#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
A2ML1	144568	genome.wustl.edu	37	12	9013793	9013793	+	Silent	SNP	C	C	T			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr12:9013793C>T	ENST00000299698.7	+	28	3582	c.3402C>T	c.(3400-3402)ctC>ctT	p.L1134L	A2ML1_ENST00000539547.1_Silent_p.L643L	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271			alpha-2-macroglobulin-like 1											NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						CGACCAACCTCTACACACAGG	0.458																																																	0													149.0	149.0	149.0					12																	9013793		1950	4145	6095	SO:0001819	synonymous_variant	144568			AK057908	CCDS8596.2, CCDS73439.1	12p13	2010-12-14	2005-09-01	2005-09-01	ENSG00000166535	ENSG00000166535			23336	protein-coding gene	gene with protein product		610627	"""C3 and PZP-like, alpha-2-macroglobulin domain containing 9"""	CPAMD9		16298998	Standard	NM_144670		Approved	FLJ25179	uc001quz.5	A8K2U0	OTTHUMG00000128499	ENST00000299698.7:c.3402C>T	12.37:g.9013793C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_A2M_comp,pfam_Macroglobln_a2,pfam_A2M_N_2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_SV_autoAg,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd	p.L1134	ENST00000299698.7	37	c.3402	CCDS8596.2	12																																																																																			A2ML1	-	pfam_A2M_comp,superfamily_Terpenoid_cyclase/PrenylTrfase		0.458	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	A2ML1	HGNC	protein_coding	OTTHUMT00000250304.3	C	NM_144670		9013793	+1	no_errors	ENST00000299698	ensembl	human	known	70_37	silent	SNP	0.206	T
AACS	65985	genome.wustl.edu	37	12	125591715	125591715	+	Silent	SNP	G	G	A	rs145117680		TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr12:125591715G>A	ENST00000316519.6	+	8	1022	c.816G>A	c.(814-816)ccG>ccA	p.P272P	AACS_ENST00000316543.10_5'UTR|AACS_ENST00000261686.6_Silent_p.P272P	NM_023928.3	NP_076417.2	Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	272					adipose tissue development (GO:0060612)|cellular response to cholesterol (GO:0071397)|cellular response to glucose stimulus (GO:0071333)|cellular response to testosterone stimulus (GO:0071394)|fatty acid metabolic process (GO:0006631)|liver development (GO:0001889)|positive regulation of insulin secretion (GO:0032024)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|response to oleic acid (GO:0034201)|response to purine-containing compound (GO:0014074)|response to starvation (GO:0042594)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)	acetoacetate-CoA ligase activity (GO:0030729)|ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		AGCAGGCCCCGCAGCTGGAGT	0.607																																																	0								A		4,4402	825.9+/-416.6	0,4,2199	79.0	71.0	74.0		816	-10.9	0.0	12	dbSNP_134	74	1,8599	819.0+/-406.8	0,1,4299	no	coding-synonymous	AACS	NM_023928.3		0,5,6498	AA,AG,GG		0.0116,0.0908,0.0384		272/673	125591715	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	65985			AK022451	CCDS9263.1	12q24.31	2010-09-29			ENSG00000081760	ENSG00000081760	6.2.1.16	"""Acyl-CoA synthetase family"""	21298	protein-coding gene	gene with protein product	"""acyl-CoA synthetase family member 1"""	614364				12623130, 17762044	Standard	NM_023928		Approved	FLJ12389, SUR-5, ACSF1	uc001uhc.3	Q86V21	OTTHUMG00000168550	ENST00000316519.6:c.816G>A	12.37:g.125591715G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q49AB9|Q49AC3|Q658Q8|Q8IWD2|Q8NEW5|Q9BSJ9|Q9H829|Q9HA19	Silent	SNP	pfam_AMP-dep_Synth/Lig,pfam_Acyl-CoA_synth_DUF3448,tigrfam_Acac_CoA_synth	p.P272	ENST00000316519.6	37	c.816	CCDS9263.1	12																																																																																			AACS	-	pfam_AMP-dep_Synth/Lig,tigrfam_Acac_CoA_synth		0.607	AACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AACS	HGNC	protein_coding	OTTHUMT00000400202.1	G	NM_023928		125591715	+1	no_errors	ENST00000316519	ensembl	human	known	70_37	silent	SNP	0.002	A
AATK	9625	genome.wustl.edu	37	17	79096487	79096487	+	Missense_Mutation	SNP	G	G	C			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr17:79096487G>C	ENST00000326724.4	-	11	1273	c.1249C>G	c.(1249-1251)Ctg>Gtg	p.L417V	MIR657_ENST00000385003.1_RNA|AATK_ENST00000417379.1_Missense_Mutation_p.L314V|AATK_ENST00000572339.1_5'Flank	NM_001080395.2	NP_001073864.2	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	417					brain development (GO:0007420)|negative regulation of axon extension (GO:0030517)|neuron apoptotic process (GO:0051402)|peptidyl-tyrosine autophosphorylation (GO:0038083)|Rab protein signal transduction (GO:0032482)	axonal growth cone (GO:0044295)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			ccgggccgcAGAGAGCGCCAG	0.751																																																	0													4.0	4.0	4.0					17																	79096487		1806	3878	5684	SO:0001583	missense	9625			AB014541	CCDS45807.1, CCDS58607.1	17q25.3	2014-06-12			ENSG00000181409	ENSG00000181409			21	protein-coding gene	gene with protein product	"""lemur tyrosine kinase 1"", ""protein phosphatase 1, regulatory subunit 77"""	605276				9734811, 10083745	Standard	NM_001080395		Approved	AATYK, KIAA0641, LMTK1, LMR1, AATYK1, PPP1R77	uc010dia.3	Q6ZMQ8	OTTHUMG00000132717	ENST00000326724.4:c.1249C>G	17.37:g.79096487G>C	ENSP00000324196:p.Leu417Val	Somatic		WXS	Illumina HiSeq	Phase_IV	O75136|Q6ZN31|Q86X28	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.L417V	ENST00000326724.4	37	c.1249	CCDS45807.1	17	.	.	.	.	.	.	.	.	.	.	g	15.11	2.734986	0.48939	.	.	ENSG00000181409	ENST00000326724;ENST00000374792	T;T	0.79749	-1.3;-1.13	4.61	3.6	0.41247	.	0.288307	0.27495	N	0.019117	T	0.81317	0.4797	M	0.75777	2.31	0.24291	N	0.99516	P	0.52316	0.952	P	0.45913	0.497	T	0.74780	-0.3549	10	0.87932	D	0	.	11.1383	0.48388	0.0:0.0:0.4912:0.5088	.	417	Q6ZMQ8	LMTK1_HUMAN	V	417	ENSP00000324196:L417V;ENSP00000363924:L417V	ENSP00000324196:L417V	L	-	1	2	AATK	76711082	0.329000	0.24696	0.834000	0.33040	0.620000	0.37586	0.644000	0.24766	0.860000	0.35481	0.457000	0.33378	CTG	AATK	-	NULL		0.751	AATK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AATK	HGNC	protein_coding	OTTHUMT00000256055.1	G	NM_004920		79096487	-1	no_errors	ENST00000326724	ensembl	human	known	70_37	missense	SNP	0.257	C
ACAD11	84129	genome.wustl.edu	37	3	132294631	132294631	+	Silent	SNP	C	C	T			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr3:132294631C>T	ENST00000264990.6	-	17	2957	c.1986G>A	c.(1984-1986)aaG>aaA	p.K662K	ACAD11_ENST00000545291.1_Silent_p.K187K|ACAD11_ENST00000355458.3_Intron	NM_032169.4	NP_115545	Q709F0	ACD11_HUMAN	acyl-CoA dehydrogenase family, member 11	662					fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)	mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|peroxisome (GO:0005777)	flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)|medium-chain-acyl-CoA dehydrogenase activity (GO:0070991)|transferase activity, transferring phosphorus-containing groups (GO:0016772)|very-long-chain-acyl-CoA dehydrogenase activity (GO:0017099)			breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	36						CATACAACTTCTTCTTGAAAG	0.438																																																	0													97.0	92.0	93.0					3																	132294631		2203	4300	6503	SO:0001819	synonymous_variant	84129			BC019607	CCDS3074.1	3q22.1	2010-04-30	2010-04-30		ENSG00000240303	ENSG00000240303			30211	protein-coding gene	gene with protein product		614288	"""acyl-Coenzyme A dehydrogenase family, member 11"""				Standard	NM_032169		Approved	FLJ12592		Q709F0	OTTHUMG00000159780	ENST00000264990.6:c.1986G>A	3.37:g.132294631C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q08AF0|Q658N9|Q658Y2|Q6ZND2|Q8WUT6|Q9H9R3	Silent	SNP	pfam_Aminoglycoside_PTrfase,pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,pfam_Acyl-CoA_DH_N,superfamily_AcylCoA_DH/oxidase,superfamily_AcylCo_DH/oxidase_C,superfamily_Kinase-like_dom	p.K662	ENST00000264990.6	37	c.1986	CCDS3074.1	3																																																																																			ACAD11	-	pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCo_DH/oxidase_C		0.438	ACAD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACAD11	HGNC	protein_coding	OTTHUMT00000357279.2	C	NM_032169		132294631	-1	no_errors	ENST00000264990	ensembl	human	known	70_37	silent	SNP	1.000	T
ACOX1	51	genome.wustl.edu	37	17	73975168	73975168	+	5'UTR	SNP	T	T	G			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr17:73975168T>G	ENST00000301608.4	-	0	47				ACOX1_ENST00000293217.5_5'UTR|ACOX1_ENST00000537812.1_5'UTR|TEN1_ENST00000588202.1_5'Flank|TEN1_ENST00000397640.1_5'Flank|TEN1-CDK3_ENST00000567351.1_RNA|ACOX1_ENST00000591857.1_5'UTR|TEN1_ENST00000416485.1_5'Flank	NM_007292.5	NP_009223.2	Q15067	ACOX1_HUMAN	acyl-CoA oxidase 1, palmitoyl						alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|fatty acid oxidation (GO:0019395)|generation of precursor metabolites and energy (GO:0006091)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|peroxisome fission (GO:0016559)|positive regulation of cholesterol homeostasis (GO:2000189)|prostaglandin metabolic process (GO:0006693)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)|FAD binding (GO:0071949)|fatty acid binding (GO:0005504)|flavin adenine dinucleotide binding (GO:0050660)|palmitoyl-CoA oxidase activity (GO:0016401)|PDZ domain binding (GO:0030165)|protein N-terminus binding (GO:0047485)|receptor binding (GO:0005102)			large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1)	14					Flavin adenine dinucleotide(DB03147)	GACGACCAGCTGGCAGCGAAG	0.647																																																	0													40.0	40.0	40.0					17																	73975168		2203	4300	6503	SO:0001623	5_prime_UTR_variant	51			U03254	CCDS11734.1, CCDS11735.1	17q25.1	2012-10-04	2010-04-30		ENSG00000161533	ENSG00000161533	1.3.3.6		119	protein-coding gene	gene with protein product		609751	"""acyl-Coenzyme A oxidase 1, palmitoyl"""			8159712	Standard	NM_007292		Approved	PALMCOX	uc002jqe.3	Q15067	OTTHUMG00000180027	ENST00000301608.4:c.-14A>C	17.37:g.73975168T>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6X8|A8KAA0|B4DK61|F5GYQ8|Q12863|Q15068|Q15101|Q16131|Q7Z3W5|Q9UD31	RNA	SNP	-	NULL	ENST00000301608.4	37	NULL	CCDS11735.1	17																																																																																			ACOX1	-	-		0.647	ACOX1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACOX1	HGNC	protein_coding	OTTHUMT00000439503.1	T			73975168	-1	no_errors	ENST00000591857	ensembl	human	known	70_37	rna	SNP	0.000	G
ACRC	93953	genome.wustl.edu	37	X	70824020	70824021	+	Missense_Mutation	DNP	GC	GC	AG			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G|C	G|C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chrX:70824020_70824021GC>AG	ENST00000373695.1	+	7	1430_1431	c.893_894GC>AG	c.(892-894)aGC>aAG	p.S298K	ACRC_ENST00000373696.3_Missense_Mutation_p.S298K			Q96QF7	ACRC_HUMAN	acidic repeat containing	298	Asp/Ser-rich.					nucleus (GO:0005634)				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					TCCGACGACAGCAGTGATGATT	0.515																																																	0																																										SO:0001583	missense	93953			AJ311392	CCDS35326.1	Xq13.1	2010-08-05			ENSG00000147174	ENSG00000147174			15805	protein-coding gene	gene with protein product		300369					Standard	NM_052957		Approved		uc004eae.2	Q96QF7	OTTHUMG00000033327	Exception_encountered	X.37:g.70824020_70824021delinsAG	ENSP00000362799:p.Ser298Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B9EG62	Missense_Mutation	SNP	pfam_SprT-like_domain,smart_SprT-like_domain	p.S298N|p.S298R	ENST00000373695.1	37	c.893|c.894	CCDS35326.1	X																																																																																			ACRC	-	NULL		0.515	ACRC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ACRC	HGNC	protein_coding	OTTHUMT00000081856.1	G|C			70824020|70824021	+1	no_errors	ENST00000373695	ensembl	human	known	70_37	missense	SNP	0.026|0.010	A|G
ACVRL1	94	genome.wustl.edu	37	12	52309927	52309927	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr12:52309927C>T	ENST00000388922.4	+	8	1439	c.1156C>T	c.(1156-1158)Cgc>Tgc	p.R386C	ACVRL1_ENST00000550683.1_Missense_Mutation_p.R400C|ACVRL1_ENST00000419526.2_Missense_Mutation_p.R212C	NM_000020.2	NP_000011.2	P37023	ACVL1_HUMAN	activin A receptor type II-like 1	386	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|angiogenesis (GO:0001525)|artery development (GO:0060840)|blood circulation (GO:0008015)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|blood vessel maturation (GO:0001955)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|cellular response to transforming growth factor beta stimulus (GO:0071560)|endothelial tube morphogenesis (GO:0061154)|in utero embryonic development (GO:0001701)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of focal adhesion assembly (GO:0051895)|positive regulation of angiogenesis (GO:0045766)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of blood pressure (GO:0008217)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of DNA replication (GO:0006275)|regulation of endothelial cell proliferation (GO:0001936)|regulation of transcription, DNA-templated (GO:0006355)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|venous blood vessel development (GO:0060841)|wound healing, spreading of epidermal cells (GO:0035313)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	activin binding (GO:0048185)|activin receptor activity, type I (GO:0016361)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type I (GO:0005025)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	CGAGCAGATCCGCACGGACTG	0.607																																																	0													103.0	87.0	92.0					12																	52309927		2203	4300	6503	SO:0001583	missense	94			L17075	CCDS31804.1	12q13.13	2014-09-17			ENSG00000139567	ENSG00000139567			175	protein-coding gene	gene with protein product		601284		ACVRLK1, ORW2		8397373, 8640225	Standard	NM_000020		Approved	HHT2, ALK1, HHT	uc001rzk.3	P37023	OTTHUMG00000169507	ENST00000388922.4:c.1156C>T	12.37:g.52309927C>T	ENSP00000373574:p.Arg386Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NGA8	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Activin_II/TGFBeta-II_recpt	p.R400C	ENST00000388922.4	37	c.1198	CCDS31804.1	12	.	.	.	.	.	.	.	.	.	.	C	16.58	3.162791	0.57368	.	.	ENSG00000139567	ENST00000388922;ENST00000267008;ENST00000550683;ENST00000548659;ENST00000419526	D;D;D	0.93712	-3.27;-3.27;-3.27	4.98	4.98	0.66077	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.45361	D	0.000370	D	0.95230	0.8453	L	0.48260	1.515	0.80722	D	1	B;D	0.76494	0.042;0.999	B;D	0.67725	0.036;0.953	D	0.95541	0.8612	10	0.87932	D	0	.	18.4442	0.90678	0.0:1.0:0.0:0.0	.	212;386	E7EN07;P37023	.;ACVL1_HUMAN	C	386;386;400;212;212	ENSP00000373574:R386C;ENSP00000447884:R400C;ENSP00000392492:R212C	ENSP00000267008:R386C	R	+	1	0	ACVRL1	50596194	1.000000	0.71417	1.000000	0.80357	0.328000	0.28507	5.906000	0.69900	2.763000	0.94921	0.563000	0.77884	CGC	ACVRL1	-	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,pfscan_Prot_kinase_cat_dom		0.607	ACVRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACVRL1	HGNC	protein_coding	OTTHUMT00000404520.2	C			52309927	+1	no_errors	ENST00000550683	ensembl	human	known	70_37	missense	SNP	1.000	T
ADAM12	8038	genome.wustl.edu	37	10	127786985	127786985	+	Splice_Site	SNP	C	C	T			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr10:127786985C>T	ENST00000368679.4	-	10	1314	c.1005G>A	c.(1003-1005)atG>atA	p.M335I	ADAM12_ENST00000368676.4_Splice_Site_p.M335I	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	335	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cell adhesion (GO:0007155)|epidermal growth factor receptor signaling pathway (GO:0007173)|myoblast fusion (GO:0007520)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		CTTGGCTTACCATGACAATTC	0.473																																																	0													165.0	153.0	157.0					10																	127786985		2203	4300	6503	SO:0001630	splice_region_variant	8038			AF023476	CCDS7653.1, CCDS7654.1	10q26	2008-07-29	2008-07-29		ENSG00000148848	ENSG00000148848		"""ADAM metallopeptidase domain containing"""	190	protein-coding gene	gene with protein product	"""meltrin alpha"""	602714	"""a disintegrin and metalloproteinase domain 12 (meltrin alpha)"""			9417060, 18342566	Standard	NM_003474		Approved	MCMPMltna, MLTN	uc001ljk.2	O43184	OTTHUMG00000019243	ENST00000368679.4:c.1005+1G>A	10.37:g.127786985C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	O60470|Q5JRP0|Q5JRP1|Q6P9E3|Q6UWB0	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,prints_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B	p.M335I	ENST00000368679.4	37	c.1005	CCDS7653.1	10	.	.	.	.	.	.	.	.	.	.	C	29.5	5.009081	0.93346	.	.	ENSG00000148848	ENST00000368679;ENST00000368676	D;D	0.86297	-2.1;-2.1	4.83	4.83	0.62350	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	D	0.92890	0.7738	M	0.70903	2.155	0.80722	D	1	D;D;D;D;D	0.76494	0.991;0.988;0.997;0.997;0.999	D;D;D;D;D	0.87578	0.989;0.981;0.993;0.993;0.998	D	0.92348	0.5887	9	.	.	.	.	18.4753	0.90790	0.0:1.0:0.0:0.0	.	332;332;335;332;335	A8K6G4;O43184-3;O43184-2;O43184-4;O43184	.;.;.;.;ADA12_HUMAN	I	335	ENSP00000357668:M335I;ENSP00000357665:M335I	.	M	-	3	0	ADAM12	127776975	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	7.502000	0.81614	2.655000	0.90218	0.655000	0.94253	ATG	ADAM12	-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B		0.473	ADAM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM12	HGNC	protein_coding	OTTHUMT00000050961.1	C		Missense_Mutation	127786985	-1	no_errors	ENST00000368679	ensembl	human	known	70_37	missense	SNP	1.000	T
ADAM7	8756	genome.wustl.edu	37	8	24350098	24350098	+	Missense_Mutation	SNP	C	C	A			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr8:24350098C>A	ENST00000175238.6	+	15	1726	c.1643C>A	c.(1642-1644)cCc>cAc	p.P548H	RP11-561E1.1_ENST00000519364.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000380789.1_Missense_Mutation_p.P548H|RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000520720.1_Missense_Mutation_p.P320H	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	548	Cys-rich.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		AGATTTCTTCCCTGTGAGGAG	0.388																																																	0													83.0	90.0	88.0					8																	24350098		2203	4300	6503	SO:0001583	missense	8756			AF090327	CCDS6045.1	8p21.2	2005-08-18	2005-08-18		ENSG00000069206	ENSG00000069206		"""ADAM metallopeptidase domain containing"""	214	protein-coding gene	gene with protein product		607310	"""a disintegrin and metalloproteinase domain 7"""				Standard	NM_003817		Approved	GP-83, EAPI	uc003xeb.3	Q9H2U9	OTTHUMG00000097859	ENST00000175238.6:c.1643C>A	8.37:g.24350098C>A	ENSP00000175238:p.Pro548His	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K8X7|O75959|Q6PEJ6	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.P548H	ENST00000175238.6	37	c.1643	CCDS6045.1	8	.	.	.	.	.	.	.	.	.	.	C	13.11	2.138682	0.37728	.	.	ENSG00000069206	ENST00000175238;ENST00000380789;ENST00000520720;ENST00000335595	T;T;T	0.23147	1.92;1.92;1.92	5.54	4.66	0.58398	ADAM, cysteine-rich (2);	0.594424	0.16099	N	0.229678	T	0.55878	0.1948	M	0.90759	3.145	0.31053	N	0.715005	D;D	0.76494	0.999;0.993	D;D	0.66196	0.942;0.942	T	0.66097	-0.6008	10	0.87932	D	0	.	12.179	0.54202	0.0:0.9172:0.0:0.0828	.	320;548	E5RK87;Q9H2U9	.;ADAM7_HUMAN	H	548;548;320;363	ENSP00000175238:P548H;ENSP00000370166:P548H;ENSP00000430400:P320H	ENSP00000175238:P548H	P	+	2	0	ADAM7	24405988	0.128000	0.22383	0.285000	0.24819	0.396000	0.30629	2.867000	0.48428	1.362000	0.46000	0.456000	0.33151	CCC	ADAM7	-	pfam_ADAM_Cys-rich,smart_ADAM_Cys-rich		0.388	ADAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM7	HGNC	protein_coding	OTTHUMT00000215150.1	C	NM_003817		24350098	+1	no_errors	ENST00000175238	ensembl	human	known	70_37	missense	SNP	0.615	A
AZIN2	113451	genome.wustl.edu	37	1	33547748	33547748	+	Intron	SNP	G	G	A			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr1:33547748G>A	ENST00000294517.6	+	4	515				ADC_ENST00000398167.1_Intron|ADC_ENST00000373441.1_5'Flank|ADC_ENST00000373443.3_Intron|ADC_ENST00000373440.1_5'Flank|ADC_ENST00000484656.1_3'UTR|ADC_ENST00000358680.3_Intron	NM_052998.2	NP_443724.1	Q96A70	AZIN2_HUMAN							agmatine biosynthetic process (GO:0097055)|cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of protein catabolic process (GO:0042177)|ornithine metabolic process (GO:0006591)|polyamine biosynthetic process (GO:0006596)|polyamine metabolic process (GO:0006595)|positive regulation of catalytic activity (GO:0043085)|positive regulation of polyamine transmembrane transport (GO:1902269)|putrescine transport (GO:0015847)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|trans-Golgi network membrane organization (GO:0098629)	axon (GO:0030424)|cis-Golgi network (GO:0005801)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116)|granular vesicle (GO:1990005)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)	catalytic activity (GO:0003824)|ornithine decarboxylase activator activity (GO:0042978)|putrescine transmembrane transporter activity (GO:0015489)			NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)			L-Arginine(DB00125)	CGGCCCCCCAGCGGTTCCCTT	0.682																																																	0																																										SO:0001627	intron_variant	0																														ENST00000294517.6:c.-72-31G>A	1.37:g.33547748G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RDU5|D3DPQ9|Q5TIF4|Q5TIF5|Q5TIF6|Q8TF56|Q96L54|Q96L55|Q96L56|Q96L57|Q96MD9	RNA	SNP	-	NULL	ENST00000294517.6	37	NULL	CCDS375.1	1																																																																																			ADC	-	-		0.682	ADC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ADC	HGNC	protein_coding	OTTHUMT00000011867.1	G			33547748	+1	no_errors	ENST00000484656	ensembl	human	known	70_37	rna	SNP	0.001	A
ADO	84890	genome.wustl.edu	37	10	64565423	64565423	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr10:64565423G>A	ENST00000373783.1	+	1	908	c.604G>A	c.(604-606)Gcc>Acc	p.A202T	RP11-436D10.3_ENST00000425290.1_RNA	NM_032804.5	NP_116193.2	Q96SZ5	AEDO_HUMAN	2-aminoethanethiol (cysteamine) dioxygenase	202						mitochondrion (GO:0005739)	cysteamine dioxygenase activity (GO:0047800)|metal ion binding (GO:0046872)			lung(2)	2	Prostate(12;0.0297)|all_hematologic(501;0.228)					GGAAGGGCCTGCCGCCTTCCT	0.701																																																	0													27.0	25.0	25.0					10																	64565423		2199	4297	6496	SO:0001583	missense	84890			BC028589	CCDS7266.2	10q21.3	2007-08-28	2007-08-28	2007-08-28	ENSG00000181915	ENSG00000181915	1.13.11.19		23506	protein-coding gene	gene with protein product	"""cysteamine dioxygenase"""	611392	"""chromosome 10 open reading frame 22"""	C10orf22		17581819	Standard	NM_032804		Approved	FLJ14547	uc001jmg.3	Q96SZ5	OTTHUMG00000018306	ENST00000373783.1:c.604G>A	10.37:g.64565423G>A	ENSP00000362888:p.Ala202Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	B1AL29	Missense_Mutation	SNP	pfam_Cysteamine_dioxygenase,superfamily_RmlC_Cupin	p.A202T	ENST00000373783.1	37	c.604	CCDS7266.2	10	.	.	.	.	.	.	.	.	.	.	G	24.8	4.567580	0.86439	.	.	ENSG00000181915	ENST00000373783	T	0.54675	0.56	5.11	4.18	0.49190	Cupin, RmlC-type (1);RmlC-like jelly roll fold (1);	0.256048	0.38720	N	0.001593	T	0.49389	0.1554	L	0.31120	0.905	0.47584	D	0.999465	B	0.32302	0.363	P	0.44647	0.456	T	0.38415	-0.9662	10	0.21540	T	0.41	-16.8962	13.5807	0.61901	0.0:0.0:0.8429:0.1571	.	202	Q96SZ5	AEDO_HUMAN	T	202	ENSP00000362888:A202T	ENSP00000362888:A202T	A	+	1	0	ADO	64235429	1.000000	0.71417	0.966000	0.40874	0.993000	0.82548	5.099000	0.64554	1.089000	0.41292	0.655000	0.94253	GCC	ADO	-	pfam_Cysteamine_dioxygenase,superfamily_RmlC_Cupin		0.701	ADO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADO	HGNC	protein_coding	OTTHUMT00000048243.2	G	NM_032804		64565423	+1	no_errors	ENST00000373783	ensembl	human	known	70_37	missense	SNP	0.999	A
ADRA2C	152	genome.wustl.edu	37	4	3769489	3769489	+	Missense_Mutation	SNP	G	G	T			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr4:3769489G>T	ENST00000330055.5	+	1	1365	c.1156G>T	c.(1156-1158)Gtg>Ttg	p.V386L	ADRA2C_ENST00000509482.1_Intron	NM_000683.3	NP_000674.2	P18825	ADA2C_HUMAN	adrenoceptor alpha 2C	386					activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|energy reserve metabolic process (GO:0006112)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of norepinephrine secretion (GO:0010700)|negative regulation of uterine smooth muscle contraction (GO:0070473)|platelet activation (GO:0030168)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of vasoconstriction (GO:0045907)|regulation of insulin secretion (GO:0050796)|regulation of sensory perception of pain (GO:0051930)|small molecule metabolic process (GO:0044281)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Fenoldopam(DB00800)|Iloperidone(DB04946)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Tizanidine(DB00697)|Tolazoline(DB00797)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	TGTGCTGGCTGTGGTCATGGG	0.682																																					Esophageal Squamous(12;454 628 4517 14479)												0													44.0	49.0	47.0					4																	3769489		2198	4300	6498	SO:0001583	missense	152			AY455666	CCDS47004.1	4p16.3	2013-10-22	2012-05-09		ENSG00000184160	ENSG00000184160		"""GPCR / Class A : Adrenoceptors : alpha"""	283	protein-coding gene	gene with protein product		104250	"""adrenergic, alpha-2C-, receptor"""	ADRA2L2, ADRA2RL2		1849485	Standard	NM_000683		Approved	ADRARL2	uc003ghm.3	P18825	OTTHUMG00000159830	ENST00000330055.5:c.1156G>T	4.37:g.3769489G>T	ENSP00000386069:p.Val386Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	P35369|Q9HB49	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Adren_rcpt_A2C,prints_GPCR_Rhodpsn,prints_Adrnrgc_rcpt	p.V386L	ENST00000330055.5	37	c.1156	CCDS47004.1	4	.	.	.	.	.	.	.	.	.	.	G	23.1	4.373277	0.82573	.	.	ENSG00000184160	ENST00000330055	T	0.39406	1.08	3.66	3.66	0.41972	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.61311	0.2337	M	0.67569	2.06	0.58432	D	0.999995	D	0.76494	0.999	D	0.81914	0.995	T	0.66056	-0.6018	9	0.59425	D	0.04	.	14.6034	0.68460	0.0:0.0:1.0:0.0	.	386	P18825	ADA2C_HUMAN	L	386	ENSP00000386069:V386L	ENSP00000386069:V386L	V	+	1	0	ADRA2C	3739287	1.000000	0.71417	0.939000	0.37840	0.980000	0.70556	8.638000	0.91019	1.878000	0.54408	0.603000	0.83216	GTG	ADRA2C	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.682	ADRA2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ADRA2C	HGNC	protein_coding	OTTHUMT00000357607.1	G	NM_000683		3769489	+1	no_errors	ENST00000330055	ensembl	human	known	70_37	missense	SNP	0.999	T
ADRBK2	157	genome.wustl.edu	37	22	26110434	26110434	+	Missense_Mutation	SNP	G	G	T			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr22:26110434G>T	ENST00000324198.6	+	18	1743	c.1551G>T	c.(1549-1551)tgG>tgT	p.W517C	RNA5SP494_ENST00000410653.1_RNA	NM_005160.3	NP_005151.2	P35626	ARBK2_HUMAN	adrenergic, beta, receptor kinase 2	517	AGC-kinase C-terminal.				receptor internalization (GO:0031623)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)		ATP binding (GO:0005524)|beta-adrenergic receptor kinase activity (GO:0047696)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2)	32					Adenosine triphosphate(DB00171)	CTGAACGCTGGCAGCAAGAAG	0.383																																																	0													74.0	72.0	73.0					22																	26110434		2203	4300	6503	SO:0001583	missense	157			X69117	CCDS13832.1	22q11	2013-01-10			ENSG00000100077	ENSG00000100077		"""Pleckstrin homology (PH) domain containing"""	290	protein-coding gene	gene with protein product		109636				7695743	Standard	NM_005160		Approved	GRK3, BARK2	uc003abx.4	P35626	OTTHUMG00000150280	ENST00000324198.6:c.1551G>T	22.37:g.26110434G>T	ENSP00000317578:p.Trp517Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9UGW9	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Regulat_G_prot_signal,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal,pfscan_Prot_kinase_cat_dom,prints_GPCR_kinase	p.W517C	ENST00000324198.6	37	c.1551	CCDS13832.1	22	.	.	.	.	.	.	.	.	.	.	G	18.94	3.730420	0.69074	.	.	ENSG00000100077	ENST00000324198	T	0.24350	1.86	5.44	5.44	0.79542	AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.62865	0.2463	M	0.92507	3.315	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.72077	-0.4399	10	0.87932	D	0	-18.5802	18.6268	0.91342	0.0:0.0:1.0:0.0	.	517	P35626	ARBK2_HUMAN	C	517	ENSP00000317578:W517C	ENSP00000317578:W517C	W	+	3	0	ADRBK2	24440434	1.000000	0.71417	1.000000	0.80357	0.597000	0.36814	8.968000	0.93407	2.715000	0.92844	0.655000	0.94253	TGG	ADRBK2	-	superfamily_Kinase-like_dom,smart_AGC-kinase_C,prints_GPCR_kinase		0.383	ADRBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADRBK2	HGNC	protein_coding	OTTHUMT00000317296.4	G	NM_005160		26110434	+1	no_errors	ENST00000324198	ensembl	human	known	70_37	missense	SNP	1.000	T
AGBL5	60509	genome.wustl.edu	37	2	27281371	27281371	+	Nonsense_Mutation	SNP	G	G	A			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr2:27281371G>A	ENST00000360131.4	+	10	1934	c.1775G>A	c.(1774-1776)tGg>tAg	p.W592*	AGBL5_ENST00000323064.8_Nonsense_Mutation_p.W592*|AGBL5-IT1_ENST00000411862.1_RNA	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	592					protein branching point deglutamylation (GO:0035611)|protein deglutamylation (GO:0035608)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTACGGGCCTGGATGCTGAAA	0.542																																																	0													126.0	107.0	113.0					2																	27281371		2203	4300	6503	SO:0001587	stop_gained	60509			BC007415	CCDS1732.3, CCDS42665.1	2p23.3	2014-06-23			ENSG00000084693	ENSG00000084693			26147	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 5"""	615900				24022482	Standard	NM_001035507		Approved	FLJ21839, CCP5	uc002rie.3	Q8NDL9	OTTHUMG00000128406	ENST00000360131.4:c.1775G>A	2.37:g.27281371G>A	ENSP00000353249:p.Trp592*	Somatic		WXS	Illumina HiSeq	Phase_IV	A2VDI7|B7WPG9|B7Z7I7|D6W548|Q53SW0|Q53SZ0|Q96IK8|Q9H6V0|Q9H8P8	Nonsense_Mutation	SNP	pfam_Peptidase_M14	p.W592*	ENST00000360131.4	37	c.1775	CCDS1732.3	2	.	.	.	.	.	.	.	.	.	.	G	39	7.855342	0.98528	.	.	ENSG00000084693	ENST00000323064;ENST00000360131	.	.	.	5.79	5.79	0.91817	.	0.055041	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.8204	19.635	0.95728	0.0:0.0:1.0:0.0	.	.	.	.	X	592	.	ENSP00000323681:W592X	W	+	2	0	AGBL5	27134875	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.059000	0.71133	2.733000	0.93635	0.655000	0.94253	TGG	AGBL5	-	NULL		0.542	AGBL5-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AGBL5	HGNC	protein_coding	OTTHUMT00000309033.1	G	NM_021831		27281371	+1	no_errors	ENST00000360131	ensembl	human	known	70_37	nonsense	SNP	1.000	A
AKAP12	9590	genome.wustl.edu	37	6	151673302	151673302	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr6:151673302C>T	ENST00000253332.1	+	3	3965	c.3776C>T	c.(3775-3777)tCa>tTa	p.S1259L	AKAP12_ENST00000359755.5_Missense_Mutation_p.S1154L|AKAP12_ENST00000402676.2_Missense_Mutation_p.S1259L|AKAP12_ENST00000354675.6_Missense_Mutation_p.S1161L			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	1259					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		TCCATTCTGTCAAAGACTGAG	0.423																																					Melanoma(141;1616 1805 10049 24534 51979)												0													72.0	68.0	69.0					6																	151673302		2203	4300	6503	SO:0001583	missense	9590			U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"""A-kinase anchor proteins"""	370	protein-coding gene	gene with protein product	"""gravin"", ""Src-Suppressed C Kinase Substrate"""	604698	"""A kinase (PRKA) anchor protein (gravin) 12"""			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.3776C>T	6.37:g.151673302C>T	ENSP00000253332:p.Ser1259Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Missense_Mutation	SNP	pfam_Pkinase-A_anch_WSK-motif,pfam_RII_binding_1	p.S1259L	ENST00000253332.1	37	c.3776	CCDS5229.1	6	.	.	.	.	.	.	.	.	.	.	C	9.675	1.147669	0.21288	.	.	ENSG00000131016	ENST00000402676;ENST00000253332;ENST00000354675;ENST00000359755	T;T;T;T	0.10288	2.89;2.89;2.9;2.9	5.0	3.23	0.37069	.	0.563676	0.13477	N	0.385023	T	0.01976	0.0062	N	0.19112	0.55	0.09310	N	1	B;B;B	0.11235	0.004;0.004;0.002	B;B;B	0.14578	0.011;0.011;0.005	T	0.46992	-0.9151	10	0.28530	T	0.3	.	6.7753	0.23617	0.0:0.6883:0.1462:0.1656	.	1154;1161;1259	Q02952-3;Q02952-2;Q02952	.;.;AKA12_HUMAN	L	1259;1259;1161;1154	ENSP00000384537:S1259L;ENSP00000253332:S1259L;ENSP00000346702:S1161L;ENSP00000352794:S1154L	ENSP00000253332:S1259L	S	+	2	0	AKAP12	151714995	0.000000	0.05858	0.023000	0.16930	0.006000	0.05464	0.568000	0.23623	0.531000	0.28639	-0.262000	0.10625	TCA	AKAP12	-	NULL		0.423	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AKAP12	HGNC	protein_coding	OTTHUMT00000042712.1	C			151673302	+1	no_errors	ENST00000253332	ensembl	human	known	70_37	missense	SNP	0.000	T
ALDH1L1	10840	genome.wustl.edu	37	3	125876203	125876203	+	Missense_Mutation	SNP	C	C	G			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr3:125876203C>G	ENST00000393434.2	-	4	860	c.511G>C	c.(511-513)Gaa>Caa	p.E171Q	ALDH1L1_ENST00000455064.2_5'UTR|U1_ENST00000606575.1_RNA|ALDH1L1_ENST00000393431.2_Missense_Mutation_p.E171Q|ALDH1L1_ENST00000452905.2_Intron|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.E171Q|ALDH1L1_ENST00000413612.1_5'Flank|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.E181Q	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	171	GART.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	catalytic activity (GO:0003824)|formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	TTGATGCCTTCAGGGAAGAGG	0.652																																																	0													87.0	79.0	82.0					3																	125876203		2203	4300	6503	SO:0001583	missense	10840			AF052732	CCDS3034.1, CCDS58850.1, CCDS58851.1	3q21.2	2010-07-19		2005-01-27	ENSG00000144908	ENSG00000144908	1.5.1.6	"""Aldehyde dehydrogenases"""	3978	protein-coding gene	gene with protein product	"""cytosolic 10-formyltetrahydrofolate dehydrogenase"""	600249	"""formyltetrahydrofolate dehydrogenase"""	FTHFD			Standard	NM_012190		Approved	10-fTHF	uc031sbp.1	O75891	OTTHUMG00000125551	ENST00000393434.2:c.511G>C	3.37:g.125876203C>G	ENSP00000377083:p.Glu171Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DG36|E9PBX3|Q68CS1	Missense_Mutation	SNP	pfam_Aldehyde_DH_dom,pfam_Formyl_transf_N,pfam_Formyl_trans_C,pfam_Acyl_carrier_prot-like,superfamily_Ald_DH/histidinol_DH,superfamily_Formyl_transf_N,superfamily_Formyl_transferase_C-like,superfamily_Acyl_carrier_prot-like,pirsf_10_FTHF_DH,pfscan_Acyl_carrier_prot-like	p.E171Q	ENST00000393434.2	37	c.511	CCDS3034.1	3	.	.	.	.	.	.	.	.	.	.	C	17.42	3.384084	0.61845	.	.	ENSG00000144908	ENST00000273450;ENST00000472186;ENST00000393434;ENST00000393431;ENST00000490367	T;T;T;T;T	0.80994	-1.44;-1.44;-1.44;-1.44;-1.44	4.39	4.39	0.52855	Formyl transferase, N-terminal (3);	0.000000	0.85682	D	0.000000	D	0.84183	0.5416	L	0.61036	1.89	0.80722	D	1	P;P;P	0.50272	0.933;0.896;0.828	P;B;P	0.53102	0.718;0.415;0.718	D	0.86060	0.1531	10	0.62326	D	0.03	.	14.4889	0.67637	0.0:1.0:0.0:0.0	.	223;78;171	Q59G10;Q9UFA9;O75891	.;.;AL1L1_HUMAN	Q	181;171;171;171;171	ENSP00000273450:E181Q;ENSP00000420293:E171Q;ENSP00000377083:E171Q;ENSP00000377081:E171Q;ENSP00000418711:E171Q	ENSP00000273450:E181Q	E	-	1	0	ALDH1L1	127358893	1.000000	0.71417	0.931000	0.37212	0.066000	0.16364	5.687000	0.68219	2.277000	0.76020	0.467000	0.42956	GAA	ALDH1L1	-	pfam_Formyl_transf_N,superfamily_Formyl_transf_N,pirsf_10_FTHF_DH		0.652	ALDH1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH1L1	HGNC	protein_coding	OTTHUMT00000354391.1	C	NM_012190		125876203	-1	no_errors	ENST00000393434	ensembl	human	known	70_37	missense	SNP	0.999	G
ALG8	79053	genome.wustl.edu	37	11	77850611	77850611	+	Silent	SNP	C	C	T	rs574242484		TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr11:77850611C>T	ENST00000299626.5	-	1	95	c.24G>A	c.(22-24)acG>acA	p.T8T	KCTD21-AS1_ENST00000532831.1_RNA|KCTD21-AS1_ENST00000530261.1_RNA|ALG8_ENST00000376156.3_Silent_p.T8T|KCTD21-AS1_ENST00000523626.2_RNA|ALG8_ENST00000532552.2_5'UTR|KCTD21-AS1_ENST00000500113.1_RNA|KCTD21-AS1_ENST00000527321.1_RNA	NM_024079.4	NP_076984.2	Q9BVK2	ALG8_HUMAN	ALG8, alpha-1,3-glucosyltransferase	8					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-1,3-mannosyltransferase activity (GO:0000033)			NS(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	30	all_cancers(14;3.62e-19)|all_epithelial(13;1.27e-21)|Breast(9;8.51e-17)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;9.66e-25)			TGCCAGTACCCGTGGCAATTG	0.607													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16726	0.0		0.0	False		,,,				2504	0.0																0													25.0	19.0	21.0					11																	77850611		2182	4247	6429	SO:0001819	synonymous_variant	79053			AJ224875	CCDS8258.1, CCDS41692.1	11q14.1	2013-03-01	2013-03-01		ENSG00000159063	ENSG00000159063	2.4.1.265		23161	protein-coding gene	gene with protein product	"""dolichyl-P-Glc:Glc(1)Man(9)GlcNAc(2)-PP-dolichol alpha- 1->3-glucosyltransferase"""	608103	"""asparagine-linked glycosylation 8 homolog (yeast, alpha-1,3-glucosyltransferase)"", ""asparagine-linked glycosylation 8, alpha-1,3-glucosyltransferase homolog (S. cerevisiae)"""				Standard	XM_005274247		Approved	MGC2840	uc001oza.1	Q9BVK2	OTTHUMG00000166594	ENST00000299626.5:c.24G>A	11.37:g.77850611C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NDW6|O60860	Silent	SNP	pfam_Glyco_trans_ALG6/ALG8	p.T8	ENST00000299626.5	37	c.24	CCDS8258.1	11																																																																																			ALG8	-	NULL		0.607	ALG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALG8	HGNC	protein_coding	OTTHUMT00000390637.1	C	NM_024079		77850611	-1	no_errors	ENST00000299626	ensembl	human	known	70_37	silent	SNP	0.000	T
AMN1	196394	genome.wustl.edu	37	12	31882028	31882028	+	5'UTR	SNP	G	G	A	rs114266500	byFrequency	TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr12:31882028G>A	ENST00000281471.6	-	0	80				AMN1_ENST00000541931.1_5'UTR|AMN1_ENST00000542781.1_5'Flank|AMN1_ENST00000537562.1_5'Flank|AMN1_ENST00000536761.1_5'Flank|AMN1_ENST00000541541.1_5'Flank	NM_001113402.1|NM_001278411.1|NM_001278412.1	NP_001106873.1|NP_001265340.1|NP_001265341.1	Q8IY45	AMN1_HUMAN	antagonist of mitotic exit network 1 homolog (S. cerevisiae)											breast(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(1)	7	all_cancers(9;7.41e-12)|all_epithelial(9;1.18e-11)|all_lung(12;1.14e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.162)		OV - Ovarian serous cystadenocarcinoma(6;0.0014)			CCCACCGCGCGACGCGTAGGT	0.667																																																	0																																										SO:0001623	5_prime_UTR_variant	196394				CCDS44858.1, CCDS61089.1	12p11.21	2010-07-19			ENSG00000151743	ENSG00000151743			27281	protein-coding gene	gene with protein product							Standard	NM_001113402		Approved		uc001rkq.4	Q8IY45	OTTHUMG00000169192	ENST00000281471.6:c.-86C>T	12.37:g.31882028G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z7J3|Q6NVU4|Q86X98	RNA	SNP	-	NULL	ENST00000281471.6	37	NULL	CCDS44858.1	12																																																																																			AMN1	-	-		0.667	AMN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMN1	HGNC	protein_coding	OTTHUMT00000402807.2	G	NR_004854		31882028	-1	no_errors	ENST00000509386	ensembl	human	known	70_37	rna	SNP	0.000	A
ANAPC2	29882	genome.wustl.edu	37	9	140069483	140069483	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr9:140069483C>T	ENST00000323927.2	-	13	2384	c.2380G>A	c.(2380-2382)Gag>Aag	p.E794K	ANAPC2_ENST00000487917.1_5'UTR|TMEM210_ENST00000535352.2_5'Flank|TMEM210_ENST00000413619.2_5'Flank	NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	anaphase promoting complex subunit 2	794					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)		CCCTGCAGCTCCTGCAGGTCA	0.607																																																	0													28.0	27.0	27.0					9																	140069483		2193	4292	6485	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.2380G>A	9.37:g.140069483C>T	ENSP00000314004:p.Glu794Lys	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.E794K	ENST00000323927.2	37	c.2380	CCDS7033.1	9	.	.	.	.	.	.	.	.	.	.	C	33	5.245170	0.95272	.	.	ENSG00000176248	ENST00000323927	T	0.80566	-1.39	4.22	4.22	0.49857	Winged helix-turn-helix transcription repressor DNA-binding (1);Anaphase-promoting complex subunit 2, C-terminal (1);	0.056820	0.64402	D	0.000001	D	0.89107	0.6621	M	0.80847	2.515	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.75484	0.986;0.977	D	0.90263	0.4302	10	0.59425	D	0.04	-27.1153	14.1099	0.65115	0.0:1.0:0.0:0.0	.	794;791	Q9UJX6;Q9UJX6-2	ANC2_HUMAN;.	K	794	ENSP00000314004:E794K	ENSP00000314004:E794K	E	-	1	0	ANAPC2	139189304	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	6.834000	0.75339	2.175000	0.68902	0.561000	0.74099	GAG	ANAPC2	-	pfam_APC_su2_C		0.607	ANAPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANAPC2	HGNC	protein_coding	OTTHUMT00000055315.1	C	NM_013366		140069483	-1	no_errors	ENST00000323927	ensembl	human	known	70_37	missense	SNP	1.000	T
APOB	338	genome.wustl.edu	37	2	21228795	21228795	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr2:21228795C>T	ENST00000233242.1	-	26	11072	c.10945G>A	c.(10945-10947)Gag>Aag	p.E3649K		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3649					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTGGAAAGCTCGACCTGGCTC	0.458																																																	0													71.0	69.0	69.0					2																	21228795		2203	4300	6503	SO:0001583	missense	338			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.10945G>A	2.37:g.21228795C>T	ENSP00000233242:p.Glu3649Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.E3649K	ENST00000233242.1	37	c.10945	CCDS1703.1	2	.	.	.	.	.	.	.	.	.	.	C	11.34	1.610519	0.28712	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.66638	-0.22	5.75	3.93	0.45458	.	0.226096	0.30820	N	0.008814	T	0.45135	0.1327	N	0.14661	0.345	0.28289	N	0.923637	B	0.19583	0.037	B	0.10450	0.005	T	0.25537	-1.0129	10	0.14252	T	0.57	.	10.8474	0.46751	0.0:0.3007:0.5738:0.1255	.	3649	P04114	APOB_HUMAN	K	3649	ENSP00000233242:E3649K	ENSP00000233242:E3649K	E	-	1	0	APOB	21082300	0.963000	0.33076	0.476000	0.27291	0.232000	0.25224	2.420000	0.44679	0.752000	0.32923	0.655000	0.94253	GAG	APOB	-	NULL		0.458	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	HGNC	protein_coding	OTTHUMT00000207571.1	C			21228795	-1	no_errors	ENST00000233242	ensembl	human	known	70_37	missense	SNP	0.245	T
ARFGAP2	84364	genome.wustl.edu	37	11	47188066	47188066	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr11:47188066G>A	ENST00000524782.1	-	14	1645	c.1417C>T	c.(1417-1419)Cac>Tac	p.H473Y	ARFGAP2_ENST00000395449.3_5'UTR|ARFGAP2_ENST00000426335.2_Missense_Mutation_p.H337Y|RP11-390K5.6_ENST00000524412.1_RNA|ARFGAP2_ENST00000419701.2_Missense_Mutation_p.H366Y|ARFGAP2_ENST00000319543.6_Missense_Mutation_p.H204Y	NM_001242832.1|NM_032389.4	NP_001229761.1|NP_115765.2	Q8N6H7	ARFG2_HUMAN	ADP-ribosylation factor GTPase activating protein 2	473	Required for interaction with coatomer.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			breast(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						CCTGCTCCGTGAGCTCCATCC	0.637																																																	0													40.0	40.0	40.0					11																	47188066		2201	4299	6500	SO:0001583	missense	84364			AK027482	CCDS7926.1, CCDS73283.1	11p11.2-p11.12	2012-10-05	2008-01-09	2008-01-09	ENSG00000149182	ENSG00000149182		"""ADP-ribosylation factor GTPase activating proteins"""	13504	protein-coding gene	gene with protein product		606908	"""zinc finger protein 289, ID1 regulated"""	ZNF289		11278321, 14690497	Standard	NM_032389		Approved	IRZ, Zfp289, FLJ14576	uc001ndt.3	Q8N6H7	OTTHUMG00000166773	ENST00000524782.1:c.1417C>T	11.37:g.47188066G>A	ENSP00000434442:p.His473Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DX29|B7Z9M7|D3DQQ9|Q3LIF2|Q8N3I1|Q96SX7	Missense_Mutation	SNP	pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP	p.H473Y	ENST00000524782.1	37	c.1417	CCDS7926.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.13|14.13	2.442575|2.442575	0.43326|0.43326	.|.	.|.	ENSG00000149182|ENSG00000149182	ENST00000426335;ENST00000524782;ENST00000319543;ENST00000419701|ENST00000527776	T;T;T;T|.	0.08282|.	3.4;3.54;3.11;3.27|.	5.72|5.72	4.81|4.81	0.61882|0.61882	.|.	0.474372|.	0.25402|.	N|.	0.030939|.	T|T	0.43722|0.43722	0.1260|0.1260	L|L	0.55481|0.55481	1.735|1.735	0.22926|0.22926	N|N	0.998558|0.998558	P;P;B|.	0.47106|.	0.89;0.669;0.048|.	B;B;B|.	0.40506|.	0.331;0.093;0.027|.	T|T	0.35226|0.35226	-0.9797|-0.9797	10|5	0.72032|.	D|.	0.01|.	-1.0314|-1.0314	7.4979|7.4979	0.27500|0.27500	0.0822:0.0:0.7506:0.1672|0.0822:0.0:0.7506:0.1672	.|.	366;337;473|.	B4DX29;G5E9L0;Q8N6H7|.	.;.;ARFG2_HUMAN|.	Y|L	337;473;204;366|194	ENSP00000400226:H337Y;ENSP00000434442:H473Y;ENSP00000327309:H204Y;ENSP00000389264:H366Y|.	ENSP00000327309:H204Y|.	H|S	-|-	1|2	0|0	ARFGAP2|ARFGAP2	47144642|47144642	0.768000|0.768000	0.28519|0.28519	0.996000|0.996000	0.52242|0.52242	0.866000|0.866000	0.49608|0.49608	1.548000|1.548000	0.36201|0.36201	1.400000|1.400000	0.46741|0.46741	0.655000|0.655000	0.94253|0.94253	CAC|TCA	ARFGAP2	-	NULL		0.637	ARFGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARFGAP2	HGNC	protein_coding	OTTHUMT00000391425.1	G	NM_032389		47188066	-1	no_errors	ENST00000524782	ensembl	human	known	70_37	missense	SNP	0.971	A
ARAP1	116985	genome.wustl.edu	37	11	72422481	72422481	+	Silent	SNP	A	A	G			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr11:72422481A>G	ENST00000393609.3	-	8	1288	c.1086T>C	c.(1084-1086)agT>agC	p.S362S	ARAP1_ENST00000426523.1_Silent_p.S117S|ARAP1_ENST00000455638.2_Silent_p.S362S|ARAP1_ENST00000359373.5_Silent_p.S362S|ARAP1_ENST00000393605.3_Silent_p.S122S|ARAP1_ENST00000334211.8_Silent_p.S117S|ARAP1_ENST00000429686.1_Silent_p.S117S	NM_001040118.2	NP_001035207.1	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	362	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin filament reorganization involved in cell cycle (GO:0030037)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of receptor recycling (GO:0001921)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of cellular component movement (GO:0051270)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						TCACCTTGTTACTGTCAAAGT	0.572																																					Ovarian(102;1198 1520 13195 17913 37529)												0													140.0	119.0	126.0					11																	72422481		2200	4293	6493	SO:0001819	synonymous_variant	116985			AF411983	CCDS8217.2, CCDS41687.1, CCDS44671.1	11q13.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000186635	ENSG00000186635		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16925	protein-coding gene	gene with protein product		606646	"""centaurin, delta 2"""	CENTD2			Standard	NM_001040118		Approved		uc001osu.3	Q96P48	OTTHUMG00000157102	ENST00000393609.3:c.1086T>C	11.37:g.72422481A>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A3KLL7|B2RTS2|O94879|Q4LDD5|Q59FI7|Q6PHS3|Q8WU51|Q96HP6|Q96L71	Silent	SNP	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_Ras-assoc,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP	p.S362	ENST00000393609.3	37	c.1086	CCDS41687.1	11																																																																																			ARAP1	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.572	ARAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARAP1	HGNC	protein_coding	OTTHUMT00000347428.1	A	NM_001040118		72422481	-1	no_errors	ENST00000393609	ensembl	human	known	70_37	silent	SNP	1.000	G
ARHGEF10L	55160	genome.wustl.edu	37	1	18023599	18023599	+	Silent	SNP	C	C	T			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr1:18023599C>T	ENST00000361221.3	+	29	3723	c.3564C>T	c.(3562-3564)ctC>ctT	p.L1188L	ARHGEF10L_ENST00000452522.1_Silent_p.L1149L|ARHGEF10L_ENST00000167825.4_Silent_p.L891L|ARHGEF10L_ENST00000375415.1_Silent_p.L1149L|ARHGEF10L_ENST00000375408.3_Silent_p.L961L|ARHGEF10L_ENST00000469726.1_3'UTR	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	1188						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		GCCCGCTGCTCTCCATGCGGG	0.677																																																	0													13.0	14.0	14.0					1																	18023599		2188	4283	6471	SO:0001819	synonymous_variant	55160			AB046846	CCDS182.1, CCDS30617.1	1p36.13	2011-11-16			ENSG00000074964	ENSG00000074964		"""Rho guanine nucleotide exchange factors"""	25540	protein-coding gene	gene with protein product	"""GrinchGEF"""	612494				10997877, 16112081	Standard	XM_005245923		Approved	FLJ10521, KIAA1626	uc001ban.3	Q9HCE6	OTTHUMG00000002514	ENST00000361221.3:c.3564C>T	1.37:g.18023599C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZKS1|Q17RW1|Q3YFJ4|Q5VXI5|Q5VXI6|Q66K51|Q6P0L7|Q8NAV5|Q9NVT3	Silent	SNP	pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,smart_DH-domain,pfscan_DH-domain	p.L1188	ENST00000361221.3	37	c.3564	CCDS182.1	1																																																																																			ARHGEF10L	-	NULL		0.677	ARHGEF10L-001	KNOWN	basic|CCDS	protein_coding	ARHGEF10L	HGNC	protein_coding	OTTHUMT00000007147.1	C	NM_018125		18023599	+1	no_errors	ENST00000361221	ensembl	human	known	70_37	silent	SNP	0.887	T
ARHGEF15	22899	genome.wustl.edu	37	17	8222400	8222400	+	Silent	SNP	A	A	G			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr17:8222400A>G	ENST00000361926.3	+	13	2219	c.2109A>G	c.(2107-2109)ggA>ggG	p.G703G	AC135178.7_ENST00000458568.1_RNA|ARHGEF15_ENST00000582060.1_3'UTR|ARHGEF15_ENST00000421050.1_Silent_p.G703G	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	703					negative regulation of synapse maturation (GO:2000297)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|regulation of catalytic activity (GO:0050790)|retina vasculature morphogenesis in camera-type eye (GO:0061299)	cytoplasm (GO:0005737)|dendrite (GO:0030425)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						ATCCATCTGGACCCCCTACCT	0.607																																																	0													83.0	88.0	86.0					17																	8222400		2203	4300	6503	SO:0001819	synonymous_variant	22899			AB020722	CCDS11139.1	17p13.1	2011-11-16			ENSG00000198844	ENSG00000198844		"""Rho guanine nucleotide exchange factors"""	15590	protein-coding gene	gene with protein product	"""Rho guanine exchange factor (GEF) 15"""	608504				10048485	Standard	NM_173728		Approved	KIAA0915, Vsm-RhoGEF, ARGEF15, FLJ13791, MGC44868	uc002glc.3	O94989	OTTHUMG00000108187	ENST00000361926.3:c.2109A>G	17.37:g.8222400A>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6G1|Q8N449|Q9H8B4	Silent	SNP	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	p.G703	ENST00000361926.3	37	c.2109	CCDS11139.1	17																																																																																			ARHGEF15	-	NULL		0.607	ARHGEF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF15	HGNC	protein_coding	OTTHUMT00000226993.2	A	NM_173728		8222400	+1	no_errors	ENST00000361926	ensembl	human	known	70_37	silent	SNP	0.942	G
ARID5A	10865	genome.wustl.edu	37	2	97217767	97217767	+	Missense_Mutation	SNP	G	G	T			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr2:97217767G>T	ENST00000357485.3	+	7	1580	c.1502G>T	c.(1501-1503)aGg>aTg	p.R501M	ARID5A_ENST00000454558.2_Missense_Mutation_p.R433M	NM_212481.1	NP_997646.1	Q03989	ARI5A_HUMAN	AT rich interactive domain 5A (MRF1-like)	501					chondrocyte differentiation (GO:0002062)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2)	14						GAGGCCTACAGGGGCACCATG	0.692																																																	0													23.0	28.0	26.0					2																	97217767		2203	4299	6502	SO:0001583	missense	10865			M62324	CCDS33251.1	2p11.1	2013-02-07			ENSG00000196843	ENSG00000196843		"""-"""	17361	protein-coding gene	gene with protein product	"""modulator recognition factor 1"""	611583				8649988	Standard	NM_212481		Approved	MRF-1, RP11-363D14	uc002swe.3	Q03989	OTTHUMG00000155229	ENST00000357485.3:c.1502G>T	2.37:g.97217767G>T	ENSP00000350078:p.Arg501Met	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6NX37	Missense_Mutation	SNP	pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.R501M	ENST00000357485.3	37	c.1502	CCDS33251.1	2	.	.	.	.	.	.	.	.	.	.	G	12.09	1.833381	0.32421	.	.	ENSG00000196843	ENST00000357485;ENST00000359765;ENST00000454558	T	0.67698	-0.28	4.78	2.98	0.34508	.	0.240415	0.29884	N	0.010942	T	0.70037	0.3178	M	0.63428	1.95	0.39754	D	0.971931	D;D;P	0.69078	0.997;0.975;0.914	P;P;P	0.55667	0.781;0.466;0.466	T	0.72984	-0.4125	10	0.87932	D	0	-40.1388	6.8847	0.24193	0.204:0.0:0.796:0.0	.	501;433;501	A6NM59;C9J1Q0;Q03989	.;.;ARI5A_HUMAN	M	501;501;433	ENSP00000350078:R501M	ENSP00000350078:R501M	R	+	2	0	ARID5A	96581494	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	1.616000	0.36933	1.376000	0.46267	-0.143000	0.13931	AGG	ARID5A	-	NULL		0.692	ARID5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID5A	HGNC	protein_coding	OTTHUMT00000338888.2	G	NM_212481		97217767	+1	no_errors	ENST00000357485	ensembl	human	known	70_37	missense	SNP	1.000	T
ARPP21	10777	genome.wustl.edu	37	3	35778726	35778726	+	Nonsense_Mutation	SNP	C	C	T			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr3:35778726C>T	ENST00000187397.4	+	16	1972	c.1516C>T	c.(1516-1518)Cag>Tag	p.Q506*	ARPP21_ENST00000458225.1_Nonsense_Mutation_p.Q472*|ARPP21_ENST00000417925.1_Nonsense_Mutation_p.Q472*|ARPP21_ENST00000337271.5_Nonsense_Mutation_p.Q452*|ARPP21_ENST00000444190.1_Nonsense_Mutation_p.Q452*	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	506	Gln-rich.				cellular response to heat (GO:0034605)	cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						ACCCACCAGTCAGCAGCCCCT	0.602																																																	0													56.0	64.0	61.0					3																	35778726		2203	4300	6503	SO:0001587	stop_gained	10777			AA733082	CCDS2661.1, CCDS43063.1, CCDS58823.1, CCDS58824.1	3p24.3	2010-08-12			ENSG00000172995	ENSG00000172995			16968	protein-coding gene	gene with protein product	"""R3H domain containing 3"""	605488				8120638	Standard	NM_198399		Approved	ARPP-21, TARPP, R3HDM3	uc011axy.2	Q9UBL0	OTTHUMG00000130795	ENST00000187397.4:c.1516C>T	3.37:g.35778726C>T	ENSP00000187397:p.Gln506*	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DG96|Q49AK3|Q49AS6|Q4G0V4|Q6NYC3|Q86V31|Q9UF93	Nonsense_Mutation	SNP	pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd	p.Q472*	ENST00000187397.4	37	c.1414	CCDS2661.1	3	.	.	.	.	.	.	.	.	.	.	C	39	7.441318	0.98286	.	.	ENSG00000172995	ENST00000458225;ENST00000337271;ENST00000444190;ENST00000187397;ENST00000417925	.	.	.	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-11.401	20.3053	0.98627	0.0:1.0:0.0:0.0	.	.	.	.	X	472;452;452;506;472	.	ENSP00000187397:Q506X	Q	+	1	0	ARPP21	35753730	1.000000	0.71417	0.987000	0.45799	0.795000	0.44927	5.680000	0.68168	2.808000	0.96608	0.655000	0.94253	CAG	ARPP21	-	NULL		0.602	ARPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARPP21	HGNC	protein_coding	OTTHUMT00000253334.2	C	NM_198399		35778726	+1	no_errors	ENST00000417925	ensembl	human	known	70_37	nonsense	SNP	1.000	T
ASNSD1	54529	genome.wustl.edu	37	2	190531026	190531026	+	Missense_Mutation	SNP	G	G	T			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr2:190531026G>T	ENST00000260952.4	+	4	581	c.168G>T	c.(166-168)ttG>ttT	p.L56F	ASNSD1_ENST00000607829.1_3'UTR|ASNSD1_ENST00000607062.1_Intron|ASNSD1_ENST00000607535.1_3'UTR|ASNSD1_ENST00000607690.1_3'UTR	NM_019048.2	NP_061921	Q9NWL6	ASND1_HUMAN	asparagine synthetase domain containing 1	56	Glutamine amidotransferase type-2. {ECO:0000255|PROSITE-ProRule:PRU00609}.				asparagine biosynthetic process (GO:0006529)|glutamine metabolic process (GO:0006541)		asparagine synthase (glutamine-hydrolyzing) activity (GO:0004066)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)			TCCTACACTTGAGGGGTGTTT	0.383																																																	0													133.0	135.0	134.0					2																	190531026		2203	4300	6503	SO:0001583	missense	54529			AY116969	CCDS2300.1	2q32.2	2012-09-20			ENSG00000138381	ENSG00000138381			24910	protein-coding gene	gene with protein product							Standard	NM_019048		Approved	NS3TP1, FLJ20752, NBLA00058	uc002uqt.3	Q9NWL6	OTTHUMG00000132665	ENST00000260952.4:c.168G>T	2.37:g.190531026G>T	ENSP00000260952:p.Leu56Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DPH6|Q3LIC3|Q4ZG45	Missense_Mutation	SNP	pfam_Asn_synthase	p.L56F	ENST00000260952.4	37	c.168	CCDS2300.1	2	.	.	.	.	.	.	.	.	.	.	G	11.15	1.552782	0.27739	.	.	ENSG00000138381	ENST00000260952;ENST00000425590;ENST00000420250	T;T	0.44083	0.93;0.94	5.86	0.075	0.14397	Glutamine amidotransferase, type II (1);	0.104089	0.64402	D	0.000006	T	0.38983	0.1061	M	0.86573	2.825	0.42641	D	0.993414	B	0.29508	0.246	B	0.26094	0.066	T	0.28933	-1.0028	10	0.52906	T	0.07	-5.4345	2.2334	0.04002	0.406:0.1197:0.3536:0.1207	.	56	Q9NWL6	ASND1_HUMAN	F	56	ENSP00000260952:L56F;ENSP00000406790:L56F	ENSP00000260952:L56F	L	+	3	2	ASNSD1	190239271	1.000000	0.71417	1.000000	0.80357	0.520000	0.34377	1.240000	0.32731	0.318000	0.23185	0.650000	0.86243	TTG	ASNSD1	-	NULL		0.383	ASNSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASNSD1	HGNC	protein_coding	OTTHUMT00000255919.3	G	NM_019048		190531026	+1	no_errors	ENST00000260952	ensembl	human	known	70_37	missense	SNP	0.998	T
ASTE1	28990	genome.wustl.edu	37	3	130733047	130733047	+	Frame_Shift_Del	DEL	T	T	-			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr3:130733047delT	ENST00000264992.3	-	6	2335	c.1894delA	c.(1894-1896)aggfs	p.R632fs	ATP2C1_ENST00000533801.2_Intron|ATP2C1_ENST00000359644.3_Intron|ATP2C1_ENST00000507488.2_Intron|ATP2C1_ENST00000422190.2_Intron|ATP2C1_ENST00000513801.1_Intron|ATP2C1_ENST00000393221.4_Intron|ATP2C1_ENST00000504381.1_Intron|ASTE1_ENST00000514044.1_Frame_Shift_Del_p.R657fs|ATP2C1_ENST00000328560.8_Intron	NM_014065.2	NP_054784.2	Q2TB18	ASTE1_HUMAN	asteroid homolog 1 (Drosophila)	632					DNA repair (GO:0006281)		nuclease activity (GO:0004518)	p.R632fs*33(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						TTCTTCTGCCTTTTTTTTTTT	0.403																																																	2	Deletion - Frameshift(2)	ovary(2)											57.0	55.0	56.0					3																	130733047		2203	4300	6503	SO:0001589	frameshift_variant	28990			AF113539	CCDS3068.1, CCDS75007.1	3q21.3	2005-11-17			ENSG00000034533	ENSG00000034533			25021	protein-coding gene	gene with protein product							Standard	NM_014065		Approved	HT001	uc003env.1	Q2TB18	OTTHUMG00000159644	ENST00000264992.3:c.1894delA	3.37:g.130733047delT	ENSP00000264992:p.Arg632fs	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DFL9|Q3MIB6|Q8N6G4|Q96JY1|Q9UHX6	Frame_Shift_Del	DEL	pfam_XPG_DNA_repair_N	p.R632fs	ENST00000264992.3	37	c.1894	CCDS3068.1	3																																																																																			ASTE1	-	NULL		0.403	ASTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASTE1	HGNC	protein_coding	OTTHUMT00000356659.1	T	NM_014065		130733047	-1	no_errors	ENST00000264992	ensembl	human	known	70_37	frame_shift_del	DEL	0.014	-
ATAD5	79915	genome.wustl.edu	37	17	29161432	29161432	+	Silent	SNP	G	G	A			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr17:29161432G>A	ENST00000321990.4	+	2	711	c.333G>A	c.(331-333)aaG>aaA	p.K111K	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	111					cellular response to DNA damage stimulus (GO:0006974)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				TAGAGTTTAAGAAGAAAAGAA	0.343																																																	0													82.0	93.0	89.0					17																	29161432		2202	4296	6498	SO:0001819	synonymous_variant	79915				CCDS11260.1	17q11.2	2010-04-21	2007-02-08	2007-02-08	ENSG00000176208	ENSG00000176208		"""ATPases / AAA-type"""	25752	protein-coding gene	gene with protein product	"""enhanced level of genomic instability 1 homolog (S. cerevisiae)"""	609534	"""chromosome 17 open reading frame 41"""	C17orf41		15983387, 11468690, 19755857	Standard	NM_024857		Approved	FLJ12735, FRAG1, ELG1	uc002hfs.1	Q96QE3	OTTHUMG00000132794	ENST00000321990.4:c.333G>A	17.37:g.29161432G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q05DH0|Q69YR6|Q9H9I1	Silent	SNP	pfam_ATPase_AAA_core,smart_AAA+_ATPase	p.K111	ENST00000321990.4	37	c.333	CCDS11260.1	17																																																																																			ATAD5	-	NULL		0.343	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATAD5	HGNC	protein_coding	OTTHUMT00000256206.2	G	NM_024857		29161432	+1	no_errors	ENST00000321990	ensembl	human	known	70_37	silent	SNP	1.000	A
ATAD5	79915	genome.wustl.edu	37	17	29162264	29162264	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr17:29162264G>A	ENST00000321990.4	+	2	1543	c.1165G>A	c.(1165-1167)Gaa>Aaa	p.E389K	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	389					cellular response to DNA damage stimulus (GO:0006974)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				TGGAAGTTCTGAAGCTGTGAA	0.368																																																	0													61.0	66.0	64.0					17																	29162264		2203	4300	6503	SO:0001583	missense	79915				CCDS11260.1	17q11.2	2010-04-21	2007-02-08	2007-02-08	ENSG00000176208	ENSG00000176208		"""ATPases / AAA-type"""	25752	protein-coding gene	gene with protein product	"""enhanced level of genomic instability 1 homolog (S. cerevisiae)"""	609534	"""chromosome 17 open reading frame 41"""	C17orf41		15983387, 11468690, 19755857	Standard	NM_024857		Approved	FLJ12735, FRAG1, ELG1	uc002hfs.1	Q96QE3	OTTHUMG00000132794	ENST00000321990.4:c.1165G>A	17.37:g.29162264G>A	ENSP00000313171:p.Glu389Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q05DH0|Q69YR6|Q9H9I1	Missense_Mutation	SNP	pfam_ATPase_AAA_core,smart_AAA+_ATPase	p.E389K	ENST00000321990.4	37	c.1165	CCDS11260.1	17	.	.	.	.	.	.	.	.	.	.	G	12.46	1.944231	0.34283	.	.	ENSG00000176208	ENST00000321990	T	0.11821	2.74	5.91	5.91	0.95273	.	0.242690	0.36374	N	0.002635	T	0.26774	0.0655	M	0.61703	1.905	0.32348	N	0.558858	D;P	0.55385	0.971;0.877	P;B	0.53401	0.725;0.339	T	0.23904	-1.0175	10	0.72032	D	0.01	.	13.4885	0.61379	0.0711:0.0:0.9289:0.0	.	389;389	Q96QE3-2;Q96QE3	.;ATAD5_HUMAN	K	389	ENSP00000313171:E389K	ENSP00000313171:E389K	E	+	1	0	ATAD5	26186390	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	4.920000	0.63390	2.813000	0.96785	0.655000	0.94253	GAA	ATAD5	-	NULL		0.368	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATAD5	HGNC	protein_coding	OTTHUMT00000256206.2	G	NM_024857		29162264	+1	no_errors	ENST00000321990	ensembl	human	known	70_37	missense	SNP	0.997	A
ATAD5	79915	genome.wustl.edu	37	17	29162536	29162536	+	Missense_Mutation	SNP	G	G	C	rs553876113	byFrequency	TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr17:29162536G>C	ENST00000321990.4	+	2	1815	c.1437G>C	c.(1435-1437)aaG>aaC	p.K479N	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	479					cellular response to DNA damage stimulus (GO:0006974)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				AAAAGCTAAAGAAGAAGAATA	0.323																																																	0													42.0	50.0	47.0					17																	29162536		2200	4287	6487	SO:0001583	missense	79915				CCDS11260.1	17q11.2	2010-04-21	2007-02-08	2007-02-08	ENSG00000176208	ENSG00000176208		"""ATPases / AAA-type"""	25752	protein-coding gene	gene with protein product	"""enhanced level of genomic instability 1 homolog (S. cerevisiae)"""	609534	"""chromosome 17 open reading frame 41"""	C17orf41		15983387, 11468690, 19755857	Standard	NM_024857		Approved	FLJ12735, FRAG1, ELG1	uc002hfs.1	Q96QE3	OTTHUMG00000132794	ENST00000321990.4:c.1437G>C	17.37:g.29162536G>C	ENSP00000313171:p.Lys479Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q05DH0|Q69YR6|Q9H9I1	Missense_Mutation	SNP	pfam_ATPase_AAA_core,smart_AAA+_ATPase	p.K479N	ENST00000321990.4	37	c.1437	CCDS11260.1	17	.	.	.	.	.	.	.	.	.	.	G	0.281	-0.986461	0.02180	.	.	ENSG00000176208	ENST00000321990	T	0.10668	2.85	5.89	3.86	0.44501	.	0.440915	0.27210	N	0.020415	T	0.10078	0.0247	L	0.35414	1.06	0.25713	N	0.985465	B;B	0.06786	0.001;0.001	B;B	0.11329	0.006;0.002	T	0.20605	-1.0270	10	0.22706	T	0.39	.	16.0057	0.80362	0.0:0.0:0.7489:0.2511	.	479;479	Q96QE3-2;Q96QE3	.;ATAD5_HUMAN	N	479	ENSP00000313171:K479N	ENSP00000313171:K479N	K	+	3	2	ATAD5	26186662	1.000000	0.71417	0.968000	0.41197	0.019000	0.09904	1.622000	0.36997	0.361000	0.24292	-1.113000	0.02065	AAG	ATAD5	-	NULL		0.323	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATAD5	HGNC	protein_coding	OTTHUMT00000256206.2	G	NM_024857		29162536	+1	no_errors	ENST00000321990	ensembl	human	known	70_37	missense	SNP	0.826	C
ATP10A	57194	genome.wustl.edu	37	15	26107970	26107970	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr15:26107970C>T	ENST00000356865.6	-	1	385	c.274G>A	c.(274-276)Gtc>Atc	p.V92I	ATP10A_ENST00000553577.1_5'Flank|RP11-2C7.1_ENST00000557558.1_lincRNA	NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	92					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GCGATGAAGACAAAGTACACG	0.627																																																	0													76.0	55.0	62.0					15																	26107970		2203	4299	6502	SO:0001583	missense	57194			AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.274G>A	15.37:g.26107970C>T	ENSP00000349325:p.Val92Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	Q4G0S9|Q969I4	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.V92I	ENST00000356865.6	37	c.274	CCDS32178.1	15	.	.	.	.	.	.	.	.	.	.	C	18.16	3.563042	0.65538	.	.	ENSG00000206190	ENST00000356865	T	0.54071	0.59	4.03	4.03	0.46877	ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.64402	D	0.000001	T	0.43055	0.1230	L	0.39245	1.2	0.54753	D	0.999986	B	0.33212	0.402	B	0.29942	0.109	T	0.41016	-0.9532	10	0.33141	T	0.24	-30.1089	15.3871	0.74708	0.0:1.0:0.0:0.0	.	92	O60312	AT10A_HUMAN	I	92	ENSP00000349325:V92I	ENSP00000349325:V92I	V	-	1	0	ATP10A	23659063	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.213000	0.77950	2.098000	0.63641	0.456000	0.33151	GTC	ATP10A	-	tigrfam_ATPase_P-typ_Plipid-transl		0.627	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP10A	HGNC	protein_coding	OTTHUMT00000414830.1	C	NM_024490		26107970	-1	no_errors	ENST00000356865	ensembl	human	known	70_37	missense	SNP	1.000	T
ATP8A2	51761	genome.wustl.edu	37	13	26145785	26145785	+	Silent	SNP	C	C	T			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr13:26145785C>T	ENST00000381655.2	+	18	1759	c.1617C>T	c.(1615-1617)ggC>ggT	p.G539G	ATP8A2_ENST00000255283.8_Silent_p.G499G|ATP8A2_ENST00000491840.1_3'UTR	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	499					aging (GO:0007568)|axonogenesis (GO:0007409)|detection of light stimulus involved in visual perception (GO:0050908)|eating behavior (GO:0042755)|inner ear morphogenesis (GO:0042472)|involuntary skeletal muscle contraction (GO:0003011)|negative regulation of cell proliferation (GO:0008285)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling posture (GO:0050884)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phospholipid translocation (GO:0061092)|response to auditory stimulus (GO:0010996)|retina layer formation (GO:0010842)|skin development (GO:0043588)	cell projection (GO:0042995)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		AAAAGCTGGGCTTTGTCTTCA	0.438																																																	0													124.0	121.0	122.0					13																	26145785		1958	4147	6105	SO:0001819	synonymous_variant	51761			AL137256	CCDS41873.1	13q12	2010-04-20	2010-03-31		ENSG00000132932	ENSG00000132932	3.6.3.1	"""ATPases / P-type"""	13533	protein-coding gene	gene with protein product		605870	"""ATPase, aminophospholipid transporter-like, Class I, type 8A, member 2"", ""ATPase, aminophospholipid transporter-like, class I, type 8A, member 2"""			11015572, 19778899	Standard	NM_016529		Approved	ATPIB, ML-1	uc001uqk.3	Q9NTI2	OTTHUMG00000016611	ENST00000381655.2:c.1617C>T	13.37:g.26145785C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9H527|Q9NPU6|Q9NTL2|Q9NYM3	Silent	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.G539	ENST00000381655.2	37	c.1617	CCDS41873.1	13																																																																																			ATP8A2	-	superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,tigrfam_ATPase_P-typ_Plipid-transl		0.438	ATP8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP8A2	HGNC	protein_coding	OTTHUMT00000044236.2	C	NM_016529		26145785	+1	no_errors	ENST00000381655	ensembl	human	known	70_37	silent	SNP	1.000	T
BAG5	9529	genome.wustl.edu	37	14	104027364	104027365	+	Frame_Shift_Ins	INS	-	-	AG			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr14:104027364_104027365insAG	ENST00000445922.2	-	2	383_384	c.137_138insCT	c.(136-138)ctafs	p.L46fs	BAG5_ENST00000337322.4_Frame_Shift_Ins_p.L87fs|RP11-894P9.2_ENST00000556332.1_RNA|RP11-73M18.2_ENST00000472726.2_5'Flank|APOPT1_ENST00000409074.2_5'Flank|APOPT1_ENST00000556253.2_5'Flank|APOPT1_ENST00000247618.4_5'Flank|BAG5_ENST00000299204.4_Frame_Shift_Ins_p.L46fs	NM_004873.3	NP_004864.1	Q9UL15	BAG5_HUMAN	BCL2-associated athanogene 5	46	BAG 1. {ECO:0000255|PROSITE- ProRule:PRU00369}.				negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of protein refolding (GO:0061084)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|neuron death (GO:0070997)|protein folding (GO:0006457)|regulation of inclusion body assembly (GO:0090083)	inclusion body (GO:0016234)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	chaperone binding (GO:0051087)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)			endometrium(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	24		Melanoma(154;0.155)	Epithelial(46;0.144)			GCTGTTTTGTTAGAATCCTCTC	0.411																																					NSCLC(171;1832 2055 18950 31566 41632)												0																																										SO:0001589	frameshift_variant	9529			AF095195	CCDS9982.1, CCDS41995.1	14q32	2008-08-01				ENSG00000166170			941	protein-coding gene	gene with protein product		603885				9873016, 15603737	Standard	NM_001015048		Approved		uc001ynh.2	Q9UL15		ENST00000445922.2:c.136_137dupCT	14.37:g.104027365_104027366dupAG	ENSP00000391713:p.Leu46fs	Somatic		WXS	Illumina HiSeq	Phase_IV	O94950|Q86W59	Frame_Shift_Ins	INS	pfam_BAG_domain,smart_BAG_domain,pfscan_BAG_domain	p.T88fs	ENST00000445922.2	37	c.261_260	CCDS9982.1	14																																																																																			BAG5	-	pfam_BAG_domain,smart_BAG_domain,pfscan_BAG_domain		0.411	BAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAG5	HGNC	protein_coding	OTTHUMT00000414990.1	-			104027365	-1	no_errors	ENST00000337322	ensembl	human	known	70_37	frame_shift_ins	INS	0.036:0.417	AG
BAIAP2L2	80115	genome.wustl.edu	37	22	38504320	38504320	+	Silent	SNP	G	G	A			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr22:38504320G>A	ENST00000381669.3	-	3	300	c.156C>T	c.(154-156)ttC>ttT	p.F52F	BAIAP2L2_ENST00000332536.5_Silent_p.F52F	NM_025045.4	NP_079321.3	Q6UXY1	BI2L2_HUMAN	BAI1-associated protein 2-like 2	52	IMD. {ECO:0000255|PROSITE- ProRule:PRU00668}.				filopodium assembly (GO:0046847)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|signal transduction (GO:0007165)	cell-cell contact zone (GO:0044291)|cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	phospholipid binding (GO:0005543)			large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	8	Melanoma(58;0.045)					GGATGGCACTGAAGTAGACCT	0.627																																																	0													33.0	40.0	38.0					22																	38504320		1975	4132	6107	SO:0001819	synonymous_variant	80115			BC015619	CCDS43018.1	22q13.1	2005-02-09			ENSG00000128298	ENSG00000128298			26203	protein-coding gene	gene with protein product							Standard	NM_025045		Approved	FLJ22582	uc003auw.3	Q6UXY1	OTTHUMG00000151197	ENST00000381669.3:c.156C>T	22.37:g.38504320G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B0QYE2|Q96BG7	Silent	SNP	pfam_IRSp53/MIM_homology_IMD,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	p.F52	ENST00000381669.3	37	c.156	CCDS43018.1	22																																																																																			BAIAP2L2	-	pfam_IRSp53/MIM_homology_IMD		0.627	BAIAP2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAIAP2L2	HGNC	protein_coding	OTTHUMT00000321727.1	G	NM_025045		38504320	-1	no_errors	ENST00000381669	ensembl	human	known	70_37	silent	SNP	0.994	A
BTBD16	118663	genome.wustl.edu	37	10	124089058	124089058	+	Silent	SNP	C	C	T			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr10:124089058C>T	ENST00000260723.4	+	11	1226	c.975C>T	c.(973-975)ctC>ctT	p.L325L	BTBD16_ENST00000368994.2_Silent_p.L326L	NM_144587.2	NP_653188.2	Q32M84	BTBDG_HUMAN	BTB (POZ) domain containing 16	325										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				CGCTCTTCCTCTGCTTGCGTC	0.587																																																	0													132.0	117.0	122.0					10																	124089058		2203	4300	6503	SO:0001819	synonymous_variant	118663			AK058088	CCDS31301.1	10q26.13	2013-01-24	2006-07-04	2006-07-04	ENSG00000138152	ENSG00000138152		"""BTB/POZ domain containing"""	26340	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 87"""	C10orf87			Standard	NM_144587		Approved	FLJ25359, Em:AC061711.1	uc001lgc.1	Q32M84	OTTHUMG00000019182	ENST00000260723.4:c.975C>T	10.37:g.124089058C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NM63|Q4VXL1|Q96LN0	Silent	SNP	superfamily_BTB/POZ_fold	p.L326	ENST00000260723.4	37	c.978	CCDS31301.1	10																																																																																			BTBD16	-	NULL		0.587	BTBD16-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	BTBD16	HGNC	protein_coding	OTTHUMT00000050780.3	C	NM_144587		124089058	+1	no_errors	ENST00000368994	ensembl	human	known	70_37	silent	SNP	0.083	T
BTNL2	56244	genome.wustl.edu	37	6	32364126	32364126	+	Silent	SNP	G	G	A			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr6:32364126G>A	ENST00000374993.1	-	5	767	c.768C>T	c.(766-768)ctC>ctT	p.L256L	BTNL2_ENST00000414363.1_Silent_p.L46L|BTNL2_ENST00000454136.3_Silent_p.L256L|BTNL2_ENST00000544175.1_5'UTR|BTNL2_ENST00000540315.1_Silent_p.L46L|BTNL2_ENST00000429232.2_Silent_p.L163L|HCG23_ENST00000426643.1_RNA|BTNL2_ENST00000374995.3_Silent_p.L162L	NM_019602.1	NP_062548.1	Q9UIR0	BTNL2_HUMAN	butyrophilin-like 2 (MHC class II associated)	256	Ig-like V-type 3.					integral component of membrane (GO:0016021)				central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						CCACTCTGACGAGGATGGGCT	0.468																																																	0													65.0	62.0	63.0					6																	32364126		1511	2708	4219	SO:0001819	synonymous_variant	56244			AF186588		6p21.3	2014-01-14			ENSG00000204290	ENSG00000204290		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1142	protein-coding gene	gene with protein product		606000				10803852, 15735647	Standard	XM_006726138		Approved	HSBLMHC1, BTL-II, BTN7	uc003obg.1	Q9UIR0	OTTHUMG00000031102	ENST00000374993.1:c.768C>T	6.37:g.32364126G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A0PJV5|B0UYW9|B0V0N6|O98261|Q08E96|Q58R22|Q58R23|Q5JYF9|Q5MP42|Q5MP43|Q5RIF8|Q5SP08|Q5SP09|Q5SRW3|Q5SRW4|Q5SU36|Q95HK0	Silent	SNP	pfam_Ig_V-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_C1-set,pfscan_Ig-like	p.L256	ENST00000374993.1	37	c.768		6																																																																																			BTNL2	-	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like		0.468	BTNL2-201	KNOWN	basic|appris_principal	protein_coding	BTNL2	HGNC	protein_coding		G	NM_019602		32364126	-1	no_errors	ENST00000468270	ensembl	human	known	70_37	silent	SNP	0.538	A
C17orf75	64149	genome.wustl.edu	37	17	30661853	30661853	+	Missense_Mutation	SNP	C	C	G			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr17:30661853C>G	ENST00000577809.1	-	7	724	c.675G>C	c.(673-675)ttG>ttC	p.L225F	C17orf75_ENST00000225805.4_Missense_Mutation_p.L225F|RP11-227G15.3_ENST00000581915.1_RNA	NM_022344.3	NP_071739.2	Q9HAS0	NJMU_HUMAN	chromosome 17 open reading frame 75	225										ovary(1)	1		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			GAGTGTAACTCAAAGCCTATG	0.363																																																	0													98.0	83.0	88.0					17																	30661853		1817	4080	5897	SO:0001583	missense	64149			AB062437	CCDS58537.1	17q11.2	2013-01-21			ENSG00000108666	ENSG00000108666			30173	protein-coding gene	gene with protein product							Standard	NM_022344		Approved	NJMU-R1	uc002hhg.3	Q9HAS0		ENST00000577809.1:c.675G>C	17.37:g.30661853C>G	ENSP00000464275:p.Leu225Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q7Z2H4	Missense_Mutation	SNP	NULL	p.L225F	ENST00000577809.1	37	c.675	CCDS58537.1	17	.	.	.	.	.	.	.	.	.	.	C	12.73	2.026100	0.35701	.	.	ENSG00000108666	ENST00000225805	.	.	.	5.56	1.27	0.21489	.	0.000000	0.85682	D	0.000000	T	0.67776	0.2929	M	0.65498	2.005	0.49389	D	0.999781	D	0.71674	0.998	D	0.69142	0.962	T	0.65841	-0.6070	9	0.87932	D	0	-10.1375	7.8067	0.29206	0.0:0.6862:0.1175:0.1963	.	225	Q9HAS0	NJMU_HUMAN	F	225	.	ENSP00000225805:L225F	L	-	3	2	C17orf75	27685966	1.000000	0.71417	0.983000	0.44433	0.987000	0.75469	1.433000	0.34947	0.099000	0.17552	0.591000	0.81541	TTG	C17orf75	-	NULL		0.363	C17orf75-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	C17orf75	HGNC	protein_coding	OTTHUMT00000447204.1	C	NM_022344		30661853	-1	no_errors	ENST00000225805	ensembl	human	known	70_37	missense	SNP	1.000	G
C20orf194	25943	genome.wustl.edu	37	20	3340183	3340183	+	Missense_Mutation	SNP	G	G	C			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr20:3340183G>C	ENST00000252032.9	-	7	737	c.670C>G	c.(670-672)Ctg>Gtg	p.L224V	RNU6-1019P_ENST00000364424.1_RNA	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	224										NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						AAACTCTCCAGAGACATAGGA	0.363																																																	0													92.0	82.0	85.0					20																	3340183		1859	4122	5981	SO:0001583	missense	25943			AL110249	CCDS42851.1	20p13	2012-10-30			ENSG00000088854	ENSG00000088854			17721	protein-coding gene	gene with protein product		614146					Standard	NM_001009984		Approved	DKFZp434N061	uc002wii.3	Q5TEA3	OTTHUMG00000031742	ENST00000252032.9:c.670C>G	20.37:g.3340183G>C	ENSP00000252032:p.Leu224Val	Somatic		WXS	Illumina HiSeq	Phase_IV	Q66K86|Q6P2R9|Q9UFX9	Missense_Mutation	SNP	NULL	p.L224V	ENST00000252032.9	37	c.670	CCDS42851.1	20	.	.	.	.	.	.	.	.	.	.	G	15.55	2.867592	0.51588	.	.	ENSG00000088854	ENST00000252032	T	0.24908	1.83	5.24	3.31	0.37934	.	0.000000	0.64402	D	0.000003	T	0.39226	0.1070	L	0.52364	1.645	0.80722	D	1	D	0.67145	0.996	D	0.75484	0.986	T	0.07328	-1.0778	10	0.40728	T	0.16	.	8.0026	0.30306	0.183:0.0:0.817:0.0	.	224	Q5TEA3	CT194_HUMAN	V	224	ENSP00000252032:L224V	ENSP00000252032:L224V	L	-	1	2	C20orf194	3288183	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.713000	0.47194	0.795000	0.33922	-0.150000	0.13652	CTG	C20orf194	-	NULL		0.363	C20orf194-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C20orf194	HGNC	protein_coding	OTTHUMT00000077734.1	G	NM_001009984		3340183	-1	no_errors	ENST00000252032	ensembl	human	known	70_37	missense	SNP	0.995	C
C2orf73	129852	genome.wustl.edu	37	2	54587459	54587460	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	AG	AG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr2:54587459_54587460delAG	ENST00000398634.2	+	5	666_667	c.624_625delAG	c.(622-627)acagagfs	p.E209fs	C2orf73_ENST00000491538.1_Intron|C2orf73_ENST00000405749.1_Intron	NM_001100396.1	NP_001093866.1	Q8N5S3	CB073_HUMAN	chromosome 2 open reading frame 73	209										breast(2)	2						CCAAAAAAACAGAGAAAGGAAA	0.441																																																	0																																										SO:0001589	frameshift_variant	129852			BC031669, AK097617	CCDS46285.1	2p16.2	2008-07-07			ENSG00000177994	ENSG00000177994			26861	protein-coding gene	gene with protein product						14702039	Standard	NM_001100396		Approved	FLJ40298	uc002rxt.1	Q8N5S3	OTTHUMG00000151826	ENST00000398634.2:c.624_625delAG	2.37:g.54587461_54587462delAG	ENSP00000381631:p.Glu209fs	Somatic		WXS	Illumina HiSeq	Phase_IV	A0AV79|A0AV81|Q8N7V4	Frame_Shift_Del	DEL	NULL	p.K210fs	ENST00000398634.2	37	c.624_625	CCDS46285.1	2																																																																																			C2orf73	-	NULL		0.441	C2orf73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf73	HGNC	protein_coding	OTTHUMT00000324075.2	AG	NM_001100396		54587460	+1	no_errors	ENST00000398634	ensembl	human	known	70_37	frame_shift_del	DEL	1.000:1.000	-
C6orf89	221477	genome.wustl.edu	37	6	36867370	36867371	+	Frame_Shift_Ins	INS	-	-	C			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr6:36867370_36867371insC	ENST00000480824.2	+	3	444_445	c.150_151insC	c.(151-153)cccfs	p.P51fs	C6orf89_ENST00000510325.2_5'UTR|C6orf89_ENST00000355190.3_Frame_Shift_Ins_p.P58fs|C6orf89_ENST00000373685.1_Frame_Shift_Ins_p.P51fs|C6orf89_ENST00000359359.2_5'UTR			Q6UWU4	CF089_HUMAN	chromosome 6 open reading frame 89	51					epithelial cell proliferation (GO:0050673)|positive regulation of cell cycle (GO:0045787)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	15						AACCTCAGAGACCCCCCCCGCA	0.431																																																	0																																										SO:0001589	frameshift_variant	221477			AK058086	CCDS4827.1, CCDS69100.1, CCDS75444.1	6p21.31	2013-03-14			ENSG00000198663	ENSG00000198663			21114	protein-coding gene	gene with protein product	"""bombesin receptor activated protein"""					21857995, 23460338	Standard	NM_152734		Approved	FLJ25357, BRAP	uc003omw.3	Q6UWU4	OTTHUMG00000014613	ENST00000480824.2:c.158dupC	6.37:g.36867378_36867378dupC	ENSP00000475947:p.Pro51fs	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DTT1|F4NAR0|F4NAR1|Q6ZMG5|Q7Z356|Q8IZ35	Frame_Shift_Ins	INS	NULL	p.Q60fs	ENST00000480824.2	37	c.171_172		6																																																																																			C6orf89	-	NULL		0.431	C6orf89-004	KNOWN	alternative_5_UTR|basic	protein_coding	C6orf89	HGNC	protein_coding	OTTHUMT00000040387.2	-	NM_152734		36867371	+1	no_errors	ENST00000355190	ensembl	human	known	70_37	frame_shift_ins	INS	0.997:0.991	C
C7	730	genome.wustl.edu	37	5	40981528	40981528	+	Silent	SNP	G	G	A			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr5:40981528G>A	ENST00000313164.9	+	18	2744	c.2385G>A	c.(2383-2385)tcG>tcA	p.S795S		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	795	Factor I module (FIM) 2.				cellular sodium ion homeostasis (GO:0006883)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)		p.S795S(1)					Ovarian(839;0.0112)				GAGAAGCATCGGAGTGCGAGG	0.522																																																	1	Substitution - coding silent(1)	large_intestine(1)											62.0	63.0	63.0					5																	40981528		2104	4213	6317	SO:0001819	synonymous_variant	730			J03507	CCDS47201.1	5p13.1	2014-09-17			ENSG00000112936	ENSG00000112936		"""Complement system"""	1346	protein-coding gene	gene with protein product		217070					Standard	NM_000587		Approved		uc003jmh.3	P10643	OTTHUMG00000150340	ENST00000313164.9:c.2385G>A	5.37:g.40981528G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6P3T5|Q92489	Silent	SNP	pfam_MACPF,pfam_Sushi_SCR_CCP,pfam_LDrepeatLR_classA_rpt,pfam_Thrombospondin_1_rpt,superfamily_Complement_control_module,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,smart_Sushi_SCR_CCP,smart_FacI_MAC,pfscan_LDrepeatLR_classA_rpt,pfscan_Sushi_SCR_CCP,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin	p.S795	ENST00000313164.9	37	c.2385	CCDS47201.1	5																																																																																			C7	-	smart_FacI_MAC		0.522	C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C7	HGNC	protein_coding	OTTHUMT00000317680.1	G			40981528	+1	no_errors	ENST00000313164	ensembl	human	known	70_37	silent	SNP	0.000	A
CCDC180	100499483	genome.wustl.edu	37	9	100127814	100127814	+	Intron	SNP	G	G	A			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr9:100127814G>A	ENST00000357054.1	+	42	4882				CCDC180_ENST00000375202.2_Intron|CCDC180_ENST00000529487.1_Intron|CCDC180_ENST00000395220.1_Intron|MIR1302-8_ENST00000408342.1_RNA|RP11-23J9.4_ENST00000534123.1_RNA			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180							extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											agagtgtgcagaggtcctggg	0.473																																																	0																																										SO:0001627	intron_variant	100499483			AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"""Behcet's Disease Associated Gene 1"""		"""KIAA1529"", ""chromosome 9 open reading frame 174"""	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.3948-141G>A	9.37:g.100127814G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	RNA	SNP	-	NULL	ENST00000357054.1	37	NULL		9																																																																																			C9orf174	-	-		0.473	CCDC180-201	KNOWN	basic	protein_coding	C9orf174	HGNC	protein_coding		G	NM_020893		100127814	+1	no_errors	ENST00000483504	ensembl	human	known	70_37	rna	SNP	0.406	A
C9orf114	51490	genome.wustl.edu	37	9	131591027	131591027	+	Silent	SNP	C	C	T			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr9:131591027C>T	ENST00000361256.5	-	3	235	c.195G>A	c.(193-195)gaG>gaA	p.E65E		NM_016390.3	NP_057474.2	Q5T280	CI114_HUMAN	chromosome 9 open reading frame 114	65							poly(A) RNA binding (GO:0044822)			kidney(2)|large_intestine(4)|ovary(1)	7						GGTCCTCCTTCTCTGCCGCTG	0.577																																																	0													100.0	106.0	104.0					9																	131591027		2203	4300	6503	SO:0001819	synonymous_variant	51490				CCDS6913.1	9q34.11	2014-05-29			ENSG00000198917	ENSG00000198917			26933	protein-coding gene	gene with protein product	"""centromere protein 32"""					20813266	Standard	NM_016390		Approved	HSPC109, CENP-32	uc004bwd.3	Q5T280	OTTHUMG00000020762	ENST00000361256.5:c.195G>A	9.37:g.131591027C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q0D2P6|Q6P469|Q6PGP9|Q6PIJ1|Q6PJV9	Silent	SNP	pfam_Put_MeTrfase,superfamily_NA-bd_OB-fold-like	p.E65	ENST00000361256.5	37	c.195	CCDS6913.1	9																																																																																			C9orf114	-	NULL		0.577	C9orf114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf114	HGNC	protein_coding	OTTHUMT00000054500.1	C	NM_016390		131591027	-1	no_errors	ENST00000361256	ensembl	human	known	70_37	silent	SNP	0.000	T
CACUL1	143384	genome.wustl.edu	37	10	120488876	120488876	+	Silent	SNP	C	C	G			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr10:120488876C>G	ENST00000369151.3	-	3	1011	c.528G>C	c.(526-528)tcG>tcC	p.S176S	CACUL1_ENST00000544392.1_5'Flank|CACUL1_ENST00000340214.4_Silent_p.S176S	NM_153810.4	NP_722517.3	Q86Y37	CACL1_HUMAN	CDK2-associated, cullin domain 1	176					G1/S transition of mitotic cell cycle (GO:0000082)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein kinase activity (GO:0045860)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)	protein kinase binding (GO:0019901)	p.S176S(1)									ACATCTGTTCCGAGTGCTGCT	0.363																																																	1	Substitution - coding silent(1)	endometrium(1)											96.0	89.0	91.0					10																	120488876		1849	4099	5948	SO:0001819	synonymous_variant	143384			AK097728	CCDS41570.1	10q26.13	2012-06-12	2012-06-12	2012-06-12	ENSG00000151893	ENSG00000151893			23727	protein-coding gene	gene with protein product	"""Cdk-Associated Cullin1"""		"""chromosome 10 open reading frame 46"""	C10orf46		19829063	Standard	NM_153810		Approved	FLJ40409, MGC33215, CAC1	uc001lds.1	Q86Y37	OTTHUMG00000019138	ENST00000369151.3:c.528G>C	10.37:g.120488876C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5XPL7|Q8IY11|Q8N7S4	Silent	SNP	pfam_Cullin_N,superfamily_Cullin_repeat-like_dom	p.S176	ENST00000369151.3	37	c.528	CCDS41570.1	10																																																																																			CACUL1	-	pfam_Cullin_N,superfamily_Cullin_repeat-like_dom		0.363	CACUL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CACUL1	HGNC	protein_coding	OTTHUMT00000050612.2	C	NM_153810		120488876	-1	no_errors	ENST00000369151	ensembl	human	known	70_37	silent	SNP	0.719	G
CAPN3	825	genome.wustl.edu	37	15	42678418	42678418	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr15:42678418C>T	ENST00000397163.3	+	3	652	c.433C>T	c.(433-435)Ctt>Ttt	p.L145F	CAPN3_ENST00000357568.3_Missense_Mutation_p.L145F|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000356316.3_Missense_Mutation_p.L58F|CAPN3_ENST00000318023.7_Missense_Mutation_p.L145F|CAPN3_ENST00000349748.3_Missense_Mutation_p.L145F	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	145	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				apoptotic process (GO:0006915)|autolysis (GO:0001896)|cellular response to calcium ion (GO:0071277)|cellular response to salt stress (GO:0071472)|G1 to G0 transition involved in cell differentiation (GO:0070315)|muscle cell cellular homeostasis (GO:0046716)|muscle organ development (GO:0007517)|muscle structure development (GO:0061061)|myofibril assembly (GO:0030239)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of satellite cell activation involved in skeletal muscle regeneration (GO:0014718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein localization to membrane (GO:0072657)|proteolysis (GO:0006508)|regulation of catalytic activity (GO:0050790)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of myoblast differentiation (GO:0045661)|response to calcium ion (GO:0051592)|response to muscle activity (GO:0014850)|sarcomere organization (GO:0045214)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|myofibril (GO:0030016)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)|ligase regulator activity (GO:0055103)|peptidase activity (GO:0008233)|protein complex scaffold (GO:0032947)|signal transducer activity (GO:0004871)|sodium ion binding (GO:0031402)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		CCAGCACCTTCTTTTCCGAGT	0.542											OREG0023085	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													121.0	99.0	106.0					15																	42678418		2203	4299	6502	SO:0001583	missense	825			X85030	CCDS10085.1, CCDS10086.1, CCDS32207.1, CCDS45245.1, CCDS45246.1	15q15.1	2014-09-17			ENSG00000092529	ENSG00000092529	3.4.22.52	"""EF-hand domain containing"""	1480	protein-coding gene	gene with protein product		114240		LGMD2, LGMD2A		2555341, 7720071	Standard	NM_024344		Approved	CANP3, p94, nCL-1	uc001zpn.1	P20807	OTTHUMG00000130619	ENST00000397163.3:c.433C>T	15.37:g.42678418C>T	ENSP00000380349:p.Leu145Phe	Somatic	910	WXS	Illumina HiSeq	Phase_IV	A6H8K6|Q7L4R0|Q9BQC8|Q9BTU4|Q9Y5S6|Q9Y5S7	Missense_Mutation	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.L145F	ENST00000397163.3	37	c.433	CCDS45245.1	15	.	.	.	.	.	.	.	.	.	.	C	35	5.550951	0.96501	.	.	ENSG00000092529	ENST00000356316;ENST00000397163;ENST00000357568;ENST00000349748;ENST00000318023	D;D;D;D;D	0.90133	-2.62;-2.62;-2.62;-2.62;-2.62	6.07	6.07	0.98685	Peptidase C2, calpain, catalytic domain (3);	0.000000	0.64402	U	0.000002	D	0.94331	0.8178	L	0.49778	1.585	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;0.999	D	0.93451	0.6802	10	0.52906	T	0.07	.	20.6439	0.99570	0.0:1.0:0.0:0.0	.	58;58;145;145;145;58	C6EVS4;C6EVS3;P20807-2;P20807-3;P20807;Q762C8	.;.;.;.;CAN3_HUMAN;.	F	58;145;145;145;145	ENSP00000348667:L58F;ENSP00000380349:L145F;ENSP00000350181:L145F;ENSP00000183936:L145F;ENSP00000326281:L145F	ENSP00000326281:L145F	L	+	1	0	CAPN3	40465710	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.763000	0.85283	2.890000	0.99128	0.650000	0.86243	CTT	CAPN3	-	pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat		0.542	CAPN3-009	KNOWN	basic|CCDS	protein_coding	CAPN3	HGNC	protein_coding	OTTHUMT00000421075.1	C			42678418	+1	no_errors	ENST00000397163	ensembl	human	known	70_37	missense	SNP	1.000	T
CCDC146	57639	genome.wustl.edu	37	7	76797094	76797094	+	Missense_Mutation	SNP	C	C	T	rs374413765		TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr7:76797094C>T	ENST00000285871.4	+	2	236	c.109C>T	c.(109-111)Cgg>Tgg	p.R37W	RP11-467H10.2_ENST00000459742.1_RNA|CCDC146_ENST00000431197.1_5'UTR	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	37										breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				TCAAGATGAGCGGTTTGTTGA	0.363																																																	0								C	TRP/ARG	0,4406		0,0,2203	85.0	92.0	90.0		109	4.1	1.0	7		90	2,8592	1.2+/-3.3	0,2,4295	no	missense	CCDC146	NM_020879.2	101	0,2,6498	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	37/956	76797094	2,12998	2203	4297	6500	SO:0001583	missense	57639			BC029458	CCDS34671.1	7q11.23	2011-09-07			ENSG00000135205	ENSG00000135205			29296	protein-coding gene	gene with protein product						10819331	Standard	NM_020879		Approved	KIAA1505	uc003uga.3	Q8IYE0	OTTHUMG00000162595	ENST00000285871.4:c.109C>T	7.37:g.76797094C>T	ENSP00000285871:p.Arg37Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K8X6|Q9P223	Missense_Mutation	SNP	NULL	p.R37W	ENST00000285871.4	37	c.109	CCDS34671.1	7	.	.	.	.	.	.	.	.	.	.	C	16.22	3.061061	0.55432	0.0	2.33E-4	ENSG00000135205	ENST00000415750;ENST00000285871	D;D	0.85484	-1.99;-1.99	4.07	4.07	0.47477	.	0.366855	0.22620	N	0.057716	D	0.88149	0.6359	L	0.43152	1.355	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.70227	0.93;0.968	D	0.88612	0.3157	10	0.72032	D	0.01	-0.137	11.9983	0.53216	0.0:1.0:0.0:0.0	.	37;37	Q8IYE0;C9JRR4	CC146_HUMAN;.	W	37	ENSP00000388649:R37W;ENSP00000285871:R37W	ENSP00000285871:R37W	R	+	1	2	AC007000.1	76635030	0.998000	0.40836	0.991000	0.47740	0.676000	0.39594	0.874000	0.28065	2.259000	0.74868	0.454000	0.30748	CGG	CCDC146	-	NULL		0.363	CCDC146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC146	HGNC	protein_coding	OTTHUMT00000341449.1	C	NM_020879		76797094	+1	no_errors	ENST00000285871	ensembl	human	known	70_37	missense	SNP	0.984	T
CCNJL	79616	genome.wustl.edu	37	5	159696530	159696530	+	Intron	SNP	G	G	A			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr5:159696530G>A	ENST00000393977.3	-	4	710				CCNJL_ENST00000377503.2_5'UTR|CCNJL_ENST00000505287.2_Missense_Mutation_p.S146F|CCNJL_ENST00000519673.1_Intron|CCNJL_ENST00000257536.7_Intron|CCNJL_ENST00000541762.1_Intron	NM_024565.5	NP_078841.3	Q8IV13	CCNJL_HUMAN	cyclin J-like							nucleus (GO:0005634)				endometrium(2)|kidney(5)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGGCACTGGGGACCCTGATCC	0.582																																																	0																																										SO:0001627	intron_variant	79616			BC013353	CCDS4350.2	5q33.3	2008-10-31			ENSG00000135083	ENSG00000135083			25876	protein-coding gene	gene with protein product						12477932	Standard	XM_005265982		Approved	FLJ14166	uc003lyb.1	Q8IV13	OTTHUMG00000130325	ENST00000393977.3:c.424+6745C>T	5.37:g.159696530G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6ZN43|Q9H7W8	Missense_Mutation	SNP	pfam_Cyclin_N,superfamily_Cyclin-like	p.S146F	ENST00000393977.3	37	c.437	CCDS4350.2	5	.	.	.	.	.	.	.	.	.	.	G	13.82	2.351084	0.41599	.	.	ENSG00000135083	ENST00000505287	.	.	.	3.15	0.27	0.15635	.	.	.	.	.	T	0.35364	0.0929	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.36939	-0.9727	5	0.87932	D	0	.	3.2515	0.06816	0.2619:0.2256:0.5125:0.0	.	.	.	.	F	146	.	ENSP00000444778:S146F	S	-	2	0	CCNJL	159629108	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.008000	0.12788	0.038000	0.15604	0.655000	0.94253	TCC	CCNJL	-	NULL		0.582	CCNJL-001	KNOWN	basic|CCDS	protein_coding	CCNJL	HGNC	protein_coding	OTTHUMT00000252674.1	G	NM_024565		159696530	-1	no_errors	ENST00000505287	ensembl	human	known	70_37	missense	SNP	0.000	A
CCR1	1230	genome.wustl.edu	37	3	46244783	46244783	+	Missense_Mutation	SNP	G	G	C			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr3:46244783G>C	ENST00000296140.3	-	2	1147	c.1022C>G	c.(1021-1023)tCc>tGc	p.S341C	CCR3_ENST00000357422.2_Intron	NM_001295.2	NP_001286.1	P32246	CCR1_HUMAN	chemokine (C-C motif) receptor 1	341					calcium ion transport (GO:0006816)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell chemotaxis (GO:0002407)|exocytosis (GO:0006887)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|negative regulation of bone mineralization (GO:0030502)|negative regulation of gene expression (GO:0010629)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of osteoclast differentiation (GO:0045672)|response to wounding (GO:0009611)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine binding (GO:0019957)|C-C chemokine receptor activity (GO:0016493)|chemokine (C-C motif) ligand 5 binding (GO:0071791)|chemokine (C-C motif) ligand 7 binding (GO:0035717)|chemokine receptor activity (GO:0004950)|phosphatidylinositol phospholipase C activity (GO:0004435)			autonomic_ganglia(1)|large_intestine(6)|lung(6)|pancreas(1)|skin(3)	17				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		GGGAGATGTGGAGCTGACCCT	0.587																																																	0													63.0	57.0	59.0					3																	46244783		2203	4300	6503	SO:0001583	missense	1230				CCDS2737.1	3p21	2012-08-08			ENSG00000163823	ENSG00000163823		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1602	protein-coding gene	gene with protein product		601159		SCYAR1, CMKBR1		7679328	Standard	NM_001295		Approved	CKR-1, MIP1aR, CD191	uc003cph.1	P32246	OTTHUMG00000133451	ENST00000296140.3:c.1022C>G	3.37:g.46244783G>C	ENSP00000296140:p.Ser341Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q86VA9	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CCR1,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CCR5,prints_P2_purnocptor,prints_NPY_rcpt,prints_ATII_rcpt	p.S341C	ENST00000296140.3	37	c.1022	CCDS2737.1	3	.	.	.	.	.	.	.	.	.	.	G	17.99	3.522003	0.64747	.	.	ENSG00000163823	ENST00000296140	T	0.68025	-0.3	4.76	3.89	0.44902	.	2.269100	0.01387	N	0.013135	D	0.88123	0.6352	H	0.94808	3.585	0.41614	D	0.988922	D	0.89917	1.0	D	0.72075	0.976	T	0.72944	-0.4138	10	0.72032	D	0.01	.	11.6592	0.51337	0.0827:0.0:0.9173:0.0	.	341	P32246	CCR1_HUMAN	C	341	ENSP00000296140:S341C	ENSP00000296140:S341C	S	-	2	0	CCR1	46219787	1.000000	0.71417	0.904000	0.35570	0.964000	0.63967	5.946000	0.70234	1.374000	0.46228	0.549000	0.68633	TCC	CCR1	-	NULL		0.587	CCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCR1	HGNC	protein_coding	OTTHUMT00000257325.2	G	NM_001295		46244783	-1	no_errors	ENST00000296140	ensembl	human	known	70_37	missense	SNP	0.988	C
CD300LF	146722	genome.wustl.edu	37	17	72691888	72691888	+	Silent	SNP	C	C	T			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr17:72691888C>T	ENST00000326165.6	-	6	804	c.693G>A	c.(691-693)caG>caA	p.Q231Q	CD300LF_ENST00000469092.1_3'UTR|CD300LF_ENST00000361254.4_3'UTR|CD300LF_ENST00000464910.1_Silent_p.Q234Q|CD300LF_ENST00000583937.1_Silent_p.Q246Q|CD300LF_ENST00000301573.9_3'UTR|RAB37_ENST00000340415.3_Intron|RAB37_ENST00000402449.4_Intron|CD300LF_ENST00000343125.4_3'UTR	NM_139018.3	NP_620587.2	Q8TDQ1	CLM1_HUMAN	CD300 molecule-like family member f	231					immune system process (GO:0002376)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|large_intestine(1)|lung(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						CCACTTCCACCTGGTCAACCT	0.642																																																	0													97.0	84.0	88.0					17																	72691888		2203	4300	6503	SO:0001819	synonymous_variant	146722			BC028199	CCDS11704.1, CCDS74148.1, CCDS74149.1, CCDS74150.1, CCDS74151.1, CCDS74152.1	17q25.2	2013-01-11	2006-03-29		ENSG00000186074	ENSG00000186074		"""Immunoglobulin superfamily / V-set domain containing"""	29883	protein-coding gene	gene with protein product		609807	"""CD300 antigen like family member F"""			12975309	Standard	NM_139018		Approved	IREM1, NKIR, IGSF13, CD300f, CLM1	uc002jlg.3	Q8TDQ1	OTTHUMG00000067609	ENST00000326165.6:c.693G>A	17.37:g.72691888C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RCL2|C9JDN3|Q3Y6P0|Q6UX24|Q7Z6A6|Q7Z7I4|Q7Z7I5|Q8N6D0|Q8NAF5	Silent	SNP	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like	p.Q231	ENST00000326165.6	37	c.693	CCDS11704.1	17																																																																																			CD300LF	-	NULL		0.642	CD300LF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CD300LF	HGNC	protein_coding	OTTHUMT00000145085.1	C	NM_139018		72691888	-1	no_errors	ENST00000326165	ensembl	human	known	70_37	silent	SNP	0.000	T
CEP120	153241	genome.wustl.edu	37	5	122754060	122754060	+	Nonsense_Mutation	SNP	G	G	A			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr5:122754060G>A	ENST00000306467.5	-	2	503	c.199C>T	c.(199-201)Cag>Tag	p.Q67*	CEP120_ENST00000328236.5_Nonsense_Mutation_p.Q67*|CEP120_ENST00000395431.2_Nonsense_Mutation_p.Q67*|CEP120_ENST00000306481.6_Nonsense_Mutation_p.Q41*			Q8N960	CE120_HUMAN	centrosomal protein 120kDa	67					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)|regulation of protein localization (GO:0032880)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						CACCTGTGCTGATGAAGCGCT	0.383																																																	0													115.0	105.0	108.0					5																	122754060		1913	4142	6055	SO:0001587	stop_gained	153241			AK095646	CCDS4134.2, CCDS54890.1	5q23.2	2014-02-20	2008-08-14	2008-08-14	ENSG00000168944	ENSG00000168944			26690	protein-coding gene	gene with protein product		613446	"""coiled-coil domain containing 100"""	CCDC100		17920017	Standard	NM_153223		Approved	FLJ36090	uc003ktk.3	Q8N960	OTTHUMG00000128922	ENST00000306467.5:c.199C>T	5.37:g.122754060G>A	ENSP00000303058:p.Gln67*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6AI52|Q6AW89|Q8IWB5|Q8N9Y0|Q8NDE8	Nonsense_Mutation	SNP	pfam_DUF3668,superfamily_C2_Ca/lipid-bd_dom_CaLB	p.Q67*	ENST00000306467.5	37	c.199	CCDS4134.2	5	.	.	.	.	.	.	.	.	.	.	G	30	5.057405	0.93846	.	.	ENSG00000168944	ENST00000306467;ENST00000328236;ENST00000306481;ENST00000508442;ENST00000395431	.	.	.	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-13.5247	19.3603	0.94434	0.0:0.0:1.0:0.0	.	.	.	.	X	67;67;41;41;67	.	ENSP00000303058:Q67X	Q	-	1	0	CEP120	122781959	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.105000	0.94246	2.639000	0.89480	0.650000	0.86243	CAG	CEP120	-	pfam_DUF3668,superfamily_C2_Ca/lipid-bd_dom_CaLB		0.383	CEP120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP120	HGNC	protein_coding	OTTHUMT00000250899.2	G	NM_153223		122754060	-1	no_errors	ENST00000306467	ensembl	human	known	70_37	nonsense	SNP	1.000	A
CEP164	22897	genome.wustl.edu	37	11	117266344	117266344	+	Nonsense_Mutation	SNP	G	G	T			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr11:117266344G>T	ENST00000278935.3	+	24	3142	c.2995G>T	c.(2995-2997)Gaa>Taa	p.E999*	CEP164_ENST00000533706.1_3'UTR	NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	999					cilium assembly (GO:0042384)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)		p.E999*(1)		breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		GCAGCTCCGAGAAATTCTTGA	0.572																																																	1	Substitution - Nonsense(1)	large_intestine(1)											55.0	55.0	55.0					11																	117266344		2201	4296	6497	SO:0001587	stop_gained	22897			AB028975	CCDS31683.1	11q23.3	2014-02-20			ENSG00000110274	ENSG00000110274			29182	protein-coding gene	gene with protein product		614848				10470851, 14654843	Standard	NM_014956		Approved	KIAA1052, NPHP15	uc001prc.3	Q9UPV0	OTTHUMG00000167070	ENST00000278935.3:c.2995G>T	11.37:g.117266344G>T	ENSP00000278935:p.Glu999*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6PKH9|Q7Z2X9|Q9NVS0|Q9UFJ6	Nonsense_Mutation	SNP	superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP	p.E999*	ENST00000278935.3	37	c.2995	CCDS31683.1	11	.	.	.	.	.	.	.	.	.	.	G	21.6	4.172919	0.78452	.	.	ENSG00000110274	ENST00000278935;ENST00000529538	.	.	.	5.02	-0.501	0.12008	.	0.546940	0.16786	N	0.199593	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05436	T	0.98	-0.4816	6.0327	0.19688	0.5435:0.2956:0.1609:0.0	.	.	.	.	X	999;973	.	ENSP00000278935:E999X	E	+	1	0	CEP164	116771554	0.000000	0.05858	0.002000	0.10522	0.008000	0.06430	-0.006000	0.12833	0.282000	0.22254	-0.458000	0.05436	GAA	CEP164	-	NULL		0.572	CEP164-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP164	HGNC	protein_coding	OTTHUMT00000392893.1	G	NM_014956		117266344	+1	no_errors	ENST00000278935	ensembl	human	known	70_37	nonsense	SNP	0.000	T
CEP250	11190	genome.wustl.edu	37	20	34055251	34055251	+	Missense_Mutation	SNP	G	G	T	rs548805618		TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr20:34055251G>T	ENST00000397527.1	+	9	1442	c.722G>T	c.(721-723)cGg>cTg	p.R241L	CEP250_ENST00000397524.1_Missense_Mutation_p.R241L|CEP250_ENST00000342580.4_Missense_Mutation_p.R241L	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	241					centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			ATGGATGGGCGGGAGCCGGCC	0.572																																																	0													74.0	80.0	78.0					20																	34055251		2203	4300	6503	SO:0001583	missense	11190			AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"""centrosomal protein 2"""	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.722G>T	20.37:g.34055251G>T	ENSP00000380661:p.Arg241Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	E1P5Q3|O14812|O60588|Q9H450	Missense_Mutation	SNP	superfamily_Prefoldin	p.R241L	ENST00000397527.1	37	c.722	CCDS13255.1	20	.	.	.	.	.	.	.	.	.	.	G	8.408	0.843545	0.16963	.	.	ENSG00000126001	ENST00000397527;ENST00000342580;ENST00000397524;ENST00000425934	T;T;T;T	0.47528	2.83;2.83;0.84;1.81	5.56	-2.08	0.07254	.	11.272300	0.00166	N	0.000000	T	0.37210	0.0995	N	0.22421	0.69	0.09310	N	1	B;B	0.29646	0.044;0.253	B;B	0.31614	0.026;0.133	T	0.37430	-0.9706	10	0.40728	T	0.16	.	10.8777	0.46921	0.6022:0.0:0.3978:0.0	.	241;241	A6PVI9;Q9BV73	.;CP250_HUMAN	L	241	ENSP00000380661:R241L;ENSP00000341541:R241L;ENSP00000380658:R241L;ENSP00000413827:R241L	ENSP00000341541:R241L	R	+	2	0	CEP250	33518665	0.000000	0.05858	0.001000	0.08648	0.158000	0.22134	-0.696000	0.05104	-0.231000	0.09825	0.655000	0.94253	CGG	CEP250	-	NULL		0.572	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP250	HGNC	protein_coding	OTTHUMT00000078877.7	G	NM_007186		34055251	+1	no_errors	ENST00000397527	ensembl	human	known	70_37	missense	SNP	0.000	T
CHRNA7	1139	genome.wustl.edu	37	15	32460293	32460293	+	Silent	SNP	C	C	T	rs542404300	byFrequency	TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr15:32460293C>T	ENST00000306901.3	+	10	1240	c.1143C>T	c.(1141-1143)aaC>aaT	p.N381N	CHRNA7_ENST00000454250.3_Silent_p.N410N|CHRNA7_ENST00000455693.2_Silent_p.N200N	NM_000746.5	NP_000737.1	P36544	ACHA7_HUMAN	cholinergic receptor, nicotinic, alpha 7 (neuronal)	381					activation of MAPK activity (GO:0000187)|associative learning (GO:0008306)|B cell activation (GO:0042113)|behavioral response to ethanol (GO:0048149)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|cellular calcium ion homeostasis (GO:0006874)|cognition (GO:0050890)|dopamine biosynthetic process (GO:0042416)|endocytosis (GO:0006897)|generation of ovulation cycle rhythm (GO:0060112)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|memory (GO:0007613)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of tumor necrosis factor production (GO:0032720)|neuronal action potential (GO:0019228)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of heart rate involved in baroreceptor response to decreased systemic arterial blood pressure (GO:0001988)|regulation of norepinephrine secretion (GO:0014061)|regulation of synaptic transmission, dopaminergic (GO:0032225)|response to food (GO:0032094)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|signal transduction (GO:0007165)|sperm motility (GO:0030317)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|T cell activation (GO:0042110)	acetylcholine-gated channel complex (GO:0005892)|apical plasma membrane (GO:0016324)|asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|external side of plasma membrane (GO:0009897)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|acetylcholine-gated cation channel activity (GO:0022848)|beta-amyloid binding (GO:0001540)|chloride channel regulator activity (GO:0017081)|drug binding (GO:0008144)|protein homodimerization activity (GO:0042803)|toxic substance binding (GO:0015643)			endometrium(3)|large_intestine(1)|lung(6)|ovary(2)	12		all_lung(180;6.35e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Nicotine(DB00184)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)|Varenicline(DB01273)	CCGCCAGCAACGGGAACCTGC	0.721													C|||	2	0.000399361	0.0	0.0029	5008	,	,		18059	0.0		0.0	False		,,,				2504	0.0				Esophageal Squamous(193;529 2900 40232 43193)												0													13.0	19.0	17.0					15																	32460293		2132	4231	6363	SO:0001819	synonymous_variant	1139			Z23141	CCDS10027.1, CCDS53924.1	15q13.3	2012-02-11	2012-02-07		ENSG00000175344	ENSG00000175344		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1960	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 7 (neuronal)"""	118511	"""cholinergic receptor, nicotinic, alpha polypeptide 7"""			8188270	Standard	NM_001190455		Approved		uc021sic.2	P36544	OTTHUMG00000129285	ENST00000306901.3:c.1143C>T	15.37:g.32460293C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K7Q4|B4DFS0|Q15826|Q8IUZ4|Q96RH2|Q99555|Q9BXH0	Silent	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.N410	ENST00000306901.3	37	c.1230	CCDS10027.1	15																																																																																			CHRNA7	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel		0.721	CHRNA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CHRNA7	HGNC	protein_coding	OTTHUMT00000251410.2	C			32460293	+1	no_errors	ENST00000454250	ensembl	human	known	70_37	silent	SNP	0.569	T
CNTLN	54875	genome.wustl.edu	37	9	17394799	17394799	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr9:17394799G>A	ENST00000380647.3	+	15	2431	c.2347G>A	c.(2347-2349)Gca>Aca	p.A783T	CNTLN_ENST00000262360.5_Missense_Mutation_p.A783T|CNTLN_ENST00000425824.1_Missense_Mutation_p.A783T			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	783					centriole-centriole cohesion (GO:0010457)|protein localization to organelle (GO:0033365)	centriole (GO:0005814)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)|protein binding, bridging (GO:0030674)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		AGAAGCTAATGCATTGAGAAA	0.418																																																	0													87.0	88.0	87.0					9																	17394799		1963	4167	6130	SO:0001583	missense	54875			AK000283	CCDS43789.1, CCDS47953.1	9p22.2-p22.1	2008-11-11	2008-02-08	2008-02-08	ENSG00000044459	ENSG00000044459			23432	protein-coding gene	gene with protein product		611870	"""chromosome 9 open reading frame 101"", ""chromosome 9 open reading frame 39"""	C9orf101, C9orf39		18086554	Standard	XM_005251492		Approved	FLJ20276, bA340N12.1, OTTHUMG00000019597	uc003zmy.3	Q9NXG0	OTTHUMG00000019599	ENST00000380647.3:c.2347G>A	9.37:g.17394799G>A	ENSP00000370021:p.Ala783Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Missense_Mutation	SNP	superfamily_Prefoldin	p.A783T	ENST00000380647.3	37	c.2347	CCDS43789.1	9	.	.	.	.	.	.	.	.	.	.	G	5.839	0.339114	0.11069	.	.	ENSG00000044459	ENST00000380647;ENST00000425824;ENST00000262360	T;T;T	0.18016	2.24;2.24;2.5	5.77	3.95	0.45737	.	.	.	.	.	T	0.10895	0.0266	L	0.36672	1.1	0.21652	N	0.9996	B;B;B	0.30973	0.152;0.302;0.302	B;B;B	0.25140	0.058;0.058;0.036	T	0.31081	-0.9956	9	0.21014	T	0.42	.	4.2851	0.10851	0.2985:0.0:0.5508:0.1507	.	783;783;783	Q9NXG0;C9J1F9;Q9NXG0-2	CNTLN_HUMAN;.;.	T	783	ENSP00000370021:A783T;ENSP00000392798:A783T;ENSP00000262360:A783T	ENSP00000262360:A783T	A	+	1	0	CNTLN	17384799	0.714000	0.27936	0.533000	0.28001	0.995000	0.86356	0.943000	0.29030	0.796000	0.33947	0.650000	0.86243	GCA	CNTLN	-	NULL		0.418	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNTLN	HGNC	protein_coding	OTTHUMT00000051793.3	G	NM_017738		17394799	+1	no_errors	ENST00000380647	ensembl	human	known	70_37	missense	SNP	0.290	A
CTRB2	440387	genome.wustl.edu	37	16	75238138	75238138	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr16:75238138C>T	ENST00000303037.8	-	7	756	c.713G>A	c.(712-714)tGc>tAc	p.C238Y		NM_001025200.3	NP_001020371.3	Q6GPI1	CTRB2_HUMAN	chymotrypsinogen B2	238	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			endometrium(1)|large_intestine(1)|lung(2)	4						GGTGGTAGAGCAGGTGCGGCT	0.667																																																	0													89.0	79.0	83.0					16																	75238138		2198	4300	6498	SO:0001583	missense	440387			M24400, AK131056	CCDS32489.1	16q22.3	2007-10-22			ENSG00000168928	ENSG00000168928			2522	protein-coding gene	gene with protein product						2917002, 8186414	Standard	NM_001025200		Approved		uc002fdr.3	Q6GPI1	OTTHUMG00000159271	ENST00000303037.8:c.713G>A	16.37:g.75238138C>T	ENSP00000303963:p.Cys238Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K707	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.C238Y	ENST00000303037.8	37	c.713	CCDS32489.1	16	.	.	.	.	.	.	.	.	.	.	C	21.4	4.143216	0.77888	.	.	ENSG00000168928	ENST00000303037	D	0.91686	-2.89	4.33	4.33	0.51752	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.85682	U	0.000000	D	0.94820	0.8327	L	0.56280	1.765	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95556	0.8625	10	0.87932	D	0	.	16.809	0.85713	0.0:1.0:0.0:0.0	.	238	Q6GPI1	CTRB2_HUMAN	Y	238	ENSP00000303963:C238Y	ENSP00000303963:C238Y	C	-	2	0	CTRB2	73795639	1.000000	0.71417	0.906000	0.35671	0.685000	0.39939	7.608000	0.82898	2.141000	0.66446	0.436000	0.28706	TGC	CTRB2	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6		0.667	CTRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTRB2	HGNC	protein_coding	OTTHUMT00000354298.2	C	NM_001025200		75238138	-1	no_errors	ENST00000303037	ensembl	human	known	70_37	missense	SNP	1.000	T
CUL9	23113	genome.wustl.edu	37	6	43163825	43163825	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr6:43163825G>A	ENST00000252050.4	+	10	2491	c.2407G>A	c.(2407-2409)Gtc>Atc	p.V803I	CUL9_ENST00000372647.2_Missense_Mutation_p.V803I|CUL9_ENST00000354495.3_Missense_Mutation_p.V693I	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	803					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						GATGCTGGCCGTCGCCAGCTC	0.532																																																	0													85.0	88.0	87.0					6																	43163825		2203	4300	6503	SO:0001583	missense	23113			AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"""parkin-like cytoplasmic p53 binding protein"", ""p53-associated parkin-like cytoplasmic protein"""	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.2407G>A	6.37:g.43163825G>A	ENSP00000252050:p.Val803Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Missense_Mutation	SNP	pfam_Cullin_N,pfam_CPH_domain,pfam_Znf_C6HC,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,superfamily_UBA-like,smart_Cullin_neddylation_domain,smart_Znf_C6HC,pfscan_Znf_RING,pfscan_Cullin_homology	p.V803I	ENST00000252050.4	37	c.2407	CCDS4890.1	6	.	.	.	.	.	.	.	.	.	.	G	0.016	-1.529458	0.00951	.	.	ENSG00000112659	ENST00000252050;ENST00000354495;ENST00000372647	T;T;T	0.37411	1.2;1.2;1.2	5.19	1.36	0.22044	Armadillo-like helical (1);Armadillo-type fold (1);	0.902571	0.09686	N	0.769055	T	0.03651	0.0104	N	0.03608	-0.345	0.18873	N	0.999989	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.44907	-0.9297	10	0.02654	T	1	-2.3734	8.9636	0.35863	0.5445:0.0:0.4555:0.0	.	803;803	E9PEZ1;Q8IWT3	.;CUL9_HUMAN	I	803;693;803	ENSP00000252050:V803I;ENSP00000346490:V693I;ENSP00000361730:V803I	ENSP00000252050:V803I	V	+	1	0	CUL9	43271803	0.983000	0.35010	0.973000	0.42090	0.150000	0.21749	1.386000	0.34419	0.004000	0.14682	-1.264000	0.01445	GTC	CUL9	-	superfamily_ARM-type_fold		0.532	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUL9	HGNC	protein_coding	OTTHUMT00000040582.2	G	NM_015089		43163825	+1	no_errors	ENST00000252050	ensembl	human	known	70_37	missense	SNP	0.999	A
CXXC1	30827	genome.wustl.edu	37	18	47809337	47809337	+	Missense_Mutation	SNP	C	C	G			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr18:47809337C>G	ENST00000285106.6	-	14	2425	c.1711G>C	c.(1711-1713)Gat>Cat	p.D571H	MBD1_ENST00000457839.2_5'Flank|MBD1_ENST00000585595.1_5'Flank|MBD1_ENST00000398493.1_5'Flank|MBD1_ENST00000353909.3_5'Flank|MBD1_ENST00000588937.1_5'Flank|MBD1_ENST00000349085.2_5'Flank|MBD1_ENST00000590208.1_5'Flank|CXXC1_ENST00000589940.1_Silent_p.V558V|MBD1_ENST00000347968.3_5'Flank|MBD1_ENST00000585672.1_5'Flank|MBD1_ENST00000398488.1_5'Flank|MBD1_ENST00000591535.1_5'Flank|MBD1_ENST00000382948.5_5'Flank|MBD1_ENST00000398495.2_5'Flank|MBD1_ENST00000424334.2_5'Flank|CXXC1_ENST00000412036.2_Missense_Mutation_p.D575H|MBD1_ENST00000436910.1_5'Flank|MBD1_ENST00000339998.6_5'Flank|MBD1_ENST00000587605.1_5'Flank|MBD1_ENST00000269468.5_5'Flank|MBD1_ENST00000591416.1_5'Flank|MBD1_ENST00000269471.5_5'Flank	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	571					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|histone H3-K4 methylation (GO:0051568)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						TCAAAGACATCACGTACAAGG	0.602																																																	0													73.0	70.0	71.0					18																	47809337		2203	4300	6503	SO:0001583	missense	30827			BC014940	CCDS11945.1, CCDS45866.1	18q12	2014-02-20	2014-02-20		ENSG00000154832	ENSG00000154832		"""Zinc fingers, PHD-type"""	24343	protein-coding gene	gene with protein product	"""CpG binding protein"", ""DNA-binding protein with PHD finger and CXXC domain"", ""zinc finger, CpG binding-type containing 1"""	609150	"""CXXC finger 1 (PHD domain)"""			10799292, 10688657	Standard	NM_014593		Approved	HsT2645, PCCX1, hCGBP, PHF18, CGBP, SPP1, CFP1, ZCGPC1	uc002ler.4	Q9P0U4	OTTHUMG00000132670	ENST00000285106.6:c.1711G>C	18.37:g.47809337C>G	ENSP00000285106:p.Asp571His	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RC03|Q8N2W4|Q96BC8|Q9P2V7	Missense_Mutation	SNP	pfam_CpG-bd_C,pfam_Znf_CXXC,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC	p.D575H	ENST00000285106.6	37	c.1723	CCDS11945.1	18	.	.	.	.	.	.	.	.	.	.	C	17.04	3.288328	0.59976	.	.	ENSG00000154832	ENST00000285106;ENST00000412036	T;T	0.27104	1.69;1.69	4.2	4.2	0.49525	CpG binding protein, C-terminal (1);	0.131076	0.49916	D	0.000132	T	0.41811	0.1175	L	0.43152	1.355	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.994	D;D;D	0.71870	0.975;0.973;0.954	T	0.36456	-0.9747	10	0.72032	D	0.01	-15.9561	14.4149	0.67142	0.0:1.0:0.0:0.0	.	575;571;438	Q9P0U4-2;Q9P0U4;Q59EC8	.;CXXC1_HUMAN;.	H	571;575	ENSP00000285106:D571H;ENSP00000390475:D575H	ENSP00000285106:D571H	D	-	1	0	CXXC1	46063335	1.000000	0.71417	0.977000	0.42913	0.989000	0.77384	4.176000	0.58269	2.033000	0.60031	0.453000	0.30009	GAT	CXXC1	-	pfam_CpG-bd_C		0.602	CXXC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CXXC1	HGNC	protein_coding	OTTHUMT00000255927.2	C	NM_014593		47809337	-1	no_errors	ENST00000412036	ensembl	human	known	70_37	missense	SNP	0.994	G
CXXC1	30827	genome.wustl.edu	37	18	47810186	47810186	+	Splice_Site	SNP	C	C	G			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr18:47810186C>G	ENST00000285106.6	-	11	2128		c.e11-1		CXXC1_ENST00000587396.1_5'Flank|MBD1_ENST00000457839.2_5'Flank|MBD1_ENST00000585595.1_5'Flank|MBD1_ENST00000398493.1_5'Flank|MBD1_ENST00000353909.3_5'Flank|MBD1_ENST00000349085.2_5'Flank|MBD1_ENST00000590208.1_5'Flank|CXXC1_ENST00000589940.1_Splice_Site|MBD1_ENST00000347968.3_5'Flank|MBD1_ENST00000585672.1_5'Flank|MBD1_ENST00000382948.5_5'Flank|MBD1_ENST00000424334.2_5'Flank|CXXC1_ENST00000412036.2_Splice_Site|MBD1_ENST00000436910.1_5'Flank|MBD1_ENST00000339998.6_5'Flank|MBD1_ENST00000587605.1_5'Flank|MBD1_ENST00000269468.5_5'Flank|MBD1_ENST00000591416.1_5'Flank|MBD1_ENST00000269471.5_5'Flank	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|histone H3-K4 methylation (GO:0051568)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)	p.?(1)		autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						CCTCGTTGCTCTGCATGGAAT	0.577																																																	1	Unknown(1)	lung(1)											138.0	122.0	128.0					18																	47810186		2203	4300	6503	SO:0001630	splice_region_variant	30827			BC014940	CCDS11945.1, CCDS45866.1	18q12	2014-02-20	2014-02-20		ENSG00000154832	ENSG00000154832		"""Zinc fingers, PHD-type"""	24343	protein-coding gene	gene with protein product	"""CpG binding protein"", ""DNA-binding protein with PHD finger and CXXC domain"", ""zinc finger, CpG binding-type containing 1"""	609150	"""CXXC finger 1 (PHD domain)"""			10799292, 10688657	Standard	NM_014593		Approved	HsT2645, PCCX1, hCGBP, PHF18, CGBP, SPP1, CFP1, ZCGPC1	uc002ler.4	Q9P0U4	OTTHUMG00000132670	ENST00000285106.6:c.1414-1G>C	18.37:g.47810186C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RC03|Q8N2W4|Q96BC8|Q9P2V7	Splice_Site	SNP	-	e11-1	ENST00000285106.6	37	c.1426-1	CCDS11945.1	18	.	.	.	.	.	.	.	.	.	.	C	14.74	2.626924	0.46840	.	.	ENSG00000154832	ENST00000285106;ENST00000412036	.	.	.	4.65	4.65	0.58169	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3793	0.74641	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CXXC1	46064184	1.000000	0.71417	0.998000	0.56505	0.569000	0.35902	7.146000	0.77373	2.290000	0.77057	0.467000	0.42956	.	CXXC1	-	-		0.577	CXXC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CXXC1	HGNC	protein_coding	OTTHUMT00000255927.2	C	NM_014593	Intron	47810186	-1	no_errors	ENST00000412036	ensembl	human	known	70_37	splice_site	SNP	1.000	G
CYP2G1P	22952	genome.wustl.edu	37	19	41397180	41397180	+	Intron	SNP	C	C	T			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr19:41397180C>T	ENST00000601627.1	+	2	119				CYP2G1P_ENST00000252909.4_RNA																							CTTGCCTGCTCATCCTCATTG	0.562																																																	0																																										SO:0001627	intron_variant	22952																														ENST00000601627.1:c.120-716C>T	19.37:g.41397180C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000601627.1	37	NULL		19																																																																																			CYP2G1P	-	-		0.562	CTC-490E21.12-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	CYP2G1P	HGNC	protein_coding	OTTHUMT00000463921.1	C			41397180	+1	no_errors	ENST00000252909	ensembl	human	known	70_37	rna	SNP	0.682	T
DACT2	168002	genome.wustl.edu	37	6	168708526	168708526	+	Silent	SNP	C	C	T			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr6:168708526C>T	ENST00000366795.3	-	4	1999	c.1911G>A	c.(1909-1911)agG>agA	p.R637R	DACT2_ENST00000607983.1_Silent_p.R229R|DACT2_ENST00000366796.3_Intron|DACT2_ENST00000610183.1_Silent_p.R467R	NM_214462.3	NP_999627.2	Q5SW24	DACT2_HUMAN	dishevelled-binding antagonist of beta-catenin 2	637					epithelial cell morphogenesis (GO:0003382)|hematopoietic progenitor cell differentiation (GO:0002244)|inner medullary collecting duct development (GO:0072061)|negative regulation of cell adhesion (GO:0007162)|negative regulation of nodal signaling pathway (GO:1900108)|skin development (GO:0043588)	mitochondrion (GO:0005739)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|protein kinase A binding (GO:0051018)|protein kinase C binding (GO:0005080)|transcription factor binding (GO:0008134)			endometrium(1)	1		Breast(66;1.46e-05)|Ovarian(120;0.0728)		OV - Ovarian serous cystadenocarcinoma(33;5.33e-21)|BRCA - Breast invasive adenocarcinoma(81;1.18e-06)|GBM - Glioblastoma multiforme(31;0.000957)		CACCTGCTCTCCTGGCCACGG	0.716																																																	0													7.0	10.0	9.0					6																	168708526		689	1585	2274	SO:0001819	synonymous_variant	168002			AF318336	CCDS47519.1, CCDS69241.1, CCDS75554.1	6q27	2013-05-15	2013-05-15	2003-09-17	ENSG00000164488	ENSG00000164488			21231	protein-coding gene	gene with protein product		608966	"""chromosome 6 open reading frame 116"", ""dapper homolog 2, antagonist of beta-catenin (xenopus)"", ""dapper, antagonist of beta-catenin, homolog 2 (Xenopus laevis)"""	C6orf116			Standard	NM_001286351		Approved	bA503C24.7, DAPPER2	uc003qwq.3	Q5SW24	OTTHUMG00000016046	ENST00000366795.3:c.1911G>A	6.37:g.168708526C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q2NKJ2|Q569G0|Q8WYW2	Silent	SNP	NULL	p.R637	ENST00000366795.3	37	c.1911	CCDS47519.1	6																																																																																			DACT2	-	NULL		0.716	DACT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DACT2	HGNC	protein_coding	OTTHUMT00000043193.1	C			168708526	-1	no_errors	ENST00000366795	ensembl	human	known	70_37	silent	SNP	0.010	T
DCTD	1635	genome.wustl.edu	37	4	183814220	183814220	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr4:183814220G>A	ENST00000438320.2	-	5	712	c.422C>T	c.(421-423)gCg>gTg	p.A141V	DCTD_ENST00000357067.3_Missense_Mutation_p.A152V|DCTD_ENST00000510370.1_Missense_Mutation_p.A141V	NM_001921.2	NP_001912.2	P32321	DCTD_HUMAN	dCMP deaminase	141					nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide biosynthetic process (GO:0009165)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside biosynthetic process (GO:0046134)|pyrimidine nucleotide metabolic process (GO:0006220)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	dCMP deaminase activity (GO:0004132)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|urinary_tract(1)	18		all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00666)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.202)		all cancers(43;1.65e-24)|Epithelial(43;3.44e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.39e-10)|Colorectal(24;4.69e-07)|COAD - Colon adenocarcinoma(29;7.07e-05)|STAD - Stomach adenocarcinoma(60;0.000118)|GBM - Glioblastoma multiforme(59;0.000472)|LUSC - Lung squamous cell carcinoma(40;0.00984)|READ - Rectum adenocarcinoma(43;0.0419)	Cytarabine(DB00987)	CAGGAGCCTCGCAGCAGTTGC	0.498																																																	0													71.0	66.0	67.0					4																	183814220		2203	4300	6503	SO:0001583	missense	1635			L12136	CCDS3831.1, CCDS34108.1	4q35.1	2008-08-01			ENSG00000129187	ENSG00000129187	3.5.4.12		2710	protein-coding gene	gene with protein product		607638					Standard	XM_005262778		Approved		uc003ivg.3	P32321	OTTHUMG00000160685	ENST00000438320.2:c.422C>T	4.37:g.183814220G>A	ENSP00000398194:p.Ala141Val	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R836|D3DP49|D3DP50|Q5M7Z8|Q9BVD8	Missense_Mutation	SNP	pfam_CMP_dCMP_Zn-bd,superfamily_Cytidine_deaminase-like,pirsf_dCMP_deaminase	p.A152V	ENST00000438320.2	37	c.455	CCDS3831.1	4	.	.	.	.	.	.	.	.	.	.	G	21.0	4.075188	0.76415	.	.	ENSG00000129187	ENST00000357067;ENST00000438320;ENST00000510370;ENST00000503182	T;T;T;T	0.44881	0.91;0.91;0.91;0.91	5.39	5.39	0.77823	Cytidine deaminase-like (1);	0.050553	0.85682	D	0.000000	T	0.60599	0.2281	M	0.83384	2.64	0.80722	D	1	P;D;D;P	0.71674	0.811;0.994;0.998;0.902	B;B;P;B	0.50970	0.058;0.434;0.655;0.094	T	0.68405	-0.5417	10	0.87932	D	0	-11.1545	19.5067	0.95121	0.0:0.0:1.0:0.0	.	141;82;152;141	D6RBJ9;B4DDC2;P32321-2;P32321	.;.;.;DCTD_HUMAN	V	152;141;141;141	ENSP00000349576:A152V;ENSP00000398194:A141V;ENSP00000424017:A141V;ENSP00000422662:A141V	ENSP00000349576:A152V	A	-	2	0	DCTD	184051214	1.000000	0.71417	0.243000	0.24186	0.006000	0.05464	7.864000	0.87037	2.669000	0.90835	0.655000	0.94253	GCG	DCTD	-	superfamily_Cytidine_deaminase-like,pirsf_dCMP_deaminase		0.498	DCTD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DCTD	HGNC	protein_coding	OTTHUMT00000361743.2	G			183814220	-1	no_errors	ENST00000357067	ensembl	human	known	70_37	missense	SNP	0.931	A
DIAPH3	81624	genome.wustl.edu	37	13	60686168	60686168	+	Silent	SNP	G	G	A			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr13:60686168G>A	ENST00000400324.4	-	3	586	c.366C>T	c.(364-366)ctC>ctT	p.L122L	DIAPH3_ENST00000400320.1_Silent_p.L111L|DIAPH3_ENST00000400330.1_Silent_p.L122L|DIAPH3_ENST00000400319.1_Intron|DIAPH3_ENST00000267215.4_Silent_p.L122L|DIAPH3_ENST00000377908.2_Silent_p.L111L	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	122	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		AAAGTTCTAAGAGTTCATTCT	0.383																																																	0													120.0	113.0	115.0					13																	60686168		1825	4079	5904	SO:0001819	synonymous_variant	81624			AL137718	CCDS41898.1, CCDS58294.1, CCDS58295.1, CCDS58296.1, CCDS58297.1, CCDS73579.1, CCDS73580.1	13q21.2	2013-05-24	2013-05-24		ENSG00000139734	ENSG00000139734			15480	protein-coding gene	gene with protein product		614567	"""diaphanous (Drosophila, homolog) 3"", ""auditory neuropathy, autosomal dominant 1"", ""diaphanous homolog 3 (Drosophila)"""	AUNA1		14767582, 20624953	Standard	NM_030932		Approved	DRF3, FLJ34705, AN, NSDAN	uc001vht.4	Q9NSV4	OTTHUMG00000017004	ENST00000400324.4:c.366C>T	13.37:g.60686168G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A2A3B8|A2A3B9|A2A3C0|Q18P99|Q18PA0|Q18PA1|Q2KPB6|Q3ZK23|Q5JTP8|Q5T2S7|Q5XKF6|Q6MZF0|Q6NUP0|Q86VS4|Q8NAV4	Silent	SNP	pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,pfam_Drf_DAD,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg	p.L122	ENST00000400324.4	37	c.366	CCDS41898.1	13																																																																																			DIAPH3	-	pfam_Drf_GTPase-bd,superfamily_ARM-type_fold		0.383	DIAPH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DIAPH3	HGNC	protein_coding	OTTHUMT00000045166.3	G	NM_001042517		60686168	-1	no_errors	ENST00000400324	ensembl	human	known	70_37	silent	SNP	0.986	A
DICER1	23405	genome.wustl.edu	37	14	95590580	95590580	+	Silent	SNP	G	G	A			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr14:95590580G>A	ENST00000526495.1	-	10	1620	c.1329C>T	c.(1327-1329)tgC>tgT	p.C443C	DICER1_ENST00000393063.1_Silent_p.C443C|DICER1_ENST00000541352.1_Silent_p.C443C|DICER1_ENST00000527414.1_Silent_p.C443C|DICER1_ENST00000343455.3_Silent_p.C443C			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	443	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.|Required for interaction with PRKRA and TARBP2.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		AAATAATTCCGCACAAAATGT	0.388			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																														yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	"""dicer 1, ribonuclease type III """		"""E, M, O"""	0													73.0	78.0	76.0					14																	95590580		2202	4300	6502	SO:0001819	synonymous_variant	23405	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"""dicer 1, double-stranded RNA-specific endoribonuclease"""	606241	"""Dicer1, Dcr-1 homolog (Drosophila)"", ""multinodular goitre 1"""	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.1329C>T	14.37:g.95590580G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Silent	SNP	pfam_RNase_III_dom,pfam_PAZ,pfam_Dicer_dsRNA_binding_fold,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,superfamily_RNase_III_dom,superfamily_PAZ,smart_Helicase_ATP-bd,smart_Helicase_C,smart_PAZ,smart_RNase_III_dom,smart_Ds-RNA-bd,pfscan_PAZ,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Ds-RNA-bd,pfscan_RNase_III_dom	p.C443	ENST00000526495.1	37	c.1329	CCDS9931.1	14																																																																																			DICER1	-	pfscan_Helicase_C		0.388	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	DICER1	HGNC	protein_coding	OTTHUMT00000387997.1	G			95590580	-1	no_errors	ENST00000343455	ensembl	human	known	70_37	silent	SNP	0.992	A
DLG5	9231	genome.wustl.edu	37	10	79553837	79553837	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr10:79553837G>A	ENST00000372391.2	-	31	5590	c.5585C>T	c.(5584-5586)aCt>aTt	p.T1862I	DLG5_ENST00000372388.2_Missense_Mutation_p.T1522I|RP13-39P12.3_ENST00000434097.2_RNA|DLG5_ENST00000459739.1_5'UTR|RP13-39P12.3_ENST00000601701.1_RNA	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1862	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			ATGCCTCTGAGTCACCTTGTC	0.597																																																	0													253.0	206.0	222.0					10																	79553837		2203	4300	6503	SO:0001583	missense	9231			U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"""discs, large (Drosophila) homolog 5"""			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.5585C>T	10.37:g.79553837G>A	ENSP00000361467:p.Thr1862Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Missense_Mutation	SNP	pfam_PDZ,pfam_DUF622,pfam_Guanylate_kin,superfamily_PDZ,superfamily_SH3_domain,superfamily_DEATH-like,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_CARD,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin	p.T1862I	ENST00000372391.2	37	c.5585	CCDS7353.2	10	.	.	.	.	.	.	.	.	.	.	G	31	5.076272	0.94000	.	.	ENSG00000151208	ENST00000372391;ENST00000424842;ENST00000372388	T;T;T	0.45276	0.9;0.9;0.9	5.86	5.86	0.93980	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.000000	0.40222	N	0.001153	T	0.61726	0.2370	L	0.54323	1.7	0.54753	D	0.999989	D;D	0.71674	0.992;0.998	D;D	0.66497	0.944;0.915	T	0.61187	-0.7113	10	0.72032	D	0.01	.	20.1865	0.98220	0.0:0.0:1.0:0.0	.	1862;1522	Q8TDM6;Q8TDM6-2	DLG5_HUMAN;.	I	1862;823;1522	ENSP00000361467:T1862I;ENSP00000394797:T823I;ENSP00000361464:T1522I	ENSP00000361464:T1522I	T	-	2	0	DLG5	79223843	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	9.185000	0.94900	2.775000	0.95449	0.655000	0.94253	ACT	DLG5	-	pfam_Guanylate_kin,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_Guanylate_kin		0.597	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLG5	HGNC	protein_coding	OTTHUMT00000048900.2	G			79553837	-1	no_errors	ENST00000372391	ensembl	human	known	70_37	missense	SNP	1.000	A
DMXL2	23312	genome.wustl.edu	37	15	51857317	51857317	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr15:51857317G>A	ENST00000251076.5	-	4	619	c.332C>T	c.(331-333)tCt>tTt	p.S111F	DMXL2_ENST00000560421.1_5'UTR|DMXL2_ENST00000543779.2_Missense_Mutation_p.S111F|DMXL2_ENST00000449909.3_Missense_Mutation_p.S111F	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	111						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		GTATGTCACAGAACTCAAAAA	0.274																																																	0													34.0	34.0	34.0					15																	51857317		2195	4292	6487	SO:0001583	missense	23312			AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.332C>T	15.37:g.51857317G>A	ENSP00000251076:p.Ser111Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S111F	ENST00000251076.5	37	c.332	CCDS10141.1	15	.	.	.	.	.	.	.	.	.	.	G	22.3	4.273224	0.80580	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909	T;T;T	0.12672	2.66;2.66;2.66	4.9	4.9	0.64082	WD40 repeat-like-containing domain (1);	0.115720	0.64402	D	0.000013	T	0.27524	0.0676	L	0.52364	1.645	0.28413	N	0.918098	P;B;P	0.39391	0.671;0.265;0.542	P;B;B	0.51079	0.658;0.268;0.379	T	0.02539	-1.1144	10	0.56958	D	0.05	.	18.4421	0.90670	0.0:0.0:1.0:0.0	.	111;111;111	F5GWF1;B2RTR3;Q8TDJ6	.;.;DMXL2_HUMAN	F	111	ENSP00000251076:S111F;ENSP00000441858:S111F;ENSP00000400855:S111F	ENSP00000251076:S111F	S	-	2	0	DMXL2	49644609	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	8.091000	0.89528	2.419000	0.82065	0.655000	0.94253	TCT	DMXL2	-	superfamily_WD40_repeat_dom,smart_WD40_repeat		0.274	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	DMXL2	HGNC	protein_coding	OTTHUMT00000254671.2	G	NM_015263		51857317	-1	no_errors	ENST00000543779	ensembl	human	known	70_37	missense	SNP	1.000	A
DZIP1	22873	genome.wustl.edu	37	13	96241408	96241408	+	Splice_Site	DEL	G	G	-	rs371249353		TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr13:96241408delG	ENST00000376829.2	-	19	2878	c.2027delC	c.(2026-2028)acg>ag	p.T677fs	DZIP1_ENST00000347108.3_Splice_Site_p.T677fs|DZIP1_ENST00000361396.2_Splice_Site_p.T658fs|DZIP1_ENST00000361156.3_Splice_Site_p.T658fs	NM_198968.3	NP_945319.1	Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	677					cilium assembly (GO:0042384)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			CAATACTCACGTAATAGTTGA	0.303																																																	0													61.0	62.0	62.0					13																	96241408		2203	4300	6503	SO:0001630	splice_region_variant	22873			AB023213	CCDS9477.1, CCDS9478.1	13q32.1	2013-05-22	2013-05-22		ENSG00000134874	ENSG00000134874		"""Zinc fingers, C2H2-type"""	20908	protein-coding gene	gene with protein product		608671	"""DAZ interacting protein 1"""				Standard	NM_014934		Approved	KIAA0996, DZIP	uc001vmk.4	Q86YF9	OTTHUMG00000017224	ENST00000376829.2:c.2027+1C>-	13.37:g.96241408delG		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5W078|Q5W079|Q8WY45|Q8WY46|Q9UGA5|Q9Y2K0	Frame_Shift_Del	DEL	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T676fs	ENST00000376829.2	37	c.2027	CCDS9478.1	13																																																																																			DZIP1	-	NULL		0.303	DZIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DZIP1	HGNC	protein_coding	OTTHUMT00000045496.3	G	NM_014934	Frame_Shift_Del	96241408	-1	no_errors	ENST00000347108	ensembl	human	known	70_37	frame_shift_del	DEL	0.606	-
EGFLAM	133584	genome.wustl.edu	37	5	38370504	38370504	+	Missense_Mutation	SNP	G	G	T			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr5:38370504G>T	ENST00000354891.3	+	6	998	c.652G>T	c.(652-654)Gca>Tca	p.A218S	EGFLAM_ENST00000322350.5_Missense_Mutation_p.A218S	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	218	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)			NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					TGCCGTGAGGGCAATGAATTC	0.567																																					Colon(62;485 1295 3347 17454)												0													67.0	63.0	64.0					5																	38370504		2203	4300	6503	SO:0001583	missense	133584			AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"""Fibronectin type III domain containing"""	26810	protein-coding gene	gene with protein product	"""pikachurin"", ""agrin-like"""					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.652G>T	5.37:g.38370504G>T	ENSP00000346964:p.Ala218Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Fibronectin_type3,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Laminin_G	p.A218S	ENST00000354891.3	37	c.652	CCDS56363.1	5	.	.	.	.	.	.	.	.	.	.	G	34	5.392119	0.95988	.	.	ENSG00000164318	ENST00000354891;ENST00000322350	T;T	0.75704	-0.96;-0.96	5.82	5.82	0.92795	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.88800	0.6535	M	0.86864	2.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.89790	0.3967	10	0.87932	D	0	-2.1877	19.688	0.95987	0.0:0.0:1.0:0.0	.	218;218	Q63HQ2;Q63HQ2-2	EGFLA_HUMAN;.	S	218	ENSP00000346964:A218S;ENSP00000313084:A218S	ENSP00000313084:A218S	A	+	1	0	EGFLAM	38406261	1.000000	0.71417	0.967000	0.41034	0.995000	0.86356	8.676000	0.91199	2.756000	0.94617	0.561000	0.74099	GCA	EGFLAM	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.567	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	EGFLAM	HGNC	protein_coding	OTTHUMT00000367323.1	G	NM_152403		38370504	+1	no_errors	ENST00000354891	ensembl	human	known	70_37	missense	SNP	1.000	T
EHD4	30844	genome.wustl.edu	37	15	42192914	42192914	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr15:42192914C>T	ENST00000220325.4	-	6	1638	c.1555G>A	c.(1555-1557)Gag>Aag	p.E519K	RP11-23P13.6_ENST00000564432.2_RNA	NM_139265.3	NP_644670.1	Q9H223	EHD4_HUMAN	EH-domain containing 4	519	EH. {ECO:0000255|PROSITE- ProRule:PRU00077}.				cellular response to growth factor stimulus (GO:0071363)|endocytic recycling (GO:0032456)|pinocytosis (GO:0006907)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein homooligomerization (GO:0051260)|regulation of endocytosis (GO:0030100)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(7)|ovary(2)|stomach(1)|urinary_tract(1)	20		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)		CTGGGCAGCTCGTAGCCGTCG	0.652																																																	0													35.0	32.0	33.0					15																	42192914		2203	4299	6502	SO:0001583	missense	30844			AF181265	CCDS10081.1	15q11.1	2013-01-10			ENSG00000103966	ENSG00000103966		"""EF-hand domain containing"""	3245	protein-coding gene	gene with protein product		605892		PAST4		10673336, 11533061	Standard	NM_139265		Approved		uc001zot.3	Q9H223	OTTHUMG00000130370	ENST00000220325.4:c.1555G>A	15.37:g.42192914C>T	ENSP00000220325:p.Glu519Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9HAR1|Q9NZN2	Missense_Mutation	SNP	pfam_Dynamin_GTPase,smart_EPS15_homology,pfscan_EF_HAND_2,pfscan_EPS15_homology	p.E519K	ENST00000220325.4	37	c.1555	CCDS10081.1	15	.	.	.	.	.	.	.	.	.	.	C	29.4	4.999040	0.93227	.	.	ENSG00000103966	ENST00000220325	T	0.29917	1.55	4.83	4.83	0.62350	EPS15 homology (EH) (2);EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.53110	0.1776	M	0.65498	2.005	0.80722	D	1	D	0.71674	0.998	D	0.63793	0.918	T	0.56147	-0.8027	10	0.56958	D	0.05	-36.8485	18.2861	0.90114	0.0:1.0:0.0:0.0	.	519	Q9H223	EHD4_HUMAN	K	519	ENSP00000220325:E519K	ENSP00000220325:E519K	E	-	1	0	EHD4	39980206	1.000000	0.71417	0.998000	0.56505	0.911000	0.54048	7.759000	0.85235	2.394000	0.81467	0.543000	0.68304	GAG	EHD4	-	smart_EPS15_homology,pfscan_EPS15_homology		0.652	EHD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHD4	HGNC	protein_coding	OTTHUMT00000252737.2	C	NM_139265		42192914	-1	no_errors	ENST00000220325	ensembl	human	known	70_37	missense	SNP	1.000	T
EHMT1	79813	genome.wustl.edu	37	9	140622861	140622861	+	Nonsense_Mutation	SNP	G	G	T			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr9:140622861G>T	ENST00000460843.1	+	4	730	c.703G>T	c.(703-705)Gag>Tag	p.E235*	EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000462484.1_Nonsense_Mutation_p.E235*|EHMT1_ENST00000334856.6_Nonsense_Mutation_p.E204*	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	235					chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|embryo development (GO:0009790)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|methyltransferase activity (GO:0008168)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		GGAACCAAAAGAGGAGATCAA	0.443																																																	0													152.0	144.0	147.0					9																	140622861		2203	4300	6503	SO:0001587	stop_gained	79813			AY083210	CCDS7050.1, CCDS7050.2, CCDS56595.1	9q34.3	2013-09-20			ENSG00000181090	ENSG00000181090	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	24650	protein-coding gene	gene with protein product		607001	"""euchromatic histone methyltransferase 1"""			11347906, 12004135	Standard	NM_024757		Approved	Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D	uc011mfc.2	Q9H9B1	OTTHUMG00000020995	ENST00000460843.1:c.703G>T	9.37:g.140622861G>T	ENSP00000417980:p.Glu235*	Somatic		WXS	Illumina HiSeq	Phase_IV	B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	Nonsense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt	p.E235*	ENST00000460843.1	37	c.703	CCDS7050.2	9	.	.	.	.	.	.	.	.	.	.	G	38	6.973495	0.97975	.	.	ENSG00000181090	ENST00000334856;ENST00000371400;ENST00000462484;ENST00000460843	.	.	.	5.72	5.72	0.89469	.	0.224154	0.39407	N	0.001375	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	.	18.0591	0.89371	0.0:0.0:1.0:0.0	.	.	.	.	X	204;204;235;235	.	ENSP00000334476:E204X	E	+	1	0	EHMT1	139742682	1.000000	0.71417	0.916000	0.36221	0.953000	0.61014	5.885000	0.69736	2.705000	0.92388	0.585000	0.79938	GAG	EHMT1	-	NULL		0.443	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHMT1	HGNC	protein_coding	OTTHUMT00000055371.2	G	NM_024757		140622861	+1	no_errors	ENST00000460843	ensembl	human	known	70_37	nonsense	SNP	1.000	T
EIF2B1	1967	genome.wustl.edu	37	12	124111692	124111692	+	Silent	SNP	A	A	T			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr12:124111692A>T	ENST00000424014.2	-	5	589	c.381T>A	c.(379-381)acT>acA	p.T127T	EIF2B1_ENST00000537073.1_Silent_p.T127T|EIF2B1_ENST00000539951.1_Silent_p.T114T	NM_001414.3	NP_001405.1	Q14232	EI2BA_HUMAN	eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa	127					cellular protein metabolic process (GO:0044267)|cellular response to stimulus (GO:0051716)|gene expression (GO:0010467)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|positive regulation of GTPase activity (GO:0043547)|regulation of translational initiation (GO:0006446)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)|membrane (GO:0016020)|plasma membrane (GO:0005886)	enzyme regulator activity (GO:0030234)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|translation initiation factor activity (GO:0003743)			breast(1)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.67e-05)|Epithelial(86;0.000353)|all cancers(50;0.00489)		AGTAGGCGTGAGTCAATATTG	0.552																																																	0													110.0	94.0	100.0					12																	124111692		2203	4300	6503	SO:0001819	synonymous_variant	1967			X95648	CCDS31924.1	12q24.3	1998-10-16	2002-08-29		ENSG00000111361	ENSG00000111361			3257	protein-coding gene	gene with protein product		606686	"""eukaryotic translation initiation factor 2B, subunit 1 (alpha, 26kD)"""	EIF2B			Standard	NM_001414		Approved	EIF-2Balpha, EIF-2B, EIF2BA	uc001ufm.3	Q14232	OTTHUMG00000168696	ENST00000424014.2:c.381T>A	12.37:g.124111692A>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NLY9|B4DGX0|Q3SXP4	Silent	SNP	pfam_IF-2B-related	p.T127	ENST00000424014.2	37	c.381	CCDS31924.1	12																																																																																			EIF2B1	-	pfam_IF-2B-related		0.552	EIF2B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2B1	HGNC	protein_coding	OTTHUMT00000400628.1	A	NM_001414		124111692	-1	no_errors	ENST00000424014	ensembl	human	known	70_37	silent	SNP	0.980	T
AGO2	27161	genome.wustl.edu	37	8	141559340	141559340	+	Silent	SNP	G	G	T			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr8:141559340G>T	ENST00000220592.5	-	12	1573	c.1461C>A	c.(1459-1461)ggC>ggA	p.G487G	AGO2_ENST00000519980.1_Silent_p.G487G	NM_012154.3	NP_036286.2	Q9UKV8	AGO2_HUMAN	argonaute RISC catalytic component 2	487					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|regulation of transcription, DNA-templated (GO:0006355)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|mRNA cap binding complex (GO:0005845)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|RISC complex (GO:0016442)	endoribonuclease activity (GO:0004521)|endoribonuclease activity, cleaving siRNA-paired mRNA (GO:0070551)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA 7-methylguanosine cap binding (GO:0000340)|siRNA binding (GO:0035197)|translation initiation factor activity (GO:0003743)										AGCACGGCTGGCCCTGGATGG	0.627																																																	0													46.0	44.0	44.0					8																	141559340		2202	4300	6502	SO:0001819	synonymous_variant	27161			AF121255	CCDS6380.1, CCDS55279.1	8q24.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000123908	ENSG00000123908		"""Argonaute/PIWI family"""	3263	protein-coding gene	gene with protein product	"""argonaute 2"""	606229	"""eukaryotic translation initiation factor 2C, 2"""	EIF2C2		10534406, 12906857	Standard	NM_012154		Approved	hAGO2, Q10	uc003yvn.3	Q9UKV8	OTTHUMG00000164232	ENST00000220592.5:c.1461C>A	8.37:g.141559340G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8TCZ5|Q8WV58|Q96ID1	Silent	SNP	pfam_Piwi,pfam_PAZ,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi	p.G487	ENST00000220592.5	37	c.1461	CCDS6380.1	8																																																																																			EIF2C2	-	NULL		0.627	AGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2C2	HGNC	protein_coding	OTTHUMT00000377866.4	G			141559340	-1	no_errors	ENST00000220592	ensembl	human	known	70_37	silent	SNP	0.995	T
SLC6A10PB	653562	genome.wustl.edu	37	16	32896538	32896538	+	lincRNA	SNP	G	G	A			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr16:32896538G>A	ENST00000398669.2	+	0	0				SLC6A10P_ENST00000330048.5_RNA																							agggggccgcggggggcgggg	0.736																																																	0																																												0																															16.37:g.32896538G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000398669.2	37	NULL		16																																																																																			RP11-989E6.3	-	-		0.736	RP11-989E6.3-002	KNOWN	basic	lincRNA	ENSG00000214614	Clone_based_vega_gene	lincRNA	OTTHUMT00000432084.1	G			32896538	+1	no_errors	ENST00000566260	ensembl	human	known	70_37	rna	SNP	0.005	A
GS1-256O22.5	0	genome.wustl.edu	37	X	142534119	142534119	+	RNA	SNP	A	A	T			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chrX:142534119A>T	ENST00000431432.1	+	0	268				AL030997.1_ENST00000408578.1_RNA																							agtaccaatgataaatcacta	0.313																																																	0																																												0																															X.37:g.142534119A>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000431432.1	37	NULL		X																																																																																			AL030997.1	-	-		0.313	GS1-256O22.5-001	KNOWN	basic	antisense	ENSG00000221505	Clone_based_ensembl_gene	antisense	OTTHUMT00000058622.1	A			142534119	-1	no_errors	ENST00000408578	ensembl	human	novel	70_37	rna	SNP	0.000	T
LOC101929350	101929350	genome.wustl.edu	37	22	17229222	17229223	+	lincRNA	DEL	CC	CC	-	rs148433359		TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	CC	CC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr22:17229222_17229223delCC	ENST00000422917.1	-	0	312_313																											tccccggactccgtctgctgtt	0.639																																																	0																																												0																															22.37:g.17229222_17229223delCC		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	DEL	-	NULL	ENST00000422917.1	37	NULL		22																																																																																			AC005301.8	-	-		0.639	AC005301.8-001	KNOWN	basic	lincRNA	ENSG00000235343	Clone_based_vega_gene	lincRNA	OTTHUMT00000331389.1	CC			17229223	-1	no_errors	ENST00000422917	ensembl	human	known	70_37	rna	DEL	0.027:0.027	-
KIAA1614	57710	genome.wustl.edu	37	1	180913457	180913457	+	Intron	SNP	G	G	A			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr1:180913457G>A	ENST00000367588.4	+	8	3214				RP11-46A10.5_ENST00000358073.2_RNA|KIAA1614_ENST00000367587.1_Intron|KIAA1614_ENST00000461346.1_Intron	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614											NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						TTCATGGTGGGGCCAAGTCCT	0.507																																																	0																																										SO:0001627	intron_variant	0			AB046834	CCDS41442.1	1q25.3	2008-02-05			ENSG00000135835	ENSG00000135835			29327	protein-coding gene	gene with protein product							Standard	NM_020950		Approved		uc001gok.2	Q5VZ46	OTTHUMG00000035183	ENST00000367588.4:c.3160-68G>A	1.37:g.180913457G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VZ45|Q9HCF8	RNA	SNP	-	NULL	ENST00000367588.4	37	NULL	CCDS41442.1	1																																																																																			RP11-46A10.5	-	-		0.507	KIAA1614-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ENSG00000243155	Clone_based_vega_gene	protein_coding	OTTHUMT00000085151.1	G	XM_046531		180913457	-1	no_errors	ENST00000358073	ensembl	human	known	70_37	rna	SNP	0.003	A
SIGLEC10	89790	genome.wustl.edu	37	19	51919740	51919740	+	Intron	SNP	G	G	A	rs546288458	byFrequency	TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr19:51919740G>A	ENST00000339313.5	-	4	823				CTD-2616J11.2_ENST00000532688.1_RNA|SIGLEC10_ENST00000436984.2_Intron|SIGLEC10_ENST00000441969.3_Intron|SIGLEC10_ENST00000442846.3_Intron|SIGLEC10_ENST00000432469.2_Intron|SIGLEC10_ENST00000439889.2_Intron|SIGLEC10_ENST00000353836.5_Intron|SIGLEC10_ENST00000525998.1_Intron|CTD-2616J11.3_ENST00000532473.1_RNA|SIGLEC10_ENST00000356298.5_Intron|CTD-2616J11.2_ENST00000526996.1_RNA			Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10						cell adhesion (GO:0007155)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		CAGGGCTCACGTGTGTGGACC	0.602													g|||	3	0.000599042	0.0008	0.0	5008	,	,		15893	0.001		0.0	False		,,,				2504	0.001																0																																										SO:0001627	intron_variant	0			AF310233	CCDS12832.1, CCDS54301.1, CCDS54302.1, CCDS54303.1, CCDS54304.1, CCDS54305.1	19q13.3	2013-01-29			ENSG00000142512	ENSG00000142512		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15620	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 10 Ig-like lectin 7"", ""siglec-like gene 2"""	606091				11284738	Standard	NM_033130		Approved	SIGLEC-10, SLG2, PRO940, MGC126774	uc002pwo.3	Q96LC7	OTTHUMG00000165521	ENST00000339313.5:c.707-129C>T	19.37:g.51919740G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K1I5|A8K3C7|C9JJ33|C9JM10|F8W917|Q3MIR5|Q6UXI8|Q96G54|Q96LC8	RNA	SNP	-	NULL	ENST00000339313.5	37	NULL	CCDS12832.1	19																																																																																			CTD-2616J11.2	-	-		0.602	SIGLEC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ENSG00000255441	Clone_based_vega_gene	protein_coding	OTTHUMT00000384620.2	G	NM_033130		51919740	+1	no_errors	ENST00000526996	ensembl	human	known	70_37	rna	SNP	0.000	A
FAM153A	285596	genome.wustl.edu	37	5	177180192	177180192	+	Intron	SNP	T	T	G			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr5:177180192T>G	ENST00000440605.3	-	2	228				FAM153A_ENST00000393518.3_Intron|FAM153A_ENST00000510276.1_Intron|FAM153A_ENST00000513554.1_Intron	NM_173663.3	NP_775934.3	Q9UHL3	F153A_HUMAN	family with sequence similarity 153, member A											kidney(6)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|stomach(1)	11	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGGCAACAACTATAAACACAT	0.388																																																	0																																										SO:0001627	intron_variant	285596			AB018295	CCDS34305.1	5q35.3	2010-05-12			ENSG00000170074	ENSG00000170074			29940	protein-coding gene	gene with protein product	"""NY REN 7 antigen"""					10508479, 9872452	Standard	NM_173663		Approved	NY-REN-7	uc003mic.3	Q9UHL3	OTTHUMG00000163394	ENST00000440605.3:c.56-4492A>C	5.37:g.177180192T>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K0F3|O94852	Missense_Mutation	SNP	NULL	p.S6R	ENST00000440605.3	37	c.16	CCDS34305.1	5	.	.	.	.	.	.	.	.	.	.	T	0.044	-1.272409	0.01421	.	.	ENSG00000170074	ENST00000440977;ENST00000504518	.	.	.	0.747	-0.916	0.10489	.	.	.	.	.	T	0.34395	0.0896	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.38373	-0.9664	5	0.87932	D	0	.	2.7952	0.05399	0.5438:0.0:0.0:0.4562	.	.	.	.	R	6	.	ENSP00000412917:S6R	S	-	1	0	FAM153A	177112798	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.532000	0.06164	-0.275000	0.09219	-0.753000	0.03488	AGT	FAM153A	-	NULL		0.388	FAM153A-022	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	FAM153A	HGNC	protein_coding	OTTHUMT00000417242.1	T	NM_173663		177180192	-1	no_errors	ENST00000503845	ensembl	human	known	70_37	missense	SNP	0.001	G
FAM188B	84182	genome.wustl.edu	37	7	30898883	30898883	+	Missense_Mutation	SNP	G	G	A	rs561526056		TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr7:30898883G>A	ENST00000265299.6	+	13	1765	c.1688G>A	c.(1687-1689)gGc>gAc	p.G563D	AQP1_ENST00000509504.1_Missense_Mutation_p.G26D|AQP1_ENST00000434909.2_5'UTR|INMT-FAM188B_ENST00000458257.1_3'UTR	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	563										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TTTGAAGTGGGCCCCTATGGC	0.592													G|||	0	0.0	0.0	0.0	5008	,	,		20712	0.0		0.0	False		,,,				2504	0.0																0													107.0	117.0	114.0					7																	30898883		2039	4196	6235	SO:0001583	missense	84182			AK026027	CCDS43565.1	7p14.3	2010-08-17	2009-07-14	2009-07-14	ENSG00000106125	ENSG00000106125			21916	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 67"""	C7orf67			Standard	NM_032222		Approved	FLJ22374	uc003tbt.3	Q4G0A6	OTTHUMG00000152800	ENST00000265299.6:c.1688G>A	7.37:g.30898883G>A	ENSP00000265299:p.Gly563Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	Q71AZ7|Q9H6D2	Missense_Mutation	SNP	NULL	p.G563D	ENST00000265299.6	37	c.1688	CCDS43565.1	7	.	.	.	.	.	.	.	.	.	.	G	17.44	3.390768	0.62066	.	.	ENSG00000106125;ENSG00000106125;ENSG00000250424	ENST00000265299;ENST00000409881;ENST00000509504	T;T	0.31769	1.48;1.48	5.26	5.26	0.73747	.	0.051282	0.85682	D	0.000000	T	0.46560	0.1399	L	0.41824	1.3	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.77004	0.982;0.989	T	0.43376	-0.9395	10	0.87932	D	0	-21.7232	14.3483	0.66682	0.0:0.0:1.0:0.0	.	83;563	B8ZZX1;Q4G0A6	.;F188B_HUMAN	D	563;83;26	ENSP00000265299:G563D;ENSP00000421315:G26D	ENSP00000265299:G563D	G	+	2	0	RP5-877J2.1;FAM188B	30865408	1.000000	0.71417	0.798000	0.32154	0.713000	0.41058	6.005000	0.70716	2.458000	0.83093	0.561000	0.74099	GGC	FAM188B	-	NULL		0.592	FAM188B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM188B	HGNC	protein_coding	OTTHUMT00000327962.1	G	NM_032222		30898883	+1	no_errors	ENST00000265299	ensembl	human	known	70_37	missense	SNP	0.949	A
FAM208B	54906	genome.wustl.edu	37	10	5790767	5790767	+	Missense_Mutation	SNP	G	G	C			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr10:5790767G>C	ENST00000328090.5	+	15	6008	c.5383G>C	c.(5383-5385)Gag>Cag	p.E1795Q		NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	1795																	CGTAGAAATTGAGAACAGTGG	0.493																																																	0													67.0	67.0	67.0					10																	5790767		1877	4123	6000	SO:0001583	missense	54906			BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 18"""	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.5383G>C	10.37:g.5790767G>C	ENSP00000328426:p.Glu1795Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Missense_Mutation	SNP	pfam_DUF3715,pfam_DUF3699	p.E1795Q	ENST00000328090.5	37	c.5383	CCDS41485.1	10	.	.	.	.	.	.	.	.	.	.	G	11.92	1.784005	0.31593	.	.	ENSG00000108021	ENST00000328090;ENST00000442808	T	0.05258	3.47	5.73	0.45	0.16624	.	1.026640	0.07711	N	0.942137	T	0.04907	0.0132	L	0.27053	0.805	0.09310	N	1	B	0.29432	0.244	B	0.25140	0.058	T	0.46596	-0.9180	10	0.24483	T	0.36	.	8.5807	0.33626	0.3702:0.0:0.6298:0.0	.	1795	Q5VWN6	F208B_HUMAN	Q	1795;990	ENSP00000328426:E1795Q	ENSP00000328426:E1795Q	E	+	1	0	C10orf18	5830773	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.125000	0.15749	0.094000	0.17404	0.563000	0.77884	GAG	FAM208B	-	NULL		0.493	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM208B	HGNC	protein_coding	OTTHUMT00000046571.2	G	NM_017782		5790767	+1	no_errors	ENST00000328090	ensembl	human	known	70_37	missense	SNP	0.000	C
FAM208B	54906	genome.wustl.edu	37	10	5791144	5791144	+	Silent	SNP	G	G	C	rs548180605		TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr10:5791144G>C	ENST00000328090.5	+	15	6385	c.5760G>C	c.(5758-5760)ggG>ggC	p.G1920G		NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	1920																	ATCTCCACGGGATCCTCAGGA	0.527																																																	0													38.0	40.0	39.0					10																	5791144		1991	4162	6153	SO:0001819	synonymous_variant	54906			BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 18"""	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.5760G>C	10.37:g.5791144G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Silent	SNP	pfam_DUF3715,pfam_DUF3699	p.G1920	ENST00000328090.5	37	c.5760	CCDS41485.1	10																																																																																			FAM208B	-	NULL		0.527	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM208B	HGNC	protein_coding	OTTHUMT00000046571.2	G	NM_017782		5791144	+1	no_errors	ENST00000328090	ensembl	human	known	70_37	silent	SNP	0.108	C
FAM208B	54906	genome.wustl.edu	37	10	5791198	5791198	+	Missense_Mutation	SNP	G	G	C	rs200720899		TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr10:5791198G>C	ENST00000328090.5	+	15	6439	c.5814G>C	c.(5812-5814)atG>atC	p.M1938I		NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	1938																	AAGATACCATGAGAACTTCAC	0.537																																																	0								G	ILE/MET	0,4064		0,0,2032	39.0	41.0	40.0		5814	-10.9	0.0	10		40	1,8361		0,1,4180	yes	missense	FAM208B	NM_017782.4	10	0,1,6212	CC,CG,GG		0.012,0.0,0.0080	benign	1938/2431	5791198	1,12425	2032	4181	6213	SO:0001583	missense	54906			BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 18"""	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.5814G>C	10.37:g.5791198G>C	ENSP00000328426:p.Met1938Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Missense_Mutation	SNP	pfam_DUF3715,pfam_DUF3699	p.M1938I	ENST00000328090.5	37	c.5814	CCDS41485.1	10	.	.	.	.	.	.	.	.	.	.	G	5.228	0.227491	0.09916	0.0	1.2E-4	ENSG00000108021	ENST00000328090;ENST00000442808	T	0.04275	3.66	5.46	-10.9	0.00192	.	0.802103	0.11326	N	0.575585	T	0.01695	0.0054	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.41520	-0.9504	10	0.54805	T	0.06	.	3.8004	0.08756	0.5833:0.141:0.0974:0.1783	.	1938	Q5VWN6	F208B_HUMAN	I	1938;1133	ENSP00000328426:M1938I	ENSP00000328426:M1938I	M	+	3	0	C10orf18	5831204	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-3.375000	0.00493	-2.484000	0.00521	-1.012000	0.02466	ATG	FAM208B	-	NULL		0.537	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM208B	HGNC	protein_coding	OTTHUMT00000046571.2	G	NM_017782		5791198	+1	no_errors	ENST00000328090	ensembl	human	known	70_37	missense	SNP	0.000	C
FAM208B	54906	genome.wustl.edu	37	10	5791687	5791687	+	Silent	SNP	G	G	C			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr10:5791687G>C	ENST00000328090.5	+	15	6928	c.6303G>C	c.(6301-6303)gtG>gtC	p.V2101V		NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	2101																	ACAGTACTGTGAAGGAATCTC	0.353																																																	0													61.0	58.0	59.0					10																	5791687		1872	4110	5982	SO:0001819	synonymous_variant	54906			BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 18"""	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.6303G>C	10.37:g.5791687G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Silent	SNP	pfam_DUF3715,pfam_DUF3699	p.V2101	ENST00000328090.5	37	c.6303	CCDS41485.1	10																																																																																			FAM208B	-	NULL		0.353	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM208B	HGNC	protein_coding	OTTHUMT00000046571.2	G	NM_017782		5791687	+1	no_errors	ENST00000328090	ensembl	human	known	70_37	silent	SNP	0.819	C
FBN3	84467	genome.wustl.edu	37	19	8151189	8151189	+	Missense_Mutation	SNP	G	G	C			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr19:8151189G>C	ENST00000600128.1	-	55	7189	c.6775C>G	c.(6775-6777)Cag>Gag	p.Q2259E	FBN3_ENST00000601739.1_Missense_Mutation_p.Q2259E|FBN3_ENST00000270509.2_Missense_Mutation_p.Q2259E			Q75N90	FBN3_HUMAN	fibrillin 3	2259	EGF-like 37; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						AGGTCAGGCTGAGCGTGGCAT	0.647																																																	0													98.0	85.0	89.0					19																	8151189		2203	4300	6503	SO:0001583	missense	84467				CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.6775C>G	19.37:g.8151189G>C	ENSP00000470498:p.Gln2259Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,pirsf_FBN,pfscan_EG-like_dom	p.Q2259E	ENST00000600128.1	37	c.6775	CCDS12196.1	19	.	.	.	.	.	.	.	.	.	.	G	12.10	1.835465	0.32421	.	.	ENSG00000142449	ENST00000270509;ENST00000341066	D	0.91686	-2.89	4.44	-1.1	0.09872	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.062950	0.64402	U	0.000011	D	0.83658	0.5302	N	0.13327	0.33	0.26572	N	0.973533	P;P	0.46621	0.881;0.826	P;B	0.47864	0.559;0.371	T	0.78628	-0.2130	10	0.17832	T	0.49	.	9.0458	0.36345	0.0:0.1123:0.2347:0.6529	.	2259;365	Q75N90;Q6ZNB8	FBN3_HUMAN;.	E	2259;365	ENSP00000270509:Q2259E	ENSP00000270509:Q2259E	Q	-	1	0	FBN3	8057189	1.000000	0.71417	0.085000	0.20634	0.001000	0.01503	4.100000	0.57762	-0.036000	0.13669	-0.324000	0.08512	CAG	FBN3	-	pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom		0.647	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN3	HGNC	protein_coding	OTTHUMT00000461428.2	G	NM_032447		8151189	-1	no_errors	ENST00000270509	ensembl	human	known	70_37	missense	SNP	0.995	C
FBXL14	144699	genome.wustl.edu	37	12	1702314	1702314	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr12:1702314G>A	ENST00000339235.3	-	1	1017	c.919C>T	c.(919-921)Ctc>Ttc	p.L307F	WNT5B_ENST00000537031.1_Intron|FBXL14_ENST00000543278.1_5'Flank	NM_152441.2	NP_689654.1	Q8N1E6	FXL14_HUMAN	F-box and leucine-rich repeat protein 14	307					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	8	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00115)			AGAGACTTGAGGCCATCCAGC	0.602																																																	0													97.0	79.0	85.0					12																	1702314		2203	4300	6503	SO:0001583	missense	144699			BC028132	CCDS8509.1	12p13.33	2011-06-09			ENSG00000171823	ENSG00000171823		"""F-boxes / Leucine-rich repeats"""	28624	protein-coding gene	gene with protein product		609081				12477932	Standard	NM_152441		Approved	MGC40195, Fbl14	uc001qjh.3	Q8N1E6	OTTHUMG00000090369	ENST00000339235.3:c.919C>T	12.37:g.1702314G>A	ENSP00000344855:p.Leu307Phe	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_F-box_dom_cyclin-like,pfam_Leu-rich_rpt_2,superfamily_F-box_dom_cyclin-like,smart_Leu-rich_rpt_Cys-con_subtyp	p.L307F	ENST00000339235.3	37	c.919	CCDS8509.1	12	.	.	.	.	.	.	.	.	.	.	G	19.35	3.811405	0.70797	.	.	ENSG00000171823	ENST00000339235	T	0.80214	-1.35	4.85	4.85	0.62838	.	0.000000	0.64402	D	0.000003	D	0.92990	0.7769	H	0.97962	4.115	0.58432	D	0.999999	D	0.76494	0.999	D	0.80764	0.994	D	0.94691	0.7874	10	0.87932	D	0	.	12.5779	0.56373	0.0797:0.0:0.9203:0.0	.	307	Q8N1E6	FXL14_HUMAN	F	307	ENSP00000344855:L307F	ENSP00000344855:L307F	L	-	1	0	FBXL14	1572575	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.714000	0.84703	2.495000	0.84180	0.650000	0.86243	CTC	FBXL14	-	pfam_Leu-rich_rpt_2,smart_Leu-rich_rpt_Cys-con_subtyp		0.602	FBXL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXL14	HGNC	protein_coding	OTTHUMT00000206741.1	G	NM_152441		1702314	-1	no_errors	ENST00000339235	ensembl	human	known	70_37	missense	SNP	1.000	A
FBXL15	79176	genome.wustl.edu	37	10	104182625	104182625	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr10:104182625G>A	ENST00000224862.3	+	4	2094	c.778G>A	c.(778-780)Gag>Aag	p.E260K	PSD_ENST00000492902.2_5'Flank|CUEDC2_ENST00000465409.1_5'Flank|PSD_ENST00000406432.1_5'Flank|FBXL15_ENST00000369956.2_Missense_Mutation_p.E256K	NM_024326.3	NP_077302.3	Q9H469	FXL15_HUMAN	F-box and leucine-rich repeat protein 15	260	Interaction with SMURF1.				bone mineralization (GO:0030282)|dorsal/ventral pattern formation (GO:0009953)|G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of BMP signaling pathway (GO:0030513)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)				kidney(1)	1		Colorectal(252;0.207)		Epithelial(162;1.19e-08)|all cancers(201;2.65e-07)		CCATGTGGCGGAGTCCAGCCT	0.687											OREG0020479	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													19.0	20.0	20.0					10																	104182625		2201	4298	6499	SO:0001583	missense	79176			BC036120	CCDS31273.1	10q24.32	2011-06-09	2004-06-15	2004-06-16	ENSG00000107872	ENSG00000107872		"""F-boxes / Leucine-rich repeats"""	28155	protein-coding gene	gene with protein product		610287	"""F-box only protein 37"""	FBXO37			Standard	NM_024326		Approved	MGC11279, Fbl15	uc001kvk.2	Q9H469	OTTHUMG00000018957	ENST00000224862.3:c.778G>A	10.37:g.104182625G>A	ENSP00000224862:p.Glu260Lys	Somatic	1379	WXS	Illumina HiSeq	Phase_IV	A1L4J8|B1AKX8|B1AKX9|B1AKY0|B1AKY1|C9JWA4|Q0D2Q3|Q49AL7|Q5JWA5	Missense_Mutation	SNP	pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_Leu-rich_rpt_Cys-con_subtyp	p.E260K	ENST00000224862.3	37	c.778	CCDS31273.1	10	.	.	.	.	.	.	.	.	.	.	G	34	5.348631	0.95807	.	.	ENSG00000107872	ENST00000224862;ENST00000369956	T;T	0.17528	2.27;2.27	4.16	4.16	0.48862	.	0.116706	0.56097	D	0.000022	T	0.40694	0.1127	M	0.67569	2.06	0.80722	D	1	D	0.63880	0.993	D	0.72625	0.978	T	0.41124	-0.9526	10	0.87932	D	0	.	16.6646	0.85249	0.0:0.0:1.0:0.0	.	260	Q9H469	FXL15_HUMAN	K	260;256	ENSP00000224862:E260K;ENSP00000358972:E256K	ENSP00000224862:E260K	E	+	1	0	FBXL15	104172615	1.000000	0.71417	0.996000	0.52242	0.948000	0.59901	9.150000	0.94667	2.155000	0.67459	0.313000	0.20887	GAG	FBXL15	-	smart_Leu-rich_rpt_Cys-con_subtyp		0.687	FBXL15-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FBXL15	HGNC	protein_coding		G	XM_370575		104182625	+1	no_errors	ENST00000224862	ensembl	human	known	70_37	missense	SNP	1.000	A
FERMT3	83706	genome.wustl.edu	37	11	63986736	63986736	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr11:63986736G>A	ENST00000279227.5	+	7	895	c.800G>A	c.(799-801)cGg>cAg	p.R267Q	FERMT3_ENST00000345728.5_Missense_Mutation_p.R267Q	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN	fermitin family member 3	267	FERM.				integrin activation (GO:0033622)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|platelet aggregation (GO:0070527)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|substrate adhesion-dependent cell spreading (GO:0034446)	cell junction (GO:0030054)|cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|podosome (GO:0002102)	integrin binding (GO:0005178)			breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						GACCCCGTGCGGCTGACACAG	0.662																																																	0													22.0	22.0	22.0					11																	63986736		2195	4294	6489	SO:0001583	missense	83706			L25343	CCDS8059.1, CCDS8060.1	11q13.1	2014-09-17	2010-06-24		ENSG00000149781	ENSG00000149781		"""Fermitins"", ""Pleckstrin homology (PH) domain containing"""	23151	protein-coding gene	gene with protein product	"""kindlin-3"""	607901	"""fermitin family homolog 3 (Drosophila)"""				Standard	NM_178443		Approved	URP2, KIND3, MIG2B, MGC10966, MIG-2, UNC112C	uc001nym.2	Q86UX7	OTTHUMG00000167790	ENST00000279227.5:c.800G>A	11.37:g.63986736G>A	ENSP00000279227:p.Arg267Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8IUA1|Q8N207|Q9BT48	Missense_Mutation	SNP	pfam_FERM_central,pfam_Pleckstrin_homology,superfamily_FERM_central,smart_Band_41_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.R267Q	ENST00000279227.5	37	c.800	CCDS8060.1	11	.	.	.	.	.	.	.	.	.	.	G	26.0	4.695511	0.88830	.	.	ENSG00000149781	ENST00000544997;ENST00000345728;ENST00000279227	T;T;T	0.80123	-1.34;-1.34;-1.34	5.04	5.04	0.67666	Band 4.1 domain (1);FERM central domain (2);	0.000000	0.85682	D	0.000000	D	0.89515	0.6737	M	0.80847	2.515	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.995;0.998	D	0.87676	0.2544	10	0.27082	T	0.32	-35.7929	17.5227	0.87792	0.0:0.0:1.0:0.0	.	267;267	Q86UX7-2;Q86UX7	.;URP2_HUMAN	Q	267	ENSP00000445778:R267Q;ENSP00000339950:R267Q;ENSP00000279227:R267Q	ENSP00000279227:R267Q	R	+	2	0	FERMT3	63743312	1.000000	0.71417	1.000000	0.80357	0.452000	0.32318	9.540000	0.98080	2.513000	0.84729	0.563000	0.77884	CGG	FERMT3	-	pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain		0.662	FERMT3-001	KNOWN	basic|CCDS	protein_coding	FERMT3	HGNC	protein_coding	OTTHUMT00000396297.1	G	NM_031471		63986736	+1	no_errors	ENST00000279227	ensembl	human	known	70_37	missense	SNP	1.000	A
LINC01597	400841	genome.wustl.edu	37	20	29516772	29516772	+	lincRNA	SNP	G	G	A			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr20:29516772G>A	ENST00000380888.3	-	0	137																											tccgagggtcgttctcgtcga	0.552																																																	0																																												400841																															20.37:g.29516772G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000380888.3	37	NULL		20																																																																																			RP4-610C12.4	-	-		0.552	RP4-610C12.4-001	KNOWN	basic	lincRNA	FLJ45832	Clone_based_vega_gene	lincRNA	OTTHUMT00000256907.1	G			29516772	-1	no_errors	ENST00000380888	ensembl	human	known	70_37	rna	SNP	0.024	A
FNBP4	23360	genome.wustl.edu	37	11	47758253	47758253	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr11:47758253G>A	ENST00000263773.5	-	9	1508	c.1496C>T	c.(1495-1497)tCa>tTa	p.S499L	FNBP4_ENST00000534003.1_5'UTR	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	499						nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						CTCTTTATCTGAATTCTCATC	0.289																																																	0													114.0	98.0	103.0					11																	47758253		1786	4060	5846	SO:0001583	missense	23360			BC037404	CCDS41644.1	11q12.1	2008-02-05			ENSG00000109920	ENSG00000109920			19752	protein-coding gene	gene with protein product		615265				10231032	Standard	NM_015308		Approved	KIAA1014	uc009ylv.3	Q8N3X1	OTTHUMG00000166533	ENST00000263773.5:c.1496C>T	11.37:g.47758253G>A	ENSP00000263773:p.Ser499Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9H985|Q9NT81|Q9Y2L7	Missense_Mutation	SNP	pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP	p.S499L	ENST00000263773.5	37	c.1496	CCDS41644.1	11	.	.	.	.	.	.	.	.	.	.	G	25.5	4.640308	0.87859	.	.	ENSG00000109920	ENST00000263773	T	0.12672	2.66	5.66	5.66	0.87406	.	0.471757	0.23819	N	0.044242	T	0.17066	0.0410	L	0.29908	0.895	0.54753	D	0.99998	D	0.53151	0.958	P	0.47827	0.558	T	0.00303	-1.1833	10	0.66056	D	0.02	-17.3962	16.8398	0.85965	0.0:0.0:1.0:0.0	.	499	Q8N3X1	FNBP4_HUMAN	L	499	ENSP00000263773:S499L	ENSP00000263773:S499L	S	-	2	0	FNBP4	47714829	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.290000	0.65661	2.831000	0.97527	0.650000	0.86243	TCA	FNBP4	-	NULL		0.289	FNBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FNBP4	HGNC	protein_coding	OTTHUMT00000390237.3	G			47758253	-1	no_errors	ENST00000263773	ensembl	human	known	70_37	missense	SNP	1.000	A
FREM3	166752	genome.wustl.edu	37	4	144617829	144617829	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr4:144617829C>T	ENST00000329798.5	-	1	3999	c.4000G>A	c.(4000-4002)Gat>Aat	p.D1334N		NM_001168235.1	NP_001161707.1	P0C091	FREM3_HUMAN	FRAS1 related extracellular matrix 3	1334					cell adhesion (GO:0007155)|cell communication (GO:0007154)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|prostate(1)	8						GAGTCAAGATCTGTGGCCTTG	0.478																																																	0													153.0	128.0	135.0					4																	144617829		692	1591	2283	SO:0001583	missense	166752			BX091796	CCDS54808.1	4q31.21	2011-06-09			ENSG00000183090	ENSG00000183090			25172	protein-coding gene	gene with protein product		608946				15345741	Standard	NM_001168235		Approved		uc021xsj.1	P0C091	OTTHUMG00000161577	ENST00000329798.5:c.4000G>A	4.37:g.144617829C>T	ENSP00000332886:p.Asp1334Asn	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta	p.D1334N	ENST00000329798.5	37	c.4000	CCDS54808.1	4	.	.	.	.	.	.	.	.	.	.	C	23.8	4.461182	0.84317	.	.	ENSG00000183090	ENST00000329798	T	0.66995	-0.24	4.33	4.33	0.51752	.	0.000000	0.85682	D	0.000000	D	0.87799	0.6268	H	0.97540	4.025	0.80722	D	1	.	.	.	.	.	.	D	0.91597	0.5292	8	0.52906	T	0.07	-14.6812	15.7515	0.77989	0.0:1.0:0.0:0.0	.	.	.	.	N	1334	ENSP00000332886:D1334N	ENSP00000332886:D1334N	D	-	1	0	FREM3	144837279	1.000000	0.71417	0.993000	0.49108	0.902000	0.53008	6.981000	0.76166	2.229000	0.72834	0.655000	0.94253	GAT	FREM3	-	NULL		0.478	FREM3-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	FREM3	HGNC	protein_coding	OTTHUMT00000365391.1	C	XM_094074		144617829	-1	no_errors	ENST00000329798	ensembl	human	putative	70_37	missense	SNP	1.000	T
FRY	10129	genome.wustl.edu	37	13	32785169	32785169	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr13:32785169C>T	ENST00000380250.3	+	34	5085	c.4589C>T	c.(4588-4590)tCa>tTa	p.S1530L		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1530						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		GCAGCAGCCTCAGGTAAGAAG	0.532																																																	0													41.0	43.0	42.0					13																	32785169		1915	4140	6055	SO:0001583	missense	10129			AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.4589C>T	13.37:g.32785169C>T	ENSP00000369600:p.Ser1530Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9Y3N6	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.S1530L	ENST00000380250.3	37	c.4589	CCDS41875.1	13	.	.	.	.	.	.	.	.	.	.	C	27.3	4.817955	0.90790	.	.	ENSG00000073910	ENST00000380250;ENST00000380257	T	0.26373	1.74	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.50616	0.1626	M	0.72118	2.19	0.80722	D	1	D	0.53151	0.958	P	0.62560	0.904	T	0.45542	-0.9254	10	0.51188	T	0.08	.	19.5366	0.95255	0.0:1.0:0.0:0.0	.	1530	Q5TBA9	FRY_HUMAN	L	1530;367	ENSP00000369600:S1530L	ENSP00000369600:S1530L	S	+	2	0	FRY	31683169	1.000000	0.71417	0.807000	0.32361	0.341000	0.28922	7.762000	0.85270	2.622000	0.88805	0.591000	0.81541	TCA	FRY	-	NULL		0.532	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRY	HGNC	protein_coding	OTTHUMT00000044405.1	C	NM_023037		32785169	+1	no_errors	ENST00000380250	ensembl	human	known	70_37	missense	SNP	0.993	T
GABRD	2563	genome.wustl.edu	37	1	1961582	1961582	+	Missense_Mutation	SNP	C	C	A			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr1:1961582C>A	ENST00000378585.4	+	9	1303	c.1220C>A	c.(1219-1221)gCc>gAc	p.A407D		NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN	gamma-aminobutyric acid (GABA) A receptor, delta	407					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GAGGGGGCAGCCCGCTCAGGA	0.697																																																	0													38.0	39.0	38.0					1																	1961582		2201	4290	6491	SO:0001583	missense	2563			BC033801	CCDS36.1	1p36.3	2012-06-22			ENSG00000187730	ENSG00000187730		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4084	protein-coding gene	gene with protein product	"""GABA(A) receptor, delta"""	137163				2176788, 10965146	Standard	NM_000815		Approved		uc001aip.2	O14764	OTTHUMG00000041064	ENST00000378585.4:c.1220C>A	1.37:g.1961582C>A	ENSP00000367848:p.Ala407Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8N4N9	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAd_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.A407D	ENST00000378585.4	37	c.1220	CCDS36.1	1	.	.	.	.	.	.	.	.	.	.	C	0.017	-1.509019	0.00984	.	.	ENSG00000187730	ENST00000378585	D	0.84146	-1.81	3.24	2.3	0.28687	Neurotransmitter-gated ion-channel transmembrane domain (1);	3.754360	0.00721	N	0.000884	T	0.67477	0.2897	N	0.03608	-0.345	0.09310	N	1	B	0.23185	0.081	B	0.22152	0.038	T	0.62229	-0.6898	10	0.12103	T	0.63	-17.184	4.2747	0.10802	0.0:0.616:0.2431:0.1408	.	407	O14764	GBRD_HUMAN	D	407	ENSP00000367848:A407D	ENSP00000367848:A407D	A	+	2	0	GABRD	1951442	0.002000	0.14202	0.019000	0.16419	0.052000	0.14988	0.150000	0.16263	0.686000	0.31488	0.491000	0.48974	GCC	GABRD	-	superfamily_Neurotrans-gated_channel_TM		0.697	GABRD-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	GABRD	HGNC	protein_coding	OTTHUMT00000098493.1	C	NM_000815		1961582	+1	no_errors	ENST00000378585	ensembl	human	known	70_37	missense	SNP	0.001	A
GCC2	9648	genome.wustl.edu	37	2	109067510	109067510	+	Silent	SNP	C	C	T			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr2:109067510C>T	ENST00000309863.6	+	3	804	c.90C>T	c.(88-90)ctC>ctT	p.L30L		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	30					Golgi ribbon formation (GO:0090161)|late endosome to Golgi transport (GO:0034499)|microtubule anchoring (GO:0034453)|microtubule organizing center organization (GO:0031023)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|recycling endosome to Golgi transport (GO:0071955)|regulation of protein exit from endoplasmic reticulum (GO:0070861)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						AAGAAGACCTCATCAAGTTTG	0.358																																																	0													118.0	110.0	112.0					2																	109067510		2203	4300	6503	SO:0001819	synonymous_variant	9648			BC020645	CCDS33268.1	2q12.3	2008-02-05	2004-03-05		ENSG00000135968	ENSG00000135968			23218	protein-coding gene	gene with protein product		612711	"""GRIP and coiled-coil domain-containing 2"""			12446665	Standard	NM_181453		Approved	GCC185, KIAA0336	uc002tec.3	Q8IWJ2	OTTHUMG00000153214	ENST00000309863.6:c.90C>T	2.37:g.109067510C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Silent	SNP	pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,smart_GRIP,pfscan_GRIP	p.L30	ENST00000309863.6	37	c.90	CCDS33268.1	2																																																																																			GCC2	-	NULL		0.358	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	GCC2	HGNC	protein_coding	OTTHUMT00000358516.3	C	NM_014635		109067510	+1	no_errors	ENST00000309863	ensembl	human	known	70_37	silent	SNP	1.000	T
GALNT13	114805	genome.wustl.edu	37	2	155102390	155102390	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr2:155102390C>T	ENST00000392825.3	+	7	1319	c.752C>T	c.(751-753)tCa>tTa	p.S251L	GALNT13_ENST00000409237.1_Missense_Mutation_p.S251L	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	polypeptide N-acetylgalactosaminyltransferase 13	251					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						ATGGCTGGGTCAGACATGACT	0.403																																																	0													112.0	110.0	111.0					2																	155102390		2203	4300	6503	SO:0001583	missense	114805			AB067505	CCDS2199.1	2q24.1	2014-03-13	2014-03-13		ENSG00000144278	ENSG00000144278	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	23242	protein-coding gene	gene with protein product	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13"", ""polypeptide GalNAc transferase 13"""	608369	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)"""			11572484, 12407114	Standard	XM_005246267		Approved	KIAA1918, GalNAc-T13	uc002tyr.4	Q8IUC8	OTTHUMG00000131917	ENST00000392825.3:c.752C>T	2.37:g.155102390C>T	ENSP00000376570:p.Ser251Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q08ER7|Q68VI8|Q6ZWG1|Q96PX0|Q9UIE5	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.S251L	ENST00000392825.3	37	c.752	CCDS2199.1	2	.	.	.	.	.	.	.	.	.	.	C	34	5.343491	0.95783	.	.	ENSG00000144278	ENST00000392825;ENST00000409237	T;T	0.60171	0.21;0.21	5.28	5.28	0.74379	Glycosyl transferase, family 2 (1);	0.000000	0.85682	D	0.000000	T	0.75781	0.3896	M	0.87269	2.87	0.80722	D	1	P;D;P;D	0.63046	0.59;0.984;0.899;0.992	B;P;P;P	0.55785	0.261;0.704;0.771;0.784	T	0.80801	-0.1220	10	0.72032	D	0.01	.	18.32	0.90234	0.0:1.0:0.0:0.0	.	251;251;251;251	Q8IUC8-2;B3KY85;Q08ER7;Q8IUC8	.;.;.;GLT13_HUMAN	L	251	ENSP00000376570:S251L;ENSP00000387239:S251L	ENSP00000376570:S251L	S	+	2	0	GALNT13	154810636	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.773000	0.85462	2.655000	0.90218	0.580000	0.79431	TCA	GALNT13	-	pfam_Glyco_trans_2		0.403	GALNT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT13	HGNC	protein_coding	OTTHUMT00000254870.2	C	NM_052917		155102390	+1	no_errors	ENST00000409237	ensembl	human	known	70_37	missense	SNP	1.000	T
GDPD5	81544	genome.wustl.edu	37	11	75152240	75152240	+	Missense_Mutation	SNP	G	G	T			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr11:75152240G>T	ENST00000336898.3	-	14	2278	c.1441C>A	c.(1441-1443)Ctg>Atg	p.L481M	GDPD5_ENST00000443276.2_3'UTR|GDPD5_ENST00000533805.1_Missense_Mutation_p.L236M|GDPD5_ENST00000526177.1_Missense_Mutation_p.L343M|GDPD5_ENST00000533784.1_Missense_Mutation_p.L362M|GDPD5_ENST00000529721.1_Missense_Mutation_p.L481M|GDPD5_ENST00000376282.3_Missense_Mutation_p.L362M	NM_030792.6	NP_110419.5	Q8WTR4	GDPD5_HUMAN	glycerophosphodiester phosphodiesterase domain containing 5	481	GP-PDE.				cerebral cortex neuron differentiation (GO:0021895)|glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)|negative regulation of Notch signaling pathway (GO:0045746)|neuron projection development (GO:0031175)|positive regulation of neuron differentiation (GO:0045666)|regulation of timing of cell differentiation (GO:0048505)|spinal cord motor neuron differentiation (GO:0021522)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						ACCTGGGACAGGGCGTGGGAG	0.642																																																	0													64.0	47.0	53.0					11																	75152240		2200	4293	6493	SO:0001583	missense	81544			AF318377	CCDS8238.1	11q13.4-q13.5	2011-01-25				ENSG00000158555			28804	protein-coding gene	gene with protein product		609632				18667693, 17275818	Standard	NM_030792		Approved	PP1665, GDE2	uc001owp.4	Q8WTR4		ENST00000336898.3:c.1441C>A	11.37:g.75152240G>T	ENSP00000337972:p.Leu481Met	Somatic		WXS	Illumina HiSeq	Phase_IV	Q49AQ5|Q6UX76|Q7Z4S0|Q8N781|Q8NCB7|Q8TB77	Missense_Mutation	SNP	pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl	p.L481M	ENST00000336898.3	37	c.1441	CCDS8238.1	11	.	.	.	.	.	.	.	.	.	.	g	19.57	3.852591	0.71719	.	.	ENSG00000158555	ENST00000526177;ENST00000533784;ENST00000529721;ENST00000336898;ENST00000533805;ENST00000376282;ENST00000534322	T;T;T;T;T;T;T	0.59772	0.24;0.24;0.24;0.24;0.24;0.24;0.24	4.84	2.85	0.33270	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.153558	0.44483	D	0.000456	T	0.73999	0.3659	M	0.83483	2.645	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.996	T	0.74636	-0.3599	10	0.72032	D	0.01	-12.6565	8.953	0.35801	0.1933:0.0:0.8067:0.0	.	362;481	Q8WTR4-2;Q8WTR4	.;GDPD5_HUMAN	M	343;362;481;481;236;362;65	ENSP00000434050:L343M;ENSP00000437049:L362M;ENSP00000433214:L481M;ENSP00000337972:L481M;ENSP00000435196:L236M;ENSP00000365459:L362M;ENSP00000435728:L65M	ENSP00000337972:L481M	L	-	1	2	GDPD5	74829888	1.000000	0.71417	0.818000	0.32626	0.859000	0.49053	5.852000	0.69488	0.684000	0.31448	0.645000	0.84053	CTG	GDPD5	-	superfamily_PLC-like_Pdiesterase_TIM-brl		0.642	GDPD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDPD5	HGNC	protein_coding	OTTHUMT00000384409.1	G	NM_030792		75152240	-1	no_errors	ENST00000336898	ensembl	human	known	70_37	missense	SNP	0.991	T
GLRA2	2742	genome.wustl.edu	37	X	14627259	14627259	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chrX:14627259G>A	ENST00000218075.4	+	7	1392	c.862G>A	c.(862-864)Gca>Aca	p.A288T	GLRA2_ENST00000443437.2_Missense_Mutation_p.A199T|GLRA2_ENST00000355020.4_Missense_Mutation_p.A288T	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2	288					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)|synapse assembly (GO:0007416)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)	p.A288T(1)|p.A288S(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)|Lindane(DB00431)	TGCCAGGGTCGCACTGGGCAT	0.468																																																	2	Substitution - Missense(2)	ovary(1)|lung(1)											84.0	83.0	84.0					X																	14627259		2203	4300	6503	SO:0001583	missense	2742				CCDS14160.1, CCDS48085.1, CCDS55371.1	Xp22.2	2012-02-07			ENSG00000101958	ENSG00000101958		"""Ligand-gated ion channels / Glycine receptors"""	4327	protein-coding gene	gene with protein product		305990		GLR			Standard	NM_002063		Approved		uc010nep.3	P23416	OTTHUMG00000021166	ENST00000218075.4:c.862G>A	X.37:g.14627259G>A	ENSP00000218075:p.Ala288Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K0J6|B2R6I8|B7Z4F5|J3KQ59|Q53YX7|Q6ICQ0|Q99862	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_Glycine_rcpt_A,prints_Glycine_rcpt_A2,prints_Neur_channel,tigrfam_Neur_channel	p.A288T	ENST00000218075.4	37	c.862	CCDS14160.1	X	.	.	.	.	.	.	.	.	.	.	G	25.9	4.682558	0.88542	.	.	ENSG00000101958	ENST00000443437;ENST00000218075;ENST00000355020	D;D;D	0.84516	-1.86;-1.86;-1.86	5.4	5.4	0.78164	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.84556	0.5498	L	0.33792	1.035	0.80722	D	1	P;D;P	0.56035	0.839;0.974;0.916	B;P;P	0.49799	0.327;0.55;0.622	D	0.86883	0.2043	10	0.87932	D	0	.	18.3146	0.90215	0.0:0.0:1.0:0.0	.	272;288;288	B7Z4E9;P23416;P23416-2	.;GLRA2_HUMAN;.	T	199;288;288	ENSP00000387756:A199T;ENSP00000218075:A288T;ENSP00000347123:A288T	ENSP00000218075:A288T	A	+	1	0	GLRA2	14537180	1.000000	0.71417	0.993000	0.49108	0.991000	0.79684	9.771000	0.98977	2.264000	0.75181	0.600000	0.82982	GCA	GLRA2	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,tigrfam_Neur_channel		0.468	GLRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GLRA2	HGNC	protein_coding	OTTHUMT00000055829.1	G			14627259	+1	no_errors	ENST00000218075	ensembl	human	known	70_37	missense	SNP	1.000	A
GLRX5	51218	genome.wustl.edu	37	14	96010554	96010554	+	3'UTR	SNP	G	G	C			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr14:96010554G>C	ENST00000331334.4	+	0	1063				GLRX5_ENST00000553672.1_3'UTR	NM_016417.2	NP_057501.2	Q86SX6	GLRX5_HUMAN	glutaredoxin 5						cell redox homeostasis (GO:0045454)|hemopoiesis (GO:0030097)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|protein disulfide oxidoreductase activity (GO:0015035)			large_intestine(1)|lung(1)	2		all_cancers(154;0.135)		Epithelial(152;0.133)|COAD - Colon adenocarcinoma(157;0.21)|all cancers(159;0.212)		TTTCACTATTGAGACCGCAAC	0.468																																																	0																																										SO:0001624	3_prime_UTR_variant	51218			AF113691	CCDS9936.1	14q32.2	2007-08-16	2007-08-16	2005-11-11		ENSG00000182512			20134	protein-coding gene	gene with protein product		609588	"""chromosome 14 open reading frame 87"", ""glutaredoxin 5 homolog (S. cerevisiae)"""	C14orf87			Standard	NM_016417		Approved	PR01238, GRX5	uc001yem.1	Q86SX6		ENST00000331334.4:c.*92G>C	14.37:g.96010554G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q0X088|Q3YML0|Q86WY3|Q8IZ54	RNA	SNP	-	NULL	ENST00000331334.4	37	NULL	CCDS9936.1	14																																																																																			GLRX5	-	-		0.468	GLRX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLRX5	HGNC	protein_coding	OTTHUMT00000414550.1	G			96010554	+1	no_errors	ENST00000553672	ensembl	human	known	70_37	rna	SNP	0.000	C
GPM6B	2824	genome.wustl.edu	37	X	13803802	13803802	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chrX:13803802C>T	ENST00000356942.5	-	2	628	c.187G>A	c.(187-189)Gtg>Atg	p.V63M	GPM6B_ENST00000493677.1_Missense_Mutation_p.V77M|GPM6B_ENST00000316715.4_Missense_Mutation_p.V103M|GPM6B_ENST00000398361.3_De_novo_Start_InFrame|GPM6B_ENST00000454189.2_Missense_Mutation_p.V44M|GPM6B_ENST00000355135.2_Missense_Mutation_p.V103M	NM_005278.3	NP_005269.1	Q13491	GPM6B_HUMAN	glycoprotein M6B	63					cell differentiation (GO:0030154)|extracellular matrix assembly (GO:0085029)|negative regulation of protein localization to cell surface (GO:2000009)|negative regulation of serotonin uptake (GO:0051612)|nervous system development (GO:0007399)|ossification (GO:0001503)|positive regulation of bone mineralization (GO:0030501)|protein transport (GO:0015031)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of focal adhesion assembly (GO:0051893)	integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)|pancreas(1)	6						AGAATCGCCACGGTGCCTGCG	0.582																																																	0													76.0	66.0	70.0					X																	13803802		2203	4300	6503	SO:0001583	missense	2824				CCDS14158.1, CCDS35206.1, CCDS35207.1, CCDS48084.1	Xp22.2	2010-08-03			ENSG00000046653	ENSG00000046653			4461	protein-coding gene	gene with protein product		300051				8661015	Standard	NM_001001995		Approved	M6B, MGC17150, MGC54284	uc004cvw.3	Q13491	OTTHUMG00000021162	ENST00000356942.5:c.187G>A	X.37:g.13803802C>T	ENSP00000349420:p.Val63Met	Somatic		WXS	Illumina HiSeq	Phase_IV	O76077|Q86X43|Q8N956	Missense_Mutation	SNP	pfam_Myelin_PLP,smart_Myelin_PLP,prints_Myelin_PLP	p.V103M	ENST00000356942.5	37	c.307	CCDS14158.1	X	.	.	.	.	.	.	.	.	.	.	C	11.75	1.731639	0.30684	.	.	ENSG00000046653	ENST00000316715;ENST00000454189;ENST00000493677;ENST00000355135;ENST00000356942;ENST00000475307	D;D;D;D;D;D	0.99252	-5.63;-5.63;-5.63;-5.63;-5.63;-5.63	5.65	4.6	0.57074	.	0.211286	0.43260	D	0.000588	D	0.96636	0.8902	N	0.20986	0.625	0.80722	D	1	B;B;B;B;B;B	0.30937	0.068;0.062;0.301;0.158;0.145;0.275	B;B;B;B;B;B	0.26969	0.019;0.053;0.075;0.049;0.046;0.075	D	0.95984	0.8980	10	0.37606	T	0.19	-8.5771	12.1705	0.54155	0.0:0.8503:0.0:0.1497	.	77;44;63;103;55;103	B7Z613;Q13491-2;Q13491;Q13491-3;Q59FD5;Q8N956	.;.;GPM6B_HUMAN;.;.;.	M	103;44;77;103;63;63	ENSP00000316861:V103M;ENSP00000389915:V44M;ENSP00000419904:V77M;ENSP00000347258:V103M;ENSP00000349420:V63M;ENSP00000418594:V63M	ENSP00000316861:V103M	V	-	1	0	GPM6B	13713723	0.713000	0.27926	0.978000	0.43139	0.616000	0.37450	1.373000	0.34272	2.387000	0.81309	0.600000	0.82982	GTG	GPM6B	-	pfam_Myelin_PLP		0.582	GPM6B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GPM6B	HGNC	protein_coding	OTTHUMT00000055822.1	C	NM_001001995		13803802	-1	no_errors	ENST00000316715	ensembl	human	known	70_37	missense	SNP	0.534	T
GPR155	151556	genome.wustl.edu	37	2	175338010	175338010	+	Silent	SNP	G	G	A			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr2:175338010G>A	ENST00000392552.2	-	3	781	c.543C>T	c.(541-543)aaC>aaT	p.N181N	GPR155_ENST00000392551.2_Silent_p.N181N|GPR155_ENST00000295500.4_Silent_p.N181N	NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155	181					cognition (GO:0050890)|intracellular signal transduction (GO:0035556)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						ACCCTATAGGGTTTAACATCA	0.338																																																	0													57.0	66.0	63.0					2																	175338010		2199	4298	6497	SO:0001819	synonymous_variant	151556			AY255528	CCDS2259.1, CCDS74605.1	2q31.1	2012-04-10			ENSG00000163328	ENSG00000163328			22951	protein-coding gene	gene with protein product						12679517	Standard	NM_001033045		Approved	DEPDC3, DEP.7, FLJ31819, PGR22	uc002uiu.4	Q7Z3F1	OTTHUMG00000132336	ENST00000392552.2:c.543C>T	2.37:g.175338010G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RCI2|D3DPE2|Q4G0Y6|Q53SJ3|Q53TA8|Q69YG8|Q86SP9|Q8N261|Q8N639|Q8N8K3|Q96MV6	Silent	SNP	pfam_Auxin_eff,pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom	p.N181	ENST00000392552.2	37	c.543	CCDS2259.1	2																																																																																			GPR155	-	pfam_Auxin_eff		0.338	GPR155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR155	HGNC	protein_coding	OTTHUMT00000255455.1	G	NM_152529		175338010	-1	no_errors	ENST00000295500	ensembl	human	known	70_37	silent	SNP	1.000	A
GTPBP1	9567	genome.wustl.edu	37	22	39101980	39101980	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr22:39101980G>A	ENST00000216044.5	+	1	253	c.20G>A	c.(19-21)cGc>cAc	p.R7H		NM_004286.4	NP_004277.2	O00178	GTPB1_HUMAN	GTP binding protein 1	7					GTP catabolic process (GO:0006184)|immune response (GO:0006955)|positive regulation of mRNA catabolic process (GO:0061014)|signal transduction (GO:0007165)	cytoplasmic exosome (RNase complex) (GO:0000177)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	18	Melanoma(58;0.04)					GAGCGCAGTCGCTCCGCGATG	0.682																																																	0													2.0	2.0	2.0					22																	39101980		1621	3386	5007	SO:0001583	missense	9567			U87964	CCDS13977.2	22q13.1	2008-07-01			ENSG00000100226	ENSG00000100226			4669	protein-coding gene	gene with protein product		602245				9070279	Standard	XM_005261857		Approved	GP-1, HSPC018	uc003awg.3	O00178	OTTHUMG00000151002	ENST00000216044.5:c.20G>A	22.37:g.39101980G>A	ENSP00000216044:p.Arg7His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6IC67	Missense_Mutation	SNP	pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_elong_init/rib_B-barrel	p.R7H	ENST00000216044.5	37	c.20	CCDS13977.2	22	.	.	.	.	.	.	.	.	.	.	G	20.5	4.005283	0.74932	.	.	ENSG00000100226	ENST00000216044	T	0.34072	1.38	4.76	4.76	0.60689	.	0.196377	0.41605	D	0.000857	T	0.39410	0.1077	N	0.14661	0.345	0.47905	D	0.999549	D	0.71674	0.998	D	0.69479	0.964	T	0.29852	-0.9998	10	0.48119	T	0.1	.	11.625	0.51139	0.0826:0.0:0.9174:0.0	.	7	O00178	GTPB1_HUMAN	H	7	ENSP00000216044:R7H	ENSP00000216044:R7H	R	+	2	0	GTPBP1	37431926	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.019000	0.49635	2.346000	0.79739	0.563000	0.77884	CGC	GTPBP1	-	NULL		0.682	GTPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTPBP1	HGNC	protein_coding	OTTHUMT00000075532.1	G	NM_004286		39101980	+1	no_errors	ENST00000216044	ensembl	human	known	70_37	missense	SNP	1.000	A
HAUS5	23354	genome.wustl.edu	37	19	36110587	36110587	+	Missense_Mutation	SNP	C	C	T	rs199586387	byFrequency	TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr19:36110587C>T	ENST00000203166.5	+	15	1358	c.1333C>T	c.(1333-1335)Cgc>Tgc	p.R445C	HAUS5_ENST00000379045.2_3'UTR	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5	445					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						GGAGCTGCTGCGCTGTCTGGA	0.662													C|||	2	0.000399361	0.0008	0.0	5008	,	,		13602	0.0		0.0	False		,,,				2504	0.001																0								C	CYS/ARG	1,4223		0,1,2111	23.0	26.0	25.0		1333	3.4	0.8	19		25	4,8478		0,4,4237	yes	missense	HAUS5	NM_015302.1	180	0,5,6348	TT,TC,CC		0.0472,0.0237,0.0394	probably-damaging	445/634	36110587	5,12701	2112	4241	6353	SO:0001583	missense	23354			AB020648	CCDS42550.1	19q13.12	2012-02-22	2009-04-20	2009-04-20	ENSG00000249115	ENSG00000249115		"""HAUS augmin-like complex subunits"""	29130	protein-coding gene	gene with protein product		613432	"""KIAA0841"""	KIAA0841		10048485, 19427217	Standard	NM_015302		Approved	dgt5	uc002oam.1	O94927	OTTHUMG00000048110	ENST00000203166.5:c.1333C>T	19.37:g.36110587C>T	ENSP00000439056:p.Arg445Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RXK1|Q6P2P7|Q7L3D5|Q96CT8	Missense_Mutation	SNP	NULL	p.R445C	ENST00000203166.5	37	c.1333	CCDS42550.1	19	.	.	.	.	.	.	.	.	.	.	C	12.77	2.038737	0.35989	2.37E-4	4.72E-4	ENSG00000249115	ENST00000203166	T	0.33216	1.42	4.5	3.41	0.39046	.	0.524779	0.19442	N	0.114151	T	0.39091	0.1065	M	0.65975	2.015	0.19300	N	0.999978	D	0.64830	0.994	P	0.50896	0.653	T	0.23226	-1.0194	10	0.62326	D	0.03	1.8147	9.5607	0.39366	0.0:0.7659:0.2341:0.0	.	445	O94927	HAUS5_HUMAN	C	445	ENSP00000439056:R445C	ENSP00000439056:R445C	R	+	1	0	HAUS5	40802427	0.000000	0.05858	0.785000	0.31869	0.021000	0.10359	0.808000	0.27154	2.340000	0.79590	0.561000	0.74099	CGC	HAUS5	-	NULL		0.662	HAUS5-005	KNOWN	basic|appris_principal|CCDS	protein_coding	HAUS5	HGNC	protein_coding	OTTHUMT00000459055.2	C			36110587	+1	no_errors	ENST00000203166	ensembl	human	known	70_37	missense	SNP	0.012	T
HESX1	8820	genome.wustl.edu	37	3	57232308	57232308	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr3:57232308G>A	ENST00000295934.3	-	4	511	c.475C>T	c.(475-477)Cgg>Tgg	p.R159W	HESX1_ENST00000473921.1_Missense_Mutation_p.R125W	NM_003865.2	NP_003856.1	Q9UBX0	HESX1_HUMAN	HESX homeobox 1	159					brain development (GO:0007420)|forebrain morphogenesis (GO:0048853)|negative regulation of transcription, DNA-templated (GO:0045892)|nose development (GO:0043584)|otic vesicle formation (GO:0030916)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)			large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(2)	7				KIRC - Kidney renal clear cell carcinoma(284;0.0109)|Kidney(284;0.0126)		TTTGCACGCCGATTTTGAAAC	0.289																																					Esophageal Squamous(84;267 1272 9034 48993 52677)												0													55.0	55.0	55.0					3																	57232308		2203	4299	6502	SO:0001583	missense	8820			AF059734	CCDS2881.1	3p14.3	2014-06-16	2007-02-16		ENSG00000163666	ENSG00000163666		"""Homeoboxes / PRD class"""	4877	protein-coding gene	gene with protein product		601802	"""homeobox, ES cell expressed 1"""			9373136, 9620767, 7876132	Standard	NM_003865		Approved	RPX, ANF	uc003din.4	Q9UBX0	OTTHUMG00000158597	ENST00000295934.3:c.475C>T	3.37:g.57232308G>A	ENSP00000295934:p.Arg159Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	Q52LC5|Q99667	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.R159W	ENST00000295934.3	37	c.475	CCDS2881.1	3	.	.	.	.	.	.	.	.	.	.	G	17.58	3.425920	0.62733	.	.	ENSG00000163666	ENST00000295934;ENST00000473921	D;D	0.97620	-4.46;-3.77	5.25	4.36	0.52297	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.64402	D	0.000001	D	0.99396	0.9787	H	0.99986	5.255	0.53005	D	0.999966	D	0.89917	1.0	D	0.97110	1.0	D	0.97523	1.0074	10	0.87932	D	0	-10.0472	15.3792	0.74641	0.0:0.0:0.8593:0.1407	.	159	Q9UBX0	HESX1_HUMAN	W	159;125	ENSP00000295934:R159W;ENSP00000418918:R125W	ENSP00000295934:R159W	R	-	1	2	HESX1	57207348	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.066000	0.50002	1.315000	0.45114	0.484000	0.47621	CGG	HESX1	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain		0.289	HESX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HESX1	HGNC	protein_coding	OTTHUMT00000351430.2	G			57232308	-1	no_errors	ENST00000295934	ensembl	human	known	70_37	missense	SNP	1.000	A
HEYL	26508	genome.wustl.edu	37	1	40092744	40092744	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr1:40092744C>T	ENST00000372852.3	-	5	741	c.422G>A	c.(421-423)cGt>cAt	p.R141H	HEYL_ENST00000535435.1_Missense_Mutation_p.R113H	NM_014571.3	NP_055386	Q9NQ87	HEYL_HUMAN	hes-related family bHLH transcription factor with YRPW motif-like	141	Orange. {ECO:0000255|PROSITE- ProRule:PRU00380}.				atrioventricular valve morphogenesis (GO:0003181)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac ventricle morphogenesis (GO:0003208)|cellular response to BMP stimulus (GO:0071773)|endocardial cushion morphogenesis (GO:0003203)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|glomerulus development (GO:0032835)|mesenchymal cell development (GO:0014031)|negative regulation of androgen receptor activity (GO:2000824)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal tubule development (GO:0072014)|pulmonary valve morphogenesis (GO:0003184)|skeletal muscle cell differentiation (GO:0035914)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AF-1 domain binding (GO:0050683)|microsatellite binding (GO:0035939)|protein binding transcription factor activity (GO:0000988)|protein heterodimerization activity (GO:0046982)|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 core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.1e-18)|Epithelial(16;2.77e-17)|all cancers(16;5.64e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GGGGTCTGCACGGCTGCTGGG	0.642																																																	0													46.0	45.0	46.0					1																	40092744		2203	4300	6503	SO:0001583	missense	26508			BC006087	CCDS439.1	1p34.3	2013-10-17	2013-10-17		ENSG00000163909	ENSG00000163909		"""Basic helix-loop-helix proteins"""	4882	protein-coding gene	gene with protein product	"""hairy/enhancer-of-split related with YRPW motif 3"""	609034	"""hairy/enhancer-of-split related with YRPW motif-like"""			10415358, 10860664	Standard	NM_014571		Approved	bHLHb33, HEY3, HESR3	uc001cdp.3	Q9NQ87	OTTHUMG00000000458	ENST00000372852.3:c.422G>A	1.37:g.40092744C>T	ENSP00000361943:p.Arg141His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5TG99	Missense_Mutation	SNP	pfam_HLH_dom,pfam_Orange,superfamily_HLH_dom,smart_HLH_dom,smart_Orange_subgr,pfscan_Orange,pfscan_HLH_dom	p.R141H	ENST00000372852.3	37	c.422	CCDS439.1	1	.	.	.	.	.	.	.	.	.	.	C	7.924	0.739177	0.15642	.	.	ENSG00000163909	ENST00000372852;ENST00000535435	T;T	0.59906	0.24;0.23	3.63	1.74	0.24563	Orange subgroup (1);Orange (2);	0.355383	0.32687	N	0.005773	T	0.24198	0.0586	N	0.02011	-0.69	0.21782	N	0.999541	B	0.21452	0.056	B	0.15052	0.012	T	0.13683	-1.0500	10	0.30854	T	0.27	-28.5792	5.4823	0.16731	0.0:0.7383:0.0:0.2617	.	141	Q9NQ87	HEYL_HUMAN	H	141;113	ENSP00000361943:R141H;ENSP00000439071:R113H	ENSP00000361943:R141H	R	-	2	0	HEYL	39865331	0.231000	0.23751	0.987000	0.45799	0.710000	0.40934	1.016000	0.29976	0.509000	0.28195	-0.369000	0.07265	CGT	HEYL	-	pfam_Orange,smart_Orange_subgr,pfscan_Orange		0.642	HEYL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEYL	HGNC	protein_coding	OTTHUMT00000001179.2	C	NM_014571		40092744	-1	no_errors	ENST00000372852	ensembl	human	known	70_37	missense	SNP	0.334	T
HIVEP1	3096	genome.wustl.edu	37	6	12120788	12120788	+	Missense_Mutation	SNP	G	G	C			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr6:12120788G>C	ENST00000379388.2	+	4	1092	c.760G>C	c.(760-762)Gaa>Caa	p.E254Q		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	254					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				ATTGGTTGCTGAATCACAGTC	0.428																																																	0													156.0	139.0	145.0					6																	12120788		1916	4127	6043	SO:0001583	missense	3096			J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"""Zinc fingers, C2H2-type"""	4920	protein-coding gene	gene with protein product		194540	"""human immunodeficiency virus type I enhancer-binding protein 1"", ""zinc finger protein 40"""	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.760G>C	6.37:g.12120788G>C	ENSP00000368698:p.Glu254Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E254Q	ENST00000379388.2	37	c.760	CCDS43426.1	6	.	.	.	.	.	.	.	.	.	.	G	6.427	0.446931	0.12223	.	.	ENSG00000095951	ENST00000379388	T	0.09445	2.98	5.69	2.91	0.33838	.	0.000000	0.37053	N	0.002262	T	0.02610	0.0079	L	0.36672	1.1	0.09310	N	1	B	0.14805	0.011	B	0.08055	0.003	T	0.44452	-0.9327	9	.	.	.	-2.9959	10.5901	0.45304	0.0683:0.3977:0.534:0.0	.	254	P15822	ZEP1_HUMAN	Q	254	ENSP00000368698:E254Q	.	E	+	1	0	HIVEP1	12228774	0.856000	0.29760	0.000000	0.03702	0.469000	0.32828	3.484000	0.53201	0.324000	0.23333	0.655000	0.94253	GAA	HIVEP1	-	NULL		0.428	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIVEP1	HGNC	protein_coding	OTTHUMT00000039870.2	G	NM_002114		12120788	+1	no_errors	ENST00000379388	ensembl	human	known	70_37	missense	SNP	0.000	C
HN1	51155	genome.wustl.edu	37	17	73144629	73144629	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr17:73144629G>A	ENST00000409753.3	-	2	479	c.194C>T	c.(193-195)tCa>tTa	p.S65L	Y_RNA_ENST00000516233.1_RNA|HN1_ENST00000482348.1_Missense_Mutation_p.S19L|HN1_ENST00000392566.2_Missense_Mutation_p.S19L|HN1_ENST00000405458.3_Missense_Mutation_p.S19L|HN1_ENST00000470924.1_Missense_Mutation_p.S19L|HN1_ENST00000476258.1_Missense_Mutation_p.S19L|RP11-649A18.4_ENST00000579554.1_RNA|HN1_ENST00000465454.1_5'UTR|HN1_ENST00000581874.1_Missense_Mutation_p.S65L|HN1_ENST00000481647.1_Missense_Mutation_p.S19L|HN1_ENST00000356033.4_Missense_Mutation_p.S65L	NM_016185.2	NP_057269.1	Q9UK76	HN1_HUMAN	hematological and neurological expressed 1	65					developmental process (GO:0032502)	nucleus (GO:0005634)			HN1/USH1G(2)	breast(1)	1	all_lung(278;0.14)|Lung NSC(278;0.168)					AGTACCTGCTGACTTGGCCCA	0.483																																																	0													105.0	90.0	95.0					17																	73144629		2203	4300	6503	SO:0001583	missense	51155			AF086910	CCDS32729.1, CCDS45771.1, CCDS45772.1	17q25.1	2013-09-20			ENSG00000189159	ENSG00000189159			14569	protein-coding gene	gene with protein product	"""androgen-regulated protein 2"""					15094197	Standard	NM_001002032		Approved	ARM2, HN1A	uc002jnb.1	Q9UK76	OTTHUMG00000154521	ENST00000409753.3:c.194C>T	17.37:g.73144629G>A	ENSP00000387059:p.Ser65Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R6K3|Q53FG7|Q7Z2D2|Q7Z2F0	Missense_Mutation	SNP	NULL	p.S65L	ENST00000409753.3	37	c.194	CCDS45771.1	17	.	.	.	.	.	.	.	.	.	.	G	11.40	1.626189	0.28978	.	.	ENSG00000189159	ENST00000405458;ENST00000409753;ENST00000356033;ENST00000409135;ENST00000392566	.	.	.	4.86	3.89	0.44902	.	0.248614	0.32687	N	0.005774	T	0.35128	0.0921	L	0.47716	1.5	0.33046	D	0.532077	B;B;P	0.38078	0.122;0.386;0.617	B;B;B	0.30855	0.036;0.08;0.121	T	0.54655	-0.8261	9	0.87932	D	0	-41.134	8.0071	0.30332	0.0811:0.0:0.7611:0.1578	.	65;65;65	B8ZZT7;Q9UK76-2;Q9UK76	.;.;HN1_HUMAN	L	19;65;65;65;19	.	ENSP00000348316:S65L	S	-	2	0	HN1	70656224	0.997000	0.39634	0.769000	0.31535	0.225000	0.24961	3.294000	0.51787	1.287000	0.44583	-0.251000	0.11542	TCA	HN1	-	NULL		0.483	HN1-001	KNOWN	basic|CCDS	protein_coding	HN1	HGNC	protein_coding	OTTHUMT00000335692.1	G	NM_001002032		73144629	-1	no_errors	ENST00000356033	ensembl	human	known	70_37	missense	SNP	0.750	A
ICA1	3382	genome.wustl.edu	37	7	8153554	8153554	+	Silent	SNP	C	C	T			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr7:8153554C>T	ENST00000402384.3	-	14	1717	c.1451G>A	c.(1450-1452)tGa>tAa	p.*484*	AC006042.6_ENST00000449931.1_RNA|ICA1_ENST00000406470.2_Silent_p.*484*|ICA1_ENST00000422063.2_Silent_p.*513*|ICA1_ENST00000396675.3_Silent_p.*484*|ICA1_ENST00000265577.7_Silent_p.*483*|ICA1_ENST00000401396.1_Silent_p.*472*			Q05084	ICA69_HUMAN	islet cell autoantigen 1, 69kDa	0					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|secretory granule membrane (GO:0030667)|synaptic vesicle membrane (GO:0030672)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		GGTACAGATTCATGCATTGAG	0.502																																																	0													149.0	139.0	142.0					7																	8153554		2203	4300	6503	SO:0001819	synonymous_variant	3382				CCDS34602.1, CCDS64595.1	7p22	2006-12-13	2002-08-29		ENSG00000003147	ENSG00000003147			5343	protein-coding gene	gene with protein product		147625	"""islet cell autoantigen 1 (69kD)"""			7918678, 8777998	Standard	NM_001276478		Approved	ICAp69	uc003srm.3	Q05084	OTTHUMG00000152008	ENST00000402384.3:c.1451G>A	7.37:g.8153554C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K7U1|B3FTQ2|P78506|Q13824|Q96HG3	Silent	SNP	pfam_Arfaptin_homology_dom,pfam_Islet_autoAg_Ica1_C,pfscan_Arfaptin_homology_dom	p.*513	ENST00000402384.3	37	c.1538	CCDS34602.1	7																																																																																			ICA1	-	NULL		0.502	ICA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ICA1	HGNC	protein_coding	OTTHUMT00000324793.1	C	NM_004968		8153554	-1	no_errors	ENST00000422063	ensembl	human	known	70_37	silent	SNP	1.000	T
IGF2BP2	10644	genome.wustl.edu	37	3	185393021	185393022	+	Intron	DEL	GC	GC	-	rs140494044	byFrequency	TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	GC	GC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr3:185393021_185393022delGC	ENST00000382199.2	-	9	1167				IGF2BP2_ENST00000421047.2_Intron|IGF2BP2_ENST00000494906.1_Intron|IGF2BP2_ENST00000457616.2_Intron|IGF2BP2_ENST00000346192.3_Intron	NM_006548.4	NP_006539.3	Q9Y6M1	IF2B2_HUMAN	insulin-like growth factor 2 mRNA binding protein 2						anatomical structure morphogenesis (GO:0009653)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|translation regulator activity (GO:0045182)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	20	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			TTCCTCATTAGCTGAATGGCAA	0.386																																																	0																																										SO:0001627	intron_variant	10644			BC021290	CCDS3273.2, CCDS33903.1	3q27.2	2013-02-12			ENSG00000073792	ENSG00000073792		"""RNA binding motif (RRM) containing"""	28867	protein-coding gene	gene with protein product	"""IGF II mRNA binding protein 2"""	608289				10190901, 9891060	Standard	NM_001007225		Approved	IMP-2	uc003fpo.3	Q9Y6M1	OTTHUMG00000074025	ENST00000382199.2:c.1071+61GC>-	3.37:g.185393021_185393022delGC		Somatic		WXS	Illumina HiSeq	Phase_IV	A0A4Z0|B3FTN2|B3FTN3|B3FTN4	RNA	DEL	-	NULL	ENST00000382199.2	37	NULL	CCDS3273.2	3																																																																																			IGF2BP2	-	-		0.386	IGF2BP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	IGF2BP2	HGNC	protein_coding	OTTHUMT00000157087.2	GC	NM_006548		185393022	-1	no_errors	ENST00000496495	ensembl	human	known	70_37	rna	DEL	0.001:0.057	-
IL22RA1	58985	genome.wustl.edu	37	1	24454745	24454745	+	Missense_Mutation	SNP	A	A	G			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr1:24454745A>G	ENST00000270800.1	-	5	594	c.556T>C	c.(556-558)Tat>Cat	p.Y186H		NM_021258.3	NP_067081.2	Q8N6P7	I22R1_HUMAN	interleukin 22 receptor, alpha 1	186	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-negative bacterium (GO:0050829)	integral component of membrane (GO:0016021)	interferon receptor activity (GO:0004904)			breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)		AAGAACTCATATTCTCTCTGC	0.532																																																	0													134.0	120.0	124.0					1																	24454745		2203	4300	6503	SO:0001583	missense	58985			AF286095	CCDS247.1	1p36.11	2009-10-06	2002-12-02	2002-12-06	ENSG00000142677	ENSG00000142677		"""Interleukins and interleukin receptors"""	13700	protein-coding gene	gene with protein product		605457	"""interleukin 22 receptor"""	IL22R		10875937	Standard	NM_021258		Approved	CRF2-9	uc001biq.2	Q8N6P7	OTTHUMG00000003041	ENST00000270800.1:c.556T>C	1.37:g.24454745A>G	ENSP00000270800:p.Tyr186His	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K839|B2R9Y9|Q9HB22	Missense_Mutation	SNP	pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	p.Y186H	ENST00000270800.1	37	c.556	CCDS247.1	1	.	.	.	.	.	.	.	.	.	.	A	12.12	1.843189	0.32606	.	.	ENSG00000142677	ENST00000270800	T	0.42513	0.97	5.06	5.06	0.68205	Interferon alpha/beta receptor, beta chain (1);Immunoglobulin-like fold (1);	0.398005	0.26112	N	0.026263	T	0.49355	0.1552	L	0.32530	0.975	0.34645	D	0.721063	D;D	0.76494	0.999;0.999	D;D	0.80764	0.989;0.994	T	0.56450	-0.7977	10	0.23891	T	0.37	-12.5635	11.2196	0.48846	1.0:0.0:0.0:0.0	.	78;186	B4E2V9;Q8N6P7	.;I22R1_HUMAN	H	186	ENSP00000270800:Y186H	ENSP00000270800:Y186H	Y	-	1	0	IL22RA1	24327332	0.977000	0.34250	0.972000	0.41901	0.493000	0.33554	1.553000	0.36255	1.894000	0.54839	0.460000	0.39030	TAT	IL22RA1	-	pfam_Interferon_alpha/beta_rcpt_bsu		0.532	IL22RA1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	IL22RA1	HGNC	protein_coding	OTTHUMT00000008412.1	A			24454745	-1	no_errors	ENST00000270800	ensembl	human	known	70_37	missense	SNP	0.998	G
KCNJ6	3763	genome.wustl.edu	37	21	39086695	39086695	+	Missense_Mutation	SNP	C	C	A			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr21:39086695C>A	ENST00000609713.1	-	3	1354	c.765G>T	c.(763-765)ttG>ttT	p.L255F	KCNJ6_ENST00000288309.6_Missense_Mutation_p.L255F|KCNJ6-IT1_ENST00000435001.1_RNA	NM_002240.3	NP_002231.1	P48051	KCNJ6_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 6	255					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	CCGTCTGGTTCAACGGGATGA	0.502																																					Pancreas(48;379 1118 2936 19024 28214)												0													112.0	113.0	112.0					21																	39086695		1910	4143	6053	SO:0001583	missense	3763			U24660	CCDS42927.1	21q22.1	2011-07-05			ENSG00000157542	ENSG00000157542		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6267	protein-coding gene	gene with protein product		600877		KCNJ7		7796919, 16382105	Standard	NM_002240		Approved	Kir3.2, GIRK2, KATP2, BIR1, hiGIRK2	uc002ywo.3	P48051	OTTHUMG00000086667	ENST00000609713.1:c.765G>T	21.37:g.39086695C>A	ENSP00000477437:p.Leu255Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q3MJ74|Q53WW6	Missense_Mutation	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_Kir3.2	p.L255F	ENST00000609713.1	37	c.765	CCDS42927.1	21	.	.	.	.	.	.	.	.	.	.	C	14.83	2.653087	0.47362	.	.	ENSG00000157542	ENST00000400482;ENST00000288309	D;D	0.96427	-4.01;-4.01	6.17	3.27	0.37495	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.96420	0.8832	L	0.58428	1.81	0.49915	D	0.999837	D	0.89917	1.0	D	0.97110	1.0	D	0.93620	0.6947	10	0.39692	T	0.17	.	4.3467	0.11136	0.1126:0.3748:0.3772:0.1353	.	255	P48051	IRK6_HUMAN	F	255	ENSP00000383330:L255F;ENSP00000288309:L255F	ENSP00000288309:L255F	L	-	3	2	KCNJ6	38008565	1.000000	0.71417	0.954000	0.39281	0.789000	0.44602	1.329000	0.33770	0.415000	0.25817	0.655000	0.94253	TTG	KCNJ6	-	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir		0.502	KCNJ6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ6	HGNC	protein_coding	OTTHUMT00000194828.2	C	NM_002240		39086695	-1	no_errors	ENST00000288309	ensembl	human	known	70_37	missense	SNP	0.998	A
KIAA0100	9703	genome.wustl.edu	37	17	26962131	26962131	+	Missense_Mutation	SNP	G	G	A	rs551778403		TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr17:26962131G>A	ENST00000528896.2	-	16	2548	c.2474C>T	c.(2473-2475)tCg>tTg	p.S825L	RP11-192H23.7_ENST00000583787.1_RNA|RP11-192H23.7_ENST00000577814.1_RNA|KIAA0100_ENST00000389003.3_Missense_Mutation_p.S682L|KIAA0100_ENST00000544884.1_Missense_Mutation_p.S682L	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	825						extracellular region (GO:0005576)				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					AAACTCCACCGAGACTGAGCC	0.547													G|||	1	0.000199681	0.0	0.0	5008	,	,		20077	0.0		0.0	False		,,,				2504	0.001																0													138.0	155.0	149.0					17																	26962131		2203	4300	6503	SO:0001583	missense	9703			D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"""cancer/testis antigen 101"", ""breast cancer overexpressed gene 1"""	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.2474C>T	17.37:g.26962131G>A	ENSP00000436773:p.Ser825Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Missense_Mutation	SNP	pfam_FMP27_C,pfam_FMP27_N,pfam_FMP27_GFWDK_dom	p.S825L	ENST00000528896.2	37	c.2474	CCDS32595.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.00|15.00	2.702134|2.702134	0.48307|0.48307	.|.	.|.	ENSG00000007202|ENSG00000007202	ENST00000389003|ENST00000005905;ENST00000528896;ENST00000544884	.|T;T	.|0.23348	.|1.91;1.91	5.89|5.89	5.89|5.89	0.94794|0.94794	.|.	.|0.330318	.|0.33127	.|N	.|0.005243	.|T	.|0.25606	.|0.0623	L|L	0.56769|0.56769	1.78|1.78	0.36981|0.36981	D|D	0.894284|0.894284	.|B	.|0.28208	.|0.203	.|B	.|0.14023	.|0.01	.|T	.|0.09250	.|-1.0683	.|10	.|0.30078	.|T	.|0.28	.|.	14.4097|14.4097	0.67106|0.67106	0.0703:0.0:0.9297:0.0|0.0703:0.0:0.9297:0.0	.|.	.|825	.|Q14667	.|K0100_HUMAN	.|L	-1|825;825;682	.|ENSP00000436773:S825L;ENSP00000446443:S682L	.|ENSP00000005905:S825L	.|S	-|-	.|2	.|0	KIAA0100|KIAA0100	23986258|23986258	0.998000|0.998000	0.40836|0.40836	0.996000|0.996000	0.52242|0.52242	0.990000|0.990000	0.78478|0.78478	4.358000|4.358000	0.59442|0.59442	2.792000|2.792000	0.96026|0.96026	0.557000|0.557000	0.71058|0.71058	.|TCG	KIAA0100	-	NULL		0.547	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0100	HGNC	protein_coding	OTTHUMT00000390571.3	G	NM_014680		26962131	-1	no_errors	ENST00000005905	ensembl	human	known	70_37	missense	SNP	0.633	A
NWD2	57495	genome.wustl.edu	37	4	37444966	37444966	+	Missense_Mutation	SNP	A	A	T			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr4:37444966A>T	ENST00000309447.5	+	7	2204	c.1356A>T	c.(1354-1356)agA>agT	p.R452S		NM_001144990.1	NP_001138462.1	Q9ULI1	NWD2_HUMAN		452	NACHT.									breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(2)|skin(2)	16						TCATCGTGAGATTTCTAGGAA	0.443																																																	0													148.0	123.0	130.0					4																	37444966		692	1591	2283	SO:0001583	missense	57495																														ENST00000309447.5:c.1356A>T	4.37:g.37444966A>T	ENSP00000309501:p.Arg452Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MRU1	Missense_Mutation	SNP	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.R452S	ENST00000309447.5	37	c.1356	CCDS47040.1	4	.	.	.	.	.	.	.	.	.	.	A	20.8	4.049789	0.75846	.	.	ENSG00000174145	ENST00000309447	T	0.78364	-1.17	6.06	2.24	0.28232	.	.	.	.	.	D	0.85936	0.5813	M	0.81341	2.54	0.53005	D	0.999966	D	0.62365	0.991	D	0.78314	0.991	D	0.84558	0.0648	9	0.66056	D	0.02	.	8.8153	0.34991	0.7635:0.0:0.2365:0.0	.	452	Q9ULI1	K1239_HUMAN	S	452	ENSP00000309501:R452S	ENSP00000309501:R452S	R	+	3	2	KIAA1239	37121361	0.968000	0.33430	1.000000	0.80357	0.917000	0.54804	0.243000	0.18106	0.467000	0.27218	0.528000	0.53228	AGA	KIAA1239	-	NULL		0.443	KIAA1239-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1239	HGNC	protein_coding	OTTHUMT00000347551.2	A			37444966	+1	no_errors	ENST00000309447	ensembl	human	known	70_37	missense	SNP	1.000	T
KIAA1429	25962	genome.wustl.edu	37	8	95500998	95500998	+	Nonsense_Mutation	SNP	G	G	T			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr8:95500998G>T	ENST00000297591.5	-	24	5450	c.5375C>A	c.(5374-5376)tCa>tAa	p.S1792*	KIAA1429_ENST00000437199.1_3'UTR	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	1792					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			CTTTCCTCTTGAGCCTCCACT	0.493																																																	0													164.0	143.0	150.0					8																	95500998		2203	4300	6503	SO:0001587	stop_gained	25962			AB037850	CCDS34923.1, CCDS47894.1	8q22.1	2008-11-25			ENSG00000164944	ENSG00000164944			24500	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 121"""					10718198	Standard	NM_015496		Approved	DKFZP434I116, fSAP121	uc003ygo.2	Q69YN4	OTTHUMG00000164426	ENST00000297591.5:c.5375C>A	8.37:g.95500998G>T	ENSP00000297591:p.Ser1792*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Nonsense_Mutation	SNP	superfamily_ARM-type_fold	p.S1792*	ENST00000297591.5	37	c.5375	CCDS34923.1	8	.	.	.	.	.	.	.	.	.	.	G	45	11.924179	0.99618	.	.	ENSG00000164944	ENST00000297591	.	.	.	5.41	5.41	0.78517	.	0.140368	0.50627	D	0.000105	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	-11.4939	19.5665	0.95395	0.0:0.0:1.0:0.0	.	.	.	.	X	1792	.	ENSP00000297591:S1792X	S	-	2	0	KIAA1429	95570174	1.000000	0.71417	0.975000	0.42487	0.985000	0.73830	7.421000	0.80204	2.699000	0.92147	0.655000	0.94253	TCA	KIAA1429	-	NULL		0.493	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1429	HGNC	protein_coding	OTTHUMT00000378720.2	G	NM_015496		95500998	-1	no_errors	ENST00000297591	ensembl	human	known	70_37	nonsense	SNP	1.000	T
KIF27	55582	genome.wustl.edu	37	9	86530456	86530456	+	Silent	SNP	G	G	A			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr9:86530456G>A	ENST00000297814.2	-	2	194	c.51C>T	c.(49-51)tgC>tgT	p.C17C	KIF27_ENST00000413982.1_Silent_p.C17C|KIF27_ENST00000334204.2_Silent_p.C17C	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	17	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						GAGCTTCTTTGCAAAGCAGAG	0.328																																																	0													71.0	73.0	72.0					9																	86530456		2203	4299	6502	SO:0001819	synonymous_variant	55582			AY237536	CCDS6665.1, CCDS65071.1, CCDS65072.1	9q21.32	2008-03-03			ENSG00000165115	ENSG00000165115		"""Kinesins"""	18632	protein-coding gene	gene with protein product		611253					Standard	NM_017576		Approved	DKFZp434D0917	uc004ana.4	Q86VH2	OTTHUMG00000020109	ENST00000297814.2:c.51C>T	9.37:g.86530456G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RTR8|Q5T6W0|Q86VH0|Q86VH1|Q9UF54	Silent	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.C17	ENST00000297814.2	37	c.51	CCDS6665.1	9																																																																																			KIF27	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom		0.328	KIF27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF27	HGNC	protein_coding	OTTHUMT00000052861.1	G	NM_017576		86530456	-1	no_errors	ENST00000297814	ensembl	human	known	70_37	silent	SNP	1.000	A
LAMC1	3915	genome.wustl.edu	37	1	183077436	183077436	+	Missense_Mutation	SNP	G	G	C			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr1:183077436G>C	ENST00000258341.4	+	3	1006	c.749G>C	c.(748-750)aGa>aCa	p.R250T		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	250	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|endoderm development (GO:0007492)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|positive regulation of epithelial cell proliferation (GO:0050679)|protein complex assembly (GO:0006461)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.R250K(2)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						ACTGACATCAGAGTAACTCTT	0.378																																																	2	Substitution - Missense(2)	prostate(2)											141.0	134.0	136.0					1																	183077436		2203	4300	6503	SO:0001583	missense	3915			J03202	CCDS1351.1	1q31	2013-03-01			ENSG00000135862	ENSG00000135862		"""Laminins"""	6492	protein-coding gene	gene with protein product		150290		LAMB2		3234037	Standard	NM_002293		Approved		uc001gpy.4	P11047	OTTHUMG00000035418	ENST00000258341.4:c.749G>C	1.37:g.183077436G>C	ENSP00000258341:p.Arg250Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VYE7	Missense_Mutation	SNP	pfam_Laminin_N,pfam_EGF_laminin,pfam_Laminin_B_type_IV,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N	p.R250T	ENST00000258341.4	37	c.749	CCDS1351.1	1	.	.	.	.	.	.	.	.	.	.	G	19.20	3.780765	0.70222	.	.	ENSG00000135862	ENST00000258341	D	0.84660	-1.88	4.43	4.43	0.53597	Laminin, N-terminal (3);	0.049079	0.85682	D	0.000000	D	0.92760	0.7698	M	0.90082	3.085	0.54753	D	0.999987	D	0.58268	0.982	P	0.59825	0.864	D	0.94604	0.7798	10	0.87932	D	0	.	17.421	0.87515	0.0:0.0:1.0:0.0	.	250	P11047	LAMC1_HUMAN	T	250	ENSP00000258341:R250T	ENSP00000258341:R250T	R	+	2	0	LAMC1	181344059	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.503000	0.60407	2.179000	0.69175	0.467000	0.42956	AGA	LAMC1	-	pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N		0.378	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMC1	HGNC	protein_coding	OTTHUMT00000085954.2	G	NM_002293		183077436	+1	no_errors	ENST00000258341	ensembl	human	known	70_37	missense	SNP	1.000	C
LEO1	123169	genome.wustl.edu	37	15	52252223	52252223	+	Missense_Mutation	SNP	G	G	C			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr15:52252223G>C	ENST00000299601.5	-	5	1093	c.1033C>G	c.(1033-1035)Cag>Gag	p.Q345E	LEO1_ENST00000315141.5_Missense_Mutation_p.Q345E	NM_138792.2	NP_620147.1	Q8WVC0	LEO1_HUMAN	Leo1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	345					endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|mRNA polyadenylation (GO:0006378)|negative regulation of myeloid cell differentiation (GO:0045638)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	14				all cancers(107;0.00264)		TGTTGATCCTGAGGCAATCCA	0.398																																					Esophageal Squamous(40;229 896 18505 32465 43844)|Ovarian(53;886 1123 14462 18432 23189)												0													133.0	125.0	128.0					15																	52252223		2195	4293	6488	SO:0001583	missense	123169			AY302186	CCDS10146.1, CCDS66767.1	15q21.2	2008-02-05			ENSG00000166477	ENSG00000166477			30401	protein-coding gene	gene with protein product		610507				15632063	Standard	NM_001286430		Approved		uc002abo.3	Q8WVC0	OTTHUMG00000131843	ENST00000299601.5:c.1033C>G	15.37:g.52252223G>C	ENSP00000299601:p.Gln345Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q96N99	Missense_Mutation	SNP	pfam_Leo1	p.Q345E	ENST00000299601.5	37	c.1033	CCDS10146.1	15	.	.	.	.	.	.	.	.	.	.	G	1.209	-0.630296	0.03610	.	.	ENSG00000166477	ENST00000299601;ENST00000538386;ENST00000315141	.	.	.	4.81	3.86	0.44501	.	0.179079	0.50627	D	0.000120	T	0.23846	0.0577	N	0.02539	-0.55	0.80722	D	1	B;B	0.06786	0.0;0.001	B;B	0.09377	0.0;0.004	T	0.24548	-1.0157	9	0.02654	T	1	.	14.4404	0.67311	0.0:0.2803:0.7197:0.0	.	345;345	Q8WVC0-2;Q8WVC0	.;LEO1_HUMAN	E	345;323;345	.	ENSP00000299601:Q345E	Q	-	1	0	LEO1	50039515	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.581000	0.53914	1.120000	0.41904	0.644000	0.83932	CAG	LEO1	-	NULL		0.398	LEO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LEO1	HGNC	protein_coding	OTTHUMT00000254791.2	G	NM_138792		52252223	-1	no_errors	ENST00000299601	ensembl	human	known	70_37	missense	SNP	1.000	C
LHX1	3975	genome.wustl.edu	37	17	35298151	35298151	+	Silent	SNP	G	G	A			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr17:35298151G>A	ENST00000254457.5	+	3	2053	c.642G>A	c.(640-642)gcG>gcA	p.A214A	RP11-445F12.2_ENST00000607336.1_RNA	NM_005568.3	NP_005559.2	P48742	LHX1_HUMAN	LIM homeobox 1	214					anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|anterior/posterior axis specification (GO:0009948)|anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell-cell signaling (GO:0007267)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation (GO:0021937)|cerebellum development (GO:0021549)|cervix development (GO:0060067)|comma-shaped body morphogenesis (GO:0072049)|dorsal/ventral pattern formation (GO:0009953)|ectoderm formation (GO:0001705)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|embryonic viscerocranium morphogenesis (GO:0048703)|endoderm formation (GO:0001706)|epithelium development (GO:0060429)|forebrain regionalization (GO:0021871)|gastrulation with mouth forming second (GO:0001702)|head development (GO:0060322)|horizontal cell localization (GO:0035852)|kidney development (GO:0001822)|lateral motor column neuron migration (GO:0097477)|mesonephric duct development (GO:0072177)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerulus development (GO:0072224)|metanephric part of ureteric bud development (GO:0035502)|metanephric renal vesicle morphogenesis (GO:0072283)|metanephric S-shaped body morphogenesis (GO:0072284)|motor neuron axon guidance (GO:0008045)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct elongation (GO:0035849)|nephric duct morphogenesis (GO:0072178)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|oviduct development (GO:0060066)|oviduct epithelium development (GO:0035846)|paramesonephric duct development (GO:0061205)|pattern specification process (GO:0007389)|positive regulation of anterior head development (GO:2000744)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of nephron tubule epithelial cell differentiation (GO:2000768)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|primitive streak formation (GO:0090009)|pronephros development (GO:0048793)|regulation of gene expression (GO:0010468)|renal vesicle morphogenesis (GO:0072077)|retina layer formation (GO:0010842)|S-shaped body morphogenesis (GO:0072050)|somite rostral/caudal axis specification (GO:0032525)|spinal cord association neuron differentiation (GO:0021527)|telencephalon development (GO:0021537)|transcription from RNA polymerase II promoter (GO:0006366)|ureteric bud development (GO:0001657)|urogenital system development (GO:0001655)|uterine epithelium development (GO:0035847)|uterus development (GO:0060065)|vagina development (GO:0060068)|ventral spinal cord development (GO:0021517)	nucleus (GO:0005634)|protein complex (GO:0043234)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Breast(25;0.00607)				AGCAGCTGGCGCAGGAGACCG	0.682																																																	0													17.0	19.0	18.0					17																	35298151		2192	4294	6486	SO:0001819	synonymous_variant	3975			U14755	CCDS11316.1	17q12	2014-04-11			ENSG00000132130	ENSG00000273706		"""Homeoboxes / LIM class"""	6593	protein-coding gene	gene with protein product		601999				9212161	Standard	NM_005568		Approved	LIM-1, LIM1	uc002hnh.2	P48742	OTTHUMG00000188456	ENST00000254457.5:c.642G>A	17.37:g.35298151G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q3MIW0	Silent	SNP	pfam_Znf_LIM,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeodomain,pfscan_Znf_LIM,pfscan_Homeodomain	p.A214	ENST00000254457.5	37	c.642	CCDS11316.1	17																																																																																			LHX1	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain		0.682	LHX1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	LHX1	HGNC	protein_coding	OTTHUMT00000256704.3	G	NM_005568		35298151	+1	no_errors	ENST00000254457	ensembl	human	known	70_37	silent	SNP	1.000	A
LMAN2L	81562	genome.wustl.edu	37	2	97405604	97405604	+	Silent	SNP	C	C	T			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr2:97405604C>T	ENST00000264963.4	-	1	196	c.174G>A	c.(172-174)tcG>tcA	p.S58S	LMAN2L_ENST00000534882.1_5'UTR|LMAN2L_ENST00000377079.4_Silent_p.S58S|LMAN2L_ENST00000426463.2_5'UTR|LMAN2L_ENST00000537039.1_5'UTR	NM_030805.3	NP_110432.1	Q9H0V9	LMA2L_HUMAN	lectin, mannose-binding 2-like	58	L-type lectin-like. {ECO:0000255|PROSITE- ProRule:PRU00658}.				ER to Golgi vesicle-mediated transport (GO:0006888)|protein folding (GO:0006457)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	mannose binding (GO:0005537)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(1)|lung(2)|skin(1)|urinary_tract(1)	7						GGTAGGGCTTCGACAGCGAGT	0.627																																																	0													65.0	62.0	63.0					2																	97405604		2203	4300	6503	SO:0001819	synonymous_variant	81562			AL136617	CCDS2023.1, CCDS46365.1	2q11.1	2008-02-05			ENSG00000114988	ENSG00000114988			19263	protein-coding gene	gene with protein product		609552				12609988	Standard	NM_001142292		Approved	DKFZp564L2423, VIPL	uc002swv.3	Q9H0V9	OTTHUMG00000130453	ENST00000264963.4:c.174G>A	2.37:g.97405604C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DSH3|D3DXH6|Q53GV3|Q53S67|Q63HN6|Q8NBQ6|Q9BQ14	Silent	SNP	pfam_Lectin_leg,superfamily_ConA-like_lec_gl_sf	p.S58	ENST00000264963.4	37	c.174	CCDS2023.1	2																																																																																			LMAN2L	-	pfam_Lectin_leg,superfamily_ConA-like_lec_gl_sf		0.627	LMAN2L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LMAN2L	HGNC	protein_coding	OTTHUMT00000252844.1	C	NM_030805		97405604	-1	no_errors	ENST00000377079	ensembl	human	known	70_37	silent	SNP	1.000	T
LOC285556	285556	genome.wustl.edu	37	4	100573320	100573320	+	Missense_Mutation	SNP	A	A	G			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr4:100573320A>G	ENST00000511828.1	-	1	2485	c.2486T>C	c.(2485-2487)aTg>aCg	p.M829T																								TCCCCTCTCCATTTTGAACTC	0.607																																																	0																																										SO:0001583	missense	285556																														ENST00000511828.1:c.2486T>C	4.37:g.100573320A>G	ENSP00000427555:p.Met829Thr	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.M829T	ENST00000511828.1	37	c.2486		4	.	.	.	.	.	.	.	.	.	.	A	16.54	3.151825	0.57151	.	.	ENSG00000248713	ENST00000511828	T	0.45668	0.89	4.47	4.47	0.54385	.	.	.	.	.	T	0.40619	0.1124	L	0.29908	0.895	.	.	.	.	.	.	.	.	.	T	0.54636	-0.8264	6	0.41790	T	0.15	.	12.8818	0.58022	1.0:0.0:0.0:0.0	.	.	.	.	T	829	ENSP00000427555:M829T	ENSP00000427555:M829T	M	-	2	0	RP11-766F14.2	100792343	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.275000	0.89892	1.874000	0.54306	0.533000	0.62120	ATG	RP11-766F14.2	-	NULL		0.607	RP11-766F14.2-001	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	LOC285556	Clone_based_vega_gene	protein_coding	OTTHUMT00000365456.1	A			100573320	-1	no_errors	ENST00000511828	ensembl	human	putative	70_37	missense	SNP	1.000	G
LPO	4025	genome.wustl.edu	37	17	56327979	56327979	+	Silent	SNP	C	C	T			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr17:56327979C>T	ENST00000262290.4	+	7	1093	c.777C>T	c.(775-777)atC>atT	p.I259I	LPO_ENST00000421678.2_Silent_p.I176I|LPO_ENST00000543544.1_Silent_p.I200I|LPO_ENST00000582328.1_Silent_p.I176I	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	259					defense response to bacterium (GO:0042742)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|hydrogen peroxide catabolic process (GO:0042744)|response to oxidative stress (GO:0006979)|thiocyanate metabolic process (GO:0018969)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|thiocyanate peroxidase activity (GO:0036393)			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						GCTTCCCCATCATGGTACGGC	0.552																																																	0													96.0	69.0	78.0					17																	56327979		2203	4300	6503	SO:0001819	synonymous_variant	4025			M58151	CCDS32689.1, CCDS54149.1	17q23.1	2008-02-05				ENSG00000167419	1.11.1.7		6678	protein-coding gene	gene with protein product		150205				2222811, 8964511	Standard	NM_006151		Approved	SPO	uc002ivt.3	P22079		ENST00000262290.4:c.777C>T	17.37:g.56327979C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A5JUY4|E7EMJ3|Q13408|Q3KNQ2	Silent	SNP	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr	p.I259	ENST00000262290.4	37	c.777	CCDS32689.1	17																																																																																			LPO	-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal		0.552	LPO-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LPO	HGNC	protein_coding	OTTHUMT00000443961.1	C			56327979	+1	no_errors	ENST00000262290	ensembl	human	known	70_37	silent	SNP	1.000	T
LPPR2	64748	genome.wustl.edu	37	19	11475044	11475044	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr19:11475044G>A	ENST00000251473.5	+	10	1397	c.1021G>A	c.(1021-1023)Gtg>Atg	p.V341M	DKFZP761J1410_ENST00000591608.1_Missense_Mutation_p.R321H	NM_001170635.1|NM_022737.2	NP_001164106.1|NP_073574.2																					TGCGCCCGCCGTGGCCACCTG	0.632																																																	0													21.0	23.0	22.0					19																	11475044		2203	4297	6500	SO:0001583	missense	64748																														ENST00000251473.5:c.1021G>A	19.37:g.11475044G>A	ENSP00000251473:p.Val341Met	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase	p.R321H	ENST00000251473.5	37	c.962	CCDS12258.1	19	.	.	.	.	.	.	.	.	.	.	G	17.00	3.275566	0.59649	.	.	ENSG00000105520	ENST00000251473	T	0.34275	1.37	5.35	3.18	0.36537	.	1.610720	0.03814	N	0.266493	T	0.21387	0.0515	N	0.08118	0	0.29198	N	0.875387	P	0.50943	0.94	B	0.35971	0.215	T	0.37619	-0.9698	10	0.39692	T	0.17	-4.3276	12.2991	0.54864	0.0:0.3275:0.6725:0.0	.	341	Q96GM1	LPPR2_HUMAN	M	341	ENSP00000251473:V341M	ENSP00000251473:V341M	V	+	1	0	AC024575.1	11336044	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.062000	0.49971	0.622000	0.30249	0.467000	0.42956	GTG	LPPR2	-	NULL		0.632	DKFZP761J1410-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPPR2	Uniprot_genename	protein_coding	OTTHUMT00000458779.1	G			11475044	+1	no_errors	ENST00000591608	ensembl	human	known	70_37	missense	SNP	1.000	A
MAGEE2	139599	genome.wustl.edu	37	X	75003785	75003785	+	Missense_Mutation	SNP	G	G	C			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chrX:75003785G>C	ENST00000373359.2	-	1	1294	c.1102C>G	c.(1102-1104)Ctg>Gtg	p.L368V		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	368	MAGE 2. {ECO:0000255|PROSITE- ProRule:PRU00127}.									autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						ACCTCAATCAGAGACAACCCA	0.458																																																	0													94.0	77.0	83.0					X																	75003785		2203	4300	6503	SO:0001583	missense	139599			AF490509	CCDS14431.1	Xq13	2008-02-05			ENSG00000186675	ENSG00000186675			24935	protein-coding gene	gene with protein product		300760				11454705	Standard	NM_138703		Approved	HCA3	uc004ecj.2	Q8TD90	OTTHUMG00000021870	ENST00000373359.2:c.1102C>G	X.37:g.75003785G>C	ENSP00000362457:p.Leu368Val	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5JSI5	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.L368V	ENST00000373359.2	37	c.1102	CCDS14431.1	X	.	.	.	.	.	.	.	.	.	.	G	11.12	1.545043	0.27652	.	.	ENSG00000186675	ENST00000373359	T	0.12879	2.64	3.18	1.4	0.22301	.	.	.	.	.	T	0.20047	0.0482	L	0.36672	1.1	0.32999	D	0.525996	D	0.69078	0.997	D	0.76071	0.987	T	0.29027	-1.0025	9	0.37606	T	0.19	.	3.7521	0.08570	0.1493:0.254:0.5967:0.0	.	368	Q8TD90	MAGE2_HUMAN	V	368	ENSP00000362457:L368V	ENSP00000362457:L368V	L	-	1	2	MAGEE2	74920510	1.000000	0.71417	0.991000	0.47740	0.492000	0.33523	0.727000	0.25999	0.241000	0.21283	-0.418000	0.06021	CTG	MAGEE2	-	pfam_MAGE,pfscan_MAGE		0.458	MAGEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEE2	HGNC	protein_coding	OTTHUMT00000057288.1	G	NM_138703		75003785	-1	no_errors	ENST00000373359	ensembl	human	known	70_37	missense	SNP	0.990	C
MAGEC3	139081	genome.wustl.edu	37	X	140983110	140983110	+	Missense_Mutation	SNP	A	A	T			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chrX:140983110A>T	ENST00000298296.1	+	5	965	c.965A>T	c.(964-966)gAg>gTg	p.E322V	MAGEC3_ENST00000544766.1_5'UTR|MAGEC3_ENST00000483584.1_3'UTR|MAGEC3_ENST00000409007.1_5'Flank|MAGEC3_ENST00000443323.2_Intron|MAGEC3_ENST00000448920.1_Missense_Mutation_p.E74V|MAGEC3_ENST00000536088.1_Intron	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	322	MAGE 1. {ECO:0000255|PROSITE- ProRule:PRU00127}.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					GCACTGTGGGAGTCTGAAGGA	0.592																																																	0													125.0	113.0	117.0					X																	140983110		2203	4300	6503	SO:0001583	missense	139081			AF490508	CCDS14676.1, CCDS14677.1	Xq27.2	2009-03-25			ENSG00000165509	ENSG00000165509			23798	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 2"""	300469				10861452	Standard	NM_138702		Approved	HCA2, MAGE-C3, CT7.2	uc011mwp.2	Q8TD91	OTTHUMG00000022570	ENST00000298296.1:c.965A>T	X.37:g.140983110A>T	ENSP00000298296:p.Glu322Val	Somatic		WXS	Illumina HiSeq	Phase_IV	Q3SYA7|Q5JZ43|Q9BZ80	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.E322V	ENST00000298296.1	37	c.965	CCDS14676.1	X	.	.	.	.	.	.	.	.	.	.	N	7.769	0.707101	0.15239	.	.	ENSG00000165509	ENST00000298296;ENST00000448920	T;T	0.42513	3.74;0.97	0.819	0.819	0.18785	.	.	.	.	.	T	0.27524	0.0676	N	0.19112	0.55	0.09310	N	1	D	0.59357	0.985	B	0.43728	0.429	T	0.13308	-1.0514	8	0.66056	D	0.02	.	.	.	.	.	322	Q8TD91	MAGC3_HUMAN	V	322;74	ENSP00000298296:E322V;ENSP00000395092:E74V	ENSP00000298296:E322V	E	+	2	0	MAGEC3	140810776	0.000000	0.05858	0.005000	0.12908	0.008000	0.06430	-0.082000	0.11304	0.571000	0.29365	0.289000	0.19496	GAG	MAGEC3	-	NULL		0.592	MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAGEC3	HGNC	protein_coding	OTTHUMT00000058606.1	A	NM_138702		140983110	+1	no_errors	ENST00000298296	ensembl	human	known	70_37	missense	SNP	0.005	T
MAGEA6	4105	genome.wustl.edu	37	X	151869756	151869756	+	Missense_Mutation	SNP	T	T	C			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chrX:151869756T>C	ENST00000329342.5	+	3	671	c.446T>C	c.(445-447)gTg>gCg	p.V149A		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	149	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					TTCTTTCCTGTGATCTTCAGC	0.527																																																	0													157.0	139.0	145.0					X																	151869756		2202	4299	6501	SO:0001583	missense	4105				CCDS76050.1	Xq28	2009-03-13			ENSG00000197172	ENSG00000197172			6804	protein-coding gene	gene with protein product	"""MAGE-6 antigen"", ""melanoma-associated antigen 6"", ""melanoma antigen family A 6"", ""cancer/testis antigen family 1, member 6"""	300176		MAGE6		8575766	Standard	NM_005363		Approved	CT1.6	uc004ffq.1	P43360	OTTHUMG00000022642	ENST00000329342.5:c.446T>C	X.37:g.151869756T>C	ENSP00000329199:p.Val149Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	A8IF93|Q6NW44	Missense_Mutation	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.V149A	ENST00000329342.5	37	c.446	CCDS14708.1	X	.	.	.	.	.	.	.	.	.	.	t	4.938	0.174312	0.09391	.	.	ENSG00000197172	ENST00000329342;ENST00000412733;ENST00000457643	T;T;T	0.04502	3.61;3.61;3.61	0.605	-1.21	0.09524	.	.	.	.	.	T	0.06645	0.0170	M	0.78637	2.42	0.09310	N	1	P	0.47106	0.89	B	0.43623	0.425	T	0.14144	-1.0483	8	0.36615	T	0.2	.	.	.	.	.	149	P43360	MAGA6_HUMAN	A	149	ENSP00000329199:V149A;ENSP00000403303:V149A;ENSP00000401806:V149A	ENSP00000329199:V149A	V	+	2	0	MAGEA6	151620412	0.000000	0.05858	0.001000	0.08648	0.020000	0.10135	-2.193000	0.01244	-1.924000	0.01064	-1.287000	0.01368	GTG	MAGEA6	-	pfam_MAGE,pfscan_MAGE		0.527	MAGEA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEA6	HGNC	protein_coding	OTTHUMT00000058747.2	T	NM_005363		151869756	+1	no_errors	ENST00000329342	ensembl	human	known	70_37	missense	SNP	0.001	C
MAGI3	260425	genome.wustl.edu	37	1	114216044	114216044	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr1:114216044G>A	ENST00000307546.9	+	19	3221	c.3146G>A	c.(3145-3147)cGt>cAt	p.R1049H	MAGI3_ENST00000369611.4_Missense_Mutation_p.R1049H|MAGI3_ENST00000369617.4_Missense_Mutation_p.R1074H|MAGI3_ENST00000369615.1_Missense_Mutation_p.R1049H	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	1074	PDZ 6. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|nucleotide phosphorylation (GO:0046939)|positive regulation of JUN kinase activity (GO:0043507)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTCATCCTTCGTCTTGCTGAA	0.502																																																	0													121.0	125.0	123.0					1																	114216044		2203	4300	6503	SO:0001583	missense	260425			AF213259	CCDS860.1, CCDS44196.1	1p12-p11.2	2008-02-05			ENSG00000081026	ENSG00000081026			29647	protein-coding gene	gene with protein product		615943				10997877, 10748157	Standard	NM_152900		Approved	MAGI-3	uc001edk.3	Q5TCQ9	OTTHUMG00000011737	ENST00000307546.9:c.3146G>A	1.37:g.114216044G>A	ENSP00000304604:p.Arg1049His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Missense_Mutation	SNP	pfam_PDZ,pfam_WW_Rsp5_WWP,pfam_Guanylate_kin,superfamily_PDZ,superfamily_WW_Rsp5_WWP,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,smart_WW_Rsp5_WWP,pfscan_PDZ,pfscan_WW_Rsp5_WWP,pfscan_Guanylate_kin	p.R1049H	ENST00000307546.9	37	c.3146	CCDS44196.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.546045	0.96488	.	.	ENSG00000081026	ENST00000369617;ENST00000307546;ENST00000369615;ENST00000369611;ENST00000546156	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	5.99	5.99	0.97316	.	0.050257	0.85682	D	0.000000	T	0.49218	0.1544	L	0.58302	1.8	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	0.998;0.993;1.0	T	0.44877	-0.9299	10	0.87932	D	0	-7.2676	20.4753	0.99175	0.0:0.0:1.0:0.0	.	1049;1049;1074	Q5TCQ9-4;Q5TCQ9-3;Q5TCQ9-2	.;.;.	H	1074;1049;1049;1049;89	ENSP00000358630:R1074H;ENSP00000304604:R1049H;ENSP00000358628:R1049H;ENSP00000358624:R1049H	ENSP00000304604:R1049H	R	+	2	0	MAGI3	114017567	1.000000	0.71417	0.862000	0.33874	0.936000	0.57629	9.869000	0.99810	2.844000	0.97970	0.650000	0.86243	CGT	MAGI3	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ		0.502	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	MAGI3	HGNC	protein_coding	OTTHUMT00000032429.1	G	NM_152900		114216044	+1	no_errors	ENST00000369611	ensembl	human	known	70_37	missense	SNP	1.000	A
MCTP2	55784	genome.wustl.edu	37	15	94858857	94858857	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr15:94858857G>A	ENST00000357742.4	+	3	628	c.628G>A	c.(628-630)Gat>Aat	p.D210N	MCTP2_ENST00000331706.4_5'UTR|MCTP2_ENST00000543482.1_Missense_Mutation_p.D210N|MCTP2_ENST00000451018.3_Missense_Mutation_p.D210N	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	210	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			GGTTGTCCGAGATCGCTGTGG	0.527																																																	0													164.0	139.0	147.0					15																	94858857		2197	4298	6495	SO:0001583	missense	55784			AK002037	CCDS32338.1, CCDS53975.1, CCDS53976.1	15q26.2	2006-02-08				ENSG00000140563			25636	protein-coding gene	gene with protein product						15528213	Standard	NM_018349		Approved	FLJ11175, FLJ33303	uc002btj.3	Q6DN12		ENST00000357742.4:c.628G>A	15.37:g.94858857G>A	ENSP00000350377:p.Asp210Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A2RRC2|C6G483|C6G484|Q49AB0|Q8TAX2|Q9NUS2|Q9NUW7	Missense_Mutation	SNP	pfam_C2_Ca-dep,pfam_PRibTrfase_C,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.D210N	ENST00000357742.4	37	c.628	CCDS32338.1	15	.	.	.	.	.	.	.	.	.	.	G	19.91	3.915093	0.73098	.	.	ENSG00000140563	ENST00000543482;ENST00000556363;ENST00000451018;ENST00000357742	T;T;T	0.74526	-0.85;-0.85;-0.85	6.07	6.07	0.98685	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.89636	0.6772	M	0.92317	3.295	0.58432	D	0.999994	P;D;D;P;D	0.76494	0.909;0.999;0.997;0.926;0.991	P;D;D;P;P	0.76575	0.61;0.988;0.95;0.73;0.902	D	0.91235	0.5017	10	0.87932	D	0	.	17.5607	0.87906	0.0:0.0:1.0:0.0	.	210;210;210;210;210	F5H415;Q6DN12-2;Q6DN12;B7Z6H2;G3V2J2	.;.;MCTP2_HUMAN;.;.	N	210	ENSP00000438521:D210N;ENSP00000395109:D210N;ENSP00000350377:D210N	ENSP00000350377:D210N	D	+	1	0	MCTP2	92659861	1.000000	0.71417	0.996000	0.52242	0.308000	0.27856	5.513000	0.67037	2.884000	0.98904	0.655000	0.94253	GAT	MCTP2	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting		0.527	MCTP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MCTP2	HGNC	protein_coding	OTTHUMT00000415060.3	G	NM_018349		94858857	+1	no_errors	ENST00000357742	ensembl	human	known	70_37	missense	SNP	1.000	A
MICALL2	79778	genome.wustl.edu	37	7	1484696	1484696	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr7:1484696C>T	ENST00000297508.7	-	6	1185	c.1010G>A	c.(1009-1011)cGc>cAc	p.R337H	MICALL2_ENST00000405088.4_Missense_Mutation_p.R125H	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN	MICAL-like 2	337	Mediates targeting to the cell plasma membrane. {ECO:0000250}.|Necessary and sufficient for interaction with actinins. {ECO:0000250}.				actin cytoskeleton reorganization (GO:0031532)|actin filament polymerization (GO:0030041)|endocytic recycling (GO:0032456)|neuron projection development (GO:0031175)|substrate adhesion-dependent cell spreading (GO:0034446)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin filament binding (GO:0051015)|filamin binding (GO:0031005)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		CACACGAGGGCGGACTTTCCC	0.716																																																	0													9.0	9.0	9.0					7																	1484696		2029	4088	6117	SO:0001583	missense	79778			BC037988	CCDS5324.1	7p22.3	2006-11-24			ENSG00000164877	ENSG00000164877			29672	protein-coding gene	gene with protein product	"""junctional Rab13-binding protein"""					12110185, 16525024	Standard	NM_182924		Approved	MGC46023, FLJ23471, MICAL-L2, JRAB	uc003skj.4	Q8IY33	OTTHUMG00000119021	ENST00000297508.7:c.1010G>A	7.37:g.1484696C>T	ENSP00000297508:p.Arg337His	Somatic		WXS	Illumina HiSeq	Phase_IV	D3YTD2|Q7RTP4|Q7Z655|Q8TEQ4|Q9H5F9	Missense_Mutation	SNP	pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM	p.R337H	ENST00000297508.7	37	c.1010	CCDS5324.1	7	.	.	.	.	.	.	.	.	.	.	C	10.11	1.259200	0.23051	.	.	ENSG00000164877	ENST00000405088;ENST00000297508	T;T	0.71817	2.53;-0.6	3.53	-5.87	0.02297	.	.	.	.	.	T	0.40067	0.1102	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.14727	-1.0462	9	0.44086	T	0.13	.	1.2551	0.01990	0.1357:0.1979:0.2685:0.3979	.	337	Q8IY33	MILK2_HUMAN	H	125;337	ENSP00000385928:R125H;ENSP00000297508:R337H	ENSP00000297508:R337H	R	-	2	0	MICALL2	1451222	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.011000	0.12721	-1.139000	0.02881	-1.090000	0.02178	CGC	MICALL2	-	NULL		0.716	MICALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MICALL2	HGNC	protein_coding	OTTHUMT00000239223.2	C	NM_182924		1484696	-1	no_errors	ENST00000297508	ensembl	human	known	70_37	missense	SNP	0.000	T
SKAP1	8631	genome.wustl.edu	37	17	46233793	46233793	+	Intron	SNP	C	C	T			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr17:46233793C>T	ENST00000336915.6	-	11	1048				MIR1203_ENST00000408812.1_RNA|SKAP1_ENST00000584924.1_Intron	NM_001075099.1|NM_003726.3	NP_001068567.1|NP_003717.3	Q86WV1	SKAP1_HUMAN	src kinase associated phosphoprotein 1						positive regulation of signal transduction (GO:0009967)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|SH2 domain binding (GO:0042169)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)			large_intestine(1)|lung(10)|prostate(2)|skin(4)|urinary_tract(1)	18						AGGAGACCTGCACCAGCGCCA	0.552																																																	0													88.0	83.0	85.0					17																	46233793		1568	3582	5150	SO:0001627	intron_variant	100302211			Y11215	CCDS32674.1	17q21.32	2013-01-10	2006-09-28	2006-09-28		ENSG00000141293		"""Pleckstrin homology (PH) domain containing"""	15605	protein-coding gene	gene with protein product		604969	"""src family associated phosphoprotein 1"""	SCAP1		9195899	Standard	NM_003726		Approved	SKAP55	uc002ini.1	Q86WV1		ENST00000336915.6:c.978+6037G>A	17.37:g.46233793C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DTV1|O15268	RNA	SNP	-	NULL	ENST00000336915.6	37	NULL	CCDS32674.1	17																																																																																			MIR1203	-	-		0.552	SKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIR1203	HGNC	protein_coding	OTTHUMT00000443432.1	C	NM_003726		46233793	-1	no_errors	ENST00000408812	ensembl	human	known	70_37	rna	SNP	1.000	T
USMG5	84833	genome.wustl.edu	37	10	105154054	105154054	+	5'UTR	SNP	C	C	T			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr10:105154054C>T	ENST00000369825.1	-	0	375				MIR1307_ENST00000408840.1_RNA|USMG5_ENST00000309579.3_Intron|PDCD11_ENST00000369797.3_5'Flank|USMG5_ENST00000369811.1_Intron|USMG5_ENST00000337003.4_5'UTR|USMG5_ENST00000369815.1_Intron			Q96IX5	USMG5_HUMAN	up-regulated during skeletal muscle growth 5 homolog (mouse)							extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)				breast(1)	1		Colorectal(252;0.142)		Epithelial(162;3.94e-09)|all cancers(201;2.76e-08)|BRCA - Breast invasive adenocarcinoma(275;0.197)		GACCGCCTATCTACCACGACC	0.493																																																	0													117.0	108.0	111.0					10																	105154054		1568	3582	5150	SO:0001623	5_prime_UTR_variant	100302174			BC007087	CCDS7548.1	10q24.33	2011-04-13	2008-06-05		ENSG00000173915	ENSG00000173915			30889	protein-coding gene	gene with protein product		615204	"""upregulated during skeletal muscle growth 5"", ""upregulated during skeletal muscle growth 5 homolog (mouse)"""			12477932	Standard	NM_032747		Approved	MGC14697, bA792D24.4, DAPIT	uc001kwx.2	Q96IX5	OTTHUMG00000018984	ENST00000369825.1:c.-108G>A	10.37:g.105154054C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R4N2|D3DR92	RNA	SNP	-	NULL	ENST00000369825.1	37	NULL	CCDS7548.1	10																																																																																			MIR1307	-	-		0.493	USMG5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	MIR1307	HGNC	protein_coding	OTTHUMT00000050142.1	C	NM_032747		105154054	-1	no_errors	ENST00000408840	ensembl	human	known	70_37	rna	SNP	1.000	T
MKL2	57496	genome.wustl.edu	37	16	14334201	14334201	+	Missense_Mutation	SNP	G	G	C			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr16:14334201G>C	ENST00000341243.5	+	8	906	c.906G>C	c.(904-906)caG>caC	p.Q302H	MKL2_ENST00000574045.1_Missense_Mutation_p.Q313H|MKL2_ENST00000572567.1_Missense_Mutation_p.Q302H|MKL2_ENST00000571589.1_Missense_Mutation_p.Q313H|MKL2_ENST00000318282.5_Missense_Mutation_p.Q313H|MKL2_ENST00000573051.1_Missense_Mutation_p.Q262H			Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	302					blood vessel morphogenesis (GO:0048514)|cardiac muscle tissue development (GO:0048738)|embryonic organ development (GO:0048568)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|muscle organ development (GO:0007517)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CACCAGATCAGAAGGGTGAGA	0.493																																																	0													98.0	93.0	95.0					16																	14334201		2197	4300	6497	SO:0001583	missense	57496			AB033069	CCDS32391.1	16p13.12	2012-11-29			ENSG00000186260	ENSG00000186260			29819	protein-coding gene	gene with protein product		609463				10574462	Standard	NM_014048		Approved	MRTF-B, FLJ31823	uc002dcg.3	Q9ULH7	OTTHUMG00000177379	ENST00000341243.5:c.906G>C	16.37:g.14334201G>C	ENSP00000345841:p.Gln302His	Somatic		WXS	Illumina HiSeq	Phase_IV	A6ND53|B4DGT8|Q68CT1|Q6UB16|Q86WW2|Q8N226	Missense_Mutation	SNP	pfam_RPEL_repeat,pfam_SAP_DNA-bd,smart_RPEL_repeat,smart_SAP_DNA-bd,pfscan_RPEL_repeat,pfscan_SAP_DNA-bd	p.Q302H	ENST00000341243.5	37	c.906		16	.	.	.	.	.	.	.	.	.	.	G	22.5	4.293742	0.80914	.	.	ENSG00000186260	ENST00000318282;ENST00000389126;ENST00000341243	.	.	.	5.78	4.81	0.61882	.	0.108718	0.64402	D	0.000004	T	0.79633	0.4479	M	0.82056	2.57	0.58432	D	0.999991	D;D;D;D	0.89917	0.999;1.0;0.998;0.998	D;D;D;D	0.85130	0.997;0.996;0.995;0.996	T	0.82806	-0.0275	9	0.87932	D	0	-17.0133	14.294	0.66300	0.072:0.0:0.928:0.0	.	262;313;302;313	Q9ULH7-2;B4DGT8;Q9ULH7;Q9ULH7-4	.;.;MKL2_HUMAN;.	H	313;302;302	.	ENSP00000339086:Q313H	Q	+	3	2	MKL2	14241702	1.000000	0.71417	0.999000	0.59377	0.861000	0.49209	8.013000	0.88655	1.413000	0.46997	0.655000	0.94253	CAG	MKL2	-	NULL		0.493	MKL2-202	KNOWN	basic	protein_coding	MKL2	HGNC	protein_coding		G	NM_014048		14334201	+1	no_errors	ENST00000341243	ensembl	human	known	70_37	missense	SNP	1.000	C
MOB3C	148932	genome.wustl.edu	37	1	47080684	47080684	+	Intron	SNP	C	C	T			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr1:47080684C>T	ENST00000319928.3	-	2	181				MOB3C_ENST00000371940.1_5'UTR|MKNK1_ENST00000545730.1_Intron|MOB3C_ENST00000477318.1_Intron|MOB3C_ENST00000271139.8_Missense_Mutation_p.R22K	NM_201403.2	NP_958805.1	Q70IA8	MOB3C_HUMAN	MOB kinase activator 3C								metal ion binding (GO:0046872)										TCTTCGACTTCTCACCCAAAG	0.473																																																	0													82.0	83.0	82.0					1																	47080684		2203	4300	6503	SO:0001627	intron_variant	148932			AK091808	CCDS539.1, CCDS540.1	1p34.1	2011-09-28	2011-09-28	2011-09-28	ENSG00000142961	ENSG00000142961		"""MOB kinase activators"""	29800	protein-coding gene	gene with protein product			"""MOB1, Mps One Binder kinase activator-like 2C (yeast)"""	MOBKL2C		12477932	Standard	NM_145279		Approved	MOB1E	uc001cqe.4	Q70IA8	OTTHUMG00000007989	ENST00000319928.3:c.50-1641G>A	1.37:g.47080684C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DQ22|Q0VA98|Q5TC10|Q5TC11|Q8NAZ2|Q8NF28	Missense_Mutation	SNP	pfam_Mob1_phocein,superfamily_Mob1_phocein	p.R22K	ENST00000319928.3	37	c.65	CCDS540.1	1	.	.	.	.	.	.	.	.	.	.	C	14.20	2.463899	0.43736	.	.	ENSG00000142961	ENST00000271139	.	.	.	3.5	1.55	0.23275	.	.	.	.	.	T	0.54711	0.1875	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49624	-0.8920	5	0.42905	T	0.14	.	4.6686	0.12678	0.0:0.6485:0.2265:0.1251	.	.	.	.	K	22	.	ENSP00000271139:R22K	R	-	2	0	MOBKL2C	46853271	0.830000	0.29337	0.644000	0.29465	0.155000	0.21991	1.219000	0.32479	0.442000	0.26555	0.655000	0.94253	AGA	MOB3C	-	NULL		0.473	MOB3C-201	KNOWN	basic|appris_principal|CCDS	protein_coding	MOB3C	HGNC	protein_coding		C	NM_145279		47080684	-1	no_errors	ENST00000271139	ensembl	human	known	70_37	missense	SNP	0.928	T
MOGS	7841	genome.wustl.edu	37	2	74688764	74688764	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr2:74688764C>T	ENST00000233616.4	-	4	2314	c.2152G>A	c.(2152-2154)Gac>Aac	p.D718N	MOGS_ENST00000452063.2_Missense_Mutation_p.D612N|MOGS_ENST00000462443.1_5'Flank|MOGS_ENST00000409065.1_3'UTR	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase	718					cellular protein metabolic process (GO:0044267)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucosidase activity (GO:0015926)|mannosyl-oligosaccharide glucosidase activity (GO:0004573)			cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						TGGCGGCTGTCGGCTAGAATG	0.582																																																	0													35.0	44.0	41.0					2																	74688764		2000	4187	6187	SO:0001583	missense	7841			X87237	CCDS42700.1, CCDS54370.1	2p13.1	2012-01-31			ENSG00000115275	ENSG00000115275	3.2.1.106		24862	protein-coding gene	gene with protein product	"""glucosidase I"", ""processing A-glucosidase I"""	601336				7635146, 8786151	Standard	NM_006302		Approved	GCS1, CWH41, DER7	uc010ffj.3	Q13724	OTTHUMG00000152886	ENST00000233616.4:c.2152G>A	2.37:g.74688764C>T	ENSP00000233616:p.Asp718Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K938|F5H6D0|Q17RN9|Q8TCT5	Missense_Mutation	SNP	pfam_Glycoside_hydrolase_63,superfamily_6-hairpin_glycosidase-like	p.D718N	ENST00000233616.4	37	c.2152	CCDS42700.1	2	.	.	.	.	.	.	.	.	.	.	C	20.7	4.026266	0.75390	.	.	ENSG00000115275	ENST00000233616;ENST00000452063	T;T	0.48836	0.8;0.8	5.15	5.15	0.70609	Six-hairpin glycosidase-like (1);	0.000000	0.85682	D	0.000000	T	0.62380	0.2423	L	0.50993	1.605	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.56335	-0.7996	10	0.30854	T	0.27	-20.915	16.1595	0.81693	0.0:1.0:0.0:0.0	.	718	Q13724	MOGS_HUMAN	N	718;612	ENSP00000233616:D718N;ENSP00000388201:D612N	ENSP00000233616:D718N	D	-	1	0	MOGS	74542272	0.999000	0.42202	0.998000	0.56505	0.971000	0.66376	4.074000	0.57577	2.687000	0.91594	0.563000	0.77884	GAC	MOGS	-	pfam_Glycoside_hydrolase_63,superfamily_6-hairpin_glycosidase-like		0.582	MOGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MOGS	HGNC	protein_coding	OTTHUMT00000328382.1	C	NM_006302		74688764	-1	no_errors	ENST00000233616	ensembl	human	known	70_37	missense	SNP	1.000	T
MT1A	4489	genome.wustl.edu	37	16	56670196	56670196	+	5'Flank	SNP	G	G	C			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr16:56670196G>C	ENST00000290705.8	+	0	0				MT1JP_ENST00000564564.1_RNA	NM_005946.2	NP_005937.2	P04731	MT1A_HUMAN	metallothionein 1A						cellular response to cadmium ion (GO:0071276)|cellular response to zinc ion (GO:0071294)|negative regulation of growth (GO:0045926)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(1)|lung(1)	3					Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	AGTGTGAGTGGAGAGGACATG	0.572																																																	0																																										SO:0001631	upstream_gene_variant	4498			BC029475	CCDS32454.1	16q13	2012-10-02	2007-03-02			ENSG00000205362		"""Metallothioneins"""	7393	protein-coding gene	gene with protein product		156350	"""metallothionein 1S"""	MT1, MT1S		6089206, 6327055	Standard	NM_005946		Approved		uc002ejq.3	P04731			16.37:g.56670196G>C	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV	Q86YX5	RNA	SNP	-	NULL	ENST00000290705.8	37	NULL	CCDS32454.1	16																																																																																			MT1JP	-	-		0.572	MT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MT1JP	HGNC	protein_coding	OTTHUMT00000434324.1	G	NM_005946		56670196	+1	no_errors	ENST00000564564	ensembl	human	known	70_37	rna	SNP	0.000	C
Unknown	0	genome.wustl.edu	37	3	195345578	195345578	+	IGR	SNP	C	C	T			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr3:195345578C>T								APOD (34502 upstream) : RP11-141C7.4 (21282 downstream)																							CACCGGGCCACGCCGCTCTGG	0.602																																																	0																																										SO:0001628	intergenic_variant	200958																															3.37:g.195345578C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	NULL	p.H17		37	c.51		3																																																																																			MUC20	-	NULL	0	0.602					MUC20	HGNC			C			195345578	+1	no_errors	ENST00000381954	ensembl	human	known	70_37	silent	SNP	0.021	T
MYOZ1	58529	genome.wustl.edu	37	10	75399732	75399732	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr10:75399732G>A	ENST00000359322.4	-	2	408	c.44C>T	c.(43-45)tCc>tTc	p.S15F		NM_021245.3	NP_067068.1			myozenin 1											central_nervous_system(1)|large_intestine(5)|lung(2)|ovary(2)|skin(2)	12	Prostate(51;0.0112)					CAGCTTGCTGGATTTCCTCTT	0.522																																																	0													170.0	146.0	154.0					10																	75399732		2203	4300	6503	SO:0001583	missense	58529			AF240633	CCDS7330.1	10q22.1	2008-07-03	2002-01-10	2002-01-11	ENSG00000177791	ENSG00000177791			13752	protein-coding gene	gene with protein product	"""calsarcin-2"""	605603	"""myozenin"""	MYOZ		11171996, 10984498	Standard	NM_021245		Approved	FATZ, CS-2	uc001jur.4	Q9NP98	OTTHUMG00000018466	ENST00000359322.4:c.44C>T	10.37:g.75399732G>A	ENSP00000352272:p.Ser15Phe	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Calsarcin-bd	p.S15F	ENST00000359322.4	37	c.44	CCDS7330.1	10	.	.	.	.	.	.	.	.	.	.	G	25.3	4.620233	0.87460	.	.	ENSG00000177791	ENST00000359322	T	0.65549	-0.16	5.87	5.87	0.94306	.	0.291574	0.44688	D	0.000421	T	0.68458	0.3003	L	0.56769	1.78	0.48395	D	0.999648	P	0.49253	0.921	P	0.48952	0.596	T	0.69884	-0.5024	10	0.56958	D	0.05	-7.065	17.6998	0.88291	0.0:0.0:1.0:0.0	.	15	Q9NP98	MYOZ1_HUMAN	F	15	ENSP00000352272:S15F	ENSP00000352272:S15F	S	-	2	0	MYOZ1	75069738	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	6.847000	0.75404	2.785000	0.95823	0.655000	0.94253	TCC	MYOZ1	-	pfam_Calsarcin-bd		0.522	MYOZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYOZ1	HGNC	protein_coding	OTTHUMT00000048654.1	G			75399732	-1	no_errors	ENST00000359322	ensembl	human	known	70_37	missense	SNP	1.000	A
NCOR1	9611	genome.wustl.edu	37	17	15964768	15964768	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr17:15964768G>A	ENST00000268712.3	-	37	6085	c.5828C>T	c.(5827-5829)tCg>tTg	p.S1943L	NCOR1_ENST00000395857.3_Missense_Mutation_p.S527L|NCOR1_ENST00000395851.1_Intron	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1943	Interaction with C1D. {ECO:0000250}.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		ATCCTTGTCCGAGGCAATTTG	0.458																																																	0													268.0	244.0	252.0					17																	15964768		2203	4300	6503	SO:0001583	missense	9611			AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.5828C>T	17.37:g.15964768G>A	ENSP00000268712:p.Ser1943Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Missense_Mutation	SNP	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.S1943L	ENST00000268712.3	37	c.5828	CCDS11175.1	17	.	.	.	.	.	.	.	.	.	.	G	19.95	3.922108	0.73213	.	.	ENSG00000141027	ENST00000268712;ENST00000395849;ENST00000395857	T;T	0.53857	0.6;0.6	5.87	5.87	0.94306	.	0.061410	0.64402	D	0.000002	T	0.62295	0.2416	M	0.66939	2.045	0.58432	D	0.999998	P;D;D;D	0.67145	0.951;0.988;0.996;0.968	B;B;P;P	0.53006	0.32;0.354;0.715;0.586	T	0.56105	-0.8034	10	0.12103	T	0.63	-3.9394	19.1914	0.93667	0.0:0.0:1.0:0.0	.	753;1847;1943;463	B4DZ48;E7EVK1;O75376;Q86YY1	.;.;NCOR1_HUMAN;.	L	1943;1847;527	ENSP00000268712:S1943L;ENSP00000379198:S527L	ENSP00000268712:S1943L	S	-	2	0	NCOR1	15905493	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.457000	0.80775	2.785000	0.95823	0.650000	0.86243	TCG	NCOR1	-	NULL		0.458	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCOR1	HGNC	protein_coding	OTTHUMT00000131751.5	G	NM_006311		15964768	-1	no_errors	ENST00000268712	ensembl	human	known	70_37	missense	SNP	1.000	A
NFATC4	4776	genome.wustl.edu	37	14	24838985	24838985	+	Silent	SNP	G	G	A			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr14:24838985G>A	ENST00000250373.4	+	2	522	c.381G>A	c.(379-381)ccG>ccA	p.P127P	NFATC4_ENST00000556169.1_Silent_p.P115P|NFATC4_ENST00000554344.1_Silent_p.P57P|NFATC4_ENST00000553708.1_Silent_p.P127P|NFATC4_ENST00000422617.3_Silent_p.P115P|NFATC4_ENST00000553469.1_Silent_p.P159P|NFATC4_ENST00000554591.1_Silent_p.P190P|NFATC4_ENST00000553879.1_Silent_p.P57P|NFATC4_ENST00000539237.2_Silent_p.P159P|NFATC4_ENST00000440487.2_3'UTR|NFATC4_ENST00000424781.2_Silent_p.P140P|NFATC4_ENST00000555453.1_Silent_p.P115P|NFATC4_ENST00000555590.1_Silent_p.P140P|NFATC4_ENST00000557451.1_Silent_p.P57P|NFATC4_ENST00000413692.2_Silent_p.P190P|NFATC4_ENST00000554050.1_Silent_p.P127P|NFATC4_ENST00000554661.1_Silent_p.P57P|NFATC4_ENST00000554966.1_Silent_p.P140P|NFATC4_ENST00000556279.1_Silent_p.P159P	NM_004554.4	NP_004545.2	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	127	Pro-rich.				cellular respiration (GO:0045333)|cellular response to lithium ion (GO:0071285)|cellular response to UV (GO:0034644)|heart development (GO:0007507)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of synaptic plasticity (GO:0048167)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|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 involved in negative regulation of transcription (GO:0001078)|transcription coactivator activity (GO:0003713)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		CGCCGGAGCCGCCAGCAGCGC	0.677																																																	0													7.0	9.0	8.0					14																	24838985		2164	4230	6394	SO:0001819	synonymous_variant	4776			BC053855	CCDS9629.1, CCDS45089.1, CCDS55909.1, CCDS55910.1, CCDS55911.1, CCDS73625.1	14q11.2	2009-11-24			ENSG00000100968	ENSG00000100968		"""Nuclear factor of activated T-cells"""	7778	protein-coding gene	gene with protein product		602699				7749981	Standard	NM_004554		Approved	NFAT3	uc010tok.2	Q14934	OTTHUMG00000029351	ENST00000250373.4:c.381G>A	14.37:g.24838985G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DDG5|B4DY55|B5B2U7|B5B2U8|B5B2U9|B5B2V0|B5B2V1|B5B2V2|B5B2V3|B5B2V4|B5B2V5|B5B2V7|B5B2V8|B5B2V9|B5B2W0|B5B2W1|B5B2W2|B5B2W3|B5B2W4|B5B2W5|B5B2W6|B5B2W7|B5B2W8|B5B2W9|B5B2X0|Q7Z598|Q96H68	Silent	SNP	pfam_RHD,pfam_IPT_TIG_rcpt,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT	p.P190	ENST00000250373.4	37	c.570	CCDS9629.1	14																																																																																			NFATC4	-	NULL		0.677	NFATC4-001	KNOWN	basic|CCDS	protein_coding	NFATC4	HGNC	protein_coding	OTTHUMT00000073206.6	G	NM_004554		24838985	+1	no_errors	ENST00000413692	ensembl	human	known	70_37	silent	SNP	0.763	A
NKX6-1	4825	genome.wustl.edu	37	4	85414693	85414693	+	Missense_Mutation	SNP	G	G	T			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr4:85414693G>T	ENST00000295886.4	-	3	1074	c.853C>A	c.(853-855)Cag>Aag	p.Q285K	NKX6-1_ENST00000515820.2_Missense_Mutation_p.Q11K	NM_006168.2	NP_006159.2	P78426	NKX61_HUMAN	NK6 homeobox 1	285					cell proliferation (GO:0008283)|cellular response to cytokine stimulus (GO:0071345)|cellular response to peptide hormone stimulus (GO:0071375)|detection of glucose (GO:0051594)|endocrine pancreas development (GO:0031018)|negative regulation of glial cell differentiation (GO:0045686)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte differentiation (GO:0048709)|organ morphogenesis (GO:0009887)|pancreas development (GO:0031016)|positive regulation of glial cell differentiation (GO:0045687)|positive regulation of insulin secretion (GO:0032024)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type B pancreatic cell development (GO:2000078)|regulation of axon extension (GO:0030516)|regulation of neuron migration (GO:2001222)|regulation of transcription from RNA polymerase II promoter involved in spinal cord motor neuron fate specification (GO:0021912)|regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification (GO:0021913)|response to drug (GO:0042493)|response to nicotine (GO:0035094)|smoothened signaling pathway (GO:0007224)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell maturation (GO:0072560)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	15		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.0013)		CGGCGGTTCTGGAACCAGACC	0.617																																																	0													58.0	60.0	59.0					4																	85414693		2203	4300	6503	SO:0001583	missense	4825			AH007313	CCDS3607.1	4q21.33	2012-03-09	2007-07-09	2002-10-04	ENSG00000163623	ENSG00000163623		"""Homeoboxes / ANTP class : NKL subclass"""	7839	protein-coding gene	gene with protein product		602563	"""NK homeobox (Drosophila), family 6, A"", ""NK6 transcription factor related, locus 1 (Drosophila)"""	NKX6A		9119408	Standard	NM_006168		Approved	Nkx6.1	uc003hpa.1	P78426	OTTHUMG00000130426	ENST00000295886.4:c.853C>A	4.37:g.85414693G>T	ENSP00000295886:p.Gln285Lys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_HTH_motif,prints_Homeobox_metazoa	p.Q285K	ENST00000295886.4	37	c.853	CCDS3607.1	4	.	.	.	.	.	.	.	.	.	.	G	20.4	3.977204	0.74360	.	.	ENSG00000163623	ENST00000295886;ENST00000515820	D	0.97575	-4.44	4.4	4.4	0.53042	Homeobox, eukaryotic (1);Homeodomain-related (1);Helix-turn-helix motif, lambda-like repressor (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.065791	0.64402	D	0.000007	D	0.97498	0.9181	M	0.84156	2.68	0.80722	D	1	P	0.46784	0.884	P	0.48704	0.587	D	0.98660	1.0683	10	0.87932	D	0	-16.3934	16.7939	0.85596	0.0:0.0:1.0:0.0	.	285	P78426	NKX61_HUMAN	K	285;11	ENSP00000295886:Q285K	ENSP00000295886:Q285K	Q	-	1	0	NKX6-1	85633717	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	6.435000	0.73412	2.276000	0.75962	0.467000	0.42956	CAG	NKX6-1	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_HTH_motif,prints_Homeobox_metazoa		0.617	NKX6-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NKX6-1	HGNC	protein_coding	OTTHUMT00000252814.2	G	NM_006168		85414693	-1	no_errors	ENST00000295886	ensembl	human	known	70_37	missense	SNP	1.000	T
NPHP4	261734	genome.wustl.edu	37	1	5993304	5993304	+	Missense_Mutation	SNP	G	G	T			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr1:5993304G>T	ENST00000378156.4	-	10	1470	c.1205C>A	c.(1204-1206)tCt>tAt	p.S402Y	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	402					actin cytoskeleton organization (GO:0030036)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		CACCCTTCCAGAATCAGCTTC	0.562																																																	0													55.0	59.0	58.0					1																	5993304		1990	4158	6148	SO:0001583	missense	261734			AB014573	CCDS44052.1	1p36	2010-03-26			ENSG00000131697	ENSG00000131697			19104	protein-coding gene	gene with protein product	"""nephroretinin"", ""nephrocystin-4"", ""POC10 centriolar protein homolog (Chlamydomonas)"""	607215				11920287, 12205563	Standard	XR_244787		Approved	SLSN4, KIAA0673, POC10	uc001alq.2	O75161	OTTHUMG00000000701	ENST00000378156.4:c.1205C>A	1.37:g.5993304G>T	ENSP00000367398:p.Ser402Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8IWC0	Missense_Mutation	SNP	NULL	p.S402Y	ENST00000378156.4	37	c.1205	CCDS44052.1	1	.	.	.	.	.	.	.	.	.	.	G	11.71	1.720278	0.30503	.	.	ENSG00000131697	ENST00000378156	D	0.88201	-2.35	4.5	2.5	0.30297	.	0.451473	0.20503	N	0.091046	D	0.90469	0.7015	L	0.57536	1.79	0.09310	N	1	D	0.63880	0.993	P	0.61592	0.891	T	0.81680	-0.0823	10	0.59425	D	0.04	.	7.6021	0.28081	0.0962:0.0:0.7361:0.1677	.	402	O75161	NPHP4_HUMAN	Y	402	ENSP00000367398:S402Y	ENSP00000367398:S402Y	S	-	2	0	NPHP4	5915891	0.100000	0.21855	0.001000	0.08648	0.183000	0.23260	2.841000	0.48223	0.964000	0.38108	0.655000	0.94253	TCT	NPHP4	-	NULL		0.562	NPHP4-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	NPHP4	HGNC	protein_coding	OTTHUMT00000001715.2	G			5993304	-1	no_errors	ENST00000378156	ensembl	human	known	70_37	missense	SNP	0.001	T
NR1H2	7376	genome.wustl.edu	37	19	50885827	50885827	+	Missense_Mutation	SNP	C	C	G	rs143601595	byFrequency	TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr19:50885827C>G	ENST00000253727.5	+	10	1586	c.1351C>G	c.(1351-1353)Ctg>Gtg	p.L451V	POLD1_ENST00000440232.2_5'Flank|NR1H2_ENST00000598168.1_Missense_Mutation_p.L421V|POLD1_ENST00000599857.1_5'Flank|NR1H2_ENST00000411902.2_Missense_Mutation_p.L354V|NR1H2_ENST00000599105.1_Missense_Mutation_p.L407V|NR1H2_ENST00000593926.1_Missense_Mutation_p.L451V|NR1H2_ENST00000542413.1_Missense_Mutation_p.L182V	NM_007121.5	NP_009052	P55055	NR1H2_HUMAN	nuclear receptor subfamily 1, group H, member 2	451	Ligand-binding. {ECO:0000255}.				cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of lipid transport (GO:0032369)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of pinocytosis (GO:0048550)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|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 transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cholesterol homeostasis (GO:2000188)|retinoic acid receptor signaling pathway (GO:0048384)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	apolipoprotein A-I receptor binding (GO:0034191)|ATPase binding (GO:0051117)|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)|sequence-specific transcription regulatory region DNA binding RNA polymerase II transcription factor recruiting transcription factor activity (GO:0001133)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	8		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		GCTGCCGCCTCTGCTGTCGGA	0.662																																																	0													25.0	32.0	30.0					19																	50885827		2044	4211	6255	SO:0001583	missense	7376			U14534	CCDS42593.1, CCDS58673.1	19q13.3	2013-01-16				ENSG00000131408		"""Nuclear hormone receptors"""	7965	protein-coding gene	gene with protein product	"""liver X receptor-beta"""	600380	"""ubiquitously-expressed nuclear receptor"""	UNR		7782080, 7971966	Standard	NM_007121		Approved	NER, NER-I, RIP15, LXR-b	uc010enw.4	P55055		ENST00000253727.5:c.1351C>G	19.37:g.50885827C>G	ENSP00000253727:p.Leu451Val	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K490|B4DNM6|E7EWA6|Q12970|Q5I0Y1	Missense_Mutation	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_Ecdystd_rcpt,prints_ThyrH_rcpt	p.L451V	ENST00000253727.5	37	c.1351	CCDS42593.1	19	.	.	.	.	.	.	.	.	.	.	c	13.19	2.162521	0.38217	.	.	ENSG00000131408	ENST00000542413;ENST00000253727;ENST00000411902;ENST00000376942	D;D;D	0.98617	-5.03;-3.47;-3.84	4.26	-1.72	0.08107	Nuclear hormone receptor, ligand-binding (2);	0.512935	0.15222	N	0.273858	D	0.98817	0.9601	M	0.86953	2.85	0.30300	N	0.789542	D;P;D	0.57899	0.98;0.949;0.981	P;D;P	0.70227	0.698;0.968;0.871	D	0.97392	0.9990	10	0.72032	D	0.01	.	8.9716	0.35910	0.0:0.4294:0.0:0.5706	.	451;354;452	P55055;E7EWA6;F1D8P7	NR1H2_HUMAN;.;.	V	182;451;354;449	ENSP00000445074:L182V;ENSP00000253727:L451V;ENSP00000396151:L354V	ENSP00000253727:L451V	L	+	1	2	NR1H2	55577639	0.782000	0.28689	0.504000	0.27639	0.299000	0.27559	1.453000	0.35167	-0.322000	0.08615	-0.265000	0.10407	CTG	NR1H2	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,prints_Ecdystd_rcpt		0.662	NR1H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR1H2	HGNC	protein_coding	OTTHUMT00000464724.2	C			50885827	+1	no_errors	ENST00000253727	ensembl	human	known	70_37	missense	SNP	0.858	G
OR2H2	7932	genome.wustl.edu	37	6	29556211	29556211	+	Silent	SNP	C	C	T			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr6:29556211C>T	ENST00000383640.2	+	1	529	c.490C>T	c.(490-492)Ctg>Ttg	p.L164L	GABBR1_ENST00000355973.3_Intron	NM_007160.3	NP_009091.3	O95918	OR2H2_HUMAN	olfactory receptor, family 2, subfamily H, member 2	164					defense response (GO:0006952)|detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|mating (GO:0007618)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	14						CACCCTGCACCTGCCCTTCTG	0.582																																																	0													126.0	129.0	128.0					6																	29556211		1511	2708	4219	SO:0001819	synonymous_variant	7932				CCDS34365.1	6p22.2-p21.31	2012-08-09				ENSG00000204657		"""GPCR / Class A : Olfactory receptors"""	8253	protein-coding gene	gene with protein product		600578					Standard	XM_005249407		Approved	hs6M1-12	uc003nmr.1	O95918		ENST00000383640.2:c.490C>T	6.37:g.29556211C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q15062|Q2M1Y3|Q5STL8|Q5SUK1|Q6IFN7|Q6NTB7|Q96R14	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L164	ENST00000383640.2	37	c.490	CCDS34365.1	6																																																																																			OR2H2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM		0.582	OR2H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2H2	HGNC	protein_coding	OTTHUMT00000076057.2	C			29556211	+1	no_errors	ENST00000383640	ensembl	human	known	70_37	silent	SNP	0.954	T
OR4M2	390538	genome.wustl.edu	37	15	22368878	22368878	+	Silent	SNP	C	C	G			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr15:22368878C>G	ENST00000332663.2	+	1	401	c.303C>G	c.(301-303)ctC>ctG	p.L101L	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	101						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TTGCACAGCTCTTCTTCTTAC	0.458																																																	0													305.0	256.0	273.0					15																	22368878		2203	4300	6503	SO:0001819	synonymous_variant	390538			AC060768	CCDS32172.1	15q11.2	2013-09-23			ENSG00000182974	ENSG00000182974		"""GPCR / Class A : Olfactory receptors"""	15373	protein-coding gene	gene with protein product							Standard	NM_001004719		Approved		uc010tzu.2	Q8NGB6	OTTHUMG00000171738	ENST00000332663.2:c.303C>G	15.37:g.22368878C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B9EH16|Q6IEY2	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L101	ENST00000332663.2	37	c.303	CCDS32172.1	15																																																																																			OR4M2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.458	OR4M2-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	OR4M2	HGNC	protein_coding	OTTHUMT00000414921.1	C			22368878	+1	no_errors	ENST00000332663	ensembl	human	known	70_37	silent	SNP	0.541	G
OR52N1	79473	genome.wustl.edu	37	11	5809374	5809374	+	Nonsense_Mutation	SNP	G	G	A			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr11:5809374G>A	ENST00000317078.1	-	1	672	c.673C>T	c.(673-675)Caa>Taa	p.Q225*	TRIM5_ENST00000380027.1_Intron	NM_001001913.1	NP_001001913.1	Q8NH53	O52N1_HUMAN	olfactory receptor, family 52, subfamily N, member 1	225						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3)	31		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		ACAACTGCTTGAAGAATCATA	0.478																																																	0													130.0	118.0	122.0					11																	5809374		2201	4296	6497	SO:0001587	stop_gained	79473			AB065538	CCDS31398.1	11p15.4	2012-08-09			ENSG00000181001	ENSG00000181001		"""GPCR / Class A : Olfactory receptors"""	14853	protein-coding gene	gene with protein product							Standard	NM_001001913		Approved		uc010qzo.2	Q8NH53	OTTHUMG00000168800	ENST00000317078.1:c.673C>T	11.37:g.5809374G>A	ENSP00000322823:p.Gln225*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6IFF6	Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	p.Q225*	ENST00000317078.1	37	c.673	CCDS31398.1	11	.	.	.	.	.	.	.	.	.	.	G	10.62	1.400165	0.25291	.	.	ENSG00000181001	ENST00000317078	.	.	.	4.71	-0.238	0.13055	.	0.655377	0.12417	N	0.470757	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	14.0151	0.64519	0.0:0.0:0.2364:0.7636	.	.	.	.	X	225	.	ENSP00000322823:Q225X	Q	-	1	0	OR52N1	5765950	0.000000	0.05858	0.023000	0.16930	0.352000	0.29268	-0.509000	0.06336	0.144000	0.18951	0.609000	0.83330	CAA	OR52N1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.478	OR52N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52N1	HGNC	protein_coding	OTTHUMT00000401142.1	G	NM_001001913		5809374	-1	no_errors	ENST00000317078	ensembl	human	known	70_37	nonsense	SNP	0.007	A
MED29	55588	genome.wustl.edu	37	19	39879479	39879479	+	5'Flank	SNP	C	C	T			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr19:39879479C>T	ENST00000599213.2	+	0	0				PAF1_ENST00000221265.3_Silent_p.V221V|MED29_ENST00000315588.5_5'Flank|MED29_ENST00000594368.1_5'Flank|PAF1_ENST00000595564.1_Silent_p.V211V|PAF1_ENST00000221266.7_Silent_p.V188V			Q9NX70	MED29_HUMAN	mediator complex subunit 29						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mediator complex (GO:0016592)|nucleus (GO:0005634)				lung(2)|ovary(1)|pancreas(1)	4	all_cancers(60;7.82e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;1.04e-26)|all cancers(26;7.68e-24)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			AGTCAAAGATCACCTGAGCAC	0.547																																																	0													106.0	81.0	89.0					19																	39879479		2203	4300	6503	SO:0001631	upstream_gene_variant	54623			AL137304, AY729650	CCDS33021.1	19q13.2	2007-07-30	2007-07-30	2007-07-30		ENSG00000063322			23074	protein-coding gene	gene with protein product		612914	"""intersex-like (Drosophila)"""	IXL		15555573	Standard	NM_017592		Approved	DKFZp434H247	uc010xux.3	Q9NX70			19.37:g.39879479C>T	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DNQ6|M0R2E4|Q5XX09|Q9NTF4	Silent	SNP	pfam_RNA_pol_II-assoc_Paf1	p.V221	ENST00000599213.2	37	c.663		19																																																																																			PAF1	-	pfam_RNA_pol_II-assoc_Paf1		0.547	MED29-011	KNOWN	basic|appris_candidate	protein_coding	PAF1	HGNC	protein_coding	OTTHUMT00000470870.1	C	XM_290829		39879479	-1	no_errors	ENST00000221265	ensembl	human	known	70_37	silent	SNP	0.839	T
PCDHB14	56122	genome.wustl.edu	37	5	140603505	140603505	+	Nonsense_Mutation	SNP	C	C	G			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr5:140603505C>G	ENST00000239449.4	+	1	428	c.428C>G	c.(427-429)tCa>tGa	p.S143*	PCDHB14_ENST00000515856.2_5'UTR	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	143	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATTAAAATATCAGAAGGTACC	0.388																																					Ovarian(141;50 1831 27899 33809 37648)												0													65.0	70.0	69.0					5																	140603505		2201	4300	6501	SO:0001587	stop_gained	56122			AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"""Cadherins / Protocadherins : Clustered"""	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.428C>G	5.37:g.140603505C>G	ENSP00000239449:p.Ser143*	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DPE2|Q4FZA4|Q4KN11	Nonsense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S143*	ENST00000239449.4	37	c.428	CCDS4256.1	5	.	.	.	.	.	.	.	.	.	.	-	17.90	3.502992	0.64298	.	.	ENSG00000120327	ENST00000239449	.	.	.	4.92	4.03	0.46877	.	.	.	.	.	.	.	.	.	.	.	0.26261	N	0.978577	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	.	8.5447	0.33415	0.0:0.7614:0.1554:0.0833	.	.	.	.	X	143	.	ENSP00000239449:S143X	S	+	2	0	PCDHB14	140583689	0.000000	0.05858	1.000000	0.80357	0.932000	0.56968	-0.467000	0.06664	2.434000	0.82447	0.650000	0.86243	TCA	PCDHB14	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin		0.388	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB14	HGNC	protein_coding	OTTHUMT00000251814.2	C	NM_018934		140603505	+1	no_errors	ENST00000239449	ensembl	human	known	70_37	nonsense	SNP	0.311	G
PCDHB4	56131	genome.wustl.edu	37	5	140502607	140502607	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr5:140502607C>T	ENST00000194152.1	+	1	1027	c.1027C>T	c.(1027-1029)Ccc>Tcc	p.P343S	AC005754.8_ENST00000606030.1_lincRNA	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	343	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P343T(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAATGACAATCCCCCAGAACT	0.443																																																	1	Substitution - Missense(1)	lung(1)											151.0	162.0	158.0					5																	140502607		2203	4300	6503	SO:0001583	missense	56131			AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"""Cadherins / Protocadherins : Clustered"""	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.1027C>T	5.37:g.140502607C>T	ENSP00000194152:p.Pro343Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	Q4V761	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P343S	ENST00000194152.1	37	c.1027	CCDS4246.1	5	.	.	.	.	.	.	.	.	.	.	C	3.121	-0.180447	0.06380	.	.	ENSG00000081818	ENST00000194152	T	0.39056	1.1	4.41	1.42	0.22433	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.30947	0.0781	L	0.33753	1.03	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.24764	-1.0151	9	0.46703	T	0.11	.	9.6638	0.39972	0.0781:0.2771:0.6448:0.0	.	343	Q9Y5E5	PCDB4_HUMAN	S	343	ENSP00000194152:P343S	ENSP00000194152:P343S	P	+	1	0	PCDHB4	140482791	0.000000	0.05858	0.717000	0.30585	0.278000	0.26855	0.126000	0.15769	0.603000	0.29913	-0.171000	0.13296	CCC	PCDHB4	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin		0.443	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB4	HGNC	protein_coding	OTTHUMT00000251812.2	C	NM_018938		140502607	+1	no_errors	ENST00000194152	ensembl	human	known	70_37	missense	SNP	0.088	T
PCDHB14	56122	genome.wustl.edu	37	5	140604233	140604233	+	Missense_Mutation	SNP	C	C	G			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr5:140604233C>G	ENST00000239449.4	+	1	1156	c.1156C>G	c.(1156-1158)Caa>Gaa	p.Q386E	PCDHB14_ENST00000515856.2_Missense_Mutation_p.Q233E	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	386	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTGCTCTATTCAAGATAACCT	0.423																																					Ovarian(141;50 1831 27899 33809 37648)												0													110.0	115.0	113.0					5																	140604233		2203	4300	6503	SO:0001583	missense	56122			AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"""Cadherins / Protocadherins : Clustered"""	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.1156C>G	5.37:g.140604233C>G	ENSP00000239449:p.Gln386Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DPE2|Q4FZA4|Q4KN11	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.Q386E	ENST00000239449.4	37	c.1156	CCDS4256.1	5	.	.	.	.	.	.	.	.	.	.	-	2.296	-0.361210	0.05103	.	.	ENSG00000120327	ENST00000515856;ENST00000239449	T;T	0.51817	0.69;0.69	4.54	3.66	0.41972	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.37433	0.1003	L	0.35487	1.065	0.09310	N	1	B	0.21147	0.052	B	0.20384	0.029	T	0.18085	-1.0348	9	0.22109	T	0.4	.	13.6752	0.62449	0.0:0.5208:0.4792:0.0	.	386	Q9Y5E9	PCDBE_HUMAN	E	233;386	ENSP00000444518:Q233E;ENSP00000239449:Q386E	ENSP00000239449:Q386E	Q	+	1	0	PCDHB14	140584417	0.000000	0.05858	0.085000	0.20634	0.667000	0.39255	-0.242000	0.08928	1.021000	0.39600	0.586000	0.80456	CAA	PCDHB14	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.423	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB14	HGNC	protein_coding	OTTHUMT00000251814.2	C	NM_018934		140604233	+1	no_errors	ENST00000239449	ensembl	human	known	70_37	missense	SNP	0.041	G
PDP1	54704	genome.wustl.edu	37	8	94934993	94934993	+	Silent	SNP	C	C	T			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr8:94934993C>T	ENST00000297598.4	+	2	975	c.706C>T	c.(706-708)Cta>Tta	p.L236L	PDP1_ENST00000396200.3_Silent_p.L261L|PDP1_ENST00000520728.1_Silent_p.L236L|PDP1_ENST00000517764.1_Silent_p.L236L	NM_001161781.1|NM_018444.3	NP_001155253.1|NP_060914.2	Q9P0J1	PDP1_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 1	236					cellular metabolic process (GO:0044237)|peptidyl-threonine dephosphorylation (GO:0035970)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	[pyruvate dehydrogenase (lipoamide)] phosphatase activity (GO:0004741)|metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18						TAAGGAGGCTCTAATTAATGC	0.438																																																	0													121.0	121.0	121.0					8																	94934993		2203	4300	6503	SO:0001819	synonymous_variant	54704			AF155661	CCDS6259.1, CCDS55262.1	8q22.1	2012-04-17	2009-06-12	2009-06-12	ENSG00000164951	ENSG00000164951	3.1.3.43	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	9279	protein-coding gene	gene with protein product		605993	"""protein phosphatase 2C, magnesium-dependent, catalytic subunit"""	PPM2C		8396421	Standard	NM_001161779		Approved	PDP, PDH	uc003ygf.3	Q9P0J1		ENST00000297598.4:c.706C>T	8.37:g.94934993C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KX71|J3KPU0|Q5U5K1	Silent	SNP	pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like	p.L261	ENST00000297598.4	37	c.781	CCDS6259.1	8																																																																																			PDP1	-	pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like		0.438	PDP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PDP1	HGNC	protein_coding	OTTHUMT00000378415.2	C	NM_018444		94934993	+1	no_errors	ENST00000396200	ensembl	human	known	70_37	silent	SNP	0.988	T
PGAP1	80055	genome.wustl.edu	37	2	197784868	197784868	+	Missense_Mutation	SNP	C	C	G			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr2:197784868C>G	ENST00000354764.4	-	2	268	c.154G>C	c.(154-156)Gaa>Caa	p.E52Q	PGAP1_ENST00000409188.1_Missense_Mutation_p.E10Q|PGAP1_ENST00000409475.1_Missense_Mutation_p.E52Q|PGAP1_ENST00000485830.1_5'UTR	NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1	52					anterior/posterior axis specification (GO:0009948)|attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|embryonic pattern specification (GO:0009880)|forebrain regionalization (GO:0021871)|head development (GO:0060322)|intracellular protein transport (GO:0006886)|myo-inositol transport (GO:0015798)|post-translational protein modification (GO:0043687)|sensory perception of sound (GO:0007605)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	nuclease activity (GO:0004518)|phosphoric ester hydrolase activity (GO:0042578)			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						TTTGGAAGTTCTATTTTCTAC	0.338																																																	0													104.0	108.0	107.0					2																	197784868		2203	4300	6503	SO:0001583	missense	80055				CCDS2318.1	2q33.1	2014-03-03			ENSG00000197121	ENSG00000197121			25712	protein-coding gene	gene with protein product	"""GPI inositol-deacylase"""	611655				14734546, 17711852, 24482476	Standard	XM_005246866		Approved	FLJ12377, Bst1, SPG67	uc002utw.3	Q75T13	OTTHUMG00000132743	ENST00000354764.4:c.154G>C	2.37:g.197784868C>G	ENSP00000346809:p.Glu52Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q4G0R8|Q4ZG47|Q53SM0|Q6AW92|Q6UWV4|Q9HA24	Missense_Mutation	SNP	pfam_PGAP1-like	p.E52Q	ENST00000354764.4	37	c.154	CCDS2318.1	2	.	.	.	.	.	.	.	.	.	.	C	7.464	0.645353	0.14451	.	.	ENSG00000197121	ENST00000354764;ENST00000409475;ENST00000409188	.	.	.	5.11	2.28	0.28536	.	0.543388	0.20851	N	0.084533	T	0.15046	0.0363	N	0.08118	0	0.24173	N	0.995616	B;B	0.18968	0.032;0.005	B;B	0.12837	0.008;0.003	T	0.24190	-1.0167	9	0.14252	T	0.57	-5.3558	6.7628	0.23550	0.0:0.3235:0.556:0.1204	.	52;52	Q75T13-3;Q75T13	.;PGAP1_HUMAN	Q	52;52;10	.	ENSP00000346809:E52Q	E	-	1	0	PGAP1	197493113	0.999000	0.42202	1.000000	0.80357	0.976000	0.68499	0.552000	0.23376	0.812000	0.34326	-0.176000	0.13171	GAA	PGAP1	-	NULL		0.338	PGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGAP1	HGNC	protein_coding	OTTHUMT00000256103.5	C	NM_024989		197784868	-1	no_errors	ENST00000354764	ensembl	human	known	70_37	missense	SNP	0.998	G
PHC2	1912	genome.wustl.edu	37	1	33832940	33832940	+	Silent	SNP	G	G	A			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr1:33832940G>A	ENST00000257118.5	-	6	806	c.753C>T	c.(751-753)gcC>gcT	p.A251A	PHC2_ENST00000419414.2_Silent_p.A251A|PHC2_ENST00000373416.1_5'UTR|PHC2_ENST00000431992.1_Silent_p.A222A	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN	polyhomeotic homolog 2 (Drosophila)	251					multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				TGGGTTTCAGGGCCAAGCTGG	0.637											OREG0013344	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													61.0	80.0	73.0					1																	33832940		2203	4298	6501	SO:0001819	synonymous_variant	1912			AJ419231	CCDS378.1, CCDS379.1	1p34.3	2013-01-10	2006-09-12	2002-11-15	ENSG00000134686	ENSG00000134686		"""Sterile alpha motif (SAM) domain containing"""	3183	protein-coding gene	gene with protein product		602979	"""early development regulator 2 (homolog of polyhomeotic 2)"", ""polyhomeotic-like 2 (Drosophila)"""	EDR2		9121482, 12384788	Standard	NM_198040		Approved	HPH2	uc001bxg.1	Q8IXK0	OTTHUMG00000004133	ENST00000257118.5:c.753C>T	1.37:g.33832940G>A		Somatic	843	WXS	Illumina HiSeq	Phase_IV	A1L4Q1|A8KA40|D3DPR2|Q2TAL3|Q5T0C1|Q6NUJ6|Q6ZQR1|Q8N306|Q8TAG8|Q96BL4|Q9Y4Y7	Silent	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM,pfscan_Znf_FCS	p.A251	ENST00000257118.5	37	c.753	CCDS378.1	1																																																																																			PHC2	-	NULL		0.637	PHC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PHC2	HGNC	protein_coding	OTTHUMT00000011895.1	G	NM_198040		33832940	-1	no_errors	ENST00000419414	ensembl	human	known	70_37	silent	SNP	1.000	A
PHEX	5251	genome.wustl.edu	37	X	22095639	22095639	+	Missense_Mutation	SNP	G	G	A	rs138497409		TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chrX:22095639G>A	ENST00000379374.4	+	5	1047	c.482G>A	c.(481-483)cGg>cAg	p.R161Q	PHEX_ENST00000535894.1_Missense_Mutation_p.R64Q|PHEX_ENST00000537599.1_Missense_Mutation_p.R161Q	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	161					bone mineralization (GO:0030282)|cell-cell signaling (GO:0007267)|cellular protein modification process (GO:0006464)|organophosphate metabolic process (GO:0019637)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						CACATCCTACGGCATTCACCT	0.473																																																	0								G	GLN/ARG	2,3833		0,2,1630,571	190.0	176.0	181.0		482	5.4	1.0	X	dbSNP_134	181	0,6728		0,0,2428,1872	no	missense	PHEX	NM_000444.4	43	0,2,4058,2443	AA,AG,GG,G		0.0,0.0522,0.0189	benign	161/750	22095639	2,10561	2203	4300	6503	SO:0001583	missense	5251			U82970	CCDS14204.1	Xp22.2-p22.1	2008-07-31	2008-07-31		ENSG00000102174	ENSG00000102174			8918	protein-coding gene	gene with protein product		300550	"""phosphate regulating gene with homologies to endopeptidases on the X chromosome (hypophosphatemia, vitamin D resistant rickets)"""	HYP, HPDR		7550339, 9070861	Standard	NM_000444		Approved	PEX, HPDR1, HYP1, XLH	uc004dah.3	P78562	OTTHUMG00000021241	ENST00000379374.4:c.482G>A	X.37:g.22095639G>A	ENSP00000368682:p.Arg161Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	O00678|Q13646|Q2M325|Q93032|Q99827	Missense_Mutation	SNP	pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C	p.R161Q	ENST00000379374.4	37	c.482	CCDS14204.1	X	.	.	.	.	.	.	.	.	.	.	G	12.16	1.854373	0.32791	5.22E-4	0.0	ENSG00000102174	ENST00000379374;ENST00000537599;ENST00000535894	D;D;D	0.81659	-1.52;-1.52;-1.52	5.39	5.39	0.77823	Peptidase M13 (1);	0.211384	0.48767	D	0.000163	T	0.52805	0.1757	N	0.05050	-0.12	0.80722	D	1	P;B	0.42871	0.792;0.11	B;B	0.28709	0.093;0.017	T	0.57780	-0.7752	10	0.22109	T	0.4	.	8.5543	0.33471	0.2285:0.0:0.7715:0.0	.	161;161	F5GXU4;P78562	.;PHEX_HUMAN	Q	161;161;64	ENSP00000368682:R161Q;ENSP00000440362:R161Q;ENSP00000439418:R64Q	ENSP00000368682:R161Q	R	+	2	0	PHEX	22005560	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	2.847000	0.48270	2.248000	0.74166	0.594000	0.82650	CGG	PHEX	-	pfam_Peptidase_M13_N		0.473	PHEX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHEX	HGNC	protein_coding	OTTHUMT00000056035.1	G	NM_000444		22095639	+1	no_errors	ENST00000379374	ensembl	human	known	70_37	missense	SNP	0.998	A
PIEZO2	63895	genome.wustl.edu	37	18	10789223	10789223	+	Missense_Mutation	SNP	G	G	T			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr18:10789223G>T	ENST00000503781.3	-	15	2022	c.2023C>A	c.(2023-2025)Ctg>Atg	p.L675M	PIEZO2_ENST00000580640.1_Missense_Mutation_p.L675M|PIEZO2_ENST00000383408.2_5'Flank|PIEZO2_ENST00000302079.6_Missense_Mutation_p.L675M	NM_022068.2	NP_071351.2	Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	675					cation transport (GO:0006812)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|regulation of membrane potential (GO:0042391)|response to mechanical stimulus (GO:0009612)	integral component of membrane (GO:0016021)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)										AGATTGCCCAGGACTTTCATG	0.473																																																	0													579.0	482.0	512.0					18																	10789223		692	1591	2283	SO:0001583	missense	63895			AK027056		18p11.21	2012-11-19	2011-08-31	2011-08-31	ENSG00000154864	ENSG00000154864			26270	protein-coding gene	gene with protein product		613629	"""chromosome 18 open reading frame 30"", ""chromosome 18 open reading frame 58"", ""family with sequence similarity 38, member B"""	FAM38B2, C18orf30, C18orf58, FAM38B		20813920, 21056836, 21299953	Standard	NM_022068		Approved	FLJ23403, FLJ23144, HsT748, HsT771, FLJ34907	uc002kos.2	Q9H5I5	OTTHUMG00000178507	ENST00000503781.3:c.2023C>A	18.37:g.10789223G>T	ENSP00000421377:p.Leu675Met	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z812|M4GPJ9|Q6ZS91|Q8N787|Q8NAR6|Q9H5R4	Missense_Mutation	SNP	NULL	p.L675M	ENST00000503781.3	37	c.2023		18	.	.	.	.	.	.	.	.	.	.	G	8.647	0.897263	0.17686	.	.	ENSG00000154864	ENST00000302079	T	0.12984	2.63	5.85	2.77	0.32553	.	.	.	.	.	T	0.23210	0.0561	M	0.72894	2.215	0.80722	D	1	.	.	.	.	.	.	T	0.01360	-1.1375	7	0.62326	D	0.03	.	5.2755	0.15647	0.1763:0.1053:0.5993:0.1191	.	.	.	.	M	675	ENSP00000303316:L675M	ENSP00000303316:L675M	L	-	1	2	FAM38B	10779223	0.676000	0.27567	0.974000	0.42286	0.847000	0.48162	0.939000	0.28978	0.808000	0.34231	0.655000	0.94253	CTG	PIEZO2	-	NULL		0.473	PIEZO2-003	NOVEL	basic|appris_principal	protein_coding	PIEZO2	HGNC	protein_coding	OTTHUMT00000442385.4	G	NM_022068		10789223	-1	no_errors	ENST00000582913	ensembl	human	known	70_37	missense	SNP	0.345	T
PIK3CA	5290	genome.wustl.edu	37	3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	rs121913273		TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> K (in CLOVE, KERSEB, CRC and BC; also found in glioblastoma multiforme and endometrial carcinoma; 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). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|E -> Q (found in an endometrial carcinoma sample; unknown pathological significance). {ECO:0000269|PubMed:16322209}.|E -> V (in BC; unknown pathological significance). {ECO:0000269|PubMed:16353168}.		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.E542K(545)|p.E542Q(10)		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)	TCCTCTCTCTGAAATCACTGA	0.333	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	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"""	555	Substitution - Missense(555)	breast(176)|large_intestine(166)|urinary_tract(45)|endometrium(37)|skin(19)|lung(18)|stomach(16)|ovary(16)|thyroid(14)|upper_aerodigestive_tract(9)|central_nervous_system(7)|cervix(6)|liver(6)|oesophagus(5)|penis(4)|kidney(3)|soft_tissue(2)|haematopoietic_and_lymphoid_tissue(2)|prostate(2)|biliary_tract(1)|pituitary(1)											56.0	56.0	56.0					3																	178936082		1809	4069	5878	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.1624G>A	3.37:g.178936082G>A	ENSP00000263967:p.Glu542Lys	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.E542K	ENST00000263967.3	37	c.1624	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	34	5.360420	0.95877	.	.	ENSG00000121879	ENST00000263967	T	0.62105	0.05	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	0.69287	0.3094	L	0.41356	1.27	0.80722	D	1	D	0.65815	0.995	D	0.63192	0.912	T	0.60296	-0.7291	10	0.09843	T	0.71	-23.9623	20.0024	0.97423	0.0:0.0:1.0:0.0	.	542	P42336	PK3CA_HUMAN	K	542	ENSP00000263967:E542K	ENSP00000263967:E542K	E	+	1	0	PIK3CA	180418776	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAA	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom		0.333	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	G			178936082	+1	no_errors	ENST00000263967	ensembl	human	known	70_37	missense	SNP	1.000	A
PIK3CA	5290	genome.wustl.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	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
PIWIL3	440822	genome.wustl.edu	37	22	25115784	25115784	+	Silent	SNP	C	C	T			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr22:25115784C>T	ENST00000332271.5	-	20	2879	c.2463G>A	c.(2461-2463)acG>acA	p.T821T	PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000533313.1_Silent_p.T703T|PIWIL3_ENST00000527701.1_Silent_p.T703T	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	821	Piwi. {ECO:0000255|PROSITE- ProRule:PRU00150}.				cell differentiation (GO:0030154)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	RNA binding (GO:0003723)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TCAAGCCAATCGTGTCATAGA	0.383																																																	0													100.0	95.0	97.0					22																	25115784		2203	4300	6503	SO:0001819	synonymous_variant	440822			AB079368	CCDS33623.1	22q11.23	2013-02-15	2013-02-15		ENSG00000184571	ENSG00000184571		"""Argonaute/PIWI family"""	18443	protein-coding gene	gene with protein product		610314	"""piwi-like 3 (Drosophila)"""			12906857	Standard	NM_001008496		Approved	HIWI3	uc003abd.2	Q7Z3Z3	OTTHUMG00000150788	ENST00000332271.5:c.2463G>A	22.37:g.25115784C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Piwi,pfam_PAZ,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi	p.T821	ENST00000332271.5	37	c.2463	CCDS33623.1	22																																																																																			PIWIL3	-	pfam_Piwi,superfamily_RNaseH-like_dom,smart_Piwi,pfscan_Piwi		0.383	PIWIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIWIL3	HGNC	protein_coding	OTTHUMT00000320084.2	C	NM_001008496		25115784	-1	no_errors	ENST00000332271	ensembl	human	known	70_37	silent	SNP	0.000	T
PLA2G4F	255189	genome.wustl.edu	37	15	42442920	42442920	+	Silent	SNP	C	C	T			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr15:42442920C>T	ENST00000382396.4	-	8	743	c.657G>A	c.(655-657)ttG>ttA	p.L219L	PLA2G4F_ENST00000397272.3_Silent_p.L219L			Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	219					arachidonic acid secretion (GO:0050482)|cellular response to antibiotic (GO:0071236)|cellular response to organic cyclic compound (GO:0071407)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	calcium-dependent phospholipase A2 activity (GO:0047498)|lysophospholipase activity (GO:0004622)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		GCTGCAGGGGCAAGAGCTGTG	0.652																																																	0													45.0	44.0	44.0					15																	42442920		2203	4299	6502	SO:0001819	synonymous_variant	255189				CCDS32204.1	15q15.1	2008-09-19				ENSG00000168907	3.1.1.4		27396	protein-coding gene	gene with protein product						14702039, 15866882	Standard	NM_213600		Approved	PLA2G4F/Z	uc001zoz.3	Q68DD2		ENST00000382396.4:c.657G>A	15.37:g.42442920C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6ZMC8	Silent	SNP	pfam_LysoPLipase_cat_dom,pfam_C2_Ca-dep,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_LysoPLipase_cat_dom,pfscan_C2_membr_targeting,pfscan_LysoPLipase_cat_dom	p.L219	ENST00000382396.4	37	c.657	CCDS32204.1	15																																																																																			PLA2G4F	-	NULL		0.652	PLA2G4F-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLA2G4F	HGNC	protein_coding	OTTHUMT00000420463.1	C	NM_213600		42442920	-1	no_errors	ENST00000397272	ensembl	human	known	70_37	silent	SNP	0.593	T
PLCE1	51196	genome.wustl.edu	37	10	95849061	95849061	+	Intron	SNP	C	C	G			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr10:95849061C>G	ENST00000371380.3	+	2	1441				PLCE1_ENST00000371385.3_Missense_Mutation_p.F70L|PLCE1_ENST00000371375.1_Missense_Mutation_p.F70L|RP11-429H9.4_ENST00000438899.1_RNA|PLCE1_ENST00000260766.3_Intron			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1						activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				GTTGGCTCTTCCCGCTCTCTG	0.512																																																	0													159.0	143.0	148.0					10																	95849061		1568	3582	5150	SO:0001627	intron_variant	51196				CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.1207-42870C>G	10.37:g.95849061C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_Ras-assoc,pfam_RasGRF_CDC25,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,smart_Ras-assoc,pfscan_C2_membr_targeting,pfscan_Ras-assoc,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,pfscan_RasGRF_CDC25,prints_Pinositol_PLipase_C	p.F70L	ENST00000371380.3	37	c.210	CCDS41552.1	10	.	.	.	.	.	.	.	.	.	.	C	2.320	-0.355846	0.05138	.	.	ENSG00000138193	ENST00000371385;ENST00000371375	T;T	0.22743	1.94;1.94	5.8	1.12	0.20585	.	.	.	.	.	T	0.06781	0.0173	.	.	.	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.40251	-0.9573	8	0.02654	T	1	.	5.0137	0.14326	0.0:0.4338:0.3211:0.2451	.	70	Q9P212-2	.	L	70	ENSP00000360438:F70L;ENSP00000360426:F70L	ENSP00000360426:F70L	F	+	3	2	PLCE1	95839051	0.001000	0.12720	0.474000	0.27266	0.788000	0.44548	0.332000	0.19751	0.314000	0.23086	0.650000	0.86243	TTC	PLCE1	-	NULL		0.512	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCE1	HGNC	protein_coding	OTTHUMT00000049469.3	C	NM_016341		95849061	+1	no_errors	ENST00000371375	ensembl	human	known	70_37	missense	SNP	0.131	G
PLTP	5360	genome.wustl.edu	37	20	44536510	44536510	+	Silent	SNP	G	G	A			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr20:44536510G>A	ENST00000477313.1	-	5	1113	c.519C>T	c.(517-519)acC>acT	p.T173T	PLTP_ENST00000420868.2_Silent_p.T78T|PLTP_ENST00000372431.3_Silent_p.T173T|PLTP_ENST00000372420.1_Silent_p.T85T|PLTP_ENST00000542937.1_Silent_p.T193T|PLTP_ENST00000354050.4_Silent_p.T121T			P55058	PLTP_HUMAN	phospholipid transfer protein	173					lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|sperm motility (GO:0030317)|vitamin E biosynthetic process (GO:0010189)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	lipid binding (GO:0008289)			endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)	21		Myeloproliferative disorder(115;0.0122)				GCATCCCTGAGGTGATGAACG	0.592																																																	0													77.0	61.0	67.0					20																	44536510		2201	4299	6500	SO:0001819	synonymous_variant	5360			L26232	CCDS13386.1, CCDS13387.1, CCDS56196.1, CCDS56197.1	20q13.12	2011-08-16			ENSG00000100979	ENSG00000100979		"""BPI fold containing"""	9093	protein-coding gene	gene with protein product	"""BPI fold containing family E"""	172425					Standard	NM_006227		Approved	BPIFE	uc002xqn.2	P55058	OTTHUMG00000033047	ENST00000477313.1:c.519C>T	20.37:g.44536510G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K006|B4DDD5|B4DRB4|E1P5N8|E7EV16|Q8WTT1|Q9BR07|Q9BSH8	Silent	SNP	pfam_Lipid-bd_serum_glycop_C,pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C	p.T193	ENST00000477313.1	37	c.579	CCDS13386.1	20																																																																																			PLTP	-	pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N		0.592	PLTP-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PLTP	HGNC	protein_coding	OTTHUMT00000354633.1	G	NM_006227		44536510	-1	no_errors	ENST00000542937	ensembl	human	known	70_37	silent	SNP	0.999	A
PLXNA3	55558	genome.wustl.edu	37	X	153692561	153692561	+	Missense_Mutation	SNP	C	C	T	rs142270837	byFrequency	TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chrX:153692561C>T	ENST00000369682.3	+	8	1908	c.1733C>T	c.(1732-1734)gCg>gTg	p.A578V		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	578					axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-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)					GCCTTCGAGGCGGCGGCGGAG	0.692																																																	0									VAL/ALA	2,3827		0,2,0,1629,567	28.0	25.0	26.0		1733	2.7	0.2	X	dbSNP_134	26	9,6708		0,4,5,2422,1860	yes	missense	PLXNA3	NM_017514.3	64	0,6,5,4051,2427	TT,TC,T,CC,C		0.134,0.0522,0.1043	benign	578/1872	153692561	11,10535	2198	4291	6489	SO:0001583	missense	55558			X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"""Plexins"""	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.1733C>T	X.37:g.153692561C>T	ENSP00000358696:p.Ala578Val	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5HY36	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.A578V	ENST00000369682.3	37	c.1733	CCDS14752.1	X	.	.	.	.	.	.	.	.	.	.	C	7.922	0.738844	0.15642	5.22E-4	0.00134	ENSG00000130827	ENST00000369682	T	0.00958	5.5	5.3	2.72	0.32119	.	0.186926	0.20142	U	0.098352	T	0.00815	0.0027	N	0.22421	0.69	0.09310	N	0.999999	B	0.09022	0.002	B	0.08055	0.003	T	0.48258	-0.9051	10	0.30854	T	0.27	.	7.0985	0.25323	0.617:0.2964:0.0866:0.0	.	578	P51805	PLXA3_HUMAN	V	578	ENSP00000358696:A578V	ENSP00000358696:A578V	A	+	2	0	PLXNA3	153345755	0.962000	0.33011	0.204000	0.23530	0.003000	0.03518	2.220000	0.42908	0.658000	0.30925	-0.397000	0.06425	GCG	PLXNA3	-	NULL		0.692	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA3	HGNC	protein_coding	OTTHUMT00000081634.1	C	NM_017514		153692561	+1	no_errors	ENST00000369682	ensembl	human	known	70_37	missense	SNP	0.194	T
PNN	5411	genome.wustl.edu	37	14	39650617	39650617	+	Missense_Mutation	SNP	T	T	G			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr14:39650617T>G	ENST00000216832.4	+	9	1771	c.1704T>G	c.(1702-1704)aaT>aaG	p.N568K	PNN_ENST00000557680.1_Intron	NM_002687.3	NP_002678	Q9H307	PININ_HUMAN	pinin, desmosome associated protein	568	Ser-rich.				cell adhesion (GO:0007155)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1)	27	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)		GAGCTAGAAATAAAACAAGCA	0.448																																																	0													101.0	102.0	102.0					14																	39650617		2203	4300	6503	SO:0001583	missense	5411			U77718	CCDS9671.1	14q21.1	2010-07-02			ENSG00000100941	ENSG00000100941			9162	protein-coding gene	gene with protein product		603154				8922384	Standard	NM_002687		Approved	memA	uc001wuw.4	Q9H307	OTTHUMG00000028821	ENST00000216832.4:c.1704T>G	14.37:g.39650617T>G	ENSP00000216832:p.Asn568Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DZX8|O60899|Q53EM7|Q6P5X4|Q7KYL1|Q99738|Q9UHZ9|Q9UQR9	Missense_Mutation	SNP	pfam_Pinin_SDK_N,pfam_Pinin_SDK_MemA	p.N568K	ENST00000216832.4	37	c.1704	CCDS9671.1	14	.	.	.	.	.	.	.	.	.	.	T	11.79	1.744508	0.30865	.	.	ENSG00000100941	ENST00000216832	T	0.51325	0.71	6.16	5.04	0.67666	.	0.240771	0.49305	D	0.000146	T	0.43322	0.1242	L	0.53729	1.69	0.80722	D	1	D	0.53151	0.958	P	0.47528	0.549	T	0.45425	-0.9262	10	0.41790	T	0.15	-19.095	3.5276	0.07765	0.0:0.2969:0.0:0.7031	.	568	Q9H307	PININ_HUMAN	K	568	ENSP00000216832:N568K	ENSP00000216832:N568K	N	+	3	2	PNN	38720368	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.449000	0.44935	2.367000	0.80283	0.528000	0.53228	AAT	PNN	-	NULL		0.448	PNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PNN	HGNC	protein_coding	OTTHUMT00000276776.2	T	NM_002687		39650617	+1	no_errors	ENST00000216832	ensembl	human	known	70_37	missense	SNP	1.000	G
POMC	5443	genome.wustl.edu	37	2	25387630	25387630	+	Silent	SNP	C	C	T			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr2:25387630C>T	ENST00000405623.1	-	2	467	c.12G>A	c.(10-12)tcG>tcA	p.S4S	POMC_ENST00000395826.2_Silent_p.S4S|POMC_ENST00000380794.1_Silent_p.S4S|POMC_ENST00000264708.3_Silent_p.S4S			P01189	COLI_HUMAN	proopiomelanocortin	4					cell-cell signaling (GO:0007267)|cellular pigmentation (GO:0033059)|cellular protein metabolic process (GO:0044267)|generation of precursor metabolites and energy (GO:0006091)|glucose homeostasis (GO:0042593)|negative regulation of tumor necrosis factor production (GO:0032720)|neuropeptide signaling pathway (GO:0007218)|peptide hormone processing (GO:0016486)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of appetite (GO:0032098)|regulation of blood pressure (GO:0008217)|regulation of corticosterone secretion (GO:2000852)|regulation of glycogen metabolic process (GO:0070873)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|peroxisomal matrix (GO:0005782)|secretory granule (GO:0030141)|secretory granule lumen (GO:0034774)	G-protein coupled receptor binding (GO:0001664)|hormone activity (GO:0005179)|receptor binding (GO:0005102)|type 1 melanocortin receptor binding (GO:0070996)|type 3 melanocortin receptor binding (GO:0031781)|type 4 melanocortin receptor binding (GO:0031782)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Loperamide(DB00836)	GGCTGCAGCACGATCTCGGCA	0.607																																					Colon(110;1515 1566 8452 10082 43216)												0													37.0	40.0	39.0					2																	25387630		2201	4299	6500	SO:0001819	synonymous_variant	5443				CCDS1717.1	2p23	2013-02-25	2008-07-31		ENSG00000115138	ENSG00000115138		"""Endogenous ligands"""	9201	protein-coding gene	gene with protein product	"""adrenocorticotropin"", ""beta-lipotropin"", ""alpha-melanocyte stimulating hormone"", ""beta-melanocyte stimulating hormone"", ""beta-endorphin"", ""adrenocorticotropic hormone"", ""opiomelanocortin prepropeptide"""	176830				6254047, 9620771	Standard	NM_001035256		Approved	MSH, POC, CLIP, ACTH, NPP, LPH	uc002rfz.1	P01189	OTTHUMG00000094764	ENST00000405623.1:c.12G>A	2.37:g.25387630C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	P78442|Q53T23|Q9UD39|Q9UD40	Silent	SNP	pfam_Mcrtin_ACTH_cent,pfam_Melanocortin_N,pfam_Opioid_neuropept,prints_Mcortin_ACTH	p.S4	ENST00000405623.1	37	c.12	CCDS1717.1	2																																																																																			POMC	-	NULL		0.607	POMC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POMC	HGNC	protein_coding	OTTHUMT00000211573.3	C	NM_001035256		25387630	-1	no_errors	ENST00000264708	ensembl	human	known	70_37	silent	SNP	0.000	T
PRL	5617	genome.wustl.edu	37	6	22294638	22294638	+	Splice_Site	SNP	G	G	A			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr6:22294638G>A	ENST00000306482.1	-	2	722	c.204C>T	c.(202-204)ttC>ttT	p.F68F	RP3-404K8.2_ENST00000561912.1_RNA	NM_000948.5|NM_001163558.2	NP_000939.1|NP_001157030.1	P01236	PRL_HUMAN	prolactin	68					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|circadian rhythm (GO:0007623)|female pregnancy (GO:0007565)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|multicellular organismal response to stress (GO:0033555)|ovulation cycle (GO:0042698)|parturition (GO:0007567)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of JAK-STAT cascade (GO:0046427)|regulation of multicellular organism growth (GO:0040014)|regulation of ossification (GO:0030278)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|secretory granule (GO:0030141)	prolactin receptor binding (GO:0005148)	p.F68F(1)		NS(1)|endometrium(2)|large_intestine(6)|lung(6)|prostate(1)	16	Ovarian(93;0.163)					TGGTACTTACGAATTCGCTGA	0.527																																																	1	Substitution - coding silent(1)	large_intestine(1)											95.0	88.0	90.0					6																	22294638		2203	4300	6503	SO:0001630	splice_region_variant	5617			D00411	CCDS4548.1	6p22.3	2013-09-16			ENSG00000172179	ENSG00000172179			9445	protein-coding gene	gene with protein product		176760					Standard	NM_000948		Approved		uc003ndq.3	P01236	OTTHUMG00000016111	ENST00000306482.1:c.204+1C>T	6.37:g.22294638G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q15199|Q92996	Silent	SNP	pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin	p.F68	ENST00000306482.1	37	c.204	CCDS4548.1	6																																																																																			PRL	-	pfam_Somatotropin,superfamily_4_helix_cytokine-like_core		0.527	PRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRL	HGNC	protein_coding	OTTHUMT00000043327.1	G	NM_000948	Silent	22294638	-1	no_errors	ENST00000306482	ensembl	human	known	70_37	silent	SNP	0.997	A
PRR23B	389151	genome.wustl.edu	37	3	138739178	138739178	+	Missense_Mutation	SNP	T	T	C			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr3:138739178T>C	ENST00000329447.5	-	1	590	c.326A>G	c.(325-327)gAc>gGc	p.D109G	MRPS22_ENST00000495075.1_Intron	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN	proline rich 23B	109										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TGAGCGTTCGTCGACGGAGCT	0.637																																																	0													52.0	50.0	51.0					3																	138739178		2203	4300	6503	SO:0001583	missense	389151			BC137146	CCDS33868.1	3q22.3	2014-06-03			ENSG00000184814	ENSG00000184814			33764	protein-coding gene	gene with protein product							Standard	NM_001013650		Approved	FLJ46116	uc003esy.1	Q6ZRT6	OTTHUMG00000160633	ENST00000329447.5:c.326A>G	3.37:g.138739178T>C	ENSP00000328768:p.Asp109Gly	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RNV9	Missense_Mutation	SNP	pfam_UPF0572	p.D109G	ENST00000329447.5	37	c.326	CCDS33868.1	3	.	.	.	.	.	.	.	.	.	.	T	13.87	2.365214	0.41902	.	.	ENSG00000184814	ENST00000329447	.	.	.	2.42	-4.83	0.03161	.	.	.	.	.	T	0.47002	0.1422	L	0.60455	1.87	0.09310	N	1	D	0.65815	0.995	D	0.66602	0.945	T	0.37888	-0.9686	8	0.36615	T	0.2	.	2.8052	0.05425	0.421:0.2816:0.0:0.2974	.	109	Q6ZRT6	PR23B_HUMAN	G	109	.	ENSP00000328768:D109G	D	-	2	0	PRR23B	140221868	0.000000	0.05858	0.000000	0.03702	0.159000	0.22180	0.089000	0.15002	-1.051000	0.03226	0.260000	0.18958	GAC	PRR23B	-	pfam_UPF0572		0.637	PRR23B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRR23B	HGNC	protein_coding	OTTHUMT00000361501.1	T	NM_001013650		138739178	-1	no_errors	ENST00000329447	ensembl	human	known	70_37	missense	SNP	0.000	C
PSD	5662	genome.wustl.edu	37	10	104163067	104163067	+	Missense_Mutation	SNP	G	G	C			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr10:104163067G>C	ENST00000020673.5	-	17	3491	c.2965C>G	c.(2965-2967)Cct>Gct	p.P989A	PSD_ENST00000406432.1_Missense_Mutation_p.P989A	NM_001270966.1|NM_002779.4	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	989					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		GAGTGAGAAGGAGGGAGTCCA	0.682																																																	0													80.0	57.0	65.0					10																	104163067		2203	4300	6503	SO:0001583	missense	5662			X99688	CCDS31272.1, CCDS73187.1	10q24	2013-01-10	2004-04-28		ENSG00000059915	ENSG00000059915		"""Pleckstrin homology (PH) domain containing"""	9507	protein-coding gene	gene with protein product		602327	"""pleckstrin and Sec7 domain protein"""			9417912	Standard	NM_002779		Approved	KIAA2011, TYL, PSD1	uc009xxd.2	A5PKW4	OTTHUMG00000018954	ENST00000020673.5:c.2965C>G	10.37:g.104163067G>C	ENSP00000020673:p.Pro989Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	B1AKX7|D3DR87|Q15673|Q8IVG0	Missense_Mutation	SNP	pfam_Sec7,pfam_Pleckstrin_homology,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7,prints_PH_dom-spectrin-type	p.P989A	ENST00000020673.5	37	c.2965	CCDS31272.1	10	.	.	.	.	.	.	.	.	.	.	G	4.331	0.060736	0.08339	.	.	ENSG00000059915	ENST00000020673;ENST00000541902;ENST00000406432	T;T	0.15952	2.38;2.38	4.62	1.38	0.22167	.	0.584827	0.17526	N	0.171067	T	0.08891	0.0220	N	0.12182	0.205	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.04013	0.0;0.0;0.001	T	0.26573	-1.0099	10	0.56958	D	0.05	.	7.8635	0.29524	0.0:0.4402:0.3006:0.2593	.	989;892;610	A5PKW4;Q86YI3;A5PKW4-2	PSD1_HUMAN;.;.	A	989;892;989	ENSP00000020673:P989A;ENSP00000384830:P989A	ENSP00000020673:P989A	P	-	1	0	PSD	104153057	0.005000	0.15991	0.001000	0.08648	0.675000	0.39556	0.979000	0.29500	0.505000	0.28104	0.313000	0.20887	CCT	PSD	-	NULL		0.682	PSD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	PSD	HGNC	protein_coding	OTTHUMT00000050041.2	G			104163067	-1	no_errors	ENST00000020673	ensembl	human	known	70_37	missense	SNP	0.001	C
PSMA1	5682	genome.wustl.edu	37	11	14535160	14535160	+	Nonsense_Mutation	SNP	G	G	C			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr11:14535160G>C	ENST00000396394.2	-	7	896	c.500C>G	c.(499-501)tCa>tGa	p.S167*	PSMA1_ENST00000555531.1_Missense_Mutation_p.Q148E|PSMA1_ENST00000524606.1_5'Flank|PSMA1_ENST00000396393.1_Nonsense_Mutation_p.S167*|PSMA1_ENST00000530457.1_Nonsense_Mutation_p.S142*|PSMA1_ENST00000418988.2_Nonsense_Mutation_p.S173*|PSMA1_ENST00000419365.2_Missense_Mutation_p.Q148E	NM_002786.3	NP_002777.1	P25786	PSA1_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 1	167					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysome (GO:0005844)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|proteasome core complex, alpha-subunit complex (GO:0019773)	RNA binding (GO:0003723)|threonine-type endopeptidase activity (GO:0004298)			large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	3						AGTACGAGCTGATTGGGAACG	0.388																																																	0													67.0	68.0	68.0					11																	14535160		2200	4294	6494	SO:0001587	stop_gained	5682			X61969	CCDS7816.1, CCDS31431.1	11p15.1	2005-10-10			ENSG00000129084	ENSG00000129084		"""Proteasome (prosome, macropain) subunits"""	9530	protein-coding gene	gene with protein product		602854				1398136, 2025653	Standard	NM_148976		Approved	HC2, NU, PROS30, MGC14542, MGC14575, MGC14751, MGC1667, MGC21459, MGC22853, MGC23915	uc001mlk.3	P25786	OTTHUMG00000165825	ENST00000396394.2:c.500C>G	11.37:g.14535160G>C	ENSP00000379676:p.Ser167*	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K400|Q53YE8|Q9BRV9	Nonsense_Mutation	SNP	pfam_Proteasome_sua/b,pfam_Proteasome_asu_N,smart_Proteasome_asu_N	p.S173*	ENST00000396394.2	37	c.518	CCDS7816.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.119617|6.119617	0.97300|0.97300	.|.	.|.	ENSG00000129084|ENSG00000129084	ENST00000419365|ENST00000396394;ENST00000396393;ENST00000530457;ENST00000418988	T|.	0.46451|.	0.87|.	5.98|5.98	5.98|5.98	0.97165|0.97165	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.74084|.	0.3670|.	.|.	.|.	.|.	0.33079|0.33079	D|D	0.536333|0.536333	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.79463|.	-0.1793|.	6|.	0.87932|0.87932	D|D	0|0	-12.6208|-12.6208	20.452|20.452	0.99131|0.99131	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	E|X	148|167;167;142;173	ENSP00000392242:Q148E|.	ENSP00000392242:Q148E|ENSP00000379675:S167X	Q|S	-|-	1|2	0|0	PSMA1|PSMA1	14491736|14491736	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.571000|0.571000	0.35966|0.35966	8.928000|8.928000	0.92853|0.92853	2.838000|2.838000	0.97847|0.97847	0.591000|0.591000	0.81541|0.81541	CAG|TCA	PSMA1	-	pfam_Proteasome_sua/b		0.388	PSMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMA1	HGNC	protein_coding	OTTHUMT00000386421.3	G	NM_002786		14535160	-1	no_errors	ENST00000418988	ensembl	human	known	70_37	nonsense	SNP	1.000	C
PTP4A3	11156	genome.wustl.edu	37	8	142437923	142437923	+	Splice_Site	SNP	C	C	A			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr8:142437923C>A	ENST00000521578.1	+	5	1348	c.403C>A	c.(403-405)Cag>Aag	p.Q135K	PTP4A3_ENST00000349124.1_Intron|PTP4A3_ENST00000524028.1_Splice_Site_p.Q49K|PTP4A3_ENST00000329397.1_Splice_Site_p.Q135K|PTP4A3_ENST00000520105.1_Intron			O75365	TP4A3_HUMAN	protein tyrosine phosphatase type IVA, member 3	135	Tyrosine-protein phosphatase.				peptidyl-tyrosine dephosphorylation (GO:0035335)	endosome (GO:0005768)|plasma membrane (GO:0005886)	prenylated protein tyrosine phosphatase activity (GO:0004727)			endometrium(2)|large_intestine(1)|lung(3)	6	all_cancers(97;2.55e-15)|all_epithelial(106;1.39e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0474)			GTTCATCCGCCAGTGAGTGGC	0.672																																																	0													29.0	23.0	25.0					8																	142437923		2109	4159	6268	SO:0001630	splice_region_variant	11156			AF041434	CCDS6382.1, CCDS6383.1	8q24.3	2011-06-09				ENSG00000184489		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PRLs"""	9636	protein-coding gene	gene with protein product		606449					Standard	NM_032611		Approved	PRL-3, PRL-R, PRL3	uc003ywg.1	O75365		ENST00000521578.1:c.404+1C>A	8.37:g.142437923C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8IVN5|Q99849|Q9BTW5	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Dual-sp_phosphatase_cat-dom,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase	p.Q135K	ENST00000521578.1	37	c.403	CCDS6383.1	8	.	.	.	.	.	.	.	.	.	.	C	14.95	2.689664	0.48097	.	.	ENSG00000184489	ENST00000521578;ENST00000329397;ENST00000524028	D;D	0.82433	-1.61;-1.61	4.69	4.69	0.59074	Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);	0.062610	0.64402	D	0.000005	T	0.74566	0.3733	N	0.25957	0.775	0.80722	D	1	B	0.06786	0.001	B	0.18561	0.022	T	0.68473	-0.5399	10	0.27785	T	0.31	0.3812	16.708	0.85377	0.0:1.0:0.0:0.0	.	135	O75365	TP4A3_HUMAN	K	135;135;49	ENSP00000428976:Q135K;ENSP00000332274:Q135K	ENSP00000332274:Q135K	Q	+	1	0	PTP4A3	142507105	1.000000	0.71417	0.998000	0.56505	0.855000	0.48748	7.500000	0.81588	2.603000	0.88011	0.407000	0.27541	CAG	PTP4A3	-	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Dual-sp_phosphatase_cat-dom,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase		0.672	PTP4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTP4A3	HGNC	protein_coding	OTTHUMT00000378977.1	C	NM_032611	Missense_Mutation	142437923	+1	no_errors	ENST00000329397	ensembl	human	known	70_37	missense	SNP	1.000	A
PTPRU	10076	genome.wustl.edu	37	1	29641984	29641984	+	Missense_Mutation	SNP	C	C	G			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr1:29641984C>G	ENST00000345512.3	+	24	3487	c.3358C>G	c.(3358-3360)Ctc>Gtc	p.L1120V	PTPRU_ENST00000428026.2_Missense_Mutation_p.L1107V|PTPRU_ENST00000323874.8_Missense_Mutation_p.L1116V|PTPRU_ENST00000460170.2_Missense_Mutation_p.L1116V|PTPRU_ENST00000373779.3_Missense_Mutation_p.L1110V|PTPRU_ENST00000356870.3_Missense_Mutation_p.L1116V	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	1120	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|homotypic cell-cell adhesion (GO:0034109)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|organ regeneration (GO:0031100)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|response to glucocorticoid (GO:0051384)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		TGTGAAGACTCTCTGCTCCCG	0.567																																																	0													135.0	125.0	128.0					1																	29641984		2203	4300	6503	SO:0001583	missense	10076			U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			ENSG00000060656	ENSG00000060656		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9683	protein-coding gene	gene with protein product	"""pi R-PTP-Psi"""	602454				8700514, 9434160	Standard	NM_133178		Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	Q92729	OTTHUMG00000003699	ENST00000345512.3:c.3358C>G	1.37:g.29641984C>G	ENSP00000334941:p.Leu1120Val	Somatic		WXS	Illumina HiSeq	Phase_IV	A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	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,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.L1120V	ENST00000345512.3	37	c.3358	CCDS334.1	1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.042536	0.75732	.	.	ENSG00000060656	ENST00000345512;ENST00000373779;ENST00000356870;ENST00000323874;ENST00000428026;ENST00000460170	D;D;D;D;D;D	0.85556	-2.0;-2.0;-2.0;-2.0;-2.0;-2.0	4.66	3.73	0.42828	Protein-tyrosine phosphatase, receptor/non-receptor type (4);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.64402	D	0.000001	D	0.90803	0.7112	M	0.72479	2.2	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999	D;D;D;D;D	0.91635	0.998;0.998;0.998;0.999;0.999	D	0.90627	0.4564	9	.	.	.	.	13.5615	0.61793	0.1569:0.8431:0.0:0.0	.	1107;1116;1110;1116;1120	Q92729-3;Q92729-4;Q92729-2;E9PH42;Q92729	.;.;.;.;PTPRU_HUMAN	V	1120;1110;1116;1116;1107;1116	ENSP00000334941:L1120V;ENSP00000362884:L1110V;ENSP00000349333:L1116V;ENSP00000314987:L1116V;ENSP00000392332:L1107V;ENSP00000432906:L1116V	.	L	+	1	0	PTPRU	29514571	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.931000	0.70113	1.292000	0.44672	0.561000	0.74099	CTC	PTPRU	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt		0.567	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRU	HGNC	protein_coding	OTTHUMT00000010447.1	C			29641984	+1	no_errors	ENST00000345512	ensembl	human	known	70_37	missense	SNP	1.000	G
REG3A	5068	genome.wustl.edu	37	2	79385787	79385787	+	Missense_Mutation	SNP	G	G	A	rs77686105	byFrequency	TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr2:79385787G>A	ENST00000409839.3	-	3	221	c.185C>T	c.(184-186)aCa>aTa	p.T62I	REG3A_ENST00000393878.1_Missense_Mutation_p.T62I|AC011754.1_ENST00000415201.1_RNA|REG3A_ENST00000305165.2_Missense_Mutation_p.T62I	NM_002580.2|NM_138937.2	NP_002571.1|NP_620354.1	Q06141	REG3A_HUMAN	regenerating islet-derived 3 alpha	62	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				acute-phase response (GO:0006953)|cell proliferation (GO:0008283)|heterophilic cell-cell adhesion (GO:0007157)|multicellular organismal development (GO:0007275)|negative regulation of keratinocyte differentiation (GO:0045617)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of wound healing (GO:0090303)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)			breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						ATCTGCATCTGTCCAGGATTT	0.552																																																	0													130.0	118.0	122.0					2																	79385787		2203	4300	6503	SO:0001583	missense	5068			S51768	CCDS1965.1	2p12	2008-02-05	2005-02-11	2005-02-11	ENSG00000172016	ENSG00000172016			8601	protein-coding gene	gene with protein product		167805	"""pancreatitis-associated protein"""	PAP		8188210	Standard	NM_002580		Approved	HIP, REG-III, REG3, PBCGF, PAP1	uc002sof.2	Q06141	OTTHUMG00000130017	ENST00000409839.3:c.185C>T	2.37:g.79385787G>A	ENSP00000386630:p.Thr62Ile	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.T62I	ENST00000409839.3	37	c.185	CCDS1965.1	2	.	.	.	.	.	.	.	.	.	.	G	3.884	-0.025360	0.07589	.	.	ENSG00000172016	ENST00000409839;ENST00000393878;ENST00000305165	T;T;T	0.19806	2.12;2.12;2.12	4.02	-4.6	0.03390	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	1.733660	0.02668	N	0.108266	T	0.11239	0.0274	N	0.17764	0.52	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.16778	-1.0391	10	0.22706	T	0.39	.	3.4681	0.07557	0.425:0.0:0.2967:0.2784	.	62	Q06141	REG3A_HUMAN	I	62	ENSP00000386630:T62I;ENSP00000377456:T62I;ENSP00000304311:T62I	ENSP00000304311:T62I	T	-	2	0	REG3A	79239295	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.065000	0.03458	-0.910000	0.03847	-1.155000	0.01812	ACA	REG3A	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin		0.552	REG3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	REG3A	HGNC	protein_coding	OTTHUMT00000252290.2	G	NM_002580		79385787	-1	no_errors	ENST00000305165	ensembl	human	known	70_37	missense	SNP	0.000	A
RERG	85004	genome.wustl.edu	37	12	15262451	15262451	+	Splice_Site	SNP	C	C	T			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr12:15262451C>T	ENST00000256953.2	-	5	529	c.193G>A	c.(193-195)Gaa>Aaa	p.E65K	RERG-IT1_ENST00000539734.1_RNA|RERG_ENST00000546331.1_Splice_Site_p.E46K|RERG_ENST00000538313.1_Splice_Site_p.E65K|RERG_ENST00000536465.1_Splice_Site_p.E65K	NM_032918.2	NP_116307.1	Q96A58	RERG_HUMAN	RAS-like, estrogen-regulated, growth inhibitor	65					negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|response to hormone (GO:0009725)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	estrogen receptor binding (GO:0030331)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						ATGGTATCTTCCTGTTGGCAA	0.443																																																	0													189.0	202.0	197.0					12																	15262451		2203	4300	6503	SO:0001630	splice_region_variant	85004			AF339750	CCDS8673.1, CCDS53753.1	12p13.1	2014-05-09			ENSG00000134533	ENSG00000134533			15980	protein-coding gene	gene with protein product		612664				11533059	Standard	NM_032918		Approved	MGC15754	uc001rct.3	Q96A58	OTTHUMG00000168745	ENST00000256953.2:c.193-1G>A	12.37:g.15262451C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R9R0|B4DI02	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.E65K	ENST00000256953.2	37	c.193	CCDS8673.1	12	.	.	.	.	.	.	.	.	.	.	C	23.1	4.375927	0.82682	.	.	ENSG00000134533	ENST00000256953;ENST00000538313;ENST00000536465;ENST00000546331;ENST00000545567	D;D;D;D;D	0.83992	-1.79;-1.79;-1.79;-1.79;-1.79	5.01	5.01	0.66863	Small GTP-binding protein domain (1);	0.046236	0.85682	D	0.000000	D	0.92825	0.7718	M	0.93197	3.39	0.80722	D	1	D;D	0.59357	0.985;0.97	P;P	0.62813	0.907;0.877	D	0.94618	0.7810	10	0.87932	D	0	.	17.2457	0.87027	0.0:1.0:0.0:0.0	.	46;65	B4DI02;Q96A58	.;RERG_HUMAN	K	65;65;65;46;78	ENSP00000256953:E65K;ENSP00000441505:E65K;ENSP00000438280:E65K;ENSP00000444485:E46K;ENSP00000439532:E78K	ENSP00000256953:E65K	E	-	1	0	RERG	15153718	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.771000	0.85420	2.489000	0.83994	0.655000	0.94253	GAA	RERG	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.443	RERG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RERG	HGNC	protein_coding	OTTHUMT00000400882.1	C	NM_032918	Missense_Mutation	15262451	-1	no_errors	ENST00000256953	ensembl	human	known	70_37	missense	SNP	1.000	T
RNF126P1	376412	genome.wustl.edu	37	17	55123418	55123418	+	RNA	SNP	G	G	A			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr17:55123418G>A	ENST00000567452.1	+	0	580					NR_002818.2				ring finger protein 126 pseudogene 1																		GATTACGCCTGAGTGGCCAAC	0.602																																																	0																																												376412			BC033555		17q23.2	2004-04-22				ENSG00000261192		"""RING-type (C3HC4) zinc fingers"""	30340	pseudogene	pseudogene						12477932	Standard	NR_002818		Approved		uc002iuw.3				17.37:g.55123418G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000567452.1	37	NULL		17																																																																																			RNF126P1	-	-		0.602	RNF126P1-002	KNOWN	basic	processed_transcript	RNF126P1	HGNC	pseudogene	OTTHUMT00000431453.1	G			55123418	+1	no_errors	ENST00000567452	ensembl	human	known	70_37	rna	SNP	1.000	A
ROBO2	6092	genome.wustl.edu	37	3	77611801	77611801	+	Splice_Site	SNP	G	G	C			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr3:77611801G>C	ENST00000461745.1	+	10	2337		c.e10-1		ROBO2_ENST00000487694.3_Splice_Site|ROBO2_ENST00000332191.8_Splice_Site	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)						apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		GTGCACACTAGATTTCTGATA	0.383																																																	0													101.0	96.0	98.0					3																	77611801		1888	4127	6015	SO:0001630	splice_region_variant	6092			AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10250	protein-coding gene	gene with protein product		602431	"""roundabout (axon guidance receptor, Drosophila) homolog 2"""			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.1438-1G>C	3.37:g.77611801G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	O43608|Q19AB4|Q19AB5	Splice_Site	SNP	-	e10-1	ENST00000461745.1	37	c.1438-1	CCDS43109.1	3	.	.	.	.	.	.	.	.	.	.	G	14.23	2.474047	0.43942	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191;ENST00000398467	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3626	0.98863	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ROBO2	77694491	1.000000	0.71417	0.954000	0.39281	0.053000	0.15095	9.781000	0.99029	2.885000	0.99019	0.655000	0.94253	.	ROBO2	-	-		0.383	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ROBO2	HGNC	protein_coding	OTTHUMT00000352600.2	G	XM_031246	Intron	77611801	+1	no_errors	ENST00000461745	ensembl	human	known	70_37	splice_site	SNP	1.000	C
SCML1	6322	genome.wustl.edu	37	X	17768235	17768235	+	Silent	SNP	C	C	T			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chrX:17768235C>T	ENST00000380041.3	+	6	853	c.525C>T	c.(523-525)ctC>ctT	p.L175L	SCML1_ENST00000380043.3_Silent_p.L148L|SCML1_ENST00000380045.3_Silent_p.L54L|SCML1_ENST00000398080.1_Silent_p.L54L	NM_001037540.1	NP_001032629.1	Q9UN30	SCML1_HUMAN	sex comb on midleg-like 1 (Drosophila)	175					anatomical structure morphogenesis (GO:0009653)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)	10	Hepatocellular(33;0.183)					ACCCGATCCTCAGCCGCACTC	0.522																																																	0													115.0	102.0	106.0					X																	17768235		2203	4300	6503	SO:0001819	synonymous_variant	6322				CCDS14182.2, CCDS35210.1, CCDS35211.1	Xp22	2013-01-10	2001-11-28		ENSG00000047634	ENSG00000047634		"""Sterile alpha motif (SAM) domain containing"""	10580	protein-coding gene	gene with protein product		300227	"""sex comb on midleg (Drosophila)-like 1"""			9570953	Standard	XM_005274578		Approved		uc004cyc.3	Q9UN30	OTTHUMG00000021206	ENST00000380041.3:c.525C>T	X.37:g.17768235C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B0FZN6|B2RA08|Q5H968|Q5H969	Silent	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.L175	ENST00000380041.3	37	c.525	CCDS35210.1	X																																																																																			SCML1	-	NULL		0.522	SCML1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCML1	HGNC	protein_coding	OTTHUMT00000060495.5	C	NM_006746		17768235	+1	no_errors	ENST00000380041	ensembl	human	known	70_37	silent	SNP	0.000	T
SELL	6402	genome.wustl.edu	37	1	169677817	169677817	+	Silent	SNP	C	C	T			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr1:169677817C>T	ENST00000236147.4	-	3	412	c.252G>A	c.(250-252)gcG>gcA	p.A84A	C1orf112_ENST00000498289.1_Intron|SELL_ENST00000463108.1_5'UTR	NM_000655.4	NP_000646.2	P14151	LYAM1_HUMAN	selectin L	71	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)|regulation of immune response (GO:0050776)|response to ATP (GO:0033198)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|protease binding (GO:0002020)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	15	all_hematologic(923;0.208)					ACTCAATTTCCGCCTTGTTTT	0.443																																																	0													69.0	61.0	64.0					1																	169677817		1868	4107	5975	SO:0001819	synonymous_variant	6402			M25280	CCDS53427.1	1q23-q25	2008-07-31	2008-07-31		ENSG00000188404	ENSG00000188404		"""CD molecules"""	10720	protein-coding gene	gene with protein product		153240	"""lymphocyte adhesion molecule 1"""	LYAM1, LNHR		2664786, 1375831	Standard	NR_029467		Approved	LSEL, LAM1, LAM-1, hLHRc, Leu-8, Lyam-1, PLNHR, CD62L	uc001ggk.3	P14151	OTTHUMG00000034809	ENST00000236147.4:c.252G>A	1.37:g.169677817C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R6Q8|P15023|Q9UJ43	Silent	SNP	pfam_C-type_lectin,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_C-type_lectin,smart_EG-like_dom,smart_Sushi_SCR_CCP,pirsf_L-selectin,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Sushi_SCR_CCP,prints_Selectin_superfamily	p.A84	ENST00000236147.4	37	c.252	CCDS53427.1	1																																																																																			SELL	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pirsf_L-selectin,pfscan_C-type_lectin		0.443	SELL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SELL	HGNC	protein_coding	OTTHUMT00000084233.1	C	NM_000655		169677817	-1	no_errors	ENST00000236147	ensembl	human	known	70_37	silent	SNP	0.071	T
SFSWAP	6433	genome.wustl.edu	37	12	132211567	132211567	+	Silent	SNP	G	G	A			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr12:132211567G>A	ENST00000261674.4	+	6	1056	c.915G>A	c.(913-915)aaG>aaA	p.K305K	SFSWAP_ENST00000541286.1_Silent_p.K305K	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN	splicing factor, suppressor of white-apricot family	305					mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						TTGCCTCCAAGAAGTGTAACC	0.368																																																	0													127.0	121.0	123.0					12																	132211567		2203	4300	6503	SO:0001819	synonymous_variant	6433			U08377	CCDS9273.1, CCDS58290.1	12q24.33	2014-04-14	2014-04-14	2010-09-15	ENSG00000061936	ENSG00000061936			10790	protein-coding gene	gene with protein product		601945	"""splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot, Drosophila homolog)"", ""splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot homolog, Drosophila)"", ""splicing factor, suppressor of white-apricot homolog (Drosophila)"""	SFRS8		8940107	Standard	NM_004592		Approved	SWAP	uc010tbn.2	Q12872	OTTHUMG00000168319	ENST00000261674.4:c.915G>A	12.37:g.132211567G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RN45|B7ZM97|F5H6B8|Q6PJF7	Silent	SNP	pfam_SWAP_N_domain,pfam_Surp,superfamily_Surp,smart_Surp,pfscan_Surp	p.K305	ENST00000261674.4	37	c.915	CCDS9273.1	12																																																																																			SFSWAP	-	NULL		0.368	SFSWAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SFSWAP	HGNC	protein_coding	OTTHUMT00000399276.1	G	NM_004592		132211567	+1	no_errors	ENST00000261674	ensembl	human	known	70_37	silent	SNP	1.000	A
SFTPA2	729238	genome.wustl.edu	37	10	81317074	81317074	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr10:81317074C>T	ENST00000372325.2	-	6	722	c.638G>A	c.(637-639)cGa>cAa	p.R213Q	SFTPA2_ENST00000372327.5_Missense_Mutation_p.R213Q	NM_001098668.2	NP_001092138.1	Q8IWL1	SFPA2_HUMAN	surfactant protein A2	213	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				respiratory gaseous exchange (GO:0007585)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)	p.R213L(1)		endometrium(1)|kidney(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			AGGCTCCCCTCGGTACCAGTT	0.547									Pulmonary Fibrosis, Idiopathic																																								1	Substitution - Missense(1)	lung(1)											240.0	232.0	235.0					10																	81317074		2203	4296	6499	SO:0001583	missense	729238	Familial Cancer Database	Hamman-Rich syndrome, Fibrocystic Pulmonary Dysplasia		CCDS41540.1	10q22.3	2012-11-02	2008-08-26			ENSG00000185303		"""Collectins"""	10799	protein-coding gene	gene with protein product	"""surfactant, pulmonary-associated protein A2A"""	178642	"""surfactant, pulmonary-associated protein A2"""				Standard	NM_001098668		Approved	SP-A2, COLEC5	uc001kal.4	Q8IWL1		ENST00000372325.2:c.638G>A	10.37:g.81317074C>T	ENSP00000361400:p.Arg213Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A4QPA7|B2RXI6|B2RXK9|C9J9I7|E3VLC6|E3VLC7|E3VLC8|E3VLC9|P07714|Q14DV3|Q5RIR8|Q5RIR9	Missense_Mutation	SNP	pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.R213Q	ENST00000372325.2	37	c.638	CCDS41540.1	10	.	.	.	.	.	.	.	.	.	.	N	4.051	0.007203	0.07866	.	.	ENSG00000185303	ENST00000372325;ENST00000537207;ENST00000372327	T;T	0.57907	0.37;0.37	2.81	0.511	0.16989	.	0.642320	0.15310	N	0.269134	T	0.20333	0.0489	N	0.02403	-0.565	0.19575	N	0.999962	B	0.12013	0.005	B	0.11329	0.006	T	0.20107	-1.0285	10	0.17369	T	0.5	0.0426	4.8116	0.13345	0.0:0.2054:0.4016:0.393	.	213	E3VLC8	.	Q	213;179;213	ENSP00000361400:R213Q;ENSP00000361402:R213Q	ENSP00000361400:R213Q	R	-	2	0	SFTPA2	80987080	0.000000	0.05858	0.998000	0.56505	0.181000	0.23173	-1.493000	0.02298	0.290000	0.22444	-0.544000	0.04233	CGA	SFTPA2	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin		0.547	SFTPA2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SFTPA2	HGNC	protein_coding	OTTHUMT00000048961.1	C	NM_001098668		81317074	-1	no_errors	ENST00000372325	ensembl	human	known	70_37	missense	SNP	0.994	T
SIGLEC8	27181	genome.wustl.edu	37	19	51957937	51957937	+	Splice_Site	SNP	C	C	T			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr19:51957937C>T	ENST00000321424.3	-	5	1215		c.e5+1		SIGLEC8_ENST00000597352.1_5'Flank|SIGLEC8_ENST00000340550.5_Splice_Site|SIGLEC8_ENST00000430817.1_Splice_Site	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8						cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TCAATGCTCACATGATGAAGA	0.602																																																	0													118.0	111.0	113.0					19																	51957937		2203	4300	6503	SO:0001630	splice_region_variant	27181			AF195092	CCDS33086.1	19q13.33-q13.41	2013-01-29			ENSG00000105366	ENSG00000105366		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10877	protein-coding gene	gene with protein product		605639				10625619	Standard	XR_243922		Approved	SIGLEC-8, SAF2, SIGLEC8L, MGC59785	uc002pwt.3	Q9NYZ4		ENST00000321424.3:c.1148+1G>A	19.37:g.51957937C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q7Z728	Splice_Site	SNP	-	e5+1	ENST00000321424.3	37	c.1148+1	CCDS33086.1	19	.	.	.	.	.	.	.	.	.	.	C	8.102	0.776944	0.16120	.	.	ENSG00000105366	ENST00000430817;ENST00000321424;ENST00000340550	.	.	.	2.31	2.31	0.28768	.	.	.	.	.	.	.	.	.	.	.	0.39149	D	0.962189	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.1601	0.31194	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SIGLEC8	56649749	0.323000	0.24643	0.038000	0.18304	0.066000	0.16364	1.912000	0.39946	1.306000	0.44926	0.393000	0.25936	.	SIGLEC8	-	-		0.602	SIGLEC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SIGLEC8	HGNC	protein_coding	OTTHUMT00000463648.2	C	NM_014442	Intron	51957937	-1	no_errors	ENST00000321424	ensembl	human	known	70_37	splice_site	SNP	0.177	T
SLC13A2	9058	genome.wustl.edu	37	17	26820598	26820598	+	Silent	SNP	G	G	A			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr17:26820598G>A	ENST00000314669.5	+	7	1308	c.888G>A	c.(886-888)aaG>aaA	p.K296K	SLC13A2_ENST00000444914.3_Silent_p.K345K|SLC13A2_ENST00000545060.1_Silent_p.K253K|SLC13A2_ENST00000537681.1_Silent_p.K225K	NM_003984.3	NP_003975.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	296					dicarboxylic acid transport (GO:0006835)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	low-affinity sodium:dicarboxylate symporter activity (GO:0015361)	p.K296N(2)|p.K345N(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	GCTTCCGGAAGAACTTTGGCA	0.617																																																	3	Substitution - Missense(3)	lung(2)|large_intestine(1)											37.0	35.0	36.0					17																	26820598		2203	4300	6503	SO:0001819	synonymous_variant	9058			U26209	CCDS11231.1, CCDS54098.1	17p13.2	2013-05-22			ENSG00000007216	ENSG00000007216		"""Solute carriers"""	10917	protein-coding gene	gene with protein product		604148				8967342, 10343111	Standard	NM_001145975		Approved	NaDC-1	uc010wan.2	Q13183	OTTHUMG00000132523	ENST00000314669.5:c.888G>A	17.37:g.26820598G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RBI9|B4DPL1|E7ETH5|Q4VAR7	Silent	SNP	pfam_Na/sul_symport,pfam_Cit_transptr-like_dom	p.K345	ENST00000314669.5	37	c.1035	CCDS11231.1	17																																																																																			SLC13A2	-	pfam_Na/sul_symport		0.617	SLC13A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC13A2	HGNC	protein_coding	OTTHUMT00000255722.1	G	NM_003984		26820598	+1	no_errors	ENST00000444914	ensembl	human	known	70_37	silent	SNP	1.000	A
SLC16A14	151473	genome.wustl.edu	37	2	230902230	230902230	+	Missense_Mutation	SNP	T	T	C			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr2:230902230T>C	ENST00000295190.4	-	5	1857	c.1399A>G	c.(1399-1401)Acg>Gcg	p.T467A		NM_152527.4	NP_689740.2	Q7RTX9	MOT14_HUMAN	solute carrier family 16, member 14	467						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		TATTTTTGCGTGATGTCATAG	0.338																																																	0													88.0	87.0	87.0					2																	230902230		2203	4299	6502	SO:0001583	missense	151473			BN000146	CCDS2473.1	2q37.1	2013-07-18	2013-07-18		ENSG00000163053	ENSG00000163053		"""Solute carriers"""	26417	protein-coding gene	gene with protein product	"""monocarboxylic acid transporter 14"""		"""solute carrier family 16 (monocarboxylic acid transporters), member 14"""				Standard	NM_152527		Approved	FLJ30794, MCT14	uc002vqd.2	Q7RTX9	OTTHUMG00000133205	ENST00000295190.4:c.1399A>G	2.37:g.230902230T>C	ENSP00000295190:p.Thr467Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	A8KA08|Q53R92|Q96NI7	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.T467A	ENST00000295190.4	37	c.1399	CCDS2473.1	2	.	.	.	.	.	.	.	.	.	.	T	22.0	4.232030	0.79688	.	.	ENSG00000163053	ENST00000295190	D	0.81499	-1.5	5.49	5.49	0.81192	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.64402	D	0.000007	D	0.88811	0.6538	M	0.78456	2.415	0.51482	D	0.999929	D	0.57899	0.981	D	0.64237	0.923	D	0.89858	0.4014	10	0.62326	D	0.03	.	15.7623	0.78096	0.0:0.0:0.0:1.0	.	467	Q7RTX9	MOT14_HUMAN	A	467	ENSP00000295190:T467A	ENSP00000295190:T467A	T	-	1	0	SLC16A14	230610474	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.311000	0.59147	2.311000	0.77944	0.533000	0.62120	ACG	SLC16A14	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.338	SLC16A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC16A14	HGNC	protein_coding	OTTHUMT00000256918.2	T	NM_152527		230902230	-1	no_errors	ENST00000295190	ensembl	human	known	70_37	missense	SNP	1.000	C
SLC22A25	387601	genome.wustl.edu	37	11	62933611	62933611	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr11:62933611G>A	ENST00000306494.6	-	7	1189	c.1190C>T	c.(1189-1191)cCt>cTt	p.P397L	SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000525620.1_Intron	NM_199352.3	NP_955384.3			solute carrier family 22, member 25											NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						CAGTGCCCAAGGTGCAACACA	0.507																																																	0													141.0	114.0	123.0					11																	62933611		2201	4298	6499	SO:0001583	missense	387601			AY437532	CCDS31592.1	11q12.3	2014-05-20			ENSG00000196600	ENSG00000196600		"""Solute carriers"""	32935	protein-coding gene	gene with protein product		610792	"""MGI:2442751, MGI:2385316, MGI:3042283, MGI:3645714, MGI:3605624, MGI:2442750"""			17714910	Standard	NM_199352		Approved	UST6, HIMTP, MGC120420	uc001nwr.1	Q6T423	OTTHUMG00000165340	ENST00000306494.6:c.1190C>T	11.37:g.62933611G>A	ENSP00000307443:p.Pro397Leu	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.P397L	ENST00000306494.6	37	c.1190	CCDS31592.1	11	.	.	.	.	.	.	.	.	.	.	G	0.018	-1.486789	0.01018	.	.	ENSG00000196600	ENST00000306494	T	0.57595	0.39	4.66	2.25	0.28309	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.989663	0.08225	N	0.978496	T	0.16041	0.0386	N	0.00602	-1.34	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.32052	-0.9921	10	0.02654	T	1	.	3.4442	0.07474	0.6795:0.0:0.115:0.2055	.	397	Q6T423	S22AP_HUMAN	L	397	ENSP00000307443:P397L	ENSP00000307443:P397L	P	-	2	0	SLC22A25	62690187	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.325000	0.19628	0.153000	0.19213	-0.495000	0.04643	CCT	SLC22A25	-	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.507	SLC22A25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A25	HGNC	protein_coding	OTTHUMT00000383519.3	G	NM_199352		62933611	-1	no_errors	ENST00000306494	ensembl	human	known	70_37	missense	SNP	0.000	A
SLC25A24	29957	genome.wustl.edu	37	1	108735196	108735196	+	Intron	SNP	C	C	A	rs150343087	byFrequency	TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr1:108735196C>A	ENST00000565488.1	-	2	403				SLC25A24_ENST00000370041.4_Missense_Mutation_p.K16N	NM_013386.4	NP_037518.3	Q6NUK1	SCMC1_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24						ATP transport (GO:0015867)|cellular response to calcium ion (GO:0071277)|cellular response to oxidative stress (GO:0034599)|mitochondrial transport (GO:0006839)|regulation of cell death (GO:0010941)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP transmembrane transporter activity (GO:0005347)|calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;3.72e-05)|all_lung(203;0.000567)|Lung NSC(277;0.0011)|Melanoma(281;0.211)		Colorectal(144;0.0345)|Lung(183;0.0971)|COAD - Colon adenocarcinoma(174;0.127)|Epithelial(280;0.134)		AGGTCCCATCCTTGTTATAGT	0.562																																																	0													233.0	217.0	223.0					1																	108735196		2182	4133	6315	SO:0001627	intron_variant	29957			AJ619961	CCDS786.1, CCDS41361.1	1p13.2	2013-05-22			ENSG00000085491	ENSG00000085491		"""Solute carriers"", ""EF-hand domain containing"""	20662	protein-coding gene	gene with protein product		608744				15123600	Standard	NM_013386		Approved	DKFZp586G0123, APC1	uc001dvn.5	Q6NUK1	OTTHUMG00000011013	ENST00000565488.1:c.184-6620G>T	1.37:g.108735196C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZAI9|Q5T331|Q5T485|Q6PJJ9|Q705K4|Q9P129	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,pfam_EF-hand,superfamily_Mt_carrier_dom,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Graves_DC	p.K16N	ENST00000565488.1	37	c.48	CCDS41361.1	1	.	.	.	.	.	.	.	.	.	.	C	4.066	0.010017	0.07912	.	.	ENSG00000085491	ENST00000370041	T	0.70399	-0.48	3.48	-6.96	0.01622	.	.	.	.	.	T	0.19046	0.0457	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.08106	-1.0738	8	0.18276	T	0.48	.	2.8286	0.05492	0.1357:0.4097:0.2752:0.1793	.	16	Q6NUK1-2	.	N	16	ENSP00000359058:K16N	ENSP00000359058:K16N	K	-	3	2	SLC25A24	108536719	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.700000	0.01905	-1.779000	0.01280	-0.339000	0.08088	AAG	SLC25A24	-	smart_EF_hand_Ca-bd		0.562	SLC25A24-001	KNOWN	basic|CCDS	protein_coding	SLC25A24	HGNC	protein_coding	OTTHUMT00000030280.2	C	NM_013386		108735196	-1	no_errors	ENST00000370041	ensembl	human	known	70_37	missense	SNP	0.000	A
SOAT2	8435	genome.wustl.edu	37	12	53509917	53509917	+	Missense_Mutation	SNP	G	G	A	rs141707834		TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr12:53509917G>A	ENST00000301466.3	+	7	805	c.745G>A	c.(745-747)Gag>Aag	p.E249K		NM_003578.3	NP_003569.1	O75908	SOAT2_HUMAN	sterol O-acyltransferase 2	249					cholesterol efflux (GO:0033344)|cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|intestinal cholesterol absorption (GO:0030299)|macrophage derived foam cell differentiation (GO:0010742)|very-low-density lipoprotein particle assembly (GO:0034379)	brush border (GO:0005903)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	cholesterol binding (GO:0015485)|cholesterol O-acyltransferase activity (GO:0034736)|fatty-acyl-CoA binding (GO:0000062)|transferase activity, transferring acyl groups (GO:0016746)			endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	18					Hesperetin(DB01094)	CTTCCTGAGAGAGGCTGTGCC	0.532																																																	0								G	LYS/GLU	0,4406		0,0,2203	160.0	141.0	148.0		745	5.0	1.0	12	dbSNP_134	148	1,8599	1.2+/-3.3	0,1,4299	no	missense	SOAT2	NM_003578.3	56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	249/523	53509917	1,13005	2203	4300	6503	SO:0001583	missense	8435			AF059203	CCDS8847.1	12q13.13	2012-09-20			ENSG00000167780	ENSG00000167780	2.3.1.26		11178	protein-coding gene	gene with protein product		601311				9756920	Standard	NM_003578		Approved	ACAT2	uc001sbv.3	O75908	OTTHUMG00000169774	ENST00000301466.3:c.745G>A	12.37:g.53509917G>A	ENSP00000301466:p.Glu249Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	F5H7W4|I6L9H9|Q4VB99|Q4VBA1|Q96TD4|Q9UNR2	Missense_Mutation	SNP	pfam_MBOAT_fam	p.E249K	ENST00000301466.3	37	c.745	CCDS8847.1	12	.	.	.	.	.	.	.	.	.	.	G	36	5.709377	0.96821	0.0	1.16E-4	ENSG00000167780	ENST00000301466	T	0.16196	2.36	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	T	0.46795	0.1411	M	0.82193	2.58	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.46247	-0.9205	10	0.49607	T	0.09	-24.287	17.8548	0.88759	0.0:0.0:1.0:0.0	.	249	O75908	SOAT2_HUMAN	K	249	ENSP00000301466:E249K	ENSP00000301466:E249K	E	+	1	0	SOAT2	51796184	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	8.889000	0.92470	2.682000	0.91365	0.655000	0.94253	GAG	SOAT2	-	pfam_MBOAT_fam		0.532	SOAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOAT2	HGNC	protein_coding	OTTHUMT00000405817.1	G			53509917	+1	no_errors	ENST00000301466	ensembl	human	known	70_37	missense	SNP	1.000	A
SOD1	6647	genome.wustl.edu	37	21	33032016	33032016	+	5'UTR	SNP	C	C	G			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr21:33032016C>G	ENST00000270142.6	+	0	82				AP000253.1_ENST00000449339.1_lincRNA|SOD1_ENST00000389995.4_5'UTR	NM_000454.4	NP_000445.1	P00441	SODC_HUMAN	superoxide dismutase 1, soluble						activation of MAPK activity (GO:0000187)|anterograde axon cargo transport (GO:0008089)|auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell death (GO:0008219)|cellular iron ion homeostasis (GO:0006879)|embryo implantation (GO:0007566)|glutathione metabolic process (GO:0006749)|heart contraction (GO:0060047)|hydrogen peroxide biosynthetic process (GO:0050665)|locomotory behavior (GO:0007626)|muscle cell cellular homeostasis (GO:0046716)|myeloid cell homeostasis (GO:0002262)|negative regulation of cholesterol biosynthetic process (GO:0045541)|negative regulation of neuron apoptotic process (GO:0043524)|neurofilament cytoskeleton organization (GO:0060052)|ovarian follicle development (GO:0001541)|peripheral nervous system myelin maintenance (GO:0032287)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|positive regulation of cytokine production (GO:0001819)|positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902177)|positive regulation of superoxide anion generation (GO:0032930)|reactive oxygen species metabolic process (GO:0072593)|regulation of blood pressure (GO:0008217)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of multicellular organism growth (GO:0040014)|regulation of organ growth (GO:0046620)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of T cell differentiation in thymus (GO:0033081)|relaxation of vascular smooth muscle (GO:0060087)|removal of superoxide radicals (GO:0019430)|response to amphetamine (GO:0001975)|response to axon injury (GO:0048678)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to heat (GO:0009408)|response to hydrogen peroxide (GO:0042542)|response to nutrient levels (GO:0031667)|response to organic substance (GO:0010033)|response to superoxide (GO:0000303)|retina homeostasis (GO:0001895)|retrograde axon cargo transport (GO:0008090)|sensory perception of sound (GO:0007605)|spermatogenesis (GO:0007283)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)|thymus development (GO:0048538)|transmission of nerve impulse (GO:0019226)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrial intermembrane space (GO:0005758)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|peroxisome (GO:0005777)|protein complex (GO:0043234)	chaperone binding (GO:0051087)|copper ion binding (GO:0005507)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein phosphatase 2B binding (GO:0030346)|Rac GTPase binding (GO:0048365)|superoxide dismutase activity (GO:0004784)|zinc ion binding (GO:0008270)			NS(1)|endometrium(2)|kidney(1)	4					Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)|Vitamin E(DB00163)	GCGTCGTAGTCTCCTGCAGCG	0.647																																																	0																																										SO:0001623	5_prime_UTR_variant	6647			AY049787, X02317	CCDS33536.1	21q22.11	2014-09-17	2008-07-31		ENSG00000142168	ENSG00000142168	1.15.1.1		11179	protein-coding gene	gene with protein product		147450	"""amyotrophic lateral sclerosis 1 (adult)"""	ALS, ALS1		8446170	Standard	NM_000454		Approved	IPOA	uc002ypa.3	P00441	OTTHUMG00000084878	ENST00000270142.6:c.-67C>G	21.37:g.33032016C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NHJ0|D3DSE4|Q16669|Q16711|Q16838|Q16839|Q16840|Q6NR85	RNA	SNP	-	NULL	ENST00000270142.6	37	NULL	CCDS33536.1	21																																																																																			SOD1	-	-		0.647	SOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOD1	HGNC	protein_coding	OTTHUMT00000192585.2	C	NM_000454		33032016	+1	no_errors	ENST00000476106	ensembl	human	known	70_37	rna	SNP	0.000	G
SP100	6672	genome.wustl.edu	37	2	231380185	231380185	+	Missense_Mutation	SNP	A	A	G			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr2:231380185A>G	ENST00000264052.5	+	25	2825	c.2470A>G	c.(2470-2472)Aag>Gag	p.K824E	SP100_ENST00000340126.4_Intron	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	824					cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cellular component movement (GO:0051271)|negative regulation of DNA binding (GO:0043392)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of Fas signaling pathway (GO:1902044)|response to cytokine (GO:0034097)|response to interferon-gamma (GO:0034341)|response to retinoic acid (GO:0032526)|response to type I interferon (GO:0034340)|retinoic acid receptor signaling pathway (GO:0048384)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		gaaggctgcaaagctgaagga	0.413																																																	0													30.0	31.0	30.0					2																	231380185		2203	4300	6503	SO:0001583	missense	6672			AF056322	CCDS2477.1, CCDS42832.1, CCDS56170.1, CCDS56171.1, CCDS56172.1, CCDS56173.1	2q37.1	2013-01-28	2005-11-30		ENSG00000067066	ENSG00000067066		"""Zinc fingers, PHD-type"""	11206	protein-coding gene	gene with protein product		604585	"""nuclear antigen Sp100"""			2258622, 8695863	Standard	NM_001080391		Approved		uc002vqu.1	P23497	OTTHUMG00000133203	ENST00000264052.5:c.2470A>G	2.37:g.231380185A>G	ENSP00000264052:p.Lys824Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DDX5|B8ZZD8|E7EUA7|E9PH61|F8WFE2|O75450|Q13343|Q8TE34|Q96F70|Q96T24|Q96T95|Q9NP33|Q9UE32	Missense_Mutation	SNP	pfam_Sp100,pfam_SAND_dom,pfam_HMG_superfamily,superfamily_SAND_dom-like,superfamily_HMG_superfamily,smart_SAND_dom,smart_HMG_superfamily,pfscan_SAND_dom,pfscan_HMG_superfamily	p.K824E	ENST00000264052.5	37	c.2470	CCDS2477.1	2	.	.	.	.	.	.	.	.	.	.	A	13.22	2.171619	0.38315	.	.	ENSG00000067066	ENST00000264052	D	0.98044	-4.68	0.158	0.158	0.14942	High mobility group, HMG1/HMG2, subgroup (1);High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	.	.	.	.	D	0.96738	0.8935	L	0.42744	1.35	0.80722	D	1	P	0.38617	0.64	P	0.56216	0.794	D	0.93819	0.7117	9	0.87932	D	0	.	4.6578	0.12626	0.9996:0.0:4.0E-4:0.0	.	824	P23497	SP100_HUMAN	E	824	ENSP00000264052:K824E	ENSP00000264052:K824E	K	+	1	0	SP100	231088429	1.000000	0.71417	0.043000	0.18650	0.043000	0.13939	6.207000	0.72159	0.175000	0.19841	0.172000	0.16884	AAG	SP100	-	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily		0.413	SP100-001	KNOWN	basic|CCDS	protein_coding	SP100	HGNC	protein_coding	OTTHUMT00000256914.2	A	NM_003113		231380185	+1	no_errors	ENST00000264052	ensembl	human	known	70_37	missense	SNP	1.000	G
STK32A	202374	genome.wustl.edu	37	5	146722798	146722798	+	Intron	SNP	T	T	A			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr5:146722798T>A	ENST00000397936.3	+	6	805				STK32A_ENST00000398521.3_Silent_p.L163L|STK32A_ENST00000541094.1_Intron|STK32A_ENST00000398523.3_Intron	NM_001112724.1	NP_001106195.1	Q8WU08	ST32A_HUMAN	serine/threonine kinase 32A								ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			aatacacccttaaatcacatt	0.318																																																	0													75.0	79.0	78.0					5																	146722798		875	1991	2866	SO:0001627	intron_variant	202374				CCDS47299.1, CCDS75351.1	5q32	2008-02-05			ENSG00000169302	ENSG00000169302			28317	protein-coding gene	gene with protein product						12477932	Standard	NM_001112724		Approved	MGC22688, YANK1	uc010jgn.1	Q8WU08	OTTHUMG00000163411	ENST00000397936.3:c.472+192T>A	5.37:g.146722798T>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KSY0	Silent	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,pfscan_Prot_kinase_cat_dom	p.L163	ENST00000397936.3	37	c.489	CCDS47299.1	5																																																																																			STK32A	-	smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.318	STK32A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	STK32A	HGNC	protein_coding	OTTHUMT00000373306.1	T	NM_145001		146722798	+1	no_errors	ENST00000398521	ensembl	human	known	70_37	silent	SNP	0.009	A
STX6	10228	genome.wustl.edu	37	1	180942781	180942781	+	3'UTR	SNP	C	C	T			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr1:180942781C>T	ENST00000258301.5	-	0	3930				STX6_ENST00000469135.1_5'UTR|RP11-46A10.5_ENST00000358073.2_RNA|AL162431.1_ENST00000457152.2_Intron	NM_005819.4	NP_005810.1	O43752	STX6_HUMAN	syntaxin 6						endosome organization (GO:0007032)|Golgi vesicle transport (GO:0048193)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)|vesicle fusion (GO:0006906)	clathrin-coated vesicle (GO:0030136)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|SNARE complex (GO:0031201)|trans-Golgi network membrane (GO:0032588)	SNAP receptor activity (GO:0005484)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	10						GGAAGATCCTCATGTAACACA	0.458																																																	0																																										SO:0001624	3_prime_UTR_variant	10228			AJ002078	CCDS1341.1, CCDS65738.1	1q25.3	2008-02-05			ENSG00000135823	ENSG00000135823			11441	protein-coding gene	gene with protein product		603944				10080545	Standard	XM_005244824		Approved		uc021pfr.1	O43752	OTTHUMG00000035179	ENST00000258301.5:c.*2925G>A	1.37:g.180942781C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R652|B4DR17|Q5VY08|Q6FH83	RNA	SNP	-	NULL	ENST00000258301.5	37	NULL	CCDS1341.1	1																																																																																			STX6	-	-		0.458	STX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STX6	HGNC	protein_coding	OTTHUMT00000085143.1	C	NM_005819		180942781	-1	no_errors	ENST00000469135	ensembl	human	known	70_37	rna	SNP	0.110	T
STX8	9482	genome.wustl.edu	37	17	9448547	9448547	+	Nonsense_Mutation	SNP	G	G	A	rs550108459		TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr17:9448547G>A	ENST00000306357.4	-	4	692	c.265C>T	c.(265-267)Cga>Tga	p.R89*	RP11-565F19.3_ENST00000574460.1_RNA|STX8_ENST00000574431.1_5'UTR	NM_004853.2	NP_004844.1	Q9UNK0	STX8_HUMAN	syntaxin 8	89					endosome to lysosome transport (GO:0008333)|intracellular protein transport (GO:0006886)|transport (GO:0006810)|vesicle fusion (GO:0006906)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(1)	12						AGTCTCTCTCGAGTTACAAGA	0.428																																																	0													152.0	136.0	142.0					17																	9448547		2203	4300	6503	SO:0001587	stop_gained	9482			AF115323	CCDS32565.1	17p13.1	2012-05-25			ENSG00000170310	ENSG00000170310			11443	protein-coding gene	gene with protein product		604203				9852078, 10198254	Standard	NM_004853		Approved	CARB	uc002glx.3	Q9UNK0	OTTHUMG00000177844	ENST00000306357.4:c.265C>T	17.37:g.9448547G>A	ENSP00000305255:p.Arg89*	Somatic		WXS	Illumina HiSeq	Phase_IV	O60712|Q53XT8	Nonsense_Mutation	SNP	pfam_T_SNARE_dom,smart_T_SNARE_dom,pfscan_T_SNARE_dom	p.R89*	ENST00000306357.4	37	c.265	CCDS32565.1	17	.	.	.	.	.	.	.	.	.	.	G	38	7.282569	0.98186	.	.	ENSG00000170310	ENST00000306357	.	.	.	5.97	4.99	0.66335	.	0.049288	0.85682	D	0.000000	.	.	.	.	.	.	0.40728	D	0.982725	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-22.7197	10.9936	0.47563	0.0:0.1405:0.7136:0.1459	.	.	.	.	X	89	.	ENSP00000305255:R89X	R	-	1	2	STX8	9389272	0.886000	0.30341	0.939000	0.37840	0.997000	0.91878	2.785000	0.47782	1.499000	0.48617	0.655000	0.94253	CGA	STX8	-	NULL		0.428	STX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STX8	HGNC	protein_coding	OTTHUMT00000439206.3	G	NM_004853		9448547	-1	no_errors	ENST00000306357	ensembl	human	known	70_37	nonsense	SNP	0.474	A
SYTL1	84958	genome.wustl.edu	37	1	27676639	27676639	+	Intron	SNP	G	G	T			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr1:27676639G>T	ENST00000543823.1	+	8	1370				SYTL1_ENST00000318074.5_Intron|SYTL1_ENST00000490170.1_3'UTR			Q8IYJ3	SYTL1_HUMAN	synaptotagmin-like 1						exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|melanosome (GO:0042470)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)			NS(1)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	12		Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.0013)|KIRC - Kidney renal clear cell carcinoma(1967;0.00158)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		TGCCCCGCCGGCCAAGCGGGG	0.706																																																	0													1.0	1.0	1.0					1																	27676639		982	2037	3019	SO:0001627	intron_variant	84958			AK027902	CCDS298.1, CCDS53286.1	1p35.3	2008-02-05			ENSG00000142765	ENSG00000142765			15584	protein-coding gene	gene with protein product		608042				12137562	Standard	NM_032872		Approved	SLP1, JFC1, FLJ14996, exophilin-7	uc001bnw.2	Q8IYJ3	OTTHUMG00000005770	ENST00000543823.1:c.908+16G>T	1.37:g.27676639G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5SSC9|Q96BB6|Q96GU6|Q96S89|Q96SI0	RNA	SNP	-	NULL	ENST00000543823.1	37	NULL	CCDS53286.1	1																																																																																			SYTL1	-	-		0.706	SYTL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SYTL1	HGNC	protein_coding		G	NM_032872		27676639	+1	no_errors	ENST00000490170	ensembl	human	known	70_37	rna	SNP	0.000	T
TAS2R43	259289	genome.wustl.edu	37	12	11244102	11244102	+	Silent	SNP	G	G	A	rs199943442		TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr12:11244102G>A	ENST00000531678.1	-	1	810	c.727C>T	c.(727-729)Ctg>Ttg	p.L243L	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176884.2	NP_795365.2	P59537	T2R43_HUMAN	taste receptor, type 2, member 43	243					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			endometrium(1)|ovary(1)|prostate(2)|urinary_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		ATTATGGACAGAAAGTAAATG	0.418																																																	0													137.0	116.0	123.0					12																	11244102		2131	4144	6275	SO:0001819	synonymous_variant	259289			AF494237	CCDS53749.1	12p13.2	2012-08-22				ENSG00000255374		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18875	protein-coding gene	gene with protein product		612668				12379855	Standard	NM_176884		Approved	T2R52	uc001qzq.1	P59537		ENST00000531678.1:c.727C>T	12.37:g.11244102G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	P59546|Q645X4	Silent	SNP	pfam_TAS2_rcpt	p.L243	ENST00000531678.1	37	c.727	CCDS53749.1	12																																																																																			TAS2R43	-	pfam_TAS2_rcpt		0.418	TAS2R43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R43	HGNC	protein_coding	OTTHUMT00000383561.1	G	NM_176884		11244102	-1	no_errors	ENST00000531678	ensembl	human	known	70_37	silent	SNP	0.000	A
TATDN2	9797	genome.wustl.edu	37	3	10312129	10312129	+	Silent	SNP	C	C	T			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr3:10312129C>T	ENST00000287652.4	+	4	2314	c.1263C>T	c.(1261-1263)ccC>ccT	p.P421P	RP11-438J1.1_ENST00000450534.1_3'UTR|TATDN2_ENST00000448281.2_Silent_p.P421P	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	421					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|DNA catabolic process (GO:0006308)|endoplasmic reticulum unfolded protein response (GO:0030968)	intracellular organelle (GO:0043229)|nucleoplasm (GO:0005654)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						ATTATTCCCCCAACTCTACAG	0.572																																																	0													90.0	90.0	90.0					3																	10312129		2203	4300	6503	SO:0001819	synonymous_variant	9797			D86972	CCDS33698.1	3p25.3	2010-11-24			ENSG00000157014	ENSG00000157014			28988	protein-coding gene	gene with protein product						9039502	Standard	NM_014760		Approved	KIAA0218	uc003bvf.3	Q93075	OTTHUMG00000155361	ENST00000287652.4:c.1263C>T	3.37:g.10312129C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q3MIL9|Q5BKU0	Silent	SNP	pfam_TatD_family	p.P421	ENST00000287652.4	37	c.1263	CCDS33698.1	3																																																																																			TATDN2	-	NULL		0.572	TATDN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TATDN2	HGNC	protein_coding	OTTHUMT00000339641.1	C	XM_376203		10312129	+1	no_errors	ENST00000287652	ensembl	human	known	70_37	silent	SNP	0.000	T
TET1	80312	genome.wustl.edu	37	10	70404519	70404519	+	Missense_Mutation	SNP	G	G	T			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr10:70404519G>T	ENST00000373644.4	+	4	2242	c.2033G>T	c.(2032-2034)gGt>gTt	p.G678V		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	678					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						AGTAGATGTGGTCATGGGGAA	0.388																																																	0													57.0	54.0	55.0					10																	70404519		2203	4300	6503	SO:0001583	missense	80312			AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"""leukemia-associated protein with a CXXC domain"", ""ten-eleven translocation-1"""	607790	"""CXXC zinc finger 6"", ""tet oncogene 1"""	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.2033G>T	10.37:g.70404519G>T	ENSP00000362748:p.Gly678Val	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Missense_Mutation	SNP	pfam_Znf_CXXC,pfscan_Znf_CXXC	p.G678V	ENST00000373644.4	37	c.2033	CCDS7281.1	10	.	.	.	.	.	.	.	.	.	.	G	14.06	2.421887	0.43020	.	.	ENSG00000138336	ENST00000373644	T	0.08896	3.04	5.93	5.02	0.67125	.	0.822182	0.10636	N	0.651597	T	0.15262	0.0368	L	0.29908	0.895	0.53005	D	0.999965	D	0.64830	0.994	P	0.57720	0.826	T	0.01800	-1.1271	10	0.62326	D	0.03	.	10.5192	0.44910	0.0686:0.1344:0.797:0.0	.	678	Q8NFU7	TET1_HUMAN	V	678	ENSP00000362748:G678V	ENSP00000362748:G678V	G	+	2	0	TET1	70074525	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.594000	0.54008	1.514000	0.48869	0.655000	0.94253	GGT	TET1	-	NULL		0.388	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TET1	HGNC	protein_coding	OTTHUMT00000048354.1	G	NM_030625		70404519	+1	no_errors	ENST00000373644	ensembl	human	known	70_37	missense	SNP	1.000	T
TP73	7161	genome.wustl.edu	37	1	3638726	3638726	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr1:3638726G>A	ENST00000378295.4	+	5	726	c.571G>A	c.(571-573)Gtg>Atg	p.V191M	TP73_ENST00000354437.4_Missense_Mutation_p.V191M|TP73_ENST00000378290.4_Missense_Mutation_p.V120M|TP73_ENST00000604479.1_Missense_Mutation_p.V191M|TP73_ENST00000357733.3_Missense_Mutation_p.V191M|TP73_ENST00000378285.1_Missense_Mutation_p.V142M|TP73_ENST00000378280.1_Missense_Mutation_p.V142M|TP73_ENST00000603362.1_Missense_Mutation_p.V191M|TP73_ENST00000346387.4_Missense_Mutation_p.V191M|TP73_ENST00000378288.4_Missense_Mutation_p.V142M|TP73_ENST00000604074.1_Missense_Mutation_p.V191M	NM_001204185.1|NM_005427.3	NP_001191114.1|NP_005418.1	O15350	P73_HUMAN	tumor protein p73	191	DNA-binding. {ECO:0000255}.				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)		GACCGACGTCGTGAAACGCTG	0.647																																																	0													68.0	62.0	64.0					1																	3638726		2201	4298	6499	SO:0001583	missense	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.571G>A	1.37:g.3638726G>A	ENSP00000367545:p.Val191Met	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z7J4|B7Z8Z1|B7Z9C1|C9J521|O15351|Q17RN8|Q5TBV5|Q5TBV6|Q8NHW9|Q8TDY5|Q8TDY6|Q9NTK8	Missense_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.V191M	ENST00000378295.4	37	c.571	CCDS49.1	1	.	.	.	.	.	.	.	.	.	.	G	13.02	2.110893	0.37242	.	.	ENSG00000078900	ENST00000378295;ENST00000354437;ENST00000357733;ENST00000346387;ENST00000378288;ENST00000378285;ENST00000378280;ENST00000378290	D;D;D;D;D;D;D;D	0.99860	-7.25;-7.25;-7.25;-7.25;-7.25;-7.25;-7.25;-7.25	3.12	2.2	0.27929	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.302849	0.30584	N	0.009315	D	0.99843	0.9928	M	0.90483	3.12	0.58432	D	0.999999	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999;1.0	P;D;D;D;D;D	0.76575	0.889;0.988;0.932;0.909;0.968;0.96	D	0.97404	0.9998	10	0.87932	D	0	-10.3824	11.5626	0.50785	0.0:0.1826:0.8174:0.0	.	142;142;142;142;191;191	B7Z8Z1;O15350-10;O15350-9;O15350-8;O15350-2;O15350	.;.;.;.;.;P73_HUMAN	M	191;191;191;191;142;142;142;120	ENSP00000367545:V191M;ENSP00000346423:V191M;ENSP00000350366:V191M;ENSP00000340740:V191M;ENSP00000367537:V142M;ENSP00000367534:V142M;ENSP00000367529:V142M;ENSP00000367539:V120M	ENSP00000340740:V191M	V	+	1	0	TP73	3628586	1.000000	0.71417	0.397000	0.26308	0.045000	0.14185	7.540000	0.82074	0.668000	0.31126	-0.323000	0.08544	GTG	TP73	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor		0.647	TP73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP73	HGNC	protein_coding	OTTHUMT00000001468.4	G	NM_005427		3638726	+1	no_errors	ENST00000378295	ensembl	human	known	70_37	missense	SNP	1.000	A
TMEM51	55092	genome.wustl.edu	37	1	15545935	15545935	+	Missense_Mutation	SNP	G	G	C			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr1:15545935G>C	ENST00000428417.1	+	3	904	c.458G>C	c.(457-459)aGg>aCg	p.R153T	TMEM51_ENST00000434578.2_3'UTR|TMEM51_ENST00000400796.3_Missense_Mutation_p.R153T|TMEM51_ENST00000376014.3_Missense_Mutation_p.R153T|TMEM51_ENST00000376008.2_Missense_Mutation_p.R153T	NM_001136217.1	NP_001129689.1	Q9NW97	TMM51_HUMAN	transmembrane protein 51	153						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(3)|large_intestine(2)|lung(5)|prostate(2)	14		Renal(390;0.00145)|Breast(348;0.00186)|Colorectal(325;0.00215)|all_lung(284;0.00459)|Lung NSC(340;0.0104)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;2.07e-06)|COAD - Colon adenocarcinoma(227;7.14e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000175)|KIRC - Kidney renal clear cell carcinoma(229;0.00141)|STAD - Stomach adenocarcinoma(313;0.00644)|READ - Rectum adenocarcinoma(331;0.0751)		CAGAACCCGAGGTTGAGCATC	0.592																																																	0													95.0	91.0	92.0					1																	15545935		2203	4300	6503	SO:0001583	missense	55092			AK098467	CCDS154.1	1p36.21	2008-02-05	2005-05-22	2005-05-22	ENSG00000171729	ENSG00000171729			25488	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 72"""	C1orf72		12477932	Standard	NM_018022		Approved	FLJ10199	uc001avx.3	Q9NW97	OTTHUMG00000002046	ENST00000428417.1:c.458G>C	1.37:g.15545935G>C	ENSP00000394899:p.Arg153Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K819	Missense_Mutation	SNP	NULL	p.R153T	ENST00000428417.1	37	c.458	CCDS154.1	1	.	.	.	.	.	.	.	.	.	.	G	11.97	1.798002	0.31777	.	.	ENSG00000171729	ENST00000428417;ENST00000376014;ENST00000451326;ENST00000434578;ENST00000400796;ENST00000376008;ENST00000303840	T;T;T;T	0.31247	1.5;1.5;1.5;1.5	5.63	5.63	0.86233	.	0.186843	0.64402	D	0.000006	T	0.40222	0.1108	L	0.59436	1.845	0.34678	D	0.72437	D	0.53885	0.963	P	0.48270	0.572	T	0.46596	-0.9180	10	0.27082	T	0.32	-10.6072	18.6706	0.91510	0.0:0.0:1.0:0.0	.	153	Q9NW97	TMM51_HUMAN	T	153	ENSP00000394899:R153T;ENSP00000365182:R153T;ENSP00000383600:R153T;ENSP00000365176:R153T	ENSP00000303666:R153T	R	+	2	0	TMEM51	15418522	1.000000	0.71417	0.262000	0.24481	0.249000	0.25844	8.489000	0.90461	2.665000	0.90641	0.555000	0.69702	AGG	TMEM51	-	NULL		0.592	TMEM51-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM51	HGNC	protein_coding	OTTHUMT00000005699.3	G	NM_018022		15545935	+1	no_errors	ENST00000376008	ensembl	human	known	70_37	missense	SNP	0.527	C
TLR5	7100	genome.wustl.edu	37	1	223286248	223286248	+	Silent	SNP	G	G	C			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr1:223286248G>C	ENST00000540964.1	-	4	587	c.126C>G	c.(124-126)ccC>ccG	p.P42P	TLR5_ENST00000342210.6_Silent_p.P42P			O60602	TLR5_HUMAN	toll-like receptor 5	42					cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of cytokine secretion (GO:0050707)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor signaling pathway (GO:0002224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		TGAGGACCTGGGGGACCTGGG	0.537																																																	0													61.0	62.0	62.0					1																	223286248		2203	4300	6503	SO:0001819	synonymous_variant	7100				CCDS31033.1	1q32.3-q42	2014-01-29			ENSG00000187554	ENSG00000187554			11851	protein-coding gene	gene with protein product	"""Toll/interleukin-1 receptor-like protein 3"""	603031	"""systemic lupus erythematosus susceptibility 1"""	SLEB1		9435236, 16027372	Standard	NM_003268		Approved	TIL3, FLJ10052, MGC126430, MGC126431	uc001hnw.2	O60602	OTTHUMG00000037937	ENST00000540964.1:c.126C>G	1.37:g.223286248G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B1AZ05|B3Y633|B9VJ63|D1CS80|D3DTB8|O15456|Q32MI2|Q32MI3	Silent	SNP	pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom	p.P42	ENST00000540964.1	37	c.126	CCDS31033.1	1																																																																																			TLR5	-	NULL		0.537	TLR5-202	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR5	HGNC	protein_coding		G	NM_003268		223286248	-1	no_errors	ENST00000342210	ensembl	human	known	70_37	silent	SNP	0.287	C
TPT1-AS1	100190939	genome.wustl.edu	37	13	45965226	45965226	+	RNA	SNP	C	C	G			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr13:45965226C>G	ENST00000517509.1	+	0	1134				TPT1-AS1_ENST00000519454.1_RNA|TPT1-AS1_ENST00000520585.1_RNA|TPT1-AS1_ENST00000522673.1_RNA	NR_024458.1				TPT1 antisense RNA 1																		GATCAACAATCTTCCCTAGCC	0.507																																																	0																																												100190939			AF318337		13q14.13	2012-10-12	2012-08-15		ENSG00000170919	ENSG00000170919		"""Long non-coding RNAs"""	43686	non-coding RNA	RNA, long non-coding			"""TPT1 antisense RNA 1 (non-protein coding)"""				Standard	NR_024458		Approved		uc021rjh.1		OTTHUMG00000016851		13.37:g.45965226C>G		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000517509.1	37	NULL		13																																																																																			TPT1-AS1	-	-		0.507	TPT1-AS1-003	KNOWN	basic	antisense	TPT1-AS1	HGNC	antisense	OTTHUMT00000374919.1	C	NR_024458		45965226	+1	no_errors	ENST00000379050	ensembl	human	known	70_37	rna	SNP	1.000	G
TRIM41	90933	genome.wustl.edu	37	5	180661467	180661467	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr5:180661467C>T	ENST00000315073.5	+	6	2295	c.1585C>T	c.(1585-1587)Cgc>Tgc	p.R529C	TRIM41_ENST00000351937.5_Intron|TRIM41_ENST00000510072.1_3'UTR	NM_033549.4	NP_291027.3	Q8WV44	TRI41_HUMAN	tripartite motif containing 41	529	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|prostate(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAGCTCCTCGCGCCATCACCA	0.692																																																	0													19.0	22.0	21.0					5																	180661467		2200	4295	6495	SO:0001583	missense	90933			AF258579	CCDS4465.1, CCDS4466.1	5q35.3	2013-01-09	2011-01-25		ENSG00000146063	ENSG00000146063		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19013	protein-coding gene	gene with protein product	"""RING-finger protein that interacts with C kinase"""	610530	"""tripartite motif-containing 41"""			16022281	Standard	NM_033549		Approved	MGC1127, RINCK	uc003mne.2	Q8WV44	OTTHUMG00000130965	ENST00000315073.5:c.1585C>T	5.37:g.180661467C>T	ENSP00000320869:p.Arg529Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KNJ6|D3DWR9|Q5BKT0|Q7L484|Q96Q10|Q9BSL8	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,pfam_DUF3631,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.R529C	ENST00000315073.5	37	c.1585	CCDS4466.1	5	.	.	.	.	.	.	.	.	.	.	C	11.43	1.635573	0.29068	.	.	ENSG00000146063	ENST00000315073;ENST00000438174	T	0.55930	0.49	5.32	4.4	0.53042	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.52532	D	0.000063	T	0.36331	0.0963	N	0.01576	-0.805	0.36818	D	0.886229	D	0.69078	0.997	P	0.54815	0.761	T	0.55179	-0.8181	10	0.59425	D	0.04	.	11.1754	0.48596	0.0:0.8142:0.1858:0.0	.	529	Q8WV44	TRI41_HUMAN	C	529;214	ENSP00000320869:R529C	ENSP00000320869:R529C	R	+	1	0	TRIM41	180594073	0.956000	0.32656	0.952000	0.39060	0.201000	0.24016	1.938000	0.40203	2.512000	0.84698	0.449000	0.29647	CGC	TRIM41	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY		0.692	TRIM41-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM41	HGNC	protein_coding	OTTHUMT00000253574.3	C	NM_201627		180661467	+1	no_errors	ENST00000315073	ensembl	human	known	70_37	missense	SNP	0.799	T
TTN	7273	genome.wustl.edu	37	2	179410126	179410126	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr2:179410126C>T	ENST00000591111.1	-	294	91012	c.90788G>A	c.(90787-90789)aGa>aAa	p.R30263K	TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R23031K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R22964K|TTN_ENST00000460472.2_Missense_Mutation_p.R22839K|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R31904K|TTN_ENST00000342992.6_Missense_Mutation_p.R29336K|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	30263	Fibronectin type-III 120. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGATGGTTCTCTGCATGAGAT	0.433																																																	0													91.0	91.0	91.0					2																	179410126		1964	4146	6110	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.90788G>A	2.37:g.179410126C>T	ENSP00000465570:p.Arg30263Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.R29336K	ENST00000591111.1	37	c.88007		2	.	.	.	.	.	.	.	.	.	.	C	13.20	2.166531	0.38217	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.55234	0.53;0.53;0.53;0.53	6.03	4.03	0.46877	Fibronectin, type III (2);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.30324	0.0761	N	0.11064	0.09	0.31688	N	0.642256	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.001;0.001	T	0.26643	-1.0097	9	0.87932	D	0	.	4.3328	0.11071	0.0:0.5738:0.0:0.4262	.	22839;22964;23031;30263	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	29336;22839;23031;22964;22836	ENSP00000343764:R29336K;ENSP00000434586:R22839K;ENSP00000340554:R23031K;ENSP00000352154:R22964K	ENSP00000340554:R23031K	R	-	2	0	TTN	179118372	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.109000	0.31135	1.572000	0.49736	0.557000	0.71058	AGA	TTN	-	superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom		0.433	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179410126	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	T
TTN	7273	genome.wustl.edu	37	2	179428176	179428176	+	Missense_Mutation	SNP	G	G	T			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr2:179428176G>T	ENST00000591111.1	-	276	77984	c.77760C>A	c.(77758-77760)ttC>ttA	p.F25920L	TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.F18688L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.F18621L|TTN_ENST00000460472.2_Missense_Mutation_p.F18496L|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.F27561L|TTN_ENST00000342992.6_Missense_Mutation_p.F24993L|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	25920	Fibronectin type-III 88. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACGCACGGTAGAAAACAGATG	0.512																																																	0													75.0	75.0	75.0					2																	179428176		1985	4159	6144	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.77760C>A	2.37:g.179428176G>T	ENSP00000465570:p.Phe25920Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.F24993L	ENST00000591111.1	37	c.74979		2	.	.	.	.	.	.	.	.	.	.	G	11.78	1.741037	0.30865	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.54675	0.56;0.56;0.56;0.56	5.85	3.99	0.46301	Fibronectin, type III (2);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.39226	0.1070	N	0.20881	0.62	0.46241	D	0.998943	B;B;B;B	0.06786	0.001;0.001;0.001;0.001	B;B;B;B	0.06405	0.002;0.002;0.002;0.002	T	0.20672	-1.0268	9	0.87932	D	0	.	11.9052	0.52708	0.0664:0.1226:0.811:0.0	.	18496;18621;18688;25920	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	L	24993;18496;18688;18621;18494	ENSP00000343764:F24993L;ENSP00000434586:F18496L;ENSP00000340554:F18688L;ENSP00000352154:F18621L	ENSP00000340554:F18688L	F	-	3	2	TTN	179136422	1.000000	0.71417	0.995000	0.50966	0.993000	0.82548	5.271000	0.65553	0.763000	0.33175	0.563000	0.77884	TTC	TTN	-	superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,pfscan_Fibronectin_type3		0.512	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	G	NM_133378		179428176	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	T
TTN	7273	genome.wustl.edu	37	2	179440107	179440107	+	Silent	SNP	G	G	A			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr2:179440107G>A	ENST00000591111.1	-	276	66053	c.65829C>T	c.(65827-65829)acC>acT	p.T21943T	RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.T14711T|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Silent_p.T14644T|TTN_ENST00000460472.2_Silent_p.T14519T|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Silent_p.T23584T|TTN_ENST00000342992.6_Silent_p.T21016T|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	21943	Fibronectin type-III 59. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACCCTTTCACGGTTGTGATGT	0.507																																																	0													107.0	103.0	104.0					2																	179440107		1989	4175	6164	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.65829C>T	2.37:g.179440107G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.T21016	ENST00000591111.1	37	c.63048		2																																																																																			TTN	-	pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.507	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	G	NM_133378		179440107	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	silent	SNP	0.012	A
TUBD1	51174	genome.wustl.edu	37	17	57937752	57937752	+	Silent	SNP	G	G	T	rs376202678		TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr17:57937752G>T	ENST00000592426.1	-	8	1293	c.1293C>A	c.(1291-1293)atC>atA	p.I431I	TUBD1_ENST00000394239.3_Silent_p.I374I|TUBD1_ENST00000346141.6_Silent_p.I177I|TUBD1_ENST00000325752.3_Silent_p.I431I|TUBD1_ENST00000376094.4_Silent_p.I329I|TUBD1_ENST00000539018.1_Silent_p.I215I|TUBD1_ENST00000340993.6_Silent_p.I376I			Q9UJT1	TBD_HUMAN	tubulin, delta 1	431					cell differentiation (GO:0030154)|microtubule-based process (GO:0007017)|multicellular organismal development (GO:0007275)|protein polymerization (GO:0051258)|spermatogenesis (GO:0007283)	centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2)	21	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)		Vinblastine(DB00570)	CCTCTTCTTCGATTCCAAATT	0.333																																																	0													117.0	113.0	115.0					17																	57937752		2203	4300	6503	SO:0001819	synonymous_variant	51174			AF201333	CCDS11620.1, CCDS54151.1, CCDS54152.1, CCDS54153.1, CCDS54154.1	17q23.1	2007-03-16						"""Tubulins"""	16811	protein-coding gene	gene with protein product		607344				10620804	Standard	NM_016261		Approved	FLJ12709, TUBD	uc002ixw.2	Q9UJT1		ENST00000592426.1:c.1293C>A	17.37:g.57937752G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DPT8|B4DW01|D3DU02|E9PCA7|E9PCQ8|Q5KU36|Q9BWG9|Q9H7Z8	Silent	SNP	pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,prints_Delta_tubulin,prints_Tubulin,prints_Epsilon_tubulin	p.I431	ENST00000592426.1	37	c.1293	CCDS11620.1	17																																																																																			TUBD1	-	superfamily_Tub_FtsZ_C,prints_Delta_tubulin		0.333	TUBD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBD1	HGNC	protein_coding	OTTHUMT00000448815.1	G	NM_016261		57937752	-1	no_errors	ENST00000325752	ensembl	human	known	70_37	silent	SNP	0.988	T
TYR	7299	genome.wustl.edu	37	11	88911318	88911318	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr11:88911318G>A	ENST00000263321.5	+	1	699	c.197G>A	c.(196-198)gGg>gAg	p.G66E	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	66					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process from tyrosine (GO:0006583)|thymus development (GO:0048538)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)	copper ion binding (GO:0005507)|monophenol monooxygenase activity (GO:0004503)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|Monobenzone(DB00600)	GCACCACTTGGGCCTCAATTT	0.547																																																	0													58.0	47.0	51.0					11																	88911318		2201	4299	6500	SO:0001583	missense	7299			M27160	CCDS8284.1	11q14.3	2013-09-27	2012-09-28		ENSG00000077498	ENSG00000077498	1.14.18.1		12442	protein-coding gene	gene with protein product	"""oculocutaneous albinism IA"""	606933					Standard	NM_000372		Approved	OCAIA, OCA1A, OCA1	uc001pcs.3	P14679	OTTHUMG00000167294	ENST00000263321.5:c.197G>A	11.37:g.88911318G>A	ENSP00000263321:p.Gly66Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q15675|Q15676|Q15680|Q8TAK4|Q9BYY0|Q9BZX1	Missense_Mutation	SNP	pfam_Tyrosinase,superfamily_Unchr_di-copper_centre,prints_Tyrosinase	p.G66E	ENST00000263321.5	37	c.197	CCDS8284.1	11	.	.	.	.	.	.	.	.	.	.	G	26.0	4.699885	0.88924	.	.	ENSG00000077498	ENST00000263321	D	0.99121	-5.45	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.99411	0.9792	M	0.86953	2.85	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99164	1.0862	9	.	.	.	.	20.6593	0.99626	0.0:0.0:1.0:0.0	.	66	P14679	TYRO_HUMAN	E	66	ENSP00000263321:G66E	.	G	+	2	0	TYR	88550966	1.000000	0.71417	0.982000	0.44146	0.849000	0.48306	9.357000	0.97099	2.885000	0.99019	0.655000	0.94253	GGG	TYR	-	NULL		0.547	TYR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TYR	HGNC	protein_coding	OTTHUMT00000394045.2	G	NM_000372		88911318	+1	no_errors	ENST00000263321	ensembl	human	known	70_37	missense	SNP	1.000	A
TYROBP	7305	genome.wustl.edu	37	19	36398351	36398351	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr19:36398351C>T	ENST00000262629.4	-	3	292	c.226G>A	c.(226-228)Gag>Aag	p.E76K	TYROBP_ENST00000585901.2_Missense_Mutation_p.E76K|TYROBP_ENST00000544690.2_Missense_Mutation_p.E65K|TYROBP_ENST00000424586.3_Missense_Mutation_p.E65K|TYROBP_ENST00000589517.1_Missense_Mutation_p.E76K	NM_003332.3|NM_198125.2	NP_003323.1|NP_937758.1	O43914	TYOBP_HUMAN	TYRO protein tyrosine kinase binding protein	76					axon guidance (GO:0007411)|cellular defense response (GO:0006968)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|macrophage activation involved in immune response (GO:0002281)|neutrophil activation involved in immune response (GO:0002283)|regulation of immune response (GO:0050776)|regulation of osteoclast development (GO:2001204)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|receptor binding (GO:0005102)|receptor signaling protein activity (GO:0005057)			NS(1)|central_nervous_system(1)|large_intestine(1)|lung(4)|skin(1)	8	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CACTCACCCTCCGCAGCCCCT	0.632																																																	0													35.0	42.0	40.0					19																	36398351		2202	4300	6502	SO:0001583	missense	7305			AF019563	CCDS12482.1, CCDS46058.1, CCDS54255.1, CCDS59378.1	19q13.1	2014-09-17				ENSG00000011600			12449	protein-coding gene	gene with protein product	"""killer activating receptor associated protein"", ""DNAX-activation protein 12"""	604142		PLOSL		9490415, 10888890	Standard	NM_003332		Approved	DAP12, PLO-SL, KARAP	uc002ocm.3	O43914		ENST00000262629.4:c.226G>A	19.37:g.36398351C>T	ENSP00000262629:p.Glu76Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K2X0|F5H389|Q6FGA5|Q9UMT3	Missense_Mutation	SNP	NULL	p.E76K	ENST00000262629.4	37	c.226	CCDS12482.1	19	.	.	.	.	.	.	.	.	.	.	C	15.06	2.722214	0.48728	.	.	ENSG00000011600	ENST00000262629;ENST00000424586;ENST00000544690	D;D;D	0.86956	-2.19;-2.14;-2.19	4.81	1.24	0.21308	.	0.642064	0.14347	N	0.325328	T	0.77598	0.4154	L	0.60455	1.87	0.09310	N	1	P;P	0.34724	0.465;0.465	B;B	0.31101	0.124;0.124	T	0.61182	-0.7114	10	0.10377	T	0.69	.	3.3302	0.07082	0.1761:0.5568:0.1708:0.0963	.	76;76	O43914-2;O43914	.;TYOBP_HUMAN	K	76;76;65	ENSP00000262629:E76K;ENSP00000402371:E76K;ENSP00000445332:E65K	ENSP00000262629:E76K	E	-	1	0	TYROBP	41090191	0.013000	0.17824	0.005000	0.12908	0.431000	0.31685	1.068000	0.30629	0.605000	0.29947	0.591000	0.81541	GAG	TYROBP	-	NULL		0.632	TYROBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TYROBP	HGNC	protein_coding	OTTHUMT00000457397.1	C			36398351	-1	no_errors	ENST00000262629	ensembl	human	known	70_37	missense	SNP	0.004	T
UBR2	23304	genome.wustl.edu	37	6	42657395	42657395	+	Missense_Mutation	SNP	G	G	A	rs545959613		TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr6:42657395G>A	ENST00000372899.1	+	46	5371	c.5113G>A	c.(5113-5115)Gac>Aac	p.D1705N	UBR2_ENST00000372883.3_3'UTR|UBR2_ENST00000372901.1_Missense_Mutation_p.D1705N	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	1705					cellular response to leucine (GO:0071233)|chromatin silencing (GO:0006342)|histone H2A ubiquitination (GO:0033522)|male meiosis I (GO:0007141)|negative regulation of TOR signaling (GO:0032007)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			TGGGGAGACCGACCAGGGACT	0.522													G|||	1	0.000199681	0.0	0.0	5008	,	,		20122	0.0		0.001	False		,,,				2504	0.0																0													233.0	238.0	236.0					6																	42657395		2203	4300	6503	SO:0001583	missense	23304			BC024217	CCDS4870.1, CCDS55001.1	6p21.1	2008-06-23	2005-01-10	2005-01-12	ENSG00000024048	ENSG00000024048		"""Ubiquitin protein ligase E3 component n-recognins"""	21289	protein-coding gene	gene with protein product		609134	"""chromosome 6 open reading frame 133"""	C6orf133			Standard	NM_015255		Approved	bA49A4.1, dJ392M17.3, KIAA0349	uc011dur.2	Q8IWV8	OTTHUMG00000014703	ENST00000372899.1:c.5113G>A	6.37:g.42657395G>A	ENSP00000361990:p.Asp1705Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	Missense_Mutation	SNP	pfam_ClpS_core,pfam_Znf_N-recognin,superfamily_Ribosomal_L7/12_C/ClpS-like,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.D1705N	ENST00000372899.1	37	c.5113	CCDS4870.1	6	.	.	.	.	.	.	.	.	.	.	G	36	5.608098	0.96626	.	.	ENSG00000024048	ENST00000372899;ENST00000372901	T;T	0.67523	-0.27;-0.27	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.81527	0.4841	M	0.83774	2.66	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.995;0.999;1.0	T	0.82587	-0.0383	10	0.54805	T	0.06	-15.6061	19.3331	0.94299	0.0:0.0:1.0:0.0	.	293;1705;1705	B3KXG6;Q8IWV8-4;Q8IWV8	.;.;UBR2_HUMAN	N	1705	ENSP00000361990:D1705N;ENSP00000361992:D1705N	ENSP00000361990:D1705N	D	+	1	0	UBR2	42765373	1.000000	0.71417	0.994000	0.49952	0.974000	0.67602	9.869000	0.99810	2.563000	0.86464	0.557000	0.71058	GAC	UBR2	-	NULL		0.522	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UBR2	HGNC	protein_coding	OTTHUMT00000040558.2	G	NM_015255		42657395	+1	no_errors	ENST00000372899	ensembl	human	known	70_37	missense	SNP	1.000	A
UMODL1	89766	genome.wustl.edu	37	21	43504341	43504341	+	Missense_Mutation	SNP	C	C	A			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr21:43504341C>A	ENST00000408910.2	+	3	467	c.467C>A	c.(466-468)gCc>gAc	p.A156D	UMODL1_ENST00000400427.1_Missense_Mutation_p.A84D|UMODL1_ENST00000400424.2_Missense_Mutation_p.A84D|UMODL1_ENST00000408989.2_Missense_Mutation_p.A156D	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1	156	WAP. {ECO:0000255|PROSITE- ProRule:PRU00722}.				adipose tissue development (GO:0060612)|cellular response to gonadotropin-releasing hormone (GO:0097211)|multicellular organismal reproductive process (GO:0048609)|regulation of apoptotic process (GO:0042981)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|peptidase inhibitor activity (GO:0030414)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						TACTGCATGGCCCCTGCACCC	0.642																																					Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)												0													48.0	51.0	50.0					21																	43504341		1924	4130	6054	SO:0001583	missense	89766				CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1	21q22.3	2008-07-04			ENSG00000177398	ENSG00000177398			12560	protein-coding gene	gene with protein product	"""olfactorin"""	613859				16026467	Standard	NM_173568		Approved		uc002zag.1	Q5DID0	OTTHUMG00000086788	ENST00000408910.2:c.467C>A	21.37:g.43504341C>A	ENSP00000386147:p.Ala156Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Missense_Mutation	SNP	pfam_ZP_dom,pfam_SEA,pfam_EGF-like_Ca-bd,pfam_EMI_domain,pfam_Whey_acidic_protein_4-diS_core,superfamily_Fibronectin_type3,superfamily_Whey_acidic_protein_4-diS_core,smart_Whey_acidic_protein_4-diS_core,smart_EGF-like_Ca-bd,smart_Fibronectin_type3,smart_ZP_dom,pfscan_EG-like_dom,pfscan_EMI_domain,pfscan_Fibronectin_type3,pfscan_ZP_dom,prints_ZP_dom	p.A156D	ENST00000408910.2	37	c.467	CCDS42936.1	21	.	.	.	.	.	.	.	.	.	.	C	6.153	0.396511	0.11638	.	.	ENSG00000177398	ENST00000400427;ENST00000400424;ENST00000408989;ENST00000408910;ENST00000380462;ENST00000400417	T;T;T;T	0.70986	-0.53;-0.53;-0.53;-0.53	3.86	0.905	0.19307	Whey acidic protein, 4-disulphide core (5);	1.047410	0.07566	N	0.917807	T	0.47173	0.1431	N	0.14661	0.345	0.09310	N	1	B;B	0.33637	0.42;0.009	B;B	0.25506	0.061;0.018	T	0.38845	-0.9642	10	0.54805	T	0.06	-11.598	3.3953	0.07303	0.4008:0.3946:0.0:0.2045	.	156;156	Q5DID0-2;Q5DID0	.;UROL1_HUMAN	D	84;84;156;156;2;2	ENSP00000383279:A84D;ENSP00000383276:A84D;ENSP00000386126:A156D;ENSP00000386147:A156D	ENSP00000369829:A2D	A	+	2	0	UMODL1	42377410	0.261000	0.24063	0.017000	0.16124	0.007000	0.05969	0.478000	0.22212	0.177000	0.19895	-0.253000	0.11424	GCC	UMODL1	-	pfam_Whey_acidic_protein_4-diS_core,superfamily_Whey_acidic_protein_4-diS_core,smart_Whey_acidic_protein_4-diS_core		0.642	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	UMODL1	HGNC	protein_coding	OTTHUMT00000195292.2	C			43504341	+1	no_errors	ENST00000408989	ensembl	human	known	70_37	missense	SNP	0.042	A
UPF3B	65109	genome.wustl.edu	37	X	118979190	118979190	+	Missense_Mutation	SNP	C	C	G			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chrX:118979190C>G	ENST00000276201.2	-	4	509	c.440G>C	c.(439-441)aGa>aCa	p.R147T	UPF3B_ENST00000345865.2_Missense_Mutation_p.R147T|UPF3B_ENST00000478840.1_5'UTR	NM_080632.2	NP_542199.1	Q9BZI7	REN3B_HUMAN	UPF3 regulator of nonsense transcripts homolog B (yeast)	147	Necessary for interaction with UPF2.|Sufficient for association with EJC core.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|prostate(1)	30						TTTGGTATCTCTTTTCTTAGT	0.333																																																	0													141.0	128.0	133.0					X																	118979190		2203	4300	6503	SO:0001583	missense	65109			AF318576	CCDS14587.1, CCDS14588.1	Xq25-q26	2014-01-31			ENSG00000125351	ENSG00000125351			20439	protein-coding gene	gene with protein product		300298	"""mental retardation, X-linked 62"""	MRX62		11113196, 11163187, 19238151	Standard	NM_023010		Approved	RENT3B, UPF3X, HUPF3B	uc004erz.2	Q9BZI7	OTTHUMG00000022282	ENST00000276201.2:c.440G>C	X.37:g.118979190C>G	ENSP00000276201:p.Arg147Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DWI3|D3DWI4|Q0VAK8|Q9H1J0	Missense_Mutation	SNP	pfam_Nonsense_mediated_decay_UPF3	p.R147T	ENST00000276201.2	37	c.440	CCDS14588.1	X	.	.	.	.	.	.	.	.	.	.	C	13.43	2.234299	0.39498	.	.	ENSG00000125351	ENST00000276201;ENST00000345865;ENST00000439808	T;T	0.62788	-0.0;-0.0	5.12	4.12	0.48240	Regulator of nonsense-mediated decay, UPF3 (1);	0.196194	0.53938	D	0.000049	T	0.57021	0.2025	L	0.46885	1.475	0.38538	D	0.949145	B;D	0.54601	0.403;0.967	B;P	0.50082	0.157;0.63	T	0.64236	-0.6455	10	0.87932	D	0	.	3.261	0.06849	0.0:0.5772:0.0:0.4228	.	147;147	Q9BZI7-2;Q9BZI7	.;REN3B_HUMAN	T	147	ENSP00000276201:R147T;ENSP00000245418:R147T	ENSP00000276201:R147T	R	-	2	0	UPF3B	118863218	1.000000	0.71417	1.000000	0.80357	0.320000	0.28249	3.062000	0.49971	2.105000	0.64084	0.594000	0.82650	AGA	UPF3B	-	pfam_Nonsense_mediated_decay_UPF3		0.333	UPF3B-001	KNOWN	basic|CCDS	protein_coding	UPF3B	HGNC	protein_coding	OTTHUMT00000058068.1	C			118979190	-1	no_errors	ENST00000276201	ensembl	human	known	70_37	missense	SNP	1.000	G
UTP14A	10813	genome.wustl.edu	37	X	129042083	129042083	+	Silent	SNP	C	C	T			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chrX:129042083C>T	ENST00000394422.3	+	3	178	c.150C>T	c.(148-150)atC>atT	p.I50I	UTP14A_ENST00000425117.2_Silent_p.I50I|UTP14A_ENST00000371051.5_Missense_Mutation_p.S18L|RP4-537K23.4_ENST00000432062.1_RNA	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)	50					rRNA processing (GO:0006364)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						TGGAAGCAATCAGTTCCCTTG	0.428																																																	0													115.0	99.0	104.0					X																	129042083		2203	4300	6503	SO:0001819	synonymous_variant	10813			AF039694	CCDS14615.1, CCDS55489.1	Xq26.1	2009-01-15	2004-06-01	2004-06-01	ENSG00000156697	ENSG00000156697			10665	protein-coding gene	gene with protein product		300508	"""serologically defined colon cancer antigen 16"""	SDCCAG16		9610721, 16354793	Standard	NM_006649		Approved	NY-CO-16	uc004euz.3	Q9BVJ6	OTTHUMG00000022378	ENST00000394422.3:c.150C>T	X.37:g.129042083C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K7A3|A8MVQ1|B4DQ08|E9PEL7|Q5JYF1	Missense_Mutation	SNP	pfam_SSU_processome_Utp14	p.S18L	ENST00000394422.3	37	c.53	CCDS14615.1	X	.	.	.	.	.	.	.	.	.	.	C	11.88	1.771210	0.31320	.	.	ENSG00000156697	ENST00000371051	T	0.18016	2.24	5.0	-0.132	0.13489	.	.	.	.	.	T	0.13157	0.0319	.	.	.	0.80722	D	1	B	0.09022	0.002	B	0.08055	0.003	T	0.07366	-1.0776	8	0.56958	D	0.05	-8.5282	8.7156	0.34410	0.0:0.3728:0.0:0.6272	.	18	F8WD00	.	L	18	ENSP00000360090:S18L	ENSP00000360090:S18L	S	+	2	0	UTP14A	128869764	0.943000	0.32029	0.993000	0.49108	0.973000	0.67179	0.025000	0.13577	-0.060000	0.13132	0.422000	0.28245	TCA	UTP14A	-	NULL		0.428	UTP14A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UTP14A	HGNC	protein_coding	OTTHUMT00000058221.1	C	NM_006649		129042083	+1	no_errors	ENST00000371051	ensembl	human	known	70_37	missense	SNP	0.771	T
VGLL3	389136	genome.wustl.edu	37	3	87018250	87018250	+	Missense_Mutation	SNP	G	G	A	rs200777627		TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr3:87018250G>A	ENST00000398399.2	-	3	790	c.427C>T	c.(427-429)Cgg>Tgg	p.R143W	VGLL3_ENST00000383698.3_Missense_Mutation_p.R143W	NM_016206.2	NP_057290.2			vestigial-like family member 3											NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		AAACTATTCCGCTGGCTTGAG	0.478																																																	0													76.0	76.0	76.0					3																	87018250		1899	4127	6026	SO:0001583	missense	389136			AF099505	CCDS43110.1	3p12.1	2014-03-03	2014-03-03		ENSG00000206538	ENSG00000206538			24327	protein-coding gene	gene with protein product		609980	"""vestigial like 3 (Drosophila)"""			12376544	Standard	NM_016206		Approved	VGL-3	uc003dqn.3	A8MV65	OTTHUMG00000158984	ENST00000398399.2:c.427C>T	3.37:g.87018250G>A	ENSP00000381436:p.Arg143Trp	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Vg_Tdu,smart_TDU_repeat	p.R143W	ENST00000398399.2	37	c.427	CCDS43110.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.64|15.64	2.894568|2.894568	0.52121|0.52121	.|.	.|.	ENSG00000206538|ENSG00000206538	ENST00000494229|ENST00000398399;ENST00000383698	.|T;T	.|0.53423	.|0.62;0.64	5.88|5.88	-1.64|-1.64	0.08318|0.08318	.|.	.|0.211546	.|0.38837	.|N	.|0.001556	T|T	0.64768|0.64768	0.2628|0.2628	M|M	0.74881|0.74881	2.28|2.28	0.35191|0.35191	D|D	0.773388|0.773388	.|D	.|0.89917	.|1.0	.|D	.|0.63877	.|0.919	T|T	0.76383|0.76383	-0.2979|-0.2979	5|10	.|0.51188	.|T	.|0.08	-11.62|-11.62	19.4252|19.4252	0.94739|0.94739	0.0:0.0:0.1594:0.8406|0.0:0.0:0.1594:0.8406	.|.	.|143	.|A8MV65	.|VGLL3_HUMAN	V|W	76|143	.|ENSP00000381436:R143W;ENSP00000373199:R143W	.|ENSP00000373199:R143W	A|R	-|-	2|1	0|2	VGLL3|VGLL3	87100940|87100940	0.989000|0.989000	0.36119|0.36119	0.908000|0.908000	0.35775|0.35775	0.570000|0.570000	0.35934|0.35934	0.470000|0.470000	0.22084|0.22084	-0.169000|-0.169000	0.10834|0.10834	-1.089000|-1.089000	0.02181|0.02181	GCG|CGG	VGLL3	-	NULL		0.478	VGLL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VGLL3	HGNC	protein_coding	OTTHUMT00000352805.1	G	NM_016206		87018250	-1	no_errors	ENST00000398399	ensembl	human	known	70_37	missense	SNP	0.976	A
VWCE	220001	genome.wustl.edu	37	11	61026536	61026536	+	Missense_Mutation	SNP	C	C	T	rs141851975	byFrequency	TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr11:61026536C>T	ENST00000335613.5	-	20	2865	c.2479G>A	c.(2479-2481)Gct>Act	p.A827T	VWCE_ENST00000535710.1_Missense_Mutation_p.A292T	NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	827						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						AGCCCCAAAGCGAGTGAGTGT	0.592																																																	0								C	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	51.0	55.0	54.0		2479	-8.0	0.0	11	dbSNP_134	54	3,8595	3.0+/-9.4	0,3,4296	yes	missense	VWCE	NM_152718.2	58	0,4,6498	TT,TC,CC		0.0349,0.0227,0.0308	benign	827/956	61026536	4,13000	2203	4299	6502	SO:0001583	missense	220001			AK056571	CCDS8002.1	11q12.2	2006-08-04			ENSG00000167992	ENSG00000167992			26487	protein-coding gene	gene with protein product		611115				12869306	Standard	NM_152718		Approved	URG11, FLJ32009, VWC1	uc001nra.3	Q96DN2	OTTHUMG00000168208	ENST00000335613.5:c.2479G>A	11.37:g.61026536C>T	ENSP00000334186:p.Ala827Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	A5PKV0|Q7Z7L6|Q86WK8	Missense_Mutation	SNP	pfam_VWF_C,pfam_EGF-like_Ca-bd,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_VWF_C,smart_VWC_out,pfscan_EG-like_dom,pfscan_VWF_C	p.A827T	ENST00000335613.5	37	c.2479	CCDS8002.1	11	.	.	.	.	.	.	.	.	.	.	C	2.968	-0.213117	0.06140	2.27E-4	3.49E-4	ENSG00000167992	ENST00000335613;ENST00000535710	T;T	0.68765	-0.35;3.53	4.31	-7.97	0.01139	.	1.852490	0.03201	N	0.174838	T	0.37625	0.1010	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.35051	-0.9804	10	0.09084	T	0.74	.	2.2645	0.04075	0.3735:0.3127:0.2091:0.1047	.	827	Q96DN2	VWCE_HUMAN	T	827;292	ENSP00000334186:A827T;ENSP00000442570:A292T	ENSP00000334186:A827T	A	-	1	0	VWCE	60783112	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.859000	0.04277	-2.055000	0.00899	-2.068000	0.00393	GCT	VWCE	-	NULL		0.592	VWCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VWCE	HGNC	protein_coding	OTTHUMT00000398811.1	C	NM_152718		61026536	-1	no_errors	ENST00000335613	ensembl	human	known	70_37	missense	SNP	0.000	T
CFAP43	80217	genome.wustl.edu	37	10	105920872	105920872	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr10:105920872C>T	ENST00000357060.3	-	27	3578	c.3463G>A	c.(3463-3465)Gaa>Aaa	p.E1155K	WDR96_ENST00000428666.1_Missense_Mutation_p.E1156K	NM_025145.5	NP_079421.5														NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CTTTCTTCTTCAGTCCACACA	0.328																																																	0													107.0	97.0	100.0					10																	105920872		2203	4299	6502	SO:0001583	missense	80217																														ENST00000357060.3:c.3463G>A	10.37:g.105920872C>T	ENSP00000349568:p.Glu1155Lys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	superfamily_WD40_repeat_dom,superfamily_Quino_amine_DH_bsu	p.E1155K	ENST00000357060.3	37	c.3463	CCDS31281.1	10	.	.	.	.	.	.	.	.	.	.	C	29.4	5.006135	0.93287	.	.	ENSG00000197748	ENST00000357060;ENST00000428666	T;T	0.19394	2.2;2.15	5.69	5.69	0.88448	.	0.056725	0.64402	D	0.000001	T	0.48554	0.1506	M	0.72624	2.21	0.43761	D	0.99627	D;D	0.89917	0.991;1.0	D;D	0.76575	0.937;0.988	T	0.38779	-0.9645	10	0.52906	T	0.07	.	19.4031	0.94639	0.0:1.0:0.0:0.0	.	1156;1155	G5E9L1;Q8NDM7	.;WDR96_HUMAN	K	1155;1156	ENSP00000349568:E1155K;ENSP00000400289:E1156K	ENSP00000349568:E1155K	E	-	1	0	WDR96	105910862	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	6.100000	0.71473	2.671000	0.90904	0.655000	0.94253	GAA	WDR96	-	NULL		0.328	WDR96-201	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR96	HGNC	protein_coding		C			105920872	-1	no_errors	ENST00000357060	ensembl	human	known	70_37	missense	SNP	1.000	T
WFDC2	10406	genome.wustl.edu	37	20	44099101	44099101	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr20:44099101C>T	ENST00000372676.3	+	2	228	c.152C>T	c.(151-153)tCg>tTg	p.S51L	WFDC2_ENST00000217425.5_Missense_Mutation_p.S51L|WFDC2_ENST00000339946.3_Intron|AL031663.1_ENST00000599747.1_Intron	NM_006103.3	NP_006094.3	Q14508	WFDC2_HUMAN	WAP four-disulfide core domain 2	51	WAP 1. {ECO:0000255|PROSITE- ProRule:PRU00722}.				negative regulation of endopeptidase activity (GO:0010951)|proteolysis (GO:0006508)|spermatogenesis (GO:0007283)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	aspartic-type endopeptidase inhibitor activity (GO:0019828)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			lung(1)	1		Myeloproliferative disorder(115;0.0122)				GAGTGCGTCTCGGACAGCGAA	0.667																																																	0													33.0	27.0	29.0					20																	44099101		2199	4298	6497	SO:0001583	missense	10406			X63187	CCDS35501.1	20q13.12	2013-01-21			ENSG00000101443	ENSG00000101443		"""WAP four-disulfide core domain containing"""	15939	protein-coding gene	gene with protein product	"""epididymal protein 4"""					1686187, 10570965	Standard	NM_006103		Approved	HE4, WAP5, dJ461P17.6, EDDM4	uc002xoo.3	Q14508	OTTHUMG00000032594	ENST00000372676.3:c.152C>T	20.37:g.44099101C>T	ENSP00000361761:p.Ser51Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A2A2A5|A2A2A6|A6PVD5|Q6IB27|Q8WXV9|Q8WXW0|Q8WXW1|Q8WXW2|Q96KJ1	Missense_Mutation	SNP	pfam_Whey_acidic_protein_4-diS_core,superfamily_Whey_acidic_protein_4-diS_core,smart_Whey_acidic_protein_4-diS_core,prints_4-disulphide_core	p.S51L	ENST00000372676.3	37	c.152	CCDS35501.1	20	.	.	.	.	.	.	.	.	.	.	C	10.72	1.428646	0.25726	.	.	ENSG00000101443	ENST00000372676;ENST00000217425	T;T	0.73681	-0.77;-0.77	4.58	2.62	0.31277	Whey acidic protein, 4-disulphide core (5);4-disulphide core (1);	0.524510	0.17661	N	0.166312	T	0.60143	0.2246	L	0.59967	1.855	0.20489	N	0.999896	P	0.35411	0.5	B	0.27608	0.081	T	0.45205	-0.9277	10	0.10636	T	0.68	-4.8997	6.5349	0.22348	0.0:0.7676:0.0:0.2324	.	51	Q14508	WFDC2_HUMAN	L	51	ENSP00000361761:S51L;ENSP00000217425:S51L	ENSP00000217425:S51L	S	+	2	0	WFDC2	43532515	0.003000	0.15002	0.001000	0.08648	0.025000	0.11179	0.895000	0.28363	0.360000	0.24265	0.655000	0.94253	TCG	WFDC2	-	pfam_Whey_acidic_protein_4-diS_core,superfamily_Whey_acidic_protein_4-diS_core,smart_Whey_acidic_protein_4-diS_core,prints_4-disulphide_core		0.667	WFDC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	WFDC2	HGNC	protein_coding	OTTHUMT00000079476.3	C			44099101	+1	no_errors	ENST00000372676	ensembl	human	known	70_37	missense	SNP	0.004	T
XPNPEP2	7512	genome.wustl.edu	37	X	128876102	128876102	+	Missense_Mutation	SNP	C	C	A			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chrX:128876102C>A	ENST00000371106.3	+	2	260	c.68C>A	c.(67-69)aCa>aAa	p.T23K	XPNPEP2_ENST00000371105.3_Missense_Mutation_p.T23K	NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound	23						anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						TGGGGCCACACAAAGCCAGTG	0.637																																																	0													54.0	48.0	50.0					X																	128876102		2203	4300	6503	SO:0001583	missense	7512			U90724	CCDS14613.1	Xq25	2008-02-05			ENSG00000122121	ENSG00000122121	3.4.11.9		12823	protein-coding gene	gene with protein product		300145				9375790, 9628831	Standard	NM_003399		Approved		uc004eut.1	O43895	OTTHUMG00000022373	ENST00000371106.3:c.68C>A	X.37:g.128876102C>A	ENSP00000360147:p.Thr23Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A0AV16|O75994	Missense_Mutation	SNP	pfam_Pept_M24_structural-domain,pfam_Creatinase,superfamily_Pept_M24_structural-domain	p.T23K	ENST00000371106.3	37	c.68	CCDS14613.1	X	.	.	.	.	.	.	.	.	.	.	C	8.740	0.918736	0.17982	.	.	ENSG00000122121	ENST00000371105;ENST00000371106	T	0.73681	-0.77	5.33	4.44	0.53790	.	0.517294	0.21847	N	0.068230	T	0.54775	0.1879	N	0.08118	0	0.09310	N	1	B;B	0.15930	0.015;0.005	B;B	0.16289	0.015;0.006	T	0.51949	-0.8640	10	0.72032	D	0.01	-9.304	10.329	0.43812	0.1965:0.8035:0.0:0.0	.	23;23	B4DV70;O43895	.;XPP2_HUMAN	K	23	ENSP00000360147:T23K	ENSP00000360146:T23K	T	+	2	0	XPNPEP2	128703783	0.994000	0.37717	0.005000	0.12908	0.133000	0.20885	3.589000	0.53972	1.075000	0.40932	0.583000	0.79449	ACA	XPNPEP2	-	NULL		0.637	XPNPEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPNPEP2	HGNC	protein_coding	OTTHUMT00000058210.1	C	NM_003399		128876102	+1	no_errors	ENST00000371106	ensembl	human	known	70_37	missense	SNP	0.057	A
XRN2	22803	genome.wustl.edu	37	20	21328885	21328885	+	Silent	SNP	G	G	A	rs138790989		TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr20:21328885G>A	ENST00000377191.3	+	18	1862	c.1767G>A	c.(1765-1767)acG>acA	p.T589T	XRN2_ENST00000539513.1_Silent_p.T535T|XRN2_ENST00000430571.2_Silent_p.T513T	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	589					cell growth (GO:0016049)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA catabolic process (GO:0006401)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|RNA processing (GO:0006396)|spermatogenesis (GO:0007283)	aggresome (GO:0016235)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-3' exoribonuclease activity (GO:0004534)|nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						AGAAGGGTACGAAACCGGTAA	0.343																																																	0								G		1,4405	2.1+/-5.4	0,1,2202	102.0	97.0	99.0		1767	-5.1	1.0	20	dbSNP_134	99	0,8600		0,0,4300	no	coding-synonymous	XRN2	NM_012255.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		589/951	21328885	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	22803			AF064257	CCDS13144.1	20p11.2-p11.1	2011-09-12			ENSG00000088930	ENSG00000088930	3.1.13.-		12836	protein-coding gene	gene with protein product		608851				10409438	Standard	NM_012255		Approved		uc002wsf.1	Q9H0D6	OTTHUMG00000032025	ENST00000377191.3:c.1767G>A	20.37:g.21328885G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q3L8N4|Q6KGZ9|Q9BQL1|Q9NTW0|Q9NXS6|Q9UL53	Silent	SNP	pfam_Put_53exo,superfamily_Znf_CCHC,pirsf_5_3_exoribonuclease_2	p.T589	ENST00000377191.3	37	c.1767	CCDS13144.1	20																																																																																			XRN2	-	pirsf_5_3_exoribonuclease_2		0.343	XRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XRN2	HGNC	protein_coding	OTTHUMT00000078273.2	G	NM_012255		21328885	+1	no_errors	ENST00000377191	ensembl	human	known	70_37	silent	SNP	0.692	A
YIPF7	285525	genome.wustl.edu	37	4	44631497	44631497	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr4:44631497C>T	ENST00000332990.5	-	4	437	c.421G>A	c.(421-423)Gat>Aat	p.D141N	YIPF7_ENST00000415895.4_Missense_Mutation_p.D117N	NM_182592.2	NP_872398.2	Q8N8F6	YIPF7_HUMAN	Yip1 domain family, member 7	141						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(1)	12						ATGCTGCCATCTACTGGCTTC	0.403																																																	0													79.0	85.0	83.0					4																	44631497		1883	4109	5992	SO:0001583	missense	285525			AK096895	CCDS54766.1	4p13	2008-08-07			ENSG00000177752	ENSG00000177752		"""Yip1 domain family"""	26825	protein-coding gene	gene with protein product							Standard	NM_182592		Approved	FLJ39576, FinGER9	uc021xnx.1	Q8N8F6	OTTHUMG00000160467	ENST00000332990.5:c.421G>A	4.37:g.44631497C>T	ENSP00000332772:p.Asp141Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q3SY21|Q3SY22	Missense_Mutation	SNP	pfam_Yip1	p.D141N	ENST00000332990.5	37	c.421	CCDS54766.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.555323|5.555323	0.96514|0.96514	.|.	.|.	ENSG00000177752|ENSG00000177752	ENST00000332990|ENST00000415895	T|.	0.34667|.	1.35|.	5.17|5.17	5.17|5.17	0.71159|0.71159	Yip1 domain (1);|.	0.107759|.	0.64402|.	D|.	0.000009|.	T|T	0.71745|0.71745	0.3376|0.3376	L|L	0.56396|0.56396	1.775|1.775	0.58432|0.58432	D|D	0.999999|0.999999	P|.	0.50272|.	0.933|.	P|.	0.58391|.	0.838|.	T|T	0.68887|0.68887	-0.5290|-0.5290	10|5	0.38643|.	T|.	0.18|.	-5.3167|-5.3167	17.8311|17.8311	0.88683|0.88683	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	141|.	Q8N8F6|.	YIPF7_HUMAN|.	N|K	141|117	ENSP00000332772:D141N|.	ENSP00000332772:D141N|.	D|R	-|-	1|2	0|0	YIPF7|YIPF7	44326254|44326254	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.957000|0.957000	0.61999|0.61999	7.601000|7.601000	0.82783|0.82783	2.678000|2.678000	0.91216|0.91216	0.484000|0.484000	0.47621|0.47621	GAT|AGA	YIPF7	-	pfam_Yip1		0.403	YIPF7-201	KNOWN	basic|CCDS	protein_coding	YIPF7	HGNC	protein_coding		C	NM_182592		44631497	-1	no_errors	ENST00000332990	ensembl	human	known	70_37	missense	SNP	1.000	T
ZFHX3	463	genome.wustl.edu	37	16	72984827	72984827	+	Silent	SNP	G	G	A	rs141768802	byFrequency	TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr16:72984827G>A	ENST00000268489.5	-	3	3429	c.2757C>T	c.(2755-2757)ggC>ggT	p.G919G	ZFHX3_ENST00000397992.5_Silent_p.G5G	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	919					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CCAGCTGCCCGCCCCCGAGCC	0.622																																																	0								G	,	1,4395	2.1+/-5.4	0,1,2197	49.0	47.0	48.0		15,2757	2.0	1.0	16	dbSNP_134	48	0,8600	1.2+/-3.3	0,0,4300	no	coding-synonymous,coding-synonymous	ZFHX3	NM_001164766.1,NM_006885.3	,	0,1,6497	AA,AG,GG		0.0,0.0227,0.0077	,	5/2790,919/3704	72984827	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	463			D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.2757C>T	16.37:g.72984827G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DWS8|O15101|Q13719	Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.G919	ENST00000268489.5	37	c.2757	CCDS10908.1	16																																																																																			ZFHX3	-	NULL		0.622	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFHX3	HGNC	protein_coding	OTTHUMT00000269008.1	G	NM_006885		72984827	-1	no_errors	ENST00000268489	ensembl	human	known	70_37	silent	SNP	1.000	A
ZIC1	7545	genome.wustl.edu	37	3	147128760	147128760	+	Silent	SNP	C	C	T			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr3:147128760C>T	ENST00000282928.4	+	1	1590	c.861C>T	c.(859-861)taC>taT	p.Y287Y		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	287					adult walking behavior (GO:0007628)|brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|pattern specification process (GO:0007389)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord development (GO:0021510)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						AAGCCAAATACAAACTGGTTA	0.592																																																	0													114.0	115.0	115.0					3																	147128760		2203	4300	6503	SO:0001819	synonymous_variant	7545			D76435	CCDS3136.1	3q24	2013-01-08	2011-05-19		ENSG00000152977	ENSG00000152977		"""Zinc fingers, C2H2-type"""	12872	protein-coding gene	gene with protein product		600470	"""Zic family member 1 (odd-paired Drosophila homolog)"", ""Zic family member 1 (odd-paired homolog, Drosophila)"""			8542595	Standard	NM_003412		Approved	ZIC, ZNF201	uc003ewe.3	Q15915	OTTHUMG00000159456	ENST00000282928.4:c.861C>T	3.37:g.147128760C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q2M3N1	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Y287	ENST00000282928.4	37	c.861	CCDS3136.1	3																																																																																			ZIC1	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.592	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZIC1	HGNC	protein_coding	OTTHUMT00000355497.1	C	NM_003412		147128760	+1	no_errors	ENST00000282928	ensembl	human	known	70_37	silent	SNP	1.000	T
ZNF208	7757	genome.wustl.edu	37	19	22157310	22157310	+	Missense_Mutation	SNP	T	T	C			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr19:22157310T>C	ENST00000397126.4	-	4	674	c.526A>G	c.(526-528)Aaa>Gaa	p.K176E	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	176					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				ACGTATTCTTTACATTGCAAA	0.328																																																	0													104.0	100.0	101.0					19																	22157310		2038	4224	6262	SO:0001583	missense	7757			BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.526A>G	19.37:g.22157310T>C	ENSP00000380315:p.Lys176Glu	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K176E	ENST00000397126.4	37	c.526	CCDS54240.1	19	.	.	.	.	.	.	.	.	.	.	T	0.218	-1.031210	0.02029	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.14516	2.5	1.62	-1.17	0.09648	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03915	0.0110	.	.	.	0.09310	N	1	P	0.36909	0.573	B	0.27887	0.084	T	0.34625	-0.9821	8	0.08179	T	0.78	.	3.0389	0.06132	0.0:0.362:0.2471:0.3909	.	176	O43345	ZN208_HUMAN	E	176	ENSP00000380315:K176E	ENSP00000380315:K176E	K	-	1	0	ZNF208	21949150	0.000000	0.05858	0.001000	0.08648	0.564000	0.35744	-3.282000	0.00528	-0.561000	0.06094	0.248000	0.18094	AAA	ZNF208	-	NULL		0.328	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF208	HGNC	protein_coding	OTTHUMT00000464302.1	T	NM_007153		22157310	-1	no_errors	ENST00000397126	ensembl	human	novel	70_37	missense	SNP	0.031	C
ZNF335	63925	genome.wustl.edu	37	20	44596160	44596160	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr20:44596160C>T	ENST00000322927.2	-	6	1028	c.928G>A	c.(928-930)Gac>Aac	p.D310N	ZNF335_ENST00000426788.1_Missense_Mutation_p.D155N|ZNF335_ENST00000494955.1_5'UTR	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	310					brain development (GO:0007420)|brain morphogenesis (GO:0048854)|cerebral cortex neuron differentiation (GO:0021895)|histone H3-K4 trimethylation (GO:0080182)|in utero embryonic development (GO:0001701)|neuron projection morphogenesis (GO:0048812)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of neurogenesis (GO:0050769)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				GCTCCAGCGTCTACAATGTCA	0.537																																																	0													237.0	191.0	207.0					20																	44596160		2203	4300	6503	SO:0001583	missense	63925			AK026157	CCDS13389.1	20q13.12	2011-09-12			ENSG00000198026	ENSG00000198026		"""Zinc fingers, C2H2-type"""	15807	protein-coding gene	gene with protein product	"""NRC-interacting factor 1"""	610827				12215545, 19131338	Standard	NM_022095		Approved	bA465L10.2, NIF-1	uc002xqw.3	Q9H4Z2	OTTHUMG00000032637	ENST00000322927.2:c.928G>A	20.37:g.44596160C>T	ENSP00000325326:p.Asp310Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DLG7|Q548D0|Q9H684	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D310N	ENST00000322927.2	37	c.928	CCDS13389.1	20	.	.	.	.	.	.	.	.	.	.	c	20.3	3.959333	0.74016	.	.	ENSG00000198026	ENST00000322927;ENST00000426788	T;T	0.23754	2.05;1.89	4.68	4.68	0.58851	.	0.000000	0.85682	D	0.000000	T	0.39989	0.1099	L	0.32530	0.975	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.06534	-1.0821	10	0.30854	T	0.27	-21.0391	17.1352	0.86737	0.0:1.0:0.0:0.0	.	155;310	Q9H4Z2-2;Q9H4Z2	.;ZN335_HUMAN	N	310;155	ENSP00000325326:D310N;ENSP00000397098:D155N	ENSP00000325326:D310N	D	-	1	0	ZNF335	44029567	1.000000	0.71417	0.195000	0.23364	0.221000	0.24807	6.691000	0.74573	2.582000	0.87167	0.556000	0.70494	GAC	ZNF335	-	NULL		0.537	ZNF335-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF335	HGNC	protein_coding	OTTHUMT00000079553.1	C	NM_022095		44596160	-1	no_errors	ENST00000322927	ensembl	human	known	70_37	missense	SNP	1.000	T
ZNF480	147657	genome.wustl.edu	37	19	52825335	52825335	+	Nonsense_Mutation	SNP	C	C	T			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr19:52825335C>T	ENST00000595962.1	+	5	898	c.832C>T	c.(832-834)Caa>Taa	p.Q278*	CTD-2525I3.6_ENST00000594379.1_RNA|ZNF480_ENST00000490272.1_3'UTR|ZNF480_ENST00000334564.7_Nonsense_Mutation_p.Q235*|ZNF480_ENST00000335090.6_Nonsense_Mutation_p.Q201*	NM_144684.2	NP_653285.2	Q8WV37	ZN480_HUMAN	zinc finger protein 480	278					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		TGCACGACATCAAAGAATTCA	0.358																																																	0													39.0	42.0	41.0					19																	52825335		2202	4300	6502	SO:0001587	stop_gained	147657			AY512662	CCDS12850.2, CCDS74437.1	19q13.41	2013-01-08			ENSG00000198464	ENSG00000198464		"""Zinc fingers, C2H2-type"", ""-"""	23305	protein-coding gene	gene with protein product		613910				15219843	Standard	XM_005258525		Approved	MGC32104	uc010ydl.2	Q8WV37	OTTHUMG00000157507	ENST00000595962.1:c.832C>T	19.37:g.52825335C>T	ENSP00000471754:p.Gln278*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5JPG9|Q6P0Q4|Q8N1M5	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q278*	ENST00000595962.1	37	c.832	CCDS12850.2	19	.	.	.	.	.	.	.	.	.	.	C	12.55	1.971595	0.34754	.	.	ENSG00000198464	ENST00000468240;ENST00000334564;ENST00000335090	.	.	.	2.4	-1.91	0.07641	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	1.3337	0.02140	0.1929:0.3072:0.3502:0.1497	.	.	.	.	X	278;235;201	.	ENSP00000334164:Q235X	Q	+	1	0	ZNF480	57517147	0.000000	0.05858	0.001000	0.08648	0.107000	0.19398	-0.569000	0.05902	-0.059000	0.13154	0.467000	0.42956	CAA	ZNF480	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.358	ZNF480-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF480	HGNC	protein_coding	OTTHUMT00000349001.3	C	NM_144684		52825335	+1	no_errors	ENST00000468240	ensembl	human	known	70_37	nonsense	SNP	0.007	T
ZNF619	285267	genome.wustl.edu	37	3	40529636	40529636	+	Missense_Mutation	SNP	C	C	A			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr3:40529636C>A	ENST00000314686.5	+	6	1992	c.1587C>A	c.(1585-1587)aaC>aaA	p.N529K	ZNF619_ENST00000447116.2_Missense_Mutation_p.N585K|ZNF619_ENST00000520737.1_3'UTR|ZNF619_ENST00000432264.2_Missense_Mutation_p.N545K|ZNF619_ENST00000522736.1_Missense_Mutation_p.N536K|ZNF619_ENST00000456778.1_Missense_Mutation_p.N501K|ZNF619_ENST00000521353.1_Missense_Mutation_p.N585K|ZNF619_ENST00000429348.2_Missense_Mutation_p.N545K			Q8N2I2	ZN619_HUMAN	zinc finger protein 619	529					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		AAAAGGCCAACCCTTCACCTG	0.522																																																	0													130.0	122.0	125.0					3																	40529636		2203	4300	6503	SO:0001583	missense	285267			AK075245	CCDS46801.1, CCDS46802.1, CCDS46803.1	3p21.33	2013-01-08			ENSG00000177873	ENSG00000177873		"""Zinc fingers, C2H2-type"", ""-"""	26910	protein-coding gene	gene with protein product							Standard	NM_001145083		Approved	FLJ90764	uc011azb.2	Q8N2I2	OTTHUMG00000131391	ENST00000314686.5:c.1587C>A	3.37:g.40529636C>A	ENSP00000322529:p.Asn529Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B4E271|C9JRN5|D4PHA2|E9PCD9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.N585K	ENST00000314686.5	37	c.1755		3	.	.	.	.	.	.	.	.	.	.	C	4.791	0.147133	0.09134	.	.	ENSG00000177873	ENST00000314686;ENST00000447116;ENST00000429348;ENST00000456778;ENST00000442066;ENST00000522736;ENST00000521353;ENST00000432264	T;T;T;T;T;T;T	0.05580	3.42;3.5;3.67;3.45;3.42;3.5;3.67	1.93	-3.86	0.04230	.	.	.	.	.	T	0.02533	0.0077	N	0.08118	0	0.09310	N	1	B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0;0.0	T	0.45848	-0.9233	9	0.21540	T	0.41	.	4.4749	0.11731	0.0:0.462:0.228:0.31	.	501;545;585;487;536;529	B4E271;C9JRN5;E9PCD9;B7Z9B3;Q17RW3;Q8N2I2	.;.;.;.;.;ZN619_HUMAN	K	529;585;545;501;166;536;585;545	ENSP00000322529:N529K;ENSP00000411132:N585K;ENSP00000398024:N545K;ENSP00000397232:N501K;ENSP00000428004:N536K;ENSP00000430705:N585K;ENSP00000388710:N545K	ENSP00000322529:N529K	N	+	3	2	ZNF619	40504640	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.323000	0.01117	-1.137000	0.02888	-2.010000	0.00438	AAC	ZNF619	-	NULL		0.522	ZNF619-001	KNOWN	basic	protein_coding	ZNF619	HGNC	protein_coding	OTTHUMT00000254180.2	C	NM_173656		40529636	+1	no_errors	ENST00000447116	ensembl	human	known	70_37	missense	SNP	0.003	A
ZNF831	128611	genome.wustl.edu	37	20	57769075	57769075	+	Missense_Mutation	SNP	G	G	T			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr20:57769075G>T	ENST00000371030.2	+	1	3001	c.3001G>T	c.(3001-3003)Gcg>Tcg	p.A1001S		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1001							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CCCAGGTGAGGCGGACAGCAT	0.642																																																	0													38.0	40.0	39.0					20																	57769075		1948	4142	6090	SO:0001583	missense	128611			AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.3001G>T	20.37:g.57769075G>T	ENSP00000360069:p.Ala1001Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5TDR4|Q8TCP0	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A1001S	ENST00000371030.2	37	c.3001	CCDS42894.1	20	.	.	.	.	.	.	.	.	.	.	G	10.46	1.356934	0.24598	.	.	ENSG00000124203	ENST00000371030	T	0.05447	3.44	4.56	2.43	0.29744	.	0.924705	0.09105	N	0.847868	T	0.04272	0.0118	N	0.19112	0.55	0.09310	N	1	B	0.24132	0.098	B	0.19666	0.026	T	0.44757	-0.9307	10	0.22109	T	0.4	-2.4201	6.0607	0.19837	0.1:0.0:0.7136:0.1864	.	1001	Q5JPB2	ZN831_HUMAN	S	1001	ENSP00000360069:A1001S	ENSP00000360069:A1001S	A	+	1	0	ZNF831	57202470	0.001000	0.12720	0.001000	0.08648	0.020000	0.10135	0.366000	0.20365	1.049000	0.40321	0.467000	0.42956	GCG	ZNF831	-	NULL		0.642	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF831	HGNC	protein_coding	OTTHUMT00000079916.2	G	NM_178457		57769075	+1	no_errors	ENST00000371030	ensembl	human	novel	70_37	missense	SNP	0.000	T
