#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_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_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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_default_gene_name	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_name_source	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
ABCA12	26154	genome.wustl.edu	37	2	215940284	215940284	+	Intron	DEL	A	A	-			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr2:215940284delA	ENST00000272895.7	-	3	383				ABCA12_ENST00000412081.1_Frame_Shift_Del_p.S74fs	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12						cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		tttatGCAGGAAAAAAAAAAA	0.373																																					Ovarian(66;664 1488 5121 34295)												0																																										SO:0001627	intron_variant	26154			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.164-11342T>-	2.37:g.215940284delA		Somatic		WXS	Illumina HiSeq	Phase_IV	Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Frame_Shift_Del	DEL	NULL	p.S74fs	ENST00000272895.7	37	c.220	CCDS33372.1	2																																																																																			ABCA12	-	NULL		0.373	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA12	HGNC	protein_coding	OTTHUMT00000337111.1	A	NM_173076		215940284	-1	no_errors	ENST00000412081	ensembl	human	novel	70_37	frame_shift_del	DEL	0.082	-
ADCY6	112	genome.wustl.edu	37	12	49167273	49167273	+	Missense_Mutation	SNP	A	A	T			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr12:49167273A>T	ENST00000307885.4	-	15	3294	c.2600T>A	c.(2599-2601)cTa>cAa	p.L867Q	ADCY6_ENST00000552090.1_5'Flank|MIR4701_ENST00000583094.1_RNA|ADCY6_ENST00000357869.3_Missense_Mutation_p.L814Q|ADCY6_ENST00000550422.1_Missense_Mutation_p.L814Q	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	867					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|dopamine receptor signaling pathway (GO:0007212)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|negative regulation of neuron projection development (GO:0010977)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						GCCAAGCAGTAGGTCATAGTT	0.527																																																	0													79.0	71.0	73.0					12																	49167273		2203	4300	6503	SO:0001583	missense	112				CCDS8767.1, CCDS8768.1	12q12-q13	2013-02-04				ENSG00000174233	4.6.1.1	"""Adenylate cyclases"""	237	protein-coding gene	gene with protein product		600294					Standard	NM_015270		Approved	AC6	uc001rsh.4	O43306		ENST00000307885.4:c.2600T>A	12.37:g.49167273A>T	ENSP00000311405:p.Leu867Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9NR75|Q9UDB0	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.L867Q	ENST00000307885.4	37	c.2600	CCDS8767.1	12	.	.	.	.	.	.	.	.	.	.	A	17.52	3.410868	0.62399	.	.	ENSG00000174233	ENST00000357869;ENST00000550422;ENST00000307885	D;D;T	0.87966	-2.32;-2.32;-1.36	5.49	5.49	0.81192	.	0.091237	0.45606	D	0.000348	D	0.85159	0.5633	L	0.60067	1.865	0.80722	D	1	P;B;B	0.51933	0.949;0.268;0.175	B;B;B	0.43155	0.41;0.111;0.077	D	0.83931	0.0306	10	0.26408	T	0.33	.	14.888	0.70584	1.0:0.0:0.0:0.0	.	98;814;867	B4DG74;O43306-2;O43306	.;.;ADCY6_HUMAN	Q	814;814;867	ENSP00000350536:L814Q;ENSP00000446730:L814Q;ENSP00000311405:L867Q	ENSP00000311405:L867Q	L	-	2	0	ADCY6	47453540	1.000000	0.71417	0.959000	0.39883	0.996000	0.88848	9.265000	0.95647	2.234000	0.73211	0.533000	0.62120	CTA	ADCY6	-	NULL		0.527	ADCY6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY6	HGNC	protein_coding	OTTHUMT00000408863.1	A	NM_020983		49167273	-1	no_errors	ENST00000307885	ensembl	human	known	70_37	missense	SNP	1.000	T
ANAPC2	29882	genome.wustl.edu	37	9	140082506	140082506	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr9:140082506C>T	ENST00000323927.2	-	2	171	c.167G>A	c.(166-168)cGg>cAg	p.R56Q	SSNA1_ENST00000322310.5_5'Flank	NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	anaphase promoting complex subunit 2	56					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		CACCGCCGCCCGGAGCTCCTC	0.637																																																	0													34.0	41.0	39.0					9																	140082506		2202	4300	6502	SO:0001583	missense	29882			AB037827	CCDS7033.1	9q34.3	2011-06-15			ENSG00000176248	ENSG00000176248		"""Anaphase promoting complex subunits"""	19989	protein-coding gene	gene with protein product		606946				11739784	Standard	NM_013366		Approved	APC2, KIAA1406	uc004clr.1	Q9UJX6	OTTHUMG00000020983	ENST00000323927.2:c.167G>A	9.37:g.140082506C>T	ENSP00000314004:p.Arg56Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VSG1|Q96DG5|Q96GG4|Q9P2E1	Missense_Mutation	SNP	pfam_Cullin_N,pfam_APC_su2_C,superfamily_Cullin_homology,smart_Cullin_homology,pfscan_Cullin_homology	p.R56Q	ENST00000323927.2	37	c.167	CCDS7033.1	9	.	.	.	.	.	.	.	.	.	.	C	13.27	2.188336	0.38609	.	.	ENSG00000176248	ENST00000323927	T	0.71222	-0.55	4.86	3.74	0.42951	.	0.587551	0.18708	N	0.133399	T	0.50531	0.1621	N	0.19112	0.55	0.30914	N	0.728729	B	0.12630	0.006	B	0.04013	0.001	T	0.46345	-0.9198	10	0.25106	T	0.35	-27.7304	7.5055	0.27542	0.0:0.7914:0.0:0.2086	.	56	Q9UJX6	ANC2_HUMAN	Q	56	ENSP00000314004:R56Q	ENSP00000314004:R56Q	R	-	2	0	ANAPC2	139202327	0.804000	0.28969	1.000000	0.80357	0.985000	0.73830	0.936000	0.28938	2.248000	0.74166	0.491000	0.48974	CGG	ANAPC2	-	NULL		0.637	ANAPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANAPC2	HGNC	protein_coding	OTTHUMT00000055315.1	C	NM_013366		140082506	-1	no_errors	ENST00000323927	ensembl	human	known	70_37	missense	SNP	0.979	T
ARMCX4	100131755	genome.wustl.edu	37	X	100743681	100743681	+	Silent	SNP	G	G	C			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chrX:100743681G>C	ENST00000423738.3	+	2	307	c.105G>C	c.(103-105)gtG>gtC	p.V35V		NM_001256155.1	NP_001243084.1	Q5H9R4	ARMX4_HUMAN	armadillo repeat containing, X-linked 4	139						integral component of membrane (GO:0016021)				lung(1)	1						CCCAGAGTGTGAGGACTCTTG	0.502																																																	0																																										SO:0001819	synonymous_variant	100131755			AK096955	CCDS59170.1	Xq22	2014-03-21	2009-11-26		ENSG00000196440	ENSG00000196440		"""Armadillo repeat containing"""	28615	protein-coding gene	gene with protein product			"""chromosome X open reading frame 35"", ""armadillo repeat containing, X-linked 4 pseudogene"""	CXorf35		16221301, 22569362	Standard	NR_028407		Approved	MGC40053, GASP4	uc031tkc.1	Q5H9R4	OTTHUMG00000022030	ENST00000423738.3:c.105G>C	X.37:g.100743681G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K928|B3KXA4|Q5H9K8|Q8N8D6	Silent	SNP	NULL	p.V139	ENST00000423738.3	37	c.417	CCDS59170.1	X																																																																																			ARMCX4	-	NULL		0.502	ARMCX4-010	PUTATIVE	upstream_ATG|upstream_uORF|basic|appris_principal|CCDS	protein_coding	ARMCX4	HGNC	protein_coding	OTTHUMT00000370455.2	G	NM_001256155		100743681	+1	no_errors	ENST00000433011	ensembl	human	known	70_37	silent	SNP	0.973	C
ARHGAP36	158763	genome.wustl.edu	37	X	130222712	130222712	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chrX:130222712C>T	ENST00000276211.5	+	12	1942	c.1597C>T	c.(1597-1599)Ccc>Tcc	p.P533S	ARHGAP36_ENST00000370922.1_Missense_Mutation_p.P521S|ARHGAP36_ENST00000370921.1_Missense_Mutation_p.P397S	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	533					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						GCTCCGTGTGCCCCGGGAGAA	0.577																																																	0													76.0	70.0	72.0					X																	130222712		2203	4300	6503	SO:0001583	missense	158763				CCDS14628.1, CCDS65320.1	Xq26.1	2011-06-29			ENSG00000147256	ENSG00000147256		"""Rho GTPase activating proteins"""	26388	protein-coding gene	gene with protein product							Standard	NM_144967		Approved	FLJ30058	uc004evz.3	Q6ZRI8	OTTHUMG00000022402	ENST00000276211.5:c.1597C>T	X.37:g.130222712C>T	ENSP00000276211:p.Pro533Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z234|B7Z439|Q5JRL9|Q5JRM0|Q5JRM1|Q96NU6	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.P533S	ENST00000276211.5	37	c.1597	CCDS14628.1	X	.	.	.	.	.	.	.	.	.	.	C	17.21	3.332391	0.60853	.	.	ENSG00000147256	ENST00000276211;ENST00000370922;ENST00000412432;ENST00000370921	T;T;T;T	0.15139	2.45;2.49;2.49;2.45	4.31	4.31	0.51392	.	0.000000	0.47455	D	0.000240	T	0.20618	0.0496	N	0.08118	0	0.30014	N	0.814947	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.994	T	0.03922	-1.0992	10	0.72032	D	0.01	.	11.0842	0.48078	0.0:1.0:0.0:0.0	.	502;521;533	Q6ZRI8-2;Q6ZRI8-4;Q6ZRI8	.;.;RHG36_HUMAN	S	533;521;502;397	ENSP00000276211:P533S;ENSP00000359960:P521S;ENSP00000408515:P502S;ENSP00000359959:P397S	ENSP00000276211:P533S	P	+	1	0	ARHGAP36	130050393	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.018000	0.49625	2.383000	0.81215	0.600000	0.82982	CCC	ARHGAP36	-	NULL		0.577	ARHGAP36-005	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP36	HGNC	protein_coding	OTTHUMT00000355073.1	C	NM_144967		130222712	+1	no_errors	ENST00000276211	ensembl	human	known	70_37	missense	SNP	1.000	T
ATXN7L3	56970	genome.wustl.edu	37	17	42274681	42274681	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr17:42274681G>A	ENST00000454077.2	-	3	270	c.271C>T	c.(271-273)Cgc>Tgc	p.R91C	ATXN7L3_ENST00000593073.1_Intron|ATXN7L3_ENST00000389384.4_Missense_Mutation_p.R91C|CTB-175E5.7_ENST00000586560.1_RNA	NM_020218.1	NP_064603.1			ataxin 7-like 3											kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		GCAATGCTGCGACTGCAATTG	0.592																																																	0													90.0	103.0	99.0					17																	42274681		2038	4183	6221	SO:0001583	missense	56970			AK056002	CCDS42345.1, CCDS45697.1	17q21	2010-03-10			ENSG00000087152	ENSG00000087152			25416	protein-coding gene	gene with protein product						15115762	Standard	NM_001098833		Approved	DKFZp761G2113	uc002ifz.3	Q14CW9		ENST00000454077.2:c.271C>T	17.37:g.42274681G>A	ENSP00000397259:p.Arg91Cys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_SAGA_su_Sgf11,pfam_SCA7_dom	p.R91C	ENST00000454077.2	37	c.271	CCDS45697.1	17	.	.	.	.	.	.	.	.	.	.	G	11.12	1.544120	0.27563	.	.	ENSG00000087152	ENST00000454077;ENST00000389384	.	.	.	4.65	3.69	0.42338	.	0.154659	0.42682	D	0.000678	T	0.54143	0.1840	M	0.73753	2.245	0.54753	D	0.999987	P;B	0.39376	0.67;0.113	B;B	0.33521	0.165;0.041	T	0.59825	-0.7381	9	0.66056	D	0.02	.	11.5142	0.50511	0.0895:0.0:0.9105:0.0	.	91;91	Q14CW9;Q14CW9-2	AT7L3_HUMAN;.	C	91	.	ENSP00000374035:R91C	R	-	1	0	ATXN7L3	39630207	1.000000	0.71417	0.868000	0.34077	0.500000	0.33767	4.536000	0.60636	0.964000	0.38108	0.561000	0.74099	CGC	ATXN7L3	-	pfam_SAGA_su_Sgf11		0.592	ATXN7L3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATXN7L3	HGNC	protein_coding	OTTHUMT00000457724.1	G			42274681	-1	no_errors	ENST00000454077	ensembl	human	known	70_37	missense	SNP	1.000	A
BCL2L11	10018	genome.wustl.edu	37	2	111921762	111921763	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr2:111921762_111921763insA	ENST00000393256.3	+	4	824_825	c.551_552insA	c.(550-555)ttacgafs	p.R185fs	BCL2L11_ENST00000308659.8_Frame_Shift_Ins_p.R125fs	NM_001204106.1|NM_006538.4|NM_138621.4|NM_138627.3	NP_001191035.1|NP_006529.1|NP_619527.1|NP_619533.1	O43521	B2L11_HUMAN	BCL2-like 11 (apoptosis facilitator)	185					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|apoptotic signaling pathway (GO:0097190)|B cell apoptotic process (GO:0001783)|B cell homeostasis (GO:0001782)|brain development (GO:0007420)|cell-matrix adhesion (GO:0007160)|cellular process regulating host cell cycle in response to virus (GO:0060154)|developmental pigmentation (GO:0048066)|ear development (GO:0043583)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|kidney development (GO:0001822)|male gonad development (GO:0008584)|mammary gland development (GO:0030879)|myeloid cell homeostasis (GO:0002262)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic process by virus (GO:0060139)|positive regulation of cell cycle (GO:0045787)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902110)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein homooligomerization (GO:0032464)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|post-embryonic organ morphogenesis (GO:0048563)|regulation of developmental pigmentation (GO:0048070)|regulation of organ growth (GO:0046620)|response to endoplasmic reticulum stress (GO:0034976)|spermatogenesis (GO:0007283)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|thymocyte apoptotic process (GO:0070242)|thymus development (GO:0048538)|tube formation (GO:0035148)	BIM-BCL-2 complex (GO:0097141)|BIM-BCL-xl complex (GO:0097140)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|mitochondrial outer membrane (GO:0005741)				endometrium(4)|large_intestine(3)|lung(2)|prostate(2)	11						ATGGTTATCTTACGACTGTTAC	0.436																																																	0																																										SO:0001589	frameshift_variant	10018			AF032458	CCDS2089.1, CCDS2092.1, CCDS42731.1, CCDS56131.1, CCDS56132.1, CCDS56133.1, CCDS56134.1, CCDS56135.1, CCDS56136.1, CCDS74560.1, CCDS74561.1, CCDS74559.1	2q13	2014-09-17			ENSG00000153094	ENSG00000153094			994	protein-coding gene	gene with protein product		603827				9731710, 9430630	Standard	NM_006538		Approved	BOD, BimL, BimEL, BimS, BIM	uc002tgv.1	O43521	OTTHUMG00000131256	ENST00000393256.3:c.552dupA	2.37:g.111921763_111921763dupA	ENSP00000376943:p.Arg185fs	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K2W2|O43522|Q0MSE7|Q0MSE8|Q0MSE9|Q53R28|Q6JTU6|Q6T851|Q6TE14|Q6TE15|Q6TE16|Q6V402|Q8WYL6|Q8WYL7|Q8WYL8|Q8WYL9|Q8WYM0|Q8WYM1	Frame_Shift_Ins	INS	pfam_Bcl-x_interacting,pfam_Apoptosis_Bim_N,pirsf_Bcl-2-like_11	p.R185fs	ENST00000393256.3	37	c.551_552	CCDS2089.1	2																																																																																			BCL2L11	-	pirsf_Bcl-2-like_11		0.436	BCL2L11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCL2L11	HGNC	protein_coding	OTTHUMT00000254022.3	-			111921763	+1	no_errors	ENST00000393256	ensembl	human	known	70_37	frame_shift_ins	INS	0.960:0.922	A
BSCL2	26580	genome.wustl.edu	37	11	62462159	62462159	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr11:62462159G>A	ENST00000403550.1	-	4	742	c.319C>T	c.(319-321)Cgt>Tgt	p.R107C	BSCL2_ENST00000360796.5_Missense_Mutation_p.R171C|BSCL2_ENST00000278893.7_Missense_Mutation_p.R107C|BSCL2_ENST00000433053.1_Missense_Mutation_p.R171C|BSCL2_ENST00000537604.1_5'UTR|HNRNPUL2-BSCL2_ENST00000403734.2_3'UTR|BSCL2_ENST00000405837.1_Missense_Mutation_p.R171C|BSCL2_ENST00000407022.3_Missense_Mutation_p.R107C|BSCL2_ENST00000421906.1_Missense_Mutation_p.R107C			Q96G97	BSCL2_HUMAN	Berardinelli-Seip congenital lipodystrophy 2 (seipin)	107					cell death (GO:0008219)|fat cell differentiation (GO:0045444)|lipid catabolic process (GO:0016042)|lipid particle organization (GO:0034389)|lipid storage (GO:0019915)|negative regulation of lipid catabolic process (GO:0050995)	integral component of endoplasmic reticulum membrane (GO:0030176)				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	12						AAGGTAACACGATACGGCTGT	0.453											OREG0021029	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													126.0	98.0	108.0					11																	62462159		2202	4299	6501	SO:0001583	missense	26580				CCDS8031.1, CCDS44627.1, CCDS55769.1	11q13	2014-09-17	2009-07-30		ENSG00000168000	ENSG00000168000			15832	protein-coding gene	gene with protein product		606158	"""spastic paraplegia 17 (Silver syndrome)"""	GNG3LG, SPG17		11479539, 14981520	Standard	NM_001122955		Approved		uc001nur.4	Q96G97	OTTHUMG00000150624	ENST00000403550.1:c.319C>T	11.37:g.62462159G>A	ENSP00000385561:p.Arg107Cys	Somatic	1061	WXS	Illumina HiSeq	Phase_IV	G3XAE4|Q567S1|Q96SV1|Q9BSQ0	Missense_Mutation	SNP	pfam_Adipose-reg_protein_Seipin	p.R171C	ENST00000403550.1	37	c.511	CCDS8031.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.36|17.36	3.368847|3.368847	0.61624|0.61624	.|.	.|.	ENSG00000168000|ENSG00000168000	ENST00000405837;ENST00000433053;ENST00000278893;ENST00000360796;ENST00000403550;ENST00000407022;ENST00000421906;ENST00000448568;ENST00000531524;ENST00000524862|ENST00000525000	D;D;D;D;D;D;D;D;D;D|.	0.88664|.	-2.41;-2.41;-2.41;-2.41;-2.41;-2.41;-2.41;-2.41;-2.41;-2.41|.	5.42|5.42	4.51|4.51	0.55191|0.55191	.|.	0.158657|.	0.38605|.	U|.	0.001627|.	T|T	0.63236|0.63236	0.2494|0.2494	L|L	0.59436|0.59436	1.845|1.845	0.54753|0.54753	D|D	0.999982|0.999982	D;D;D;D|.	0.89917|.	1.0;0.999;0.999;1.0|.	D;D;P;D|.	0.68621|.	0.931;0.939;0.899;0.959|.	T|T	0.61436|0.61436	-0.7063|-0.7063	10|5	0.52906|.	T|.	0.07|.	-6.9672|-6.9672	11.8577|11.8577	0.52449|0.52449	0.0857:0.0:0.9143:0.0|0.0857:0.0:0.9143:0.0	.|.	107;107;171;107|.	Q96G97-3;Q53EN3;G3XAE4;Q96G97|.	.;.;.;BSCL2_HUMAN|.	C|L	171;171;107;171;107;107;107;107;38;171|48	ENSP00000385332:R171C;ENSP00000414002:R171C;ENSP00000278893:R107C;ENSP00000354032:R171C;ENSP00000385561:R107C;ENSP00000384080:R107C;ENSP00000413209:R107C;ENSP00000413340:R107C;ENSP00000436026:R38C;ENSP00000433888:R171C|.	ENSP00000278893:R107C|.	R|S	-|-	1|2	0|0	BSCL2|BSCL2	62218735|62218735	1.000000|1.000000	0.71417|0.71417	0.398000|0.398000	0.26321|0.26321	0.936000|0.936000	0.57629|0.57629	2.601000|2.601000	0.46249|0.46249	1.289000|1.289000	0.44618|0.44618	0.563000|0.563000	0.77884|0.77884	CGT|TCG	BSCL2	-	pfam_Adipose-reg_protein_Seipin		0.453	BSCL2-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	BSCL2	HGNC	protein_coding	OTTHUMT00000319185.1	G	NM_032667		62462159	-1	no_errors	ENST00000360796	ensembl	human	known	70_37	missense	SNP	0.964	A
GAS8	2622	genome.wustl.edu	37	16	90095558	90095558	+	Intron	SNP	C	C	T	rs76646627		TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr16:90095558C>T	ENST00000268699.4	+	2	212				C16orf3_ENST00000408886.2_Missense_Mutation_p.G65S|GAS8_ENST00000540721.1_Intron|GAS8_ENST00000536122.1_Intron	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN	growth arrest-specific 8						cellular protein localization (GO:0034613)|negative regulation of cell proliferation (GO:0008285)|sperm motility (GO:0030317)	Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile cilium (GO:0031514)		p.G65S(1)		endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.029)		acggggcagcctacggggcag	0.672																																																	1	Substitution - Missense(1)	lung(1)											25.0	20.0	21.0					16																	90095558		2191	4298	6489	SO:0001627	intron_variant	750			AF050079	CCDS10992.1, CCDS67101.1, CCDS73932.1	16q24.3	2014-07-18	2003-01-16	2003-01-17	ENSG00000141013	ENSG00000141013			4166	protein-coding gene	gene with protein product		605178	"""growth arrest-specific 11"""	GAS11		9790751	Standard	NM_001481		Approved		uc002fqi.1	O95995	OTTHUMG00000138988	ENST00000268699.4:c.90+1428C>T	16.37:g.90095558C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RCT1|B7Z4U1|G3V1L5|Q2M234	Missense_Mutation	SNP	NULL	p.G65S	ENST00000268699.4	37	c.193	CCDS10992.1	16	.	.	.	.	.	.	.	.	.	.	C	9.046	0.990885	0.18966	.	.	ENSG00000221819	ENST00000408886	T	0.57595	0.39	1.2	-1.14	0.09741	.	.	.	.	.	T	0.23492	0.0568	N	0.08118	0	0.09310	N	1	B	0.22604	0.072	B	0.14578	0.011	T	0.14755	-1.0461	8	.	.	.	.	2.4936	0.04616	0.0:0.4385:0.3231:0.2384	.	73	O95177	CP003_HUMAN	S	65	ENSP00000386218:G65S	.	G	-	1	0	C16orf3	88623059	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.145000	0.10265	-0.326000	0.08564	0.407000	0.27541	GGC	C16orf3	-	NULL		0.672	GAS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C16orf3	HGNC	protein_coding	OTTHUMT00000272877.2	C			90095558	-1	no_errors	ENST00000408886	ensembl	human	known	70_37	missense	SNP	0.000	T
CACNG7	59284	genome.wustl.edu	37	19	54418666	54418666	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr19:54418666G>A	ENST00000391767.1	+	4	543	c.331G>A	c.(331-333)Gtg>Atg	p.V111M	CACNG7_ENST00000391766.1_Missense_Mutation_p.V111M|CACNG7_ENST00000222212.2_Missense_Mutation_p.V111M|CACNG7_ENST00000468076.1_3'UTR			P62955	CCG7_HUMAN	calcium channel, voltage-dependent, gamma subunit 7	111					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		CCTCTTCCTCGTGTTCACGGC	0.607																																																	0													108.0	90.0	96.0					19																	54418666		2203	4300	6503	SO:0001583	missense	59284			AF288387	CCDS12868.1	19q13.4	2008-05-02			ENSG00000105605	ENSG00000105605		"""Calcium channel subunits"""	13626	protein-coding gene	gene with protein product		606899				11170751	Standard	NM_031896		Approved		uc002qcr.2	P62955	OTTHUMG00000064852	ENST00000391767.1:c.331G>A	19.37:g.54418666G>A	ENSP00000375647:p.Val111Met	Somatic		WXS	Illumina HiSeq	Phase_IV	Q52LL8|Q8VBX3|Q8WXS6|Q9BXT1	Missense_Mutation	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_g7su,prints_VDCC_gsu	p.V111M	ENST00000391767.1	37	c.331	CCDS12868.1	19	.	.	.	.	.	.	.	.	.	.	G	13.22	2.171461	0.38315	.	.	ENSG00000105605	ENST00000391767;ENST00000222212;ENST00000391766	D;D;D	0.88741	-2.42;-2.42;-2.42	3.77	3.77	0.43336	.	0.000000	0.85682	D	0.000000	T	0.71787	0.3381	N	0.02142	-0.665	0.80722	D	1	B	0.25351	0.124	B	0.23852	0.049	T	0.69224	-0.5201	10	0.16896	T	0.51	-24.3482	13.9093	0.63857	0.0:0.0:1.0:0.0	.	111	P62955	CCG7_HUMAN	M	111	ENSP00000375647:V111M;ENSP00000222212:V111M;ENSP00000375646:V111M	ENSP00000222212:V111M	V	+	1	0	CACNG7	59110478	0.999000	0.42202	0.939000	0.37840	0.976000	0.68499	2.906000	0.48735	2.381000	0.81170	0.563000	0.77884	GTG	CACNG7	-	pfam_PMP22/EMP/MP20/Claudin		0.607	CACNG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNG7	HGNC	protein_coding	OTTHUMT00000139240.2	G			54418666	+1	no_errors	ENST00000222212	ensembl	human	known	70_37	missense	SNP	0.998	A
CADM1	23705	genome.wustl.edu	37	11	115375115	115375115	+	5'UTR	SNP	C	C	T			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr11:115375115C>T	ENST00000452722.3	-	0	18				CADM1_ENST00000536727.1_5'UTR|CADM1_ENST00000331581.6_5'UTR|CADM1_ENST00000537140.1_5'UTR|CADM1_ENST00000537058.1_5'UTR|CADM1_ENST00000542447.2_5'UTR	NM_014333.3	NP_055148.3			cell adhesion molecule 1											cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		CTCGCCATGTCGGGCACCTGC	0.692																																																	0													2.0	4.0	3.0					11																	115375115		1583	3119	4702	SO:0001623	5_prime_UTR_variant	23705			AB017563	CCDS8373.1, CCDS53711.1, CCDS73397.1, CCDS73398.1, CCDS73399.1	11q23.2	2013-01-29	2007-02-07	2007-02-07	ENSG00000182985	ENSG00000182985		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5951	protein-coding gene	gene with protein product	"""nectin-like 2"""	605686	"""tumor suppressor in lung cancer 1"", ""immunoglobulin superfamily, member 4"""	TSLC1, IGSF4		10610705	Standard	NM_014333		Approved	NECL2, ST17, BL2, SYNCAM, IGSF4A, Necl-2, SYNCAM1, RA175	uc001ppi.4	Q9BY67	OTTHUMG00000168202	ENST00000452722.3:c.-3G>A	11.37:g.115375115C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000452722.3	37	NULL	CCDS8373.1	11																																																																																			CADM1	-	-		0.692	CADM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CADM1	HGNC	protein_coding	OTTHUMT00000398753.2	C	NM_014333		115375115	-1	no_errors	ENST00000537140	ensembl	human	known	70_37	rna	SNP	1.000	T
CASK	8573	genome.wustl.edu	37	X	41419101	41419101	+	Splice_Site	SNP	C	C	T			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chrX:41419101C>T	ENST00000378163.1	-	18	2143		c.e18-1		CASK_ENST00000378158.1_Splice_Site|CASK_ENST00000361962.4_Splice_Site|CASK_ENST00000421587.2_Splice_Site|CASK_ENST00000472704.1_Splice_Site|CASK_ENST00000378154.1_Splice_Site|CASK_ENST00000442742.2_Splice_Site|CASK_ENST00000318588.9_Splice_Site|CASK_ENST00000378166.4_Splice_Site			O14936	CSKP_HUMAN	calcium/calmodulin-dependent serine protein kinase (MAGUK family)						calcium ion import (GO:0070509)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of wound healing (GO:0061045)|nucleotide phosphorylation (GO:0046939)|positive regulation of calcium ion import (GO:0090280)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	actin cytoskeleton (GO:0015629)|basement membrane (GO:0005604)|basolateral plasma membrane (GO:0016323)|cell-cell junction (GO:0005911)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nuclear lamina (GO:0005652)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1)	32						GCATTTCCCTCTGGAGGGGGG	0.468																																					NSCLC(42;104 1086 3090 27189 35040)												0													56.0	44.0	48.0					X																	41419101		2203	4300	6503	SO:0001630	splice_region_variant	8573			AF035582	CCDS14257.1, CCDS48094.1, CCDS48095.1	Xp11.4	2010-02-09			ENSG00000147044	ENSG00000147044			1497	protein-coding gene	gene with protein product		300172	"""trinucleotide repeat containing 8"""	TNRC8		9722958	Standard	NM_003688		Approved	LIN2, CAGH39, FGS4	uc004dfl.4	O14936	OTTHUMG00000021378	ENST00000378163.1:c.1669-1G>A	X.37:g.41419101C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NES1|B7ZKY0|O43215|Q17RI4|Q59HA0|Q5VT16|Q5VT17|Q5VT18|Q5VT19|Q66T42|Q9BYH6|Q9NYB2|Q9NYB3	Splice_Site	SNP	-	e18-1	ENST00000378163.1	37	c.1669-1		X	.	.	.	.	.	.	.	.	.	.	C	21.5	4.164017	0.78339	.	.	ENSG00000147044	ENST00000421587;ENST00000318588;ENST00000361962;ENST00000378163;ENST00000378179;ENST00000378168;ENST00000378158;ENST00000378166;ENST00000442742;ENST00000378154	.	.	.	5.96	5.96	0.96718	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3572	0.94420	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CASK	41304045	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	7.487000	0.81328	2.524000	0.85096	0.600000	0.82982	.	CASK	-	-		0.468	CASK-007	KNOWN	basic|appris_candidate_longest	protein_coding	CASK	HGNC	protein_coding	OTTHUMT00000056285.1	C	NM_003688	Intron	41419101	-1	no_errors	ENST00000378163	ensembl	human	known	70_37	splice_site	SNP	1.000	T
CHD6	84181	genome.wustl.edu	37	20	40141618	40141618	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr20:40141618C>T	ENST00000373233.3	-	5	896	c.719G>A	c.(718-720)aGg>aAg	p.R240K	CHD6_ENST00000373222.3_Missense_Mutation_p.R275K|CHD6_ENST00000309279.7_Missense_Mutation_p.R240K	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	240	Required for DNA-dependent ATPase activity.				ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CTTTACTTGCCTTCCCGAGCG	0.468																																																	0													407.0	337.0	361.0					20																	40141618		2203	4300	6503	SO:0001583	missense	84181			AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.719G>A	20.37:g.40141618C>T	ENSP00000362330:p.Arg240Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_BRK_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.R240K	ENST00000373233.3	37	c.719	CCDS13317.1	20	.	.	.	.	.	.	.	.	.	.	C	35	5.422829	0.96111	.	.	ENSG00000124177	ENST00000373233;ENST00000309279;ENST00000373222	T;T;T	0.65549	-0.16;-0.16;-0.16	5.47	5.47	0.80525	.	0.000000	0.52532	D	0.000068	T	0.79106	0.4390	M	0.69358	2.11	0.50813	D	0.999895	D;D	0.76494	0.999;0.999	D;D	0.85130	0.994;0.997	T	0.80434	-0.1384	10	0.72032	D	0.01	-15.9389	19.3358	0.94319	0.0:1.0:0.0:0.0	.	275;240	Q8TD26-2;Q8TD26	.;CHD6_HUMAN	K	240;240;275	ENSP00000362330:R240K;ENSP00000308684:R240K;ENSP00000362319:R275K	ENSP00000308684:R240K	R	-	2	0	CHD6	39575032	1.000000	0.71417	0.998000	0.56505	0.816000	0.46133	7.399000	0.79935	2.578000	0.87016	0.655000	0.94253	AGG	CHD6	-	NULL		0.468	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD6	HGNC	protein_coding	OTTHUMT00000079270.1	C			40141618	-1	no_errors	ENST00000373233	ensembl	human	known	70_37	missense	SNP	1.000	T
CHRND	1144	genome.wustl.edu	37	2	233394711	233394711	+	Silent	SNP	C	C	T			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr2:233394711C>T	ENST00000258385.3	+	7	714	c.682C>T	c.(682-684)Ctg>Ttg	p.L228L	CHRND_ENST00000543200.1_Silent_p.L213L|CHRND_ENST00000536614.1_Missense_Mutation_p.S191F|CHRND_ENST00000457943.2_Intron	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN	cholinergic receptor, nicotinic, delta (muscle)	228					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|musculoskeletal movement (GO:0050881)|neuromuscular process (GO:0050905)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|skeletal muscle tissue growth (GO:0048630)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)	Galantamine(DB00674)	CAGAGCCCCTCTGGACAGCCC	0.627																																																	0													122.0	106.0	112.0					2																	233394711		2203	4300	6503	SO:0001819	synonymous_variant	1144			X55019	CCDS2494.1, CCDS58754.1	2q37.1	2012-02-11	2012-02-07		ENSG00000135902	ENSG00000135902		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1965	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, delta (muscle)"""	100720	"""cholinergic receptor, nicotinic, delta"""	ACHRD			Standard	NM_000751		Approved		uc002vsw.4	Q07001	OTTHUMG00000133261	ENST00000258385.3:c.682C>T	2.37:g.233394711C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K661|B4DT92|Q52LH4	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel	p.S191F	ENST00000258385.3	37	c.572	CCDS2494.1	2	.	.	.	.	.	.	.	.	.	.	C	16.22	3.061736	0.55432	.	.	ENSG00000135902	ENST00000536614	T	0.73363	-0.74	5.02	3.15	0.36227	.	.	.	.	.	T	0.72906	0.3519	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.63256	-0.6678	6	0.56958	D	0.05	.	8.8727	0.35325	0.2715:0.6565:0.0:0.072	.	.	.	.	F	191	ENSP00000437740:S191F	ENSP00000408819:S191F	S	+	2	0	CHRND	233102955	0.000000	0.05858	0.588000	0.28705	0.986000	0.74619	1.117000	0.31234	0.599000	0.29845	0.655000	0.94253	TCT	CHRND	-	NULL		0.627	CHRND-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRND	HGNC	protein_coding	OTTHUMT00000257038.2	C			233394711	+1	no_errors	ENST00000441621	ensembl	human	known	70_37	missense	SNP	0.037	T
CLEC14A	161198	genome.wustl.edu	37	14	38723786	38723786	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr14:38723786G>A	ENST00000342213.2	-	1	1788	c.1442C>T	c.(1441-1443)gCg>gTg	p.A481V		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	481						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		AGGGGACTCCGCCAGCAAGGC	0.547																																																	0													71.0	73.0	72.0					14																	38723786		2203	4300	6503	SO:0001583	missense	161198				CCDS9667.1	14q21.1	2010-04-27	2005-02-11	2005-02-11	ENSG00000176435	ENSG00000176435		"""C-type lectin domain containing"""	19832	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 27"""	C14orf27			Standard	NM_175060		Approved		uc001wum.2	Q86T13	OTTHUMG00000140248	ENST00000342213.2:c.1442C>T	14.37:g.38723786G>A	ENSP00000353013:p.Ala481Val	Somatic		WXS	Illumina HiSeq	Phase_IV	Q695G9|Q6PWT6|Q8N5V5	Missense_Mutation	SNP	superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.A481V	ENST00000342213.2	37	c.1442	CCDS9667.1	14	.	.	.	.	.	.	.	.	.	.	G	13.42	2.230424	0.39399	.	.	ENSG00000176435	ENST00000342213	T	0.75589	-0.95	4.86	-0.646	0.11472	.	1.197340	0.06536	N	0.742457	T	0.53481	0.1799	N	0.14661	0.345	0.09310	N	1	B	0.24132	0.098	B	0.12156	0.007	T	0.44236	-0.9341	10	0.59425	D	0.04	0.0971	3.6936	0.08355	0.3781:0.0:0.4563:0.1656	.	481	Q86T13	CLC14_HUMAN	V	481	ENSP00000353013:A481V	ENSP00000353013:A481V	A	-	2	0	CLEC14A	37793537	0.000000	0.05858	0.001000	0.08648	0.150000	0.21749	-0.004000	0.12878	0.046000	0.15833	0.563000	0.77884	GCG	CLEC14A	-	NULL		0.547	CLEC14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC14A	HGNC	protein_coding	OTTHUMT00000276729.1	G	NM_175060		38723786	-1	no_errors	ENST00000342213	ensembl	human	known	70_37	missense	SNP	0.000	A
CNKSR1	10256	genome.wustl.edu	37	1	26513934	26513934	+	Missense_Mutation	SNP	C	C	A			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr1:26513934C>A	ENST00000374253.5	+	16	1475	c.1436C>A	c.(1435-1437)cCc>cAc	p.P479H	CNKSR1_ENST00000361530.6_Missense_Mutation_p.P472H|CNKSR1_ENST00000531191.1_Missense_Mutation_p.P214H	NM_006314.2	NP_006305.2	Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	479	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				Ras protein signal transduction (GO:0007265)|Rho protein signal transduction (GO:0007266)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|plasma membrane (GO:0005886)	protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		GTGTACAAACCCTTCATCTTC	0.552																																					NSCLC(180;1396 2109 28270 30756 34275)												0													170.0	148.0	156.0					1																	26513934		2203	4300	6503	SO:0001583	missense	10256			AF100153	CCDS276.1, CCDS72732.1	1p35.3	2013-01-10			ENSG00000142675	ENSG00000142675		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	19700	protein-coding gene	gene with protein product		603272				9814705	Standard	NM_006314		Approved	CNK1, KSR, CNK	uc001blm.4	Q969H4	OTTHUMG00000007541	ENST00000374253.5:c.1436C>A	1.37:g.26513934C>A	ENSP00000363371:p.Pro479His	Somatic		WXS	Illumina HiSeq	Phase_IV	B1AMW9|O95381	Missense_Mutation	SNP	pfam_CRIC_domain_Chordata,pfam_Pleckstrin_homology,pfam_SAM_type1,superfamily_SAM/pointed,superfamily_PDZ,smart_SAM,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_SAM	p.P479H	ENST00000374253.5	37	c.1436		1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.286779	0.80803	.	.	ENSG00000142675	ENST00000361530;ENST00000374253;ENST00000531191	T;T;T	0.11930	2.73;2.73;2.73	5.56	5.56	0.83823	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.115114	0.56097	D	0.000021	T	0.33118	0.0852	L	0.44542	1.39	0.46981	D	0.999278	D;D	0.89917	1.0;1.0	D;D	0.83275	0.995;0.996	T	0.01583	-1.1319	10	0.72032	D	0.01	-23.6731	19.5245	0.95199	0.0:1.0:0.0:0.0	.	479;472	Q969H4;Q53GM7	CNKR1_HUMAN;.	H	472;479;214	ENSP00000354609:P472H;ENSP00000363371:P479H;ENSP00000431817:P214H	ENSP00000354609:P472H	P	+	2	0	CNKSR1	26386521	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.818000	0.62657	2.608000	0.88229	0.655000	0.94253	CCC	CNKSR1	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.552	CNKSR1-007	KNOWN	basic	protein_coding	CNKSR1	HGNC	protein_coding	OTTHUMT00000089943.2	C	NM_006314		26513934	+1	no_errors	ENST00000374253	ensembl	human	known	70_37	missense	SNP	1.000	A
CNTNAP4	85445	genome.wustl.edu	37	16	76482704	76482704	+	Silent	SNP	C	C	T			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr16:76482704C>T	ENST00000476707.1	+	5	931	c.792C>T	c.(790-792)ctC>ctT	p.L264L	CNTNAP4_ENST00000307431.8_Silent_p.L260L|CNTNAP4_ENST00000478060.1_Silent_p.L236L|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000377504.4_Silent_p.L260L			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	261	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TGGTCAATCTCACCCTGGGCA	0.453																																																	0													114.0	92.0	100.0					16																	76482704		2198	4300	6498	SO:0001819	synonymous_variant	85445			AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.792C>T	16.37:g.76482704C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	E9PFZ6|Q86YZ7	Silent	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.L260	ENST00000476707.1	37	c.780		16																																																																																			CNTNAP4	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.453	CNTNAP4-005	PUTATIVE	basic	protein_coding	CNTNAP4	HGNC	protein_coding	OTTHUMT00000348216.1	C	NM_033401		76482704	+1	no_errors	ENST00000307431	ensembl	human	known	70_37	silent	SNP	0.993	T
COL9A2	1298	genome.wustl.edu	37	1	40773118	40773118	+	Splice_Site	SNP	C	C	T			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr1:40773118C>T	ENST00000372748.3	-	19	1104	c.1008G>A	c.(1006-1008)gcG>gcA	p.A336A	COL9A2_ENST00000466267.1_5'Flank	NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	collagen, type IX, alpha 2	336	Triple-helical region 3 (COL3).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			TGACACTTACCGCTAGGCCCT	0.582																																																	0													32.0	34.0	33.0					1																	40773118		2203	4300	6503	SO:0001630	splice_region_variant	1298			M95610	CCDS450.1	1p33-p32	2013-01-16			ENSG00000049089	ENSG00000049089		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2218	protein-coding gene	gene with protein product		120260		EDM2		8454052, 8528240, 1429648	Standard	NM_001852		Approved	MED	uc001cfh.1	Q14055	OTTHUMG00000005761	ENST00000372748.3:c.1008+1G>A	1.37:g.40773118C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RMP9	Silent	SNP	pfam_Collagen	p.A336	ENST00000372748.3	37	c.1008	CCDS450.1	1																																																																																			COL9A2	-	NULL		0.582	COL9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL9A2	HGNC	protein_coding	OTTHUMT00000015764.3	C	NM_001852	Silent	40773118	-1	no_errors	ENST00000372748	ensembl	human	known	70_37	silent	SNP	0.992	T
COLEC12	81035	genome.wustl.edu	37	18	334982	334982	+	Missense_Mutation	SNP	G	G	T			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr18:334982G>T	ENST00000400256.3	-	6	1783	c.1576C>A	c.(1576-1578)Cca>Aca	p.P526T		NM_130386.2	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	526	Collagen-like 2.				carbohydrate mediated signaling (GO:0009756)|defense response (GO:0006952)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)|phagocytosis, recognition (GO:0006910)|protein homooligomerization (GO:0051260)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galactose binding (GO:0005534)|low-density lipoprotein particle binding (GO:0030169)|metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				GGGGGGCCTGGGTCCCCACTG	0.721																																																	0													10.0	13.0	12.0					18																	334982		2133	4211	6344	SO:0001583	missense	81035			AB038518	CCDS32782.1	18p11.32	2013-09-19			ENSG00000158270	ENSG00000158270		"""Collectins"""	16016	protein-coding gene	gene with protein product		607621				11162630	Standard	NM_130386		Approved	SRCL, CL-P1, SCARA4	uc002kkm.3	Q5KU26	OTTHUMG00000178145	ENST00000400256.3:c.1576C>A	18.37:g.334982G>T	ENSP00000383115:p.Pro526Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6P9F2|Q8TCR2|Q8WZA4|Q9BY85|Q9BYH7	Missense_Mutation	SNP	pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin	p.P526T	ENST00000400256.3	37	c.1576	CCDS32782.1	18	.	.	.	.	.	.	.	.	.	.	G	11.65	1.702968	0.30232	.	.	ENSG00000158270	ENST00000400256	D	0.94330	-3.4	5.67	4.79	0.61399	.	0.000000	0.85682	D	0.000000	D	0.90848	0.7125	L	0.52126	1.63	0.80722	D	1	P	0.41313	0.745	B	0.37346	0.247	D	0.90054	0.4151	10	0.44086	T	0.13	-12.1849	16.6212	0.84931	0.0:0.1303:0.8697:0.0	.	526	Q5KU26	COL12_HUMAN	T	526	ENSP00000383115:P526T	ENSP00000383115:P526T	P	-	1	0	COLEC12	324982	1.000000	0.71417	0.993000	0.49108	0.041000	0.13682	9.725000	0.98778	1.368000	0.46115	-0.175000	0.13238	CCA	COLEC12	-	pfam_Collagen		0.721	COLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COLEC12	HGNC	protein_coding	OTTHUMT00000440746.1	G			334982	-1	no_errors	ENST00000400256	ensembl	human	known	70_37	missense	SNP	1.000	T
CSF2RB	1439	genome.wustl.edu	37	22	37330014	37330014	+	Silent	SNP	G	G	A			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr22:37330014G>A	ENST00000403662.3	+	10	1515	c.1293G>A	c.(1291-1293)gcG>gcA	p.A431A	CSF2RB_ENST00000262825.5_Silent_p.A437A|CSF2RB_ENST00000536485.1_Silent_p.A378A|CSF2RB_ENST00000406230.1_Silent_p.A437A			P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	431	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)|interleukin-5-mediated signaling pathway (GO:0038043)|respiratory gaseous exchange (GO:0007585)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	granulocyte macrophage colony-stimulating factor receptor complex (GO:0030526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	GGAGTGAGGCGCGCTCCTGGG	0.637																																																	0													54.0	53.0	53.0					22																	37330014		2203	4300	6503	SO:0001819	synonymous_variant	1439			M59941	CCDS13936.1	22q12.3	2014-09-09			ENSG00000100368	ENSG00000100368		"""CD molecules"", ""Fibronectin type III domain containing"""	2436	protein-coding gene	gene with protein product		138981		IL3RB		1833064, 1424804	Standard	NM_000395		Approved	IL5RB, CD131	uc003aqa.4	P32927	OTTHUMG00000150546	ENST00000403662.3:c.1293G>A	22.37:g.37330014G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5JZI1|Q6ICE0	Silent	SNP	pfam_Fibronectin_type3,pfam_IL6_recept-bd,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pirsf_IL3_rcpt_beta,pfscan_Fibronectin_type3	p.A437	ENST00000403662.3	37	c.1311	CCDS13936.1	22																																																																																			CSF2RB	-	superfamily_Fibronectin_type3,pirsf_IL3_rcpt_beta,pfscan_Fibronectin_type3		0.637	CSF2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSF2RB	HGNC	protein_coding	OTTHUMT00000318854.1	G	NM_000395		37330014	+1	no_errors	ENST00000262825	ensembl	human	known	70_37	silent	SNP	0.002	A
CSMD3	114788	genome.wustl.edu	37	8	113259313	113259313	+	Missense_Mutation	SNP	T	T	A			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr8:113259313T>A	ENST00000297405.5	-	64	10402	c.10158A>T	c.(10156-10158)caA>caT	p.Q3386H	CSMD3_ENST00000455883.2_Missense_Mutation_p.Q3217H|CSMD3_ENST00000343508.3_Missense_Mutation_p.Q3346H|CSMD3_ENST00000352409.3_Missense_Mutation_p.Q3316H	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3386	Sushi 27. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTGTAGACCCTTGGAGAAGGT	0.408										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							0													136.0	120.0	125.0					8																	113259313		2203	4300	6503	SO:0001583	missense	114788			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.10158A>T	8.37:g.113259313T>A	ENSP00000297405:p.Gln3386His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q96PZ3	Missense_Mutation	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.Q3386H	ENST00000297405.5	37	c.10158	CCDS6315.1	8	.	.	.	.	.	.	.	.	.	.	T	12.75	2.030918	0.35797	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2;-0.2	4.79	0.955	0.19602	Complement control module (2);Sushi/SCR/CCP (3);	0.272209	0.31092	N	0.008268	T	0.47395	0.1443	L	0.44542	1.39	0.31399	N	0.676952	B;B;B	0.14012	0.0;0.001;0.009	B;B;B	0.23419	0.005;0.006;0.046	T	0.40384	-0.9566	10	0.42905	T	0.14	.	3.8807	0.09077	0.2283:0.2692:0.0:0.5025	.	3217;3386;3346	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	H	3346;3386;2656;3217;3316	ENSP00000345799:Q3346H;ENSP00000297405:Q3386H;ENSP00000341558:Q2656H;ENSP00000412263:Q3217H;ENSP00000343124:Q3316H	ENSP00000297405:Q3386H	Q	-	3	2	CSMD3	113328489	0.999000	0.42202	0.997000	0.53966	0.709000	0.40893	0.574000	0.23714	0.073000	0.16731	0.377000	0.23210	CAA	CSMD3	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.408	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	HGNC	protein_coding	OTTHUMT00000347141.1	T	NM_052900		113259313	-1	no_errors	ENST00000297405	ensembl	human	known	70_37	missense	SNP	1.000	A
CTNNBIP1	56998	genome.wustl.edu	37	1	9932074	9932074	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr1:9932074G>A	ENST00000377263.1	-	4	360	c.49C>T	c.(49-51)Cag>Tag	p.Q17*	CTNNBIP1_ENST00000400904.3_Nonsense_Mutation_p.Q17*|CTNNBIP1_ENST00000377256.1_Nonsense_Mutation_p.Q17*|CTNNBIP1_ENST00000537447.1_Nonsense_Mutation_p.Q17*|CTNNBIP1_ENST00000377258.1_Nonsense_Mutation_p.Q17*	NM_001012329.1|NM_020248.2	NP_001012329.1|NP_064633.1	Q9NSA3	CNBP1_HUMAN	catenin, beta interacting protein 1	17					anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|negative regulation of DNA binding (GO:0043392)|negative regulation of mesenchymal cell proliferation (GO:0072201)|negative regulation of protein binding (GO:0032091)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription initiation from RNA polymerase II promoter (GO:0060633)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of monocyte differentiation (GO:0045657)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of vascular permeability involved in acute inflammatory response (GO:0002528)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)	p.Q17*(1)		cervix(1)|large_intestine(1)|lung(1)	3		all_lung(284;1.82e-05)|Lung NSC(185;3.08e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;7.32e-08)|COAD - Colon adenocarcinoma(227;1.73e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000912)|KIRC - Kidney renal clear cell carcinoma(229;0.00112)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		ACCTTCTGCTGAATGTACATC	0.627																																																	1	Substitution - Nonsense(1)	cervix(1)											121.0	107.0	112.0					1																	9932074		2203	4300	6503	SO:0001587	stop_gained	56998			AB021262	CCDS106.1	1p36.22	2013-09-19	2001-11-29		ENSG00000178585	ENSG00000178585			16913	protein-coding gene	gene with protein product	"""beta-catenin-interacting protein ICAT"", ""inhibitor of beta-catenin and Tcf-4"""	607758	"""catenin, beta-interacting protein 1"""			10898789	Standard	XM_006710779		Approved	ICAT, MGC15093	uc001aql.1	Q9NSA3	OTTHUMG00000001796	ENST00000377263.1:c.49C>T	1.37:g.9932074G>A	ENSP00000366474:p.Gln17*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5T4V2	Nonsense_Mutation	SNP	pfam_ICAT,superfamily_ICAT	p.Q17*	ENST00000377263.1	37	c.49	CCDS106.1	1	.	.	.	.	.	.	.	.	.	.	G	41	8.876079	0.98986	.	.	ENSG00000178585	ENST00000377263;ENST00000537447;ENST00000400904;ENST00000377258;ENST00000377256	.	.	.	5.23	5.23	0.72850	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-20.3223	17.5659	0.87919	0.0:0.0:1.0:0.0	.	.	.	.	X	17	.	.	Q	-	1	0	CTNNBIP1	9854661	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.011000	0.93618	2.451000	0.82905	0.484000	0.47621	CAG	CTNNBIP1	-	pfam_ICAT,superfamily_ICAT		0.627	CTNNBIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTNNBIP1	HGNC	protein_coding	OTTHUMT00000005012.1	G	NM_020248		9932074	-1	no_errors	ENST00000377256	ensembl	human	known	70_37	nonsense	SNP	1.000	A
DAPP1	27071	genome.wustl.edu	37	4	100774415	100774415	+	Silent	SNP	G	G	A			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr4:100774415G>A	ENST00000512369.1	+	4	467	c.399G>A	c.(397-399)gtG>gtA	p.V133V	DAPP1_ENST00000296414.7_Silent_p.V133V	NM_014395.2	NP_055210.2	Q9UN19	DAPP1_HUMAN	dual adaptor of phosphotyrosine and 3-phosphoinositides	133					protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phospholipid binding (GO:0005543)			endometrium(1)|kidney(1)|lung(4)	6				OV - Ovarian serous cystadenocarcinoma(123;7.04e-09)		CAAGAAAAGTGGAAGAACCCT	0.443																																																	0													106.0	98.0	101.0					4																	100774415		1897	4111	6008	SO:0001819	synonymous_variant	27071			AF186022	CCDS47112.1	4q25-q27	2013-02-14			ENSG00000070190	ENSG00000070190		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	16500	protein-coding gene	gene with protein product		605768				10432293	Standard	NM_014395		Approved	BAM32	uc003hvf.4	Q9UN19	OTTHUMG00000160974	ENST00000512369.1:c.399G>A	4.37:g.100774415G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8TCK5|Q9UHF2	Silent	SNP	pfam_SH2,pfam_Pleckstrin_homology,smart_SH2,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH2,prints_SH2	p.V133	ENST00000512369.1	37	c.399	CCDS47112.1	4																																																																																			DAPP1	-	NULL		0.443	DAPP1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DAPP1	HGNC	protein_coding	OTTHUMT00000363215.1	G			100774415	+1	no_errors	ENST00000512369	ensembl	human	known	70_37	silent	SNP	1.000	A
DGKI	9162	genome.wustl.edu	37	7	137294323	137294323	+	Silent	SNP	C	C	T			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr7:137294323C>T	ENST00000288490.5	-	9	1026	c.1026G>A	c.(1024-1026)aaG>aaA	p.K342K	DGKI_ENST00000453654.2_Silent_p.K42K|DGKI_ENST00000446122.1_Silent_p.K342K|DGKI_ENST00000424189.2_Silent_p.K342K	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	342					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|positive regulation of Ras protein signal transduction (GO:0046579)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of Rap GTPase activity (GO:0032317)	cytoplasm (GO:0005737)|guanyl-nucleotide exchange factor complex (GO:0032045)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						AGCTTGTTCTCTTCTTCTTCC	0.443																																																	0													154.0	129.0	137.0					7																	137294323		2203	4300	6503	SO:0001819	synonymous_variant	9162			AF061936	CCDS5845.1	7q32.3-q33	2013-01-10			ENSG00000157680	ENSG00000157680		"""Ankyrin repeat domain containing"""	2855	protein-coding gene	gene with protein product		604072				9830018	Standard	NM_004717		Approved	DGK-IOTA	uc003vtt.3	O75912	OTTHUMG00000155697	ENST00000288490.5:c.1026G>A	7.37:g.137294323C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A4D1Q9|Q9NZ49	Silent	SNP	pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.K342	ENST00000288490.5	37	c.1026	CCDS5845.1	7																																																																																			DGKI	-	NULL		0.443	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DGKI	HGNC	protein_coding	OTTHUMT00000341286.3	C	NM_004717		137294323	-1	no_errors	ENST00000424189	ensembl	human	known	70_37	silent	SNP	1.000	T
DIO3OS	64150	genome.wustl.edu	37	14	102024018	102024018	+	lincRNA	SNP	G	G	A			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr14:102024018G>A	ENST00000408206.1	-	0	272					NR_031649.1				DIO3 opposite strand/antisense RNA (head to head)																		GAGGCCAGTGGAGGGGACAGA	0.587																																																	0																																												64150			AF305836		14q32.31	2012-10-19	2012-10-15	2011-11-14		ENSG00000258498		"""Long non-coding RNAs"", ""-"""	20348	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 41"""	608523	"""chromosome 14 open reading frame 134"", ""deiodinase, iodothyronine, type III opposite strand"", ""DIO3 opposite strand/antisense RNA"""	C14orf134		14962667	Standard	NR_002770		Approved	NCRNA00041, DIO3-AS1	uc001yke.3		OTTHUMG00000171682		14.37:g.102024018G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000408206.1	37	NULL		14																																																																																			DIO3OS	-	-		0.587	DIO3OS-201	KNOWN	basic	miRNA	DIO3OS	HGNC	lincRNA		G	NR_002770		102024018	-1	no_errors	ENST00000554441	ensembl	human	known	70_37	rna	SNP	0.003	A
DMD	1756	genome.wustl.edu	37	X	32360321	32360321	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chrX:32360321C>T	ENST00000357033.4	-	41	6024	c.5818G>A	c.(5818-5820)Ggg>Agg	p.G1940R	DMD_ENST00000378677.2_Missense_Mutation_p.G1936R	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1940					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				ATTGCGGCCCCATCCTCAGAC	0.498																																																	0													104.0	72.0	83.0					X																	32360321		2202	4300	6502	SO:0001583	missense	1756			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.5818G>A	X.37:g.32360321C>T	ENSP00000354923:p.Gly1940Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ	p.G1940R	ENST00000357033.4	37	c.5818	CCDS14233.1	X	.	.	.	.	.	.	.	.	.	.	C	16.79	3.221010	0.58560	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.54675	0.56;0.56	5.76	5.76	0.90799	.	0.000000	0.37761	U	0.001960	T	0.62877	0.2464	L	0.27053	0.805	0.80722	D	1	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	T	0.62932	-0.6749	10	0.42905	T	0.14	.	18.8949	0.92419	0.0:1.0:0.0:0.0	.	1932;1940;1936;599;596	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6	.;DMD_HUMAN;.;.;.	R	1932;599;596;1936;1940;1940;1817	ENSP00000367948:G1936R;ENSP00000354923:G1940R	ENSP00000354923:G1940R	G	-	1	0	DMD	32270242	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.775000	0.75018	2.409000	0.81822	0.594000	0.82650	GGG	DMD	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin		0.498	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMD	HGNC	protein_coding	OTTHUMT00000056182.2	C	NM_004006		32360321	-1	no_errors	ENST00000357033	ensembl	human	known	70_37	missense	SNP	1.000	T
DMD	1756	genome.wustl.edu	37	X	32717261	32717261	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chrX:32717261G>A	ENST00000357033.4	-	8	1005	c.799C>T	c.(799-801)Cag>Tag	p.Q267*	DMD_ENST00000288447.4_Nonsense_Mutation_p.Q259*|DMD_ENST00000378677.2_Nonsense_Mutation_p.Q263*	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	267					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TGATGTAACTGAAAATGTTCT	0.373																																																	0													186.0	148.0	161.0					X																	32717261		2202	4300	6502	SO:0001587	stop_gained	1756			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.799C>T	X.37:g.32717261G>A	ENSP00000354923:p.Gln267*	Somatic		WXS	Illumina HiSeq	Phase_IV	E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Nonsense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ	p.Q267*	ENST00000357033.4	37	c.799	CCDS14233.1	X	.	.	.	.	.	.	.	.	.	.	g	37	6.352223	0.97498	.	.	ENSG00000198947	ENST00000534884;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280;ENST00000288447	.	.	.	5.58	3.76	0.43208	.	0.000000	0.35936	U	0.002900	.	.	.	.	.	.	0.21822	N	0.999526	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.2187	0.48842	0.0:0.3644:0.5062:0.1293	.	.	.	.	X	259;263;267;267;144;259	.	ENSP00000288447:Q259X	Q	-	1	0	DMD	32627182	1.000000	0.71417	0.844000	0.33320	0.920000	0.55202	3.421000	0.52742	0.492000	0.27815	0.513000	0.50165	CAG	DMD	-	pirsf_Dystrophin/utrophin		0.373	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMD	HGNC	protein_coding	OTTHUMT00000056182.2	G	NM_004006		32717261	-1	no_errors	ENST00000357033	ensembl	human	known	70_37	nonsense	SNP	0.103	A
DMPK	1760	genome.wustl.edu	37	19	46285499	46285499	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr19:46285499C>T	ENST00000291270.4	-	1	237	c.112G>A	c.(112-114)Gcc>Acc	p.A38T	DMPK_ENST00000600757.1_5'Flank|DMPK_ENST00000354227.5_Missense_Mutation_p.A38T|DMPK_ENST00000458663.2_Missense_Mutation_p.A38T|DMPK_ENST00000447742.2_Missense_Mutation_p.A38T|AC011530.4_ENST00000593999.1_Intron|DMPK_ENST00000343373.4_5'Flank	NM_004409.3	NP_004400.4	Q09013	DMPK_HUMAN	dystrophia myotonica-protein kinase	38					cellular calcium ion homeostasis (GO:0006874)|muscle cell apoptotic process (GO:0010657)|nuclear envelope organization (GO:0006998)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|regulation of excitatory postsynaptic membrane potential involved in skeletal muscle contraction (GO:0014853)|regulation of heart contraction (GO:0008016)|regulation of myotube differentiation (GO:0010830)|regulation of skeletal muscle contraction by calcium ion signaling (GO:0014722)|regulation of sodium ion transport (GO:0002028)|regulation of synapse structural plasticity (GO:0051823)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of mitochondrial outer membrane (GO:0031307)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|myosin phosphatase regulator activity (GO:0017020)|protein serine/threonine kinase activity (GO:0004674)			endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		AGTTCGGAGGCGCCCAGCTCC	0.697																																					Esophageal Squamous(35;307 869 9153 24033 28903)												0													17.0	20.0	19.0					19																	46285499		2203	4299	6502	SO:0001583	missense	1760			L19268	CCDS12674.1, CCDS46117.1, CCDS46118.1, CCDS46119.1, CCDS74400.1	19q13.3	2014-02-05					2.7.11.1		2933	protein-coding gene	gene with protein product	"""dystrophia myotonica 1"", ""DM protein kinase"", ""myotonin protein kinase A"", ""myotonic dystrophy associated protein kinase"", ""thymopoietin homolog"""	605377	"""dystrophia myotonica 1 (includes dystrophia myotonia protein kinase)"""	DM1, DM		1546325, 1546326	Standard	NM_001288765		Approved	DMK, DM1PK, MDPK, MT-PK	uc002pdf.1	Q09013		ENST00000291270.4:c.112G>A	19.37:g.46285499C>T	ENSP00000291270:p.Ala38Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	E5KR08|Q16205|Q6P5Z6	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_cat_dom	p.A38T	ENST00000291270.4	37	c.112	CCDS12674.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.17|11.17	1.559479|1.559479	0.27827|0.27827	.|.	.|.	ENSG00000104936|ENSG00000104936	ENST00000458663;ENST00000291270;ENST00000447742;ENST00000377750;ENST00000354227|ENST00000342805	T;T;T;T|.	0.66460|.	-0.21;-0.18;-0.2;-0.17|.	4.14|4.14	0.87|0.87	0.19102|0.19102	.|.	.|10.943000	.|0.00166	.|N	.|0.000010	T|T	0.18635|0.18635	0.0447|0.0447	N|N	0.03608|0.03608	-0.345|-0.345	0.23693|0.23693	N|N	0.99709|0.99709	B;P;P;P|B	0.44429|0.09022	0.03;0.835;0.835;0.528|0.002	B;B;B;B|B	0.25405|0.04013	0.016;0.06;0.06;0.012|0.001	T|T	0.17289|0.17289	-1.0374|-1.0374	9|9	0.22109|0.39692	T|T	0.4|0.17	.|.	5.454|5.454	0.16580|0.16580	0.0:0.5341:0.0:0.4659|0.0:0.5341:0.0:0.4659	.|.	38;38;38;38|44	Q09013-12;E5KR07;E5KR05;Q09013|G5E982	.;.;.;DMPK_HUMAN|.	T|H	38|44	ENSP00000401753:A38T;ENSP00000291270:A38T;ENSP00000413417:A38T;ENSP00000346168:A38T|.	ENSP00000291270:A38T|ENSP00000342201:R44H	A|R	-|-	1|2	0|0	DMPK|DMPK	50977339|50977339	0.006000|0.006000	0.16342|0.16342	0.644000|0.644000	0.29465|0.29465	0.943000|0.943000	0.58893|0.58893	-0.063000|-0.063000	0.11655|0.11655	0.470000|0.470000	0.27294|0.27294	0.462000|0.462000	0.41574|0.41574	GCC|CGC	DMPK	-	NULL		0.697	DMPK-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DMPK	HGNC	protein_coding	OTTHUMT00000460572.1	C	NM_004409		46285499	-1	no_errors	ENST00000291270	ensembl	human	known	70_37	missense	SNP	0.020	T
DNAH6	1768	genome.wustl.edu	37	2	85012777	85012777	+	Missense_Mutation	SNP	G	G	A	rs200079931		TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr2:85012777G>A	ENST00000237449.6	+	66	11005	c.10997G>A	c.(10996-10998)cGa>cAa	p.R3666Q	DNAH6_ENST00000389394.3_Missense_Mutation_p.R3666Q			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	3666	AAA 6. {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(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						AATATCAGACGAGCATTTACT	0.328													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20800	0.0		0.0	False		,,,				2504	0.0																0								G	GLN/ARG	2,1382		0,2,690	144.0	120.0	127.0		10997	5.6	1.0	2		127	1,3181		0,1,1590	yes	missense	DNAH6	NM_001370.1	43	0,3,2280	AA,AG,GG		0.0314,0.1445,0.0657	probably-damaging	3666/4159	85012777	3,4563	692	1591	2283	SO:0001583	missense	1768			U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"""Axonemal dyneins"""	2951	protein-coding gene	gene with protein product		603336	"""dynein, axonemal, heavy polypeptide 6"", ""dynein heavy chain-like 1"""	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.10997G>A	2.37:g.85012777G>A	ENSP00000237449:p.Arg3666Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.R3666Q	ENST00000237449.6	37	c.10997	CCDS46348.1	2	.	.	.	.	.	.	.	.	.	.	G	28.3	4.905805	0.92107	0.001445	3.14E-4	ENSG00000115423	ENST00000389394;ENST00000237449	T;T	0.09911	2.93;2.93	5.61	5.61	0.85477	Dynein heavy chain (1);	0.000000	0.64402	D	0.000014	T	0.30759	0.0775	M	0.73217	2.22	0.80722	D	1	D;D	0.64830	0.994;0.966	P;B	0.62491	0.903;0.411	T	0.00440	-1.1738	10	0.46703	T	0.11	.	17.1282	0.86720	0.0:0.0:1.0:0.0	.	3666;425	Q9C0G6;Q9C0G6-2	DYH6_HUMAN;.	Q	3666	ENSP00000374045:R3666Q;ENSP00000237449:R3666Q	ENSP00000237449:R3666Q	R	+	2	0	DNAH6	84866288	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.490000	0.73645	2.643000	0.89663	0.462000	0.41574	CGA	DNAH6	-	pfam_Dynein_heavy_dom		0.328	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH6	HGNC	protein_coding	OTTHUMT00000328537.2	G	NM_001370		85012777	+1	no_errors	ENST00000237449	ensembl	human	known	70_37	missense	SNP	1.000	A
DNASE1L1	1774	genome.wustl.edu	37	X	153631924	153631924	+	Silent	SNP	G	G	A	rs373072839		TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chrX:153631924G>A	ENST00000393638.1	-	5	637	c.351C>T	c.(349-351)aaC>aaT	p.N117N	DNASE1L1_ENST00000369809.1_Silent_p.N117N	NM_001009934.1	NP_001009934.1	P49184	DNSL1_HUMAN	deoxyribonuclease I-like 1	117					DNA metabolic process (GO:0006259)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)			lung(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CATCCTCATCGTTGTACACGT	0.547													G|||	1	0.000264901	0.0	0.0	3775	,	,		15122	0.0		0.0	False		,,,				2504	0.001																0									,,,	0,3835		0,0,1632,571	123.0	101.0	109.0		351,351,351,351	-8.5	0.0	X		109	1,6727		0,1,2427,1872	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	DNASE1L1	NM_001009932.1,NM_001009933.1,NM_001009934.1,NM_006730.2	,,,	0,1,4059,2443	AA,AG,GG,G		0.0149,0.0,0.0095	,,,	117/303,117/303,117/303,117/303	153631924	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	1774			L40817	CCDS14747.1	Xq28	2008-02-05			ENSG00000013563	ENSG00000013563			2957	protein-coding gene	gene with protein product	"""DNase X"""	300081		DNL1L		8541839, 8654957	Standard	XM_005277829		Approved	DNAS1L1, XIB, DNASEX	uc004fkw.1	P49184	OTTHUMG00000033188	ENST00000393638.1:c.351C>T	X.37:g.153631924G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DWW7|Q5HY41	Silent	SNP	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_DNase_I_euk,pirsf_DNase_I_euk,prints_DNase_I_euk	p.N117	ENST00000393638.1	37	c.351	CCDS14747.1	X																																																																																			DNASE1L1	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_DNase_I_euk,pirsf_DNase_I_euk		0.547	DNASE1L1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	DNASE1L1	HGNC	protein_coding	OTTHUMT00000080928.2	G			153631924	-1	no_errors	ENST00000014935	ensembl	human	known	70_37	silent	SNP	0.000	A
EFHB	151651	genome.wustl.edu	37	3	19926048	19926048	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr3:19926048G>A	ENST00000295824.9	-	11	2154	c.1993C>T	c.(1993-1995)Ctc>Ttc	p.L665F	EFHB_ENST00000344838.4_Missense_Mutation_p.L535F	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN	EF-hand domain family, member B	665							calcium ion binding (GO:0005509)			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						TTTATGAGGAGAGTTTGTTCA	0.368																																																	0													143.0	148.0	146.0					3																	19926048		2203	4300	6503	SO:0001583	missense	151651			AK122616	CCDS33715.2	3p24.3	2014-07-18			ENSG00000163576	ENSG00000163576		"""EF-hand domain containing"""	26330	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 21"""					12477932	Standard	NM_144715		Approved	FLJ25200, CFAP21	uc003cbl.4	Q8N7U6	OTTHUMG00000150505	ENST00000295824.9:c.1993C>T	3.37:g.19926048G>A	ENSP00000295824:p.Leu665Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	A6ND25|A8MPR3|Q6ZWK9|Q8IV58|Q96LQ6	Missense_Mutation	SNP	pfam_SPARC/Testican_Ca-bd-dom,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.L665F	ENST00000295824.9	37	c.1993	CCDS33715.2	3	.	.	.	.	.	.	.	.	.	.	G	9.711	1.156965	0.21454	.	.	ENSG00000163576	ENST00000295824;ENST00000344838	T;T	0.26067	1.76;1.84	5.92	4.01	0.46588	.	0.276252	0.29246	N	0.012705	T	0.17746	0.0426	L	0.36672	1.1	0.09310	N	1	B;B	0.17667	0.023;0.006	B;B	0.14023	0.01;0.005	T	0.14699	-1.0463	9	.	.	.	-7.0896	7.8095	0.29221	0.0857:0.162:0.7523:0.0	.	535;665	Q8N7U6-3;Q8N7U6	.;EFHB_HUMAN	F	665;535	ENSP00000295824:L665F;ENSP00000342263:L535F	.	L	-	1	0	EFHB	19901052	0.522000	0.26266	0.899000	0.35326	0.426000	0.31534	1.151000	0.31651	1.482000	0.48325	0.650000	0.86243	CTC	EFHB	-	NULL		0.368	EFHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFHB	HGNC	protein_coding	OTTHUMT00000318673.2	G	NM_144715		19926048	-1	no_errors	ENST00000295824	ensembl	human	known	70_37	missense	SNP	0.069	A
EFHC1	114327	genome.wustl.edu	37	6	52344532	52344532	+	Silent	SNP	G	G	A	rs377227885		TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr6:52344532G>A	ENST00000371068.5	+	9	1690	c.1587G>A	c.(1585-1587)gcG>gcA	p.A529A	EFHC1_ENST00000433625.2_Silent_p.A438A|EFHC1_ENST00000538167.1_Silent_p.A510A	NM_018100.3	NP_060570.2	Q5JVL4	EFHC1_HUMAN	EF-hand domain (C-terminal) containing 1	529						axoneme (GO:0005930)|neuronal cell body (GO:0043025)	calcium ion binding (GO:0005509)|protein C-terminus binding (GO:0008022)	p.A529A(1)		breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27	Lung NSC(77;0.109)					AAGCACTCGCGTCAATTCAGA	0.478																																																	1	Substitution - coding silent(1)	lung(1)						G	,	0,4406		0,0,2203	128.0	112.0	118.0		1530,1587	-6.0	0.0	6		118	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous,coding-synonymous	EFHC1	NM_001172420.1,NM_018100.3	,	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	,	510/622,529/641	52344532	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	114327			AK001328	CCDS4942.1, CCDS55021.1	6p12.3	2014-02-04			ENSG00000096093	ENSG00000096093		"""EF-hand domain containing"""	16406	protein-coding gene	gene with protein product	"""myoclonin-1"""	608815	"""epilepsy, juvenile myoclonic 1"""	EJM1, EJM		15258581	Standard	NM_018100		Approved	FLJ10466	uc003pap.4	Q5JVL4	OTTHUMG00000014848	ENST00000371068.5:c.1587G>A	6.37:g.52344532G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DMU3|F5GZD8|Q5XKM4|Q6E1U7|Q6E1U8|Q8WUL2|Q9NVW6	Silent	SNP	pfam_DUF1126,smart_Uncharacterised_DM10,pfscan_EF_HAND_2	p.A529	ENST00000371068.5	37	c.1587	CCDS4942.1	6																																																																																			EFHC1	-	NULL		0.478	EFHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFHC1	HGNC	protein_coding	OTTHUMT00000040905.2	G	NM_018100		52344532	+1	no_errors	ENST00000371068	ensembl	human	known	70_37	silent	SNP	0.000	A
MT-ND1	4535	genome.wustl.edu	37	M	1407	1407	+	5'Flank	SNP	T	T	C			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chrM:1407T>C	ENST00000361390.2	+	0	0				MT-TM_ENST00000387377.1_RNA|MT-RNR1_ENST00000389680.2_RNA|MT-TI_ENST00000387365.1_RNA|MT-RNR2_ENST00000387347.2_RNA|MT-TQ_ENST00000387372.1_RNA|MT-TF_ENST00000387314.1_RNA|MT-TV_ENST00000387342.1_RNA|MT-TL1_ENST00000386347.1_RNA			P03886	NU1M_HUMAN	mitochondrially encoded NADH dehydrogenase 1						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|endometrium(13)|kidney(17)|lung(2)|prostate(1)	34					Desflurane(DB01189)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CCTTATGAAACTTAAGGGTCG	0.488																																																	0																																										SO:0001631	upstream_gene_variant	0					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198888	ENSG00000198888	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7455	protein-coding gene	gene with protein product	"""complex I ND1 subunit"", ""NADH-ubiquinone oxidoreductase chain 1"""	516000	"""NADH dehydrogenase 1"""	MTND1			Standard			Approved	ND1, NAD1		P03886			M.37:g.1407T>C	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV	C0JKH6|Q37523	RNA	SNP	-	NULL	ENST00000361390.2	37	NULL		MT																																																																																			J01415.23	-	-		0.488	MT-ND1-201	KNOWN	basic|appris_principal	protein_coding	ENSG00000211459	Clone_based_ensembl_gene	protein_coding		T	YP_003024026		1407	+1	no_errors	ENST00000389680	ensembl	human	known	70_37	rna	SNP	NULL	C
AL034449.1	0	genome.wustl.edu	37	21	17065603	17065603	+	RNA	SNP	C	C	G			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr21:17065603C>G	ENST00000408570.1	+	0	77																											tacttttggaccaacctaaTA	0.383																																																	0																																												0																															21.37:g.17065603C>G		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000408570.1	37	NULL		21																																																																																			AL034449.1	-	-		0.383	AL034449.1-201	NOVEL	basic	miRNA	ENSG00000221497	Clone_based_ensembl_gene	miRNA		C			17065603	+1	no_errors	ENST00000408570	ensembl	human	novel	70_37	rna	SNP	0.016	G
LOC101927648	101927648	genome.wustl.edu	37	1	143403499	143403499	+	lincRNA	SNP	A	A	C	rs201058279		TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr1:143403499A>C	ENST00000423249.1	-	0	59																											AACATGTGGCAGAAGGGAAGA	0.488																																																	0																																												0																															1.37:g.143403499A>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000423249.1	37	NULL		1																																																																																			BX004987.5	-	-		0.488	RP11-435B5.4-002	KNOWN	not_best_in_genome_evidence|basic	lincRNA	ENSG00000238261	Clone_based_vega_gene	lincRNA	OTTHUMT00000037552.1	A			143403499	+1	no_errors	ENST00000433980	ensembl	human	known	70_37	rna	SNP	1.000	C
LOC646522	646522	genome.wustl.edu	37	11	133680183	133680183	+	lincRNA	SNP	G	G	A			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr11:133680183G>A	ENST00000526254.1	-	0	28																											TTCTTCCCCCGACACTTGCTG	0.522																																																	0													18.0	20.0	19.0					11																	133680183		692	1591	2283			0																															11.37:g.133680183G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000526254.1	37	NULL		11																																																																																			RP11-448P19.1	-	-		0.522	RP11-448P19.1-001	KNOWN	basic	lincRNA	ENSG00000255258	Clone_based_vega_gene	lincRNA	OTTHUMT00000393279.1	G			133680183	-1	no_errors	ENST00000530621	ensembl	human	known	70_37	rna	SNP	0.000	A
ERBB3	2065	genome.wustl.edu	37	12	56478854	56478854	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr12:56478854G>A	ENST00000267101.3	+	3	750	c.310G>A	c.(310-312)Gtg>Atg	p.V104M	ERBB3_ENST00000415288.2_Missense_Mutation_p.V45M|ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000411731.2_Missense_Mutation_p.V104M	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	104			V -> M (in an ovarian mucinous carcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)	p.V104M(7)|p.V104L(2)		central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CAACCTCCGCGTGGTGCGAGG	0.517																																																	9	Substitution - Missense(9)	large_intestine(5)|endometrium(2)|ovary(1)|NS(1)											186.0	159.0	168.0					12																	56478854		2203	4300	6503	SO:0001583	missense	2065			M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"""lethal congenital contracture syndrome 2"""	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.310G>A	12.37:g.56478854G>A	ENSP00000267101:p.Val104Met	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Furin-like_Cys-rich_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.V104M	ENST00000267101.3	37	c.310	CCDS31833.1	12	.	.	.	.	.	.	.	.	.	.	G	16.37	3.103691	0.56291	.	.	ENSG00000065361	ENST00000549282;ENST00000549061;ENST00000267101;ENST00000394099;ENST00000411731;ENST00000549672;ENST00000415288	T;T;T;T;T;T	0.81330	-1.48;-1.48;-1.48;-1.48;-1.48;-1.48	5.82	4.93	0.64822	EGF receptor, L domain (1);	0.096412	0.43416	D	0.000573	D	0.87438	0.6177	M	0.82823	2.61	0.80722	D	1	D;D	0.76494	0.998;0.999	P;P	0.59221	0.698;0.854	D	0.88227	0.2901	10	0.59425	D	0.04	.	10.6531	0.45659	0.1547:0.0:0.8453:0.0	.	104;104	P21860;P21860-2	ERBB3_HUMAN;.	M	104;45;104;104;104;45;45	ENSP00000448636:V104M;ENSP00000449138:V45M;ENSP00000267101:V104M;ENSP00000415753:V104M;ENSP00000449713:V45M;ENSP00000408340:V45M	ENSP00000267101:V104M	V	+	1	0	ERBB3	54765121	1.000000	0.71417	0.892000	0.35008	0.052000	0.14988	4.300000	0.59079	1.450000	0.47717	0.655000	0.94253	GTG	ERBB3	-	pfam_EGF_rcpt_L,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt		0.517	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERBB3	HGNC	protein_coding	OTTHUMT00000407619.3	G			56478854	+1	no_errors	ENST00000267101	ensembl	human	known	70_37	missense	SNP	0.994	A
FGFR2	2263	genome.wustl.edu	37	10	123274794	123274794	+	Missense_Mutation	SNP	T	T	C	rs121913478		TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr10:123274794T>C	ENST00000358487.5	-	9	1396	c.1124A>G	c.(1123-1125)tAc>tGc	p.Y375C	FGFR2_ENST00000457416.2_Missense_Mutation_p.Y376C|FGFR2_ENST00000478859.1_Missense_Mutation_p.Y147C|FGFR2_ENST00000346997.2_Missense_Mutation_p.Y375C|FGFR2_ENST00000369056.1_Missense_Mutation_p.Y376C|FGFR2_ENST00000369061.4_Missense_Mutation_p.Y263C|FGFR2_ENST00000369059.1_Missense_Mutation_p.Y261C|FGFR2_ENST00000351936.6_Missense_Mutation_p.Y375C|FGFR2_ENST00000360144.3_Missense_Mutation_p.Y287C|FGFR2_ENST00000356226.4_Missense_Mutation_p.Y260C|FGFR2_ENST00000357555.5_Missense_Mutation_p.Y286C|FGFR2_ENST00000490349.1_5'Flank|FGFR2_ENST00000369060.4_Intron	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	375			Y -> C (in PS and BSTVS). {ECO:0000269|PubMed:11781872, ECO:0000269|PubMed:12000365, ECO:0000269|PubMed:8696350}.		angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|bone development (GO:0060348)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of a nerve (GO:0048755)|bud elongation involved in lung branching (GO:0060449)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|coronal suture morphogenesis (GO:0060365)|digestive tract development (GO:0048565)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic organ development (GO:0048568)|embryonic organ morphogenesis (GO:0048562)|embryonic pattern specification (GO:0009880)|endodermal digestive tract morphogenesis (GO:0061031)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis morphogenesis (GO:0048730)|epithelial cell differentiation (GO:0030855)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in hemopoiesis (GO:0035603)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptotic process in bone marrow (GO:0035602)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow (GO:0035604)|gland morphogenesis (GO:0022612)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lacrimal gland development (GO:0032808)|lateral sprouting from an epithelium (GO:0060601)|lens fiber cell development (GO:0070307)|limb bud formation (GO:0060174)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung lobe morphogenesis (GO:0060463)|lung-associated mesenchyme development (GO:0060484)|mammary gland bud formation (GO:0060615)|membranous septum morphogenesis (GO:0003149)|mesenchymal cell differentiation (GO:0048762)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesodermal cell differentiation (GO:0048333)|midbrain development (GO:0030901)|morphogenesis of embryonic epithelium (GO:0016331)|multicellular organism growth (GO:0035264)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis (GO:0042476)|orbitofrontal cortex development (GO:0021769)|organ growth (GO:0035265)|organ morphogenesis (GO:0009887)|otic vesicle formation (GO:0030916)|outflow tract septum morphogenesis (GO:0003148)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|post-embryonic development (GO:0009791)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|prostate gland morphogenesis (GO:0060512)|protein autophosphorylation (GO:0046777)|pyramidal neuron development (GO:0021860)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of morphogenesis of a branching structure (GO:0060688)|regulation of multicellular organism growth (GO:0040014)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoblast proliferation (GO:0033688)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of smoothened signaling pathway (GO:0008589)|reproductive structure development (GO:0048608)|skeletal system morphogenesis (GO:0048705)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|synaptic vesicle transport (GO:0048489)|ureteric bud development (GO:0001657)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular zone neuroblast division (GO:0021847)	cell cortex (GO:0005938)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)	p.Y375C(5)|p.Y376C(1)|p.Y286C(1)		breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Thalidomide(DB01041)	TATCTCCAGGTAGTCTGGGGA	0.493		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome																															Dom	yes		10	10q26	2263	fibroblast growth factor receptor 2	yes	E	7	Substitution - Missense(7)	endometrium(7)	GRCh37	CM960653	FGFR2	M	rs121913478						108.0	114.0	112.0					10																	123274794		2203	4300	6503	SO:0001583	missense	2263	Familial Cancer Database	Acrocephalosyndactyly type III;Acrocephalosyndactyly type I and II, ACS1. ACS2, incl Apert-Crouzon s.	AK026508	CCDS7620.2, CCDS31298.1, CCDS44485.1, CCDS44486.1, CCDS44487.1, CCDS44488.1, CCDS44489.1, CCDS53584.1, CCDS73210.1	10q25.3-q26	2013-01-11	2008-08-01		ENSG00000066468	ENSG00000066468		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3689	protein-coding gene	gene with protein product	"""Crouzon syndrome"", ""Pfeiffer syndrome"""	176943	"""bacteria-expressed kinase"", ""keratinocyte growth factor receptor"", ""craniofacial dysostosis 1"", ""Jackson-Weiss syndrome"""	KGFR, BEK, CFD1, JWS			Standard	NM_022970		Approved	CEK3, TK14, TK25, ECT1, K-SAM, CD332	uc021pzy.1	P21802	OTTHUMG00000019175	ENST00000358487.5:c.1124A>G	10.37:g.123274794T>C	ENSP00000351276:p.Tyr375Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DFC2|E7EVR6|E9PCR0|P18443|Q01742|Q12922|Q14300|Q14301|Q14302|Q14303|Q14304|Q14305|Q14672|Q14718|Q14719|Q1KHY5|Q86YI4|Q8IXC7|Q96KL9|Q96KM0|Q96KM1|Q96KM2|Q9NZU2|Q9NZU3|Q9UD01|Q9UD02|Q9UIH3|Q9UIH4|Q9UIH5|Q9UIH6|Q9UIH7|Q9UIH8|Q9UM87|Q9UMC6|Q9UNS7|Q9UQH7|Q9UQH8|Q9UQH9|Q9UQI0	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_fibroblast_GF_rcpt,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom	p.Y376C	ENST00000358487.5	37	c.1127	CCDS31298.1	10	.	.	.	.	.	.	.	.	.	.	T	25.0	4.589090	0.86851	.	.	ENSG00000066468	ENST00000357555;ENST00000369062;ENST00000369061;ENST00000358487;ENST00000356226;ENST00000369059;ENST00000346997;ENST00000457416;ENST00000351936;ENST00000360144;ENST00000369056;ENST00000369058;ENST00000336553	D;D;D;D;D;D;D;D;D;D;D;D	0.88201	-2.35;-2.35;-2.35;-2.35;-2.35;-2.35;-2.35;-2.35;-2.35;-2.35;-2.35;-2.35	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	D	0.94594	0.8258	M	0.84326	2.69	0.80722	A	1	D;D;D;D;D;P;D	0.76494	0.993;0.996;0.999;0.998;0.998;0.933;0.999	P;D;D;D;D;P;D	0.70016	0.662;0.927;0.917;0.944;0.927;0.818;0.967	D	0.95149	0.8271	9	0.72032	D	0.01	.	16.2041	0.82108	0.0:0.0:0.0:1.0	.	394;376;286;260;375;287;376	D3DRD5;P21802-18;P21802-21;P21802-20;P21802;P21802-22;P21802-17	.;.;.;.;FGFR2_HUMAN;.;.	C	286;378;263;375;260;261;375;376;375;287;376;376;286	ENSP00000350166:Y286C;ENSP00000358057:Y263C;ENSP00000351276:Y375C;ENSP00000348559:Y260C;ENSP00000358055:Y261C;ENSP00000263451:Y375C;ENSP00000410294:Y376C;ENSP00000309878:Y375C;ENSP00000353262:Y287C;ENSP00000358052:Y376C;ENSP00000358054:Y376C;ENSP00000337665:Y286C	ENSP00000337665:Y286C	Y	-	2	0	FGFR2	123264784	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.964000	0.87933	2.219000	0.72066	0.533000	0.62120	TAC	FGFR2	-	pirsf_Tyr_kinase_fibroblast_GF_rcpt		0.493	FGFR2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	FGFR2	HGNC	protein_coding	OTTHUMT00000050715.1	T	NM_022976, NM_000141		123274794	-1	no_errors	ENST00000457416	ensembl	human	known	70_37	missense	SNP	1.000	C
FRMD6	122786	genome.wustl.edu	37	14	52171610	52171610	+	Missense_Mutation	SNP	A	A	G			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr14:52171610A>G	ENST00000344768.5	+	6	711	c.515A>G	c.(514-516)cAc>cGc	p.H172R	FRMD6_ENST00000356218.4_Missense_Mutation_p.H164R|FRMD6_ENST00000554167.1_Missense_Mutation_p.H95R|FRMD6_ENST00000395718.2_Missense_Mutation_p.H164R			Q96NE9	FRMD6_HUMAN	FERM domain containing 6	172	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				apical constriction (GO:0003383)|cellular protein localization (GO:0034613)|regulation of actin filament-based process (GO:0032970)	apical junction complex (GO:0043296)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					AGGAATAAGCACTATGGAAAA	0.468																																																	0													64.0	65.0	65.0					14																	52171610		2203	4300	6503	SO:0001583	missense	122786			BI465118	CCDS9704.1, CCDS58318.1, CCDS58319.1	14q22.1	2011-06-22	2005-07-20	2005-07-20	ENSG00000139926	ENSG00000139926			19839	protein-coding gene	gene with protein product	"""expanded homolog"""	614555	"""chromosome 14 open reading frame 31"""	C14orf31			Standard	NM_152330		Approved	MGC17921, willin, EX1	uc001wzd.3	Q96NE9	OTTHUMG00000140294	ENST00000344768.5:c.515A>G	14.37:g.52171610A>G	ENSP00000343899:p.His172Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DSB9|Q5HYF2|Q8N2X1|Q8WUH7	Missense_Mutation	SNP	pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain	p.H172R	ENST00000344768.5	37	c.515	CCDS58318.1	14	.	.	.	.	.	.	.	.	.	.	A	16.28	3.079748	0.55753	.	.	ENSG00000139926	ENST00000356218;ENST00000395718;ENST00000344768;ENST00000555936;ENST00000554167;ENST00000557405	T;T;T;T;T;T	0.34275	1.37;1.37;1.37;1.37;1.37;1.37	5.54	5.54	0.83059	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.043207	0.85682	D	0.000000	T	0.49490	0.1560	M	0.86343	2.81	0.80722	D	1	B;B;B	0.17038	0.01;0.013;0.02	B;B;B	0.25987	0.017;0.03;0.065	T	0.54029	-0.8354	10	0.87932	D	0	.	15.6635	0.77206	1.0:0.0:0.0:0.0	.	95;172;164	G3V4T7;Q96NE9;Q96NE9-2	.;FRMD6_HUMAN;.	R	164;164;172;103;95;62	ENSP00000348550:H164R;ENSP00000379068:H164R;ENSP00000343899:H172R;ENSP00000451453:H103R;ENSP00000451977:H95R;ENSP00000450667:H62R	ENSP00000343899:H172R	H	+	2	0	FRMD6	51241360	1.000000	0.71417	1.000000	0.80357	0.760000	0.43138	9.297000	0.96120	2.101000	0.63845	0.491000	0.48974	CAC	FRMD6	-	pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain		0.468	FRMD6-002	KNOWN	basic|CCDS	protein_coding	FRMD6	HGNC	protein_coding	OTTHUMT00000276881.1	A	NM_152330		52171610	+1	no_errors	ENST00000344768	ensembl	human	known	70_37	missense	SNP	1.000	G
FOXN3	1112	genome.wustl.edu	37	14	89647088	89647088	+	Missense_Mutation	SNP	G	G	A	rs142179906		TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr14:89647088G>A	ENST00000345097.4	-	6	990	c.874C>T	c.(874-876)Cgg>Tgg	p.R292W	FOXN3_ENST00000555353.1_Missense_Mutation_p.R270W|FOXN3_ENST00000557258.1_Missense_Mutation_p.R270W|FOXN3_ENST00000261302.5_Missense_Mutation_p.R292W	NM_001085471.1	NP_001078940.1	O00409	FOXN3_HUMAN	forkhead box N3	292					mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GGCAGCGGCCGCACGCCAGGA	0.607																																																	0													26.0	25.0	25.0					14																	89647088		2203	4300	6503	SO:0001583	missense	1112				CCDS32138.1, CCDS41977.1	14q32.11	2012-04-17	2007-05-02	2007-05-02	ENSG00000053254	ENSG00000053254		"""Forkhead boxes"""	1928	protein-coding gene	gene with protein product		602628	"""chromosome 14 open reading frame 116"", ""checkpoint suppressor 1"""	C14orf116, CHES1		9154802	Standard	NM_005197		Approved		uc001xxo.4	O00409	OTTHUMG00000170898	ENST00000345097.4:c.874C>T	14.37:g.89647088G>A	ENSP00000343288:p.Arg292Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	Q96II7|Q9UIE7	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.R292W	ENST00000345097.4	37	c.874	CCDS41977.1	14	.	.	.	.	.	.	.	.	.	.	G	12.43	1.935690	0.34189	.	.	ENSG00000053254	ENST00000557572;ENST00000345097;ENST00000261302;ENST00000557258;ENST00000555353	D;D;D;D	0.95137	-3.62;-3.62;-3.45;-3.45	5.56	4.59	0.56863	.	0.143577	0.46145	D	0.000303	D	0.90403	0.6996	L	0.29908	0.895	0.58432	D	0.999999	B;B	0.20052	0.041;0.009	B;B	0.14578	0.011;0.003	D	0.87781	0.2612	10	0.66056	D	0.02	.	15.4073	0.74890	0.0:0.0:0.8171:0.1829	.	292;270	O00409;O00409-2	FOXN3_HUMAN;.	W	1;292;292;270;270	ENSP00000343288:R292W;ENSP00000261302:R292W;ENSP00000452005:R270W;ENSP00000452227:R270W	ENSP00000261302:R292W	R	-	1	2	FOXN3	88716841	1.000000	0.71417	1.000000	0.80357	0.830000	0.47004	2.457000	0.45005	2.609000	0.88269	0.561000	0.74099	CGG	FOXN3	-	NULL		0.607	FOXN3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXN3	HGNC	protein_coding	OTTHUMT00000410902.2	G	NM_005197		89647088	-1	no_errors	ENST00000261302	ensembl	human	known	70_37	missense	SNP	0.998	A
GGNBP1	449520	genome.wustl.edu	37	6	33554459	33554459	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr6:33554459C>T	ENST00000374458.1	+	5	740	c.110C>T	c.(109-111)tCg>tTg	p.S37L	LINC00336_ENST00000477984.1_RNA			Q5YKI7	GGNB1_HUMAN	gametogenetin binding protein 1 (pseudogene)	37	Interaction with GGN. {ECO:0000250}.				cell differentiation (GO:0030154)|mitochondrial fission (GO:0000266)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)											TTCCTGGAGTCGGAGTTGAAG	0.602																																																	0																																										SO:0001583	missense	449520					6p21	2012-04-19	2012-04-19		ENSG00000204188	ENSG00000204188			19427	pseudogene	pseudogene		609495	"""gametogenetin binding protein 1"""			15642376	Standard	NR_028361		Approved		uc021ywq.1	Q5YKI7		ENST00000374458.1:c.110C>T	6.37:g.33554459C>T	ENSP00000363582:p.Ser37Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5YKI8	Missense_Mutation	SNP	NULL	p.S37L	ENST00000374458.1	37	c.110		6	.	.	.	.	.	.	.	.	.	.	C	11.63	1.696919	0.30142	.	.	ENSG00000204188	ENST00000374458	.	.	.	4.23	1.25	0.21368	.	0.363968	0.20275	N	0.095567	T	0.20373	0.0490	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.11372	-1.0590	6	0.59425	D	0.04	-13.3789	5.1215	0.14862	0.3587:0.5401:0.0:0.1012	.	.	.	.	L	37	.	ENSP00000363582:S37L	S	+	2	0	GGNBP1	33662437	0.114000	0.22134	0.180000	0.23079	0.271000	0.26615	0.178000	0.16820	0.435000	0.26365	-0.232000	0.12228	TCG	GGNBP1	-	NULL		0.602	GGNBP1-201	KNOWN	basic|appris_principal	protein_coding	GGNBP1	HGNC	protein_coding		C			33554459	+1	no_errors	ENST00000374458	ensembl	human	known	70_37	missense	SNP	0.048	T
GOLGA8M	653720	genome.wustl.edu	37	15	28950285	28950285	+	Missense_Mutation	SNP	G	G	T			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr15:28950285G>T	ENST00000340249.3	-	12	1518	c.977C>A	c.(976-978)tCc>tAc	p.S326Y	RN7SL719P_ENST00000487967.2_RNA|AC055876.2_ENST00000459082.1_RNA|GOLGA8M_ENST00000563027.1_Intron					golgin A8 family, member M																		GGATGGGGTGGAGGTTTCCGA	0.602																																																	0																																										SO:0001583	missense	653720				CCDS61572.1	15q13.1	2014-03-21			ENSG00000188626	ENSG00000188626			44404	protein-coding gene	gene with protein product							Standard	NM_001282468		Approved			H3BSY2	OTTHUMG00000176338	ENST00000340249.3:c.977C>A	15.37:g.28950285G>T	ENSP00000344295:p.Ser326Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.S326Y	ENST00000340249.3	37	c.977		15	.	.	.	.	.	.	.	.	.	.	.	8.685	0.905992	0.17760	.	.	ENSG00000188626	ENST00000340249	T	0.38560	1.13	0.798	-1.6	0.08426	.	.	.	.	.	T	0.33498	0.0865	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.34650	-0.9820	6	0.62326	D	0.03	.	2.6928	0.05125	0.0:0.3038:0.3918:0.3043	.	.	.	.	Y	326	ENSP00000344295:S326Y	ENSP00000344295:S326Y	S	-	2	0	AC055876.1	26749326	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	0.065000	0.14466	-1.018000	0.03363	0.184000	0.17185	TCC	GOLGA8M	-	NULL		0.602	GOLGA8M-201	KNOWN	basic|appris_candidate	protein_coding	GOLGA8M	HGNC	protein_coding		G			28950285	-1	no_errors	ENST00000340249	ensembl	human	known	70_37	missense	SNP	0.002	T
HELZ2	85441	genome.wustl.edu	37	20	62202785	62202785	+	Intron	SNP	A	A	G	rs112398509|rs71335511		TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr20:62202785A>G	ENST00000467148.1	-	2	348				HELZ2_ENST00000479540.1_5'UTR	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator						cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										GCTCCTGGGAACCTCTGGCTC	0.687																																																	0																																										SO:0001627	intron_variant	85441			AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"""peroxisomal proliferator activated receptor A interacting complex 285"", ""PPARG-DBD-interacting protein 1"""	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.279-564T>C	20.37:g.62202785A>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	RNA	SNP	-	NULL	ENST00000467148.1	37	NULL	CCDS33508.1	20																																																																																			HELZ2	-	-		0.687	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	HELZ2	HGNC	protein_coding	OTTHUMT00000354127.1	A	NM_001037335		62202785	-1	no_errors	ENST00000479540	ensembl	human	known	70_37	rna	SNP	0.741	G
HOXC13	3229	genome.wustl.edu	37	12	54333151	54333151	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr12:54333151C>T	ENST00000243056.3	+	1	617	c.461C>T	c.(460-462)cCg>cTg	p.P154L	HOXC-AS5_ENST00000512916.2_RNA	NM_017410.2	NP_059106.2	P31276	HXC13_HUMAN	homeobox C13	154					anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|hair follicle development (GO:0001942)|nail development (GO:0035878)|tongue morphogenesis (GO:0043587)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			breast(1)|large_intestine(1)|skin(1)	3						GATAAATACCCGGAGCCGTCG	0.667			T	NUP98	AML																																			Dom	yes		12	12q13.3	3229	homeo box C13		L	0													14.0	16.0	15.0					12																	54333151		2195	4290	6485	SO:0001583	missense	3229				CCDS8865.1	12q13.13	2011-06-20	2005-12-22		ENSG00000123364	ENSG00000123364		"""Homeoboxes / ANTP class : HOXL subclass"""	5125	protein-coding gene	gene with protein product		142976	"""homeo box C13"""	HOX3, HOX3G		1973146, 1358459	Standard	NM_017410		Approved		uc001sei.3	P31276	OTTHUMG00000160008	ENST00000243056.3:c.461C>T	12.37:g.54333151C>T	ENSP00000243056:p.Pro154Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5BL02|Q96J32|Q9NR24|Q9NYD5	Missense_Mutation	SNP	pfam_Homeodomain,pfam_HoxA13_N,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.P154L	ENST00000243056.3	37	c.461	CCDS8865.1	12	.	.	.	.	.	.	.	.	.	.	C	14.02	2.410895	0.42817	.	.	ENSG00000123364	ENST00000243056	T	0.37752	1.18	2.69	1.75	0.24633	.	0.144833	0.46758	D	0.000264	T	0.24275	0.0588	L	0.27053	0.805	0.50632	D	0.99988	B	0.14805	0.011	B	0.17722	0.019	T	0.07635	-1.0762	10	0.49607	T	0.09	.	10.189	0.43015	0.2015:0.7984:0.0:0.0	.	154	P31276	HXC13_HUMAN	L	154	ENSP00000243056:P154L	ENSP00000243056:P154L	P	+	2	0	HOXC13	52619418	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	2.589000	0.46145	0.677000	0.31305	0.313000	0.20887	CCG	HOXC13	-	pfam_HoxA13_N		0.667	HOXC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXC13	HGNC	protein_coding	OTTHUMT00000358865.2	C			54333151	+1	no_errors	ENST00000243056	ensembl	human	known	70_37	missense	SNP	1.000	T
HRNR	388697	genome.wustl.edu	37	1	152188861	152188861	+	Silent	SNP	C	C	T	rs201735593		TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr1:152188861C>T	ENST00000368801.2	-	3	5319	c.5244G>A	c.(5242-5244)tcG>tcA	p.S1748S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1748					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AAGAGTGACCCGAGCGAGACT	0.587																																																	0													1.0	1.0	1.0					1																	152188861		382	899	1281	SO:0001819	synonymous_variant	388697			AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.5244G>A	1.37:g.152188861C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5DT20|Q5U1F4	Silent	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2	p.S1748	ENST00000368801.2	37	c.5244	CCDS30859.1	1																																																																																			HRNR	-	NULL		0.587	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRNR	HGNC	protein_coding	OTTHUMT00000034016.1	C	XM_373868		152188861	-1	no_errors	ENST00000368801	ensembl	human	known	70_37	silent	SNP	0.000	T
HTR1F	3355	genome.wustl.edu	37	3	88040000	88040000	+	Missense_Mutation	SNP	C	C	A			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr3:88040000C>A	ENST00000319595.4	+	1	155	c.101C>A	c.(100-102)gCa>gAa	p.A34E		NM_000866.3	NP_000857.1	P30939	5HT1F_HUMAN	5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled	34					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Ketamine(DB01221)|Methysergide(DB00247)|Mianserin(DB06148)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	TCTGGGCTGGCACTGATGACA	0.433																																																	0													149.0	145.0	146.0					3																	88040000		2203	4300	6503	SO:0001583	missense	3355			L05597	CCDS2920.1	3p12	2012-08-08	2012-02-03		ENSG00000179097	ENSG00000179097		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5292	protein-coding gene	gene with protein product		182134	"""5-hydroxytryptamine (serotonin) receptor 1F"""			8384716, 8380639	Standard	NM_000866		Approved	HTR1EL, 5-HT1F	uc003dqr.2	P30939	OTTHUMG00000159008	ENST00000319595.4:c.101C>A	3.37:g.88040000C>A	ENSP00000322924:p.Ala34Glu	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT1F_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt	p.A34E	ENST00000319595.4	37	c.101	CCDS2920.1	3	.	.	.	.	.	.	.	.	.	.	C	19.47	3.833040	0.71258	.	.	ENSG00000179097	ENST00000319595	T	0.38560	1.13	5.5	4.62	0.57501	.	0.054004	0.64402	D	0.000001	T	0.36496	0.0969	N	0.08118	0	0.45076	D	0.998094	D	0.59767	0.986	P	0.55455	0.776	T	0.43410	-0.9393	10	0.87932	D	0	.	11.9433	0.52913	0.0:0.9157:0.0:0.0843	.	34	P30939	5HT1F_HUMAN	E	34	ENSP00000322924:A34E	ENSP00000322924:A34E	A	+	2	0	HTR1F	88122690	1.000000	0.71417	0.668000	0.29813	0.981000	0.71138	7.776000	0.85560	1.340000	0.45581	0.585000	0.79938	GCA	HTR1F	-	pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_GPCR_Rhodpsn		0.433	HTR1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR1F	HGNC	protein_coding	OTTHUMT00000352890.1	C	NM_000866		88040000	+1	no_errors	ENST00000319595	ensembl	human	known	70_37	missense	SNP	0.998	A
IGFN1	91156	genome.wustl.edu	37	1	201176060	201176060	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr1:201176060G>A	ENST00000335211.4	+	12	2169	c.2039G>A	c.(2038-2040)gGa>gAa	p.G680E	IGFN1_ENST00000451870.2_Intron|IGFN1_ENST00000295591.8_5'UTR	NM_001164586.1	NP_001158058.1	Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1	0	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.					nucleus (GO:0005634)|Z disc (GO:0030018)				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GAGCTTACTGGAGGAAGAGGT	0.612																																																	0													60.0	65.0	64.0					1																	201176060		692	1591	2283	SO:0001583	missense	91156			AY245430	CCDS53455.1	1q32.1	2013-02-11			ENSG00000163395	ENSG00000163395		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	24607	protein-coding gene	gene with protein product							Standard	NM_001164586		Approved	DKFZp434B1231, EEF1A2BP1	uc001gwc.3	Q86VF2	OTTHUMG00000035728	ENST00000335211.4:c.2039G>A	1.37:g.201176060G>A	ENSP00000334714:p.Gly680Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	F8WAI1|Q9NT72	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.G680E	ENST00000335211.4	37	c.2039	CCDS53455.1	1	.	.	.	.	.	.	.	.	.	.	G	16.40	3.112474	0.56398	.	.	ENSG00000163395	ENST00000335211	T	0.57107	0.42	4.14	3.19	0.36642	.	.	.	.	.	T	0.31167	0.0788	N	0.08118	0	0.25632	N	0.9863	.	.	.	.	.	.	T	0.19877	-1.0292	6	.	.	.	.	9.4112	0.38494	0.0:0.218:0.782:0.0	.	.	.	.	E	680	ENSP00000334714:G680E	.	G	+	2	0	IGFN1	199442683	0.009000	0.17119	0.069000	0.20011	0.641000	0.38312	1.073000	0.30691	0.899000	0.36444	0.655000	0.94253	GGA	IGFN1	-	NULL		0.612	IGFN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	IGFN1	HGNC	protein_coding		G	NM_178275		201176060	+1	no_errors	ENST00000335211	ensembl	human	known	70_37	missense	SNP	0.032	A
INTS1	26173	genome.wustl.edu	37	7	1510583	1510583	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr7:1510583G>A	ENST00000404767.3	-	47	6441	c.6356C>T	c.(6355-6357)gCc>gTc	p.A2119V	INTS1_ENST00000389470.4_Missense_Mutation_p.A2323V	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	2119					inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		CAGGAAAGCGGCTGCAATGCT	0.637																																																	0													42.0	48.0	46.0					7																	1510583		2064	4171	6235	SO:0001583	missense	26173			AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.6356C>T	7.37:g.1510583G>A	ENSP00000385722:p.Ala2119Val	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Missense_Mutation	SNP	pfam_DUF3677,superfamily_ARM-type_fold	p.A2323V	ENST00000404767.3	37	c.6968	CCDS47526.1	7	.	.	.	.	.	.	.	.	.	.	G	17.78	3.472793	0.63737	.	.	ENSG00000164880	ENST00000404767;ENST00000389470	T;T	0.66638	-0.22;-0.22	5.59	5.59	0.84812	.	0.049222	0.85682	D	0.000000	T	0.67942	0.2947	M	0.62723	1.935	0.51482	D	0.999925	B	0.33022	0.394	B	0.33454	0.164	T	0.69566	-0.5111	10	0.62326	D	0.03	.	19.5768	0.95447	0.0:0.0:1.0:0.0	.	2119	Q8N201	INT1_HUMAN	V	2119;2323	ENSP00000385722:A2119V;ENSP00000374121:A2323V	ENSP00000374121:A2323V	A	-	2	0	INTS1	1477109	1.000000	0.71417	0.975000	0.42487	0.064000	0.16182	7.833000	0.86765	2.635000	0.89317	0.462000	0.41574	GCC	INTS1	-	superfamily_ARM-type_fold		0.637	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS1	HGNC	protein_coding	OTTHUMT00000323683.1	G			1510583	-1	no_errors	ENST00000389470	ensembl	human	known	70_37	missense	SNP	0.998	A
IPO7	10527	genome.wustl.edu	37	11	9457893	9457893	+	Missense_Mutation	SNP	A	A	G			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr11:9457893A>G	ENST00000379719.3	+	20	2390	c.2248A>G	c.(2248-2250)Aaa>Gaa	p.K750E	CTD-2371O3.2_ENST00000531111.1_RNA	NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	750					innate immune response (GO:0045087)|protein import into nucleus (GO:0006606)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)|small GTPase regulator activity (GO:0005083)|transporter activity (GO:0005215)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		TCTGCAGTGCAAAGGGCGTGG	0.403																																																	0													121.0	99.0	106.0					11																	9457893		2201	4294	6495	SO:0001583	missense	10527			AF098799	CCDS31425.1	11p15.3	2010-12-02	2003-03-11	2003-03-14	ENSG00000205339	ENSG00000205339		"""Importins"""	9852	protein-coding gene	gene with protein product		605586	"""RAN binding protein 7"""	RANBP7		9214382	Standard	NM_006391		Approved	Imp7	uc001mho.3	O95373	OTTHUMG00000165753	ENST00000379719.3:c.2248A>G	11.37:g.9457893A>G	ENSP00000369042:p.Lys750Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NNM5|B2R786|Q1RMF7|Q9H177|Q9NTE3	Missense_Mutation	SNP	pfam_Importin-beta_N,pfam_Exportin/Importin_Cse1-like,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.K750E	ENST00000379719.3	37	c.2248	CCDS31425.1	11	.	.	.	.	.	.	.	.	.	.	A	32	5.111957	0.94339	.	.	ENSG00000205339	ENST00000379719	T	0.67345	-0.26	5.06	5.06	0.68205	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.79896	0.4525	M	0.86953	2.85	0.80722	D	1	D	0.57571	0.98	P	0.56751	0.805	T	0.80529	-0.1342	10	0.28530	T	0.3	.	14.8042	0.69938	1.0:0.0:0.0:0.0	.	750	O95373	IPO7_HUMAN	E	750	ENSP00000369042:K750E	ENSP00000369042:K750E	K	+	1	0	IPO7	9414469	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.339000	0.96797	1.920000	0.55613	0.455000	0.32223	AAA	IPO7	-	superfamily_ARM-type_fold		0.403	IPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IPO7	HGNC	protein_coding	OTTHUMT00000386022.1	A	NM_006391		9457893	+1	no_errors	ENST00000379719	ensembl	human	known	70_37	missense	SNP	1.000	G
KCNJ11	3767	genome.wustl.edu	37	11	17408655	17408655	+	Silent	SNP	C	C	T			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr11:17408655C>T	ENST00000339994.4	-	1	1551	c.984G>A	c.(982-984)gtG>gtA	p.V328V	KCNJ11_ENST00000528731.1_Silent_p.V241V|KCNJ11_ENST00000526747.1_5'Flank	NM_000525.3	NP_000516.3	Q14654	KCJ11_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 11	328					cellular response to glucose stimulus (GO:0071333)|cellular response to nicotine (GO:0071316)|cellular response to tumor necrosis factor (GO:0071356)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|negative regulation of insulin secretion (GO:0046676)|neurological system process (GO:0050877)|positive regulation of cation channel activity (GO:2001259)|potassium ion import (GO:0010107)|potassium ion transmembrane transport (GO:0071805)|regulation of insulin secretion (GO:0050796)|regulation of membrane potential (GO:0042391)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ischemia (GO:0002931)|response to testosterone (GO:0033574)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	ATP-sensitive potassium channel complex (GO:0008282)|axolemma (GO:0030673)|cell body fiber (GO:0070852)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|mitochondrion (GO:0005739)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|ATP-activated inward rectifier potassium channel activity (GO:0015272)|ion channel binding (GO:0044325)|potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(3)|skin(2)	16				READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633)	Diazoxide(DB01119)|Glimepiride(DB00222)|Glyburide(DB01016)|Ibutilide(DB00308)|Levosimendan(DB00922)|Thiamylal(DB01154)|Verapamil(DB00661)|Yohimbine(DB01392)	TGGAGTAGTCCACAGAGTAAC	0.607											OREG0020810	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													178.0	154.0	162.0					11																	17408655		2200	4293	6493	SO:0001819	synonymous_variant	3767			D50582	CCDS31436.1, CCDS53606.1	11p15.1	2011-07-05						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6257	protein-coding gene	gene with protein product		600937				7502040, 16382105	Standard	NM_001166290		Approved	Kir6.2, BIR	uc001mna.3	Q14654		ENST00000339994.4:c.984G>A	11.37:g.17408655C>T		Somatic	717	WXS	Illumina HiSeq	Phase_IV	B4DWI4|E9PNK0|Q2M1H7|Q58EX3|Q8IW96	Silent	SNP	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir6.2	p.V328	ENST00000339994.4	37	c.984	CCDS31436.1	11																																																																																			KCNJ11	-	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir		0.607	KCNJ11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ11	HGNC	protein_coding	OTTHUMT00000387037.1	C	NM_000525		17408655	-1	no_errors	ENST00000339994	ensembl	human	known	70_37	silent	SNP	1.000	T
KCNS1	3787	genome.wustl.edu	37	20	43726320	43726320	+	Silent	SNP	G	G	A			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr20:43726320G>A	ENST00000306117.1	-	4	1489	c.1093C>T	c.(1093-1095)Ctg>Ttg	p.L365L	KCNS1_ENST00000537075.1_Silent_p.L365L	NM_002251.3	NP_002242.2	Q96KK3	KCNS1_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 1	365					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel regulator activity (GO:0015459)			endometrium(1)|lung(3)|ovary(1)|stomach(1)	6		Myeloproliferative disorder(115;0.0122)				GTGGCTCCCAGCGAGCGCAGC	0.647																																																	0													24.0	22.0	22.0					20																	43726320		2202	4297	6499	SO:0001819	synonymous_variant	3787			AF043473	CCDS13342.1	20q12	2011-07-05			ENSG00000124134	ENSG00000124134		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6300	protein-coding gene	gene with protein product		602905				9305895, 16382104	Standard	NM_002251		Approved	Kv9.1	uc002xnc.3	Q96KK3	OTTHUMG00000033079	ENST00000306117.1:c.1093C>T	20.37:g.43726320G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A2RUL9|B7ZM31|O43652|Q6DJU6	Silent	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv6	p.L365	ENST00000306117.1	37	c.1093	CCDS13342.1	20																																																																																			KCNS1	-	pfam_Ion_trans_dom,prints_K_chnl		0.647	KCNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNS1	HGNC	protein_coding	OTTHUMT00000080507.3	G	NM_002251		43726320	-1	no_errors	ENST00000306117	ensembl	human	known	70_37	silent	SNP	0.999	A
KLHL15	80311	genome.wustl.edu	37	X	24006425	24006425	+	Silent	SNP	G	G	A			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chrX:24006425G>A	ENST00000328046.8	-	4	1683	c.1428C>T	c.(1426-1428)taC>taT	p.Y476Y		NM_030624.2	NP_085127.2	Q96M94	KLH15_HUMAN	kelch-like family member 15	476					protein ubiquitination (GO:0016567)					autonomic_ganglia(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	22						AGCATCTCGCGTAATTCATCT	0.468																																																	0													192.0	171.0	178.0					X																	24006425		2203	4300	6503	SO:0001819	synonymous_variant	80311			AB051464	CCDS35217.1	Xp22.1-p21	2013-01-30	2013-01-30		ENSG00000174010	ENSG00000174010		"""Kelch-like"", ""BTB/POZ domain containing"""	29347	protein-coding gene	gene with protein product			"""kelch-like 15 (Drosophila)"""			11214970, 14702039	Standard	NM_030624		Approved	KIAA1677	uc004dba.4	Q96M94	OTTHUMG00000021261	ENST00000328046.8:c.1428C>T	X.37:g.24006425G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q32MN3|Q8NDA3|Q96BM6|Q9C0I6	Silent	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.Y476	ENST00000328046.8	37	c.1428	CCDS35217.1	X																																																																																			KLHL15	-	smart_Kelch_1,pirsf_Kelch-like_gigaxonin		0.468	KLHL15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL15	HGNC	protein_coding	OTTHUMT00000056078.1	G	XM_040383		24006425	-1	no_errors	ENST00000328046	ensembl	human	known	70_37	silent	SNP	0.905	A
KLHL4	56062	genome.wustl.edu	37	X	86890562	86890562	+	Splice_Site	SNP	G	G	T			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chrX:86890562G>T	ENST00000373119.4	+	9	1857		c.e9-1		KLHL4_ENST00000373114.4_Splice_Site	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4							cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						TTTTTATCTAGATTATATGCT	0.378																																																	0													79.0	68.0	72.0					X																	86890562		2203	4300	6503	SO:0001630	splice_region_variant	56062			AF284765	CCDS14456.1, CCDS14457.1	Xq21.3	2013-01-30	2013-01-30		ENSG00000102271	ENSG00000102271		"""Kelch-like"", ""BTB/POZ domain containing"""	6355	protein-coding gene	gene with protein product		300348	"""kelch (Drosophila)-like 4"", ""kelch-like 4 (Drosophila)"""			11401425	Standard	NM_019117		Approved	KIAA1687, DKELCHL, KHL4	uc004efa.2	Q9C0H6	OTTHUMG00000021946	ENST00000373119.4:c.1713-1G>T	X.37:g.86890562G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RTW2|Q9Y3J5	Splice_Site	SNP	-	e9-1	ENST00000373119.4	37	c.1713-1	CCDS14457.1	X	.	.	.	.	.	.	.	.	.	.	G	21.0	4.082775	0.76528	.	.	ENSG00000102271	ENST00000373119;ENST00000373114	.	.	.	4.44	3.58	0.41010	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.8468	0.46746	0.0949:0.0:0.9051:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KLHL4	86777218	1.000000	0.71417	0.019000	0.16419	0.771000	0.43674	8.896000	0.92521	0.988000	0.38734	0.513000	0.50165	.	KLHL4	-	-		0.378	KLHL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL4	HGNC	protein_coding	OTTHUMT00000057413.1	G		Intron	86890562	+1	no_errors	ENST00000373114	ensembl	human	known	70_37	splice_site	SNP	0.953	T
KPNA7	402569	genome.wustl.edu	37	7	98775650	98775650	+	Silent	SNP	G	G	A			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr7:98775650G>A	ENST00000327442.6	-	9	1396	c.1357C>T	c.(1357-1359)Ctg>Ttg	p.L453L		NM_001145715.1	NP_001139187.1	A9QM74	IMA8_HUMAN	karyopherin alpha 7 (importin alpha 8)	453					cytokine-mediated signaling pathway (GO:0019221)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	protein transporter activity (GO:0008565)			breast(3)|endometrium(2)|kidney(1)|prostate(1)|skin(1)	8						TCTTCTATCAGAAGACACAGG	0.512																																																	0													194.0	151.0	164.0					7																	98775650		692	1591	2283	SO:0001819	synonymous_variant	402569				CCDS47651.1	7q22.1	2013-02-14			ENSG00000185467	ENSG00000185467		"""Importins"", ""Armadillo repeat containing"""	21839	protein-coding gene	gene with protein product		614107					Standard	NM_001145715		Approved		uc010lft.2	A9QM74	OTTHUMG00000154412	ENST00000327442.6:c.1357C>T	7.37:g.98775650G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A4D277	Silent	SNP	pfam_Armadillo,pfam_HEAT,pfam_Importin-a_IBB,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB	p.L453	ENST00000327442.6	37	c.1357	CCDS47651.1	7																																																																																			KPNA7	-	superfamily_ARM-type_fold		0.512	KPNA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KPNA7	HGNC	protein_coding	OTTHUMT00000335118.1	G	NM_001145715		98775650	-1	no_errors	ENST00000327442	ensembl	human	known	70_37	silent	SNP	0.775	A
LDHAL6B	92483	genome.wustl.edu	37	15	59500058	59500058	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr15:59500058G>A	ENST00000307144.4	+	1	1017	c.919G>A	c.(919-921)Gat>Aat	p.D307N	MYO1E_ENST00000288235.4_Intron	NM_033195.2	NP_149972.1	Q9BYZ2	LDH6B_HUMAN	lactate dehydrogenase A-like 6B	307					cellular carbohydrate metabolic process (GO:0044262)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	L-lactate dehydrogenase activity (GO:0004459)	p.D307N(1)		endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)	10						ATCTGTGGCCGATTTAACAGA	0.373																																																	1	Substitution - Missense(1)	large_intestine(1)											68.0	71.0	70.0					15																	59500058		2191	4290	6481	SO:0001583	missense	92483			AY009108	CCDS10171.1	15q21.3	2011-01-27	2004-07-27	2004-07-28	ENSG00000171989	ENSG00000171989			21481	protein-coding gene	gene with protein product			"""lactate dehydrogenase A-like 6"""	LDHAL6		15870898	Standard	NM_033195		Approved	LDHL, LDH6B	uc002agb.4	Q9BYZ2	OTTHUMG00000132714	ENST00000307144.4:c.919G>A	15.37:g.59500058G>A	ENSP00000302393:p.Asp307Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6DUY4|Q96LI2	Missense_Mutation	SNP	pfam_Lactate/malate_DH_N,pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C,pirsf_L-lactate/malate_DH,prints_L-lactate/malate_DH,tigrfam_L-lactate_DH	p.D307N	ENST00000307144.4	37	c.919	CCDS10171.1	15	.	.	.	.	.	.	.	.	.	.	G	19.53	3.845406	0.71603	.	.	ENSG00000171989	ENST00000307144	T	0.68331	-0.32	1.47	1.47	0.22746	Lactate/malate dehydrogenase, C-terminal (1);Lactate dehydrogenase/glycoside hydrolase, family 4, C-terminal (2);	0.000000	0.64402	U	0.000002	T	0.70124	0.3188	M	0.75447	2.3	0.43439	D	0.995619	D	0.56287	0.975	P	0.51945	0.685	T	0.70296	-0.4911	10	0.51188	T	0.08	.	8.4578	0.32910	0.0:0.0:1.0:0.0	.	307	Q9BYZ2	LDH6B_HUMAN	N	307	ENSP00000302393:D307N	ENSP00000302393:D307N	D	+	1	0	LDHAL6B	57287350	1.000000	0.71417	0.004000	0.12327	0.639000	0.38242	6.111000	0.71541	0.784000	0.33661	0.305000	0.20034	GAT	LDHAL6B	-	pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C,pirsf_L-lactate/malate_DH,tigrfam_L-lactate_DH		0.373	LDHAL6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LDHAL6B	HGNC	protein_coding	OTTHUMT00000256015.1	G	NM_033195		59500058	+1	no_errors	ENST00000307144	ensembl	human	known	70_37	missense	SNP	0.998	A
LHFPL1	340596	genome.wustl.edu	37	X	111914462	111914462	+	Missense_Mutation	SNP	G	G	T			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chrX:111914462G>T	ENST00000371968.3	-	2	396	c.157C>A	c.(157-159)Cct>Act	p.P53T	LHFPL1_ENST00000478229.1_Intron|LHFPL1_ENST00000536453.1_Missense_Mutation_p.P53T	NM_178175.3	NP_835469.1	Q86WI0	LHPL1_HUMAN	lipoma HMGIC fusion partner-like 1	53						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)	13						CCCCGCACAGGGTAGTTGCAC	0.547																																																	0													166.0	150.0	156.0					X																	111914462		2203	4300	6503	SO:0001583	missense	340596			AY217350	CCDS14562.1	Xq23	2008-02-05			ENSG00000182508	ENSG00000182508			6587	protein-coding gene	gene with protein product		300566				10329012	Standard	NM_178175		Approved		uc004epq.3	Q86WI0	OTTHUMG00000022214	ENST00000371968.3:c.157C>A	X.37:g.111914462G>T	ENSP00000361036:p.Pro53Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K1N1|Q496M9|Q496N0|Q6UXU2	Missense_Mutation	SNP	pfam_Lipome_HGMIC_fus_partner-like	p.P53T	ENST00000371968.3	37	c.157	CCDS14562.1	X	.	.	.	.	.	.	.	.	.	.	G	21.7	4.192323	0.78902	.	.	ENSG00000182508	ENST00000371968;ENST00000536453	T;T	0.73897	-0.79;0.75	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	D	0.85652	0.5746	M	0.85197	2.74	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.996;0.998	T	0.83314	-0.0021	10	0.12103	T	0.63	-29.699	15.1347	0.72555	0.0:0.0:1.0:0.0	.	53;53	Q86WI0-2;Q86WI0	.;LHPL1_HUMAN	T	53	ENSP00000361036:P53T;ENSP00000444573:P53T	ENSP00000361036:P53T	P	-	1	0	LHFPL1	111801118	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.263000	0.95617	2.456000	0.83038	0.600000	0.82982	CCT	LHFPL1	-	pfam_Lipome_HGMIC_fus_partner-like		0.547	LHFPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LHFPL1	HGNC	protein_coding	OTTHUMT00000057947.1	G	NM_178175		111914462	-1	no_errors	ENST00000371968	ensembl	human	known	70_37	missense	SNP	1.000	T
LOC388572	388572	genome.wustl.edu	37	11	134670	134670	+	RNA	SNP	C	C	G			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr11:134670C>G	ENST00000527297.1	+	0	235																											GAGGCAGTAGCCTCATCTGCG	0.567																																																	0																																												101060495																															11.37:g.134670C>G		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000527297.1	37	NULL		11																																																																																			RP11-304M2.2	-	-		0.567	RP11-304M2.3-001	KNOWN	basic	antisense	LOC101060495	Clone_based_vega_gene	antisense	OTTHUMT00000384758.1	C			134670	-1	no_errors	ENST00000527683	ensembl	human	known	70_37	rna	SNP	0.786	G
LSG1	55341	genome.wustl.edu	37	3	194373732	194373732	+	Missense_Mutation	SNP	G	G	A	rs375975830		TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr3:194373732G>A	ENST00000265245.5	-	8	1213	c.899C>T	c.(898-900)aCg>aTg	p.T300M		NM_018385.2	NP_060855.2	Q9H089	LSG1_HUMAN	large 60S subunit nuclear export GTPase 1	300	CP-type G. {ECO:0000255|PROSITE- ProRule:PRU01058}.				GTP catabolic process (GO:0006184)|nuclear export (GO:0051168)|protein transport (GO:0015031)|ribosome biogenesis (GO:0042254)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(2)|endometrium(3)|large_intestine(2)|lung(9)	16	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)		ATCTTCATCCGTTGTGGGATT	0.502																																																	0								G	MET/THR	1,4405	2.1+/-5.4	0,1,2202	119.0	107.0	111.0		899	3.2	0.0	3		111	0,8600		0,0,4300	no	missense	LSG1	NM_018385.2	81	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	300/659	194373732	1,13005	2203	4300	6503	SO:0001583	missense	55341				CCDS33922.1	3q29	2013-08-21	2013-08-21		ENSG00000041802	ENSG00000041802			25652	protein-coding gene	gene with protein product		610780	"""large subunit GTPase 1 homolog (S. cerevisiae)"""			11230166	Standard	NM_018385		Approved	FLJ11301	uc003fui.3	Q9H089	OTTHUMG00000156021	ENST00000265245.5:c.899C>T	3.37:g.194373732G>A	ENSP00000265245:p.Thr300Met	Somatic		WXS	Illumina HiSeq	Phase_IV	A0JLT4|A0PJK3|A6NI18|Q7L9H8|Q9NUK8	Missense_Mutation	SNP	pfam_GTP_binding_domain,prints_GTP_binding_domain	p.T300M	ENST00000265245.5	37	c.899	CCDS33922.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.18|14.18	2.459770|2.459770	0.43736|0.43736	2.27E-4|2.27E-4	0.0|0.0	ENSG00000041802|ENSG00000041802	ENST00000437613|ENST00000265245	.|T	.|0.44482	.|0.92	5.0|5.0	3.2|3.2	0.36748|0.36748	.|.	.|0.823847	.|0.11408	.|N	.|0.567049	T|T	0.23886|0.23886	0.0578|0.0578	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	.|D	.|0.54397	.|0.966	.|B	.|0.40329	.|0.326	T|T	0.04307|0.04307	-1.0961|-1.0961	5|10	.|0.48119	.|T	.|0.1	.|.	6.8401|6.8401	0.23957|0.23957	0.0:0.4782:0.4208:0.1009|0.0:0.4782:0.4208:0.1009	.|.	.|300	.|Q9H089	.|LSG1_HUMAN	W|M	34|300	.|ENSP00000265245:T300M	.|ENSP00000265245:T300M	R|T	-|-	1|2	2|0	LSG1|LSG1	195855021|195855021	0.002000|0.002000	0.14202|0.14202	0.014000|0.014000	0.15608|0.15608	0.020000|0.020000	0.10135|0.10135	0.272000|0.272000	0.18644|0.18644	1.424000|1.424000	0.47217|0.47217	0.655000|0.655000	0.94253|0.94253	CGG|ACG	LSG1	-	NULL		0.502	LSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LSG1	HGNC	protein_coding	OTTHUMT00000342740.1	G	NM_018385		194373732	-1	no_errors	ENST00000265245	ensembl	human	known	70_37	missense	SNP	0.004	A
MCF2	4168	genome.wustl.edu	37	X	138774282	138774282	+	Start_Codon_SNP	SNP	C	C	A			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chrX:138774282C>A	ENST00000370578.4	-	1	2	c.3G>T	c.(1-3)atG>atT	p.M1I	MCF2_ENST00000520602.1_5'UTR|MCF2_ENST00000414978.1_Intron|MCF2_ENST00000519895.1_Intron			P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	0	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)					CAGCTTGGGGCATGTGCCTGG	0.706																																																	0																																										SO:0001582	initiator_codon_variant	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.3G>T	X.37:g.138774282C>A	ENSP00000359610:p.Met1Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z3Y5|B7Z869|B7ZAV1|E9PH77|F5H091|P14919|Q5JYJ2|Q5JYJ3|Q5JYJ4|Q8IUF3|Q8IUF4|Q9UJB3	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.M1I	ENST00000370578.4	37	c.3		X	.	.	.	.	.	.	.	.	.	.	c	3.272	-0.148941	0.06585	.	.	ENSG00000101977	ENST00000370578	T	0.32515	1.45	2.81	-0.139	0.13460	.	.	.	.	.	T	0.18341	0.0440	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.23762	-1.0179	8	0.52906	T	0.07	.	2.7294	0.05223	0.1749:0.5284:0.1706:0.126	.	1	B7Z3Z2	.	I	1	ENSP00000359610:M1I	ENSP00000359610:M1I	M	-	3	0	MCF2	138601948	0.000000	0.05858	0.000000	0.03702	0.044000	0.14063	0.107000	0.15375	-0.484000	0.06763	-1.806000	0.00616	ATG	MCF2	-	NULL		0.706	MCF2-201	KNOWN	basic	protein_coding	MCF2	HGNC	protein_coding		C	NM_005369	Missense_Mutation	138774282	-1	no_errors	ENST00000370578	ensembl	human	known	70_37	missense	SNP	0.000	A
MEGF8	1954	genome.wustl.edu	37	19	42875608	42875608	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr19:42875608G>A	ENST00000251268.6	+	41	7243	c.7243G>A	c.(7243-7245)Gac>Aac	p.D2415N	MEGF8_ENST00000378073.4_Intron|MEGF8_ENST00000334370.4_Missense_Mutation_p.D2348N	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	2415	Laminin EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00460}.				BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CTCCCCCAGTGACCGTCGAGA	0.607																																																	0													80.0	67.0	71.0					19																	42875608		2203	4300	6503	SO:0001583	missense	1954			AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"""HBV pre s2 binding protein 1"""	604267	"""EGF-like-domain, multiple 4"", ""chromosome 19 open reading frame 49"""	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.7243G>A	19.37:g.42875608G>A	ENSP00000251268:p.Asp2415Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A8KAY0|O75097	Missense_Mutation	SNP	pfam_CUB,pfam_EGF_laminin,pfam_Plexin_repeat,superfamily_Gal_Oxase/kelch_b-propeller,superfamily_CUB,superfamily_Plexin-like_fold,smart_CUB,smart_EG-like_dom,smart_Plexin-like,smart_EGF-like_Ca-bd,smart_EGF_laminin,pfscan_CUB,pfscan_EG-like_dom,pfscan_EGF_laminin	p.D2415N	ENST00000251268.6	37	c.7243		19	.	.	.	.	.	.	.	.	.	.	G	33	5.275061	0.95459	.	.	ENSG00000105429	ENST00000334370;ENST00000251268	T;T	0.20200	2.09;2.09	4.91	4.91	0.64330	EGF-like, laminin (1);	0.000000	0.85682	D	0.000000	T	0.28928	0.0718	N	0.22421	0.69	0.80722	D	1	D;D	0.60160	0.958;0.987	P;P	0.59357	0.613;0.856	T	0.01739	-1.1284	10	0.30854	T	0.27	-23.3963	17.7317	0.88379	0.0:0.0:1.0:0.0	.	2415;2348	Q7Z7M0;Q7Z7M0-2	MEGF8_HUMAN;.	N	2348;2415	ENSP00000334219:D2348N;ENSP00000251268:D2415N	ENSP00000251268:D2415N	D	+	1	0	MEGF8	47567448	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.371000	0.90123	2.659000	0.90383	0.561000	0.74099	GAC	MEGF8	-	smart_EG-like_dom		0.607	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	MEGF8	HGNC	protein_coding	OTTHUMT00000463854.1	G	NM_001410		42875608	+1	no_errors	ENST00000251268	ensembl	human	known	70_37	missense	SNP	1.000	A
MMP14	4323	genome.wustl.edu	37	14	23312944	23312944	+	Silent	SNP	G	G	A			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr14:23312944G>A	ENST00000311852.6	+	6	1137	c.876G>A	c.(874-876)aaG>aaA	p.K292K	MMP14_ENST00000548162.1_3'UTR	NM_004995.2	NP_004986.1	P50281	MMP14_HUMAN	matrix metallopeptidase 14 (membrane-inserted)	292					angiogenesis (GO:0001525)|astrocyte cell migration (GO:0043615)|branching morphogenesis of an epithelial tube (GO:0048754)|chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|endodermal cell differentiation (GO:0035987)|endothelial cell proliferation (GO:0001935)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|male gonad development (GO:0008584)|negative regulation of focal adhesion assembly (GO:0051895)|ovarian follicle development (GO:0001541)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|proteolysis (GO:0006508)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|tissue remodeling (GO:0048771)|zymogen activation (GO:0031638)	extracellular matrix (GO:0031012)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|peptidase activator activity (GO:0016504)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)	Marimastat(DB00786)	TCCCCACCAAGATGCCCCCTC	0.582																																																	0													111.0	120.0	117.0					14																	23312944		2203	4300	6503	SO:0001819	synonymous_variant	4323				CCDS9577.1	14q11-q12	2011-06-29	2005-08-08		ENSG00000157227	ENSG00000157227			7160	protein-coding gene	gene with protein product	"""membrane type 1 metalloprotease"""	600754	"""matrix metalloproteinase 14 (membrane-inserted)"""			8015608	Standard	NM_004995		Approved	MT1-MMP	uc001whc.3	P50281	OTTHUMG00000028704	ENST00000311852.6:c.876G>A	14.37:g.23312944G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K5L0|Q6GSF3|Q92678	Silent	SNP	pfam_Hemopexin/matrixin_repeat,pfam_Pept_M10_metallopeptidase,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin	p.K292	ENST00000311852.6	37	c.876	CCDS9577.1	14																																																																																			MMP14	-	pirsf_Pept_M10A_matrix_strom		0.582	MMP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP14	HGNC	protein_coding	OTTHUMT00000071660.3	G	NM_004995		23312944	+1	no_errors	ENST00000311852	ensembl	human	known	70_37	silent	SNP	0.997	A
MPP3	4356	genome.wustl.edu	37	17	41905135	41905135	+	Silent	SNP	G	G	A	rs560477482	byFrequency	TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr17:41905135G>A	ENST00000398389.4	-	8	672	c.507C>T	c.(505-507)ggC>ggT	p.G169G	MPP3_ENST00000398393.1_Silent_p.G194G	NM_001932.4	NP_001923.2	Q13368	MPP3_HUMAN	membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3)	169	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	guanylate kinase activity (GO:0004385)			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Breast(137;0.00394)		BRCA - Breast invasive adenocarcinoma(366;0.119)		TGTCTGCTGCGCCTCCTCGCA	0.612													G|||	2	0.000399361	0.0	0.0	5008	,	,		15659	0.002		0.0	False		,,,				2504	0.0																0													40.0	50.0	47.0					17																	41905135		2150	4247	6397	SO:0001819	synonymous_variant	4356				CCDS42344.1	17q12-q21	2008-07-18			ENSG00000161647	ENSG00000161647			7221	protein-coding gene	gene with protein product	"""MAGUK p55 subfamily member 3"", ""discs, large (Drosophila) homolog 3"", ""membrane protein palmitoylated 3"""	601114		DLG3		8824795	Standard	NR_003562		Approved		uc002iei.4	Q13368	OTTHUMG00000133838	ENST00000398389.4:c.507C>T	17.37:g.41905135G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R7N0|D3DX47|Q4GX05|Q6PGR3|Q86SV1	Silent	SNP	pfam_Guanylate_kin,pfam_L27_C,pfam_PDZ,pfam_SH3_2,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin	p.G169	ENST00000398389.4	37	c.507	CCDS42344.1	17																																																																																			MPP3	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ		0.612	MPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPP3	HGNC	protein_coding	OTTHUMT00000258371.1	G	NM_001932		41905135	-1	no_errors	ENST00000398389	ensembl	human	known	70_37	silent	SNP	0.709	A
MSANTD1	345222	genome.wustl.edu	37	4	3251157	3251157	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr4:3251157C>T	ENST00000438480.2	+	1	1955	c.208C>T	c.(208-210)Cgc>Tgc	p.R70C	MSANTD1_ENST00000507492.1_Missense_Mutation_p.R57C|MSANTD1_ENST00000510580.1_Missense_Mutation_p.R70C	NM_001042690.1	NP_001036155.1	Q6ZTZ1	MSD1_HUMAN	Myb/SANT-like DNA-binding domain containing 1	70	Myb-like.									endometrium(1)|lung(2)	3						GCAGACCAAGCGCAACGCCAA	0.622																																																	0													42.0	42.0	42.0					4																	3251157		2201	4298	6499	SO:0001583	missense	345222				CCDS47003.1	4p16.2	2012-03-02	2012-03-02	2012-03-02	ENSG00000188981	ENSG00000188981			33741	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 44"""	C4orf44			Standard	NM_001042690		Approved	LOC345222	uc003ggs.3	Q6ZTZ1	OTTHUMG00000159977	ENST00000438480.2:c.208C>T	4.37:g.3251157C>T	ENSP00000411584:p.Arg70Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	C9J6V0	Missense_Mutation	SNP	NULL	p.R70C	ENST00000438480.2	37	c.208	CCDS47003.1	4	.	.	.	.	.	.	.	.	.	.	C	20.6	4.020640	0.75275	.	.	ENSG00000188981	ENST00000507492;ENST00000438480;ENST00000510580	T;T;T	0.52526	0.66;0.66;0.66	4.68	3.77	0.43336	.	0.000000	0.85682	D	0.000000	T	0.60560	0.2278	L	0.55481	1.735	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.69824	0.966;0.95	T	0.64097	-0.6487	10	0.87932	D	0	.	11.722	0.51688	0.259:0.741:0.0:0.0	.	70;70	D6RD98;Q6ZTZ1	.;CD044_HUMAN	C	57;70;70	ENSP00000423547:R57C;ENSP00000411584:R70C;ENSP00000420966:R70C	ENSP00000411584:R70C	R	+	1	0	C4orf44	3220955	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.731000	0.55013	2.140000	0.66376	0.591000	0.81541	CGC	MSANTD1	-	NULL		0.622	MSANTD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MSANTD1	HGNC	protein_coding	OTTHUMT00000370924.1	C	NM_001012982		3251157	+1	no_errors	ENST00000438480	ensembl	human	known	70_37	missense	SNP	1.000	T
NF1	4763	genome.wustl.edu	37	17	29559809	29559809	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr17:29559809C>T	ENST00000358273.4	+	26	3789	c.3406C>T	c.(3406-3408)Cgg>Tgg	p.R1136W	NF1_ENST00000356175.3_Missense_Mutation_p.R1136W	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1136					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)|p.R1136W(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TGGCATGTCTCGGAGGCTGGC	0.453			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																													yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	13	Whole gene deletion(8)|Unknown(4)|Substitution - Missense(1)	soft_tissue(7)|lung(2)|autonomic_ganglia(2)|central_nervous_system(2)											119.0	100.0	106.0					17																	29559809		2203	4300	6503	SO:0001583	missense	4763	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.3406C>T	17.37:g.29559809C>T	ENSP00000351015:p.Arg1136Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP	p.R1136W	ENST00000358273.4	37	c.3406	CCDS42292.1	17	.	.	.	.	.	.	.	.	.	.	C	21.1	4.104493	0.77096	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	T;T;T	0.09911	3.1;3.24;2.93	5.55	4.55	0.56014	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.23492	0.0568	L	0.39898	1.24	0.80722	D	1	D;D;D;D	0.89917	0.999;0.998;1.0;0.993	P;P;D;D	0.79108	0.859;0.849;0.992;0.937	T	0.00299	-1.1836	10	0.66056	D	0.02	.	13.5041	0.61474	0.2809:0.7191:0.0:0.0	.	1136;186;1136;1136	E1P657;Q59FX3;P21359-2;P21359	.;.;.;NF1_HUMAN	W	1136;1136;802	ENSP00000351015:R1136W;ENSP00000348498:R1136W;ENSP00000389907:R802W	ENSP00000348498:R1136W	R	+	1	2	NF1	26583935	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.707000	0.47143	2.612000	0.88384	0.555000	0.69702	CGG	NF1	-	superfamily_ARM-type_fold		0.453	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NF1	HGNC	protein_coding	OTTHUMT00000256351.2	C	NM_000267		29559809	+1	no_errors	ENST00000358273	ensembl	human	known	70_37	missense	SNP	1.000	T
NR1H3	10062	genome.wustl.edu	37	11	47283254	47283254	+	Silent	SNP	C	C	T			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr11:47283254C>T	ENST00000467728.1	+	5	2103	c.865C>T	c.(865-867)Ctg>Ttg	p.L289L	NR1H3_ENST00000481889.2_Silent_p.L244L|NR1H3_ENST00000395397.3_Silent_p.L244L|NR1H3_ENST00000529540.1_3'UTR|NR1H3_ENST00000405576.1_Intron|NR1H3_ENST00000407404.1_Intron|NR1H3_ENST00000527949.1_Intron|NR1H3_ENST00000441012.2_Silent_p.L289L|NR1H3_ENST00000405853.3_Intron			Q13133	NR1H3_HUMAN	nuclear receptor subfamily 1, group H, member 3	289	Ligand-binding. {ECO:0000255}.				apoptotic cell clearance (GO:0043277)|cellular lipid metabolic process (GO:0044255)|cellular response to lipopolysaccharide (GO:0071222)|cholesterol homeostasis (GO:0042632)|gene expression (GO:0010467)|lipid homeostasis (GO:0055088)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of lipid transport (GO:0032369)|negative regulation of macrophage activation (GO:0043031)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of pinocytosis (GO:0048550)|negative regulation of proteolysis (GO:0045861)|negative regulation of secretion of lysosomal enzymes (GO:0090341)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cholesterol homeostasis (GO:2000188)|regulation of circadian rhythm (GO:0042752)|response to progesterone (GO:0032570)|sterol homeostasis (GO:0055092)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|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)|steroid hormone receptor activity (GO:0003707)|sterol response element binding (GO:0032810)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						CCAGATTGCCCTGCTGAAGAC	0.577																																																	0													58.0	56.0	56.0					11																	47283254		2201	4298	6499	SO:0001819	synonymous_variant	10062			U22662	CCDS7929.1, CCDS44584.1, CCDS44585.1, CCDS73285.1	11p11.2	2013-01-16			ENSG00000025434	ENSG00000025434		"""Nuclear hormone receptors"""	7966	protein-coding gene	gene with protein product	"""liver X receptor-alpha"""	602423				8621574, 7744246	Standard	NM_005693		Approved	LXR-a, RLD-1	uc009ylm.3	Q13133	OTTHUMG00000150628	ENST00000467728.1:c.865C>T	11.37:g.47283254C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K3J9|D3DQR1|Q8IW13|Q96H87	Silent	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Liver_X_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_ThyrH_rcpt,prints_Ecdystd_rcpt	p.L289	ENST00000467728.1	37	c.865	CCDS7929.1	11																																																																																			NR1H3	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt,prints_ThyrH_rcpt		0.577	NR1H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR1H3	HGNC	protein_coding	OTTHUMT00000319214.3	C			47283254	+1	no_errors	ENST00000441012	ensembl	human	known	70_37	silent	SNP	0.997	T
NT5C2	22978	genome.wustl.edu	37	10	104913048	104913048	+	Intron	SNP	C	C	A			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr10:104913048C>A	ENST00000404739.3	-	2	125				NT5C2_ENST00000343289.5_Intron|NT5C2_ENST00000423468.2_Splice_Site_p.G5V|NT5C2_ENST00000369857.4_Intron|NT5C2_ENST00000470299.1_Intron			P49902	5NTC_HUMAN	5'-nucleotidase, cytosolic II						cell death (GO:0008219)|dephosphorylation (GO:0016311)|drug metabolic process (GO:0017144)|nucleobase-containing small molecule metabolic process (GO:0055086)|phosphorylation (GO:0016310)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	5'-nucleotidase activity (GO:0008253)|metal ion binding (GO:0046872)|nucleoside phosphotransferase activity (GO:0050146)|nucleotide binding (GO:0000166)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|urinary_tract(1)	16		all_hematologic(284;0.176)|Colorectal(252;0.178)		Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159)	Adenosine triphosphate(DB00171)|Ribavirin(DB00811)	AATCACTTACCCTTCCTTAGA	0.358																																																	0																																										SO:0001627	intron_variant	22978			D38524	CCDS7544.1	10q24.32	2014-03-03	2002-04-18	2002-04-19	ENSG00000076685	ENSG00000076685			8022	protein-coding gene	gene with protein product	"""purine 5' nucleotidase"""	600417	"""5'-nucleotidase (purine), cytosolic type B"""	NT5B		7999131, 24482476	Standard	NM_012229		Approved	PNT5, GMP, cN-II, SPG65	uc001kwq.3	P49902	OTTHUMG00000018981	ENST00000404739.3:c.102-13812G>T	10.37:g.104913048C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z382|D3DR91|Q5JUV5	Missense_Mutation	SNP	pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom,pirsf_Pur_nucleotidase,tigrfam_HAD-SF_hydro_IG_5-nucl	p.G5V	ENST00000404739.3	37	c.14	CCDS7544.1	10	.	.	.	.	.	.	.	.	.	.	C	14.32	2.498928	0.44455	.	.	ENSG00000076685	ENST00000423468	T	0.23348	1.91	5.59	5.59	0.84812	.	.	.	.	.	T	0.48874	0.1524	.	.	.	0.50467	D	0.999878	D	0.64830	0.994	D	0.67725	0.953	T	0.39603	-0.9606	7	.	.	.	.	15.0908	0.72192	0.0:1.0:0.0:0.0	.	5	B7Z382	.	V	5	ENSP00000392236:G5V	.	G	-	2	0	NT5C2	104903038	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	3.906000	0.56340	2.642000	0.89623	0.563000	0.77884	GGG	NT5C2	-	superfamily_HAD-like_dom,pirsf_Pur_nucleotidase		0.358	NT5C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NT5C2	HGNC	protein_coding	OTTHUMT00000050121.1	C	NM_012229		104913048	-1	no_errors	ENST00000423468	ensembl	human	known	70_37	missense	SNP	1.000	A
NTN3	4917	genome.wustl.edu	37	16	2521965	2521965	+	Missense_Mutation	SNP	C	C	A	rs201589632		TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr16:2521965C>A	ENST00000293973.1	+	1	466	c.263C>A	c.(262-264)gCc>gAc	p.A88D		NM_006181.2	NP_006172.1	O00634	NET3_HUMAN	netrin 3	88	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)	Golgi apparatus (GO:0005794)|proteinaceous extracellular matrix (GO:0005578)		p.A88D(1)		breast(1)|central_nervous_system(2)|lung(3)|prostate(1)	7						GGGGGCACGGCCAGCCCTCTG	0.721																																																	1	Substitution - Missense(1)	prostate(1)																																								SO:0001583	missense	4917			U86759	CCDS10469.1	16p13.3	2013-03-01	2008-10-29	2008-10-29	ENSG00000162068	ENSG00000162068		"""Netrins"""	8030	protein-coding gene	gene with protein product	"""Netrin-3"""	602349	"""netrin 2 (chicken)-like"", ""netrin 2-like (chicken)"""	NTN2L		9143507, 10366627	Standard	NM_006181		Approved		uc002cqj.3	O00634	OTTHUMG00000128867	ENST00000293973.1:c.263C>A	16.37:g.2521965C>A	ENSP00000293973:p.Ala88Asp	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_N,pfam_Netrin_module_non-TIMP,superfamily_TIMP-like_OB-fold,smart_Laminin_N,smart_EGF_laminin,smart_Netrin_module_non-TIMP,pfscan_EGF_laminin,pfscan_Laminin_N,pfscan_Netrin_domain	p.A88D	ENST00000293973.1	37	c.263	CCDS10469.1	16	.	.	.	.	.	.	.	.	.	.	C	3.333	-0.136221	0.06711	.	.	ENSG00000162068	ENST00000293973	T	0.75938	-0.98	3.62	3.62	0.41486	Laminin, N-terminal (3);	0.342788	0.27236	N	0.020283	T	0.57725	0.2073	N	0.08118	0	0.20074	N	0.999934	B	0.30542	0.284	B	0.39299	0.296	T	0.46965	-0.9153	10	0.10902	T	0.67	.	14.0129	0.64507	0.0:1.0:0.0:0.0	.	88	O00634	NET3_HUMAN	D	88	ENSP00000293973:A88D	ENSP00000293973:A88D	A	+	2	0	NTN3	2461966	0.016000	0.18221	0.002000	0.10522	0.359000	0.29487	1.971000	0.40530	1.864000	0.54056	0.448000	0.29417	GCC	NTN3	-	pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N		0.721	NTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NTN3	HGNC	protein_coding	OTTHUMT00000250812.1	C	NM_006181		2521965	+1	no_errors	ENST00000293973	ensembl	human	known	70_37	missense	SNP	0.287	A
OR4A5	81318	genome.wustl.edu	37	11	51411741	51411741	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr11:51411741G>C	ENST00000319760.6	-	1	707	c.655C>G	c.(655-657)Cta>Gta	p.L219V		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	219			L -> Q (in dbSNP:rs35083184).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				AGGGAGCTTAGGATGACTCCA	0.438																																																	0													60.0	60.0	60.0					11																	51411741		2201	4295	6496	SO:0001583	missense	81318			AB065506	CCDS73289.1	11p11.12	2012-08-09			ENSG00000221840	ENSG00000221840		"""GPCR / Class A : Olfactory receptors"""	15162	protein-coding gene	gene with protein product							Standard	NM_001005272		Approved		uc001nhi.2	Q8NH83	OTTHUMG00000166764	ENST00000319760.6:c.655C>G	11.37:g.51411741G>C	ENSP00000367664:p.Leu219Val	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6IF84	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L219V	ENST00000319760.6	37	c.655	CCDS31497.1	11	.	.	.	.	.	.	.	.	.	.	.	5.740	0.321008	0.10845	.	.	ENSG00000221840	ENST00000319760	T	0.00188	8.59	1.93	-0.219	0.13135	GPCR, rhodopsin-like superfamily (1);	0.204155	0.24258	N	0.040117	T	0.00300	0.0009	M	0.62088	1.915	0.09310	N	1	P	0.51449	0.945	P	0.61658	0.892	T	0.50964	-0.8765	10	0.87932	D	0	.	2.8902	0.05674	0.1621:0.0:0.3634:0.4745	.	219	Q8NH83	OR4A5_HUMAN	V	219	ENSP00000367664:L219V	ENSP00000367664:L219V	L	-	1	2	OR4A5	51268317	0.000000	0.05858	0.276000	0.24689	0.025000	0.11179	-0.966000	0.03825	-0.043000	0.13513	0.162000	0.16502	CTA	OR4A5	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.438	OR4A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4A5	HGNC	protein_coding	OTTHUMT00000391399.1	G	NM_001005272		51411741	-1	no_errors	ENST00000319760	ensembl	human	known	70_37	missense	SNP	0.067	C
OR4A5	81318	genome.wustl.edu	37	11	51412303	51412303	+	Silent	SNP	G	G	C	rs138059000		TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr11:51412303G>C	ENST00000319760.6	-	1	145	c.93C>G	c.(91-93)ctC>ctG	p.L31L		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	31						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				CCAAGTATGTGAGTAAAAACA	0.428																																																	0													53.0	50.0	51.0					11																	51412303		2201	4296	6497	SO:0001819	synonymous_variant	81318			AB065506	CCDS73289.1	11p11.12	2012-08-09			ENSG00000221840	ENSG00000221840		"""GPCR / Class A : Olfactory receptors"""	15162	protein-coding gene	gene with protein product							Standard	NM_001005272		Approved		uc001nhi.2	Q8NH83	OTTHUMG00000166764	ENST00000319760.6:c.93C>G	11.37:g.51412303G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6IF84	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L31	ENST00000319760.6	37	c.93	CCDS31497.1	11																																																																																			OR4A5	-	prints_GPCR_Rhodpsn		0.428	OR4A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4A5	HGNC	protein_coding	OTTHUMT00000391399.1	G	NM_001005272		51412303	-1	no_errors	ENST00000319760	ensembl	human	known	70_37	silent	SNP	0.007	C
OR9G4	283189	genome.wustl.edu	37	11	56510605	56510605	+	Missense_Mutation	SNP	G	G	T			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr11:56510605G>T	ENST00000302957.3	-	1	682	c.683C>A	c.(682-684)gCt>gAt	p.A228D		NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G, member 4	228						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						AATCAGGATAGCAAGAATGCT	0.488																																																	0													112.0	101.0	105.0					11																	56510605		2201	4296	6497	SO:0001583	missense	283189			BK004400	CCDS31537.1	11q11	2012-08-09			ENSG00000172457	ENSG00000172457		"""GPCR / Class A : Olfactory receptors"""	15322	protein-coding gene	gene with protein product							Standard	NM_001005284		Approved		uc010rjo.2	Q8NGQ1	OTTHUMG00000166932	ENST00000302957.3:c.683C>A	11.37:g.56510605G>T	ENSP00000307515:p.Ala228Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6IF62|Q96RA9	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A228D	ENST00000302957.3	37	c.683	CCDS31537.1	11	.	.	.	.	.	.	.	.	.	.	G	14.35	2.508455	0.44660	.	.	ENSG00000172457	ENST00000302957	T	0.38401	1.14	5.07	0.695	0.18070	GPCR, rhodopsin-like superfamily (1);	0.190564	0.25593	N	0.029606	T	0.36880	0.0983	L	0.51422	1.61	0.18873	N	0.999982	D	0.53885	0.963	P	0.51101	0.659	T	0.18493	-1.0335	10	0.72032	D	0.01	-5.9654	6.8765	0.24149	0.5936:0.0:0.4064:0.0	.	228	Q8NGQ1	OR9G4_HUMAN	D	228	ENSP00000307515:A228D	ENSP00000307515:A228D	A	-	2	0	OR9G4	56267181	0.000000	0.05858	0.892000	0.35008	0.535000	0.34838	0.423000	0.21313	0.274000	0.22072	0.643000	0.83706	GCT	OR9G4	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.488	OR9G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR9G4	HGNC	protein_coding	OTTHUMT00000391945.1	G	NM_001005284		56510605	-1	no_errors	ENST00000302957	ensembl	human	known	70_37	missense	SNP	0.162	T
PCDHGA1	56114	genome.wustl.edu	37	5	140711085	140711085	+	Silent	SNP	G	G	A	rs115965295	byFrequency	TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr5:140711085G>A	ENST00000517417.1	+	1	834	c.834G>A	c.(832-834)acG>acA	p.T278T	AC005618.6_ENST00000606901.1_lincRNA|PCDHGA1_ENST00000378105.3_Silent_p.T278T	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	278	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGAAGTAACGTACTCCTTTC	0.433													G|||	3	0.000599042	0.0023	0.0	5008	,	,		22090	0.0		0.0	False		,,,				2504	0.0																0								G	,	0,4406		0,0,2203	66.0	67.0	67.0		834,834	-1.7	0.9	5	dbSNP_132	67	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	PCDHGA1	NM_018912.2,NM_031993.1	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	278/932,278/824	140711085	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	56114			AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"""Cadherins / Protocadherins : Clustered"""	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.834G>A	5.37:g.140711085G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q2M273|Q9Y5D6	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.T278	ENST00000517417.1	37	c.834	CCDS54922.1	5																																																																																			PCDHGA1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.433	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDHGA1	HGNC	protein_coding	OTTHUMT00000374737.1	G	NM_018912		140711085	+1	no_errors	ENST00000517417	ensembl	human	known	70_37	silent	SNP	0.963	A
PCDHGB6	56100	genome.wustl.edu	37	5	140789450	140789450	+	Missense_Mutation	SNP	C	C	T	rs530193346		TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr5:140789450C>T	ENST00000520790.1	+	1	1681	c.1681C>T	c.(1681-1683)Cgg>Tgg	p.R561W	PCDHGA9_ENST00000573521.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6	561	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAACGCACCGCGGGTGCTGTA	0.657																																																	0													24.0	32.0	29.0					5																	140789450		2087	4221	6308	SO:0001583	missense	56100			AF152522	CCDS54929.1, CCDS75342.1	5q31	2010-01-26				ENSG00000253305		"""Cadherins / Protocadherins : Clustered"""	8713	other	protocadherin		606303				10380929	Standard	NM_018926		Approved	PCDH-GAMMA-B6		Q9Y5F9		ENST00000520790.1:c.1681C>T	5.37:g.140789450C>T	ENSP00000428603:p.Arg561Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9Y5C5	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R561W	ENST00000520790.1	37	c.1681	CCDS54929.1	5	.	.	.	.	.	.	.	.	.	.	c	14.82	2.648098	0.47258	.	.	ENSG00000253305	ENST00000520790	T	0.01767	4.65	5.36	-2.17	0.07059	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.07369	0.0186	M	0.75264	2.295	0.09310	N	1	D;D	0.89917	1.0;1.0	P;D	0.64042	0.836;0.921	T	0.06006	-1.0851	9	0.66056	D	0.02	.	11.6764	0.51432	0.2165:0.6285:0.155:0.0	.	561;561	Q9Y5F9;Q9Y5F9-2	PCDGI_HUMAN;.	W	561	ENSP00000428603:R561W	ENSP00000428603:R561W	R	+	1	2	PCDHGB6	140769634	0.000000	0.05858	0.086000	0.20670	0.760000	0.43138	-0.793000	0.04589	-0.314000	0.08716	0.462000	0.41574	CGG	PCDHGB6	-	superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin		0.657	PCDHGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB6	HGNC	protein_coding	OTTHUMT00000374746.1	C	NM_018926		140789450	+1	no_errors	ENST00000520790	ensembl	human	known	70_37	missense	SNP	0.000	T
PGM5P2	595135	genome.wustl.edu	37	9	69113626	69113626	+	RNA	SNP	C	C	T			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr9:69113626C>T	ENST00000591037.1	-	0	1019					NR_002836.2				phosphoglucomutase 5 pseudogene 2																		TCCATATTCTCCTCCTTTCAT	0.458																																																	0																																												595135			BC007887, BC025351		9q12	2014-01-23			ENSG00000227558	ENSG00000277778			18965	pseudogene	pseudogene						12421752, 15233989	Standard	NR_002836		Approved		uc004aff.4		OTTHUMG00000013322		9.37:g.69113626C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000591037.1	37	NULL		9																																																																																			PGM5P2	-	-		0.458	PGM5P2-002	KNOWN	basic	processed_transcript	PGM5P2	HGNC	pseudogene	OTTHUMT00000460890.1	C	NR_002836		69113626	-1	no_errors	ENST00000591037	ensembl	human	known	70_37	rna	SNP	1.000	T
PIK3CA	5290	genome.wustl.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	899	Substitution - Missense(899)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)											61.0	60.0	60.0					3																	178936091		1813	4072	5885	SO:0001583	missense	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E545K	ENST00000263967.3	37	c.1633	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	G			178936091	+1	no_errors	ENST00000263967	ensembl	human	known	70_37	missense	SNP	1.000	A
PKD1L1	168507	genome.wustl.edu	37	7	47879139	47879139	+	Missense_Mutation	SNP	A	A	G			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr7:47879139A>G	ENST00000289672.2	-	36	5724	c.5674T>C	c.(5674-5676)Ttc>Ctc	p.F1892L		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1892	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GCAGGGAAGAACCAGCCCTGT	0.652																																																	0													44.0	32.0	36.0					7																	47879139		2203	4300	6503	SO:0001583	missense	168507			AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.5674T>C	7.37:g.47879139A>G	ENSP00000289672:p.Phe1892Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6UWK1	Missense_Mutation	SNP	pfam_PKD/REJ-like,pfam_PKD1_2_channel,pfam_PKD_dom,pfam_LipOase_LH2,superfamily_Lipase_LipOase,superfamily_PKD_dom,smart_PKD/Chitinase_dom,smart_LipOase_LH2,pfscan_PKD_dom,pfscan_LipOase_LH2,pfscan_REJ-like	p.F1892L	ENST00000289672.2	37	c.5674	CCDS34633.1	7	.	.	.	.	.	.	.	.	.	.	A	8.228	0.803944	0.16467	.	.	ENSG00000158683	ENST00000289672	T	0.63096	-0.02	5.09	1.08	0.20341	Lipoxygenase, LH2 (3);Lipase/lipooxygenase, PLAT/LH2 (1);	0.647706	0.14155	N	0.337799	T	0.37544	0.1007	N	0.17278	0.47	0.30843	N	0.735489	B	0.06786	0.001	B	0.04013	0.001	T	0.25572	-1.0128	10	0.18710	T	0.47	-27.2768	4.4579	0.11652	0.6271:0.1667:0.2061:0.0	.	1892	Q8TDX9	PK1L1_HUMAN	L	1892	ENSP00000289672:F1892L	ENSP00000289672:F1892L	F	-	1	0	PKD1L1	47845664	0.997000	0.39634	1.000000	0.80357	0.164000	0.22412	0.226000	0.17776	0.347000	0.23924	0.533000	0.62120	TTC	PKD1L1	-	pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2		0.652	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKD1L1	HGNC	protein_coding	OTTHUMT00000340974.1	A	NM_138295		47879139	-1	no_errors	ENST00000289672	ensembl	human	known	70_37	missense	SNP	1.000	G
PLG	5340	genome.wustl.edu	37	6	161143598	161143598	+	Splice_Site	SNP	G	G	A			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr6:161143598G>A	ENST00000308192.9	+	10	1318	c.1255G>A	c.(1255-1257)Gct>Act	p.A419T		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	419	Kringle 4. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fibrinolysis (GO:0051918)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of fibrinolysis (GO:0051919)|tissue remodeling (GO:0048771)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	apolipoprotein binding (GO:0034185)|protein domain specific binding (GO:0019904)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Aprotinin(DB06692)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	CTACCCAAATGCGTATGTCTT	0.473																																																	0													110.0	110.0	110.0					6																	161143598		2203	4300	6503	SO:0001630	splice_region_variant	5340			M74220	CCDS5279.1, CCDS55074.1	6q26	2012-10-02			ENSG00000122194	ENSG00000122194			9071	protein-coding gene	gene with protein product		173350					Standard	NM_000301		Approved		uc003qtm.4	P00747	OTTHUMG00000015957	ENST00000308192.9:c.1256+1G>A	6.37:g.161143598G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q15146|Q5TEH4|Q6PA00	Missense_Mutation	SNP	pfam_Kringle,pfam_Peptidase_S1_S6,pfam_PAN-1_domain,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1_S6,pirsf_Pept_S1A_plasmin,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.A419T	ENST00000308192.9	37	c.1255	CCDS5279.1	6	.	.	.	.	.	.	.	.	.	.	G	20.9	4.061465	0.76187	.	.	ENSG00000122194	ENST00000308192	T	0.67523	-0.27	5.18	5.18	0.71444	Kringle (5);Kringle-like fold (1);	0.000000	0.39020	U	0.001490	T	0.80752	0.4683	M	0.85777	2.775	0.80722	D	1	D	0.67145	0.996	D	0.72625	0.978	T	0.82748	-0.0304	10	0.52906	T	0.07	.	17.4468	0.87580	0.0:0.0:1.0:0.0	.	419	P00747	PLMN_HUMAN	T	419	ENSP00000308938:A419T	ENSP00000308938:A419T	A	+	1	0	PLG	161063588	1.000000	0.71417	0.998000	0.56505	0.484000	0.33280	7.875000	0.87205	2.413000	0.81919	0.467000	0.42956	GCT	PLG	-	pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pirsf_Pept_S1A_plasmin,pfscan_Kringle		0.473	PLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLG	HGNC	protein_coding	OTTHUMT00000042959.2	G	NM_000301	Missense_Mutation	161143598	+1	no_errors	ENST00000308192	ensembl	human	known	70_37	missense	SNP	1.000	A
PNLIPRP3	119548	genome.wustl.edu	37	10	118231381	118231381	+	Missense_Mutation	SNP	G	G	T			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr10:118231381G>T	ENST00000369230.3	+	10	1308	c.1162G>T	c.(1162-1164)Gcc>Tcc	p.A388S		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	388	PLAT.				lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	triglyceride lipase activity (GO:0004806)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		TGGGGAGTTTGCCATTGTCAG	0.488																																																	0													117.0	122.0	120.0					10																	118231381		2203	4300	6503	SO:0001583	missense	119548			BC015840	CCDS31292.1	10q26.12	2014-03-14			ENSG00000203837	ENSG00000203837	3.1.1.3		23492	protein-coding gene	gene with protein product							Standard	NM_001011709		Approved		uc001lcl.4	Q17RR3	OTTHUMG00000019100	ENST00000369230.3:c.1162G>T	10.37:g.118231381G>T	ENSP00000358232:p.Ala388Ser	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Lipase_N,pfam_LipOase_LH2,superfamily_Lipase_LipOase,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase,prints_Lipase_panc	p.A388S	ENST00000369230.3	37	c.1162	CCDS31292.1	10	.	.	.	.	.	.	.	.	.	.	G	10.60	1.396193	0.25205	.	.	ENSG00000203837	ENST00000369230	T	0.70749	-0.51	4.18	1.1	0.20463	Lipoxygenase, LH2 (2);Lipase/lipooxygenase, PLAT/LH2 (1);	2.332490	0.02559	N	0.096558	T	0.58047	0.2095	N	0.22421	0.69	0.09310	N	1	B	0.13145	0.007	B	0.19666	0.026	T	0.43327	-0.9398	10	0.44086	T	0.13	.	5.3634	0.16101	0.1879:0.169:0.6431:0.0	.	388	Q17RR3	LIPR3_HUMAN	S	388	ENSP00000358232:A388S	ENSP00000358232:A388S	A	+	1	0	PNLIPRP3	118221371	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-0.121000	0.10643	0.106000	0.17784	0.591000	0.81541	GCC	PNLIPRP3	-	pfam_LipOase_LH2,superfamily_Lipase_LipOase,pirsf_Lipoprotein_lipase_LIPH		0.488	PNLIPRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PNLIPRP3	HGNC	protein_coding	OTTHUMT00000050520.1	G	XM_058404		118231381	+1	no_errors	ENST00000369230	ensembl	human	known	70_37	missense	SNP	0.000	T
POLE	5426	genome.wustl.edu	37	12	133219510	133219510	+	Missense_Mutation	SNP	C	C	A			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr12:133219510C>A	ENST00000320574.5	-	36	4667	c.4624G>T	c.(4624-4626)Ggc>Tgc	p.G1542C	POLE_ENST00000535270.1_Missense_Mutation_p.G1515C|POLE_ENST00000434528.3_5'Flank	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1542					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	AGCTCAGGGCCCACCTTCTCC	0.622								DNA polymerases (catalytic subunits)																																									0													69.0	67.0	67.0					12																	133219510		2203	4300	6503	SO:0001583	missense	5426				CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.4624G>T	12.37:g.133219510C>A	ENSP00000322570:p.Gly1542Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q13533|Q86VH9	Missense_Mutation	SNP	pfam_DNA_pol_e_suA_C,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_3'-5'_exonuclease_PolB-like,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B	p.G1553C	ENST00000320574.5	37	c.4657	CCDS9278.1	12	.	.	.	.	.	.	.	.	.	.	C	16.24	3.066919	0.55539	.	.	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270	T;T;T	0.22945	1.93;1.93;1.93	5.82	5.82	0.92795	DNA polymerase epsilon, catalytic subunit A, C-terminal (1);	0.257811	0.45361	D	0.000364	T	0.29850	0.0746	L	0.47190	1.495	0.36333	D	0.858984	B	0.10296	0.003	B	0.18263	0.021	T	0.14924	-1.0455	10	0.62326	D	0.03	.	20.1027	0.97880	0.0:1.0:0.0:0.0	.	1542	Q07864	DPOE1_HUMAN	C	1542;1553;1515	ENSP00000322570:G1542C;ENSP00000406383:G1553C;ENSP00000445753:G1515C	ENSP00000322570:G1542C	G	-	1	0	POLE	131729583	0.997000	0.39634	0.805000	0.32314	0.931000	0.56810	3.657000	0.54474	2.756000	0.94617	0.655000	0.94253	GGC	POLE	-	pfam_DNA_pol_e_suA_C		0.622	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLE	HGNC	protein_coding	OTTHUMT00000397689.2	C	NM_006231		133219510	-1	no_errors	ENST00000455752	ensembl	human	known	70_37	missense	SNP	0.997	A
PREX1	57580	genome.wustl.edu	37	20	47307544	47307544	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr20:47307544G>A	ENST00000371941.3	-	9	1149	c.1127C>T	c.(1126-1128)aCg>aTg	p.T376M	PREX1_ENST00000396220.1_Missense_Mutation_p.T376M	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	376	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			CTCCTCTGCCGTCTTGGCCAT	0.597																																																	0													171.0	130.0	144.0					20																	47307544		2203	4300	6503	SO:0001583	missense	57580			AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.1127C>T	20.37:g.47307544G>A	ENSP00000361009:p.Thr376Met	Somatic		WXS	Illumina HiSeq	Phase_IV	E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	pfam_DH-domain,pfam_DEP_dom,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.T376M	ENST00000371941.3	37	c.1127	CCDS13410.1	20	.	.	.	.	.	.	.	.	.	.	G	18.01	3.526943	0.64860	.	.	ENSG00000124126	ENST00000371941;ENST00000396220	D;D	0.90504	-2.68;-2.68	5.32	5.32	0.75619	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.56097	U	0.000030	D	0.95686	0.8597	M	0.83774	2.66	0.54753	D	0.99998	D	0.89917	1.0	D	0.72338	0.977	D	0.96097	0.9066	10	0.87932	D	0	.	19.0098	0.92868	0.0:0.0:1.0:0.0	.	376	Q8TCU6	PREX1_HUMAN	M	376	ENSP00000361009:T376M;ENSP00000379522:T376M	ENSP00000361009:T376M	T	-	2	0	PREX1	46740951	1.000000	0.71417	0.968000	0.41197	0.318000	0.28184	5.402000	0.66332	2.491000	0.84063	0.655000	0.94253	ACG	PREX1	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.597	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PREX1	HGNC	protein_coding	OTTHUMT00000079623.1	G	NM_020820		47307544	-1	no_errors	ENST00000371941	ensembl	human	known	70_37	missense	SNP	0.999	A
PTEN	5728	genome.wustl.edu	37	10	89717672	89717672	+	Nonsense_Mutation	SNP	C	C	T	rs121909219		TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr10:89717672C>T	ENST00000371953.3	+	7	2054	c.697C>T	c.(697-699)Cga>Tga	p.R233*	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	233	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.R233*(77)|p.0?(37)|p.R55fs*1(5)|p.R233fs*10(3)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.?(1)|p.R233fs*12(1)|p.R233fs*20(1)|p.R233fs*25(1)|p.R233fs*23(1)|p.R233R(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AGGACCCACACGACGGGAAGA	0.423	R233*(HEC59_ENDOMETRIUM)|R233*(JHUEM1_ENDOMETRIUM)|R233*(NCIH1155_LUNG)|R233*(SF295_CENTRAL_NERVOUS_SYSTEM)|R233*(SW1783_CENTRAL_NERVOUS_SYSTEM)	31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																													yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	phosphatase and tensin homolog gene		"""L, E, M, O"""	133	Substitution - Nonsense(77)|Whole gene deletion(37)|Deletion - Frameshift(11)|Complex - frameshift(3)|Insertion - Frameshift(2)|Deletion - In frame(1)|Unknown(1)|Substitution - coding silent(1)	endometrium(48)|central_nervous_system(21)|prostate(17)|haematopoietic_and_lymphoid_tissue(10)|lung(9)|large_intestine(6)|skin(6)|ovary(5)|cervix(3)|soft_tissue(3)|breast(3)|urinary_tract(2)	GRCh37	CM971277	PTEN	M	rs121909219						155.0	133.0	141.0					10																	89717672		2203	4300	6503	SO:0001587	stop_gained	5728	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.697C>T	10.37:g.89717672C>T	ENSP00000361021:p.Arg233*	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R904|F2YHV0|O00633|O02679|Q6ICT7	Nonsense_Mutation	SNP	pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.R233*	ENST00000371953.3	37	c.697	CCDS31238.1	10	.	.	.	.	.	.	.	.	.	.	C	48	14.428311	0.99795	.	.	ENSG00000171862	ENST00000371953	.	.	.	5.15	0.533	0.17121	.	0.063428	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-6.2458	14.4841	0.67603	0.5413:0.4587:0.0:0.0	.	.	.	.	X	233	.	.	R	+	1	2	PTEN	89707652	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	1.280000	0.33202	0.512000	0.28257	0.585000	0.79938	CGA	PTEN	-	pfam_Tensin_phosphatase_C2-dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tensin_phosphatase_C2-dom		0.423	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTEN	HGNC	protein_coding	OTTHUMT00000049241.1	C	NM_000314		89717672	+1	no_errors	ENST00000371953	ensembl	human	known	70_37	nonsense	SNP	0.984	T
AARSD1	80755	genome.wustl.edu	37	17	41108566	41108566	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr17:41108566C>T	ENST00000427569.2	-	5	436	c.401G>A	c.(400-402)aGa>aAa	p.R134K	PTGES3L-AARSD1_ENST00000360221.4_Missense_Mutation_p.R247K|PTGES3L-AARSD1_ENST00000409103.1_Missense_Mutation_p.R217K|PTGES3L-AARSD1_ENST00000421990.2_Missense_Mutation_p.R308K|AARSD1_ENST00000416949.1_Intron|PTGES3L-AARSD1_ENST00000409399.1_Missense_Mutation_p.R308K	NM_001261434.1	NP_001248363.1	Q9BTE6	AASD1_HUMAN	alanyl-tRNA synthetase domain containing 1	134					alanyl-tRNA aminoacylation (GO:0006419)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	alanine-tRNA ligase activity (GO:0004813)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|Ser-tRNA(Ala) hydrolase activity (GO:0002196)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|skin(1)	17		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		ACTCCGAAATCTCCCTAACTC	0.458																																																	0													63.0	62.0	62.0					17																	41108566		2203	4300	6503	SO:0001583	missense	100885850			BC004172	CCDS11447.1, CCDS45691.1, CCDS58552.1	17q21.31	2012-10-05			ENSG00000266967	ENSG00000266967			28417	protein-coding gene	gene with protein product		613212					Standard	NM_001261434		Approved	MGC2744		Q9BTE6	OTTHUMG00000153515	ENST00000427569.2:c.401G>A	17.37:g.41108566C>T	ENSP00000400870:p.Arg134Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DI73	Missense_Mutation	SNP	pfam_tRNA_SAD,pfam_CS_domain,pfam_Ala-tRNA-synth_IIc_N,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_HSP20-like_chaperone,smart_tRNA_SAD,pfscan_CS-like_domain,pfscan_Ala-tRNA-synth_IIc_core	p.R308K	ENST00000427569.2	37	c.923	CCDS58552.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.17|13.17	2.157528|2.157528	0.38119|0.38119	.|.	.|.	ENSG00000108825|ENSG00000108825	ENST00000441280;ENST00000430739|ENST00000360221;ENST00000409399;ENST00000421990;ENST00000427569;ENST00000409103	.|T;T	.|0.44881	.|0.91;0.91	5.36|5.36	3.34|3.34	0.38264|0.38264	.|Alanyl-tRNA synthetase, class IIc, core domain (1);Threonyl/alanyl tRNA synthetase, class II-like, putative editing domain (1);	.|0.225469	.|0.35235	.|N	.|0.003358	T|T	0.25158|0.25158	0.0611|0.0611	N|N	0.17248|0.17248	0.465|0.465	.|.	.|.	.|.	.|B;B;B;B;B	.|0.13145	.|0.007;0.001;0.0;0.0;0.0	.|B;B;B;B;B	.|0.17722	.|0.019;0.004;0.002;0.002;0.001	T|T	0.26052|0.26052	-1.0114|-1.0114	4|9	.|0.18276	.|T	.|0.48	-8.0649|-8.0649	11.5775|11.5775	0.50873|0.50873	0.0:0.8539:0.0:0.1461|0.0:0.8539:0.0:0.1461	.|.	.|247;308;217;265;134	.|Q9BTE6-2;B4DI73;C9J5N1;B3KSP9;Q9BTE6	.|.;.;.;.;AASD1_HUMAN	N|K	140|247;308;308;134;217	.|ENSP00000386621:R308K;ENSP00000409924:R308K	.|ENSP00000353355:R247K	D|R	-|-	1|2	0|0	AARSD1|AARSD1	38362092|38362092	0.926000|0.926000	0.31397|0.31397	0.976000|0.976000	0.42696|0.42696	0.945000|0.945000	0.59286|0.59286	1.994000|1.994000	0.40757|0.40757	1.222000|1.222000	0.43521|0.43521	0.555000|0.555000	0.69702|0.69702	GAT|AGA	PTGES3L-AARSD1	-	superfamily_Thr/Ala-tRNA-synth_IIc_edit,pfscan_Ala-tRNA-synth_IIc_core		0.458	AARSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGES3L-AARSD1	HGNC	protein_coding	OTTHUMT00000467729.1	C	NM_001261434		41108566	-1	no_errors	ENST00000409399	ensembl	human	known	70_37	missense	SNP	0.304	T
PTPRT	11122	genome.wustl.edu	37	20	40714415	40714415	+	Missense_Mutation	SNP	C	C	A			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr20:40714415C>A	ENST00000373187.1	-	28	3924	c.3925G>T	c.(3925-3927)Gac>Tac	p.D1309Y	PTPRT_ENST00000356100.2_Missense_Mutation_p.D1318Y|PTPRT_ENST00000373201.1_Missense_Mutation_p.D1299Y|PTPRT_ENST00000373184.1_Missense_Mutation_p.D1319Y|PTPRT_ENST00000373193.3_Missense_Mutation_p.D1312Y|PTPRT_ENST00000373198.4_Missense_Mutation_p.D1328Y|PTPRT_ENST00000373190.1_Missense_Mutation_p.D1308Y			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1309	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				ATGTCCTCGTCGATGTCTGCG	0.557																																																	0													87.0	90.0	89.0					20																	40714415		1984	4164	6148	SO:0001583	missense	11122			AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.3925G>T	20.37:g.40714415C>A	ENSP00000362283:p.Asp1309Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.D1331Y	ENST00000373187.1	37	c.3991	CCDS42874.1	20	.	.	.	.	.	.	.	.	.	.	C	26.5	4.744545	0.89663	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	D;D;D;D;D;D;D	0.83837	-1.77;-1.77;-1.77;-1.77;-1.77;-1.77;-1.77	5.31	5.31	0.75309	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.110757	0.64402	D	0.000013	D	0.88254	0.6387	L	0.42245	1.32	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.69479	0.964;0.963	D	0.88934	0.3375	10	0.87932	D	0	.	19.1694	0.93570	0.0:1.0:0.0:0.0	.	1331;1309	O14522-1;O14522	.;PTPRT_HUMAN	Y	1308;1309;1312;1318;1331;1319;1299	ENSP00000362286:D1308Y;ENSP00000362283:D1309Y;ENSP00000362289:D1312Y;ENSP00000348408:D1318Y;ENSP00000362294:D1331Y;ENSP00000362280:D1319Y;ENSP00000362297:D1299Y	ENSP00000348408:D1318Y	D	-	1	0	PTPRT	40147829	1.000000	0.71417	0.839000	0.33178	0.761000	0.43186	7.570000	0.82390	2.765000	0.95021	0.655000	0.94253	GAC	PTPRT	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt		0.557	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRT	HGNC	protein_coding	OTTHUMT00000080315.1	C			40714415	-1	no_errors	ENST00000373198	ensembl	human	known	70_37	missense	SNP	0.998	A
RBPJL	11317	genome.wustl.edu	37	20	43944934	43944934	+	Silent	SNP	G	G	A			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr20:43944934G>A	ENST00000343694.3	+	10	1200	c.1128G>A	c.(1126-1128)gcG>gcA	p.A376A	RBPJL_ENST00000372741.3_Silent_p.A376A|RBPJL_ENST00000464504.1_3'UTR|RBPJL_ENST00000372743.1_Silent_p.A376A	NM_001281448.1|NM_001281449.1|NM_014276.2	NP_001268377.1|NP_001268378.1|NP_055091.2	Q9UBG7	RBPJL_HUMAN	recombination signal binding protein for immunoglobulin kappa J region-like	376					positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Myeloproliferative disorder(115;0.0122)				CCAGCCTGGCGTGTACCCTGG	0.647																																																	0													65.0	59.0	61.0					20																	43944934		2203	4300	6503	SO:0001819	synonymous_variant	11317			AB024964	CCDS13349.1, CCDS63283.1, CCDS63284.1	20q13.12	2013-10-18	2007-02-26	2007-02-26	ENSG00000124232	ENSG00000124232			13761	protein-coding gene	gene with protein product			"""recombining binding protein suppressor of hairless (Drosophila)-like"""	RBPSUHL		9929984	Standard	NM_014276		Approved	RBP-L, SUH, SUHL	uc002xns.3	Q9UBG7	OTTHUMG00000033055	ENST00000343694.3:c.1128G>A	20.37:g.43944934G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	O95723|Q5QPU9|Q5QPV0|Q9ULV9	Silent	SNP	pfam_Beta-trefoil_DNA-bd_dom,pfam_LAG1_DNA-bd,superfamily_Beta-trefoil_DNA-bd_dom,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set	p.A376	ENST00000343694.3	37	c.1128	CCDS13349.1	20																																																																																			RBPJL	-	superfamily_Ig_E-set		0.647	RBPJL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RBPJL	HGNC	protein_coding	OTTHUMT00000080391.1	G	NM_014276		43944934	+1	no_errors	ENST00000343694	ensembl	human	known	70_37	silent	SNP	0.601	A
RC3H1	149041	genome.wustl.edu	37	1	173915654	173915654	+	Missense_Mutation	SNP	T	T	A			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr1:173915654T>A	ENST00000367696.2	-	17	3272	c.2921A>T	c.(2920-2922)aAc>aTc	p.N974I	RC3H1_ENST00000367694.2_Missense_Mutation_p.N974I|RC3H1_ENST00000258349.4_Missense_Mutation_p.N974I			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	974					B cell homeostasis (GO:0001782)|cytoplasmic mRNA processing body assembly (GO:0033962)|lymph node development (GO:0048535)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of germinal center formation (GO:0002635)|negative regulation of T-helper cell differentiation (GO:0045623)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|posttranscriptional regulation of gene expression (GO:0010608)|protein ubiquitination (GO:0016567)|regulation of germinal center formation (GO:0002634)|regulation of mRNA stability (GO:0043488)|regulation of T cell receptor signaling pathway (GO:0050856)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						AATCTGATGGTTCAATTGCTG	0.438																																																	0													156.0	141.0	146.0					1																	173915654		2203	4300	6503	SO:0001583	missense	149041			AK093501	CCDS30940.1, CCDS72987.1	1q25.1	2013-01-18	2010-09-15		ENSG00000135870	ENSG00000135870		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, CCCH-type domain containing"""	29434	protein-coding gene	gene with protein product	"""KIAA2025 protein"""	609424	"""ring finger and CCCH-type zinc finger domains 1"""			15917799	Standard	XM_005244918		Approved	KIAA2025, roquin, RP5-1198E17.5, RNF198	uc001gju.4	Q5TC82	OTTHUMG00000037275	ENST00000367696.2:c.2921A>T	1.37:g.173915654T>A	ENSP00000356669:p.Asn974Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KVK1|Q5W180|Q5W181|Q8IVE6|Q8N9V1	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_RING,smart_Znf_CCCH,pfscan_Znf_RING	p.N974I	ENST00000367696.2	37	c.2921	CCDS30940.1	1	.	.	.	.	.	.	.	.	.	.	T	25.6	4.652574	0.88056	.	.	ENSG00000135870	ENST00000367696;ENST00000258349;ENST00000367694	T;T;T	0.51574	0.7;0.7;0.78	5.5	5.5	0.81552	.	0.042809	0.85682	D	0.000000	T	0.44726	0.1307	L	0.39898	1.24	0.53688	D	0.999979	P;P;D;P	0.53885	0.938;0.938;0.963;0.938	P;P;P;P	0.54759	0.58;0.58;0.76;0.58	T	0.50311	-0.8843	10	0.87932	D	0	-16.8557	15.6207	0.76805	0.0:0.0:0.0:1.0	.	974;974;974;974	B9EGU6;B7ZMB3;Q5TC82-2;Q5TC82	.;.;.;RC3H1_HUMAN	I	974	ENSP00000356669:N974I;ENSP00000258349:N974I;ENSP00000356667:N974I	ENSP00000258349:N974I	N	-	2	0	RC3H1	172182277	1.000000	0.71417	0.997000	0.53966	0.776000	0.43924	7.698000	0.84413	2.092000	0.63282	0.533000	0.62120	AAC	RC3H1	-	NULL		0.438	RC3H1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RC3H1	HGNC	protein_coding	OTTHUMT00000090733.2	T	NM_172071		173915654	-1	no_errors	ENST00000258349	ensembl	human	known	70_37	missense	SNP	1.000	A
RIMS2	9699	genome.wustl.edu	37	8	104513213	104513213	+	Silent	SNP	G	G	A			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr8:104513213G>A	ENST00000406091.3	+	1	99	c.99G>A	c.(97-99)acG>acA	p.T33T	RP11-1C8.4_ENST00000517376.1_RNA|RP11-1C8.4_ENST00000523422.1_RNA	NM_001100117.2	NP_001093587.1	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	33	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GCCACCTCACGGAGGAGGAGA	0.627										HNSCC(12;0.0054)																																							0													37.0	42.0	40.0					8																	104513213		1929	4121	6050	SO:0001819	synonymous_variant	9699			AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000406091.3:c.99G>A	8.37:g.104513213G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Silent	SNP	pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ,pfscan_Rab-bd_domain,pfscan_Znf_FYVE-rel	p.T33	ENST00000406091.3	37	c.99	CCDS55269.1	8																																																																																			RIMS2	-	superfamily_Znf_FYVE_PHD,pfscan_Rab-bd_domain		0.627	RIMS2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMS2	HGNC	protein_coding		G	NM_001100117		104513213	+1	no_errors	ENST00000406091	ensembl	human	known	70_37	silent	SNP	1.000	A
RNF43	54894	genome.wustl.edu	37	17	56435253	56435253	+	Silent	SNP	G	G	A	rs146366849	byFrequency	TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr17:56435253G>A	ENST00000584437.1	-	8	3839	c.1884C>T	c.(1882-1884)gaC>gaT	p.D628D	RNF43_ENST00000583753.1_Silent_p.D587D|RNF43_ENST00000577716.1_Silent_p.D628D|RNF43_ENST00000577625.1_Silent_p.D501D|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000407977.2_Silent_p.D628D|RNF43_ENST00000581868.1_Silent_p.D501D|RNF43_ENST00000500597.2_Silent_p.D587D			Q68DV7	RNF43_HUMAN	ring finger protein 43	628	Pro-rich.				negative regulation of Wnt signaling pathway (GO:0030178)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|stem cell proliferation (GO:0072089)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGCTGGAGGCGTCAACTGGGC	0.632													T|||	3	0.000599042	0.0023	0.0	5008	,	,		14944	0.0		0.0	False		,,,				2504	0.0																0								T		8,4396		0,8,2194	61.0	71.0	67.0		1884	0.1	0.0	17	dbSNP_134	67	0,8590		0,0,4295	no	coding-synonymous	RNF43	NM_017763.4		0,8,6489	AA,AG,GG		0.0,0.1817,0.0616		628/784	56435253	8,12986	2202	4295	6497	SO:0001819	synonymous_variant	54894				CCDS11607.1	17q23.2	2013-01-09						"""RING-type (C3HC4) zinc fingers"""	18505	protein-coding gene	gene with protein product		612482					Standard	NM_017763		Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7		ENST00000584437.1:c.1884C>T	17.37:g.56435253G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	Silent	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.D628	ENST00000584437.1	37	c.1884	CCDS11607.1	17																																																																																			RNF43	-	NULL		0.632	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RNF43	HGNC	protein_coding	OTTHUMT00000444713.1	G	NM_017763		56435253	-1	no_errors	ENST00000407977	ensembl	human	known	70_37	silent	SNP	0.003	A
RP1L1	94137	genome.wustl.edu	37	8	10465315	10465315	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr8:10465315G>A	ENST00000382483.3	-	4	6516	c.6293C>T	c.(6292-6294)tCa>tTa	p.S2098L		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	2178	25 X 16 AA approximate tandem repeats of [ED]-[AT]-[PQ]-[ED]-[AVT]-E-[GKE]-[ED]- [AMT]-Q-[EPK]-[EAT]-[TSELP]-[EG]- [EGSQDI]-[AVIE].				cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TACACCTTCTGATTCTGGCTG	0.622																																																	0													151.0	166.0	161.0					8																	10465315		1944	4126	6070	SO:0001583	missense	94137			AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.6293C>T	8.37:g.10465315G>A	ENSP00000371923:p.Ser2098Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	p.S2098L	ENST00000382483.3	37	c.6293	CCDS43708.1	8	.	.	.	.	.	.	.	.	.	.	-	7.473	0.647106	0.14516	.	.	ENSG00000183638	ENST00000382483	T	0.08193	3.12	1.74	-3.47	0.04753	.	.	.	.	.	T	0.03136	0.0092	N	0.08118	0	0.09310	N	1	B	0.22604	0.072	B	0.14578	0.011	T	0.44298	-0.9337	9	0.25751	T	0.34	.	4.1428	0.10201	0.0:0.312:0.2795:0.4086	.	2098	A6NKC6	.	L	2098	ENSP00000371923:S2098L	ENSP00000371923:S2098L	S	-	2	0	RP1L1	10502725	0.005000	0.15991	0.001000	0.08648	0.007000	0.05969	0.923000	0.28757	-0.579000	0.05952	0.484000	0.47621	TCA	RP1L1	-	NULL		0.622	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP1L1	HGNC	protein_coding	OTTHUMT00000375673.1	G			10465315	-1	no_errors	ENST00000382483	ensembl	human	known	70_37	missense	SNP	0.000	A
TNFRSF6B	8771	genome.wustl.edu	37	20	62326563	62326563	+	5'Flank	SNP	C	C	T			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr20:62326563C>T	ENST00000369996.1	+	0	0				RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.A1163V|RTEL1_ENST00000508582.2_Missense_Mutation_p.A1187V|RTEL1_ENST00000370003.1_Missense_Mutation_p.A408V|RTEL1_ENST00000318100.4_Missense_Mutation_p.A1163V|RTEL1_ENST00000370018.3_Missense_Mutation_p.A1163V|RTEL1_ENST00000360203.5_Missense_Mutation_p.A1163V	NM_003823.3	NP_003814.1	O95407	TNF6B_HUMAN	tumor necrosis factor receptor superfamily, member 6b, decoy						apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)	extracellular space (GO:0005615)	receptor activity (GO:0004872)			central_nervous_system(1)|lung(2)|skin(1)	4	all_cancers(38;4.66e-12)|all_epithelial(29;2.56e-13)|Lung NSC(23;1.06e-08)|all_lung(23;3.34e-08)		Epithelial(9;1.78e-08)|all cancers(9;7.89e-08)|OV - Ovarian serous cystadenocarcinoma(5;0.00504)			ACCCACAGGGCTCCCCAACCA	0.701																																																	0													31.0	37.0	35.0					20																	62326563		2177	4277	6454	SO:0001631	upstream_gene_variant	51750			AF104419	CCDS13532.1	20q13.33	2012-06-27						"""Tumor necrosis factor receptor superfamily"""	11921	protein-coding gene	gene with protein product		603361				9872321, 10318773	Standard	NM_003823		Approved	DcR3, DCR3, TR6, M68	uc002yfz.3	O95407	OTTHUMG00000143724		20.37:g.62326563C>T	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_DEAD_2,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3	p.A1163V	ENST00000369996.1	37	c.3488	CCDS13532.1	20	.	.	.	.	.	.	.	.	.	.	C	10.97	1.500731	0.26861	.	.	ENSG00000258366	ENST00000370018;ENST00000318100;ENST00000508582;ENST00000360203;ENST00000370003	D;D;D;D;T	0.82255	-1.56;-1.59;-1.52;-1.56;0.85	3.98	0.558	0.17266	.	11.013500	0.00166	N	0.000001	T	0.71888	0.3393	N	0.19112	0.55	0.09310	N	1	B;P;B;B	0.38827	0.178;0.649;0.112;0.178	B;B;B;B	0.36666	0.058;0.23;0.016;0.036	T	0.60910	-0.7169	10	0.30078	T	0.28	-0.3551	6.9642	0.24613	0.5078:0.3365:0.1557:0.0	.	1187;408;1163;1163	Q9NZ71-7;Q9NZ71-5;Q9NZ71;Q9NZ71-6	.;.;RTEL1_HUMAN;.	V	1163;1163;1187;1163;408	ENSP00000359035:A1163V;ENSP00000322287:A1163V;ENSP00000424307:A1187V;ENSP00000353332:A1163V;ENSP00000359020:A408V	ENSP00000353332:A1163V	A	+	2	0	AL353715.1	61797007	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	0.591000	0.23969	-0.099000	0.12263	0.462000	0.41574	GCT	RTEL1	-	NULL		0.701	TNFRSF6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTEL1	HGNC	protein_coding	OTTHUMT00000080182.1	C			62326563	+1	no_errors	ENST00000318100	ensembl	human	known	70_37	missense	SNP	0.001	T
RYR1	6261	genome.wustl.edu	37	19	38995470	38995470	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr19:38995470C>T	ENST00000359596.3	+	51	8150	c.8150C>T	c.(8149-8151)gCc>gTc	p.A2717V	RYR1_ENST00000355481.4_Missense_Mutation_p.A2717V|RYR1_ENST00000360985.3_Missense_Mutation_p.A2717V			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2717	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	TATGTGGATGCCTCATACTCA	0.592																																																	0													58.0	55.0	56.0					19																	38995470		2203	4300	6503	SO:0001583	missense	6261			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.8150C>T	19.37:g.38995470C>T	ENSP00000352608:p.Ala2717Val	Somatic		WXS	Illumina HiSeq	Phase_IV	Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif	p.A2717V	ENST00000359596.3	37	c.8150	CCDS33011.1	19	.	.	.	.	.	.	.	.	.	.	C	14.60	2.585128	0.46110	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	T;T;T	0.66815	-0.23;-0.23;-0.23	4.2	4.2	0.49525	.	0.000000	0.64402	U	0.000005	T	0.63640	0.2528	L	0.33485	1.01	0.47737	D	0.999507	P;P	0.46784	0.884;0.816	P;B	0.47864	0.559;0.357	T	0.68138	-0.5488	10	0.54805	T	0.06	.	15.8128	0.78578	0.0:1.0:0.0:0.0	.	2717;2717	P21817-2;P21817	.;RYR1_HUMAN	V	2717	ENSP00000352608:A2717V;ENSP00000347667:A2717V;ENSP00000354254:A2717V	ENSP00000347667:A2717V	A	+	2	0	RYR1	43687310	1.000000	0.71417	0.110000	0.21437	0.186000	0.23388	7.567000	0.82357	2.334000	0.79466	0.491000	0.48974	GCC	RYR1	-	NULL		0.592	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR1	HGNC	protein_coding	OTTHUMT00000462137.1	C			38995470	+1	no_errors	ENST00000359596	ensembl	human	known	70_37	missense	SNP	1.000	T
RTN2	6253	genome.wustl.edu	37	19	45997641	45997641	+	Silent	SNP	C	C	T			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr19:45997641C>T	ENST00000245923.4	-	4	832	c.597G>A	c.(595-597)tcG>tcA	p.S199S	PPM1N_ENST00000401705.1_Intron|RTN2_ENST00000430715.2_5'Flank|RTN2_ENST00000590526.1_5'UTR|RTN2_ENST00000344680.4_Silent_p.S199S|PPM1N_ENST00000396737.2_5'Flank|RTN2_ENST00000589384.1_5'Flank|PPM1N_ENST00000456399.2_5'Flank	NM_005619.4	NP_005610.1	O75298	RTN2_HUMAN	reticulon 2	199					cell death (GO:0008219)|intracellular protein transmembrane transport (GO:0065002)|regulation of glucose import (GO:0046324)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)				cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		AGACCTCGGGCGATGAGGGCT	0.617																																																	0													56.0	51.0	53.0					19																	45997641		2203	4300	6503	SO:0001819	synonymous_variant	6253			AF038540	CCDS12665.1, CCDS12666.1, CCDS46114.1	19q13.2-q13.3	2012-03-30				ENSG00000125744			10468	protein-coding gene	gene with protein product	"""NSP-like protein 1"", ""Neuroendocrine-specific protein-like 1"""	603183	"""spastic paraplegia 12 (autosomal dominant)"""	SPG12		8812484, 9530622, 22232211	Standard	NM_005619		Approved	NSP2, NSPL1	uc002pcb.4	O75298		ENST00000245923.4:c.597G>A	19.37:g.45997641C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	O60509|Q7RTM6|Q7RTN1|Q7RTN2	Silent	SNP	pfam_Reticulon,pfscan_Reticulon	p.S199	ENST00000245923.4	37	c.597	CCDS12665.1	19																																																																																			RTN2	-	NULL		0.617	RTN2-001	KNOWN	basic|CCDS	protein_coding	RTN2	HGNC	protein_coding	OTTHUMT00000459574.1	C	NM_005619		45997641	-1	no_errors	ENST00000245923	ensembl	human	known	70_37	silent	SNP	0.001	T
SDAD1P1	157489	genome.wustl.edu	37	8	26237175	26237175	+	RNA	SNP	G	G	A	rs1064803		TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr8:26237175G>A	ENST00000519902.1	-	0	2773									SDA1 domain containing 1 pseudogene 1																		TTCAATGTCCGGAAGAGAAAG	0.433																																																	0																																												157489					8p21.2	2010-11-24			ENSG00000228451	ENSG00000228451			31403	pseudogene	pseudogene							Standard	NG_006994		Approved				OTTHUMG00000163945		8.37:g.26237175G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000519902.1	37	NULL		8																																																																																			SDAD1P1	-	-		0.433	SDAD1P1-002	KNOWN	basic	processed_transcript	SDAD1P1	HGNC	pseudogene	OTTHUMT00000376512.1	G	NG_006994		26237175	-1	no_errors	ENST00000519902	ensembl	human	known	70_37	rna	SNP	0.750	A
SEC22B	9554	genome.wustl.edu	37	1	145116679	145116679	+	RNA	SNP	T	T	C	rs10797635	byFrequency	TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr1:145116679T>C	ENST00000453618.1	+	0	1765							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)											TTGTTATTAGTGTAAGAGCAA	0.368																																																	0																																												9554			AF047442		1q21.1	2012-04-20	2010-03-12	2006-04-25	ENSG00000223380				10700	protein-coding gene	gene with protein product		604029	"""SEC22, vesicle trafficking protein (S. cerevisiae)-like 1"", ""SEC22 vesicle trafficking protein-like 1 (S. cerevisiae)"", ""SEC22 vesicle trafficking protein homolog B (S. cerevisiae)"""	SEC22L1		9094723, 16354670	Standard	NM_004892		Approved	sec22b, ERS-24	uc031poa.1	O75396	OTTHUMG00000013745		1.37:g.145116679T>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K1G0	RNA	SNP	-	NULL	ENST00000453618.1	37	NULL		1																																																																																			SEC22B	-	-		0.368	SEC22B-001	KNOWN	basic	processed_transcript	SEC22B	HGNC	processed_transcript	OTTHUMT00000038523.5	T	NM_004892		145116679	+1	no_errors	ENST00000453618	ensembl	human	known	70_37	rna	SNP	0.001	C
SEL1L2	80343	genome.wustl.edu	37	20	13894427	13894427	+	Splice_Site	SNP	C	C	T			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr20:13894427C>T	ENST00000284951.5	-	5	624		c.e5+1		SEL1L2_ENST00000486903.1_Splice_Site|SEL1L2_ENST00000378072.5_Splice_Site			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)							integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						TCAAAACTCACGTTTTGGGCT	0.383																																																	0													117.0	104.0	108.0					20																	13894427		1840	4098	5938	SO:0001630	splice_region_variant	80343			AL137678	CCDS59443.1	20p12.1	2011-03-31	2006-11-24	2006-11-24	ENSG00000101251	ENSG00000101251			15897	protein-coding gene	gene with protein product		614289	"""chromosome 20 open reading frame 50"""	C20orf50			Standard	NM_001271539		Approved	DKFZp434C1826	uc010zrl.3	Q5TEA6	OTTHUMG00000031910	ENST00000284951.5:c.549+1G>A	20.37:g.13894427C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DXX5	Splice_Site	SNP	-	e5+1	ENST00000284951.5	37	c.549+1		20	.	.	.	.	.	.	.	.	.	.	C	19.28	3.796335	0.70567	.	.	ENSG00000101251	ENST00000378072;ENST00000284951	.	.	.	5.87	5.87	0.94306	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0731	0.80948	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SEL1L2	13842427	0.999000	0.42202	0.987000	0.45799	0.906000	0.53458	4.052000	0.57420	2.941000	0.99782	0.655000	0.94253	.	SEL1L2	-	-		0.383	SEL1L2-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	SEL1L2	HGNC	protein_coding	OTTHUMT00000078067.3	C	NM_025229	Intron	13894427	-1	no_errors	ENST00000284951	ensembl	human	known	70_37	splice_site	SNP	0.993	T
SIK2	23235	genome.wustl.edu	37	11	111487074	111487074	+	Missense_Mutation	SNP	A	A	T			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr11:111487074A>T	ENST00000304987.3	+	2	416	c.243A>T	c.(241-243)aaA>aaT	p.K81N		NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	81	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of insulin receptor signaling pathway (GO:0046626)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						ACATAATCAAACTTTATCAGG	0.328																																																	0													113.0	106.0	109.0					11																	111487074		2201	4297	6498	SO:0001583	missense	23235			AB018324	CCDS8347.1	11q23.1	2008-12-23	2008-12-23	2008-12-23	ENSG00000170145	ENSG00000170145			21680	protein-coding gene	gene with protein product		608973	"""SNF1-like kinase 2"""	SNF1LK2		15067358	Standard	NM_015191		Approved	KIAA0781, QIK, DKFZp434K1115, LOH11CR1I	uc001plt.3	Q9H0K1	OTTHUMG00000150644	ENST00000304987.3:c.243A>T	11.37:g.111487074A>T	ENSP00000305976:p.Lys81Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K5B8|B0YJ94|O94878|Q17RV0|Q6AZE2|Q76N03|Q8NCV7|Q96CZ8	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kinase_SIK1/2,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.K81N	ENST00000304987.3	37	c.243	CCDS8347.1	11	.	.	.	.	.	.	.	.	.	.	A	19.64	3.865564	0.71949	.	.	ENSG00000170145	ENST00000304987	T	0.26223	1.75	5.31	1.81	0.25067	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.045484	0.85682	D	0.000000	T	0.38904	0.1058	L	0.52011	1.625	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.11131	-1.0600	10	0.87932	D	0	.	7.0618	0.25129	0.5726:0.0:0.4274:0.0	.	81	Q9H0K1	SIK2_HUMAN	N	81	ENSP00000305976:K81N	ENSP00000305976:K81N	K	+	3	2	SIK2	110992284	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	0.824000	0.27379	0.352000	0.24053	0.459000	0.35465	AAA	SIK2	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kinase_SIK1/2,pfscan_Prot_kinase_cat_dom		0.328	SIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIK2	HGNC	protein_coding	OTTHUMT00000319352.3	A	NM_015191		111487074	+1	no_errors	ENST00000304987	ensembl	human	known	70_37	missense	SNP	1.000	T
SLC25A21	89874	genome.wustl.edu	37	14	37194846	37194846	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr14:37194846C>T	ENST00000331299.5	-	6	882	c.367G>A	c.(367-369)Gaa>Aaa	p.E123K	SLC25A21_ENST00000555449.1_Missense_Mutation_p.E123K	NM_030631.3	NP_085134.1	Q9BQT8	ODC_HUMAN	solute carrier family 25 (mitochondrial oxoadipate carrier), member 21	123					cellular nitrogen compound metabolic process (GO:0034641)|lysine catabolic process (GO:0006554)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|pancreas(1)|prostate(1)|skin(1)	9	Esophageal squamous(585;0.164)|Breast(36;0.179)|Hepatocellular(127;0.213)		Lung(8;2.16e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.0112)|all cancers(34;0.0274)|LUSC - Lung squamous cell carcinoma(13;0.149)	GBM - Glioblastoma multiforme(112;0.00204)		ACAATGGCTTCTGTTAGTCCA	0.353																																																	0													96.0	91.0	93.0					14																	37194846		2203	4300	6503	SO:0001583	missense	89874			AJ278148	CCDS9663.1, CCDS55913.1	14q13.3	2014-01-28	2012-03-29		ENSG00000183032	ENSG00000183032		"""Solute carriers"""	14411	protein-coding gene	gene with protein product		607571	"""solute carrier family 25 (mitochondrial oxodicarboxylate carrier), member 21"""			11083877	Standard	NM_030631		Approved	ODC1, ODC	uc001wtz.2	Q9BQT8	OTTHUMG00000140250	ENST00000331299.5:c.367G>A	14.37:g.37194846C>T	ENSP00000329452:p.Glu123Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K0L0|G3V4L5|Q3MJ99	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	p.E123K	ENST00000331299.5	37	c.367	CCDS9663.1	14	.	.	.	.	.	.	.	.	.	.	C	27.7	4.852133	0.91355	.	.	ENSG00000183032	ENST00000555449;ENST00000331299	T;T	0.79352	-1.26;-1.26	5.43	5.43	0.79202	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.90403	0.6996	M	0.88640	2.97	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91877	0.5512	10	0.87932	D	0	-17.3156	19.3129	0.94198	0.0:1.0:0.0:0.0	.	123	Q9BQT8	ODC_HUMAN	K	123	ENSP00000451873:E123K;ENSP00000329452:E123K	ENSP00000329452:E123K	E	-	1	0	SLC25A21	36264597	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	5.937000	0.70162	2.565000	0.86533	0.644000	0.83932	GAA	SLC25A21	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier		0.353	SLC25A21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC25A21	HGNC	protein_coding	OTTHUMT00000276732.2	C	NM_030631		37194846	-1	no_errors	ENST00000331299	ensembl	human	known	70_37	missense	SNP	1.000	T
SLC35A4	113829	genome.wustl.edu	37	5	139947395	139947395	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr5:139947395G>A	ENST00000514199.1	+	2	2327	c.641G>A	c.(640-642)cGg>cAg	p.R214Q	SLC35A4_ENST00000323146.3_Missense_Mutation_p.R214Q|APBB3_ENST00000507279.1_Intron			Q96G79	S35A4_HUMAN	solute carrier family 35, member A4	214	Leu-rich.					Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	sugar:proton symporter activity (GO:0005351)			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGCGACAGCGGCTGCCCCTG	0.577																																																	0													80.0	83.0	82.0					5																	139947395		2203	4300	6503	SO:0001583	missense	113829			AJ420598	CCDS4231.1	5q31.3	2013-05-22			ENSG00000176087	ENSG00000176087		"""Solute carriers"""	20753	protein-coding gene	gene with protein product							Standard	NM_080670		Approved		uc003lgg.1	Q96G79	OTTHUMG00000129495	ENST00000514199.1:c.641G>A	5.37:g.139947395G>A	ENSP00000424566:p.Arg214Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K013	Missense_Mutation	SNP	pfam_Nuc_sug_transpt,pfam_DMT,pirsf_UDP/CMP-sugar_transptr	p.R214Q	ENST00000514199.1	37	c.641	CCDS4231.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.389|6.389	0.439905|0.439905	0.12104|0.12104	.|.	.|.	ENSG00000176087|ENSG00000176087	ENST00000432254|ENST00000323146;ENST00000514199	.|T;T	.|0.40756	.|1.02;1.02	4.68|4.68	1.7|1.7	0.24286|0.24286	.|.	.|0.791526	.|0.11532	.|N	.|0.554555	.|T	.|0.21761	.|0.0524	N|N	0.17082|0.17082	0.46|0.46	0.27273|0.27273	N|N	0.958317|0.958317	.|B	.|0.18461	.|0.028	.|B	.|0.14578	.|0.011	.|T	.|0.20638	.|-1.0269	.|9	.|.	.|.	.|.	.|-21.764	3.7395|3.7395	0.08524|0.08524	0.4316:0.1838:0.3845:0.0|0.4316:0.1838:0.3845:0.0	.|.	.|214	.|Q96G79	.|S35A4_HUMAN	.|Q	-1|214	.|ENSP00000327133:R214Q;ENSP00000424566:R214Q	.|.	.|R	+|+	.|2	.|0	SLC35A4|SLC35A4	139927579|139927579	0.053000|0.053000	0.20554|0.20554	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	0.109000|0.109000	0.15417|0.15417	0.593000|0.593000	0.29745|0.29745	-0.369000|-0.369000	0.07265|0.07265	.|CGG	SLC35A4	-	pfam_Nuc_sug_transpt,pirsf_UDP/CMP-sugar_transptr		0.577	SLC35A4-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC35A4	HGNC	protein_coding	OTTHUMT00000372815.1	G	NM_080670		139947395	+1	no_errors	ENST00000323146	ensembl	human	known	70_37	missense	SNP	0.990	A
SLC6A2	6530	genome.wustl.edu	37	16	55690662	55690662	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr16:55690662C>T	ENST00000379906.2	+	1	311	c.56C>T	c.(55-57)aCg>aTg	p.T19M	SLC6A2_ENST00000566163.1_Missense_Mutation_p.T19M|SLC6A2_ENST00000568943.1_Missense_Mutation_p.T19M|SLC6A2_ENST00000561820.1_Missense_Mutation_p.T19M|SLC6A2_ENST00000219833.8_Missense_Mutation_p.T19M|SLC6A2_ENST00000414754.3_Missense_Mutation_p.T19M	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	19					monoamine transport (GO:0015844)|norepinephrine transport (GO:0015874)|response to drug (GO:0042493)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	monoamine transmembrane transporter activity (GO:0008504)|norepinephrine:sodium symporter activity (GO:0005334)			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Bupropion(DB01156)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Diethylpropion(DB00937)|Dopamine(DB00988)|Doxepin(DB01142)|Droxidopa(DB06262)|Duloxetine(DB00476)|Ephedra(DB01363)|Ephedrine(DB01364)|Ergotamine(DB00696)|Escitalopram(DB01175)|Ginkgo biloba(DB01381)|Guanadrel(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Iobenguane(DB06704)|Ketamine(DB01221)|Levomilnacipran(DB08918)|Levonordefrin(DB06707)|Loxapine(DB00408)|Maprotiline(DB00934)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Orphenadrine(DB01173)|Paroxetine(DB00715)|Pethidine(DB00454)|Phendimetrazine(DB01579)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trimipramine(DB00726)|Venlafaxine(DB00285)	GGGGCGGACACGGGTCCAGAG	0.697																																																	0													26.0	29.0	28.0					16																	55690662		2196	4297	6493	SO:0001583	missense	6530				CCDS10754.1, CCDS54011.1, CCDS58463.1	16q12.2	2013-07-19	2013-07-19		ENSG00000103546	ENSG00000103546		"""Solute carriers"""	11048	protein-coding gene	gene with protein product	"""norepinephrine transporter"""	163970	"""solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2"""	NET1, NAT1, SLC6A5		2008212	Standard	NM_001043		Approved	NET	uc021tio.1	P23975	OTTHUMG00000133208	ENST00000379906.2:c.56C>T	16.37:g.55690662C>T	ENSP00000369237:p.Thr19Met	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R707|B4DX48|Q96KH8	Missense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_noradrenaline	p.T19M	ENST00000379906.2	37	c.56	CCDS10754.1	16	.	.	.	.	.	.	.	.	.	.	C	3.517	-0.098562	0.07010	.	.	ENSG00000103546	ENST00000414754;ENST00000379906;ENST00000219833	T;T;T	0.74209	-0.82;-0.77;-0.77	5.27	1.02	0.19986	.	1.030140	0.07612	N	0.925573	T	0.51770	0.1694	N	0.08118	0	0.09310	N	1	B;B	0.20459	0.045;0.006	B;B	0.08055	0.003;0.003	T	0.40117	-0.9580	10	0.45353	T	0.12	.	5.0781	0.14642	0.2493:0.5358:0.0:0.2149	.	19;19	Q96KH8;P23975	.;SC6A2_HUMAN	M	19	ENSP00000394956:T19M;ENSP00000369237:T19M;ENSP00000219833:T19M	ENSP00000219833:T19M	T	+	2	0	SLC6A2	54248163	0.000000	0.05858	0.009000	0.14445	0.022000	0.10575	0.242000	0.18087	0.300000	0.22699	-0.253000	0.11424	ACG	SLC6A2	-	NULL		0.697	SLC6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A2	HGNC	protein_coding	OTTHUMT00000256922.2	C			55690662	+1	no_errors	ENST00000219833	ensembl	human	known	70_37	missense	SNP	0.155	T
SMCR8	140775	genome.wustl.edu	37	17	18219721	18219721	+	Silent	SNP	G	G	A			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr17:18219721G>A	ENST00000406438.3	+	1	1098	c.618G>A	c.(616-618)agG>agA	p.R206R	TOP3A_ENST00000582230.1_5'Flank|TOP3A_ENST00000321105.5_5'Flank|TOP3A_ENST00000542570.1_5'Flank	NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region, candidate 8	206						nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						ATTACACCAGGACAGTGCTAC	0.468																																																	0													60.0	60.0	60.0					17																	18219721		2203	4300	6503	SO:0001819	synonymous_variant	140775			AF467440	CCDS11195.2	17p11.2	2014-06-12			ENSG00000176994	ENSG00000176994			17921	protein-coding gene	gene with protein product						11997338, 23248642	Standard	NM_144775		Approved	FLJ34716	uc002gsy.4	Q8TEV9	OTTHUMG00000059394	ENST00000406438.3:c.618G>A	17.37:g.18219721G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A5PKZ5|Q3ZCN0|Q6PJL3	Silent	SNP	pfam_Folliculin	p.R206	ENST00000406438.3	37	c.618	CCDS11195.2	17																																																																																			SMCR8	-	NULL		0.468	SMCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMCR8	HGNC	protein_coding	OTTHUMT00000132065.2	G	NM_144775		18219721	+1	no_errors	ENST00000406438	ensembl	human	known	70_37	silent	SNP	1.000	A
SP1	6667	genome.wustl.edu	37	12	53803312	53803312	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr12:53803312G>A	ENST00000327443.4	+	5	2109	c.2011G>A	c.(2011-2013)Gat>Aat	p.D671N	SP1_ENST00000426431.2_Missense_Mutation_p.D664N	NM_001251825.1|NM_138473.2	NP_001238754.1|NP_612482.2	P08047	SP1_HUMAN	Sp1 transcription factor	671	VZV IE62-binding.				cellular lipid metabolic process (GO:0044255)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|embryonic skeletal system development (GO:0048706)|enucleate erythrocyte differentiation (GO:0043353)|gene expression (GO:0010467)|liver development (GO:0001889)|lung development (GO:0030324)|megakaryocyte differentiation (GO:0030219)|ossification (GO:0001503)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|trophectodermal cell differentiation (GO:0001829)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)	bHLH transcription factor binding (GO:0043425)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|histone deacetylase binding (GO:0042826)|HMG box domain binding (GO:0071837)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|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)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.00527)		CACACGTTCGGATGAGCTACA	0.478																																																	0													96.0	89.0	91.0					12																	53803312		2203	4300	6503	SO:0001583	missense	6667			J03133	CCDS8857.1, CCDS44898.1	12q13.1	2013-01-08						"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11205	protein-coding gene	gene with protein product	"""specificity protein 1"""	189906				1662663	Standard	NM_003109		Approved		uc001scw.3	P08047	OTTHUMG00000170047	ENST00000327443.4:c.2011G>A	12.37:g.53803312G>A	ENSP00000329357:p.Asp671Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	E4Z9M7|G5E9M8|Q86TN8|Q9H3Q5|Q9NR51|Q9NY21|Q9NYE7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D671N	ENST00000327443.4	37	c.2011	CCDS8857.1	12	.	.	.	.	.	.	.	.	.	.	G	36	5.861513	0.97036	.	.	ENSG00000185591	ENST00000327443;ENST00000426431	T;T	0.26067	1.76;1.76	5.1	5.1	0.69264	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.56097	D	0.000027	T	0.41003	0.1140	L	0.31664	0.95	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.26258	-1.0108	10	0.87932	D	0	.	17.8372	0.88701	0.0:0.0:1.0:0.0	.	671	P08047	SP1_HUMAN	N	671;664	ENSP00000329357:D671N;ENSP00000404263:D664N	ENSP00000329357:D671N	D	+	1	0	SP1	52089579	1.000000	0.71417	0.977000	0.42913	0.988000	0.76386	9.535000	0.98064	2.827000	0.97445	0.650000	0.86243	GAT	SP1	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.478	SP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SP1	HGNC	protein_coding	OTTHUMT00000407044.1	G			53803312	+1	no_errors	ENST00000327443	ensembl	human	known	70_37	missense	SNP	1.000	A
SRD5A2	6716	genome.wustl.edu	37	2	31805820	31805820	+	RNA	SNP	C	C	T	rs61748123		TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr2:31805820C>T	ENST00000405650.1	-	0	316							P31213	S5A2_HUMAN	steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)						androgen biosynthetic process (GO:0006702)|androgen metabolic process (GO:0008209)|cell differentiation (GO:0030154)|cell-cell signaling (GO:0007267)|male gonad development (GO:0008584)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	3-oxo-5-alpha-steroid 4-dehydrogenase activity (GO:0003865)|cholestenone 5-alpha-reductase activity (GO:0047751)|sterol 5-alpha reductase activity (GO:0009917)					Acute lymphoblastic leukemia(172;0.155)				Azelaic Acid(DB00548)|Dutasteride(DB01126)|Finasteride(DB01216)|Spironolactone(DB00421)	AACCAGGCGGCGCGGGCTGGC	0.711																																																	0													12.0	17.0	15.0					2																	31805820		1900	4096	5996			6716			M74047	CCDS74503.1	2p23.1	2013-01-31			ENSG00000049319	ENSG00000277893	1.3.99.5		11285	protein-coding gene	gene with protein product		607306				1522235	Standard	NM_000348		Approved		uc002rnw.1	P31213	OTTHUMG00000152057		2.37:g.31805820C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RE87|Q2M1R4|Q9BYE6	RNA	SNP	-	NULL	ENST00000405650.1	37	NULL		2																																																																																			SRD5A2	-	-		0.711	SRD5A2-001	KNOWN	sequence_error|basic	processed_transcript	SRD5A2	HGNC	processed_transcript	OTTHUMT00000325124.1	C	NM_000348		31805820	-1	no_errors	ENST00000233139	ensembl	human	known	70_37	rna	SNP	0.185	T
TP53	7157	genome.wustl.edu	37	17	7574017	7574017	+	Missense_Mutation	SNP	C	C	T	rs121912664		TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr17:7574017C>T	ENST00000269305.4	-	10	1199	c.1010G>A	c.(1009-1011)cGc>cAc	p.R337H	TP53_ENST00000445888.2_Missense_Mutation_p.R337H|TP53_ENST00000359597.4_Intron|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_3'UTR	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	337	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.|Interaction with HIPK2.|Oligomerization.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:9452042}.|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:11481490}.|R -> L (in sporadic cancers; somatic mutation).|R -> P (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.R337L(15)|p.0?(8)|p.R337H(4)|p.I332fs*5(1)|p.?(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)	CATCTCGAAGCGCTCACGCCC	0.527		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"""	29	Substitution - Missense(19)|Whole gene deletion(8)|Unknown(1)|Deletion - Frameshift(1)	lung(8)|liver(8)|bone(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|central_nervous_system(2)|stomach(1)|breast(1)	GRCh37	CM012663	TP53	M	rs121912664						57.0	45.0	49.0					17																	7574017		2203	4300	6503	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.1010G>A	17.37:g.7574017C>T	ENSP00000269305:p.Arg337His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R337H	ENST00000269305.4	37	c.1010	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	14.54	2.565214	0.45694	.	.	ENSG00000141510	ENST00000269305;ENST00000445888;ENST00000396473	D;D	0.95171	-3.63;-3.63	5.43	3.45	0.39498	p53, tetramerisation domain (3);	0.000000	0.85682	D	0.000000	D	0.95063	0.8401	M	0.73598	2.24	0.40311	D	0.97871	D	0.53462	0.96	P	0.53146	0.719	D	0.94086	0.7348	10	0.62326	D	0.03	-7.3279	9.8868	0.41266	0.0:0.8331:0.0:0.1669	.	337	P04637	P53_HUMAN	H	337;337;326	ENSP00000269305:R337H;ENSP00000391478:R337H	ENSP00000269305:R337H	R	-	2	0	TP53	7514742	0.593000	0.26840	0.008000	0.14137	0.280000	0.26924	0.875000	0.28079	0.671000	0.31185	0.561000	0.74099	CGC	TP53	-	pfam_p53_tetrameristn,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor		0.527	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	C	NM_000546		7574017	-1	no_errors	ENST00000269305	ensembl	human	known	70_37	missense	SNP	0.896	T
TP73	7161	genome.wustl.edu	37	1	3624293	3624293	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr1:3624293G>T	ENST00000378295.4	+	4	522	c.367G>T	c.(367-369)Gga>Tga	p.G123*	TP73_ENST00000378288.4_Nonsense_Mutation_p.G74*|TP73_ENST00000604074.1_Nonsense_Mutation_p.G123*|TP73_ENST00000604479.1_Nonsense_Mutation_p.G123*|TP73_ENST00000378290.4_Nonsense_Mutation_p.G52*|TP73_ENST00000603362.1_Nonsense_Mutation_p.G123*|TP73_ENST00000357733.3_Nonsense_Mutation_p.G123*|TP73_ENST00000378285.1_Nonsense_Mutation_p.G74*|TP73_ENST00000378280.1_Nonsense_Mutation_p.G74*|TP73_ENST00000346387.4_Nonsense_Mutation_p.G123*|TP73_ENST00000354437.4_Nonsense_Mutation_p.G123*	NM_001204185.1|NM_005427.3	NP_001191114.1|NP_005418.1	O15350	P73_HUMAN	tumor protein p73	123					activation of MAPK activity (GO:0000187)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|cerebrospinal fluid secretion (GO:0033326)|digestive tract morphogenesis (GO:0048546)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|hippocampus development (GO:0021766)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|kidney development (GO:0001822)|mismatch repair (GO:0006298)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron development (GO:0048666)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell size (GO:0045793)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902167)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein tetramerization (GO:0051262)|release of cytochrome c from mitochondria (GO:0001836)|response to gamma radiation (GO:0010332)|response to organonitrogen compound (GO:0010243)|response to X-ray (GO:0010165)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1)	20	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)		CGACTACCCCGGACCCCACCA	0.672																																																	0													60.0	56.0	57.0					1																	3624293		2202	4299	6501	SO:0001587	stop_gained	7161			AB055065	CCDS49.1, CCDS44049.1, CCDS44050.1, CCDS44051.1, CCDS55566.1, CCDS55567.1, CCDS55568.1, CCDS55569.1, CCDS59965.1	1p36.3	2010-06-15			ENSG00000078900	ENSG00000078900			12003	protein-coding gene	gene with protein product		601990				9296498, 9288759	Standard	NM_001204186		Approved	P73	uc001akp.3	O15350	OTTHUMG00000000610	ENST00000378295.4:c.367G>T	1.37:g.3624293G>T	ENSP00000367545:p.Gly123*	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z7J4|B7Z8Z1|B7Z9C1|C9J521|O15351|Q17RN8|Q5TBV5|Q5TBV6|Q8NHW9|Q8TDY5|Q8TDY6|Q9NTK8	Nonsense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_SAM_2,superfamily_p53-like_TF_DNA-bd,superfamily_SAM/pointed,superfamily_p53_tetrameristn,smart_SAM,prints_p53_tumour_suppressor	p.G123*	ENST00000378295.4	37	c.367	CCDS49.1	1	.	.	.	.	.	.	.	.	.	.	G	39	7.302238	0.98196	.	.	ENSG00000078900	ENST00000378295;ENST00000354437;ENST00000357733;ENST00000346387;ENST00000378288;ENST00000378285;ENST00000378280;ENST00000378290	.	.	.	4.6	4.6	0.57074	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-22.2464	16.3935	0.83548	0.0:0.0:1.0:0.0	.	.	.	.	X	123;123;123;123;74;74;74;52	.	ENSP00000340740:G123X	G	+	1	0	TP73	3614153	1.000000	0.71417	0.770000	0.31555	0.759000	0.43091	9.676000	0.98643	2.096000	0.63516	0.491000	0.48974	GGA	TP73	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd		0.672	TP73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP73	HGNC	protein_coding	OTTHUMT00000001468.4	G	NM_005427		3624293	+1	no_errors	ENST00000378295	ensembl	human	known	70_37	nonsense	SNP	0.998	T
TRPT1	83707	genome.wustl.edu	37	11	63992435	63992435	+	Silent	SNP	G	G	A			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr11:63992435G>A	ENST00000317459.6	-	4	333	c.165C>T	c.(163-165)ttC>ttT	p.F55F	TRPT1_ENST00000546089.1_Silent_p.F6F|TRPT1_ENST00000394546.2_Silent_p.F55F|NUDT22_ENST00000279206.3_5'Flank|NUDT22_ENST00000441250.2_5'Flank|TRPT1_ENST00000394547.3_Silent_p.F6F|TRPT1_ENST00000541278.1_Silent_p.F55F|TRPT1_ENST00000546133.1_5'Flank|TRPT1_ENST00000540472.1_5'UTR			Q86TN4	TRPT1_HUMAN	tRNA phosphotransferase 1	55					regulation of protein kinase activity (GO:0045859)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)		tRNA 2'-phosphotransferase activity (GO:0000215)			lung(2)|skin(1)	3						CCAGGGGCACGAAGCCATCTG	0.622																																																	0													10.0	9.0	9.0					11																	63992435		2168	4237	6405	SO:0001819	synonymous_variant	83707				CCDS31595.1, CCDS44639.1, CCDS53652.1, CCDS53653.1	11q13	2012-05-03			ENSG00000149743	ENSG00000149743			20316	protein-coding gene	gene with protein product	"""tRNA splicing 2' phosphotransferase 1"""	610470				14504659	Standard	NM_001160389		Approved	MGC11134	uc010rnc.2	Q86TN4	OTTHUMG00000167844	ENST00000317459.6:c.165C>T	11.37:g.63992435G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8MU17|A8MYC9|F5H2B2|Q9BSB9	Silent	SNP	pfam_Ptrans_KptA/Tpt1	p.F55	ENST00000317459.6	37	c.165	CCDS31595.1	11																																																																																			TRPT1	-	pfam_Ptrans_KptA/Tpt1		0.622	TRPT1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TRPT1	HGNC	protein_coding	OTTHUMT00000396579.1	G	NM_031472		63992435	-1	no_errors	ENST00000394546	ensembl	human	known	70_37	silent	SNP	0.996	A
UHRF1BP1	54887	genome.wustl.edu	37	6	34827294	34827294	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr6:34827294G>A	ENST00000192788.5	+	14	3332	c.3161G>A	c.(3160-3162)gGc>gAc	p.G1054D	UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.G1054D	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	1054							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						TTCAGTTTGGGCAGAGATCGA	0.532																																																	0													118.0	121.0	120.0					6																	34827294		2115	4225	6340	SO:0001583	missense	54887			AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 107"""	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.3161G>A	6.37:g.34827294G>A	ENSP00000192788:p.Gly1054Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9NXE0	Missense_Mutation	SNP	NULL	p.G1054D	ENST00000192788.5	37	c.3161	CCDS43455.1	6	.	.	.	.	.	.	.	.	.	.	G	12.08	1.830553	0.32329	.	.	ENSG00000065060	ENST00000192788;ENST00000452449	T;T	0.08896	3.05;3.04	5.47	5.47	0.80525	.	0.514144	0.22187	N	0.063430	T	0.03739	0.0106	N	0.08118	0	0.39128	D	0.961792	D	0.53619	0.961	P	0.49637	0.617	T	0.58929	-0.7549	10	0.20046	T	0.44	-13.8929	17.5183	0.87780	0.0:0.0:1.0:0.0	.	1054	Q6BDS2	URFB1_HUMAN	D	1054	ENSP00000192788:G1054D;ENSP00000400628:G1054D	ENSP00000192788:G1054D	G	+	2	0	UHRF1BP1	34935272	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.524000	0.81866	2.552000	0.86080	0.591000	0.81541	GGC	UHRF1BP1	-	NULL		0.532	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UHRF1BP1	HGNC	protein_coding	OTTHUMT00000040260.1	G	NM_017754		34827294	+1	no_errors	ENST00000192788	ensembl	human	known	70_37	missense	SNP	1.000	A
USP43	124739	genome.wustl.edu	37	17	9632171	9632171	+	Missense_Mutation	SNP	C	C	A			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr17:9632171C>A	ENST00000285199.7	+	15	3332	c.3236C>A	c.(3235-3237)gCc>gAc	p.A1079D	USP43_ENST00000570827.2_3'UTR|USP43_ENST00000570475.1_Missense_Mutation_p.A1074D	NM_001267576.1|NM_153210.4	NP_001254505.1|NP_694942.3	Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43	1079					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						GCCAGCAGGGCCCCGAGAGGC	0.602																																																	0													44.0	48.0	47.0					17																	9632171		1944	4155	6099	SO:0001583	missense	124739			AK055188	CCDS45610.1, CCDS58516.1	17p12	2005-08-08	2005-08-08			ENSG00000154914		"""Ubiquitin-specific peptidases"""	20072	protein-coding gene	gene with protein product			"""ubiquitin specific protease 43"""			12838346	Standard	NM_153210		Approved	FLJ30626	uc010cod.4	Q70EL4		ENST00000285199.7:c.3236C>A	17.37:g.9632171C>A	ENSP00000285199:p.Ala1079Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NDT9|B7ZLT9|B7ZVX5|Q8N2C5|Q96DQ6	Missense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.A1079D	ENST00000285199.7	37	c.3236	CCDS45610.1	17	.	.	.	.	.	.	.	.	.	.	C	11.04	1.520509	0.27211	.	.	ENSG00000154914	ENST00000285199	T	0.08896	3.04	5.2	0.969	0.19686	.	2.212350	0.02219	N	0.063838	T	0.04724	0.0128	N	0.08118	0	0.09310	N	1	B;B;B;B	0.33477	0.289;0.274;0.289;0.413	B;B;B;B	0.31495	0.045;0.069;0.045;0.131	T	0.26643	-1.0097	10	0.36615	T	0.2	-7.9988	3.5949	0.08002	0.1746:0.5532:0.0:0.2722	.	1074;768;1079;591	B7ZVX5;Q70EL4-3;Q70EL4;Q70EL4-2	.;.;UBP43_HUMAN;.	D	1079	ENSP00000285199:A1079D	ENSP00000285199:A1079D	A	+	2	0	USP43	9572896	0.002000	0.14202	0.540000	0.28089	0.005000	0.04900	0.414000	0.21164	0.422000	0.26005	-0.136000	0.14681	GCC	USP43	-	NULL		0.602	USP43-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	USP43	HGNC	protein_coding	OTTHUMT00000439855.3	C	NM_153210		9632171	+1	no_errors	ENST00000285199	ensembl	human	known	70_37	missense	SNP	0.209	A
USP48	84196	genome.wustl.edu	37	1	22055105	22055105	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr1:22055105C>T	ENST00000308271.9	-	11	2056	c.1408G>A	c.(1408-1410)Gaa>Aaa	p.E470K	USP48_ENST00000421625.2_Missense_Mutation_p.E470K|USP48_ENST00000529637.1_Missense_Mutation_p.E469K|USP48_ENST00000400301.1_Missense_Mutation_p.E470K	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	470	DUSP 1. {ECO:0000255|PROSITE- ProRule:PRU00613}.				ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		TTAACCTCTTCGTGTTTTGCT	0.423																																																	0													218.0	189.0	199.0					1																	22055105		2203	4300	6503	SO:0001583	missense	84196			AF502942	CCDS30623.1, CCDS44084.1	1p36.12	2008-02-05	2005-08-08	2004-04-07	ENSG00000090686	ENSG00000090686		"""Ubiquitin-specific peptidases"""	18533	protein-coding gene	gene with protein product			"""ubiquitin specific protease 31"", ""ubiquitin specific protease 48"""	USP31		12838346	Standard	XM_005246009		Approved	FLJ23277, FLJ11328, FLJ20103, FLJ23054, MGC14879	uc001bfb.3	Q86UV5	OTTHUMG00000007798	ENST00000308271.9:c.1408G>A	1.37:g.22055105C>T	ENSP00000309262:p.Glu470Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Missense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19,pfscan_Ubiquitin_supergroup	p.E470K	ENST00000308271.9	37	c.1408	CCDS30623.1	1	.	.	.	.	.	.	.	.	.	.	C	33	5.254232	0.95336	.	.	ENSG00000090686	ENST00000400301;ENST00000308271;ENST00000529637;ENST00000526044;ENST00000534705;ENST00000421625	T;T;T;T	0.04970	3.53;3.52;3.52;3.64	5.84	5.84	0.93424	Peptidase C19, ubiquitin-specific peptidase, DUSP domain (1);	0.118844	0.64402	D	0.000006	T	0.12817	0.0311	L	0.60455	1.87	0.80722	D	1	D;B;D;P;B;B	0.57899	0.976;0.39;0.981;0.669;0.414;0.291	B;B;P;B;B;B	0.47134	0.353;0.053;0.539;0.116;0.031;0.009	T	0.00792	-1.1564	10	0.39692	T	0.17	.	17.2998	0.87180	0.0:1.0:0.0:0.0	.	469;470;470;470;470;470	B7ZKS7;B7ZKS3;Q86UV5-7;Q86UV5-3;Q86UV5-2;Q86UV5	.;.;.;.;.;UBP48_HUMAN	K	470;470;469;56;92;470	ENSP00000383157:E470K;ENSP00000309262:E470K;ENSP00000431949:E469K;ENSP00000406256:E470K	ENSP00000309262:E470K	E	-	1	0	USP48	21927692	1.000000	0.71417	0.975000	0.42487	0.985000	0.73830	7.487000	0.81328	2.768000	0.95171	0.650000	0.86243	GAA	USP48	-	NULL		0.423	USP48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP48	HGNC	protein_coding	OTTHUMT00000021372.1	C	NM_032236		22055105	-1	no_errors	ENST00000308271	ensembl	human	known	70_37	missense	SNP	1.000	T
ZNF770	54989	genome.wustl.edu	37	15	35275294	35275294	+	Silent	SNP	G	G	A			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr15:35275294G>A	ENST00000356321.4	-	3	686	c.342C>T	c.(340-342)gtC>gtT	p.V114V		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	114					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		GCAATCTTCTGACCTGTTTAA	0.378																																																	0													104.0	102.0	103.0					15																	35275294		2201	4298	6499	SO:0001819	synonymous_variant	54989			BC071603	CCDS10042.1	15q14	2013-01-08			ENSG00000198146	ENSG00000198146		"""Zinc fingers, C2H2-type"""	26061	protein-coding gene	gene with protein product							Standard	NM_014106		Approved	FLJ20582, PRO1914	uc001ziw.3	Q6IQ21	OTTHUMG00000129689	ENST00000356321.4:c.342C>T	15.37:g.35275294G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6ZMZ6|Q9NWV2	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.V114	ENST00000356321.4	37	c.342	CCDS10042.1	15																																																																																			ZNF770	-	NULL		0.378	ZNF770-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF770	HGNC	protein_coding	OTTHUMT00000251896.2	G	NM_014106		35275294	-1	no_errors	ENST00000356321	ensembl	human	known	70_37	silent	SNP	0.885	A
VWA9	81556	genome.wustl.edu	37	15	65874292	65874292	+	Splice_Site	SNP	C	C	T			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr15:65874292C>T	ENST00000395644.4	-	11	1640	c.1305G>A	c.(1303-1305)aaG>aaA	p.K435K	VWA9_ENST00000569180.1_5'Flank|VWA9_ENST00000569491.1_Splice_Site_p.K385K|VWA9_ENST00000420799.2_Splice_Site_p.K378K|VWA9_ENST00000442903.3_Splice_Site_p.K399K|VWA9_ENST00000431261.2_Splice_Site_p.K356K|VWA9_ENST00000567744.1_Splice_Site_p.K471K|VWA9_ENST00000313182.2_Splice_Site_p.K435K			Q96SY0	VWA9_HUMAN	von Willebrand factor A domain containing 9	435																	TCTGTCTCACCTTATAGAATG	0.368																																																	0													165.0	141.0	149.0					15																	65874292		2201	4298	6499	SO:0001630	splice_region_variant	81556			AL136662	CCDS55969.1, CCDS45283.1	15q22.31	2012-09-27	2012-09-27	2012-09-27	ENSG00000138614	ENSG00000138614			25372	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 44"""	C15orf44		11230166	Standard	NM_001136043		Approved	DKFZP564O1664	uc010uja.2	Q96SY0	OTTHUMG00000133159	ENST00000395644.4:c.1305+1G>A	15.37:g.65874292C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DDI6|B4DVD5|Q49AH8|Q96HX5|Q9H0S5	Silent	SNP	NULL	p.K471	ENST00000395644.4	37	c.1413		15																																																																																			VWA9	-	NULL		0.368	VWA9-201	KNOWN	basic|appris_principal	protein_coding	VWA9	HGNC	protein_coding	OTTHUMT00000420604.3	C	NM_030800	Silent	65874292	-1	no_errors	ENST00000567744	ensembl	human	known	70_37	silent	SNP	1.000	T
