])	NULL		0.769	COL13A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL13A1	protein_coding	OTTHUMT00000048468.1	GAGTCCAGGGTCGTGCGGGCT	NM_005203		71232325	+1	no_errors	NM_005203	genbank	human	reviewed	54_36p	in_frame_del	DEL	0.049:0.042:0.029:0.007:0.008:0.011:0.018:0.117:0.303:0.425:0.432:0.467:0.530:0.941:0.965:0.979:0.996:0.999:1.000:1.000:1.000	-
DLG5	9231	genome.wustl.edu	37	10	79581190	79581229	+	Frame_Shift_Del	DEL	TTCTGGGAGGTTTTGGGGGTGTCAGAGGCCCCGCCCTCTT	TTCTGGGAGGTTTTGGGGGTGTCAGAGGCCCCGCCCTCTT	-	rs34532080|rs201748635		TCGA-29-1711-01A-01W-0633-09	TCGA-29-1711-10A-01W-0633-09	TTCTGGGAGGTTTTGGGGGTGTCAGAGGCCCCGCCCTCTT	TTCTGGGAGGTTTTGGGGGTGTCAGAGGCCCCGCCCTCTT					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	39ddd936-df31-4268-9b57-3e0fac1bc69b	72feb979-d793-4e9d-acd7-4b315ef6f80c	g.chr10:79581190_79581229delTTCTGGGAGGTTTTGGGGGTGTCAGAGGCCCCGCCCTCTT	ENST00000372391.2	-	15	3018_3057	c.3013_3052delAAGAGGGCGGGGCCTCTGACACCCCCAAAACCTCCCAGAA	c.(3013-3054)aagagggcggggcctctgacacccccaaaacctcccagaaggfs	p.KRAGPLTPPKPPRR1005fs	DLG5_ENST00000459739.1_5'UTR|DLG5_ENST00000372388.2_Intron	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1005	Pro-rich.				apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)	p.P1016L(1)		breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			GAGTCGCTCCTTCTGGGAGGTTTTGGGGGTGTCAGAGGCCCCGCCCTCTTGGAGGGCTGG	0.604																																																1	Substitution - Missense(1)	upper_aerodigestive_tract(1)	10																																								79251235	SO:0001589	frameshift_variant	9231			U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"""discs, large (Drosophila) homolog 5"""			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.3013_3052delAAGAGGGCGGGGCCTCTGACACCCCCAAAACCTCCCAGAA	10.37:g.79581190_79581229delTTCTGGGAGGTTTTGGGGGTGTCAGAGGCCCCGCCCTCTT	ENSP00000361467:p.Lys1005fs		79251196	A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Frame_Shift_Del	DEL	superfamily_DEATH domain,HMMPfam_CARD,HMMPfam_DUF622,superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228,PatternScan_RCC1_2,superfamily_SH3-domain,HMMSmart_SM00326,HMMPfam_SH3_2,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00072,HMMPfam_Guanylate_kin,HMMPfam_Gua_kin_assoc_C	p.K1005fs	ENST00000372391.2	37	c.3052_3013	CCDS7353.2	10																																																																																			(deletion:cds_exon[79250846,79251865])	NULL		0.604	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLG5	protein_coding	OTTHUMT00000048900.2	TTCTGGGAGGTTTTGGGGGTGTCAGAGGCCCCGCCCTCTT			79251235	-1	no_errors	NM_004747	genbank	human	reviewed	54_36p	frame_shift_del	DEL	1.000:0.995:1.000:1.000:1.000:1.000:1.000:0.991:1.000:1.000:0.989:0.997:0.997:0.957:1.000:1.000:0.998:1.000:1.000:0.452:0.997:0.997:0.976:0.982:0.963:0.453:0.462:0.313:0.273:0.524:0.856:0.389:0.264:0.270:0.175:0.399:0.485:0.512:0.542:0.548	-
FAM129B	64855	genome.wustl.edu	37	9	130269566	130269571	+	In_Frame_Del	DEL	CCGCCC	CCGCCC	-	rs532028077	byFrequency	TCGA-29-1711-01A-01W-0633-09	TCGA-29-1711-10A-01W-0633-09	CCGCCC	CCGCCC					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	39ddd936-df31-4268-9b57-3e0fac1bc69b	72feb979-d793-4e9d-acd7-4b315ef6f80c	g.chr9:130269566_130269571delCCGCCC	ENST00000373312.3	-	14	2007_2012	c.1794_1799delGGGCGG	c.(1792-1800)gggggcggc>ggc	p.598_600GGG>G	FAM129B_ENST00000468379.1_5'UTR|FAM129B_ENST00000373314.3_In_Frame_Del_p.585_587GGG>G	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B	598					negative regulation of apoptotic process (GO:0043066)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						GCTGGGGCTGCCGCCCCCGCCGCTGT	0.694														17	0.00339457	0.0121	0.0014	5008	,	,		15077	0.0		0.0	False		,,,				2504	0.0															0			9							,	31,4115		6,19,2048					,	-8.3	0.0			16	29,8021		13,3,4009	no	coding,coding	FAM129B	NM_022833.2,NM_001035534.1	,	19,22,6057	A1A1,A1R,RR		0.3602,0.7477,0.492	,	,		60,12136				129309392	SO:0001651	inframe_deletion	64855			AF151783	CCDS35144.1, CCDS35145.1	9q34.13	2010-02-01	2006-11-23	2006-11-23	ENSG00000136830	ENSG00000136830			25282	protein-coding gene	gene with protein product		614045	"""chromosome 9 open reading frame 88"""	C9orf88		14702039, 19362540	Standard	XM_005252135		Approved	DKFZP434H0820, FLJ13518, FLJ22151, FLJ22298, bA356B19.6, MINERVA	uc004brh.3	Q96TA1	OTTHUMG00000020705	ENST00000373312.3:c.1794_1799delGGGCGG	9.37:g.130269566_130269571delCCGCCC	ENSP00000362409:p.Gly598_Gly599del		129309387	Q4LE55|Q5VVW6|Q5VVW7|Q9BUS2|Q9NT35	In_Frame_Del	DEL	superfamily_SSF50729,HMMSmart_PH	p.GG599in_frame_del	ENST00000373312.3	37	c.1799_1794	CCDS35145.1	9																																																																																			(deletion:cds_exon[129308945,129309531])	NULL		0.694	FAM129B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM129B	protein_coding	OTTHUMT00000054196.1	CCGCCC	NM_022833		129309392	-1	no_errors	NM_022833	genbank	human	validated	54_36p	in_frame_del	DEL	0.004:0.000:0.000:0.000:0.001:0.000	-
