#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_EVS_AA	i_EVS_All	i_EVS_EA	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_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	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_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	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_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ADORA2A	135	genome.wustl.edu	37	22	24837011	24837012	+	Missense_Mutation	DNP	GC	GC	TT			TCGA-D8-A1JP-01A-11D-A13L-09	TCGA-D8-A1JP-10A-01D-A13O-09	G|C	G|C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1e21a355-0cb6-4a43-b134-50ff88dacf92	6eeba22a-d922-4fc8-abc1-ae8bc9eee928	g.chr22:24837011_24837012GC>TT	ENST00000337539.7	+	3	1252_1253	c.793_794GC>TT	c.(793-795)GCc>TTc	p.A265F	SPECC1L-ADORA2A_ENST00000358654.2_3'UTR|ADORA2A-AS1_ENST00000326341.4_RNA|ADORA2A-AS1_ENST00000543438.1_RNA|ADORA2A-AS1_ENST00000427813.2_RNA|ADORA2A_ENST00000496497.1_3'UTR	NM_000675.4|NM_001278497.1|NM_001278498.1|NM_001278499.1|NM_001278500.1	NP_000666.2|NP_001265426.1|NP_001265427.1|NP_001265428.1|NP_001265429.1	P29274	AA2AR_HUMAN	adenosine A2a receptor	265	Agonist binding.				activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|apoptotic process (GO:0006915)|blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cAMP biosynthetic process (GO:0006171)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|central nervous system development (GO:0007417)|inflammatory response (GO:0006954)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phagocytosis (GO:0006909)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|sensory perception (GO:0007600)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|G-protein coupled adenosine receptor activity (GO:0001609)|identical protein binding (GO:0042802)	p.A265T(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|skin(1)	21	Colorectal(2;0.196)				Adenosine(DB00640)|Caffeine(DB00201)|Defibrotide(DB04932)|Dyphylline(DB00651)|Enprofylline(DB00824)|Mefloquine(DB00358)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Regadenoson(DB06213)|Theobromine(DB01412)|Theophylline(DB00277)	CTGCAGCCACGCCCCTCTCTGG	0.579																																						dbGAP											1	Substitution - Missense(1)	lung(1)																																								-	-	-	SO:0001583	missense	0			X68486	CCDS13826.1	22q11.23	2012-08-08			ENSG00000128271	ENSG00000128271		"""GPCR / Class A : Adenosine receptors"""	263	protein-coding gene	gene with protein product		102776		ADORA2		1662665, 2541503	Standard	NM_001278497		Approved	RDC8	uc002zzy.4	P29274	OTTHUMG00000150761	Exception_encountered	22.37:g.24837011_24837012delinsTT	ENSP00000336630:p.Ala265Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R7E0	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Adeno_A2A_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Adenosn_rcpt	p.A265S|p.A265V	ENST00000337539.7	37	c.793|c.794	CCDS13826.1	22																																																																																			ADORA2A	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Adeno_A2A_rcpt	ENSG00000128271		0.579	ADORA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADORA2A	HGNC	protein_coding	OTTHUMT00000319971.2	63|62	0.00	0	G|C	NM_000675		24837011|24837012	24837011|24837012	+1	no_errors	ENST00000337539	ensembl	human	known	69_37n	missense	18	53.85	21	SNP	0.990|1.000	T
ANKLE2	23141	genome.wustl.edu	37	12	133331390	133331390	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A1JP-01A-11D-A13L-09	TCGA-D8-A1JP-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1e21a355-0cb6-4a43-b134-50ff88dacf92	6eeba22a-d922-4fc8-abc1-ae8bc9eee928	g.chr12:133331390C>A	ENST00000357997.5	-	2	600	c.511G>T	c.(511-513)Gtg>Ttg	p.V171L	ANKLE2_ENST00000539605.1_Missense_Mutation_p.V109L|ANKLE2_ENST00000337516.5_Missense_Mutation_p.V171L	NM_015114.1	NP_055929.1	Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	171					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope reassembly (GO:0007084)|negative regulation of phosphorylation (GO:0042326)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of catalytic activity (GO:0050790)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	protein phosphatase 2A binding (GO:0051721)|protein phosphatase type 2A regulator activity (GO:0008601)			NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		TTGGATGTCACAGCTTCCTCC	0.552																																						dbGAP											0													69.0	71.0	70.0					12																	133331390		1954	4143	6097	-	-	-	SO:0001583	missense	0			AB014592	CCDS41869.1	12q24.33	2013-01-11	2008-03-25	2008-03-25	ENSG00000176915	ENSG00000176915		"""Ankyrin repeat domain containing"""	29101	protein-coding gene	gene with protein product	"""LEM domain containing 7"""		"""KIAA0692"""	KIAA0692		9734811	Standard	XM_005266159		Approved	LEMD7, Lem4	uc001ukx.2	Q86XL3	OTTHUMG00000168046	ENST00000357997.5:c.511G>T	12.37:g.133331390C>A	ENSP00000350686:p.Val171Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8KAG3|B3KN97|B3KSF8|O75176|Q6P6A5|Q8TAZ9|Q96DH4	Missense_Mutation	SNP	pfam_LEM,superfamily_LEM-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Ribosomal_L9/RNase_H1_N,pfscan_LEM	p.V171L	ENST00000357997.5	37	c.511	CCDS41869.1	12	.	.	.	.	.	.	.	.	.	.	c	9.099	1.003691	0.19121	.	.	ENSG00000176915	ENST00000539605;ENST00000357997;ENST00000337516	T;T;T	0.31247	1.98;1.96;1.5	5.62	-6.42	0.01932	.	0.892392	0.09917	N	0.739025	T	0.13628	0.0330	L	0.28504	0.86	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.09377	0.004;0.004	T	0.28996	-1.0026	10	0.22109	T	0.4	-5.2458	1.2135	0.01910	0.1846:0.2325:0.3112:0.2717	.	171;171	Q86XL3-2;Q86XL3	.;ANKL2_HUMAN	L	109;171;171	ENSP00000446268:V109L;ENSP00000350686:V171L;ENSP00000337651:V171L	ENSP00000337651:V171L	V	-	1	0	ANKLE2	131841463	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	-0.747000	0.04823	-0.949000	0.03663	-0.155000	0.13514	GTG	ANKLE2	-	NULL	ENSG00000176915		0.552	ANKLE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKLE2	HGNC	protein_coding	OTTHUMT00000397712.1	35	0.00	0	C			133331390	133331390	-1	no_errors	ENST00000357997	ensembl	human	known	69_37n	missense	11	45.00	9	SNP	0.000	A
ANKRD27	84079	genome.wustl.edu	37	19	33134043	33134043	+	Silent	SNP	C	C	A			TCGA-D8-A1JP-01A-11D-A13L-09	TCGA-D8-A1JP-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1e21a355-0cb6-4a43-b134-50ff88dacf92	6eeba22a-d922-4fc8-abc1-ae8bc9eee928	g.chr19:33134043C>A	ENST00000306065.4	-	9	926	c.768G>T	c.(766-768)gtG>gtT	p.V256V	ANKRD27_ENST00000587352.1_Silent_p.V256V	NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	256	VPS9. {ECO:0000255|PROSITE- ProRule:PRU00550}.				early endosome to late endosome transport (GO:0045022)|positive regulation of GTPase activity (GO:0043547)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|lysosome (GO:0005764)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					ACTCCGGTTTCACACCAATAT	0.498																																						dbGAP											0													120.0	123.0	122.0					19																	33134043		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK054561	CCDS32986.1	19q13.12	2013-01-10				ENSG00000105186		"""Ankyrin repeat domain containing"""	25310	protein-coding gene	gene with protein product	"""Vps9 domain and ankyrin-repeat-containing protein"""					11230166, 16525121	Standard	NM_032139		Approved	FLJ00040, DKFZp434L0718, VARP	uc002ntn.1	Q96NW4		ENST00000306065.4:c.768G>T	19.37:g.33134043C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q71MF5|Q86UC3|Q8ND80|Q9H0I4	Silent	SNP	pfam_Ankyrin_rpt,pfam_VPS9,superfamily_Ankyrin_rpt-contain_dom,smart_VPS9_subgr,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_VPS9,prints_Ankyrin_rpt	p.V256	ENST00000306065.4	37	c.768	CCDS32986.1	19																																																																																			ANKRD27	-	pfscan_VPS9	ENSG00000105186		0.498	ANKRD27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD27	HGNC	protein_coding	OTTHUMT00000450329.1	71	0.00	0	C	NM_032139		33134043	33134043	-1	no_errors	ENST00000306065	ensembl	human	known	69_37n	silent	71	36.61	41	SNP	0.993	A
ATHL1	80162	genome.wustl.edu	37	11	290850	290850	+	Missense_Mutation	SNP	C	C	G	rs377492501		TCGA-D8-A1JP-01A-11D-A13L-09	TCGA-D8-A1JP-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1e21a355-0cb6-4a43-b134-50ff88dacf92	6eeba22a-d922-4fc8-abc1-ae8bc9eee928	g.chr11:290850C>G	ENST00000409548.2	+	4	758	c.643C>G	c.(643-645)Ctc>Gtc	p.L215V	RP11-326C3.2_ENST00000533924.1_RNA|ATHL1_ENST00000409655.1_Missense_Mutation_p.L38V|RP11-326C3.2_ENST00000534742.1_RNA|RP11-326C3.2_ENST00000525217.1_RNA|ATHL1_ENST00000409479.1_Missense_Mutation_p.L215V	NM_025092.4	NP_079368.3	Q32M88	ATHL1_HUMAN	ATH1, acid trehalase-like 1 (yeast)	215					carbohydrate metabolic process (GO:0005975)		hydrolase activity, acting on glycosyl bonds (GO:0016798)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|skin(3)	17		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		TCAGGCCTGCCTCACTGAGGC	0.662																																						dbGAP											0													46.0	47.0	47.0					11																	290850		2203	4299	6502	-	-	-	SO:0001583	missense	0			AK090428	CCDS31322.2	11p15.5	2005-10-27			ENSG00000142102	ENSG00000142102			26210	protein-coding gene	gene with protein product							Standard	NM_025092		Approved	FLJ22635	uc010qvu.2	Q32M88	OTTHUMG00000153218	ENST00000409548.2:c.643C>G	11.37:g.290850C>G	ENSP00000387185:p.Leu215Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q658X8|Q8TEG9|Q9H635	Missense_Mutation	SNP	pfam_Glyco_hydro_65_M,superfamily_6-hairpin_glycosidase-like	p.L215V	ENST00000409548.2	37	c.643	CCDS31322.2	11	.	.	.	.	.	.	.	.	.	.	C	6.658	0.489910	0.12702	.	.	ENSG00000142102	ENST00000409548;ENST00000409655;ENST00000409479	.	.	.	4.39	-0.495	0.12030	Six-hairpin glycosidase-like (1);	0.957031	0.08701	N	0.906362	T	0.21062	0.0507	L	0.29908	0.895	0.09310	N	1	B;B;B	0.34015	0.105;0.021;0.435	B;B;B	0.24974	0.05;0.013;0.057	T	0.16748	-1.0392	9	0.22109	T	0.4	.	8.343	0.32254	0.0:0.3935:0.0:0.6065	.	215;215;38	Q32M88;E7EMA9;B8ZZ60	ATHL1_HUMAN;.;.	V	215;38;215	.	ENSP00000387099:L215V	L	+	1	0	ATHL1	280850	0.001000	0.12720	0.034000	0.17996	0.038000	0.13279	1.109000	0.31135	0.007000	0.14760	0.448000	0.29417	CTC	ATHL1	-	superfamily_6-hairpin_glycosidase-like	ENSG00000142102		0.662	ATHL1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	ATHL1	HGNC	protein_coding	OTTHUMT00000330164.3	12	0.00	0	C	NM_025092		290850	290850	+1	no_errors	ENST00000409548	ensembl	human	known	69_37n	missense	5	58.33	7	SNP	0.000	G
BANP	54971	genome.wustl.edu	37	16	88014716	88014716	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A1JP-01A-11D-A13L-09	TCGA-D8-A1JP-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1e21a355-0cb6-4a43-b134-50ff88dacf92	6eeba22a-d922-4fc8-abc1-ae8bc9eee928	g.chr16:88014716C>A	ENST00000393207.1	+	3	366	c.145C>A	c.(145-147)Cag>Aag	p.Q49K	BANP_ENST00000479780.2_Missense_Mutation_p.Q49K|BANP_ENST00000538234.1_Missense_Mutation_p.Q49K|BANP_ENST00000355022.4_Missense_Mutation_p.Q49K|BANP_ENST00000286122.7_Missense_Mutation_p.Q49K|BANP_ENST00000355163.5_Missense_Mutation_p.Q55K|BANP_ENST00000393208.2_Missense_Mutation_p.Q49K	NM_001173543.1	NP_001167014.1	Q8N9N5	BANP_HUMAN	BTG3 associated nuclear protein	49					cell cycle (GO:0007049)|chromatin modification (GO:0016568)|multicellular organismal development (GO:0007275)|negative regulation of protein catabolic process (GO:0042177)|protein localization to nucleus (GO:0034504)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.00551)		AATCAATTGCCAGGATCCATC	0.408																																						dbGAP											0													99.0	92.0	94.0					16																	88014716		2198	4300	6498	-	-	-	SO:0001583	missense	0			AK094158	CCDS10966.2, CCDS42215.1, CCDS54052.1, CCDS54053.1, CCDS54054.1	16q24	2012-11-22			ENSG00000172530	ENSG00000172530		"""BEN domain containing"""	13450	protein-coding gene	gene with protein product	"""BEN domain containing 1"""	611564				10940556, 10950932	Standard	NM_017869		Approved	SMARBP1, SMAR1, FLJ20538, DKFZp761H172, FLJ10177, BEND1	uc010vow.2	Q8N9N5	OTTHUMG00000137678	ENST00000393207.1:c.145C>A	16.37:g.88014716C>A	ENSP00000376902:p.Gln49Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MU25|A8MX25|B2RCF7|B4DNJ9|F5GZM0|Q96GJ7|Q9NWY1	Missense_Mutation	SNP	pfam_BEN_domain	p.Q49K	ENST00000393207.1	37	c.145	CCDS54054.1	16	.	.	.	.	.	.	.	.	.	.	C	17.58	3.423966	0.62733	.	.	ENSG00000172530	ENST00000439677;ENST00000286122;ENST00000355163;ENST00000289484;ENST00000479780;ENST00000393208;ENST00000540932;ENST00000412691;ENST00000355022;ENST00000436970;ENST00000538234;ENST00000436274;ENST00000456902;ENST00000393207	T;T;T;T;T;T;T;T;T;T;T;T	0.34275	1.37;1.37;1.37;1.37;1.37;1.37;1.37;1.37;1.37;1.37;1.37;1.37	4.56	4.56	0.56223	.	0.321135	0.31392	N	0.007737	T	0.46718	0.1407	N	0.24115	0.695	0.50171	D	0.999851	P;D;P;P;P;D	0.63880	0.865;0.98;0.458;0.947;0.593;0.993	P;D;P;D;P;D	0.75020	0.824;0.966;0.678;0.91;0.486;0.985	T	0.52283	-0.8596	10	0.66056	D	0.02	.	16.6775	0.85283	0.0:1.0:0.0:0.0	.	49;55;49;49;49;49	B4DE54;B4DNJ9;B2RCF7;Q8N9N5;Q8N9N5-2;Q8N9N5-4	.;.;.;BANP_HUMAN;.;.	K	55;49;55;49;49;49;49;49;49;49;49;49;49;49	ENSP00000411479:Q55K;ENSP00000286122:Q49K;ENSP00000347290:Q55K;ENSP00000432508:Q49K;ENSP00000376903:Q49K;ENSP00000390504:Q49K;ENSP00000347125:Q49K;ENSP00000399576:Q49K;ENSP00000444352:Q49K;ENSP00000401454:Q49K;ENSP00000410089:Q49K;ENSP00000376902:Q49K	ENSP00000286122:Q49K	Q	+	1	0	BANP	86572217	1.000000	0.71417	1.000000	0.80357	0.380000	0.30137	3.921000	0.56454	2.255000	0.74692	0.455000	0.32223	CAG	BANP	-	NULL	ENSG00000172530		0.408	BANP-002	KNOWN	basic|CCDS	protein_coding	BANP	HGNC	protein_coding	OTTHUMT00000269166.1	116	0.00	0	C	NM_017869		88014716	88014716	+1	no_errors	ENST00000286122	ensembl	human	known	69_37n	missense	62	50.40	63	SNP	1.000	A
BCL6	604	genome.wustl.edu	37	3	187447483	187447483	+	Missense_Mutation	SNP	G	G	A	rs372568524		TCGA-D8-A1JP-01A-11D-A13L-09	TCGA-D8-A1JP-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1e21a355-0cb6-4a43-b134-50ff88dacf92	6eeba22a-d922-4fc8-abc1-ae8bc9eee928	g.chr3:187447483G>A	ENST00000406870.2	-	5	1076	c.710C>T	c.(709-711)cCa>cTa	p.P237L	RP11-211G3.3_ENST00000437407.1_Intron|BCL6_ENST00000450123.2_Missense_Mutation_p.P237L|BCL6_ENST00000232014.4_Missense_Mutation_p.P237L|RP11-211G3.3_ENST00000449623.1_Intron	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	237					actin cytoskeleton organization (GO:0030036)|B cell differentiation (GO:0030183)|cell morphogenesis (GO:0000902)|cellular response to DNA damage stimulus (GO:0006974)|erythrocyte development (GO:0048821)|germinal center formation (GO:0002467)|inflammatory response (GO:0006954)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of isotype switching to IgE isotypes (GO:0048294)|negative regulation of mast cell cytokine production (GO:0032764)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cellular component movement (GO:0051272)|protein import into nucleus, translocation (GO:0000060)|regulation of germinal center formation (GO:0002634)|regulation of immune response (GO:0050776)|regulation of inflammatory response (GO:0050727)|regulation of memory T cell differentiation (GO:0043380)|regulation of Rho GTPase activity (GO:0032319)|Rho protein signal transduction (GO:0007266)|spermatogenesis (GO:0007283)|type 2 immune response (GO:0042092)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		ACCAGGGACTGGCCTGGCACT	0.582			"""T, Mis"""	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""	"""NHL, CLL"""																																	dbGAP		Dom	yes		3	3q27	604	B-cell CLL/lymphoma 6		L	0													45.0	46.0	46.0					3																	187447483		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS3289.1, CCDS46975.1	3q27	2013-01-09	2008-08-01		ENSG00000113916	ENSG00000113916		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	1001	protein-coding gene	gene with protein product		109565	"""zinc finger protein 51"""	ZNF51			Standard	NM_001130845		Approved	ZBTB27, LAZ3, BCL5, BCL6A	uc003frq.2	P41182	OTTHUMG00000156441	ENST00000406870.2:c.710C>T	3.37:g.187447483G>A	ENSP00000384371:p.Pro237Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A7E241|B8PSA7|D3DNV5	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.P237L	ENST00000406870.2	37	c.710	CCDS3289.1	3	.	.	.	.	.	.	.	.	.	.	G	5.959	0.360857	0.11296	.	.	ENSG00000113916	ENST00000406870;ENST00000232014;ENST00000450123	T;T;T	0.07688	3.17;3.17;3.17	5.61	4.73	0.59995	.	0.422646	0.28853	N	0.013923	T	0.07143	0.0181	N	0.19112	0.55	0.37933	D	0.932079	B;B	0.32573	0.008;0.376	B;B	0.30401	0.006;0.115	T	0.31194	-0.9952	10	0.54805	T	0.06	.	15.5468	0.76108	0.0:0.0:0.8615:0.1385	.	237;237	B8PSA7;P41182	.;BCL6_HUMAN	L	237	ENSP00000384371:P237L;ENSP00000232014:P237L;ENSP00000413122:P237L	ENSP00000232014:P237L	P	-	2	0	BCL6	188930177	0.998000	0.40836	0.858000	0.33744	0.028000	0.11728	2.746000	0.47467	1.492000	0.48499	0.561000	0.74099	CCA	BCL6	-	NULL	ENSG00000113916		0.582	BCL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL6	HGNC	protein_coding	OTTHUMT00000344202.1	53	0.00	0	G	NM_138931		187447483	187447483	-1	no_errors	ENST00000232014	ensembl	human	known	69_37n	missense	46	28.12	18	SNP	0.939	A
BFAR	51283	genome.wustl.edu	37	16	14748927	14748927	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JP-01A-11D-A13L-09	TCGA-D8-A1JP-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1e21a355-0cb6-4a43-b134-50ff88dacf92	6eeba22a-d922-4fc8-abc1-ae8bc9eee928	g.chr16:14748927C>G	ENST00000261658.2	+	5	920	c.643C>G	c.(643-645)Ctt>Gtt	p.L215V	BFAR_ENST00000563971.1_Missense_Mutation_p.L90V|BFAR_ENST00000426842.2_Missense_Mutation_p.L87V	NM_016561.2	NP_057645.1	Q9NZS9	BFAR_HUMAN	bifunctional apoptosis regulator	215	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	structural molecule activity (GO:0005198)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	11						CTACAGGTTGCTTTTAACTTT	0.418																																						dbGAP											0													90.0	99.0	96.0					16																	14748927		2197	4300	6497	-	-	-	SO:0001583	missense	0			AF173003	CCDS10554.1	16p13.2	2013-01-10			ENSG00000103429	ENSG00000103429		"""RING-type (C3HC4) zinc fingers"", ""Sterile alpha motif (SAM) domain containing"""	17613	protein-coding gene	gene with protein product						10716992	Standard	NM_016561		Approved	BAR, RNF47	uc002dco.3	Q9NZS9	OTTHUMG00000129848	ENST00000261658.2:c.643C>G	16.37:g.14748927C>G	ENSP00000261658:p.Leu215Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4Z9|B4DUT0|D3DUG8	Missense_Mutation	SNP	pfam_SAM_type1,pfam_Znf_C3HC4_RING-type,pfam_SAM_2,superfamily_SAM/pointed,smart_Znf_RING,smart_SAM,pfscan_SAM,pfscan_Znf_RING	p.L215V	ENST00000261658.2	37	c.643	CCDS10554.1	16	.	.	.	.	.	.	.	.	.	.	C	16.60	3.169068	0.57584	.	.	ENSG00000103429	ENST00000261658;ENST00000426842	T;T	0.54675	0.56;0.56	5.31	5.31	0.75309	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.74696	0.3750	M	0.81341	2.54	0.80722	D	1	D;D;D	0.89917	0.997;1.0;1.0	D;D;D	0.87578	0.997;0.998;0.998	T	0.76661	-0.2877	10	0.51188	T	0.08	.	17.9484	0.89045	0.0:1.0:0.0:0.0	.	87;215;215	B4DUT0;B2R9R6;Q9NZS9	.;.;BFAR_HUMAN	V	215;87	ENSP00000261658:L215V;ENSP00000400634:L87V	ENSP00000261658:L215V	L	+	1	0	BFAR	14656428	1.000000	0.71417	1.000000	0.80357	0.217000	0.24651	5.836000	0.69375	2.480000	0.83734	0.313000	0.20887	CTT	BFAR	-	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	ENSG00000103429		0.418	BFAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BFAR	HGNC	protein_coding	OTTHUMT00000252088.1	41	0.00	0	C	NM_016561		14748927	14748927	+1	no_errors	ENST00000261658	ensembl	human	known	69_37n	missense	37	35.09	20	SNP	1.000	G
BRCA2	675	genome.wustl.edu	37	13	32914385	32914385	+	Frame_Shift_Del	DEL	C	C	-	rs398122542		TCGA-D8-A1JP-01A-11D-A13L-09	TCGA-D8-A1JP-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1e21a355-0cb6-4a43-b134-50ff88dacf92	6eeba22a-d922-4fc8-abc1-ae8bc9eee928	g.chr13:32914385delC	ENST00000380152.3	+	11	6126	c.5893delC	c.(5893-5895)cttfs	p.L1965fs	BRCA2_ENST00000544455.1_Frame_Shift_Del_p.L1965fs			P51587	BRCA2_HUMAN	breast cancer 2, early onset	1965					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TATAGGGAAGCTTCATAAGTC	0.353			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	dbGAP	yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	familial breast/ovarian cancer gene 2		"""L, E"""	0													87.0	95.0	92.0					13																	32914385		2203	4299	6502	-	-	-	SO:0001589	frameshift_variant	0	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.5893delC	13.37:g.32914385delC	ENSP00000369497:p.Leu1965fs	Somatic		WXS	Illumina GAIIx	Phase_IV	O00183|O15008|Q13879|Q5TBJ7	Frame_Shift_Del	DEL	pfam_DNA_recomb/repair_BRCA2_hlx,pfam_BRCA2_repeat,pfam_BRCA2_OB_3,pfam_BRCA2_OB_1,pfam_Tower,superfamily_DNA_recomb/repair_BRCA2_hlx,superfamily_NA-bd_OB-fold-like,pirsf_DNA_recomb/repair_BRCA2,pfscan_BRCA2_repeat	p.L1965fs	ENST00000380152.3	37	c.5893	CCDS9344.1	13																																																																																			BRCA2	-	pirsf_DNA_recomb/repair_BRCA2	ENSG00000139618		0.353	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRCA2	HGNC	protein_coding	OTTHUMT00000046000.2	46	0.00	0	C	NM_000059		32914385	32914385	+1	no_errors	ENST00000380152	ensembl	human	known	69_37n	frame_shift_del	10	52.38	11	DEL	0.000	-
LMNTD2	256329	genome.wustl.edu	37	11	558890	558890	+	Frame_Shift_Del	DEL	G	G	-			TCGA-D8-A1JP-01A-11D-A13L-09	TCGA-D8-A1JP-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1e21a355-0cb6-4a43-b134-50ff88dacf92	6eeba22a-d922-4fc8-abc1-ae8bc9eee928	g.chr11:558890delG	ENST00000329451.3	-	2	186	c.124delC	c.(124-126)cacfs	p.H42fs	RASSF7_ENST00000431809.1_5'Flank|RASSF7_ENST00000397583.3_5'Flank|RP11-496I9.1_ENST00000527620.1_RNA|RASSF7_ENST00000397582.3_5'Flank|RASSF7_ENST00000454668.2_5'Flank|RASSF7_ENST00000344375.4_5'Flank|RP11-496I9.1_ENST00000527113.1_RNA	NM_173573.2	NP_775844.2	Q8IXW0	LMTD2_HUMAN		42										NS(1)|breast(1)|central_nervous_system(1)|lung(4)|pancreas(1)	8		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGTGCGGGGTGGGGCGTGGTG	0.697																																						dbGAP											0													35.0	43.0	41.0					11																	558890		2203	4299	6502	-	-	-	SO:0001589	frameshift_variant	0																														ENST00000329451.3:c.124delC	11.37:g.558890delG	ENSP00000331167:p.His42fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Del	DEL	pfam_Lamin_tail_dom	p.H42fs	ENST00000329451.3	37	c.124	CCDS7701.1	11																																																																																			C11orf35	-	NULL	ENSG00000185522		0.697	C11orf35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C11orf35	HGNC	protein_coding	OTTHUMT00000254973.2	8	0.00	0	G			558890	558890	-1	no_errors	ENST00000329451	ensembl	human	known	69_37n	frame_shift_del	4	33.33	2	DEL	0.001	-
C1QTNF9B	387911	genome.wustl.edu	37	13	24465974	24465974	+	Silent	SNP	G	G	A			TCGA-D8-A1JP-01A-11D-A13L-09	TCGA-D8-A1JP-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1e21a355-0cb6-4a43-b134-50ff88dacf92	6eeba22a-d922-4fc8-abc1-ae8bc9eee928	g.chr13:24465974G>A	ENST00000382140.2	-	5	516	c.456C>T	c.(454-456)ggC>ggT	p.G152G	C1QTNF9B_ENST00000382137.3_Silent_p.G152G|C1QTNF9B_ENST00000556521.1_Intron|MIPEP_ENST00000382172.3_5'Flank|C1QTNF9B_ENST00000382057.3_Intron|C1QTNF9B_ENST00000382145.1_Intron|C1QTNF9B-AS1_ENST00000382133.4_RNA|C1QTNF9B-AS1_ENST00000417034.1_RNA|C1QTNF9B-AS1_ENST00000435039.2_RNA|MIPEP_ENST00000469167.1_5'Flank			B2RNN3	C1T9B_HUMAN	C1q and tumor necrosis factor related protein 9B	152	Collagen-like 2.					collagen trimer (GO:0005581)|extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1)	6						GGCCCATGGGGCCCGGTAAAC	0.642																																						dbGAP											0													17.0	24.0	22.0					13																	24465974		2197	4297	6494	-	-	-	SO:0001819	synonymous_variant	0			BC110413	CCDS31947.1	13q12.12	2011-05-08			ENSG00000205863	ENSG00000205863			34072	protein-coding gene	gene with protein product		614148				17544811	Standard	NM_001007537		Approved	CTRP9B	uc010tcv.1	B2RNN3	OTTHUMG00000016570	ENST00000382140.2:c.456C>T	13.37:g.24465974G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A2A3T6|B9EH31|Q0VGC5|Q5VX65|Q5VX66|Q8IUU4	Silent	SNP	pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q	p.G152	ENST00000382140.2	37	c.456	CCDS31947.1	13																																																																																			C1QTNF9B	-	pfam_Collagen	ENSG00000205863		0.642	C1QTNF9B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	C1QTNF9B	HGNC	protein_coding	OTTHUMT00000044162.3	103	0.00	0	G	NM_001007537		24465974	24465974	-1	no_errors	ENST00000382137	ensembl	human	known	69_37n	silent	55	13.85	9	SNP	0.972	A
C1S	716	genome.wustl.edu	37	12	7177194	7177194	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D8-A1JP-01A-11D-A13L-09	TCGA-D8-A1JP-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1e21a355-0cb6-4a43-b134-50ff88dacf92	6eeba22a-d922-4fc8-abc1-ae8bc9eee928	g.chr12:7177194C>T	ENST00000406697.1	+	15	1934	c.1306C>T	c.(1306-1308)Cag>Tag	p.Q436*	C1S_ENST00000328916.3_Nonsense_Mutation_p.Q436*|C1S_ENST00000402681.3_Nonsense_Mutation_p.Q269*|C1S_ENST00000495061.1_3'UTR|C1S_ENST00000360817.5_Nonsense_Mutation_p.Q436*			P09871	C1S_HUMAN	complement component 1, s subcomponent	436					complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	TGAAGAAAAACAGAGGATAAT	0.463																																					GBM(156;750 1943 12971 24779 31015)	dbGAP											0													86.0	89.0	88.0					12																	7177194		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS31735.1	12p13	2014-09-17			ENSG00000182326	ENSG00000182326	3.4.21.42	"""Complement system"""	1247	protein-coding gene	gene with protein product		120580					Standard	NM_201442		Approved		uc001qsl.3	P09871	OTTHUMG00000150305	ENST00000406697.1:c.1306C>T	12.37:g.7177194C>T	ENSP00000385035:p.Gln436*	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DUT4|Q9UCU7|Q9UCU8|Q9UCU9|Q9UCV0|Q9UCV1|Q9UCV2|Q9UCV3|Q9UCV4|Q9UCV5|Q9UM14	Nonsense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_CUB,pfam_Sushi_SCR_CCP,pfam_EGF-like_Ca-bd,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_EGF-like_Ca-bd,smart_Sushi_SCR_CCP,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_CUB,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1_S6	p.Q436*	ENST00000406697.1	37	c.1306	CCDS31735.1	12	.	.	.	.	.	.	.	.	.	.	C	38	6.700230	0.97772	.	.	ENSG00000182326	ENST00000406697;ENST00000328916;ENST00000360817;ENST00000382222;ENST00000402681	.	.	.	4.93	4.93	0.64822	.	0.000000	0.40302	N	0.001139	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.6339	0.56673	0.0:0.695:0.305:0.0	.	.	.	.	X	436;436;436;430;269	.	ENSP00000328173:Q436X	Q	+	1	0	C1S	7047455	0.238000	0.23825	0.951000	0.38953	0.133000	0.20885	0.990000	0.29642	2.560000	0.86352	0.462000	0.41574	CAG	C1S	-	superfamily_Pept_cys/ser_Trypsin-like	ENSG00000182326		0.463	C1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1S	HGNC	protein_coding	OTTHUMT00000317481.1	26	0.00	0	C	NM_001734		7177194	7177194	+1	no_errors	ENST00000328916	ensembl	human	known	69_37n	nonsense	18	30.77	8	SNP	0.977	T
C9orf84	158401	genome.wustl.edu	37	9	114466195	114466195	+	Missense_Mutation	SNP	A	A	C			TCGA-D8-A1JP-01A-11D-A13L-09	TCGA-D8-A1JP-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1e21a355-0cb6-4a43-b134-50ff88dacf92	6eeba22a-d922-4fc8-abc1-ae8bc9eee928	g.chr9:114466195A>C	ENST00000318737.4	-	20	2869	c.2741T>G	c.(2740-2742)gTg>gGg	p.V914G	C9orf84_ENST00000394777.4_Missense_Mutation_p.V840G|C9orf84_ENST00000374287.3_Missense_Mutation_p.V914G|C9orf84_ENST00000394779.3_Missense_Mutation_p.V875G	NM_173521.3	NP_775792.3	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	914										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						ATCAATTGTCACCACTACATA	0.318																																						dbGAP											0													85.0	83.0	84.0					9																	114466195		2203	4298	6501	-	-	-	SO:0001583	missense	0			AL833535	CCDS6781.3, CCDS43863.1	9q32	2012-03-16			ENSG00000165181	ENSG00000165181			26535	protein-coding gene	gene with protein product							Standard	XM_005251738		Approved	FLJ32779	uc004bfr.3	Q5VXU9	OTTHUMG00000020495	ENST00000318737.4:c.2741T>G	9.37:g.114466195A>C	ENSP00000322108:p.Val914Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A2V3|Q2M1H8|Q96M73	Missense_Mutation	SNP	superfamily_RuvA_2-like	p.V914G	ENST00000318737.4	37	c.2741	CCDS6781.3	9	.	.	.	.	.	.	.	.	.	.	A	17.20	3.330167	0.60743	.	.	ENSG00000165181	ENST00000394779;ENST00000394777;ENST00000394778;ENST00000374287;ENST00000318737	T;T;T;T	0.07908	3.15;3.18;3.16;3.16	5.34	5.34	0.76211	.	0.499047	0.16792	N	0.199329	T	0.14399	0.0348	L	0.29908	0.895	0.54753	D	0.999981	P;D;P	0.57571	0.95;0.98;0.95	P;P;P	0.55303	0.698;0.773;0.698	T	0.01545	-1.1328	10	0.87932	D	0	0.8702	13.549	0.61721	1.0:0.0:0.0:0.0	.	840;914;875	A6PVK7;Q5VXU9;A2A2V3	.;CI084_HUMAN;.	G	875;840;528;914;914	ENSP00000378259:V875G;ENSP00000378257:V840G;ENSP00000363405:V914G;ENSP00000322108:V914G	ENSP00000322108:V914G	V	-	2	0	C9orf84	113506016	0.980000	0.34600	0.940000	0.37924	0.451000	0.32288	6.933000	0.75874	2.037000	0.60232	0.528000	0.53228	GTG	C9orf84	-	NULL	ENSG00000165181		0.318	C9orf84-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C9orf84	HGNC	protein_coding	OTTHUMT00000053656.2	142	0.00	0	A	NM_173521		114466195	114466195	-1	no_errors	ENST00000318737	ensembl	human	known	69_37n	missense	111	34.71	59	SNP	0.997	C
CCDC136	64753	genome.wustl.edu	37	7	128452928	128452928	+	Missense_Mutation	SNP	A	A	C			TCGA-D8-A1JP-01A-11D-A13L-09	TCGA-D8-A1JP-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1e21a355-0cb6-4a43-b134-50ff88dacf92	6eeba22a-d922-4fc8-abc1-ae8bc9eee928	g.chr7:128452928A>C	ENST00000297788.4	+	14	3075	c.2708A>C	c.(2707-2709)aAg>aCg	p.K903T	CCDC136_ENST00000464832.1_Intron|CCDC136_ENST00000487361.1_Intron|CCDC136_ENST00000378685.4_Intron	NM_022742.4	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	903						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						AGGGAGTTCAAGGAGTGCATG	0.547																																						dbGAP											0													54.0	57.0	56.0					7																	128452928		1947	4150	6097	-	-	-	SO:0001583	missense	0				CCDS47704.1, CCDS56510.1	7q33	2007-08-01			ENSG00000128596	ENSG00000128596			22225	protein-coding gene	gene with protein product		611902				15112360	Standard	NM_022742		Approved	KIAA1793, NAG6, DKFZP434G156	uc003vnv.2	Q96JN2	OTTHUMG00000158310	ENST00000297788.4:c.2708A>C	7.37:g.128452928A>C	ENSP00000297788:p.Lys903Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1K1|A7MCY7|A8MYA7|Q6ZVK7|Q9H8M3|Q9UFE1	Missense_Mutation	SNP	NULL	p.K903T	ENST00000297788.4	37	c.2708	CCDS47704.1	7	.	.	.	.	.	.	.	.	.	.	A	14.57	2.574669	0.45902	.	.	ENSG00000128596	ENST00000297788;ENST00000397697;ENST00000320524;ENST00000464672	T	0.38722	1.12	5.45	-2.15	0.07102	.	0.643861	0.15210	N	0.274520	T	0.44685	0.1305	M	0.68952	2.095	0.09310	N	0.999999	B;B;D	0.56746	0.1;0.037;0.977	B;B;P	0.55923	0.046;0.027;0.787	T	0.34403	-0.9830	10	0.56958	D	0.05	-17.0551	1.4765	0.02427	0.428:0.1406:0.2947:0.1368	.	903;903;903	Q96JN2-4;Q96JN2-2;Q96JN2	.;.;CC136_HUMAN	T	903;903;903;494	ENSP00000297788:K903T	ENSP00000297788:K903T	K	+	2	0	CCDC136	128240164	0.263000	0.24083	0.244000	0.24202	0.270000	0.26580	0.370000	0.20433	-0.244000	0.09639	-0.313000	0.08912	AAG	CCDC136	-	NULL	ENSG00000128596		0.547	CCDC136-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC136	HGNC	protein_coding	OTTHUMT00000350641.1	53	0.00	0	A	NM_022742		128452928	128452928	+1	no_errors	ENST00000297788	ensembl	human	known	69_37n	missense	23	28.12	9	SNP	0.079	C
CCDC80	151887	genome.wustl.edu	37	3	112358086	112358086	+	Missense_Mutation	SNP	T	T	A			TCGA-D8-A1JP-01A-11D-A13L-09	TCGA-D8-A1JP-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1e21a355-0cb6-4a43-b134-50ff88dacf92	6eeba22a-d922-4fc8-abc1-ae8bc9eee928	g.chr3:112358086T>A	ENST00000206423.3	-	2	1620	c.667A>T	c.(667-669)Atg>Ttg	p.M223L	CCDC80_ENST00000475181.1_5'Flank|CCDC80_ENST00000439685.2_Missense_Mutation_p.M223L	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	223					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						AGGAAGCTCATCAGCTTAGGG	0.587																																						dbGAP											0													114.0	109.0	110.0					3																	112358086		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY333429	CCDS2968.1	3q13.2	2010-12-24			ENSG00000091986	ENSG00000091986			30649	protein-coding gene	gene with protein product	"""steroid sensitive gene 1"""	608298				15325258, 18178152	Standard	XM_005247135		Approved	URB, SSG1, DRO1	uc003dzf.3	Q76M96	OTTHUMG00000159265	ENST00000206423.3:c.667A>T	3.37:g.112358086T>A	ENSP00000206423:p.Met223Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DN67|Q5PR20|Q6GPG9|Q8IVT6|Q8NBV1|Q8NHY8	Missense_Mutation	SNP	NULL	p.M223L	ENST00000206423.3	37	c.667	CCDS2968.1	3	.	.	.	.	.	.	.	.	.	.	T	14.98	2.698745	0.48307	.	.	ENSG00000091986	ENST00000206423;ENST00000439685	T;T	0.39229	1.09;1.09	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.42854	0.1221	L	0.39898	1.24	0.80722	D	1	B;P;B	0.46142	0.394;0.873;0.449	B;P;B	0.52031	0.255;0.688;0.372	T	0.27365	-1.0076	10	0.02654	T	1	-35.9788	15.4521	0.75282	0.0:0.0:0.0:1.0	.	234;223;223	Q76M96-2;A3KC71;Q76M96	.;.;CCD80_HUMAN	L	223	ENSP00000206423:M223L;ENSP00000411814:M223L	ENSP00000206423:M223L	M	-	1	0	CCDC80	113840776	1.000000	0.71417	0.992000	0.48379	0.993000	0.82548	6.155000	0.71833	2.054000	0.61138	0.454000	0.30748	ATG	CCDC80	-	NULL	ENSG00000091986		0.587	CCDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC80	HGNC	protein_coding	OTTHUMT00000354219.1	42	0.00	0	T	NM_199511		112358086	112358086	-1	no_errors	ENST00000206423	ensembl	human	known	69_37n	missense	42	26.32	15	SNP	1.000	A
CDHR2	54825	genome.wustl.edu	37	5	176004753	176004753	+	Missense_Mutation	SNP	T	T	A			TCGA-D8-A1JP-01A-11D-A13L-09	TCGA-D8-A1JP-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1e21a355-0cb6-4a43-b134-50ff88dacf92	6eeba22a-d922-4fc8-abc1-ae8bc9eee928	g.chr5:176004753T>A	ENST00000510636.1	+	14	1740	c.1466T>A	c.(1465-1467)gTg>gAg	p.V489E	CDHR2_ENST00000506348.1_Missense_Mutation_p.V489E|CDHR2_ENST00000261944.5_Missense_Mutation_p.V489E	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	489	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						GTCCTCACGGTGCCAGAGCAC	0.607																																						dbGAP											0													81.0	70.0	74.0					5																	176004753		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB047004	CCDS34297.1	5q35.2	2011-07-01	2010-01-25	2010-01-25		ENSG00000074276		"""Cadherins / Cadherin-related"""	18231	protein-coding gene	gene with protein product	"""protocadherin LKC"""		"""protocadherin 24"""	PCDH24		11082270, 12117771	Standard	NM_001171976		Approved	PC-LKC, FLJ20124, FLJ20383, PCLKC	uc003mem.2	Q9BYE9		ENST00000510636.1:c.1466T>A	5.37:g.176004753T>A	ENSP00000424565:p.Val489Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L3U4|A6NC80|Q9NXP8	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V489E	ENST00000510636.1	37	c.1466	CCDS34297.1	5	.	.	.	.	.	.	.	.	.	.	T	18.01	3.526671	0.64860	.	.	ENSG00000074276	ENST00000510636;ENST00000261944;ENST00000506348	T;T;T	0.59083	0.29;0.29;0.29	5.03	5.03	0.67393	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.79799	0.4508	M	0.88570	2.965	0.27612	N	0.948634	D	0.89917	1.0	D	0.75484	0.986	T	0.75054	-0.3453	9	0.87932	D	0	-11.8334	14.9146	0.70785	0.0:0.0:0.0:1.0	.	489	Q9BYE9	CDHR2_HUMAN	E	489	ENSP00000424565:V489E;ENSP00000261944:V489E;ENSP00000421078:V489E	ENSP00000261944:V489E	V	+	2	0	CDHR2	175937359	0.990000	0.36364	0.003000	0.11579	0.027000	0.11550	5.450000	0.66626	2.122000	0.65172	0.448000	0.29417	GTG	CDHR2	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000074276		0.607	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDHR2	HGNC	protein_coding	OTTHUMT00000372201.1	62	0.00	0	T	NM_017675		176004753	176004753	+1	no_errors	ENST00000261944	ensembl	human	known	69_37n	missense	31	11.11	4	SNP	0.035	A
CDK11A	728642	genome.wustl.edu	37	1	1635323	1635323	+	Silent	SNP	C	C	A			TCGA-D8-A1JP-01A-11D-A13L-09	TCGA-D8-A1JP-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1e21a355-0cb6-4a43-b134-50ff88dacf92	6eeba22a-d922-4fc8-abc1-ae8bc9eee928	g.chr1:1635323C>A	ENST00000378633.1	-	17	1939	c.1860G>T	c.(1858-1860)ctG>ctT	p.L620L	CDK11A_ENST00000378638.2_Silent_p.L583L|CDK11A_ENST00000356200.3_Silent_p.L583L|CDK11A_ENST00000357760.2_Silent_p.L616L|CDK11A_ENST00000404249.3_Silent_p.L617L|CDK11A_ENST00000358779.5_Silent_p.L607L|CDK11A_ENST00000495016.1_5'UTR|RP1-283E3.8_ENST00000598846.1_RNA			Q9UQ88	CD11A_HUMAN	cyclin-dependent kinase 11A	620	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(4)|stomach(1)|urinary_tract(1)	18						GCTTCTGAGTCAGCAGCTCCC	0.572																																					Pancreas(186;965 2119 30274 40311 50569)	dbGAP											0													71.0	77.0	75.0					1																	1635323		2009	4178	6187	-	-	-	SO:0001819	synonymous_variant	0			AF067522	CCDS44042.1, CCDS44043.1	1p36.33	2011-11-08	2009-12-16	2009-12-16	ENSG00000008128	ENSG00000008128		"""Cyclin-dependent kinases"""	1730	protein-coding gene	gene with protein product		116951	"""cell division cycle 2-like 2"", ""cell division cycle 2-like 2 (PITSLRE proteins)"""	CDC2L3, CDC2L2		7920654, 9750192, 19884882	Standard	NM_033529		Approved	PITSLRE, CDK11-p110, CDK11-p58, CDK11-p46, p58GTA		Q9UQ88	OTTHUMG00000000703	ENST00000378633.1:c.1860G>T	1.37:g.1635323C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O95227|O95228|O96012|Q12821|Q12853|Q12854|Q2TAJ0|Q5QPR0|Q5QPR1|Q5QPR2|Q9UBC4|Q9UBI3|Q9UEI1|Q9UEI2|Q9UP53|Q9UP54|Q9UP55|Q9UP56|Q9UQ86|Q9UQ87|Q9UQ89	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.L617	ENST00000378633.1	37	c.1851		1																																																																																			CDK11A	-	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	ENSG00000008128		0.572	CDK11A-005	NOVEL	basic	protein_coding	CDK11A	HGNC	protein_coding	OTTHUMT00000001735.1	92	0.00	0	C	NM_024011		1635323	1635323	-1	no_errors	ENST00000404249	ensembl	human	known	69_37n	silent	52	31.58	24	SNP	1.000	A
CEP350	9857	genome.wustl.edu	37	1	180063342	180063342	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JP-01A-11D-A13L-09	TCGA-D8-A1JP-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1e21a355-0cb6-4a43-b134-50ff88dacf92	6eeba22a-d922-4fc8-abc1-ae8bc9eee928	g.chr1:180063342C>T	ENST00000367607.3	+	34	8520	c.8102C>T	c.(8101-8103)aCa>aTa	p.T2701I	CEP350_ENST00000490141.1_3'UTR	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	2701					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						CAGCAGTTTACAGAAGAGGAA	0.418																																						dbGAP											0													38.0	39.0	39.0					1																	180063342		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.8102C>T	1.37:g.180063342C>T	ENSP00000356579:p.Thr2701Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain	p.T2701I	ENST00000367607.3	37	c.8102	CCDS1336.1	1	.	.	.	.	.	.	.	.	.	.	C	3.928	-0.016697	0.07681	.	.	ENSG00000135837	ENST00000367607;ENST00000417046	T	0.58060	0.36	5.73	2.86	0.33363	.	0.625075	0.13954	N	0.351319	T	0.34395	0.0896	L	0.36672	1.1	0.09310	N	1	B;P	0.39216	0.001;0.664	B;B	0.29942	0.002;0.109	T	0.09400	-1.0676	9	.	.	.	.	6.6016	0.22703	0.0:0.6578:0.1284:0.2138	.	2701;2701	E7EU22;Q5VT06	.;CE350_HUMAN	I	2701;165	ENSP00000356579:T2701I	.	T	+	2	0	CEP350	178329965	0.089000	0.21612	0.004000	0.12327	0.275000	0.26752	0.679000	0.25291	0.355000	0.24131	0.591000	0.81541	ACA	CEP350	-	NULL	ENSG00000135837		0.418	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP350	HGNC	protein_coding	OTTHUMT00000085315.2	38	0.00	0	C	NM_014810		180063342	180063342	+1	no_errors	ENST00000367607	ensembl	human	known	69_37n	missense	80	23.58	25	SNP	0.008	T
CHD6	84181	genome.wustl.edu	37	20	40076584	40076584	+	Nonsense_Mutation	SNP	G	G	T			TCGA-D8-A1JP-01A-11D-A13L-09	TCGA-D8-A1JP-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1e21a355-0cb6-4a43-b134-50ff88dacf92	6eeba22a-d922-4fc8-abc1-ae8bc9eee928	g.chr20:40076584G>T	ENST00000373233.3	-	24	3888	c.3711C>A	c.(3709-3711)taC>taA	p.Y1237*	CHD6_ENST00000309279.7_Nonsense_Mutation_p.Y720*	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1237					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CTTTTAGGTAGTACAGCATCC	0.393																																						dbGAP											0													133.0	126.0	128.0					20																	40076584		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.3711C>A	20.37:g.40076584G>T	ENSP00000362330:p.Tyr1237*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Nonsense_Mutation	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_BRK_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.Y1237*	ENST00000373233.3	37	c.3711	CCDS13317.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	43|43	10.136502|10.136502	0.99344|0.99344	.|.	.|.	ENSG00000124177|ENSG00000124177	ENST00000440697|ENST00000373233;ENST00000309279	.|.	.|.	.|.	5.65|5.65	3.69|3.69	0.42338|0.42338	.|.	.|0.000000	.|0.49916	.|D	.|0.000137	T|.	0.22975|.	0.0555|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.27536|.	-1.0071|.	3|.	.|0.02654	.|T	.|1	-9.3501|-9.3501	9.0889|9.0889	0.36598|0.36598	0.2069:0.0:0.7931:0.0|0.2069:0.0:0.7931:0.0	.|.	.|.	.|.	.|.	N|X	423|1237;720	.|.	.|ENSP00000308684:Y720X	T|Y	-|-	2|3	0|2	CHD6|CHD6	39509998|39509998	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.381000|3.381000	0.52455|0.52455	2.668000|2.668000	0.90789|0.90789	0.655000|0.655000	0.94253|0.94253	ACT|TAC	CHD6	-	NULL	ENSG00000124177		0.393	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD6	HGNC	protein_coding	OTTHUMT00000079270.1	68	0.00	0	G			40076584	40076584	-1	no_errors	ENST00000373233	ensembl	human	known	69_37n	nonsense	101	14.41	17	SNP	1.000	T
COL5A3	50509	genome.wustl.edu	37	19	10097037	10097037	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1JP-01A-11D-A13L-09	TCGA-D8-A1JP-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1e21a355-0cb6-4a43-b134-50ff88dacf92	6eeba22a-d922-4fc8-abc1-ae8bc9eee928	g.chr19:10097037G>A	ENST00000264828.3	-	30	2391	c.2306C>T	c.(2305-2307)gCg>gTg	p.A769V		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	769	Triple-helical region.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			AGCCTGCCCCGCCTGCCCCTT	0.592																																						dbGAP											0													18.0	24.0	22.0					19																	10097037		2194	4292	6486	-	-	-	SO:0001583	missense	0			AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"""Collagens"""	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.2306C>T	19.37:g.10097037G>A	ENSP00000264828:p.Ala769Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9NZQ6	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl,smart_Laminin_G,smart_Fib_collagen_C	p.A769V	ENST00000264828.3	37	c.2306	CCDS12222.1	19	.	.	.	.	.	.	.	.	.	.	G	9.078	0.998548	0.19121	.	.	ENSG00000080573	ENST00000264828	D	0.93488	-3.23	4.32	-8.63	0.00878	.	0.896444	0.09463	N	0.798715	T	0.79656	0.4483	N	0.14661	0.345	0.19300	N	0.99997	B	0.09022	0.002	B	0.01281	0.0	T	0.67098	-0.5756	10	0.24483	T	0.36	.	2.0728	0.03618	0.2422:0.0763:0.3099:0.3716	.	769	P25940	CO5A3_HUMAN	V	769	ENSP00000264828:A769V	ENSP00000264828:A769V	A	-	2	0	COL5A3	9958037	0.000000	0.05858	0.219000	0.23793	0.504000	0.33889	0.343000	0.19944	-2.352000	0.00616	-2.104000	0.00359	GCG	COL5A3	-	NULL	ENSG00000080573		0.592	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL5A3	HGNC	protein_coding	OTTHUMT00000315788.1	24	0.00	0	G	NM_015719		10097037	10097037	-1	no_errors	ENST00000264828	ensembl	human	known	69_37n	missense	10	36.84	7	SNP	0.131	A
CRNKL1	51340	genome.wustl.edu	37	20	20033136	20033136	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A1JP-01A-11D-A13L-09	TCGA-D8-A1JP-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1e21a355-0cb6-4a43-b134-50ff88dacf92	6eeba22a-d922-4fc8-abc1-ae8bc9eee928	g.chr20:20033136C>A	ENST00000377340.2	-	2	365	c.334G>T	c.(334-336)Gcg>Tcg	p.A112S	C20orf26_ENST00000389656.3_5'Flank|C20orf26_ENST00000245957.5_5'Flank|C20orf26_ENST00000377309.2_5'Flank|CRNKL1_ENST00000536226.1_5'Flank|CRNKL1_ENST00000377327.4_Missense_Mutation_p.A100S|C20orf26_ENST00000377306.1_5'Flank	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	112					mRNA splicing, via spliceosome (GO:0000398)|spliceosomal complex assembly (GO:0000245)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						TGACCTCTCGCTTGAGCCGTG	0.602																																						dbGAP											0													77.0	74.0	75.0					20																	20033136		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF255443	CCDS33446.1, CCDS63238.1, CCDS63239.1	20p11.2	2013-10-03	2013-10-03		ENSG00000101343	ENSG00000101343			15762	protein-coding gene	gene with protein product	"""SYF3 pre-mRNA-splicing factor"""	610952	"""crooked neck (Drosophila Crn homolog)-like 1"", ""Crn, crooked neck-like 1 (Drosophila)"", ""crooked neck pre-mRNA splicing factor-like 1 (Drosophila)"""				Standard	NM_016652		Approved	CRN, CLF, SYF3, Clf1	uc002wrs.3	Q9BZJ0	OTTHUMG00000032000	ENST00000377340.2:c.334G>T	20.37:g.20033136C>A	ENSP00000366557:p.Ala112Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9T4|Q5JY64|Q8WYI5|Q9BZI9|Q9BZJ1|Q9BZJ2|Q9GZW7|Q9H8F8|Q9NQH5|Q9NYD8	Missense_Mutation	SNP	pfam_HAT,pfam_Suf,smart_HAT,pfscan_TPR-contain_dom	p.A112S	ENST00000377340.2	37	c.334	CCDS33446.1	20	.	.	.	.	.	.	.	.	.	.	C	13.00	2.105877	0.37145	.	.	ENSG00000101343	ENST00000377327;ENST00000377340	T;T	0.35789	1.3;1.29	5.27	2.19	0.27852	.	0.852929	0.09795	N	0.754939	T	0.18759	0.0450	N	0.08118	0	0.20403	N	0.99991	B;B	0.20550	0.046;0.001	B;B	0.17979	0.02;0.001	T	0.20140	-1.0284	10	0.66056	D	0.02	-0.8392	5.6788	0.17763	0.1562:0.6765:0.0:0.1673	.	100;112	Q5JY65;Q9BZJ0	.;CRNL1_HUMAN	S	100;112	ENSP00000366544:A100S;ENSP00000366557:A112S	ENSP00000366544:A100S	A	-	1	0	CRNKL1	19981136	0.000000	0.05858	0.001000	0.08648	0.058000	0.15608	0.962000	0.29280	0.770000	0.33336	0.655000	0.94253	GCG	CRNKL1	-	NULL	ENSG00000101343		0.602	CRNKL1-002	KNOWN	basic|CCDS	protein_coding	CRNKL1	HGNC	protein_coding	OTTHUMT00000127787.1	26	0.00	0	C			20033136	20033136	-1	no_errors	ENST00000377340	ensembl	human	known	69_37n	missense	36	26.53	13	SNP	0.001	A
CYP1A2	1544	genome.wustl.edu	37	15	75042230	75042230	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JP-01A-11D-A13L-09	TCGA-D8-A1JP-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1e21a355-0cb6-4a43-b134-50ff88dacf92	6eeba22a-d922-4fc8-abc1-ae8bc9eee928	g.chr15:75042230C>G	ENST00000343932.4	+	2	214	c.151C>G	c.(151-153)Ctc>Gtc	p.L51V		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	51					alkaloid metabolic process (GO:0009820)|arachidonic acid metabolic process (GO:0019369)|cellular respiration (GO:0045333)|cellular response to cadmium ion (GO:0071276)|dibenzo-p-dioxin metabolic process (GO:0018894)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|hydrogen peroxide biosynthetic process (GO:0050665)|lung development (GO:0030324)|methylation (GO:0032259)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative deethylation (GO:0071615)|oxidative demethylation (GO:0070989)|porphyrin-containing compound metabolic process (GO:0006778)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)|steroid catabolic process (GO:0006706)|toxin biosynthetic process (GO:0009403)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|caffeine oxidase activity (GO:0034875)|demethylase activity (GO:0032451)|electron carrier activity (GO:0009055)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					"""""""Insulin(DB00071)|Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Agomelatine(DB06594)|Albendazole(DB00518)|Alitretinoin(DB00523)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Aminophylline(DB01223)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Anagrelide(DB00261)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Asenapine(DB06216)|Atropine(DB00572)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzyl alcohol(DB06770)|Betaxolol(DB00195)|Bortezomib(DB00188)|Bromazepam(DB01558)|Bromocriptine(DB01200)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Caffeine(DB00201)|Carbamazepine(DB00564)|Carmustine(DB00262)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clenbuterol(DB01407)|Clevidipine(DB04920)|Clobetasol propionate(DB01013)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Diazepam(DB00829)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Edetic Acid(DB00974)|Efavirenz(DB00625)|Eltrombopag(DB06210)|Enoxacin(DB00467)|Epinephrine(DB00668)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Ethanol(DB00898)|Etoposide(DB00773)|Etoricoxib(DB01628)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Gemfibrozil(DB01241)|Griseofulvin(DB00400)|Guanabenz(DB00629)|Haloperidol(DB00502)|Hesperetin(DB01094)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Imiquimod(DB00724)|inhaled insulin(DB05278)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Losartan(DB00678)|Lumiracoxib(DB01283)|Malathion(DB00772)|Maprotiline(DB00934)|Meclizine(DB00737)|Melatonin(DB01065)|Menadione(DB00170)|Methadone(DB00333)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Nabumetone(DB00461)|Nafcillin(DB00607)|Naproxen(DB00788)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitric Oxide(DB00435)|Nitroprusside(DB00325)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxaliplatin(DB00526)|Oxtriphylline(DB01303)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pefloxacin(DB00487)|Pentamidine(DB00738)|Pentoxifylline(DB00806)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pomalidomide(DB08910)|Praziquantel(DB01058)|Primaquine(DB01087)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Pyrazinamide(DB00339)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifabutin(DB00615)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Roxithromycin(DB00778)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|SIMEPREVIR(DB06290)|Sorafenib(DB00398)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Tenofovir(DB00300)|Terbinafine(DB00857)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiabendazole(DB00730)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tizanidine(DB00697)|Tocainide(DB01056)|Toremifene(DB00539)|Tranylcypromine(DB00752)|Triamterene(DB00384)|Trifluoperazine(DB00831)|Valproic Acid(DB00313)|Vemurafenib(DB08881)|Verapamil(DB00661)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)|Zolpidem(DB00425)"""	CTGGCCCTTGCTCGGGCATGT	0.627																																						dbGAP											0													78.0	80.0	79.0					15																	75042230		2197	4296	6493	-	-	-	SO:0001583	missense	0			AF182274	CCDS32293.1	15q24.1	2013-11-11	2003-01-14		ENSG00000140505	ENSG00000140505	1.14.14.1	"""Cytochrome P450s"""	2596	protein-coding gene	gene with protein product		124060	"""cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 2"""			15128046	Standard	NM_000761		Approved	P3-450, CP12	uc002ayr.1	P05177	OTTHUMG00000172901	ENST00000343932.4:c.151C>G	15.37:g.75042230C>G	ENSP00000342007:p.Leu51Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q16754|Q6NWU5|Q9BXX7|Q9UK49	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP1,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450	p.L51V	ENST00000343932.4	37	c.151	CCDS32293.1	15	.	.	.	.	.	.	.	.	.	.	C	8.861	0.946923	0.18356	.	.	ENSG00000140505	ENST00000343932	T	0.67171	-0.25	5.11	-9.89	0.00464	.	0.362181	0.29715	N	0.011382	T	0.41903	0.1179	L	0.37800	1.135	0.09310	N	0.999999	B	0.15719	0.014	B	0.21917	0.037	T	0.19976	-1.0289	10	0.23302	T	0.38	.	6.4168	0.21721	0.2823:0.5236:0.0589:0.1353	.	51	P05177-2	.	V	51	ENSP00000342007:L51V	ENSP00000342007:L51V	L	+	1	0	CYP1A2	72829283	0.009000	0.17119	0.008000	0.14137	0.800000	0.45204	0.058000	0.14301	-1.309000	0.02315	-0.274000	0.10170	CTC	CYP1A2	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV	ENSG00000140505		0.627	CYP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP1A2	HGNC	protein_coding	OTTHUMT00000421263.2	69	0.00	0	C	NM_000761		75042230	75042230	+1	no_errors	ENST00000343932	ensembl	human	known	69_37n	missense	59	28.05	23	SNP	0.145	G
DAO	1610	genome.wustl.edu	37	12	109278917	109278917	+	Silent	SNP	C	C	G			TCGA-D8-A1JP-01A-11D-A13L-09	TCGA-D8-A1JP-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1e21a355-0cb6-4a43-b134-50ff88dacf92	6eeba22a-d922-4fc8-abc1-ae8bc9eee928	g.chr12:109278917C>G	ENST00000228476.3	+	2	339	c.135C>G	c.(133-135)acC>acG	p.T45T	DAO_ENST00000551281.1_Silent_p.T45T	NM_001917.4	NP_001908.3	P14920	OXDA_HUMAN	D-amino-acid oxidase	45					cellular nitrogen compound metabolic process (GO:0034641)|D-alanine catabolic process (GO:0055130)|D-serine catabolic process (GO:0036088)|D-serine metabolic process (GO:0070178)|dopamine biosynthetic process (GO:0042416)|glyoxylate metabolic process (GO:0046487)|leucine metabolic process (GO:0006551)|proline catabolic process (GO:0006562)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	cofactor binding (GO:0048037)|D-amino-acid oxidase activity (GO:0003884)|FAD binding (GO:0071949)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26					Flavin adenine dinucleotide(DB03147)	TCACCACCACCGACGTGGCTG	0.632																																						dbGAP											0													90.0	86.0	87.0					12																	109278917		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D11370	CCDS9122.1	12q24.11	2013-09-20			ENSG00000110887	ENSG00000110887	1.4.3.3		2671	protein-coding gene	gene with protein product		124050				1356107, 8182053	Standard	NM_001917		Approved	DAMOX	uc001tnr.4	P14920	OTTHUMG00000169360	ENST00000228476.3:c.135C>G	12.37:g.109278917C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R7I5|Q16758|Q8N6R2	Silent	SNP	pfam_FAD-dep_OxRdtase	p.T45	ENST00000228476.3	37	c.135	CCDS9122.1	12																																																																																			DAO	-	pfam_FAD-dep_OxRdtase	ENSG00000110887		0.632	DAO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAO	HGNC	protein_coding	OTTHUMT00000403682.1	72	0.00	0	C			109278917	109278917	+1	no_errors	ENST00000228476	ensembl	human	known	69_37n	silent	22	29.03	9	SNP	0.779	G
DNAI1	27019	genome.wustl.edu	37	9	34514447	34514447	+	Nonsense_Mutation	SNP	C	C	G			TCGA-D8-A1JP-01A-11D-A13L-09	TCGA-D8-A1JP-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1e21a355-0cb6-4a43-b134-50ff88dacf92	6eeba22a-d922-4fc8-abc1-ae8bc9eee928	g.chr9:34514447C>G	ENST00000242317.4	+	17	1796	c.1625C>G	c.(1624-1626)tCa>tGa	p.S542*		NM_001281428.1|NM_012144.2	NP_001268357.1|NP_036276.1	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1	542					cell projection organization (GO:0030030)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	motor activity (GO:0003774)			autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		CACAACATGTCAGTGGACACT	0.552									Kartagener syndrome																													dbGAP											0													165.0	149.0	154.0					9																	34514447		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AF091619	CCDS6557.1, CCDS75829.1	9p13.3	2013-02-19	2006-09-04		ENSG00000122735	ENSG00000122735		"""Axonemal dyneins"", ""WD repeat domain containing"""	2954	protein-coding gene	gene with protein product		604366	"""dynein, axonemal, intermediate polypeptide 1"""			10577904, 21953912	Standard	NM_012144		Approved	DIC1, PCD, CILD1	uc003zum.3	Q9UI46	OTTHUMG00000019825	ENST00000242317.4:c.1625C>G	9.37:g.34514447C>G	ENSP00000242317:p.Ser542*	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z7U1|Q5T8G7|Q8NHQ7|Q9UEZ8	Nonsense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S542*	ENST00000242317.4	37	c.1625	CCDS6557.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.8|24.8	4.574606|4.574606	0.86542|0.86542	.|.	.|.	ENSG00000122735|ENSG00000122735	ENST00000442556|ENST00000379040;ENST00000242317	.|.	.|.	.|.	5.47|5.47	5.47|5.47	0.80525|0.80525	.|.	.|0.115428	.|0.64402	.|D	.|0.000014	T|.	0.74336|.	0.3703|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.76713|.	-0.2858|.	4|.	.|0.66056	.|D	.|0.02	.|.	14.8269|14.8269	0.70120|0.70120	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	E|X	46|98;542	.|.	.|ENSP00000242317:S542X	Q|S	+|+	1|2	0|0	DNAI1|DNAI1	34504447|34504447	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.823000|0.823000	0.46562|0.46562	6.585000|6.585000	0.74062|0.74062	2.563000|2.563000	0.86464|0.86464	0.561000|0.561000	0.74099|0.74099	CAG|TCA	DNAI1	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000122735		0.552	DNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAI1	HGNC	protein_coding	OTTHUMT00000052192.1	101	0.00	0	C			34514447	34514447	+1	no_errors	ENST00000242317	ensembl	human	known	69_37n	nonsense	56	32.53	27	SNP	0.999	G
DYRK1A	1859	genome.wustl.edu	37	21	38845158	38845158	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JP-01A-11D-A13L-09	TCGA-D8-A1JP-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1e21a355-0cb6-4a43-b134-50ff88dacf92	6eeba22a-d922-4fc8-abc1-ae8bc9eee928	g.chr21:38845158G>C	ENST00000398960.2	+	2	258	c.183G>C	c.(181-183)caG>caC	p.Q61H	DYRK1A_ENST00000339659.4_Missense_Mutation_p.Q61H|DYRK1A_ENST00000462274.1_3'UTR|DYRK1A_ENST00000398956.2_Missense_Mutation_p.Q61H|DYRK1A_ENST00000321219.8_Missense_Mutation_p.Q61H|DYRK1A_ENST00000338785.3_Missense_Mutation_p.Q61H|DYRK1A_ENST00000451934.1_Missense_Mutation_p.Q61H	NM_001396.3|NM_130438.2	NP_001387.2|NP_569122.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A	61					circadian rhythm (GO:0007623)|mitotic cell cycle (GO:0000278)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|nervous system development (GO:0007399)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of protein deacetylation (GO:0090312)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|tau protein binding (GO:0048156)			breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						ATTCTGACCAGATTCAGCAAC	0.423																																					Melanoma(114;464 1602 31203 43785 45765)	dbGAP											0													133.0	115.0	121.0					21																	38845158		2203	4300	6503	-	-	-	SO:0001583	missense	0			U52373	CCDS13653.1, CCDS13654.1, CCDS42925.1, CCDS42926.1	21q22.13	2010-04-21			ENSG00000157540	ENSG00000157540			3091	protein-coding gene	gene with protein product		600855		DYRK1, DYRK, MNBH		9284911	Standard	NM_130436		Approved		uc002ywk.3	Q13627	OTTHUMG00000086657	ENST00000398960.2:c.183G>C	21.37:g.38845158G>C	ENSP00000381932:p.Gln61His	Somatic		WXS	Illumina GAIIx	Phase_IV	O60769|Q92582|Q92810|Q9UNM5	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.Q61H	ENST00000398960.2	37	c.183	CCDS42925.1	21	.	.	.	.	.	.	.	.	.	.	G	23.6	4.434522	0.83776	.	.	ENSG00000157540	ENST00000338785;ENST00000426672;ENST00000339659;ENST00000321219;ENST00000451934;ENST00000398960;ENST00000398956	T;T;T;T;T;T;T	0.59364	0.34;0.83;0.27;0.36;0.34;0.31;0.36	6.16	6.16	0.99307	.	0.055776	0.64402	D	0.000001	T	0.67496	0.2899	L	0.43152	1.355	0.80722	D	1	D;B;D;D;B	0.64830	0.965;0.115;0.99;0.994;0.115	P;B;P;P;B	0.56865	0.563;0.176;0.626;0.808;0.176	T	0.63409	-0.6644	10	0.45353	T	0.12	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	61;61;61;61;61	Q13627-3;Q13627-4;Q13627;Q13627-2;Q13627-5	.;.;DYR1A_HUMAN;.;.	H	61	ENSP00000342690:Q61H;ENSP00000412269:Q61H;ENSP00000340373:Q61H;ENSP00000319032:Q61H;ENSP00000416089:Q61H;ENSP00000381932:Q61H;ENSP00000381929:Q61H	ENSP00000319032:Q61H	Q	+	3	2	DYRK1A	37767028	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.536000	0.82023	2.937000	0.99478	0.650000	0.86243	CAG	DYRK1A	-	NULL	ENSG00000157540		0.423	DYRK1A-006	KNOWN	basic|appris_principal|CCDS	protein_coding	DYRK1A	HGNC	protein_coding	OTTHUMT00000194804.1	62	0.00	0	G	NM_001396		38845158	38845158	+1	no_errors	ENST00000398960	ensembl	human	known	69_37n	missense	45	27.42	17	SNP	1.000	C
EBF1	1879	genome.wustl.edu	37	5	158135133	158135133	+	Missense_Mutation	SNP	T	T	G			TCGA-D8-A1JP-01A-11D-A13L-09	TCGA-D8-A1JP-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1e21a355-0cb6-4a43-b134-50ff88dacf92	6eeba22a-d922-4fc8-abc1-ae8bc9eee928	g.chr5:158135133T>G	ENST00000313708.6	-	15	1880	c.1598A>C	c.(1597-1599)aAc>aCc	p.N533T	EBF1_ENST00000517373.1_Missense_Mutation_p.N465T|EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000380654.4_Missense_Mutation_p.N502T	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	533	Pro/Ser/Thr-rich.				multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCTGCTGCAGTTGGAGGGGAG	0.567			T	HMGA2	lipoma																																	dbGAP		Dom	yes		5	5q34	1879	early B-cell factor 1		M	0													65.0	61.0	62.0					5																	158135133		2202	4298	6500	-	-	-	SO:0001583	missense	0			AF208502	CCDS4343.1	5q34	2008-02-05	2006-09-26	2006-09-26	ENSG00000164330	ENSG00000164330			3126	protein-coding gene	gene with protein product		164343	"""early B-cell factor"""	EBF		8012110	Standard	NM_024007		Approved	OLF1	uc010jip.3	Q9UH73	OTTHUMG00000130304	ENST00000313708.6:c.1598A>C	5.37:g.158135133T>G	ENSP00000322898:p.Asn533Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IW11	Missense_Mutation	SNP	pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,superfamily_HLH_DNA-bd,smart_IPT_TIG_rcpt	p.N533T	ENST00000313708.6	37	c.1598	CCDS4343.1	5	.	.	.	.	.	.	.	.	.	.	T	11.86	1.764322	0.31228	.	.	ENSG00000164330	ENST00000318060;ENST00000313708;ENST00000380654;ENST00000517373	T;T;T	0.43294	0.95;0.95;0.95	5.22	5.22	0.72569	.	0.106416	0.64402	D	0.000008	T	0.31199	0.0789	L	0.27053	0.805	0.49798	D	0.999821	B;B;B;B	0.23442	0.085;0.006;0.004;0.007	B;B;B;B	0.22386	0.039;0.007;0.007;0.007	T	0.07868	-1.0750	10	0.21540	T	0.41	-8.0696	15.1349	0.72555	0.0:0.0:0.0:1.0	.	533;520;533;502	A8K0Z7;B4E2U8;Q9UH73;Q9UH73-2	.;.;COE1_HUMAN;.	T	533;533;502;465	ENSP00000322898:N533T;ENSP00000370029:N502T;ENSP00000428020:N465T	ENSP00000322898:N533T	N	-	2	0	EBF1	158067711	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.040000	0.89188	1.974000	0.57490	0.533000	0.62120	AAC	EBF1	-	NULL	ENSG00000164330		0.567	EBF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	EBF1	HGNC	protein_coding	OTTHUMT00000252649.1	100	0.00	0	T	NM_024007		158135133	158135133	-1	no_errors	ENST00000313708	ensembl	human	known	69_37n	missense	34	52.78	38	SNP	1.000	G
EML1	2009	genome.wustl.edu	37	14	100363567	100363567	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A1JP-01A-11D-A13L-09	TCGA-D8-A1JP-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1e21a355-0cb6-4a43-b134-50ff88dacf92	6eeba22a-d922-4fc8-abc1-ae8bc9eee928	g.chr14:100363567G>T	ENST00000262233.6	+	7	902	c.763G>T	c.(763-765)Gtg>Ttg	p.V255L	EML1_ENST00000327921.9_Missense_Mutation_p.V243L|EML1_ENST00000334192.4_Missense_Mutation_p.V274L	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	255	Tandem atypical propeller in EMLs.				brain development (GO:0007420)|hematopoietic progenitor cell differentiation (GO:0002244)|microtubule cytoskeleton organization (GO:0000226)|mitotic spindle organization (GO:0007052)|neuroblast proliferation (GO:0007405)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	calcium ion binding (GO:0005509)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				ATCCGTGGTGGTGTTATACAA	0.522																																						dbGAP											0													151.0	121.0	131.0					14																	100363567		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK023861	CCDS32154.1, CCDS32155.1	14q32	2013-01-10		2002-02-15		ENSG00000066629		"""WD repeat domain containing"""	3330	protein-coding gene	gene with protein product		602033		EMAPL		9226380, 10521658	Standard	XM_005267397		Approved	EMAP, HuEMAP, ELP79	uc001ygr.3	O00423		ENST00000262233.6:c.763G>T	14.37:g.100363567G>T	ENSP00000262233:p.Val255Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q86U15|Q8N536|Q8N5C4|Q8WWL6	Missense_Mutation	SNP	pfam_HELP,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.V274L	ENST00000262233.6	37	c.820	CCDS32155.1	14	.	.	.	.	.	.	.	.	.	.	G	29.4	5.001668	0.93227	.	.	ENSG00000066629	ENST00000554479;ENST00000327921;ENST00000262233;ENST00000334192;ENST00000542138;ENST00000556714	T;T;T;T;T	0.53857	0.6;0.6;0.6;0.6;0.6	5.3	5.3	0.74995	HELP (1);WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);	0.113257	0.64402	D	0.000014	T	0.80014	0.4546	M	0.92317	3.295	0.80722	D	1	D;D;D;D;D	0.76494	0.997;0.998;0.999;0.999;0.998	D;D;D;D;D	0.81914	0.991;0.995;0.951;0.995;0.995	D	0.85187	0.1007	10	0.87932	D	0	-18.1747	18.9694	0.92709	0.0:0.0:1.0:0.0	.	243;243;255;274;274	F8W717;B7Z650;O00423;O00423-3;B3KXA3	.;.;EMAL1_HUMAN;.;.	L	242;243;255;274;274;224	ENSP00000451346:V242L;ENSP00000327384:V243L;ENSP00000262233:V255L;ENSP00000334314:V274L;ENSP00000452089:V224L	ENSP00000262233:V255L	V	+	1	0	EML1	99433320	1.000000	0.71417	1.000000	0.80357	0.511000	0.34104	9.494000	0.97962	2.485000	0.83878	0.655000	0.94253	GTG	EML1	-	pfam_HELP,superfamily_Quinonprotein_ADH-like	ENSG00000066629		0.522	EML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EML1	HGNC	protein_coding	OTTHUMT00000413943.1	45	0.00	0	G	NM_001008707		100363567	100363567	+1	no_errors	ENST00000334192	ensembl	human	known	69_37n	missense	14	56.25	18	SNP	1.000	T
EPRS	2058	genome.wustl.edu	37	1	220195746	220195746	+	Missense_Mutation	SNP	T	T	A			TCGA-D8-A1JP-01A-11D-A13L-09	TCGA-D8-A1JP-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1e21a355-0cb6-4a43-b134-50ff88dacf92	6eeba22a-d922-4fc8-abc1-ae8bc9eee928	g.chr1:220195746T>A	ENST00000366923.3	-	9	1327	c.1058A>T	c.(1057-1059)gAt>gTt	p.D353V		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	353	Glutamate--tRNA ligase.				cellular response to interferon-gamma (GO:0071346)|gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|negative regulation of translation (GO:0017148)|prolyl-tRNA aminoacylation (GO:0006433)|protein complex assembly (GO:0006461)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|GAIT complex (GO:0097452)|membrane (GO:0016020)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|proline-tRNA ligase activity (GO:0004827)|RNA stem-loop binding (GO:0035613)			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Proline(DB00172)	AAGGGTTGGATCTCTCATGCA	0.393																																						dbGAP											0													280.0	264.0	270.0					1																	220195746		2203	4300	6503	-	-	-	SO:0001583	missense	0			X54326	CCDS31027.1	1q41	2011-07-01			ENSG00000136628	ENSG00000136628	6.1.1.15, 6.1.1.17	"""Aminoacyl tRNA synthetases / Class I"", ""Aminoacyl tRNA synthetases / Class II"""	3418	protein-coding gene	gene with protein product	"""glutamate tRNA ligase"", ""proline tRNA ligase"""	138295		QPRS, QARS		1988429	Standard	NM_004446		Approved	EARS, PARS, GLUPRORS	uc001hly.1	P07814	OTTHUMG00000037433	ENST00000366923.3:c.1058A>T	1.37:g.220195746T>A	ENSP00000355890:p.Asp353Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVA9|B9EGH3|Q05BP6|Q05DF8|Q5DSM1|Q5H9S5|Q6PD57|Q86X73	Missense_Mutation	SNP	pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,pfam_WHEP-TRS,pfam_Glu/Gln-tRNA-synth_Ib_codon-bd,pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Pro-tRNA_synth_II_C,pfam_Anticodon-bd,superfamily_Ribosomal_L25/Gln-tRNA_synth,superfamily_Anticodon-bd,superfamily_Pro-tRNA_synth_II,superfamily_S15_NS1_RNA-bd,superfamily_Glutathione-S-Trfase_C-like,smart_Pro-tRNA_synth_II_C,prints_Glu/Gln-tRNA-synth_Ib,prints_Pro-tRNA-synth_IIa,pfscan_aa-tRNA-synth_II,pfscan_WHEP-TRS,tigrfam_Pro-tRNA-synth_IIa_arc-type,tigrfam_Glu-tRNA-synth_Ib_arc/euk	p.D353V	ENST00000366923.3	37	c.1058	CCDS31027.1	1	.	.	.	.	.	.	.	.	.	.	T	27.1	4.796006	0.90453	.	.	ENSG00000136628	ENST00000366923;ENST00000536921;ENST00000435048	T	0.49432	0.78	5.88	5.88	0.94601	Glutamyl/glutaminyl-tRNA synthetase, class Ib, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.83427	0.5252	H	0.99659	4.685	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.91111	0.4922	10	0.87932	D	0	-26.9912	16.2987	0.82793	0.0:0.0:0.0:1.0	.	377;353;353;353	E7EMN0;F5H7I7;Q3KQZ8;P07814	.;.;.;SYEP_HUMAN	V	353;353;377	ENSP00000355890:D353V	ENSP00000355890:D353V	D	-	2	0	EPRS	218262369	1.000000	0.71417	0.998000	0.56505	0.954000	0.61252	7.484000	0.81180	2.257000	0.74773	0.459000	0.35465	GAT	EPRS	-	pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,tigrfam_Glu-tRNA-synth_Ib_arc/euk	ENSG00000136628		0.393	EPRS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPRS	HGNC	protein_coding	OTTHUMT00000091133.2	242	0.00	0	T	NM_004446		220195746	220195746	-1	no_errors	ENST00000366923	ensembl	human	known	69_37n	missense	328	26.93	122	SNP	1.000	A
FHL2	2274	genome.wustl.edu	37	2	105979846	105979846	+	Missense_Mutation	SNP	A	A	T			TCGA-D8-A1JP-01A-11D-A13L-09	TCGA-D8-A1JP-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1e21a355-0cb6-4a43-b134-50ff88dacf92	6eeba22a-d922-4fc8-abc1-ae8bc9eee928	g.chr2:105979846A>T	ENST00000409807.1	-	5	918	c.584T>A	c.(583-585)cTg>cAg	p.L195Q	FHL2_ENST00000344213.4_Missense_Mutation_p.L305Q|FHL2_ENST00000393352.3_Missense_Mutation_p.L195Q|FHL2_ENST00000336660.5_Missense_Mutation_p.C137S|FHL2_ENST00000322142.8_Missense_Mutation_p.L195Q|FHL2_ENST00000408995.1_Missense_Mutation_p.L195Q|AC012360.6_ENST00000457290.2_RNA|FHL2_ENST00000393353.3_Missense_Mutation_p.L195Q|FHL2_ENST00000409177.1_Missense_Mutation_p.L311Q|FHL2_ENST00000358129.4_Missense_Mutation_p.L195Q			Q14192	FHL2_HUMAN	four and a half LIM domains 2	195	LIM zinc-binding 3. {ECO:0000255|PROSITE- ProRule:PRU00125}.				androgen receptor signaling pathway (GO:0030521)|atrial cardiac muscle cell development (GO:0055014)|cellular lipid metabolic process (GO:0044255)|heart trabecula formation (GO:0060347)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoblast differentiation (GO:0001649)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|ventricular cardiac muscle cell development (GO:0055015)	actin cytoskeleton (GO:0015629)|focal adhesion (GO:0005925)|M band (GO:0031430)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Z disc (GO:0030018)	androgen receptor binding (GO:0050681)|identical protein binding (GO:0042802)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9						CTGCCCAGACAGCTGCTTCCT	0.612																																						dbGAP											0													57.0	45.0	49.0					2																	105979846		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2070.1	2q12.2	2014-09-17			ENSG00000115641	ENSG00000115641			3703	protein-coding gene	gene with protein product		602633				8753811	Standard	NM_201557		Approved	SLIM3, DRAL	uc002tcy.3	Q14192	OTTHUMG00000153120	ENST00000409807.1:c.584T>A	2.37:g.105979846A>T	ENSP00000386665:p.Leu195Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q13229|Q13644|Q2I5I4|Q5TM15|Q9P294	Missense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.L195Q	ENST00000409807.1	37	c.584	CCDS2070.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	28.9|28.9	4.959565|4.959565	0.92791|0.92791	.|.	.|.	ENSG00000115641|ENSG00000115641	ENST00000336660|ENST00000409177;ENST00000344213;ENST00000393353;ENST00000393352;ENST00000322142;ENST00000358129;ENST00000409807;ENST00000408995	T|D;D;D;D;D;D;D;D	0.26660|0.94650	1.72|-3.48;-3.48;-3.48;-3.48;-3.48;-3.48;-3.48;-3.48	5.41|5.41	5.41|5.41	0.78517|0.78517	.|Zinc finger, LIM-type (5);	.|0.000000	.|0.64402	.|D	.|0.000001	D|D	0.98748|0.98748	0.9579|0.9579	H|H	0.99838|0.99838	4.83|4.83	0.34336|0.34336	D|D	0.688215|0.688215	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.91635	.|0.998;0.997;0.999;0.998	D|D	0.99973|0.99973	1.2082|1.2082	7|10	0.08599|0.87932	T|D	0.76|0	.|.	15.7698|15.7698	0.78157|0.78157	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|195;195;305;195	.|Q6I9R8;Q2I5I4;Q2XQU9;Q14192	.|.;.;.;FHL2_HUMAN	S|Q	137|195;305;195;195;195;195;195;195	ENSP00000338270:C137S|ENSP00000386892:L195Q;ENSP00000344266:L305Q;ENSP00000377021:L195Q;ENSP00000377020:L195Q;ENSP00000322909:L195Q;ENSP00000350846:L195Q;ENSP00000386665:L195Q;ENSP00000386633:L195Q	ENSP00000338270:C137S|ENSP00000322909:L195Q	C|L	-|-	1|2	0|0	FHL2|FHL2	105346278|105346278	1.000000|1.000000	0.71417|0.71417	0.989000|0.989000	0.46669|0.46669	0.994000|0.994000	0.84299|0.84299	9.287000|9.287000	0.95975|0.95975	2.170000|2.170000	0.68504|0.68504	0.524000|0.524000	0.50904|0.50904	TGT|CTG	FHL2	-	pfam_Znf_LIM,smart_Znf_LIM	ENSG00000115641		0.612	FHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FHL2	HGNC	protein_coding	OTTHUMT00000329654.1	40	0.00	0	A			105979846	105979846	-1	no_errors	ENST00000322142	ensembl	human	known	69_37n	missense	14	36.36	8	SNP	1.000	T
FIG4	9896	genome.wustl.edu	37	6	110064914	110064914	+	Missense_Mutation	SNP	T	T	A			TCGA-D8-A1JP-01A-11D-A13L-09	TCGA-D8-A1JP-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1e21a355-0cb6-4a43-b134-50ff88dacf92	6eeba22a-d922-4fc8-abc1-ae8bc9eee928	g.chr6:110064914T>A	ENST00000230124.3	+	10	1200	c.1076T>A	c.(1075-1077)cTt>cAt	p.L359H	FIG4_ENST00000441478.2_Missense_Mutation_p.L82H	NM_014845.5	NP_055660.1	Q92562	FIG4_HUMAN	FIG4 phosphoinositide 5-phosphatase	359	SAC. {ECO:0000255|PROSITE- ProRule:PRU00183}.				cell death (GO:0008219)|locomotory behavior (GO:0007626)|myelin assembly (GO:0032288)|negative regulation of myelination (GO:0031642)|neuron development (GO:0048666)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of neuron projection development (GO:0010976)|small molecule metabolic process (GO:0044281)|vacuole organization (GO:0007033)	early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)	phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphatidylinositol-4-phosphate phosphatase activity (GO:0043812)			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)		GTGGCTGCCCTTCACTTTGAC	0.408																																						dbGAP											0													138.0	125.0	129.0					6																	110064914		2203	4300	6503	-	-	-	SO:0001583	missense	0			D87464	CCDS5078.1	6q21	2014-09-17	2014-08-04	2007-07-30	ENSG00000112367	ENSG00000112367			16873	protein-coding gene	gene with protein product		609390	"""KIAA0274"", ""FIG4 homolog (S. cerevisiae)"", ""FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)"""	KIAA0274		9039502, 11274189, 17572665	Standard	NM_014845		Approved	SAC3, hSac3, dJ249I4.1, ALS11, CMT4J	uc003ptt.2	Q92562	OTTHUMG00000015352	ENST00000230124.3:c.1076T>A	6.37:g.110064914T>A	ENSP00000230124:p.Leu359His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53H49|Q5TCS6	Missense_Mutation	SNP	pfam_Syja_N,pfscan_Syja_N	p.L359H	ENST00000230124.3	37	c.1076	CCDS5078.1	6	.	.	.	.	.	.	.	.	.	.	T	23.9	4.469644	0.84533	.	.	ENSG00000112367	ENST00000441478;ENST00000230124	T;T	0.59083	0.29;0.29	4.66	4.66	0.58398	Synaptojanin, N-terminal (2);	0.000000	0.64402	D	0.000003	T	0.47525	0.1450	M	0.76938	2.355	0.58432	D	0.999999	B;P	0.42078	0.007;0.77	B;B	0.42692	0.025;0.395	T	0.51395	-0.8711	10	0.17369	T	0.5	-10.4616	14.39	0.66973	0.0:0.0:0.0:1.0	.	82;359	F5H8L9;Q92562	.;FIG4_HUMAN	H	82;359	ENSP00000399443:L82H;ENSP00000230124:L359H	ENSP00000230124:L359H	L	+	2	0	FIG4	110171607	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.947000	0.70242	1.867000	0.54127	0.528000	0.53228	CTT	FIG4	-	pfam_Syja_N,pfscan_Syja_N	ENSG00000112367		0.408	FIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FIG4	HGNC	protein_coding	OTTHUMT00000041768.1	142	0.00	0	T	NM_014845		110064914	110064914	+1	no_errors	ENST00000230124	ensembl	human	known	69_37n	missense	208	31.75	100	SNP	1.000	A
FNDC1	84624	genome.wustl.edu	37	6	159670141	159670141	+	Silent	SNP	G	G	T			TCGA-D8-A1JP-01A-11D-A13L-09	TCGA-D8-A1JP-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1e21a355-0cb6-4a43-b134-50ff88dacf92	6eeba22a-d922-4fc8-abc1-ae8bc9eee928	g.chr6:159670141G>T	ENST00000297267.9	+	16	4961	c.4761G>T	c.(4759-4761)gtG>gtT	p.V1587V	FNDC1_ENST00000340366.6_Silent_p.V1524V	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1587					cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CACCGAGGGTGATCCCAGAGG	0.453																																						dbGAP											0													44.0	49.0	47.0					6																	159670141		1978	4148	6126	-	-	-	SO:0001819	synonymous_variant	0			AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"""Fibronectin type III domain containing"""	21184	protein-coding gene	gene with protein product		609991	"""fibronectin type III domain containing 2"""	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.4761G>T	6.37:g.159670141G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.D1483Y	ENST00000297267.9	37	c.4447	CCDS47512.1	6	.	.	.	.	.	.	.	.	.	.	G	0.032	-1.328534	0.01309	.	.	ENSG00000164694	ENST00000329629	.	.	.	5.57	3.8	0.43715	.	.	.	.	.	T	0.18676	0.0448	.	.	.	0.21256	N	0.999746	.	.	.	.	.	.	T	0.16541	-1.0399	4	.	.	.	-8.0526	8.9693	0.35897	0.0:0.7701:0.15:0.0799	.	.	.	.	Y	1483	.	.	D	+	1	0	FNDC1	159590131	0.021000	0.18746	0.004000	0.12327	0.011000	0.07611	0.723000	0.25939	0.725000	0.32318	-0.139000	0.14373	GAT	FNDC1	-	NULL	ENSG00000164694		0.453	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FNDC1	HGNC	protein_coding	OTTHUMT00000042897.3	66	0.00	0	G	NM_032532		159670141	159670141	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000329629	ensembl	human	novel	69_37n	missense	61	24.69	20	SNP	0.015	T
FOLR1	2348	genome.wustl.edu	37	11	71907115	71907115	+	Missense_Mutation	SNP	A	A	T			TCGA-D8-A1JP-01A-11D-A13L-09	TCGA-D8-A1JP-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1e21a355-0cb6-4a43-b134-50ff88dacf92	6eeba22a-d922-4fc8-abc1-ae8bc9eee928	g.chr11:71907115A>T	ENST00000393679.1	+	5	1104	c.668A>T	c.(667-669)gAg>gTg	p.E223V	FOLR1_ENST00000393681.2_Missense_Mutation_p.E223V|RP11-807H22.7_ENST00000378140.3_RNA|FOLR1_ENST00000393676.3_Missense_Mutation_p.E223V|FOLR1_ENST00000312293.4_Missense_Mutation_p.E223V			P15328	FOLR1_HUMAN	folate receptor 1 (adult)	223					cell death (GO:0008219)|folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|receptor-mediated endocytosis (GO:0006898)	anchored component of external side of plasma membrane (GO:0031362)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|receptor activity (GO:0004872)			cervix(2)|endometrium(1)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	14					Methotrexate(DB00563)	AACCCCAATGAGGAGGTGGCG	0.607																																						dbGAP											0													82.0	72.0	75.0					11																	71907115		2200	4293	6493	-	-	-	SO:0001583	missense	0			J05013	CCDS8211.1	11q13.3-q14.1	2010-04-09			ENSG00000110195	ENSG00000110195			3791	protein-coding gene	gene with protein product		136430		FOLR		1717147	Standard	NM_000802		Approved		uc001osa.2	P15328		ENST00000393679.1:c.668A>T	11.37:g.71907115A>T	ENSP00000377284:p.Glu223Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53EW2|Q6FGT8|Q6LC90|Q9UCT2	Missense_Mutation	SNP	pfam_Folate_rcpt-like	p.E223V	ENST00000393679.1	37	c.668	CCDS8211.1	11	.	.	.	.	.	.	.	.	.	.	a	9.141	1.013793	0.19277	.	.	ENSG00000110195	ENST00000312293;ENST00000393681;ENST00000393679;ENST00000393676	T;T;T;T	0.74737	-0.87;-0.87;-0.87;-0.87	4.25	4.25	0.50352	.	0.329543	0.33110	N	0.005276	T	0.65698	0.2716	L	0.56280	1.765	0.28107	N	0.931167	B	0.31599	0.33	B	0.32393	0.145	T	0.59461	-0.7450	10	0.33940	T	0.23	-0.1475	7.2358	0.26070	0.8024:0.0:0.0:0.1976	.	223	P15328	FOLR1_HUMAN	V	223	ENSP00000308137:E223V;ENSP00000377286:E223V;ENSP00000377284:E223V;ENSP00000377281:E223V	ENSP00000308137:E223V	E	+	2	0	FOLR1	71584763	1.000000	0.71417	1.000000	0.80357	0.684000	0.39900	1.083000	0.30815	1.893000	0.54813	0.460000	0.39030	GAG	FOLR1	-	NULL	ENSG00000110195		0.607	FOLR1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FOLR1	HGNC	protein_coding	OTTHUMT00000396773.1	117	0.00	0	A	NM_016725		71907115	71907115	+1	no_errors	ENST00000312293	ensembl	human	known	69_37n	missense	49	29.58	21	SNP	1.000	T
GABRA3	2556	genome.wustl.edu	37	X	151514123	151514123	+	Silent	SNP	G	G	T			TCGA-D8-A1JP-01A-11D-A13L-09	TCGA-D8-A1JP-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1e21a355-0cb6-4a43-b134-50ff88dacf92	6eeba22a-d922-4fc8-abc1-ae8bc9eee928	g.chrX:151514123G>T	ENST00000370314.4	-	3	430	c.192C>A	c.(190-192)atC>atA	p.I64I	GABRA3_ENST00000535043.1_Silent_p.I64I	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	64					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|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)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	TGAAGATAGTGATGTTGTCAG	0.443																																					NSCLC(142;2578 2613 10251 16743)	dbGAP											0													116.0	103.0	108.0					X																	151514123		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS14706.1	Xq28	2012-06-22			ENSG00000011677	ENSG00000011677		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4077	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 3"""	305660					Standard	NM_000808		Approved		uc010ntk.1	P34903	OTTHUMG00000024183	ENST00000370314.4:c.192C>A	X.37:g.151514123G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TAF9	Silent	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABBAa3_rcpt,prints_GABAA_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.I64	ENST00000370314.4	37	c.192	CCDS14706.1	X																																																																																			GABRA3	-	tigrfam_Neur_channel	ENSG00000011677		0.443	GABRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRA3	HGNC	protein_coding	OTTHUMT00000060921.1	59	0.00	0	G	NM_000808		151514123	151514123	-1	no_errors	ENST00000370311	ensembl	human	known	69_37n	silent	47	36.49	27	SNP	1.000	T
GEMIN4	50628	genome.wustl.edu	37	17	649578	649578	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A1JP-01A-11D-A13L-09	TCGA-D8-A1JP-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1e21a355-0cb6-4a43-b134-50ff88dacf92	6eeba22a-d922-4fc8-abc1-ae8bc9eee928	g.chr17:649578C>A	ENST00000319004.5	-	2	1823	c.1705G>T	c.(1705-1707)Gtg>Ttg	p.V569L	GEMIN4_ENST00000576778.1_Missense_Mutation_p.V558L	NM_015721.2	NP_056536.2	P57678	GEMI4_HUMAN	gem (nuclear organelle) associated protein 4	569					gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		AGATTGACCACAGCCAGGCTG	0.577																																						dbGAP											0													70.0	78.0	75.0					17																	649578		2050	4199	6249	-	-	-	SO:0001583	missense	0			AF177341	CCDS45559.1	17p13.3	2008-07-18				ENSG00000179409			15717	protein-coding gene	gene with protein product	"""HCC-associated protein 1"", ""component of gems 4"""	606969				10725331	Standard	NM_015721		Approved	HHRF-1, DKFZP434B131, p97, DKFZP434D174, HC56, HCAP1	uc002frs.1	P57678		ENST00000319004.5:c.1705G>T	17.37:g.649578C>A	ENSP00000321706:p.Val569Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9NZS7|Q9UG32|Q9Y4Q2	Missense_Mutation	SNP	NULL	p.V569L	ENST00000319004.5	37	c.1705	CCDS45559.1	17	.	.	.	.	.	.	.	.	.	.	C	16.33	3.092987	0.56075	.	.	ENSG00000179409	ENST00000319004	T	0.15952	2.38	5.84	4.69	0.59074	.	0.058887	0.64402	D	0.000002	T	0.23014	0.0556	M	0.63843	1.955	0.80722	D	1	P	0.40211	0.707	B	0.40825	0.341	T	0.01920	-1.1247	10	0.66056	D	0.02	-23.3685	14.9242	0.70862	0.0:0.9201:0.0:0.0799	.	569	P57678	GEMI4_HUMAN	L	569	ENSP00000321706:V569L	ENSP00000321706:V569L	V	-	1	0	GEMIN4	596328	0.981000	0.34729	0.995000	0.50966	0.812000	0.45895	2.568000	0.45965	2.779000	0.95612	0.591000	0.81541	GTG	GEMIN4	-	NULL	ENSG00000179409		0.577	GEMIN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GEMIN4	HGNC	protein_coding	OTTHUMT00000437181.1	82	0.00	0	C	NM_015721		649578	649578	-1	no_errors	ENST00000319004	ensembl	human	known	69_37n	missense	22	29.03	9	SNP	1.000	A
GALR2	8811	genome.wustl.edu	37	17	74071177	74071177	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A1JP-01A-11D-A13L-09	TCGA-D8-A1JP-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1e21a355-0cb6-4a43-b134-50ff88dacf92	6eeba22a-d922-4fc8-abc1-ae8bc9eee928	g.chr17:74071177C>A	ENST00000329003.3	+	1	303	c.213C>A	c.(211-213)gaC>gaA	p.D71E	SRP68_ENST00000539137.1_5'Flank|SRP68_ENST00000307877.2_5'Flank|SRP68_ENST00000355113.5_5'Flank	NM_003857.2	NP_003848.1	O43603	GALR2_HUMAN	galanin receptor 2	71					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell surface receptor signaling pathway (GO:0007166)|digestion (GO:0007586)|feeding behavior (GO:0007631)|learning or memory (GO:0007611)|multicellular organismal development (GO:0007275)|muscle contraction (GO:0006936)|negative regulation of adenylate cyclase activity (GO:0007194)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of large conductance calcium-activated potassium channel activity (GO:1902608)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galanin receptor activity (GO:0004966)|peptide hormone binding (GO:0017046)			cervix(1)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						GCGTGGCCGACCTGTGTTTCA	0.652																																						dbGAP											0													167.0	103.0	124.0					17																	74071177		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF040630	CCDS11739.1	17q25.3	2012-08-08			ENSG00000182687	ENSG00000182687		"""GPCR / Class A : Galanin receptors"""	4133	protein-coding gene	gene with protein product		603691				9685625, 9832121	Standard	NM_003857		Approved	GALNR2	uc002jqm.1	O43603	OTTHUMG00000167479	ENST00000329003.3:c.213C>A	17.37:g.74071177C>A	ENSP00000329684:p.Asp71Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	A5JUU4|Q32MN8	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_Galanin_rcpt,prints_Galnin_2_rcpt	p.D71E	ENST00000329003.3	37	c.213	CCDS11739.1	17	.	.	.	.	.	.	.	.	.	.	C	21.4	4.146047	0.77888	.	.	ENSG00000182687	ENST00000329003	D	0.87966	-2.32	3.54	1.52	0.23074	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000001	D	0.95121	0.8419	H	0.98407	4.225	0.54753	D	0.99998	D	0.89917	1.0	D	0.97110	1.0	D	0.93757	0.7063	10	0.87932	D	0	.	8.26	0.31779	0.0:0.7129:0.0:0.2871	.	71	O43603	GALR2_HUMAN	E	71	ENSP00000329684:D71E	ENSP00000329684:D71E	D	+	3	2	GALR2	71582772	0.992000	0.36948	1.000000	0.80357	0.993000	0.82548	0.403000	0.20982	0.840000	0.34995	0.462000	0.41574	GAC	GALR2	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000182687		0.652	GALR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALR2	HGNC	protein_coding	OTTHUMT00000394760.1	40	0.00	0	C			74071177	74071177	+1	no_errors	ENST00000329003	ensembl	human	known	69_37n	missense	31	16.22	6	SNP	1.000	A
GFM2	84340	genome.wustl.edu	37	5	74047238	74047238	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1JP-01A-11D-A13L-09	TCGA-D8-A1JP-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1e21a355-0cb6-4a43-b134-50ff88dacf92	6eeba22a-d922-4fc8-abc1-ae8bc9eee928	g.chr5:74047238T>C	ENST00000296805.3	-	6	842	c.385A>G	c.(385-387)Aca>Gca	p.T129A	GFM2_ENST00000427854.2_Missense_Mutation_p.T129A|GFM2_ENST00000345239.2_Missense_Mutation_p.T129A|GFM2_ENST00000509430.1_Missense_Mutation_p.T129A	NM_032380.3	NP_115756.2			G elongation factor, mitochondrial 2											breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)		CAATCAAATGTAACAGCAGCT	0.398																																						dbGAP											0													172.0	163.0	166.0					5																	74047238		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF111808	CCDS4023.1, CCDS4024.1, CCDS47232.1	5q13	2008-02-05			ENSG00000164347	ENSG00000164347			29682	protein-coding gene	gene with protein product		606544				11735030	Standard	NM_001281302		Approved	EFG2, FLJ21661	uc003kdh.1	Q969S9	OTTHUMG00000102058	ENST00000296805.3:c.385A>G	5.37:g.74047238T>C	ENSP00000296805:p.Thr129Ala	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_ProtSyn_GTP-bd,pfam_Transl_elong_EFG/EF2_C,pfam_Transl_elong_EFG/EF2_IV,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_init/rib_B-barrel,superfamily_Elongation_fac_G/III/V,superfamily_Ribosomal_S5_D2-typ_fold,smart_Transl_elong_EFG/EF2_IV,smart_Transl_elong_EFG/EF2_C,prints_ProtSyn_GTP-bd,tigrfam_Small_GTP-bd_dom	p.T129A	ENST00000296805.3	37	c.385	CCDS4023.1	5	.	.	.	.	.	.	.	.	.	.	T	21.7	4.193198	0.78902	.	.	ENSG00000164347	ENST00000296805;ENST00000345239;ENST00000546082;ENST00000509430;ENST00000427854;ENST00000506778	T;T;T;T;T	0.70631	-0.5;-0.5;-0.5;-0.5;-0.5	5.84	4.67	0.58626	Small GTP-binding protein domain (1);Protein synthesis factor, GTP-binding (1);	0.044464	0.85682	D	0.000000	T	0.81978	0.4937	M	0.78637	2.42	0.58432	D	0.999999	D;D;P;D	0.61697	0.97;0.987;0.715;0.99	P;P;P;P	0.62435	0.596;0.797;0.582;0.902	D	0.83857	0.0266	10	0.87932	D	0	-19.2374	13.1762	0.59629	0.0:0.0:0.1333:0.8667	.	129;129;129;129	Q969S9-3;Q969S9-5;Q969S9-2;Q969S9	.;.;.;RRF2M_HUMAN	A	129;129;129;129;129;54	ENSP00000296805:T129A;ENSP00000296804:T129A;ENSP00000427004:T129A;ENSP00000405808:T129A;ENSP00000424877:T54A	ENSP00000296805:T129A	T	-	1	0	GFM2	74082994	1.000000	0.71417	0.744000	0.31058	0.975000	0.68041	6.015000	0.70791	1.008000	0.39264	0.528000	0.53228	ACA	GFM2	-	pfam_ProtSyn_GTP-bd,tigrfam_Small_GTP-bd_dom	ENSG00000164347		0.398	GFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GFM2	HGNC	protein_coding	OTTHUMT00000219860.2	70	0.00	0	T	NM_032380		74047238	74047238	-1	no_errors	ENST00000296805	ensembl	human	known	69_37n	missense	26	55.17	32	SNP	0.994	C
GNA14	9630	genome.wustl.edu	37	9	80043864	80043864	+	Silent	SNP	G	G	A			TCGA-D8-A1JP-01A-11D-A13L-09	TCGA-D8-A1JP-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1e21a355-0cb6-4a43-b134-50ff88dacf92	6eeba22a-d922-4fc8-abc1-ae8bc9eee928	g.chr9:80043864G>A	ENST00000341700.6	-	5	1195	c.682C>T	c.(682-684)Ctg>Ttg	p.L228L	GNA14_ENST00000464095.1_5'UTR	NM_004297.3	NP_004288.1	O95837	GNA14_HUMAN	guanine nucleotide binding protein (G protein), alpha 14	228					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			endometrium(3)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	24						TATTCACTCAGAGCAACCAAG	0.498																																						dbGAP											0													203.0	192.0	195.0					9																	80043864		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF105201	CCDS6657.1	9q21	2008-05-23			ENSG00000156049	ENSG00000156049			4382	protein-coding gene	gene with protein product		604397				10191087, 17620339	Standard	NM_004297		Approved		uc004aku.3	O95837	OTTHUMG00000020058	ENST00000341700.6:c.682C>T	9.37:g.80043864G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B1ALW3	Silent	SNP	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_Q	p.L228	ENST00000341700.6	37	c.682	CCDS6657.1	9																																																																																			GNA14	-	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su	ENSG00000156049		0.498	GNA14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNA14	HGNC	protein_coding	OTTHUMT00000052759.1	75	0.00	0	G			80043864	80043864	-1	no_errors	ENST00000341700	ensembl	human	known	69_37n	silent	68	35.85	38	SNP	0.989	A
GPR156	165829	genome.wustl.edu	37	3	119899984	119899986	+	In_Frame_Del	DEL	GAT	GAT	-			TCGA-D8-A1JP-01A-11D-A13L-09	TCGA-D8-A1JP-10A-01D-A13O-09	GAT	GAT					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1e21a355-0cb6-4a43-b134-50ff88dacf92	6eeba22a-d922-4fc8-abc1-ae8bc9eee928	g.chr3:119899984_119899986delGAT	ENST00000464295.1	-	8	1364_1366	c.919_921delATC	c.(919-921)atcdel	p.I307del	GPR156_ENST00000461057.1_In_Frame_Del_p.I303del|GPR156_ENST00000315843.3_In_Frame_Del_p.I307del			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	307						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled GABA receptor activity (GO:0004965)			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		GGGGAATGAAGATGAAGCAGTTG	0.429																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			AF488739	CCDS2997.1, CCDS54629.1	3q13.33	2012-08-21			ENSG00000175697	ENSG00000175697		"""GPCR / Class C : Orphans"""	20844	protein-coding gene	gene with protein product		610464				12591167	Standard	NM_153002		Approved	PGR28, GABABL	uc011bjf.2	Q8NFN8	OTTHUMG00000159406	ENST00000464295.1:c.919_921delATC	3.37:g.119899984_119899986delGAT	ENSP00000417261:p.Ile307del	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZL66|E9PFZ4|Q14CM1|Q86SN6	In_Frame_Del	DEL	pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3_GABA_rcpt_B	p.I307in_frame_del	ENST00000464295.1	37	c.921_919	CCDS2997.1	3																																																																																			GPR156	-	pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3_GABA_rcpt_B	ENSG00000175697		0.429	GPR156-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPR156	HGNC	protein_coding	OTTHUMT00000355139.1	52	0.00	0	GAT	NM_153002		119899984	119899986	-1	no_errors	ENST00000315843	ensembl	human	known	69_37n	in_frame_del	51	27.14	19	DEL	1.000:1.000:1.000	-
GTF3C1	2975	genome.wustl.edu	37	16	27517381	27517381	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JP-01A-11D-A13L-09	TCGA-D8-A1JP-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1e21a355-0cb6-4a43-b134-50ff88dacf92	6eeba22a-d922-4fc8-abc1-ae8bc9eee928	g.chr16:27517381C>T	ENST00000356183.4	-	10	1624	c.1609G>A	c.(1609-1611)Gga>Aga	p.G537R	GTF3C1_ENST00000561623.1_Missense_Mutation_p.G537R	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	537					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						TCAGCAGCTCCTGGGAAGGAG	0.557																																						dbGAP											0													85.0	76.0	79.0					16																	27517381		2197	4300	6497	-	-	-	SO:0001583	missense	0			U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"""General transcription factors"""	4664	protein-coding gene	gene with protein product		603246	"""general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"""			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.1609G>A	16.37:g.27517381C>T	ENSP00000348510:p.Gly537Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	pfam_TFIIIC_Bblock-bd	p.G537R	ENST00000356183.4	37	c.1609	CCDS32414.1	16	.	.	.	.	.	.	.	.	.	.	C	11.86	1.764618	0.31228	.	.	ENSG00000077235	ENST00000356183;ENST00000388971	T	0.22134	1.97	5.5	4.54	0.55810	.	0.682649	0.14104	N	0.341154	T	0.18964	0.0455	L	0.47716	1.5	0.09310	N	1	B;B	0.12630	0.001;0.006	B;B	0.14023	0.001;0.01	T	0.20505	-1.0273	10	0.18710	T	0.47	-7.2874	10.963	0.47395	0.0:0.9122:0.0:0.0878	.	537;537	Q12789;Q12789-3	TF3C1_HUMAN;.	R	537;535	ENSP00000348510:G537R	ENSP00000348510:G537R	G	-	1	0	GTF3C1	27424882	0.016000	0.18221	0.002000	0.10522	0.019000	0.09904	2.534000	0.45676	1.423000	0.47198	0.655000	0.94253	GGA	GTF3C1	-	NULL	ENSG00000077235		0.557	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF3C1	HGNC	protein_coding	OTTHUMT00000433856.1	100	0.00	0	C	NM_001520		27517381	27517381	-1	no_errors	ENST00000356183	ensembl	human	known	69_37n	missense	43	23.21	13	SNP	0.004	T
HSPA2	3306	genome.wustl.edu	37	14	65008759	65008759	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1JP-01A-11D-A13L-09	TCGA-D8-A1JP-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1e21a355-0cb6-4a43-b134-50ff88dacf92	6eeba22a-d922-4fc8-abc1-ae8bc9eee928	g.chr14:65008759G>A	ENST00000394709.1	+	2	1268	c.1192G>A	c.(1192-1194)Gac>Aac	p.D398N	HSPA2_ENST00000247207.6_Missense_Mutation_p.D398N|RP11-973N13.4_ENST00000554918.1_RNA			P54652	HSP72_HUMAN	heat shock 70kDa protein 2	398					male meiosis (GO:0007140)|male meiosis I (GO:0007141)|negative regulation of inclusion body assembly (GO:0090084)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G2/M transition of mitotic cell cycle (GO:0031662)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)|spermatid development (GO:0007286)|synaptonemal complex disassembly (GO:0070194)	blood microparticle (GO:0072562)|CatSper complex (GO:0036128)|cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|male germ cell nucleus (GO:0001673)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|glycolipid binding (GO:0051861)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		GCTGCTACTCGACGTGACCCC	0.622																																					Pancreas(136;1211 1835 24894 31984 38227)	dbGAP											0													72.0	66.0	68.0					14																	65008759		2203	4300	6503	-	-	-	SO:0001583	missense	0			L26336, BC001752	CCDS9766.1	14q23	2012-10-02	2002-08-29		ENSG00000126803	ENSG00000126803		"""Heat shock proteins / HSP70"""	5235	protein-coding gene	gene with protein product		140560	"""heat shock 70kD protein 2"""				Standard	NM_021979		Approved		uc001xhk.4	P54652	OTTHUMG00000141311	ENST00000394709.1:c.1192G>A	14.37:g.65008759G>A	ENSP00000378199:p.Asp398Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15508|Q53XM3|Q9UE78	Missense_Mutation	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.D398N	ENST00000394709.1	37	c.1192	CCDS9766.1	14	.	.	.	.	.	.	.	.	.	.	G	17.73	3.460968	0.63513	.	.	ENSG00000126803	ENST00000394709;ENST00000247207;ENST00000545222	T;T	0.15718	2.4;2.4	5.11	5.11	0.69529	.	0.000000	0.56097	U	0.000027	T	0.59905	0.2228	H	0.99026	4.405	0.58432	D	0.999994	D	0.71674	0.998	P	0.61940	0.896	T	0.79347	-0.1841	10	0.87932	D	0	-2.2779	18.6095	0.91279	0.0:0.0:1.0:0.0	.	398	P54652	HSP72_HUMAN	N	398;398;172	ENSP00000378199:D398N;ENSP00000247207:D398N	ENSP00000247207:D398N	D	+	1	0	HSPA2	64078512	1.000000	0.71417	1.000000	0.80357	0.385000	0.30292	9.865000	0.99609	2.395000	0.81488	0.558000	0.71614	GAC	HSPA2	-	pfam_Hsp_70_fam,prints_Hsp_70_fam	ENSG00000126803		0.622	HSPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPA2	HGNC	protein_coding	OTTHUMT00000280651.1	19	0.00	0	G			65008759	65008759	+1	no_errors	ENST00000247207	ensembl	human	known	69_37n	missense	18	37.93	11	SNP	1.000	A
IL1RAP	3556	genome.wustl.edu	37	3	190374301	190374301	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A1JP-01A-11D-A13L-09	TCGA-D8-A1JP-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1e21a355-0cb6-4a43-b134-50ff88dacf92	6eeba22a-d922-4fc8-abc1-ae8bc9eee928	g.chr3:190374301G>T	ENST00000317757.3	+	12	2175	c.1969G>T	c.(1969-1971)Ggc>Tgc	p.G657C	RP11-268E23.2_ENST00000609508.1_lincRNA|IL1RAP_ENST00000443369.2_Missense_Mutation_p.G657C	NM_001167931.1	NP_001161403.1	Q9NPH3	IL1AP_HUMAN	interleukin 1 receptor accessory protein	0					immune response (GO:0006955)|inflammatory response (GO:0006954)|interleukin-2 biosynthetic process (GO:0042094)|protein complex assembly (GO:0006461)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)		GATACAAAATGGCACCAGATT	0.468																																						dbGAP											0													52.0	60.0	58.0					3																	190374301		692	1591	2283	-	-	-	SO:0001583	missense	0			AB006537	CCDS3298.1, CCDS46982.1, CCDS54696.1	3q28	2013-01-11			ENSG00000196083	ENSG00000196083		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5995	protein-coding gene	gene with protein product		602626				9479509, 9065432	Standard	NM_002182		Approved	IL-1RAcP, IL1R3, C3orf13	uc003fsq.3	Q9NPH3	OTTHUMG00000156211	ENST00000317757.3:c.1969G>T	3.37:g.190374301G>T	ENSP00000314807:p.Gly657Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B1NLD0|D3DNW0|O14915|Q86WJ7	Missense_Mutation	SNP	pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like,prints_IL1_rcpt_1,prints_IL1_rcpt_I/II	p.G657C	ENST00000317757.3	37	c.1969	CCDS54696.1	3	.	.	.	.	.	.	.	.	.	.	G	17.71	3.456587	0.63401	.	.	ENSG00000196083	ENST00000443369;ENST00000317757	T;T	0.01572	4.76;4.76	5.79	5.79	0.91817	.	.	.	.	.	T	0.04907	0.0132	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.50906	-0.8772	9	0.72032	D	0.01	.	12.2721	0.54712	0.0849:0.0:0.9151:0.0	.	657	Q9NPH3-5	.	C	657	ENSP00000408893:G657C;ENSP00000314807:G657C	ENSP00000314807:G657C	G	+	1	0	IL1RAP	191856995	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.716000	0.47219	2.733000	0.93635	0.655000	0.94253	GGC	IL1RAP	-	NULL	ENSG00000196083		0.468	IL1RAP-006	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	IL1RAP	HGNC	protein_coding	OTTHUMT00000343502.1	61	0.00	0	G			190374301	190374301	+1	no_errors	ENST00000443369	ensembl	human	known	69_37n	missense	65	19.51	16	SNP	1.000	T
ITPK1	3705	genome.wustl.edu	37	14	93424627	93424627	+	Silent	SNP	G	G	A			TCGA-D8-A1JP-01A-11D-A13L-09	TCGA-D8-A1JP-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1e21a355-0cb6-4a43-b134-50ff88dacf92	6eeba22a-d922-4fc8-abc1-ae8bc9eee928	g.chr14:93424627G>A	ENST00000267615.6	-	8	762	c.589C>T	c.(589-591)Ctg>Ttg	p.L197L	ITPK1_ENST00000556603.2_Silent_p.L197L|ITPK1_ENST00000555495.1_Silent_p.L78L|ITPK1_ENST00000556954.1_5'UTR|ITPK1_ENST00000354313.3_Silent_p.L197L			Q13572	ITPK1_HUMAN	inositol-tetrakisphosphate 1-kinase	197	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.				blood coagulation (GO:0007596)|dephosphorylation (GO:0016311)|inositol phosphate metabolic process (GO:0043647)|inositol trisphosphate metabolic process (GO:0032957)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)|inositol tetrakisphosphate 1-kinase activity (GO:0047325)|inositol-1,3,4,5,6-pentakisphosphate 1-phosphatase activity (GO:0052825)|inositol-1,3,4,6-tetrakisphosphate 1-phosphatase activity (GO:0052831)|inositol-1,3,4,6-tetrakisphosphate 6-phosphatase activity (GO:0052830)|inositol-1,3,4-trisphosphate 5-kinase activity (GO:0052726)|inositol-1,3,4-trisphosphate 6-kinase activity (GO:0052725)|inositol-3,4,6-trisphosphate 1-kinase activity (GO:0052835)|isomerase activity (GO:0016853)|magnesium ion binding (GO:0000287)			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)	11		all_cancers(154;0.077)|all_epithelial(191;0.247)		Epithelial(152;0.124)|all cancers(159;0.169)		ACCTTGTACAGGACGGCGTTG	0.567																																						dbGAP											0													166.0	139.0	149.0					14																	93424627		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U51336	CCDS9907.1, CCDS45157.1	14q32.12	2012-08-16	2011-04-28		ENSG00000100605	ENSG00000100605	2.7.1.134		6177	protein-coding gene	gene with protein product		601838	"""inositol 1,3,4-triphosphate 5/6 kinase"""			8662638, 11042108	Standard	NM_014216		Approved		uc001ybh.3	Q13572	OTTHUMG00000171226	ENST00000267615.6:c.589C>T	14.37:g.93424627G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BTL6|Q9H2E7	Silent	SNP	pfam_Inositol_tetrakis-P_1-kinase	p.L197	ENST00000267615.6	37	c.589	CCDS9907.1	14																																																																																			ITPK1	-	pfam_Inositol_tetrakis-P_1-kinase	ENSG00000100605		0.567	ITPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPK1	HGNC	protein_coding	OTTHUMT00000412421.2	102	0.00	0	G	NM_014216		93424627	93424627	-1	no_errors	ENST00000267615	ensembl	human	known	69_37n	silent	31	40.38	21	SNP	1.000	A
KALRN	8997	genome.wustl.edu	37	3	124281865	124281865	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JP-01A-11D-A13L-09	TCGA-D8-A1JP-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1e21a355-0cb6-4a43-b134-50ff88dacf92	6eeba22a-d922-4fc8-abc1-ae8bc9eee928	g.chr3:124281865C>G	ENST00000393496.1	+	2	388	c.224C>G	c.(223-225)cCc>cGc	p.P75R	KALRN_ENST00000360013.3_Missense_Mutation_p.P1702R			O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1702	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GGTCTGGTCCCCAGCAGCGCC	0.652																																						dbGAP											0													51.0	56.0	55.0					3																	124281865		2070	4208	6278	-	-	-	SO:0001583	missense	0			U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000393496.1:c.224C>G	3.37:g.124281865C>G	ENSP00000377134:p.Pro75Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	pfam_DH-domain,pfam_Prot_kinase_cat_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Fibronectin_type3,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain	p.P1702R	ENST00000393496.1	37	c.5105		3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.4|25.4	4.638007|4.638007	0.87760|0.87760	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000354186|ENST00000360013;ENST00000393496	D|D;D	0.86164|0.90563	-2.08|-2.03;-2.69	4.4|4.4	4.4|4.4	0.53042|0.53042	.|Src homology-3 domain (3);	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	D|D	0.94785|0.94785	0.8316|0.8316	M|M	0.71206|0.71206	2.165|2.165	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.999;0.994	D|D	0.95228|0.95228	0.8340|0.8340	8|10	0.87932|0.66056	D|D	0|0.02	.|.	17.546|17.546	0.87861|0.87861	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|75;1702	.|O60229-5;O60229	.|.;KALRN_HUMAN	A|R	1671|1702;75	ENSP00000346122:P1671A|ENSP00000353109:P1702R;ENSP00000377134:P75R	ENSP00000346122:P1671A|ENSP00000353109:P1702R	P|P	+|+	1|2	0|0	KALRN|KALRN	125764555|125764555	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.606000|7.606000	0.82863|0.82863	2.441000|2.441000	0.82636|0.82636	0.655000|0.655000	0.94253|0.94253	CCA|CCC	KALRN	-	superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	ENSG00000160145		0.652	KALRN-002	NOVEL	basic	protein_coding	KALRN	HGNC	protein_coding	OTTHUMT00000258840.2	12	0.00	0	C	NM_003947		124281865	124281865	+1	no_errors	ENST00000360013	ensembl	human	known	69_37n	missense	9	30.77	4	SNP	1.000	G
KCNK13	56659	genome.wustl.edu	37	14	90650936	90650936	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JP-01A-11D-A13L-09	TCGA-D8-A1JP-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1e21a355-0cb6-4a43-b134-50ff88dacf92	6eeba22a-d922-4fc8-abc1-ae8bc9eee928	g.chr14:90650936C>G	ENST00000282146.4	+	2	1257	c.816C>G	c.(814-816)atC>atG	p.I272M		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	272					synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				TCTGCTGCATCTACTCCTTGT	0.532																																						dbGAP											0													106.0	100.0	102.0					14																	90650936		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF287303	CCDS9889.1	14q32.11	2012-03-07				ENSG00000152315		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6275	protein-coding gene	gene with protein product		607367				11060316, 16382106	Standard	NM_022054		Approved	K2p13.1, THIK-1, THIK1	uc001xye.1	Q9HB14		ENST00000282146.4:c.816C>G	14.37:g.90650936C>G	ENSP00000282146:p.Ile272Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B5TJL8|Q96E79	Missense_Mutation	SNP	pfam_Ion_trans_2,prints_2pore_dom_K_chnl_THIK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TASK	p.I272M	ENST00000282146.4	37	c.816	CCDS9889.1	14	.	.	.	.	.	.	.	.	.	.	C	15.81	2.943005	0.53079	.	.	ENSG00000152315	ENST00000282146	T	0.29142	1.58	5.42	0.731	0.18277	Ion transport 2 (1);	0.350509	0.20842	N	0.084697	T	0.40094	0.1103	M	0.71871	2.18	0.58432	D	0.999994	P	0.48503	0.911	P	0.53593	0.73	T	0.17471	-1.0368	10	0.45353	T	0.12	.	7.0456	0.25044	0.0:0.5486:0.239:0.2124	.	272	Q9HB14	KCNKD_HUMAN	M	272	ENSP00000282146:I272M	ENSP00000282146:I272M	I	+	3	3	KCNK13	89720689	0.998000	0.40836	1.000000	0.80357	0.993000	0.82548	0.690000	0.25451	0.216000	0.20781	0.655000	0.94253	ATC	KCNK13	-	pfam_Ion_trans_2,prints_2pore_dom_K_chnl_THIK,prints_2pore_dom_K_chnl_TASK	ENSG00000152315		0.532	KCNK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNK13	HGNC	protein_coding	OTTHUMT00000411251.1	62	0.00	0	C	NM_022054		90650936	90650936	+1	no_errors	ENST00000282146	ensembl	human	known	69_37n	missense	29	43.40	23	SNP	0.991	G
KIAA1244	57221	genome.wustl.edu	37	6	138655269	138655269	+	Silent	SNP	C	C	A			TCGA-D8-A1JP-01A-11D-A13L-09	TCGA-D8-A1JP-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1e21a355-0cb6-4a43-b134-50ff88dacf92	6eeba22a-d922-4fc8-abc1-ae8bc9eee928	g.chr6:138655269C>A	ENST00000251691.4	+	33	5452	c.5286C>A	c.(5284-5286)atC>atA	p.I1762I		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		TCAGATACATCTCTATGCAGA	0.512																																						dbGAP											0													44.0	46.0	45.0					6																	138655269		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	21213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 33"""		"""chromosome 6 open reading frame 92"""	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.5286C>A	6.37:g.138655269C>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_DUF1981_SEC7_assoc,superfamily_ARM-type_fold,superfamily_Sec7,smart_Sec7	p.I1762	ENST00000251691.4	37	c.5286	CCDS5189.2	6																																																																																			KIAA1244	-	NULL	ENSG00000112379		0.512	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KIAA1244	HGNC	protein_coding	OTTHUMT00000042425.4	32	0.00	0	C	NM_020340		138655269	138655269	+1	no_errors	ENST00000251691	ensembl	human	known	69_37n	silent	13	67.50	27	SNP	1.000	A
KRT73	319101	genome.wustl.edu	37	12	53002135	53002135	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A1JP-01A-11D-A13L-09	TCGA-D8-A1JP-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1e21a355-0cb6-4a43-b134-50ff88dacf92	6eeba22a-d922-4fc8-abc1-ae8bc9eee928	g.chr12:53002135C>A	ENST00000305748.3	-	9	1502	c.1468G>T	c.(1468-1470)Ggc>Tgc	p.G490C	RP11-641A6.2_ENST00000549180.1_RNA|RP11-641A6.2_ENST00000551089.1_RNA|RP11-641A6.2_ENST00000552364.1_RNA	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	490	Tail.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		ATGCTGTAGCCCCCGCTGACA	0.632																																						dbGAP											0													54.0	54.0	54.0					12																	53002135		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ508776	CCDS8834.1	12q13.13	2013-06-25			ENSG00000186049	ENSG00000186049		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28928	protein-coding gene	gene with protein product		608247				12648212, 16831889	Standard	NM_175068		Approved	KRT6IRS3, K6IRS3	uc001sas.3	Q86Y46	OTTHUMG00000169746	ENST00000305748.3:c.1468G>T	12.37:g.53002135C>A	ENSP00000307014:p.Gly490Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q32MB2	Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II	p.G490C	ENST00000305748.3	37	c.1468	CCDS8834.1	12	.	.	.	.	.	.	.	.	.	.	C	19.52	3.842418	0.71488	.	.	ENSG00000186049	ENST00000305748;ENST00000552855	D;D	0.84944	-1.8;-1.92	5.15	4.26	0.50523	.	0.137236	0.32593	N	0.005883	D	0.85478	0.5706	M	0.76574	2.34	0.35199	D	0.774055	D	0.53312	0.959	P	0.49301	0.606	D	0.85858	0.1408	10	0.17832	T	0.49	.	9.7613	0.40534	0.0:0.9038:0.0:0.0962	.	490	Q86Y46	K2C73_HUMAN	C	490;235	ENSP00000307014:G490C;ENSP00000449081:G235C	ENSP00000307014:G490C	G	-	1	0	KRT73	51288402	0.886000	0.30341	0.937000	0.37676	0.930000	0.56654	1.595000	0.36708	1.319000	0.45190	0.655000	0.94253	GGC	KRT73	-	NULL	ENSG00000186049		0.632	KRT73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT73	HGNC	protein_coding	OTTHUMT00000405700.1	76	0.00	0	C	NM_175068		53002135	53002135	-1	no_errors	ENST00000305748	ensembl	human	known	69_37n	missense	48	25.00	16	SNP	0.991	A
KRTAP4-5	85289	genome.wustl.edu	37	17	39305785	39305785	+	Missense_Mutation	SNP	A	A	T	rs411367		TCGA-D8-A1JP-01A-11D-A13L-09	TCGA-D8-A1JP-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1e21a355-0cb6-4a43-b134-50ff88dacf92	6eeba22a-d922-4fc8-abc1-ae8bc9eee928	g.chr17:39305785A>T	ENST00000343246.4	-	1	269	c.235T>A	c.(235-237)Tgc>Agc	p.C79S		NM_033188.3	NP_149445.3	Q9BYR2	KRA45_HUMAN	keratin associated protein 4-5	79	26 X 5 AA repeats of C-C-[GRQVCHIEK]- [SPTR]-[VSTQYC].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			tggcagcagcaggggcggcag	0.657																																						dbGAP											0													12.0	18.0	16.0					17																	39305785		2089	4172	6261	-	-	-	SO:0001583	missense	0			AJ406937	CCDS32650.1	17q21.2	2013-06-25			ENSG00000198271	ENSG00000198271		"""Keratin associated proteins"""	18899	protein-coding gene	gene with protein product						11279113	Standard	NM_033188		Approved	KAP4.5	uc002hwb.3	Q9BYR2	OTTHUMG00000133638	ENST00000343246.4:c.235T>A	17.37:g.39305785A>T	ENSP00000340546:p.Cys79Ser	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.C79S	ENST00000343246.4	37	c.235	CCDS32650.1	17	773	0.35393772893772896	210	0.4268292682926829	126	0.34806629834254144	175	0.30594405594405594	262	0.34564643799472294	.	0.010	-1.763522	0.00651	.	.	ENSG00000198271	ENST00000343246	T	0.00534	6.74	2.78	-5.56	0.02529	.	0.768893	0.10092	N	0.717076	T	0.00012	0.0000	N	0.01431	-0.87	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.23297	-1.0192	9	0.02654	T	1	.	5.4481	0.16548	0.6146:0.0:0.1542:0.2312	rs411367;rs6503604	79	Q9BYR2	KRA45_HUMAN	S	79	ENSP00000340546:C79S	ENSP00000340546:C79S	C	-	1	0	KRTAP4-5	36559311	0.977000	0.34250	0.000000	0.03702	0.000000	0.00434	-0.260000	0.08708	-1.272000	0.02427	-2.057000	0.00402	TGC	KRTAP4-5	-	NULL	ENSG00000198271		0.657	KRTAP4-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP4-5	HGNC	protein_coding	OTTHUMT00000257783.1	10	0.00	0	A			39305785	39305785	-1	no_errors	ENST00000343246	ensembl	human	known	69_37n	missense	37	26.92	14	SNP	0.000	T
LAMB4	22798	genome.wustl.edu	37	7	107748102	107748102	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A1JP-01A-11D-A13L-09	TCGA-D8-A1JP-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1e21a355-0cb6-4a43-b134-50ff88dacf92	6eeba22a-d922-4fc8-abc1-ae8bc9eee928	g.chr7:107748102C>A	ENST00000388781.3	-	6	648	c.565G>T	c.(565-567)Gat>Tat	p.D189Y	LAMB4_ENST00000205386.4_Missense_Mutation_p.D189Y|LAMB4_ENST00000418464.1_Missense_Mutation_p.D189Y|LAMB4_ENST00000414450.2_Missense_Mutation_p.D189Y|LAMB4_ENST00000388780.3_Missense_Mutation_p.D189Y	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	189	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						GGTTCAATATCCGAGTATTTG	0.363																																						dbGAP											0													102.0	99.0	100.0					7																	107748102		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"""Laminins"""	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.565G>T	7.37:g.107748102C>A	ENSP00000373433:p.Asp189Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N	p.D189Y	ENST00000388781.3	37	c.565	CCDS34732.1	7	.	.	.	.	.	.	.	.	.	.	C	16.70	3.196209	0.58126	.	.	ENSG00000091128	ENST00000205386;ENST00000388781;ENST00000388780;ENST00000418464;ENST00000414450	T;T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13;-1.13	5.86	4.99	0.66335	Laminin, N-terminal (3);	0.000000	0.53938	D	0.000056	D	0.83487	0.5265	L	0.42245	1.32	0.46564	D	0.9991	D	0.89917	1.0	D	0.72338	0.977	D	0.84626	0.0687	10	0.56958	D	0.05	.	14.9588	0.71141	0.0:0.9317:0.0:0.0683	.	189	A4D0S4	LAMB4_HUMAN	Y	189	ENSP00000205386:D189Y;ENSP00000373433:D189Y;ENSP00000373432:D189Y;ENSP00000402353:D189Y;ENSP00000402265:D189Y	ENSP00000205386:D189Y	D	-	1	0	LAMB4	107535338	0.987000	0.35691	0.062000	0.19696	0.660000	0.38997	5.478000	0.66806	1.484000	0.48361	-0.136000	0.14681	GAT	LAMB4	-	pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N	ENSG00000091128		0.363	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMB4	HGNC	protein_coding	OTTHUMT00000337442.1	82	0.00	0	C	XM_209857		107748102	107748102	-1	no_errors	ENST00000205386	ensembl	human	known	69_37n	missense	58	32.56	28	SNP	0.696	A
LEKR1	389170	genome.wustl.edu	37	3	156570747	156570747	+	5'UTR	SNP	T	T	C			TCGA-D8-A1JP-01A-11D-A13L-09	TCGA-D8-A1JP-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1e21a355-0cb6-4a43-b134-50ff88dacf92	6eeba22a-d922-4fc8-abc1-ae8bc9eee928	g.chr3:156570747T>C	ENST00000470811.1	+	0	353				LEKR1_ENST00000477399.1_Missense_Mutation_p.I80T|LEKR1_ENST00000483177.1_Missense_Mutation_p.I80T|LEKR1_ENST00000356539.4_Missense_Mutation_p.I80T|LEKR1_ENST00000489350.1_Intron|LEKR1_ENST00000491763.1_Missense_Mutation_p.I80T|LEKR1_ENST00000498839.1_Missense_Mutation_p.I80T			Q6ZMV7	LEKR1_HUMAN	leucine, glutamate and lysine rich 1											breast(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	11			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			CAGTACAAAATTGACAACAAA	0.308																																						dbGAP											0													98.0	78.0	84.0					3																	156570747		692	1590	2282	-	-	-	SO:0001623	5_prime_UTR_variant	0			AK131473	CCDS54660.1	3q25.31	2014-02-12	2008-02-21		ENSG00000197980	ENSG00000197980			33765	protein-coding gene	gene with protein product		613536					Standard	NM_001004316		Approved	FLJ16641	uc021xgh.1	Q6ZMV7	OTTHUMG00000160130	ENST00000470811.1:c.-983T>C	3.37:g.156570747T>C		Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	superfamily_Ribosomal_L29	p.I80T	ENST00000470811.1	37	c.239		3	.	.	.	.	.	.	.	.	.	.	T	6.367	0.435812	0.12104	.	.	ENSG00000197980;ENSG00000197980;ENSG00000197980;ENSG00000178110	ENST00000498839;ENST00000483177;ENST00000477399;ENST00000356539	D;D;D;T	0.88354	-2.37;-2.37;-2.37;0.99	5.38	-3.25	0.05079	.	.	.	.	.	T	0.74596	0.3737	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.58261	-0.7667	8	.	.	.	-0.2492	9.2141	0.37337	0.0:0.6417:0.1563:0.2021	.	80	D3DNK7	.	T	80	ENSP00000425746:I80T;ENSP00000421730:I80T;ENSP00000425282:I80T;ENSP00000348936:I80T	.	I	+	2	0	RP11-6F2.7;LEKR1	158053441	0.902000	0.30710	0.626000	0.29213	0.380000	0.30137	0.074000	0.14662	-0.490000	0.06707	0.477000	0.44152	ATT	LEKR1	-	NULL	ENSG00000178110		0.308	LEKR1-010	KNOWN	upstream_ATG|basic	protein_coding	LEKR1	HGNC	protein_coding	OTTHUMT00000351625.3	55	0.00	0	T	NM_001004316		156570747	156570747	+1	no_errors	ENST00000356539	ensembl	human	known	69_37n	missense	60	33.33	30	SNP	0.234	C
LINC00539	100652865	genome.wustl.edu	37	13	21875736	21875736	+	lincRNA	SNP	C	C	T			TCGA-D8-A1JP-01A-11D-A13L-09	TCGA-D8-A1JP-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1e21a355-0cb6-4a43-b134-50ff88dacf92	6eeba22a-d922-4fc8-abc1-ae8bc9eee928	g.chr13:21875736C>T	ENST00000434601.3	-	0	1920				MIPEPP3_ENST00000424756.1_RNA					long intergenic non-protein coding RNA 539																		TCTCGGATTCCTTGTGCAGAG	0.463																																						dbGAP											0																																										-	-	-			0			BG940872		13q12.11	2013-08-05			ENSG00000244054	ENSG00000224429		"""Long non-coding RNAs"""	43672	non-coding RNA	RNA, long non-coding			"""long intergenic non-protein coding RNA 422"""	LINC00422			Standard	NR_103840		Approved				OTTHUMG00000016541		13.37:g.21875736C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000434601.3	37	NULL		13																																																																																			LINC00539	-	-	ENSG00000244054		0.463	LINC00539-004	NOVEL	basic	lincRNA	LINC00539	HGNC	lincRNA	OTTHUMT00000472271.1	22	0.00	0	C			21875736	21875736	+1	no_errors	ENST00000424756	ensembl	human	known	69_37n	rna	15	28.57	6	SNP	0.957	T
LPA	4018	genome.wustl.edu	37	6	160958958	160958958	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A1JP-01A-11D-A13L-09	TCGA-D8-A1JP-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1e21a355-0cb6-4a43-b134-50ff88dacf92	6eeba22a-d922-4fc8-abc1-ae8bc9eee928	g.chr6:160958958C>A	ENST00000316300.5	-	37	5815	c.5771G>T	c.(5770-5772)tGt>tTt	p.C1924F	LPA_ENST00000447678.1_Missense_Mutation_p.C1924F			P08519	APOA_HUMAN	lipoprotein, Lp(a)	4432	Kringle 17. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GGATGGCAGACAAGCTGGCAT	0.502																																						dbGAP											0													109.0	107.0	108.0					6																	160958958		2203	4300	6503	-	-	-	SO:0001583	missense	0			X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.5771G>T	6.37:g.160958958C>A	ENSP00000321334:p.Cys1924Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VTD7|Q9UD88	Missense_Mutation	SNP	pfam_Kringle,pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Kringle,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_Kringle,pfscan_Peptidase_S1_S6	p.C1924F	ENST00000316300.5	37	c.5771	CCDS43523.1	6	.	.	.	.	.	.	.	.	.	.	c	11.16	1.557666	0.27827	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	D;D	0.84800	-1.9;-1.9	2.62	2.62	0.31277	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.93252	0.7850	H	0.96633	3.855	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93924	0.7208	9	0.62326	D	0.03	.	11.3762	0.49730	0.0:1.0:0.0:0.0	.	4432	P08519	APOA_HUMAN	F	1924	ENSP00000321334:C1924F;ENSP00000395608:C1924F	ENSP00000321334:C1924F	C	-	2	0	LPA	160878948	1.000000	0.71417	1.000000	0.80357	0.032000	0.12392	6.063000	0.71162	1.458000	0.47871	0.195000	0.17529	TGT	LPA	-	pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6	ENSG00000198670		0.502	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPA	HGNC	protein_coding	OTTHUMT00000042957.1	92	0.00	0	C	NM_005577		160958958	160958958	-1	no_errors	ENST00000316300	ensembl	human	known	69_37n	missense	128	26.86	47	SNP	1.000	A
LPPR4	9890	genome.wustl.edu	37	1	99764684	99764684	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1JP-01A-11D-A13L-09	TCGA-D8-A1JP-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1e21a355-0cb6-4a43-b134-50ff88dacf92	6eeba22a-d922-4fc8-abc1-ae8bc9eee928	g.chr1:99764684G>A	ENST00000370185.3	+	4	1129	c.632G>A	c.(631-633)tGc>tAc	p.C211Y	LPPR4_ENST00000457765.1_Missense_Mutation_p.C211Y|LPPR4_ENST00000370184.1_Missense_Mutation_p.C53Y	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		211					axonogenesis (GO:0007409)|inner ear development (GO:0048839)|phospholipid dephosphorylation (GO:0046839)	integral component of plasma membrane (GO:0005887)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		CTGACTGTGTGCAAACCAAAC	0.398																																						dbGAP											0													153.0	145.0	148.0					1																	99764684		2203	4300	6503	-	-	-	SO:0001583	missense	0																														ENST00000370185.3:c.632G>A	1.37:g.99764684G>A	ENSP00000359204:p.Cys211Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Missense_Mutation	SNP	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase	p.C211Y	ENST00000370185.3	37	c.632	CCDS757.1	1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.706689	0.89018	.	.	ENSG00000117600	ENST00000370185;ENST00000457765;ENST00000263178;ENST00000370184	T;T;T	0.49432	0.78;0.78;0.78	5.41	5.41	0.78517	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.75982	0.3924	H	0.94698	3.57	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.82655	-0.0350	10	0.87932	D	0	-30.8	19.5802	0.95464	0.0:0.0:1.0:0.0	.	211;211	E7EPS1;Q7Z2D5	.;LPPR4_HUMAN	Y	211;211;211;53	ENSP00000359204:C211Y;ENSP00000394913:C211Y;ENSP00000359203:C53Y	ENSP00000263178:C211Y	C	+	2	0	RP4-788L13.1	99537272	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.712000	0.92718	0.650000	0.86243	TGC	RP4-788L13.1	-	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase	ENSG00000117600		0.398	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPPR4	Clone_based_vega_gene	protein_coding	OTTHUMT00000029670.2	116	0.85	1	G			99764684	99764684	+1	no_errors	ENST00000370185	ensembl	human	known	69_37n	missense	41	57.73	56	SNP	1.000	A
LRRK2	120892	genome.wustl.edu	37	12	40699719	40699719	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JP-01A-11D-A13L-09	TCGA-D8-A1JP-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1e21a355-0cb6-4a43-b134-50ff88dacf92	6eeba22a-d922-4fc8-abc1-ae8bc9eee928	g.chr12:40699719C>T	ENST00000298910.7	+	28	3968	c.3910C>T	c.(3910-3912)Ctt>Ttt	p.L1304F		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1304					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TGAACTGCATCTTAACTTTGA	0.308																																						dbGAP											0													66.0	63.0	64.0					12																	40699719		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.3910C>T	12.37:g.40699719C>T	ENSP00000298910:p.Leu1304Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,tigrfam_Small_GTP-bd_dom	p.L1304F	ENST00000298910.7	37	c.3910	CCDS31774.1	12	.	.	.	.	.	.	.	.	.	.	C	22.2	4.259715	0.80246	.	.	ENSG00000188906	ENST00000298910	T	0.27890	1.64	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.43456	0.1248	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.33189	-0.9878	10	0.87932	D	0	.	13.2077	0.59807	0.0:0.9274:0.0:0.0726	.	1304;1304	Q17RV3;Q5S007	.;LRRK2_HUMAN	F	1304	ENSP00000298910:L1304F	ENSP00000298910:L1304F	L	+	1	0	LRRK2	38985986	1.000000	0.71417	0.953000	0.39169	0.879000	0.50718	5.693000	0.68264	2.732000	0.93576	0.655000	0.94253	CTT	LRRK2	-	NULL	ENSG00000188906		0.308	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRK2	HGNC	protein_coding	OTTHUMT00000277179.1	62	0.00	0	C	XM_058513		40699719	40699719	+1	no_errors	ENST00000298910	ensembl	human	known	69_37n	missense	42	38.24	26	SNP	0.999	T
LY9	4063	genome.wustl.edu	37	1	160769623	160769623	+	Missense_Mutation	SNP	A	A	C			TCGA-D8-A1JP-01A-11D-A13L-09	TCGA-D8-A1JP-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1e21a355-0cb6-4a43-b134-50ff88dacf92	6eeba22a-d922-4fc8-abc1-ae8bc9eee928	g.chr1:160769623A>C	ENST00000263285.6	+	2	235	c.205A>C	c.(205-207)Atc>Ctc	p.I69L	LY9_ENST00000392203.4_Missense_Mutation_p.I69L|LY9_ENST00000341032.4_Missense_Mutation_p.I69L|LY9_ENST00000368040.1_5'UTR|LY9_ENST00000368039.2_Missense_Mutation_p.I69L|LY9_ENST00000471816.1_3'UTR|LY9_ENST00000368037.5_Missense_Mutation_p.I69L|LY9_ENST00000368041.2_Missense_Mutation_p.I29L			Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	69	Ig-like V-type 1.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CCCCCTAAACATCTCAGTAGA	0.488																																						dbGAP											0													85.0	82.0	83.0					1																	160769623		2203	4300	6503	-	-	-	SO:0001583	missense	0			L42621	CCDS30916.1, CCDS30917.1, CCDS65695.1, CCDS65696.1	1q23.3	2013-01-11			ENSG00000122224	ENSG00000122224		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6730	protein-coding gene	gene with protein product		600684				8537117, 7797269	Standard	NM_001261457		Approved	CD229, mLY9, SLAMF3, hly9	uc001fwu.4	Q9HBG7	OTTHUMG00000024007	ENST00000263285.6:c.205A>C	1.37:g.160769623A>C	ENSP00000263285:p.Ile69Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7N3|Q14775|Q5VYI3|Q6P2J4|Q9H4N5|Q9NQ24	Missense_Mutation	SNP	smart_Ig_sub,pfscan_Ig-like	p.I69L	ENST00000263285.6	37	c.205	CCDS30916.1	1	.	.	.	.	.	.	.	.	.	.	A	16.91	3.252983	0.59212	.	.	ENSG00000122224	ENST00000368041;ENST00000341032;ENST00000263285;ENST00000542780;ENST00000368039;ENST00000392203;ENST00000368037	T;T;T;T	0.63096	2.08;2.0;2.0;-0.02	4.04	2.86	0.33363	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.536026	0.16499	N	0.211763	T	0.55178	0.1904	L	0.47190	1.495	0.19300	N	0.999979	D;P;P;P;D;D	0.58620	0.983;0.948;0.904;0.85;0.963;0.983	D;P;P;P;D;D	0.73708	0.981;0.521;0.847;0.692;0.93;0.981	T	0.43589	-0.9382	10	0.46703	T	0.11	-20.2807	6.5996	0.22693	0.7868:0.0:0.0:0.2132	.	69;29;69;69;69;69	B4E0J5;Q5VYH9;E7EME5;Q9HBG7-2;Q9HBG7;Q6P2J4	.;.;.;.;LY9_HUMAN;.	L	69;69;69;69;69;29;29	ENSP00000357020:I69L;ENSP00000342921:I69L;ENSP00000263285:I69L;ENSP00000357018:I69L	ENSP00000263285:I69L	I	+	1	0	LY9	159036247	0.004000	0.15560	0.004000	0.12327	0.198000	0.23893	0.445000	0.21677	0.658000	0.30925	0.460000	0.39030	ATC	LY9	-	smart_Ig_sub	ENSG00000122224		0.488	LY9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LY9	HGNC	protein_coding	OTTHUMT00000060457.3	42	0.00	0	A	NM_002348		160769623	160769623	+1	no_errors	ENST00000263285	ensembl	human	known	69_37n	missense	88	19.27	21	SNP	0.004	C
MCHR2	84539	genome.wustl.edu	37	6	100369062	100369062	+	Silent	SNP	G	G	A			TCGA-D8-A1JP-01A-11D-A13L-09	TCGA-D8-A1JP-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1e21a355-0cb6-4a43-b134-50ff88dacf92	6eeba22a-d922-4fc8-abc1-ae8bc9eee928	g.chr6:100369062G>A	ENST00000281806.2	-	6	1091	c.777C>T	c.(775-777)gtC>gtT	p.V259V	MCHR2_ENST00000369212.2_Silent_p.V259V	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	259						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		TCAGGATAAAGACTACCACCA	0.468																																						dbGAP											0													219.0	199.0	206.0					6																	100369062		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF347063	CCDS5044.1	6q16	2012-08-08	2006-02-15	2006-02-15	ENSG00000152034	ENSG00000152034		"""GPCR / Class A : MCH receptors"""	20867	protein-coding gene	gene with protein product		606111	"""G protein-coupled receptor 145"""	GPR145		11355873, 11274220	Standard	NM_032503		Approved	SLT, MCH2, MCH2R	uc003pqi.1	Q969V1	OTTHUMG00000015270	ENST00000281806.2:c.777C>T	6.37:g.100369062G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KVW4|E1P5D7|Q5VTV7|Q6Q377|Q9BXA8	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_MCH2_receptor,prints_7TM_GPCR_Rhodpsn,prints_MCH_rcpt	p.V259	ENST00000281806.2	37	c.777	CCDS5044.1	6																																																																																			MCHR2	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000152034		0.468	MCHR2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	MCHR2	HGNC	protein_coding	OTTHUMT00000041620.2	122	0.00	0	G	NM_032503		100369062	100369062	-1	no_errors	ENST00000281806	ensembl	human	known	69_37n	silent	259	18.30	58	SNP	0.943	A
MIPEP	4285	genome.wustl.edu	37	13	24438286	24438286	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1JP-01A-11D-A13L-09	TCGA-D8-A1JP-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1e21a355-0cb6-4a43-b134-50ff88dacf92	6eeba22a-d922-4fc8-abc1-ae8bc9eee928	g.chr13:24438286G>A	ENST00000382172.3	-	8	1084	c.986C>T	c.(985-987)tCt>tTt	p.S329F		NM_005932.3	NP_005923	Q99797	MIPEP_HUMAN	mitochondrial intermediate peptidase	329					protein processing involved in protein targeting to mitochondrion (GO:0006627)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(12)|prostate(2)|skin(1)	27		all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14)		all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232)		TAACCTTTCAGAAAGTTTGTC	0.259																																						dbGAP											0													32.0	31.0	32.0					13																	24438286		2186	4278	6464	-	-	-	SO:0001583	missense	0				CCDS9303.1	13q12	2011-01-17			ENSG00000027001	ENSG00000027001	3.4.24.59		7104	protein-coding gene	gene with protein product		602241				9073519	Standard	NM_005932		Approved	MIP	uc001uox.4	Q99797	OTTHUMG00000016573	ENST00000382172.3:c.986C>T	13.37:g.24438286G>A	ENSP00000371607:p.Ser329Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JV15|Q5T9Q9|Q96G65	Missense_Mutation	SNP	pfam_Pept_M3A_M3B	p.S329F	ENST00000382172.3	37	c.986	CCDS9303.1	13	.	.	.	.	.	.	.	.	.	.	G	14.17	2.454675	0.43634	.	.	ENSG00000027001	ENST00000382172	T	0.07216	3.21	5.41	2.69	0.31865	Neurolysin/Thimet oligopeptidase, domain 2 (1);	0.361006	0.32952	N	0.005443	T	0.09818	0.0241	L	0.55481	1.735	0.28631	N	0.907662	P	0.38617	0.64	B	0.42738	0.396	T	0.14254	-1.0479	10	0.72032	D	0.01	.	3.1868	0.06603	0.1432:0.2561:0.4686:0.1321	.	329	Q99797	MIPEP_HUMAN	F	329	ENSP00000371607:S329F	ENSP00000371607:S329F	S	-	2	0	MIPEP	23336286	0.759000	0.28416	0.952000	0.39060	0.960000	0.62799	0.740000	0.26188	0.241000	0.21283	0.557000	0.71058	TCT	MIPEP	-	pfam_Pept_M3A_M3B	ENSG00000027001		0.259	MIPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIPEP	HGNC	protein_coding	OTTHUMT00000044169.1	42	0.00	0	G			24438286	24438286	-1	no_errors	ENST00000382172	ensembl	human	known	69_37n	missense	49	24.62	16	SNP	0.796	A
KMT2C	58508	genome.wustl.edu	37	7	151960149	151960149	+	Nonsense_Mutation	SNP	A	A	T			TCGA-D8-A1JP-01A-11D-A13L-09	TCGA-D8-A1JP-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1e21a355-0cb6-4a43-b134-50ff88dacf92	6eeba22a-d922-4fc8-abc1-ae8bc9eee928	g.chr7:151960149A>T	ENST00000262189.6	-	9	1469	c.1251T>A	c.(1249-1251)tgT>tgA	p.C417*	KMT2C_ENST00000355193.2_Nonsense_Mutation_p.C417*	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	417					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										CTGGTTGAAGACAAAAAGTAT	0.323																																						dbGAP											0													104.0	94.0	97.0					7																	151960149		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.1251T>A	7.37:g.151960149A>T	ENSP00000262189:p.Cys417*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Nonsense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.C417*	ENST00000262189.6	37	c.1251	CCDS5931.1	7	.	.	.	.	.	.	.	.	.	.	A	40	7.930426	0.98568	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	.	.	.	4.65	4.65	0.58169	.	0.000000	0.49305	D	0.000148	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.0321	0.36264	0.9169:0.0:0.0831:0.0	.	.	.	.	X	417	.	ENSP00000262189:C417X	C	-	3	2	MLL3	151591082	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.066000	0.41452	1.866000	0.54105	0.455000	0.32223	TGT	MLL3	-	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Znf_RING,pfscan_Znf_PHD-finger	ENSG00000055609		0.323	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	HGNC	protein_coding	OTTHUMT00000318887.3	77	0.00	0	A			151960149	151960149	-1	no_errors	ENST00000355193	ensembl	human	known	69_37n	nonsense	63	20.25	16	SNP	1.000	T
MLLT1	4298	genome.wustl.edu	37	19	6270707	6270707	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JP-01A-11D-A13L-09	TCGA-D8-A1JP-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1e21a355-0cb6-4a43-b134-50ff88dacf92	6eeba22a-d922-4fc8-abc1-ae8bc9eee928	g.chr19:6270707C>G	ENST00000252674.7	-	2	239	c.76G>C	c.(76-78)Gag>Cag	p.E26Q		NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1	26	YEATS. {ECO:0000255|PROSITE- ProRule:PRU00376}.				negative regulation of protein kinase activity (GO:0006469)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	DNA binding (GO:0003677)			endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						GTGAACCCCTCCGTGGTGGGC	0.602			T	MLL	AL						OREG0025198	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP		Dom	yes		19	19p13.3	4298	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 (ENL)"""		L	0													118.0	87.0	98.0					19																	6270707		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS12160.1	19p13.3	2012-10-04	2001-11-28		ENSG00000130382	ENSG00000130382			7134	protein-coding gene	gene with protein product		159556	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 1"""				Standard	XM_005259561		Approved	ENL, LTG19, YEATS1	uc002mek.3	Q03111	OTTHUMG00000180757	ENST00000252674.7:c.76G>C	19.37:g.6270707C>G	ENSP00000252674:p.Glu26Gln	Somatic	632	WXS	Illumina GAIIx	Phase_IV	Q14768	Missense_Mutation	SNP	pfam_YEATS,pfscan_YEATS	p.E26Q	ENST00000252674.7	37	c.76	CCDS12160.1	19	.	.	.	.	.	.	.	.	.	.	C	27.1	4.797598	0.90538	.	.	ENSG00000130382	ENST00000252674	.	.	.	5.41	5.41	0.78517	.	0.106322	0.64402	D	0.000007	T	0.65943	0.2740	L	0.48218	1.51	0.80722	D	1	P	0.37525	0.598	P	0.46629	0.522	T	0.65516	-0.6149	9	0.45353	T	0.12	-35.2904	16.6911	0.85322	0.0:1.0:0.0:0.0	.	26	Q03111	ENL_HUMAN	Q	26	.	ENSP00000252674:E26Q	E	-	1	0	MLLT1	6221707	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.726000	0.84824	2.537000	0.85549	0.561000	0.74099	GAG	MLLT1	-	pfscan_YEATS	ENSG00000130382		0.602	MLLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLLT1	HGNC	protein_coding	OTTHUMT00000452909.1	36	0.00	0	C	NM_005934		6270707	6270707	-1	no_errors	ENST00000252674	ensembl	human	known	69_37n	missense	16	44.83	13	SNP	1.000	G
MON2	23041	genome.wustl.edu	37	12	62929447	62929447	+	Missense_Mutation	SNP	A	A	C			TCGA-D8-A1JP-01A-11D-A13L-09	TCGA-D8-A1JP-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1e21a355-0cb6-4a43-b134-50ff88dacf92	6eeba22a-d922-4fc8-abc1-ae8bc9eee928	g.chr12:62929447A>C	ENST00000393632.2	+	14	2249	c.1858A>C	c.(1858-1860)Act>Cct	p.T620P	MON2_ENST00000280379.6_Missense_Mutation_p.T620P|MON2_ENST00000552738.1_Intron|MON2_ENST00000393630.3_Missense_Mutation_p.T620P|MON2_ENST00000546600.1_Missense_Mutation_p.T620P|MON2_ENST00000393629.2_Missense_Mutation_p.T620P|MON2_ENST00000552115.1_Missense_Mutation_p.T620P	NM_015026.2	NP_055841.2	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	620					actin cytoskeleton organization (GO:0030036)|Golgi to endosome transport (GO:0006895)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		TTATGCTCTTACTGTATTGAA	0.428																																						dbGAP											0													129.0	121.0	124.0					12																	62929447		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS31849.1, CCDS61175.1, CCDS61177.1, CCDS61178.1	12q14.1	2014-08-12	2006-04-04		ENSG00000061987	ENSG00000061987			29177	protein-coding gene	gene with protein product			"""MON2 homolog (yeast)"""			16301316, 24285343	Standard	NM_015026		Approved	KIAA1040	uc001sre.3	Q7Z3U7	OTTHUMG00000169992	ENST00000393632.2:c.1858A>C	12.37:g.62929447A>C	ENSP00000377252:p.Thr620Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A5D8U7|A7E2Y0|B9EGP5|F8VWA6|F8W1Z6|Q86TA2|Q8N3I5|Q8NAI0|Q8NHE2|Q9UPW1	Missense_Mutation	SNP	pfam_DUF1981_SEC7_assoc,superfamily_ARM-type_fold	p.T620P	ENST00000393632.2	37	c.1858	CCDS31849.1	12	.	.	.	.	.	.	.	.	.	.	A	11.45	1.643854	0.29246	.	.	ENSG00000061987	ENST00000393632;ENST00000393630;ENST00000280379;ENST00000546600;ENST00000261188;ENST00000393629;ENST00000552115	T;T;T;T;T;T	0.56611	0.46;0.45;0.46;0.46;0.46;0.47	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.48943	0.1528	L	0.52364	1.645	0.80722	D	1	B;B;B	0.27286	0.109;0.049;0.174	B;B;B	0.29077	0.045;0.067;0.098	T	0.42378	-0.9455	9	.	.	.	-18.8192	15.6303	0.76904	1.0:0.0:0.0:0.0	.	620;620;620	B9EGP5;F8W1Z6;Q7Z3U7-4	.;.;.	P	620;620;620;620;548;620;620	ENSP00000377252:T620P;ENSP00000377250:T620P;ENSP00000280379:T620P;ENSP00000447407:T620P;ENSP00000377249:T620P;ENSP00000446635:T620P	.	T	+	1	0	MON2	61215714	1.000000	0.71417	0.920000	0.36463	0.057000	0.15508	9.181000	0.94874	2.139000	0.66308	0.533000	0.62120	ACT	MON2	-	NULL	ENSG00000061987		0.428	MON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MON2	HGNC	protein_coding	OTTHUMT00000406767.3	69	0.00	0	A	NM_015026		62929447	62929447	+1	no_errors	ENST00000393630	ensembl	human	known	69_37n	missense	75	21.88	21	SNP	0.998	C
MTHFS	10588	genome.wustl.edu	37	15	80181544	80181544	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JP-01A-11D-A13L-09	TCGA-D8-A1JP-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1e21a355-0cb6-4a43-b134-50ff88dacf92	6eeba22a-d922-4fc8-abc1-ae8bc9eee928	g.chr15:80181544C>G	ENST00000258874.3	-	2	330	c.270G>C	c.(268-270)atG>atC	p.M90I	ST20-MTHFS_ENST00000479961.1_Missense_Mutation_p.M66I|MTHFS_ENST00000559722.1_5'UTR|ST20-MTHFS_ENST00000494999.1_5'UTR	NM_006441.3	NP_006432.1	P49914	MTHFS_HUMAN	5,10-methenyltetrahydrofolate synthetase (5-formyltetrahydrofolate cyclo-ligase)	90					formate metabolic process (GO:0015942)|tetrahydrofolate metabolic process (GO:0046653)	cytoplasm (GO:0005737)	5-formyltetrahydrofolate cyclo-ligase activity (GO:0030272)|ATP binding (GO:0005524)|folic acid binding (GO:0005542)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(1)|liver(1)	5				all cancers(203;0.00467)		TCACCATATCCATGTGATTGC	0.463																																						dbGAP											0													198.0	175.0	183.0					15																	80181544		2203	4300	6503	-	-	-	SO:0001583	missense	0			L38928	CCDS10311.1	15q24.3	2014-05-15			ENSG00000136371	ENSG00000136371	6.3.3.2		7437	protein-coding gene	gene with protein product		604197				8522195	Standard	NM_006441		Approved	HsT19268	uc002bex.4	P49914	OTTHUMG00000144174	ENST00000258874.3:c.270G>C	15.37:g.80181544C>G	ENSP00000258874:p.Met90Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	H3BQ75	Missense_Mutation	SNP	pfam_FTHF_cligase,pirsf_FTHF_cligase,tigrfam_FTHF_cligase	p.M90I	ENST00000258874.3	37	c.270	CCDS10311.1	15	.	.	.	.	.	.	.	.	.	.	C	19.55	3.848895	0.71603	.	.	ENSG00000136371	ENST00000258874	T	0.45668	0.89	5.33	5.33	0.75918	5-formyltetrahydrofolate cyclo-ligase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.68851	0.3046	M	0.91920	3.255	0.80722	D	1	D	0.63046	0.992	P	0.62649	0.905	T	0.76157	-0.3062	10	0.66056	D	0.02	-37.8968	14.2759	0.66179	0.0:0.9264:0.0:0.0736	.	90	P49914	MTHFS_HUMAN	I	90	ENSP00000258874:M90I	ENSP00000258874:M90I	M	-	3	0	MTHFS	77968599	1.000000	0.71417	1.000000	0.80357	0.546000	0.35178	5.123000	0.64703	2.505000	0.84491	0.655000	0.94253	ATG	MTHFS	-	pfam_FTHF_cligase,pirsf_FTHF_cligase,tigrfam_FTHF_cligase	ENSG00000136371		0.463	MTHFS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTHFS	HGNC	protein_coding	OTTHUMT00000291374.2	126	0.00	0	C	NM_006441		80181544	80181544	-1	no_errors	ENST00000258874	ensembl	human	known	69_37n	missense	136	28.80	55	SNP	1.000	G
MUC12	10071	genome.wustl.edu	37	7	100634488	100634488	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JP-01A-11D-A13L-09	TCGA-D8-A1JP-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1e21a355-0cb6-4a43-b134-50ff88dacf92	6eeba22a-d922-4fc8-abc1-ae8bc9eee928	g.chr7:100634488C>T	ENST00000379442.3	+	5	1073	c.1073C>T	c.(1072-1074)tCa>tTa	p.S358L	MUC12_ENST00000536621.1_Missense_Mutation_p.S215L			Q9UKN1	MUC12_HUMAN	mucin 12, cell surface associated	358	28 X 19 AA approximate tandem repeats of E-E-S-X-X-X-H-X-X-P-X-X-T-X-T-X-X-X-P.|Ser-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|regulation of cell growth (GO:0001558)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)				breast(6)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)|stomach(13)	25						ACCACACCATCATCCCTTGGT	0.547																																						dbGAP											0													396.0	320.0	343.0					7																	100634488		692	1591	2283	-	-	-	SO:0001583	missense	0			AF147790, AF147791	CCDS55139.1	7q22	2007-01-17	2006-03-14		ENSG00000205277	ENSG00000205277		"""Mucins"""	7510	protein-coding gene	gene with protein product		604609	"""mucin 11"""	MUC11		10463611	Standard	NM_001164462		Approved		uc003uxo.3	Q9UKN1	OTTHUMG00000157042	ENST00000379442.3:c.1073C>T	7.37:g.100634488C>T	ENSP00000368755:p.Ser358Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A6ND38|F5GWV9|Q9UKN0	Missense_Mutation	SNP	pfam_SEA	p.S358L	ENST00000379442.3	37	c.1073		7	.	.	.	.	.	.	.	.	.	.	-	7.901	0.734387	0.15574	.	.	ENSG00000205277	ENST00000379442;ENST00000536621	T;T	0.12569	2.67;2.67	0.713	-0.459	0.12179	.	.	.	.	.	T	0.05273	0.0140	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.37888	-0.9686	7	0.31617	T	0.26	.	1.6953	0.02860	0.3229:0.4061:0.0:0.271	.	.	.	.	L	358;215	ENSP00000368755:S358L;ENSP00000441929:S215L	ENSP00000368755:S358L	S	+	2	0	MUC12	100421208	0.000000	0.05858	0.000000	0.03702	0.049000	0.14656	0.454000	0.21827	-0.191000	0.10448	0.184000	0.17185	TCA	MUC12	-	NULL	ENSG00000205277		0.547	MUC12-001	NOVEL	basic|appris_candidate_longest	protein_coding	MUC12	HGNC	protein_coding	OTTHUMT00000347234.1	357	0.00	0	C	XM_379904		100634488	100634488	+1	no_errors	ENST00000379442	ensembl	human	known	69_37n	missense	253	34.46	133	SNP	0.000	T
MUC16	94025	genome.wustl.edu	37	19	9089493	9089493	+	Silent	SNP	G	G	T			TCGA-D8-A1JP-01A-11D-A13L-09	TCGA-D8-A1JP-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1e21a355-0cb6-4a43-b134-50ff88dacf92	6eeba22a-d922-4fc8-abc1-ae8bc9eee928	g.chr19:9089493G>T	ENST00000397910.4	-	1	2525	c.2322C>A	c.(2320-2322)acC>acA	p.T774T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	774	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CATTGCTTAGGGTCATGGAGG	0.498																																						dbGAP											0													221.0	219.0	220.0					19																	9089493		2057	4214	6271	-	-	-	SO:0001819	synonymous_variant	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.2322C>A	19.37:g.9089493G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZQW5|Q96RK2	Silent	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.T774	ENST00000397910.4	37	c.2322	CCDS54212.1	19																																																																																			MUC16	-	NULL	ENSG00000181143		0.498	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	152	0.00	0	G	NM_024690		9089493	9089493	-1	no_errors	ENST00000397910	ensembl	human	known	69_37n	silent	125	27.33	47	SNP	0.000	T
NCAN	1463	genome.wustl.edu	37	19	19327774	19327774	+	Silent	SNP	G	G	T			TCGA-D8-A1JP-01A-11D-A13L-09	TCGA-D8-A1JP-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1e21a355-0cb6-4a43-b134-50ff88dacf92	6eeba22a-d922-4fc8-abc1-ae8bc9eee928	g.chr19:19327774G>T	ENST00000252575.6	+	2	111	c.12G>T	c.(10-12)ccG>ccT	p.P4P		NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	4					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|regulation of synapse structural plasticity (GO:0051823)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)		Hyaluronan(DB08818)	TGGGGGCCCCGTTTGTCTGGG	0.582																																						dbGAP											0													145.0	150.0	148.0					19																	19327774		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"", ""Endogenous ligands"""	2465	protein-coding gene	gene with protein product	"""neurocan proteoglycan"""	600826	"""chondroitin sulfate proteoglycan 3"""	CSPG3		1326557, 21353194	Standard	NM_004386		Approved		uc002nlz.3	O14594		ENST00000252575.6:c.12G>T	19.37:g.19327774G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9UPK6	Silent	SNP	pfam_Link,pfam_C-type_lectin,pfam_Sushi_SCR_CCP,pfam_Ig_V-set,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Link,smart_EGF-like_Ca-bd,smart_EGF-like,smart_C-type_lectin,smart_Sushi_SCR_CCP,prints_Link,prints_AntifreezeII,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like	p.P4	ENST00000252575.6	37	c.12	CCDS12397.1	19																																																																																			NCAN	-	NULL	ENSG00000130287		0.582	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAN	HGNC	protein_coding	OTTHUMT00000460111.2	142	0.00	0	G	NM_004386		19327774	19327774	+1	no_errors	ENST00000252575	ensembl	human	known	69_37n	silent	87	28.69	35	SNP	0.001	T
NKAIN2	154215	genome.wustl.edu	37	6	124676413	124676413	+	Splice_Site	SNP	T	T	C			TCGA-D8-A1JP-01A-11D-A13L-09	TCGA-D8-A1JP-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1e21a355-0cb6-4a43-b134-50ff88dacf92	6eeba22a-d922-4fc8-abc1-ae8bc9eee928	g.chr6:124676413T>C	ENST00000368417.1	+	3	253	c.193T>C	c.(193-195)Tat>Cat	p.Y65H	NKAIN2_ENST00000546092.1_Splice_Site_p.Y65H|NKAIN2_ENST00000545433.1_Splice_Site_p.Y50H|NKAIN2_ENST00000476571.1_3'UTR|NKAIN2_ENST00000368416.1_Splice_Site_p.Y65H	NM_001040214.1	NP_001035304.1	Q5VXU1	NKAI2_HUMAN	Na+/K+ transporting ATPase interacting 2	65						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(1)|large_intestine(3)|lung(12)|skin(2)	19				GBM - Glioblastoma multiforme(226;0.104)		TTCTCTACAGTATGCTGTCTG	0.373																																						dbGAP											0													281.0	260.0	267.0					6																	124676413		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AB070452	CCDS34526.1	6q21	2008-02-05	2007-10-04	2007-10-04	ENSG00000188580	ENSG00000188580		"""Na+/K+ transporting ATPase interacting"""	16443	protein-coding gene	gene with protein product		609758	"""T-cell lymphoma breakpoint associated target 1"""	TCBA1		17606467	Standard	XM_005266833		Approved	FAM77B	uc003pzo.3	Q5VXU1	OTTHUMG00000015500	ENST00000368417.1:c.193-1T>C	6.37:g.124676413T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IYR4|Q8TF67	Missense_Mutation	SNP	pfam_Na/K-Atpase_Interacting	p.Y65H	ENST00000368417.1	37	c.193	CCDS34526.1	6	.	.	.	.	.	.	.	.	.	.	T	17.60	3.430242	0.62844	.	.	ENSG00000188580	ENST00000368416;ENST00000368417;ENST00000546092;ENST00000539866;ENST00000545433	T;T;T;T	0.21543	2.0;2.0;2.0;2.0	5.74	5.74	0.90152	.	0.065280	0.64402	D	0.000006	T	0.42131	0.1189	M	0.82323	2.585	0.58432	D	0.999995	D;D;B;P	0.69078	0.997;0.997;0.316;0.887	D;D;B;P	0.75484	0.986;0.986;0.25;0.551	T	0.43360	-0.9396	9	.	.	.	-12.3647	16.0378	0.80642	0.0:0.0:0.0:1.0	.	65;64;65;65	F5GY48;Q5VXU1-3;Q5VXU1;Q5VXU1-2	.;.;NKAI2_HUMAN;.	H	65;65;65;64;50	ENSP00000357401:Y65H;ENSP00000357402:Y65H;ENSP00000440287:Y65H;ENSP00000437798:Y50H	.	Y	+	1	0	NKAIN2	124718112	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	6.866000	0.75506	2.190000	0.69967	0.528000	0.53228	TAT	NKAIN2	-	pfam_Na/K-Atpase_Interacting	ENSG00000188580		0.373	NKAIN2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NKAIN2	HGNC	protein_coding	OTTHUMT00000042057.1	245	0.00	0	T	NM_001040214	Missense_Mutation	124676413	124676413	+1	no_errors	ENST00000368417	ensembl	human	known	69_37n	missense	602	15.33	109	SNP	1.000	C
NUMB	8650	genome.wustl.edu	37	14	73743366	73743366	+	Missense_Mutation	SNP	T	T	G			TCGA-D8-A1JP-01A-11D-A13L-09	TCGA-D8-A1JP-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1e21a355-0cb6-4a43-b134-50ff88dacf92	6eeba22a-d922-4fc8-abc1-ae8bc9eee928	g.chr14:73743366T>G	ENST00000355058.3	-	13	2154	c.1876A>C	c.(1876-1878)Aag>Cag	p.K626Q	NUMB_ENST00000555738.2_Missense_Mutation_p.K469Q|NUMB_ENST00000535282.1_Missense_Mutation_p.K615Q|NUMB_ENST00000559312.1_Missense_Mutation_p.K431Q|NUMB_ENST00000544991.3_Missense_Mutation_p.K431Q|NUMB_ENST00000557597.1_Missense_Mutation_p.K615Q|NUMB_ENST00000555394.1_Missense_Mutation_p.K578Q|NUMB_ENST00000554546.1_Missense_Mutation_p.K567Q|NUMB_ENST00000560335.1_Missense_Mutation_p.K480Q|NUMB_ENST00000555238.1_Missense_Mutation_p.K626Q|RP4-647C14.3_ENST00000556578.1_RNA|NUMB_ENST00000356296.4_Missense_Mutation_p.K578Q|NUMB_ENST00000554521.2_Missense_Mutation_p.K420Q|NUMB_ENST00000454166.4_Missense_Mutation_p.K480Q|NUMB_ENST00000556772.1_Missense_Mutation_p.K482Q|NUMB_ENST00000359560.3_Missense_Mutation_p.K615Q			P49757	NUMB_HUMAN	numb homolog (Drosophila)	626					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|lateral ventricle development (GO:0021670)|lung epithelial cell differentiation (GO:0060487)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of protein localization to plasma membrane (GO:1903077)|neuroblast division in subventricular zone (GO:0021849)|Notch signaling pathway (GO:0007219)|positive regulation of cell migration (GO:0030335)|positive regulation of neurogenesis (GO:0050769)|positive regulation of polarized epithelial cell differentiation (GO:0030862)	apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|clathrin-coated vesicle (GO:0030136)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161)		TGCTTGGACTTATTTTCTAAT	0.473																																						dbGAP											0													79.0	75.0	76.0					14																	73743366		2203	4300	6503	-	-	-	SO:0001583	missense	0			L40393	CCDS9814.1, CCDS32115.1, CCDS32116.1, CCDS55927.1	14q24.3	2011-11-25	2001-11-28			ENSG00000133961			8060	protein-coding gene	gene with protein product		603728	"""numb (Drosophila) homolog"", ""chromosome 14 open reading frame 41"""	C14orf41			Standard	NM_003744		Approved		uc001xny.1	P49757		ENST00000355058.3:c.1876A>C	14.37:g.73743366T>G	ENSP00000347169:p.Lys626Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B1P2N5|B1P2N6|B1P2N7|B1P2N8|B1P2N9|B4E2B1|Q6NUQ7|Q86SY1|Q8WW73|Q9UBG1|Q9UEQ4|Q9UKE8|Q9UKE9|Q9UKF0|Q9UQJ4	Missense_Mutation	SNP	pfam_Numb_domain,pfam_PTyr_interaction_dom,pfam_PTB,smart_PTyr_interaction_dom,pirsf_Numb/numb-like,pfscan_PTyr_interaction_dom	p.K626Q	ENST00000355058.3	37	c.1876	CCDS32116.1	14	.	.	.	.	.	.	.	.	.	.	T	17.36	3.369440	0.61624	.	.	ENSG00000133961	ENST00000554546;ENST00000356296;ENST00000557597;ENST00000555238;ENST00000556772;ENST00000355058;ENST00000359560;ENST00000555394;ENST00000544991;ENST00000454166;ENST00000555738;ENST00000554521;ENST00000535282	T;T;T;T;T;T;T;T;T;T;T;T;T	0.64803	0.02;-0.05;0.32;0.3;0.99;0.3;0.32;-0.05;-0.12;-0.08;-0.06;-0.12;0.32	5.3	5.3	0.74995	.	0.102088	0.64402	D	0.000003	T	0.66277	0.2773	L	0.27053	0.805	0.46241	D	0.998945	D;P;P;P;P;D;P;D;D	0.59357	0.984;0.816;0.816;0.816;0.816;0.985;0.95;0.983;0.985	P;B;B;B;B;P;P;P;P	0.61003	0.711;0.382;0.382;0.382;0.382;0.702;0.574;0.882;0.811	T	0.70274	-0.4917	10	0.66056	D	0.02	-12.1517	15.4202	0.75006	0.0:0.0:0.0:1.0	.	324;469;480;420;431;567;578;615;626	B1P2N9;B1P2N6;B1P2N5;B1P2N8;B1P2N7;P49757-4;P49757-2;P49757-3;P49757	.;.;.;.;.;.;.;.;NUMB_HUMAN	Q	567;578;615;626;482;626;615;578;431;480;469;420;615	ENSP00000452416:K567Q;ENSP00000348644:K578Q;ENSP00000451117:K615Q;ENSP00000451300:K626Q;ENSP00000451513:K482Q;ENSP00000347169:K626Q;ENSP00000352563:K615Q;ENSP00000451625:K578Q;ENSP00000446001:K431Q;ENSP00000394025:K480Q;ENSP00000452069:K469Q;ENSP00000450817:K420Q;ENSP00000441258:K615Q	ENSP00000347169:K626Q	K	-	1	0	NUMB	72813119	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	4.878000	0.63093	2.231000	0.72958	0.459000	0.35465	AAG	NUMB	-	pirsf_Numb/numb-like	ENSG00000133961		0.473	NUMB-201	KNOWN	basic|CCDS	protein_coding	NUMB	HGNC	protein_coding	OTTHUMT00000414416.1	54	0.00	0	T			73743366	73743366	-1	no_errors	ENST00000355058	ensembl	human	known	69_37n	missense	63	19.23	15	SNP	1.000	G
OR10Q1	219960	genome.wustl.edu	37	11	57995900	57995900	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A1JP-01A-11D-A13L-09	TCGA-D8-A1JP-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1e21a355-0cb6-4a43-b134-50ff88dacf92	6eeba22a-d922-4fc8-abc1-ae8bc9eee928	g.chr11:57995900C>A	ENST00000316770.2	-	1	490	c.448G>T	c.(448-450)Ggt>Tgt	p.G150C		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	150						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)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				AGGGCCCCACCCAGCATCTGC	0.607																																						dbGAP											0													58.0	51.0	53.0					11																	57995900		2201	4295	6496	-	-	-	SO:0001583	missense	0			AB065735	CCDS31547.1	11q12.1	2012-08-09			ENSG00000180475	ENSG00000180475		"""GPCR / Class A : Olfactory receptors"""	15134	protein-coding gene	gene with protein product							Standard	NM_001004471		Approved		uc010rkd.2	Q8NGQ4	OTTHUMG00000167542	ENST00000316770.2:c.448G>T	11.37:g.57995900C>A	ENSP00000314324:p.Gly150Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IFG4	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.G150C	ENST00000316770.2	37	c.448	CCDS31547.1	11	.	.	.	.	.	.	.	.	.	.	C	0.104	-1.147331	0.01714	.	.	ENSG00000180475	ENST00000316770	T	0.38240	1.15	4.58	1.55	0.23275	GPCR, rhodopsin-like superfamily (1);	1.799300	0.03830	N	0.268864	T	0.31979	0.0814	L	0.52573	1.65	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.23619	-1.0183	10	0.51188	T	0.08	.	2.176	0.03862	0.1463:0.4009:0.2852:0.1676	.	150	Q8NGQ4	O10Q1_HUMAN	C	150	ENSP00000314324:G150C	ENSP00000314324:G150C	G	-	1	0	OR10Q1	57752476	0.000000	0.05858	0.207000	0.23584	0.001000	0.01503	-0.627000	0.05521	0.144000	0.18951	-0.238000	0.12139	GGT	OR10Q1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000180475		0.607	OR10Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10Q1	HGNC	protein_coding	OTTHUMT00000394706.1	52	0.00	0	C	NM_001004471		57995900	57995900	-1	no_errors	ENST00000316770	ensembl	human	known	69_37n	missense	48	31.43	22	SNP	0.032	A
OR2L3	391192	genome.wustl.edu	37	1	248224268	248224269	+	Missense_Mutation	DNP	GT	GT	TC	rs111507660		TCGA-D8-A1JP-01A-11D-A13L-09	TCGA-D8-A1JP-10A-01D-A13O-09	G|T	G|T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1e21a355-0cb6-4a43-b134-50ff88dacf92	6eeba22a-d922-4fc8-abc1-ae8bc9eee928	g.chr1:248224268_248224269GT>TC	ENST00000359959.3	+	1	285_286	c.285_286GT>TC	c.(283-288)ggGTgt>ggTCgt	p.C96R	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	96						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			CCTTCACTGGGTGTGGGATTCA	0.431																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			AB065950	CCDS31104.1	1q44	2012-08-09			ENSG00000198128	ENSG00000198128		"""GPCR / Class A : Olfactory receptors"""	15009	protein-coding gene	gene with protein product							Standard	NM_001004687		Approved		uc001idx.1	Q8NG85	OTTHUMG00000040195	Exception_encountered	1.37:g.248224268_248224269delinsTC	ENSP00000353044:p.Cys96Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EH44	Silent|Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.G95|p.C96R	ENST00000359959.3	37	c.285|c.286	CCDS31104.1	1																																																																																			OR2L3	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt	ENSG00000198128		0.431	OR2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2L3	HGNC	protein_coding	OTTHUMT00000096852.1	201|199	0.99|0.50	2|1	G|T	NM_001004687		248224268|248224269	248224268|248224269	+1	no_errors	ENST00000359959	ensembl	human	known	69_37n	silent|missense	209|208	36.94|36.67	123|121	SNP	0.009|0.985	T|C
OR3A1	4994	genome.wustl.edu	37	17	3195744	3195744	+	Missense_Mutation	SNP	T	T	G			TCGA-D8-A1JP-01A-11D-A13L-09	TCGA-D8-A1JP-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1e21a355-0cb6-4a43-b134-50ff88dacf92	6eeba22a-d922-4fc8-abc1-ae8bc9eee928	g.chr17:3195744T>G	ENST00000323404.1	-	1	132	c.133A>C	c.(133-135)Aac>Cac	p.N45H	RP11-64J4.2_ENST00000573491.1_RNA	NM_002550.2	NP_002541.2	P47881	OR3A1_HUMAN	olfactory receptor, family 3, subfamily A, member 1	45					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|signal transduction (GO:0007165)	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)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	20						ATGCTGAGGTTGCCCCTGACC	0.577																																					GBM(20;287 516 18743 28660 36594)	dbGAP											0													91.0	86.0	88.0					17																	3195744		2203	4300	6503	-	-	-	SO:0001583	missense	0			X80391	CCDS11023.1	17p13.3	2012-08-09			ENSG00000180090	ENSG00000180090		"""GPCR / Class A : Olfactory receptors"""	8282	protein-coding gene	gene with protein product						8921386, 8647456	Standard	NM_002550		Approved	OLFRA03, OR40, OR17-40	uc002fvh.1	P47881	OTTHUMG00000090642	ENST00000323404.1:c.133A>C	17.37:g.3195744T>G	ENSP00000313803:p.Asn45His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4VB06|Q6IFM4	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.N45H	ENST00000323404.1	37	c.133	CCDS11023.1	17	.	.	.	.	.	.	.	.	.	.	T	15.81	2.944383	0.53079	.	.	ENSG00000180090	ENST00000323404	T	0.75589	-0.95	5.83	4.7	0.59300	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000048	D	0.87977	0.6314	H	0.95816	3.725	0.30314	N	0.788194	D	0.89917	1.0	D	0.79108	0.992	D	0.85973	0.1478	10	0.87932	D	0	-32.1317	6.4341	0.21813	0.0:0.0792:0.1595:0.7612	.	45	P47881	OR3A1_HUMAN	H	45	ENSP00000313803:N45H	ENSP00000313803:N45H	N	-	1	0	OR3A1	3142494	1.000000	0.71417	1.000000	0.80357	0.490000	0.33462	4.695000	0.61767	2.223000	0.72356	0.528000	0.53228	AAC	OR3A1	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000180090		0.577	OR3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR3A1	HGNC	protein_coding	OTTHUMT00000207302.2	51	0.00	0	T			3195744	3195744	-1	no_errors	ENST00000323404	ensembl	human	known	69_37n	missense	16	58.97	23	SNP	0.996	G
OR4K2	390431	genome.wustl.edu	37	14	20344814	20344814	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JP-01A-11D-A13L-09	TCGA-D8-A1JP-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1e21a355-0cb6-4a43-b134-50ff88dacf92	6eeba22a-d922-4fc8-abc1-ae8bc9eee928	g.chr14:20344814C>G	ENST00000298642.2	+	1	424	c.388C>G	c.(388-390)Ctg>Gtg	p.L130V		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	130						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATGCAAGCCCCTGCACTATGC	0.453																																						dbGAP											0													249.0	251.0	250.0					14																	20344814		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS32023.1	14q11.2	2013-09-23			ENSG00000165762	ENSG00000165762		"""GPCR / Class A : Olfactory receptors"""	14728	protein-coding gene	gene with protein product							Standard	NM_001005501		Approved		uc001vwh.1	Q8NGD2	OTTHUMG00000170624	ENST00000298642.2:c.388C>G	14.37:g.20344814C>G	ENSP00000298642:p.Leu130Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNK8|Q6IFA5	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.L130V	ENST00000298642.2	37	c.388	CCDS32023.1	14	.	.	.	.	.	.	.	.	.	.	.	17.07	3.294938	0.60086	.	.	ENSG00000165762	ENST00000298642	T	0.01484	4.84	5.11	4.22	0.49857	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42682	D	0.000676	T	0.17408	0.0418	H	0.97852	4.09	0.35730	D	0.817817	D	0.76494	0.999	D	0.72338	0.977	T	0.43718	-0.9374	10	0.87932	D	0	.	11.2547	0.49048	0.0:0.9111:0.0:0.0889	.	130	Q8NGD2	OR4K2_HUMAN	V	130	ENSP00000298642:L130V	ENSP00000298642:L130V	L	+	1	2	OR4K2	19414654	0.959000	0.32827	0.992000	0.48379	0.956000	0.61745	2.865000	0.48412	1.377000	0.46286	0.551000	0.68910	CTG	OR4K2	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_supfam	ENSG00000165762		0.453	OR4K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4K2	HGNC	protein_coding	OTTHUMT00000409864.1	359	0.00	0	C			20344814	20344814	+1	no_errors	ENST00000298642	ensembl	human	known	69_37n	missense	462	14.60	79	SNP	1.000	G
OR5F1	338674	genome.wustl.edu	37	11	55761642	55761642	+	Silent	SNP	G	G	A			TCGA-D8-A1JP-01A-11D-A13L-09	TCGA-D8-A1JP-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1e21a355-0cb6-4a43-b134-50ff88dacf92	6eeba22a-d922-4fc8-abc1-ae8bc9eee928	g.chr11:55761642G>A	ENST00000278409.1	-	1	459	c.460C>T	c.(460-462)Ctg>Ttg	p.L154L		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	154					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					ATGAAGTTCAGCAACCCTGCA	0.507																																						dbGAP											0													52.0	51.0	51.0					11																	55761642		2201	4296	6497	-	-	-	SO:0001819	synonymous_variant	0			AF065863	CCDS31515.1	11q11	2012-08-09			ENSG00000149133	ENSG00000149133		"""GPCR / Class A : Olfactory receptors"""	8343	protein-coding gene	gene with protein product		608492				9787077	Standard	NM_003697		Approved	OR11-10	uc010riv.2	O95221	OTTHUMG00000166825	ENST00000278409.1:c.460C>T	11.37:g.55761642G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q495D1|Q6IFB9	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.L154	ENST00000278409.1	37	c.460	CCDS31515.1	11																																																																																			OR5F1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000149133		0.507	OR5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5F1	HGNC	protein_coding	OTTHUMT00000391532.1	35	0.00	0	G	NM_003697		55761642	55761642	-1	no_errors	ENST00000278409	ensembl	human	known	69_37n	silent	16	27.27	6	SNP	0.000	A
P2RY13	53829	genome.wustl.edu	37	3	151046415	151046415	+	Silent	SNP	G	G	C			TCGA-D8-A1JP-01A-11D-A13L-09	TCGA-D8-A1JP-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1e21a355-0cb6-4a43-b134-50ff88dacf92	6eeba22a-d922-4fc8-abc1-ae8bc9eee928	g.chr3:151046415G>C	ENST00000325602.5	-	2	448	c.429C>G	c.(427-429)ctC>ctG	p.L143L	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron|MED12L_ENST00000491549.1_Intron	NM_176894.2	NP_795713.2	Q9BPV8	P2Y13_HUMAN	purinergic receptor P2Y, G-protein coupled, 13	143					negative regulation of adenylate cyclase activity (GO:0007194)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278)			TGATGATCTTGAGGAATCTGT	0.393																																						dbGAP											0													49.0	50.0	50.0					3																	151046415		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF295368	CCDS3158.2	3q24	2012-08-08	2004-07-12	2004-07-14	ENSG00000181631	ENSG00000181631		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	4537	protein-coding gene	gene with protein product		606380	"""G protein-coupled receptor 86"""	GPR94, GPR86		11273702, 11574155	Standard	NM_176894		Approved	FKSG77, P2Y13	uc003eyv.2	Q9BPV8	OTTHUMG00000155745	ENST00000325602.5:c.429C>G	3.37:g.151046415G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R827|Q05C50|Q6DKN4|Q8IUT5|Q8TDU7|Q9BY61	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_supfam,prints_P2Y13_purnocptor,prints_7TM_GPCR_Rhodpsn,prints_P2_purnocptor,prints_UDPG_rcpt	p.L143	ENST00000325602.5	37	c.429	CCDS3158.2	3																																																																																			P2RY13	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_supfam,prints_P2Y13_purnocptor,prints_7TM_GPCR_Rhodpsn,prints_P2_purnocptor,prints_UDPG_rcpt	ENSG00000181631		0.393	P2RY13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	P2RY13	HGNC	protein_coding	OTTHUMT00000341468.1	35	0.00	0	G	NM_023914		151046415	151046415	-1	no_errors	ENST00000325602	ensembl	human	known	69_37n	silent	33	15.38	6	SNP	0.998	C
PAK7	57144	genome.wustl.edu	37	20	9546953	9546953	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A1JP-01A-11D-A13L-09	TCGA-D8-A1JP-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1e21a355-0cb6-4a43-b134-50ff88dacf92	6eeba22a-d922-4fc8-abc1-ae8bc9eee928	g.chr20:9546953G>T	ENST00000378429.3	-	6	1615	c.1069C>A	c.(1069-1071)Cta>Ata	p.L357I	PAK7_ENST00000378423.1_Missense_Mutation_p.L357I|PAK7_ENST00000353224.5_Missense_Mutation_p.L357I	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	357	Linker.				apoptotic process (GO:0006915)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|learning (GO:0007612)|locomotory behavior (GO:0007626)|memory (GO:0007613)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			CTTTGAGGTAGTTTGGCAGGG	0.557																																						dbGAP											0													143.0	143.0	143.0					20																	9546953		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB033090	CCDS13107.1	20p12	2008-06-17	2008-06-17		ENSG00000101349	ENSG00000101349			15916	protein-coding gene	gene with protein product		608038	"""p21(CDKN1A)-activated kinase 7"""			11756552, 10574462	Standard	NM_020341		Approved	KIAA1264, PAK5	uc002wnk.2	Q9P286	OTTHUMG00000031857	ENST00000378429.3:c.1069C>A	20.37:g.9546953G>T	ENSP00000367686:p.Leu357Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PAK_box_Rho-bd,superfamily_Kinase-like_dom,smart_PAK_box_Rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_PAK_box_Rho-bd,pfscan_Prot_kinase_cat_dom	p.L357I	ENST00000378429.3	37	c.1069	CCDS13107.1	20	.	.	.	.	.	.	.	.	.	.	G	17.14	3.314451	0.60524	.	.	ENSG00000101349	ENST00000378429;ENST00000353224;ENST00000378423;ENST00000439520	T;T;T	0.31769	1.48;1.48;1.48	5.94	4.98	0.66077	.	0.311519	0.32884	N	0.005536	T	0.25232	0.0613	L	0.43152	1.355	0.51012	D	0.999908	B;P	0.35077	0.18;0.483	B;B	0.24974	0.03;0.057	T	0.02471	-1.1154	9	.	.	.	.	16.4434	0.83908	0.0:0.0:0.8675:0.1325	.	357;357	B0AZM9;Q9P286	.;PAK7_HUMAN	I	357;357;357;305	ENSP00000367686:L357I;ENSP00000322957:L357I;ENSP00000367679:L357I	.	L	-	1	2	PAK7	9494953	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.636000	0.83301	1.484000	0.48361	-0.293000	0.09583	CTA	PAK7	-	NULL	ENSG00000101349		0.557	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PAK7	HGNC	protein_coding	OTTHUMT00000077962.1	65	0.00	0	G			9546953	9546953	-1	no_errors	ENST00000353224	ensembl	human	known	69_37n	missense	68	11.69	9	SNP	1.000	T
PCNX	22990	genome.wustl.edu	37	14	71576307	71576307	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JP-01A-11D-A13L-09	TCGA-D8-A1JP-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1e21a355-0cb6-4a43-b134-50ff88dacf92	6eeba22a-d922-4fc8-abc1-ae8bc9eee928	g.chr14:71576307C>T	ENST00000304743.2	+	35	7329	c.6883C>T	c.(6883-6885)Cat>Tat	p.H2295Y	PCNX_ENST00000556272.1_3'UTR|PCNX_ENST00000238570.5_Missense_Mutation_p.H2223Y|PCNX_ENST00000439984.3_Missense_Mutation_p.H2184Y	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	2295						integral component of membrane (GO:0016021)				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		CATGGAAGGCCATGTAAGTTC	0.468																																						dbGAP											0													59.0	70.0	67.0					14																	71576307		2202	4300	6502	-	-	-	SO:0001583	missense	0			AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"""pecanex-like 1 (Drosophila)"""	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.6883C>T	14.37:g.71576307C>T	ENSP00000304192:p.His2295Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	pfam_Pecanex	p.H2295Y	ENST00000304743.2	37	c.6883	CCDS9806.1	14	.	.	.	.	.	.	.	.	.	.	C	17.39	3.377498	0.61735	.	.	ENSG00000100731	ENST00000304743;ENST00000238570;ENST00000439984;ENST00000555780	T;T;T	0.10005	3.35;3.37;2.92	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.16769	0.0403	L	0.54323	1.7	0.32224	N	0.574886	P;P;P	0.52316	0.952;0.92;0.861	B;B;B	0.44044	0.439;0.255;0.255	T	0.03051	-1.1078	10	0.25751	T	0.34	.	20.6439	0.99570	0.0:1.0:0.0:0.0	.	2223;2184;2295	Q96RV3-3;B2RTR6;Q96RV3	.;.;PCX1_HUMAN	Y	2295;2223;2184;56	ENSP00000304192:H2295Y;ENSP00000238570:H2223Y;ENSP00000396617:H2184Y	ENSP00000238570:H2223Y	H	+	1	0	PCNX	70646060	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.320000	0.79064	2.890000	0.99128	0.650000	0.86243	CAT	PCNX	-	NULL	ENSG00000100731		0.468	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNX	HGNC	protein_coding	OTTHUMT00000412479.1	64	0.00	0	C	NM_014982		71576307	71576307	+1	no_errors	ENST00000304743	ensembl	human	known	69_37n	missense	44	20.00	11	SNP	1.000	T
PEX19	5824	genome.wustl.edu	37	1	160252800	160252800	+	Missense_Mutation	SNP	A	A	C			TCGA-D8-A1JP-01A-11D-A13L-09	TCGA-D8-A1JP-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1e21a355-0cb6-4a43-b134-50ff88dacf92	6eeba22a-d922-4fc8-abc1-ae8bc9eee928	g.chr1:160252800A>C	ENST00000368072.5	-	3	301	c.280T>G	c.(280-282)Ttg>Gtg	p.L94V	PEX19_ENST00000440949.3_Missense_Mutation_p.L4V|PEX19_ENST00000532508.1_5'UTR|DCAF8_ENST00000608310.1_5'UTR|DCAF8_ENST00000556710.1_5'UTR	NM_001193644.1|NM_002857.3	NP_001180573.1|NP_002848.1	P40855	PEX19_HUMAN	peroxisomal biogenesis factor 19	94					chaperone-mediated protein folding (GO:0061077)|chaperone-mediated protein transport (GO:0072321)|establishment of protein localization to peroxisome (GO:0072663)|negative regulation of lipid binding (GO:1900131)|peroxisome fission (GO:0016559)|peroxisome membrane biogenesis (GO:0016557)|peroxisome organization (GO:0007031)|protein import into peroxisome membrane (GO:0045046)|protein stabilization (GO:0050821)|protein targeting to peroxisome (GO:0006625)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	ATPase binding (GO:0051117)|peroxisome membrane class-1 targeting sequence binding (GO:0036105)|protein N-terminus binding (GO:0047485)			cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2)	11	all_cancers(52;1.27e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TCCTCAGCCAACTCCTTCATT	0.527																																						dbGAP											0													77.0	77.0	77.0					1																	160252800		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y09048	CCDS1201.1	1q22	2008-07-18	2004-03-17	2004-03-19	ENSG00000162735	ENSG00000162735			9713	protein-coding gene	gene with protein product	"""housekeeping gene, 33kD"""	600279	"""peroxisomal farnesylated protein"""	PXF		9339377, 10051604	Standard	NM_002857		Approved	HK33, D1S2223E, PMP1, PMPI, PXMP1		P40855	OTTHUMG00000033112	ENST00000368072.5:c.280T>G	1.37:g.160252800A>C	ENSP00000357051:p.Leu94Val	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DVE7|Q5QNY4|Q8NI97	Missense_Mutation	SNP	pfam_Pex19	p.L94V	ENST00000368072.5	37	c.280	CCDS1201.1	1	.	.	.	.	.	.	.	.	.	.	A	17.70	3.454461	0.63290	.	.	ENSG00000162735	ENST00000368072;ENST00000429425;ENST00000440949;ENST00000392220	.	.	.	5.5	-0.953	0.10362	.	0.000000	0.64402	D	0.000001	T	0.57489	0.2057	M	0.66297	2.02	0.47778	D	0.999515	D	0.71674	0.998	D	0.67725	0.953	T	0.60964	-0.7158	9	0.45353	T	0.12	-7.7396	11.0176	0.47698	0.4249:0.0:0.5751:0.0	.	94	P40855	PEX19_HUMAN	V	94;74;4;74	.	ENSP00000357051:L94V	L	-	1	2	PEX19	158519424	0.998000	0.40836	0.997000	0.53966	0.993000	0.82548	0.384000	0.20668	-0.126000	0.11682	-0.376000	0.06991	TTG	PEX19	-	pfam_Pex19	ENSG00000162735		0.527	PEX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PEX19	HGNC	protein_coding	OTTHUMT00000080642.2	97	0.00	0	A	NM_002857		160252800	160252800	-1	no_errors	ENST00000368072	ensembl	human	known	69_37n	missense	117	33.52	59	SNP	0.998	C
PFKM	5213	genome.wustl.edu	37	12	48539018	48539018	+	Silent	SNP	T	T	C			TCGA-D8-A1JP-01A-11D-A13L-09	TCGA-D8-A1JP-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1e21a355-0cb6-4a43-b134-50ff88dacf92	6eeba22a-d922-4fc8-abc1-ae8bc9eee928	g.chr12:48539018T>C	ENST00000312352.7	+	22	2157	c.2118T>C	c.(2116-2118)gaT>gaC	p.D706D	PFKM_ENST00000395233.2_Silent_p.D675D|PFKM_ENST00000340802.6_Silent_p.D777D|PFKM_ENST00000547587.1_Silent_p.D706D|PFKM_ENST00000551804.1_Silent_p.D675D|PFKM_ENST00000359794.5_Silent_p.D706D	NM_001166687.1	NP_001160159.1	P08237	PFKAM_HUMAN	phosphofructokinase, muscle	706	C-terminal regulatory PFK domain 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|muscle cell cellular homeostasis (GO:0046716)|positive regulation of insulin secretion (GO:0032024)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	6-phosphofructokinase complex (GO:0005945)|apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|sperm principal piece (GO:0097228)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|fructose binding (GO:0070061)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						ATACTCCAGATTCGGGCTGTG	0.547																																						dbGAP											0													132.0	127.0	129.0					12																	48539018		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M26066	CCDS8760.1, CCDS53786.1	12q13.11	2014-06-13					2.7.1.11		8877	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 122"""	610681	"""phosphofructokinase, polypeptide X"""	PFKX			Standard	NM_001166686		Approved	PFK-1, PPP1R122	uc001rrb.2	P08237		ENST00000312352.7:c.2118T>C	12.37:g.48539018T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	J3KNX3|Q16814|Q16815|Q6ZTT1	Silent	SNP	pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,prints_Phosphofructokinase,tigrfam_6-phosphofructokinase_euk	p.D706	ENST00000312352.7	37	c.2118	CCDS8760.1	12																																																																																			PFKM	-	superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,tigrfam_6-phosphofructokinase_euk	ENSG00000152556		0.547	PFKM-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PFKM	HGNC	protein_coding	OTTHUMT00000406490.1	102	0.00	0	T	NM_000289		48539018	48539018	+1	no_errors	ENST00000312352	ensembl	human	known	69_37n	silent	34	56.25	45	SNP	1.000	C
PIK3CA	5290	genome.wustl.edu	37	3	178916946	178916946	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JP-01A-11D-A13L-09	TCGA-D8-A1JP-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1e21a355-0cb6-4a43-b134-50ff88dacf92	6eeba22a-d922-4fc8-abc1-ae8bc9eee928	g.chr3:178916946G>C	ENST00000263967.3	+	2	490	c.333G>C	c.(331-333)aaG>aaC	p.K111N		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	111					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.K111N(12)|p.K111_L113delKIL(2)|p.K111_I112>N(1)|p.K111del(1)		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)	GTGAAGAAAAGATCCTCAATC	0.328		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	16	Substitution - Missense(12)|Deletion - In frame(3)|Complex - deletion inframe(1)	breast(8)|large_intestine(3)|endometrium(3)|lung(2)											82.0	78.0	79.0					3																	178916946		1820	4070	5890	-	-	-	SO:0001583	missense	0				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.333G>C	3.37:g.178916946G>C	ENSP00000263967:p.Lys111Asn	Somatic		WXS	Illumina GAIIx	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.K111N	ENST00000263967.3	37	c.333	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	16.28	3.079872	0.55753	.	.	ENSG00000121879	ENST00000263967;ENST00000468036	T;T	0.76709	0.89;-1.04	5.52	4.63	0.57726	.	0.000000	0.85682	D	0.000000	D	0.85965	0.5820	M	0.78637	2.42	0.58432	D	0.999999	D	0.76494	0.999	D	0.70935	0.971	D	0.86015	0.1503	9	.	.	.	-23.7658	10.9773	0.47473	0.1444:0.0:0.8556:0.0	.	111	P42336	PK3CA_HUMAN	N	111	ENSP00000263967:K111N;ENSP00000417479:K111N	.	K	+	3	2	PIK3CA	180399640	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.950000	0.40323	2.584000	0.87258	0.555000	0.69702	AAG	PIK3CA	-	NULL	ENSG00000121879		0.328	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	18	0.00	0	G			178916946	178916946	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	32	49.21	31	SNP	1.000	C
PIKFYVE	200576	genome.wustl.edu	37	2	209190360	209190360	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1JP-01A-11D-A13L-09	TCGA-D8-A1JP-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1e21a355-0cb6-4a43-b134-50ff88dacf92	6eeba22a-d922-4fc8-abc1-ae8bc9eee928	g.chr2:209190360A>G	ENST00000264380.4	+	20	2983	c.2825A>G	c.(2824-2826)gAa>gGa	p.E942G		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	942					cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						GGTGAGCAGGAAAATAAAAAT	0.507																																						dbGAP											0													64.0	62.0	63.0					2																	209190360		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"""Zinc fingers, FYVE domain containing"""	23785	protein-coding gene	gene with protein product	"""zinc finger, FYVE domain containing 29"""	609414	"""phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"""	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.2825A>G	2.37:g.209190360A>G	ENSP00000264380:p.Glu942Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Missense_Mutation	SNP	pfam_PInositol-4-P-5-kinase_core,pfam_Cpn60/TCP-1,pfam_DEP_dom,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,smart_DEP_dom,smart_PInositol-4P-5-kinase_core_sub,pfscan_DEP_dom,pfscan_Znf_FYVE-rel	p.E942G	ENST00000264380.4	37	c.2825	CCDS2382.1	2	.	.	.	.	.	.	.	.	.	.	A	14.74	2.625144	0.46840	.	.	ENSG00000115020	ENST00000264380;ENST00000392200;ENST00000452564	T;T	0.31510	1.49;1.67	6.07	6.07	0.98685	.	0.137987	0.46442	D	0.000283	T	0.25494	0.0620	L	0.31294	0.92	0.80722	D	1	B;B	0.24963	0.0;0.115	B;B	0.23275	0.0;0.045	T	0.03287	-1.1052	10	0.28530	T	0.3	-10.2749	16.6277	0.84984	1.0:0.0:0.0:0.0	.	942;886	Q9Y2I7;E9PDH4	FYV1_HUMAN;.	G	942;518;886	ENSP00000264380:E942G;ENSP00000405736:E886G	ENSP00000264380:E942G	E	+	2	0	PIKFYVE	208898605	1.000000	0.71417	0.943000	0.38184	0.909000	0.53808	6.335000	0.72949	2.330000	0.79161	0.528000	0.53228	GAA	PIKFYVE	-	NULL	ENSG00000115020		0.507	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIKFYVE	HGNC	protein_coding	OTTHUMT00000256477.2	46	0.00	0	A	NM_015040		209190360	209190360	+1	no_errors	ENST00000264380	ensembl	human	known	69_37n	missense	22	31.25	10	SNP	0.999	G
PMEL	6490	genome.wustl.edu	37	12	56352282	56352282	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A1JP-01A-11D-A13L-09	TCGA-D8-A1JP-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1e21a355-0cb6-4a43-b134-50ff88dacf92	6eeba22a-d922-4fc8-abc1-ae8bc9eee928	g.chr12:56352282G>T	ENST00000548747.1	-	4	1106	c.444C>A	c.(442-444)agC>agA	p.S148R	PMEL_ENST00000550447.1_Missense_Mutation_p.S111R|PMEL_ENST00000539511.1_Missense_Mutation_p.S62R|PMEL_ENST00000552882.1_Missense_Mutation_p.S148R|PMEL_ENST00000536427.1_Missense_Mutation_p.S148R|PMEL_ENST00000449260.2_Missense_Mutation_p.S148R|PMEL_ENST00000550464.1_Missense_Mutation_p.S62R|PMEL_ENST00000360714.4_Missense_Mutation_p.S148R|PMEL_ENST00000548689.1_5'UTR|PMEL_ENST00000548493.1_Missense_Mutation_p.S148R			P40967	PMEL_HUMAN	premelanosome protein	148					melanin biosynthetic process (GO:0042438)|melanosome organization (GO:0032438)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)|multivesicular body membrane (GO:0032585)|plasma membrane (GO:0005886)				NS(1)|breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CATAAACAAAGCTTCTCTTCT	0.512																																						dbGAP											0													94.0	79.0	84.0					12																	56352282		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK092881	CCDS8897.1, CCDS55833.1, CCDS55834.1	12q13-q14	2010-12-17	2010-12-17	2010-12-17	ENSG00000185664	ENSG00000185664			10880	protein-coding gene	gene with protein product		155550	"""silver (mouse homolog) like"", ""silver homolog (mouse)"""	SIL, SILV		8739560	Standard	NM_001200053		Approved	D12S53E, SI, Pmel17, gp100	uc001siq.3	P40967		ENST00000548747.1:c.444C>A	12.37:g.56352282G>T	ENSP00000448828:p.Ser148Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KS57|B7Z6D7|Q12763|Q14448|Q14817|Q16565	Missense_Mutation	SNP	pfam_PKD_dom,superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_PKD_dom	p.S148R	ENST00000548747.1	37	c.444	CCDS8897.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.390|6.390	0.440150|0.440150	0.12104|0.12104	.|.	.|.	ENSG00000185664|ENSG00000185664	ENST00000549404|ENST00000449260;ENST00000552882;ENST00000550464;ENST00000548747;ENST00000548493;ENST00000360714;ENST00000536427;ENST00000539511;ENST00000550447;ENST00000548803;ENST00000547137;ENST00000546543;ENST00000549418	.|T;T;T;T;T;T;T;T;T;T;T	.|0.31247	.|3.12;3.12;3.15;3.12;3.12;3.12;2.74;3.15;1.5;2.47;3.14	4.46|4.46	0.344|0.344	0.16006|0.16006	.|.	.|0.433409	.|0.22395	.|N	.|0.060631	T|T	0.15089|0.15089	0.0364|0.0364	L|L	0.32530|0.32530	0.975|0.975	0.21697|0.21697	N|N	0.999588|0.999588	.|B;B;B	.|0.15473	.|0.012;0.013;0.007	.|B;B;B	.|0.17979	.|0.02;0.014;0.006	T|T	0.22591|0.22591	-1.0212|-1.0212	5|10	.|0.10111	.|T	.|0.7	-0.0792|-0.0792	1.9558|1.9558	0.03375|0.03375	0.1601:0.1267:0.4199:0.2933|0.1601:0.1267:0.4199:0.2933	.|.	.|62;148;148	.|P40967-3;P40967-2;P40967	.|.;.;PMEL_HUMAN	I|R	36|148;148;62;148;148;148;148;62;111;148;148;99;148	.|ENSP00000402758:S148R;ENSP00000449690:S148R;ENSP00000450036:S62R;ENSP00000448828:S148R;ENSP00000447374:S148R;ENSP00000353940:S148R;ENSP00000438695:S148R;ENSP00000445005:S62R;ENSP00000447732:S148R;ENSP00000448849:S148R;ENSP00000446662:S99R	.|ENSP00000353940:S148R	L|S	-|-	1|3	0|2	PMEL|PMEL	54638549|54638549	0.522000|0.522000	0.26266|0.26266	0.950000|0.950000	0.38849|0.38849	0.797000|0.797000	0.45037|0.45037	0.019000|0.019000	0.13444|0.13444	-0.042000|-0.042000	0.13535|0.13535	-0.379000|-0.379000	0.06801|0.06801	CTT|AGC	PMEL	-	NULL	ENSG00000185664		0.512	PMEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PMEL	HGNC	protein_coding	OTTHUMT00000409626.1	48	0.00	0	G	NM_006928		56352282	56352282	-1	no_errors	ENST00000360714	ensembl	human	known	69_37n	missense	8	33.33	4	SNP	0.157	T
PPP6R3	55291	genome.wustl.edu	37	11	68359089	68359089	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A1JP-01A-11D-A13L-09	TCGA-D8-A1JP-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1e21a355-0cb6-4a43-b134-50ff88dacf92	6eeba22a-d922-4fc8-abc1-ae8bc9eee928	g.chr11:68359089C>A	ENST00000393800.2	+	18	2085	c.1831C>A	c.(1831-1833)Cag>Aag	p.Q611K	PPP6R3_ENST00000265637.4_Missense_Mutation_p.Q565K|PPP6R3_ENST00000524845.1_Missense_Mutation_p.Q582K|PPP6R3_ENST00000393801.3_Missense_Mutation_p.Q611K|PPP6R3_ENST00000393799.2_Missense_Mutation_p.Q611K|PPP6R3_ENST00000529710.1_Missense_Mutation_p.Q531K|PPP6R3_ENST00000524904.1_Missense_Mutation_p.Q605K|PPP6R3_ENST00000527403.2_Missense_Mutation_p.Q576K|PPP6R3_ENST00000534534.1_Missense_Mutation_p.Q379K|PPP6R3_ENST00000265636.5_Missense_Mutation_p.Q531K	NM_001164161.1|NM_001164162.1|NM_001164163.1	NP_001157633.1|NP_001157634.1|NP_001157635.1	Q5H9R7	PP6R3_HUMAN	protein phosphatase 6, regulatory subunit 3	611					regulation of phosphoprotein phosphatase activity (GO:0043666)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)			breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						AAGAATACAACAGTTTGATGA	0.358																																						dbGAP											0													124.0	108.0	113.0					11																	68359089		2200	4294	6494	-	-	-	SO:0001583	missense	0			AF264779	CCDS8182.1, CCDS53671.1, CCDS53672.1, CCDS53673.1, CCDS53674.1, CCDS53675.1	11q13	2012-04-17	2010-06-28	2010-06-28	ENSG00000110075	ENSG00000110075		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"""	1173	protein-coding gene	gene with protein product	"""sporulation-induced transcript 4-associated protein"""	610879	"""chromosome 11 open reading frame 23"", ""SAPS domain family, member 3"""	C11orf23, SAPS3		11401438, 16769727	Standard	NM_018312		Approved	SAPLa, DKFZp781E2374, DKFZp781O2362, DKFZp781E17107, SAP190, SAPL, PP6R3, FLJ11058, FLJ43065, KIAA1558, MGC125711, MGC125712	uc001onv.3	Q5H9R7		ENST00000393800.2:c.1831C>A	11.37:g.68359089C>A	ENSP00000377389:p.Gln611Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3B7I1|Q3I4Y0|Q3KR35|Q68CR3|Q7L4R8|Q8N3B2|Q96MB2|Q9H2K5|Q9H2K6|Q9HCL4|Q9NUY3	Missense_Mutation	SNP	pfam_SAPS,superfamily_ARM-type_fold	p.Q611K	ENST00000393800.2	37	c.1831	CCDS53672.1	11	.	.	.	.	.	.	.	.	.	.	C	28.3	4.911015	0.92178	.	.	ENSG00000110075	ENST00000393799;ENST00000393800;ENST00000534534;ENST00000524845;ENST00000265637;ENST00000524904;ENST00000393801;ENST00000265636;ENST00000529710;ENST00000527403;ENST00000534190	T;T;T;T;T;T;T;T;T;T;T	0.27104	1.81;1.81;1.79;1.71;1.69;1.81;1.81;1.73;1.72;1.7;1.74	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.47248	0.1435	M	0.62723	1.935	0.80722	D	1	D;D;D;D;D;D;D;D	0.71674	0.998;0.981;0.967;0.967;0.984;0.973;0.997;0.996	D;D;P;P;D;P;D;D	0.78314	0.991;0.931;0.839;0.839;0.939;0.87;0.99;0.966	T	0.21999	-1.0229	10	0.10377	T	0.69	.	19.6027	0.95569	0.0:1.0:0.0:0.0	.	294;379;531;582;605;611;611;531	B4DYU6;E9PQP7;Q5H9R7-3;Q5H9R7-6;Q5H9R7-2;Q5H9R7;Q5H9R7-5;Q5H9R7-4	.;.;.;.;.;PP6R3_HUMAN;.;.	K	611;611;379;582;565;605;611;531;531;576;318	ENSP00000377388:Q611K;ENSP00000377389:Q611K;ENSP00000434429:Q379K;ENSP00000431415:Q582K;ENSP00000265637:Q565K;ENSP00000433058:Q605K;ENSP00000377390:Q611K;ENSP00000265636:Q531K;ENSP00000437329:Q531K;ENSP00000433565:Q576K;ENSP00000436209:Q318K	ENSP00000265636:Q531K	Q	+	1	0	PPP6R3	68115665	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.663000	0.83820	2.703000	0.92315	0.650000	0.86243	CAG	PPP6R3	-	NULL	ENSG00000110075		0.358	PPP6R3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPP6R3	HGNC	protein_coding	OTTHUMT00000395275.1	93	0.00	0	C	NM_018312		68359089	68359089	+1	no_errors	ENST00000393799	ensembl	human	known	69_37n	missense	76	37.40	46	SNP	1.000	A
PRAME	23532	genome.wustl.edu	37	22	22890903	22890903	+	Silent	SNP	C	C	T	rs146650047	byFrequency	TCGA-D8-A1JP-01A-11D-A13L-09	TCGA-D8-A1JP-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1e21a355-0cb6-4a43-b134-50ff88dacf92	6eeba22a-d922-4fc8-abc1-ae8bc9eee928	g.chr22:22890903C>T	ENST00000398741.1	-	6	1422	c.1116G>A	c.(1114-1116)ctG>ctA	p.L372L	PRAME_ENST00000485532.1_5'Flank|PRAME_ENST00000543184.1_Silent_p.L372L|PRAME_ENST00000402697.1_Silent_p.L372L|PRAME_ENST00000539862.1_Silent_p.L356L|PRAME_ENST00000398743.2_Silent_p.L372L|PRAME_ENST00000424204.2_Silent_p.L356L|PRAME_ENST00000405655.3_Silent_p.L372L	NM_206955.1	NP_996838.1	P78395	PRAME_HUMAN	preferentially expressed antigen in melanoma	372					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	retinoic acid receptor binding (GO:0042974)			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		CTCTCTCCAGCAGAGCTTGGA	0.582																																					Melanoma(73;1707 1838 15168 27201)	dbGAP											0													103.0	100.0	101.0					22																	22890903		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U65011	CCDS13801.1	22q11.22	2013-01-17			ENSG00000185686	ENSG00000185686		"""-"""	9336	protein-coding gene	gene with protein product	"""cancer/testis antigen 130"""	606021		MAPE		9047241, 10591208	Standard	XM_006725402		Approved	CT130	uc002zwj.3	P78395	OTTHUMG00000151172	ENST00000398741.1:c.1116G>A	22.37:g.22890903C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R6Y7|O43481|Q8IXN8	Silent	SNP	NULL	p.L372	ENST00000398741.1	37	c.1116	CCDS13801.1	22																																																																																			PRAME	-	NULL	ENSG00000185686		0.582	PRAME-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRAME	HGNC	protein_coding	OTTHUMT00000321644.1	47	0.00	0	C	NM_206953		22890903	22890903	-1	no_errors	ENST00000398741	ensembl	human	known	69_37n	silent	24	29.41	10	SNP	0.026	T
PRDM1	639	genome.wustl.edu	37	6	106554322	106554322	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1JP-01A-11D-A13L-09	TCGA-D8-A1JP-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1e21a355-0cb6-4a43-b134-50ff88dacf92	6eeba22a-d922-4fc8-abc1-ae8bc9eee928	g.chr6:106554322A>G	ENST00000369096.4	+	6	2084	c.1850A>G	c.(1849-1851)cAc>cGc	p.H617R	PRDM1_ENST00000369089.3_Missense_Mutation_p.H483R|PRDM1_ENST00000369091.2_Missense_Mutation_p.H581R	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	617					cell fate commitment (GO:0045165)|eye photoreceptor cell development (GO:0042462)|germ cell development (GO:0007281)|intestinal epithelial cell development (GO:0060576)|maternal placenta development (GO:0001893)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of gene expression (GO:0010628)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|trophoblast giant cell differentiation (GO:0060707)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		CAGCTCGCCCACCTGCAGAAA	0.502			"""D, N, Mis, F, S"""		DLBCL																																	dbGAP		Rec	yes		6	6q21	639	"""PR domain containing 1, with ZNF domain"""		L	0													129.0	107.0	114.0					6																	106554322		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS5054.2, CCDS34505.1	6q21	2013-01-08			ENSG00000057657	ENSG00000057657		"""Zinc fingers, C2H2-type"""	9346	protein-coding gene	gene with protein product		603423		BLIMP1		1851123	Standard	NM_001198		Approved	PRDI-BF1	uc003prd.2	O75626	OTTHUMG00000015299	ENST00000369096.4:c.1850A>G	6.37:g.106554322A>G	ENSP00000358092:p.His617Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	B2REA6|E1P5E0|Q86WM7	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pirsf_Znf_PRDM1,pfscan_SET_dom,pfscan_Znf_C2H2	p.H617R	ENST00000369096.4	37	c.1850	CCDS5054.2	6	.	.	.	.	.	.	.	.	.	.	A	27.0	4.789663	0.90367	.	.	ENSG00000057657	ENST00000369091;ENST00000369096;ENST00000456278;ENST00000369089	T;T;T	0.12984	2.63;2.63;2.63	5.44	5.44	0.79542	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.041575	0.85682	D	0.000000	T	0.17577	0.0422	L	0.28649	0.875	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.999;0.999	T	0.02837	-1.1104	10	0.54805	T	0.06	-34.2247	15.4987	0.75677	1.0:0.0:0.0:0.0	.	483;617	Q86WM7;O75626	.;PRDM1_HUMAN	R	581;617;580;483	ENSP00000358087:H581R;ENSP00000358092:H617R;ENSP00000358085:H483R	ENSP00000358085:H483R	H	+	2	0	PRDM1	106661015	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.362000	0.79507	2.077000	0.62373	0.533000	0.62120	CAC	PRDM1	-	smart_Znf_C2H2-like,pirsf_Znf_PRDM1,pfscan_Znf_C2H2	ENSG00000057657		0.502	PRDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDM1	HGNC	protein_coding	OTTHUMT00000041661.3	53	0.00	0	A			106554322	106554322	+1	no_errors	ENST00000369096	ensembl	human	known	69_37n	missense	79	16.84	16	SNP	1.000	G
RAB11FIP3	9727	genome.wustl.edu	37	16	569771	569771	+	Silent	SNP	G	G	A			TCGA-D8-A1JP-01A-11D-A13L-09	TCGA-D8-A1JP-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1e21a355-0cb6-4a43-b134-50ff88dacf92	6eeba22a-d922-4fc8-abc1-ae8bc9eee928	g.chr16:569771G>A	ENST00000262305.4	+	11	2128	c.1740G>A	c.(1738-1740)ttG>ttA	p.L580L	RAB11FIP3_ENST00000450428.1_Silent_p.L284L|RAB11FIP3_ENST00000457159.1_Silent_p.L625L	NM_014700.3	NP_055515.1	O75154	RFIP3_HUMAN	RAB11 family interacting protein 3 (class II)	580	ARF-binding domain (ABD).				cytokinesis (GO:0000910)|endocytic recycling (GO:0032456)|vesicle-mediated transport (GO:0016192)	centrosome (GO:0005813)|cleavage furrow (GO:0032154)|endosome (GO:0005768)|intercellular bridge (GO:0045171)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)|recycling endosome (GO:0055037)	ADP-ribosylation factor binding (GO:0030306)|calcium ion binding (GO:0005509)|protein homodimerization activity (GO:0042803)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(2)|kidney(3)|lung(5)|upper_aerodigestive_tract(1)	12		Hepatocellular(16;0.0218)				AGAAGCTGTTGGATGAGATAG	0.607																																					Melanoma(160;2366 2595 4474 8099)	dbGAP											0													71.0	63.0	66.0					16																	569771		2199	4298	6497	-	-	-	SO:0001819	synonymous_variant	0			AB014565	CCDS32351.1, CCDS45364.1	16p13.3	2013-01-10			ENSG00000090565	ENSG00000090565		"""EF-hand domain containing"""	17224	protein-coding gene	gene with protein product		608738				9734811, 11481332	Standard	NM_014700		Approved	KIAA0665, Rab11-FIP3, eferin	uc002chf.3	O75154	OTTHUMG00000047843	ENST00000262305.4:c.1740G>A	16.37:g.569771G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B0QYI8|B0QYT8|B1AHQ0|B4DEI7|B4DZR6|Q4VXV7|Q7Z5E9|Q9H155|Q9H1G0|Q9NUI0	Silent	SNP	pfam_Rab-bd_FIP-RBD,pfscan_EF_HAND_2	p.L625	ENST00000262305.4	37	c.1875	CCDS32351.1	16																																																																																			RAB11FIP3	-	NULL	ENSG00000090565		0.607	RAB11FIP3-001	KNOWN	basic|CCDS	protein_coding	RAB11FIP3	HGNC	protein_coding	OTTHUMT00000109066.4	36	0.00	0	G	NM_014700		569771	569771	+1	no_errors	ENST00000457159	ensembl	human	known	69_37n	silent	22	38.89	14	SNP	1.000	A
RBM45	129831	genome.wustl.edu	37	2	178988887	178988887	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JP-01A-11D-A13L-09	TCGA-D8-A1JP-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1e21a355-0cb6-4a43-b134-50ff88dacf92	6eeba22a-d922-4fc8-abc1-ae8bc9eee928	g.chr2:178988887C>G	ENST00000286070.5	+	8	1194	c.1102C>G	c.(1102-1104)Caa>Gaa	p.Q368E		NM_152945.2	NP_694453.2	Q8IUH3	RBM45_HUMAN	RNA binding motif protein 45	370					cell differentiation (GO:0030154)|nervous system development (GO:0007399)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037)			ACAGTTGCCTCAAATCCAGAC	0.373																																						dbGAP											0													82.0	91.0	88.0					2																	178988887		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF526533	CCDS33335.1	2q31.2	2013-02-12			ENSG00000155636	ENSG00000155636		"""RNA binding motif (RRM) containing"""	24468	protein-coding gene	gene with protein product	"""developmentally regulated RNA binding protein 1"""	608888				12220514	Standard	XM_005246287		Approved	DRB1, FLJ44612	uc002ulv.3	Q8IUH3	OTTHUMG00000154202	ENST00000286070.5:c.1102C>G	2.37:g.178988887C>G	ENSP00000286070:p.Gln368Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6NYL0|Q8NFC9	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.Q368E	ENST00000286070.5	37	c.1102	CCDS33335.1	2	.	.	.	.	.	.	.	.	.	.	C	19.07	3.755849	0.69648	.	.	ENSG00000155636	ENST00000286070	T	0.05025	3.51	5.73	5.73	0.89815	.	0.062767	0.64402	D	0.000002	T	0.10637	0.0260	L	0.50333	1.59	0.54753	D	0.999986	P	0.38370	0.628	B	0.40066	0.318	T	0.11108	-1.0601	10	0.30078	T	0.28	-15.3607	18.9016	0.92444	0.0:1.0:0.0:0.0	.	368	Q8IUH3-3	.	E	368	ENSP00000286070:Q368E	ENSP00000286070:Q368E	Q	+	1	0	RBM45	178697133	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.904000	0.75708	2.708000	0.92522	0.467000	0.42956	CAA	RBM45	-	NULL	ENSG00000155636		0.373	RBM45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM45	HGNC	protein_coding	OTTHUMT00000334375.2	18	0.00	0	C	NM_152945		178988887	178988887	+1	no_errors	ENST00000286070	ensembl	human	known	69_37n	missense	15	44.44	12	SNP	1.000	G
RGSL1	353299	genome.wustl.edu	37	1	182441609	182441609	+	Missense_Mutation	SNP	A	A	T			TCGA-D8-A1JP-01A-11D-A13L-09	TCGA-D8-A1JP-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1e21a355-0cb6-4a43-b134-50ff88dacf92	6eeba22a-d922-4fc8-abc1-ae8bc9eee928	g.chr1:182441609A>T	ENST00000294854.8	+	5	400	c.380A>T	c.(379-381)tAc>tTc	p.Y127F	RGSL1_ENST00000542961.1_Missense_Mutation_p.Y162F	NM_001137669.1	NP_001131141.1	A5PLK6	RGSL_HUMAN	regulator of G-protein signaling like 1	127					termination of G-protein coupled receptor signaling pathway (GO:0038032)	integral component of membrane (GO:0016021)				central_nervous_system(2)|skin(4)	6						GTGAGAGACTACTACCTGTCC	0.498																																					Ovarian(71;11 616 11292 12944 18021 32289 33994 41738 46526)	dbGAP											0													142.0	133.0	136.0					1																	182441609		692	1591	2283	-	-	-	SO:0001583	missense	0			AF510428	CCDS58049.1	1q25	2013-04-02	2007-08-14		ENSG00000121446	ENSG00000121446			18636	protein-coding gene	gene with protein product		611012	"""regulator of G-protein signalling like 1"", ""regulator of G-protein signaling like 2"", ""regulator of G-protein signalling like 2"""	RGSL2		12801632	Standard	NM_001137669		Approved		uc009wxw.3	A5PLK6	OTTHUMG00000035217	ENST00000294854.8:c.380A>T	1.37:g.182441609A>T	ENSP00000457748:p.Tyr127Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A2Z0|A6PVM2|A6PVM3|Q0VAJ4|Q0VAJ5|Q6ZRL0|Q86UV0|Q9H084	Missense_Mutation	SNP	pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam	p.Y127F	ENST00000294854.8	37	c.380	CCDS58049.1	1																																																																																			RGSL1	-	superfamily_Regulat_G_prot_signal_superfam	ENSG00000121446		0.498	RGSL1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	RGSL1	HGNC	protein_coding	OTTHUMT00000320710.3	48	0.00	0	A	NM_181572		182441609	182441609	+1	no_errors	ENST00000294854	ensembl	human	known	69_37n	missense	87	25.00	29	SNP	0.335	T
RGS8	85397	genome.wustl.edu	37	1	182640821	182640821	+	5'UTR	SNP	G	G	T			TCGA-D8-A1JP-01A-11D-A13L-09	TCGA-D8-A1JP-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1e21a355-0cb6-4a43-b134-50ff88dacf92	6eeba22a-d922-4fc8-abc1-ae8bc9eee928	g.chr1:182640821G>T	ENST00000483095.2	-	0	125				RGS8_ENST00000491420.2_5'UTR|RGS8_ENST00000367556.1_5'UTR|RGS8_ENST00000258302.4_Missense_Mutation_p.D17E|RGS8_ENST00000367557.4_5'UTR			P57771	RGS8_HUMAN	regulator of G-protein signaling 8						positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			haematopoietic_and_lymphoid_tissue(1)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	5						TGGCCTGAGGGTCTTTGCCAA	0.483																																					Ovarian(189;1262 3804 41973)	dbGAP											0													165.0	164.0	164.0					1																	182640821		2203	4300	6503	-	-	-	SO:0001623	5_prime_UTR_variant	0			AF297015	CCDS1349.1, CCDS41443.1	1q25	2008-07-18	2007-08-14		ENSG00000135824	ENSG00000135824		"""Regulators of G-protein signaling"""	16810	protein-coding gene	gene with protein product		607189	"""regulator of G-protein signalling 8"""			11318611	Standard	NM_001102450		Approved	MGC119067, MGC119068, MGC119069	uc001gpm.1	P57771	OTTHUMG00000035219	ENST00000483095.2:c.-133C>A	1.37:g.182640821G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DGL9|Q3SYD2	Missense_Mutation	SNP	pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal	p.D17E	ENST00000483095.2	37	c.51	CCDS41443.1	1	.	.	.	.	.	.	.	.	.	.	G	10.49	1.364307	0.24684	.	.	ENSG00000135824	ENST00000258302	T	0.45668	0.89	5.28	4.34	0.51931	.	7.406300	0.00166	N	0.000009	T	0.25606	0.0623	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.36089	-0.9762	9	0.02654	T	1	.	10.8747	0.46904	0.0:0.0:0.6581:0.3419	.	17	P57771-2	.	E	17	ENSP00000258302:D17E	ENSP00000258302:D17E	D	-	3	2	RGS8	180907444	0.998000	0.40836	0.998000	0.56505	0.996000	0.88848	1.386000	0.34419	1.176000	0.42840	0.563000	0.77884	GAC	RGS8	-	NULL	ENSG00000135824		0.483	RGS8-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RGS8	HGNC	protein_coding	OTTHUMT00000358979.1	122	0.00	0	G	NM_033345		182640821	182640821	-1	no_errors	ENST00000258302	ensembl	human	known	69_37n	missense	292	13.61	46	SNP	0.999	T
RNF10	9921	genome.wustl.edu	37	12	121001615	121001615	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1JP-01A-11D-A13L-09	TCGA-D8-A1JP-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1e21a355-0cb6-4a43-b134-50ff88dacf92	6eeba22a-d922-4fc8-abc1-ae8bc9eee928	g.chr12:121001615G>A	ENST00000325954.4	+	10	1995	c.1534G>A	c.(1534-1536)Gaa>Aaa	p.E512K	RNF10_ENST00000413266.2_Missense_Mutation_p.E517K	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN	ring finger protein 10	512					negative regulation of Schwann cell proliferation (GO:0010626)|positive regulation of myelination (GO:0031643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autoubiquitination (GO:0051865)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GTCCTCAGCGGAAGATGGACA	0.617																																						dbGAP											0													153.0	132.0	139.0					12																	121001615		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB027196	CCDS9201.1	12q23-q24	2013-01-09			ENSG00000022840	ENSG00000022840		"""RING-type (C3HC4) zinc fingers"""	10055	protein-coding gene	gene with protein product							Standard	NM_014868		Approved	KIAA0262, RIE2	uc001typ.4	Q8N5U6	OTTHUMG00000168999	ENST00000325954.4:c.1534G>A	12.37:g.121001615G>A	ENSP00000322242:p.Glu512Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q92550|Q9NPP8|Q9ULW4	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.E517K	ENST00000325954.4	37	c.1549	CCDS9201.1	12	.	.	.	.	.	.	.	.	.	.	G	24.1	4.496999	0.85069	.	.	ENSG00000022840	ENST00000325954;ENST00000458409;ENST00000413266	T;T	0.19250	2.16;2.16	5.85	5.85	0.93711	.	0.152337	0.64402	D	0.000017	T	0.30759	0.0775	L	0.40543	1.245	0.80722	D	1	D;D	0.62365	0.991;0.967	P;P	0.56612	0.802;0.532	T	0.01448	-1.1352	10	0.07175	T	0.84	.	20.1736	0.98170	0.0:0.0:1.0:0.0	.	517;512	Q8N5U6-2;Q8N5U6	.;RNF10_HUMAN	K	512;512;517	ENSP00000322242:E512K;ENSP00000415682:E517K	ENSP00000322242:E512K	E	+	1	0	RNF10	119485998	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	9.869000	0.99810	2.767000	0.95098	0.557000	0.71058	GAA	RNF10	-	NULL	ENSG00000022840		0.617	RNF10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF10	HGNC	protein_coding	OTTHUMT00000401898.4	60	0.00	0	G			121001615	121001615	+1	no_errors	ENST00000413266	ensembl	human	known	69_37n	missense	36	33.33	18	SNP	1.000	A
RSBN1	54665	genome.wustl.edu	37	1	114340437	114340437	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1JP-01A-11D-A13L-09	TCGA-D8-A1JP-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1e21a355-0cb6-4a43-b134-50ff88dacf92	6eeba22a-d922-4fc8-abc1-ae8bc9eee928	g.chr1:114340437A>G	ENST00000261441.5	-	2	988	c.925T>C	c.(925-927)Ttc>Ctc	p.F309L		NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	309						nucleus (GO:0005634)				breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-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)		AGATACCTGAAGGACTCCTTA	0.438																																						dbGAP											0													130.0	129.0	130.0					1																	114340437		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK002082	CCDS862.1	1p13.1	2008-02-05			ENSG00000081019	ENSG00000081019			25642	protein-coding gene	gene with protein product		615858				12477932	Standard	NM_018364		Approved	FLJ11220, ROSBIN	uc001edq.3	Q5VWQ0	OTTHUMG00000011938	ENST00000261441.5:c.925T>C	1.37:g.114340437A>G	ENSP00000261441:p.Phe309Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K937|Q6AI21|Q8TC33|Q9HA80|Q9NUP6	Missense_Mutation	SNP	NULL	p.F309L	ENST00000261441.5	37	c.925	CCDS862.1	1	.	.	.	.	.	.	.	.	.	.	A	15.32	2.797762	0.50208	.	.	ENSG00000081019	ENST00000261441	.	.	.	5.84	5.84	0.93424	.	0.175229	0.52532	D	0.000077	T	0.34948	0.0915	L	0.40543	1.245	0.42271	D	0.992052	P	0.41450	0.75	B	0.39562	0.303	T	0.22452	-1.0216	9	0.16896	T	0.51	-7.3845	16.2108	0.82158	1.0:0.0:0.0:0.0	.	309	Q5VWQ0	RSBN1_HUMAN	L	309	.	ENSP00000261441:F309L	F	-	1	0	RSBN1	114141960	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.994000	0.70623	2.232000	0.73038	0.533000	0.62120	TTC	RSBN1	-	NULL	ENSG00000081019		0.438	RSBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RSBN1	HGNC	protein_coding	OTTHUMT00000033022.2	67	0.00	0	A	NM_018364		114340437	114340437	-1	no_errors	ENST00000261441	ensembl	human	known	69_37n	missense	23	54.00	27	SNP	1.000	G
SAA3P	6290	genome.wustl.edu	37	11	18137607	18137607	+	RNA	DEL	C	C	-			TCGA-D8-A1JP-01A-11D-A13L-09	TCGA-D8-A1JP-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1e21a355-0cb6-4a43-b134-50ff88dacf92	6eeba22a-d922-4fc8-abc1-ae8bc9eee928	g.chr11:18137607delC	ENST00000534768.1	-	0	72					NR_026576.1				serum amyloid A3 pseudogene											lung(2)	2						GAAAATGATGCCAGTGGAGAG	0.483											OREG0020820	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0																																										-	-	-			0			S73444		11p15.1	2014-06-05			ENSG00000166787	ENSG00000166787			10515	pseudogene	pseudogene				SAA3		8325654, 2558975	Standard	NR_026576		Approved		uc001mnt.3		OTTHUMG00000166433		11.37:g.18137607delC		Somatic	723	WXS	Illumina GAIIx	Phase_IV		RNA	DEL	-	NULL	ENST00000534768.1	37	NULL		11																																																																																			SAA3P	-	-	ENSG00000166787		0.483	SAA3P-002	KNOWN	basic	processed_transcript	SAA3P	HGNC	pseudogene	OTTHUMT00000389765.1	10	0.00	0	C			18137607	18137607	-1	no_errors	ENST00000534768	ensembl	human	known	69_37n	rna	15	37.50	9	DEL	0.000	-
SCN9A	6335	genome.wustl.edu	37	2	167163093	167163093	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1JP-01A-11D-A13L-09	TCGA-D8-A1JP-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1e21a355-0cb6-4a43-b134-50ff88dacf92	6eeba22a-d922-4fc8-abc1-ae8bc9eee928	g.chr2:167163093T>C	ENST00000409435.1	-	3	393	c.394A>G	c.(394-396)Atc>Gtc	p.I132V	SCN9A_ENST00000303354.6_Missense_Mutation_p.I133V|SCN9A_ENST00000375387.4_Missense_Mutation_p.I133V|SCN9A_ENST00000409672.1_Missense_Mutation_p.I132V			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	132					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GTGCACATGATGAGCATGCTG	0.368																																						dbGAP											0													75.0	75.0	75.0					2																	167163093		1942	4198	6140	-	-	-	SO:0001583	missense	0			X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.394A>G	2.37:g.167163093T>C	ENSP00000386330:p.Ile132Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2	p.I133V	ENST00000409435.1	37	c.397	CCDS46441.1	2	.	.	.	.	.	.	.	.	.	.	t	18.95	3.731885	0.69189	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435	D;D;D;D	0.97665	-4.48;-4.48;-4.48;-4.48	5.96	5.96	0.96718	.	0.000000	0.64402	D	0.000005	D	0.96713	0.8927	M	0.79011	2.435	0.58432	D	0.999998	B;B;B	0.32753	0.383;0.112;0.098	B;B;B	0.35182	0.197;0.126;0.047	D	0.96377	0.9278	10	0.87932	D	0	.	16.4447	0.83919	0.0:0.0:0.0:1.0	.	132;132;133	E7EUN6;Q15858;E9PF08	.;SCN9A_HUMAN;.	V	132;133;133;132	ENSP00000386306:I132V;ENSP00000364536:I133V;ENSP00000304748:I133V;ENSP00000386330:I132V	ENSP00000304748:I133V	I	-	1	0	SCN9A	166871339	1.000000	0.71417	0.993000	0.49108	0.966000	0.64601	8.040000	0.89188	2.284000	0.76573	0.528000	0.53228	ATC	SCN9A	-	NULL	ENSG00000169432		0.368	SCN9A-004	KNOWN	basic|CCDS	protein_coding	SCN9A	HGNC	protein_coding	OTTHUMT00000333639.1	112	0.00	0	T	NM_002977		167163093	167163093	-1	no_errors	ENST00000303354	ensembl	human	known	69_37n	missense	101	39.88	67	SNP	1.000	C
SGSM2	9905	genome.wustl.edu	37	17	2282366	2282366	+	Missense_Mutation	SNP	T	T	C	rs547672593		TCGA-D8-A1JP-01A-11D-A13L-09	TCGA-D8-A1JP-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1e21a355-0cb6-4a43-b134-50ff88dacf92	6eeba22a-d922-4fc8-abc1-ae8bc9eee928	g.chr17:2282366T>C	ENST00000426855.2	+	22	2976	c.2801T>C	c.(2800-2802)gTg>gCg	p.V934A	RP1-59D14.5_ENST00000574290.1_RNA|SGSM2_ENST00000574563.1_Missense_Mutation_p.V934A|SGSM2_ENST00000268989.3_Missense_Mutation_p.V979A|RP1-59D14.5_ENST00000573007.1_RNA	NM_001098509.1	NP_001091979.1	O43147	SGSM2_HUMAN	small G protein signaling modulator 2	934	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				late endosome to Golgi transport (GO:0034499)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)		Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		GTGTGGGAGGTGATCTGGGCA	0.582													T|||	1	0.000199681	0.0	0.0	5008	,	,		19130	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													171.0	120.0	137.0					17																	2282366		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC039204	CCDS32526.1, CCDS45570.1	17p13.3	2013-07-10	2007-08-14	2007-08-14		ENSG00000141258		"""Small G protein signaling modulators"""	29026	protein-coding gene	gene with protein product		611418	"""RUN and TBC1 domain containing 1"""	RUTBC1		9455477, 17509819, 21808068	Standard	NM_014853		Approved	KIAA0397	uc002fum.4	O43147		ENST00000426855.2:c.2801T>C	17.37:g.2282366T>C	ENSP00000415107:p.Val934Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A5LGW2|B4DH69|Q49AC2|Q6ZUY2|Q8IXU4	Missense_Mutation	SNP	pfam_Run,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Run,smart_Rab-GTPase-TBC_dom,pfscan_Run,pfscan_Rab-GTPase-TBC_dom	p.V979A	ENST00000426855.2	37	c.2936	CCDS45570.1	17	.	.	.	.	.	.	.	.	.	.	T	22.9	4.352494	0.82132	.	.	ENSG00000141258	ENST00000268989;ENST00000426855	T;T	0.11712	2.75;2.75	5.43	5.43	0.79202	Rab-GAP/TBC domain (4);	0.000000	0.85682	D	0.000000	T	0.26882	0.0658	L	0.46819	1.47	0.58432	D	0.999999	D;D;D;D	0.76494	0.963;0.999;0.999;0.961	P;D;D;P	0.85130	0.792;0.997;0.997;0.79	T	0.00634	-1.1634	10	0.56958	D	0.05	-15.8182	14.6484	0.68777	0.0:0.0:0.0:1.0	.	934;934;934;979	O43147-5;B9A6J3;O43147;O43147-2	.;.;SGSM2_HUMAN;.	A	979;934	ENSP00000268989:V979A;ENSP00000415107:V934A	ENSP00000268989:V979A	V	+	2	0	SGSM2	2229116	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.336000	0.43938	2.079000	0.62486	0.459000	0.35465	GTG	SGSM2	-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	ENSG00000141258		0.582	SGSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGSM2	HGNC	protein_coding	OTTHUMT00000438186.1	97	0.00	0	T	NM_014853		2282366	2282366	+1	no_errors	ENST00000268989	ensembl	human	known	69_37n	missense	18	67.86	38	SNP	1.000	C
SIPA1L3	23094	genome.wustl.edu	37	19	38610164	38610164	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JP-01A-11D-A13L-09	TCGA-D8-A1JP-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1e21a355-0cb6-4a43-b134-50ff88dacf92	6eeba22a-d922-4fc8-abc1-ae8bc9eee928	g.chr19:38610164C>G	ENST00000222345.6	+	9	3019	c.2510C>G	c.(2509-2511)cCc>cGc	p.P837R		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	837					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TCCAACACCCCCATCGACTCC	0.587																																						dbGAP											0													87.0	74.0	78.0					19																	38610164		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.2510C>G	19.37:g.38610164C>G	ENSP00000222345:p.Pro837Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2TV87	Missense_Mutation	SNP	pfam_DUF3401,pfam_Rap_GAP,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP	p.P837R	ENST00000222345.6	37	c.2510	CCDS33007.1	19	.	.	.	.	.	.	.	.	.	.	C	26.0	4.696516	0.88830	.	.	ENSG00000105738	ENST00000222345	T	0.61274	0.12	5.75	5.75	0.90469	.	0.053563	0.85682	D	0.000000	T	0.60495	0.2273	M	0.71036	2.16	0.58432	D	0.999999	P	0.35894	0.526	B	0.34301	0.179	T	0.64905	-0.6297	10	0.66056	D	0.02	-42.409	18.7237	0.91705	0.0:1.0:0.0:0.0	.	837	O60292	SI1L3_HUMAN	R	837	ENSP00000222345:P837R	ENSP00000222345:P837R	P	+	2	0	SIPA1L3	43302004	0.999000	0.42202	1.000000	0.80357	0.974000	0.67602	5.892000	0.69790	2.725000	0.93324	0.655000	0.94253	CCC	SIPA1L3	-	NULL	ENSG00000105738		0.587	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIPA1L3	HGNC	protein_coding	OTTHUMT00000156294.2	73	0.00	0	C	XM_032278		38610164	38610164	+1	no_errors	ENST00000222345	ensembl	human	known	69_37n	missense	43	30.65	19	SNP	1.000	G
SLCO3A1	28232	genome.wustl.edu	37	15	92638112	92638112	+	Splice_Site	SNP	A	A	T			TCGA-D8-A1JP-01A-11D-A13L-09	TCGA-D8-A1JP-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1e21a355-0cb6-4a43-b134-50ff88dacf92	6eeba22a-d922-4fc8-abc1-ae8bc9eee928	g.chr15:92638112A>T	ENST00000318445.6	+	3	862	c.648A>T	c.(646-648)ggA>ggT	p.G216G	SLCO3A1_ENST00000424469.2_Splice_Site_p.G216G	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	216					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)		Alprostadil(DB00770)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Iloprost(DB01088)|Methotrexate(DB00563)	TTCCTTCAGGAATCCTGTTCA	0.403																																						dbGAP											0													142.0	137.0	139.0					15																	92638112		2198	4298	6496	-	-	-	SO:0001630	splice_region_variant	0			AB031050	CCDS10371.1, CCDS45354.1	15q26	2013-05-22	2003-11-25	2003-11-26	ENSG00000176463	ENSG00000176463		"""Solute carriers"""	10952	protein-coding gene	gene with protein product		612435	"""solute carrier family 21 (organic anion transporter), member 11"""	SLC21A11			Standard	NM_001145044		Approved	OATP-D, OATP3A1	uc002bqx.2	Q9UIG8	OTTHUMG00000149846	ENST00000318445.6:c.647-1A>T	15.37:g.92638112A>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4A7|B3KPY5|B3KUR7|C6G486|Q9BW73|Q9GZV2	Missense_Mutation	SNP	pfam_OA_transporter	p.R9S	ENST00000318445.6	37	c.27	CCDS10371.1	15	.	.	.	.	.	.	.	.	.	.	A	9.750	1.167347	0.21621	.	.	ENSG00000176463	ENST00000556649	.	.	.	5.83	2.14	0.27477	.	.	.	.	.	T	0.46190	0.1380	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.27905	-1.0060	4	.	.	.	.	3.6756	0.08291	0.524:0.1985:0.2775:0.0	.	.	.	.	S	9	.	.	R	+	3	2	SLCO3A1	90439116	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	1.094000	0.30951	0.454000	0.26884	0.533000	0.62120	AGA	SLCO3A1	-	pfam_OA_transporter	ENSG00000176463		0.403	SLCO3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO3A1	HGNC	protein_coding	OTTHUMT00000313529.1	152	0.00	0	A	NM_013272	Silent	92638112	92638112	+1	no_stop_codon:bad_bp_length_for_coding_region	ENST00000556649	ensembl	human	putative	69_37n	missense	218	23.24	66	SNP	0.998	T
SORBS3	10174	genome.wustl.edu	37	8	22424226	22424226	+	Splice_Site	SNP	G	G	A			TCGA-D8-A1JP-01A-11D-A13L-09	TCGA-D8-A1JP-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1e21a355-0cb6-4a43-b134-50ff88dacf92	6eeba22a-d922-4fc8-abc1-ae8bc9eee928	g.chr8:22424226G>A	ENST00000240123.7	+	14	1526	c.1143G>A	c.(1141-1143)aaG>aaA	p.K381K	SORBS3_ENST00000523740.1_3'UTR|SORBS3_ENST00000428103.1_Splice_Site_p.K39K|RP11-582J16.3_ENST00000517384.1_RNA	NM_005775.4	NP_005766.3	O60504	VINEX_HUMAN	sorbin and SH3 domain containing 3	381	Binds to vinculin.|SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|muscle contraction (GO:0006936)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cytoskeleton organization (GO:0051495)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of stress fiber assembly (GO:0051496)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)	18		Prostate(55;0.0421)|Breast(100;0.102)		BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		AAGAGAAGAAGGTAAGGAGGG	0.632																																						dbGAP											0													51.0	56.0	54.0					8																	22424226		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0				CCDS6031.1	8p21.3	2008-02-05			ENSG00000120896	ENSG00000120896			30907	protein-coding gene	gene with protein product		610795				9885244, 12510380	Standard	NM_001018003		Approved	SCAM-1, SH3D4, vinexin	uc003xbv.3	O60504	OTTHUMG00000131728	ENST00000240123.7:c.1143+1G>A	8.37:g.22424226G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5BJE4|Q6NX54|Q96FY4|Q9UQE4	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain,prints_Spectrin_alpha_SH3	p.E53K	ENST00000240123.7	37	c.157	CCDS6031.1	8	.	.	.	.	.	.	.	.	.	.	G	17.15	3.316394	0.60524	.	.	ENSG00000120896	ENST00000521554	.	.	.	5.73	3.95	0.45737	.	.	.	.	.	T	0.58793	0.2147	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54214	-0.8327	4	.	.	.	-12.6084	8.8055	0.34934	0.1724:0.0:0.8276:0.0	.	.	.	.	K	53	.	.	E	+	1	0	SORBS3	22480171	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	6.686000	0.74548	0.788000	0.33755	0.655000	0.94253	GAG	SORBS3	-	superfamily_SH3_domain,pfscan_SH3_domain	ENSG00000120896		0.632	SORBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORBS3	HGNC	protein_coding	OTTHUMT00000254647.3	27	0.00	0	G	NM_005775	Silent	22424226	22424226	+1	no_start_codon:pseudogene:no_stop_codon	ENST00000521554	ensembl	human	putative	69_37n	missense	2	81.82	9	SNP	1.000	A
STARD8	9754	genome.wustl.edu	37	X	67941499	67941499	+	Missense_Mutation	SNP	A	A	C			TCGA-D8-A1JP-01A-11D-A13L-09	TCGA-D8-A1JP-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1e21a355-0cb6-4a43-b134-50ff88dacf92	6eeba22a-d922-4fc8-abc1-ae8bc9eee928	g.chrX:67941499A>C	ENST00000252336.6	+	9	2502	c.2130A>C	c.(2128-2130)gaA>gaC	p.E710D	STARD8_ENST00000374597.3_Missense_Mutation_p.E710D|STARD8_ENST00000374599.3_Missense_Mutation_p.E790D	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	710	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						CTGCCGAGGAAAACCAGATGA	0.567																																						dbGAP											0													95.0	78.0	84.0					X																	67941499		2203	4300	6503	-	-	-	SO:0001583	missense	0			D80011	CCDS14390.1, CCDS48134.1	Xq13.1	2011-09-13	2007-08-16		ENSG00000130052	ENSG00000130052		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	19161	protein-coding gene	gene with protein product		300689	"""START domain containing 8"""			8724849	Standard	NM_001142504		Approved	KIAA0189, ARHGAP38	uc004dxb.3	Q92502	OTTHUMG00000021748	ENST00000252336.6:c.2130A>C	X.37:g.67941499A>C	ENSP00000252336:p.Glu710Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6T2|D3DVT9|Q5JST0|Q68DG7	Missense_Mutation	SNP	pfam_START_lipid-bd,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd,pfscan_START_lipid-bd,pfscan_RhoGAP_dom	p.E790D	ENST00000252336.6	37	c.2370	CCDS14390.1	X	.	.	.	.	.	.	.	.	.	.	A	16.16	3.044503	0.55110	.	.	ENSG00000130052	ENST00000252336;ENST00000374599;ENST00000374597	T;T;T	0.18960	2.18;2.18;2.18	4.15	0.55	0.17219	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.152268	0.42548	D	0.000699	T	0.35828	0.0945	M	0.78344	2.41	0.44201	D	0.997027	B;D	0.53151	0.117;0.958	B;P	0.59643	0.21;0.861	T	0.06789	-1.0807	10	0.46703	T	0.11	.	6.7938	0.23715	0.6676:0.0:0.3324:0.0	.	790;710	Q92502-2;Q92502	.;STAR8_HUMAN	D	710;790;710	ENSP00000252336:E710D;ENSP00000363727:E790D;ENSP00000363725:E710D	ENSP00000252336:E710D	E	+	3	2	STARD8	67858224	1.000000	0.71417	0.993000	0.49108	0.608000	0.37181	1.005000	0.29834	0.143000	0.18926	-0.323000	0.08544	GAA	STARD8	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	ENSG00000130052		0.567	STARD8-201	KNOWN	basic|CCDS	protein_coding	STARD8	HGNC	protein_coding	OTTHUMT00000057026.2	81	0.00	0	A	NM_014725		67941499	67941499	+1	no_errors	ENST00000374599	ensembl	human	known	69_37n	missense	21	54.35	25	SNP	1.000	C
SYMPK	8189	genome.wustl.edu	37	19	46334728	46334728	+	Silent	SNP	A	A	C			TCGA-D8-A1JP-01A-11D-A13L-09	TCGA-D8-A1JP-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1e21a355-0cb6-4a43-b134-50ff88dacf92	6eeba22a-d922-4fc8-abc1-ae8bc9eee928	g.chr19:46334728A>C	ENST00000245934.7	-	12	1756	c.1512T>G	c.(1510-1512)ggT>ggG	p.G504G	AC092301.3_ENST00000601618.1_RNA	NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	504					cell adhesion (GO:0007155)|mRNA polyadenylation (GO:0006378)|positive regulation of protein dephosphorylation (GO:0035307)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		AGCTCAGGGAACCCACCACCG	0.627																																						dbGAP											0													90.0	73.0	79.0					19																	46334728		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U49240	CCDS12676.2	19q13.3	2008-02-05			ENSG00000125755	ENSG00000125755			22935	protein-coding gene	gene with protein product		602388				9330635	Standard	NM_004819		Approved	SYM, SPK	uc002pdn.3	Q92797	OTTHUMG00000150151	ENST00000245934.7:c.1512T>G	19.37:g.46334728A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	O00521|O00689|O00733|Q59GT5|Q8N2U5	Silent	SNP	pfam_DUF3453,pfam_Symplekin_C,superfamily_ARM-type_fold	p.G504	ENST00000245934.7	37	c.1512	CCDS12676.2	19																																																																																			SYMPK	-	superfamily_ARM-type_fold	ENSG00000125755		0.627	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYMPK	HGNC	protein_coding	OTTHUMT00000316581.1	82	0.00	0	A	NM_004819		46334728	46334728	-1	no_errors	ENST00000245934	ensembl	human	known	69_37n	silent	40	42.03	29	SNP	0.930	C
TBC1D8B	54885	genome.wustl.edu	37	X	106066568	106066568	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1JP-01A-11D-A13L-09	TCGA-D8-A1JP-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1e21a355-0cb6-4a43-b134-50ff88dacf92	6eeba22a-d922-4fc8-abc1-ae8bc9eee928	g.chrX:106066568G>A	ENST00000357242.5	+	5	873	c.699G>A	c.(697-699)atG>atA	p.M233I	TBC1D8B_ENST00000481617.2_Missense_Mutation_p.M233I|TBC1D8B_ENST00000310452.2_Missense_Mutation_p.M233I|TBC1D8B_ENST00000276175.3_Missense_Mutation_p.M233I	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	233							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						ACTTTTCAATGTTTTTGCACA	0.378																																						dbGAP											0													122.0	107.0	112.0					X																	106066568		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK123957	CCDS14522.1, CCDS14523.1	Xq22.3	2013-01-10			ENSG00000133138	ENSG00000133138		"""EF-hand domain containing"""	24715	protein-coding gene	gene with protein product						8889548	Standard	NM_017752		Approved	FLJ20298, RP11-321G1.1	uc004emo.3	Q0IIM8	OTTHUMG00000022152	ENST00000357242.5:c.699G>A	X.37:g.106066568G>A	ENSP00000349781:p.Met233Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B9A6K5|B9A6K6|Q5JRB7|Q6ZVX5|Q9NXE3	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_HAND_2,pfscan_Rab-GTPase-TBC_dom	p.M233I	ENST00000357242.5	37	c.699	CCDS14522.1	X	.	.	.	.	.	.	.	.	.	.	G	25.5	4.641657	0.87859	.	.	ENSG00000133138	ENST00000357242;ENST00000310452;ENST00000481617;ENST00000276175	T;T;T;T	0.24538	3.01;2.45;1.85;3.0	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.52581	0.1743	M	0.77313	2.365	0.80722	D	1	D;P;D	0.60575	0.975;0.945;0.988	D;P;D	0.65684	0.937;0.777;0.914	T	0.55418	-0.8144	10	0.62326	D	0.03	-19.5771	17.308	0.87200	0.0:0.0:1.0:0.0	.	233;233;233	Q0IIM8;B9A6K6;D6RFZ2	TBC8B_HUMAN;.;.	I	233	ENSP00000349781:M233I;ENSP00000310675:M233I;ENSP00000421375:M233I;ENSP00000276175:M233I	ENSP00000276175:M233I	M	+	3	0	TBC1D8B	105953224	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.476000	0.97823	2.405000	0.81733	0.594000	0.82650	ATG	TBC1D8B	-	NULL	ENSG00000133138		0.378	TBC1D8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBC1D8B	HGNC	protein_coding	OTTHUMT00000057807.2	46	0.00	0	G	NM_017752		106066568	106066568	+1	no_errors	ENST00000357242	ensembl	human	known	69_37n	missense	55	17.65	12	SNP	1.000	A
TICRR	90381	genome.wustl.edu	37	15	90167547	90167547	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1JP-01A-11D-A13L-09	TCGA-D8-A1JP-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1e21a355-0cb6-4a43-b134-50ff88dacf92	6eeba22a-d922-4fc8-abc1-ae8bc9eee928	g.chr15:90167547G>A	ENST00000268138.7	+	20	4111	c.4006G>A	c.(4006-4008)Gga>Aga	p.G1336R	KIF7_ENST00000558928.1_Intron|TICRR_ENST00000560985.1_Missense_Mutation_p.G1335R			Q7Z2Z1	TICRR_HUMAN	TOPBP1-interacting checkpoint and replication regulator	1336	Pro-rich.				cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|formation of translation preinitiation complex (GO:0001731)|mitotic DNA replication checkpoint (GO:0033314)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	chromatin binding (GO:0003682)										TCCTTCCCCAGGAGAACTGGA	0.493																																						dbGAP											0													99.0	104.0	102.0					15																	90167547		2200	4299	6499	-	-	-	SO:0001583	missense	0			AK123612	CCDS10352.2	15q26.1	2012-07-11	2012-07-11	2012-07-11	ENSG00000140534	ENSG00000140534			28704	protein-coding gene	gene with protein product	"""TOPBP1-interacting replication-stimulating protein"", ""SLD3 homolog (S. cerevisiae)"""	613298	"""chromosome 15 open reading frame 42"""	C15orf42		20116089, 20080954	Standard	NM_152259		Approved	MGC45866, FLJ41618, Treslin, SLD3	uc002boe.3	Q7Z2Z1	OTTHUMG00000149648	ENST00000268138.7:c.4006G>A	15.37:g.90167547G>A	ENSP00000268138:p.Gly1336Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RE07|B3KVV9|D3IUT4|Q8N4X8|Q8NCH6|Q9BU55	Missense_Mutation	SNP	NULL	p.G1336R	ENST00000268138.7	37	c.4006	CCDS10352.2	15	.	.	.	.	.	.	.	.	.	.	G	3.703	-0.061229	0.07317	.	.	ENSG00000140534	ENST00000268138	T	0.13538	2.58	4.41	1.47	0.22746	.	0.945585	0.08673	N	0.910637	T	0.07548	0.0190	N	0.17082	0.46	0.09310	N	1	B	0.16802	0.019	B	0.16289	0.015	T	0.45366	-0.9266	10	0.16420	T	0.52	-1.8945	5.4683	0.16656	0.3191:0.1361:0.5448:0.0	.	1336	Q7Z2Z1	TICRR_HUMAN	R	1336	ENSP00000268138:G1336R	ENSP00000268138:G1336R	G	+	1	0	C15orf42	87968551	0.000000	0.05858	0.001000	0.08648	0.030000	0.12068	-0.131000	0.10482	0.083000	0.17047	0.655000	0.94253	GGA	TICRR	-	NULL	ENSG00000140534		0.493	TICRR-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	TICRR	HGNC	protein_coding	OTTHUMT00000312856.1	52	0.00	0	G	NM_152259		90167547	90167547	+1	no_errors	ENST00000268138	ensembl	human	known	69_37n	missense	56	22.22	16	SNP	0.000	A
TRBV11-1	28582	genome.wustl.edu	37	7	142223987	142223987	+	RNA	SNP	C	C	T			TCGA-D8-A1JP-01A-11D-A13L-09	TCGA-D8-A1JP-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1e21a355-0cb6-4a43-b134-50ff88dacf92	6eeba22a-d922-4fc8-abc1-ae8bc9eee928	g.chr7:142223987C>T	ENST00000390367.3	-	0	196									T cell receptor beta variable 11-1																		GCTCCGGGCCCTGTCCCAGGA	0.478																																						dbGAP											0													66.0	68.0	67.0					7																	142223987		1849	4085	5934	-	-	-			0			M33233		7q34	2012-02-07			ENSG00000211720	ENSG00000211720		"""T cell receptors / TRB locus"""	12180	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV111, TCRBV11S1, TCRBV21S1			OTTHUMG00000158505		7.37:g.142223987C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Ig_V-set,pfscan_Ig-like	p.Q60	ENST00000390367.3	37	c.180		7																																																																																			TRBV11-1	-	pfam_Ig_V-set,pfscan_Ig-like	ENSG00000211720		0.478	TRBV11-1-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TRBV11-1	HGNC	TR_V_gene	OTTHUMT00000351211.1	82	0.00	0	C	NG_001333		142223987	142223987	-1	no_stop_codon:bad_bp_length_for_coding_region	ENST00000390367	ensembl	human	known	69_37n	silent	76	31.53	35	SNP	0.000	T
TTN	7273	genome.wustl.edu	37	2	179433377	179433377	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1JP-01A-11D-A13L-09	TCGA-D8-A1JP-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1e21a355-0cb6-4a43-b134-50ff88dacf92	6eeba22a-d922-4fc8-abc1-ae8bc9eee928	g.chr2:179433377T>C	ENST00000591111.1	-	276	72783	c.72559A>G	c.(72559-72561)Acc>Gcc	p.T24187A	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T16955A|TTN_ENST00000589042.1_Missense_Mutation_p.T25828A|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T16888A|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T16763A|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T23260A|TTN-AS1_ENST00000438095.1_RNA			Q8WZ42	TITIN_HUMAN	titin	24187	Ig-like 121.				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)			CAGGTAATGGTTGGCTTAGGA	0.423																																						dbGAP											0													164.0	150.0	154.0					2																	179433377		1896	4128	6024	-	-	-	SO:0001583	missense	0			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.72559A>G	2.37:g.179433377T>C	ENSP00000465570:p.Thr24187Ala	Somatic		WXS	Illumina GAIIx	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.T23260A	ENST00000591111.1	37	c.69778		2	.	.	.	.	.	.	.	.	.	.	T	10.25	1.298534	0.23650	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27	6.03	3.6	0.41247	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.57036	0.2026	L	0.46819	1.47	0.23411	N	0.997739	B;B;B;B	0.10296	0.001;0.001;0.003;0.001	B;B;B;B	0.10450	0.005;0.005;0.005;0.005	T	0.53464	-0.8435	9	0.87932	D	0	.	5.8803	0.18852	0.1231:0.1301:0.0:0.7468	.	16763;16888;16955;24187	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	A	23260;16763;16955;16888;16761	ENSP00000343764:T23260A;ENSP00000434586:T16763A;ENSP00000340554:T16955A;ENSP00000352154:T16888A	ENSP00000340554:T16955A	T	-	1	0	TTN	179141623	1.000000	0.71417	0.903000	0.35520	0.904000	0.53231	3.457000	0.53007	1.060000	0.40578	0.533000	0.62120	ACC	TTN	-	pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000155657		0.423	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	91	0.00	0	T	NM_133378		179433377	179433377	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	79	34.71	42	SNP	1.000	C
ZBED4	9889	genome.wustl.edu	37	22	50279223	50279223	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JP-01A-11D-A13L-09	TCGA-D8-A1JP-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1e21a355-0cb6-4a43-b134-50ff88dacf92	6eeba22a-d922-4fc8-abc1-ae8bc9eee928	g.chr22:50279223C>T	ENST00000216268.5	+	2	2390	c.1913C>T	c.(1912-1914)gCt>gTt	p.A638V		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	638						cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		TTATCAGGCGCTTCCTCTTTT	0.522																																						dbGAP											0													40.0	46.0	44.0					22																	50279223		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB014537	CCDS33677.1	22q13.33	2013-05-03			ENSG00000100426	ENSG00000100426		"""Zinc fingers, BED-type"""	20721	protein-coding gene	gene with protein product		612552				23533661	Standard	NM_014838		Approved	KIAA0637	uc003bix.2	O75132	OTTHUMG00000150291	ENST00000216268.5:c.1913C>T	22.37:g.50279223C>T	ENSP00000216268:p.Ala638Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RZH1|Q1ECU0|Q9UGG8	Missense_Mutation	SNP	pfam_Znf_BED_prd,pfam_HATC,superfamily_RNaseH-like_dom,smart_Znf_BED_prd,pfscan_Znf_BED_prd	p.A638V	ENST00000216268.5	37	c.1913	CCDS33677.1	22	.	.	.	.	.	.	.	.	.	.	C	12.57	1.977916	0.34942	.	.	ENSG00000100426	ENST00000216268	T	0.44482	0.92	4.83	2.71	0.32032	.	0.587930	0.17056	N	0.188754	T	0.36358	0.0964	L	0.57536	1.79	0.09310	N	1	B	0.18741	0.03	B	0.16289	0.015	T	0.22661	-1.0210	10	0.23891	T	0.37	-11.1925	10.2974	0.43631	0.0:0.7904:0.1356:0.074	.	638	O75132	ZBED4_HUMAN	V	638	ENSP00000216268:A638V	ENSP00000216268:A638V	A	+	2	0	ZBED4	48665227	0.485000	0.25972	0.001000	0.08648	0.047000	0.14425	5.558000	0.67319	0.614000	0.30107	-0.150000	0.13652	GCT	ZBED4	-	NULL	ENSG00000100426		0.522	ZBED4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBED4	HGNC	protein_coding	OTTHUMT00000317408.2	37	0.00	0	C	NM_014838		50279223	50279223	+1	no_errors	ENST00000216268	ensembl	human	known	69_37n	missense	20	47.50	19	SNP	0.009	T
ZNF112	7771	genome.wustl.edu	37	19	44832009	44832009	+	Silent	SNP	T	T	G			TCGA-D8-A1JP-01A-11D-A13L-09	TCGA-D8-A1JP-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1e21a355-0cb6-4a43-b134-50ff88dacf92	6eeba22a-d922-4fc8-abc1-ae8bc9eee928	g.chr19:44832009T>G	ENST00000337401.4	-	5	2407	c.2319A>C	c.(2317-2319)ggA>ggC	p.G773G	ZNF112_ENST00000354340.4_Silent_p.G767G|ZNF112_ENST00000536500.1_Silent_p.G790G	NM_001083335.1	NP_001076804.1	Q9UJU3	ZN112_HUMAN	zinc finger protein 112	773					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										ATGGTTTCCCTCCTGTGTGAA	0.478																																						dbGAP											0													223.0	211.0	215.0					19																	44832009		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF198358		19q13.2	2014-02-06	2012-11-27		ENSG00000062370	ENSG00000062370		"""Zinc fingers, C2H2-type"""	12892	protein-coding gene	gene with protein product		603994	"""zinc finger protein 112 homolog (mouse)"", ""zinc finger protein 228"""	ZFP112, ZNF228			Standard	NM_013380		Approved			Q9UJU3	OTTHUMG00000182357	ENST00000337401.4:c.2319A>C	19.37:g.44832009T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A4FU53|Q9HCA7	Silent	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.G790	ENST00000337401.4	37	c.2370	CCDS54276.1	19																																																																																			ZFP112	-	pfscan_Znf_C2H2	ENSG00000062370		0.478	ZNF112-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFP112	HGNC	protein_coding	OTTHUMT00000460744.1	190	0.00	0	T	NM_013380		44832009	44832009	-1	no_errors	ENST00000536500	ensembl	human	known	69_37n	silent	225	33.82	115	SNP	0.929	G
ZFPM2	23414	genome.wustl.edu	37	8	106431375	106431376	+	Missense_Mutation	DNP	CG	CG	AA	rs200389635		TCGA-D8-A1JP-01A-11D-A13L-09	TCGA-D8-A1JP-10A-01D-A13O-09	C|G	C|G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1e21a355-0cb6-4a43-b134-50ff88dacf92	6eeba22a-d922-4fc8-abc1-ae8bc9eee928	g.chr8:106431375_106431376CG>AA	ENST00000407775.2	+	2	294_295	c.44_45CG>AA	c.(43-45)cCG>cAA	p.P15Q	ZFPM2_ENST00000520492.1_5'UTR	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	15					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			TTTCAAGGGCCGCTTGAAGATG	0.396																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	16700	protein-coding gene	gene with protein product		603693	"""zinc finger protein, multitype 2"""			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	Exception_encountered	8.37:g.106431375_106431376delinsAA	ENSP00000384179:p.Pro15Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation|Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P15Q|p.P15	ENST00000407775.2	37	c.44|c.45	CCDS47908.1	8																																																																																			ZFPM2	-	NULL	ENSG00000169946		0.396	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFPM2	HGNC	protein_coding	OTTHUMT00000380614.1	59|60	0.00	0	C|G			106431375|106431376	106431375|106431376	+1	no_errors	ENST00000407775	ensembl	human	known	69_37n	missense|silent	63	16.00|17.11	12|13	SNP	1.000|0.983	A
ZHX3	23051	genome.wustl.edu	37	20	39831411	39831411	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1JP-01A-11D-A13L-09	TCGA-D8-A1JP-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1e21a355-0cb6-4a43-b134-50ff88dacf92	6eeba22a-d922-4fc8-abc1-ae8bc9eee928	g.chr20:39831411T>C	ENST00000309060.3	-	4	2561	c.2146A>G	c.(2146-2148)Atc>Gtc	p.I716V	ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000432768.2_Missense_Mutation_p.I716V|ZHX3_ENST00000540170.1_Missense_Mutation_p.I716V|ZHX3_ENST00000559234.1_Missense_Mutation_p.I716V|ZHX3_ENST00000560361.1_Missense_Mutation_p.I716V|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000544979.2_Missense_Mutation_p.I716V			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	716					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of osteoblast differentiation (GO:0045669)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				TCTGCCAAGATATGGCTGCTG	0.542																																						dbGAP											0													82.0	79.0	80.0					20																	39831411		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB007855	CCDS13315.1	20q12	2012-03-09	2004-01-29	2004-01-30	ENSG00000174306	ENSG00000174306		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	15935	protein-coding gene	gene with protein product		609598	"""triple homeobox 1"""	TIX1		9455477	Standard	XM_005260343		Approved	KIAA0395	uc002xjs.1	Q9H4I2	OTTHUMG00000032481	ENST00000309060.3:c.2146A>G	20.37:g.39831411T>C	ENSP00000312222:p.Ile716Val	Somatic		WXS	Illumina GAIIx	Phase_IV	E1P5W5|F5H820|O43145|Q6NUJ7	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Homeodomain	p.I716V	ENST00000309060.3	37	c.2146	CCDS13315.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.011|0.011	-1.703482|-1.703482	0.00719|0.00719	.|.	.|.	ENSG00000174306|ENSG00000174306	ENST00000309060;ENST00000373263;ENST00000540170;ENST00000544979;ENST00000373262|ENST00000421422	T;T;T|.	0.11169|.	3.02;3.02;2.8|.	6.07|6.07	-7.54|-7.54	0.01332|0.01332	.|.	1.898720|.	0.02241|.	N|.	0.065819|.	T|T	0.17492|0.17492	0.0420|0.0420	N|N	0.24115|0.24115	0.695|0.695	0.09310|0.09310	N|N	1|1	B;B;B|.	0.02656|.	0.0;0.0;0.0|.	B;B;B|.	0.06405|.	0.0;0.0;0.002|.	T|T	0.25984|0.25984	-1.0116|-1.0116	10|5	0.27082|.	T|.	0.32|.	0.0506|0.0506	3.2862|3.2862	0.06932|0.06932	0.1615:0.3549:0.094:0.3896|0.1615:0.3549:0.094:0.3896	.|.	716;716;716|.	A8K8Q0;Q9H4I2;F5H820|.	.;ZHX3_HUMAN;.|.	V|C	716;716;716;716;494|424	ENSP00000362360:I716V;ENSP00000442290:I716V;ENSP00000443783:I716V|.	ENSP00000312222:I716V|.	I|Y	-|-	1|2	0|0	ZHX3|ZHX3	39264825|39264825	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.023000|0.023000	0.10783|0.10783	-1.633000|-1.633000	0.02022|0.02022	-1.136000|-1.136000	0.02892|0.02892	-0.250000|-0.250000	0.11733|0.11733	ATC|TAT	ZHX3	-	NULL	ENSG00000174306		0.542	ZHX3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZHX3	HGNC	protein_coding	OTTHUMT00000079262.3	100	0.00	0	T	NM_015035		39831411	39831411	-1	no_errors	ENST00000373263	ensembl	human	known	69_37n	missense	69	16.87	14	SNP	0.000	C
ZMYND15	84225	genome.wustl.edu	37	17	4648519	4648519	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JP-01A-11D-A13L-09	TCGA-D8-A1JP-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1e21a355-0cb6-4a43-b134-50ff88dacf92	6eeba22a-d922-4fc8-abc1-ae8bc9eee928	g.chr17:4648519G>C	ENST00000433935.1	+	13	1963	c.1906G>C	c.(1906-1908)Gtg>Ctg	p.V636L	ZMYND15_ENST00000269289.6_Missense_Mutation_p.V597L|ZMYND15_ENST00000573751.2_Missense_Mutation_p.V644L|ZMYND15_ENST00000592813.1_Missense_Mutation_p.V597L	NM_001136046.2|NM_001267822.1	NP_001129518.1|NP_001254751.1	Q9H091	ZMY15_HUMAN	zinc finger, MYND-type containing 15	636					negative regulation of transcription, DNA-templated (GO:0045892)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.V597M(1)		endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						GTCCCTCCGAGTGCCAGCCTT	0.657																																						dbGAP											1	Substitution - Missense(1)	prostate(1)											81.0	81.0	81.0					17																	4648519		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL136893	CCDS11053.1, CCDS45584.1, CCDS58506.1	17p13.3	2008-05-02			ENSG00000141497	ENSG00000141497		"""Zinc fingers, MYND-type"""	20997	protein-coding gene	gene with protein product		614312				11230166	Standard	NM_001136046		Approved	DKFZp434N127	uc002fyu.3	Q9H091	OTTHUMG00000090760	ENST00000433935.1:c.1906G>C	17.37:g.4648519G>C	ENSP00000391742:p.Val636Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DXY5|I3L296	Missense_Mutation	SNP	pfam_Znf_MYND,pfscan_Znf_MYND	p.V636L	ENST00000433935.1	37	c.1906	CCDS45584.1	17	.	.	.	.	.	.	.	.	.	.	G	15.94	2.980699	0.53827	.	.	ENSG00000141497	ENST00000433935;ENST00000269289	T;T	0.60299	0.42;0.2	4.7	3.72	0.42706	.	0.392944	0.18730	N	0.132761	T	0.63271	0.2497	L	0.32530	0.975	0.36567	D	0.872769	D;D	0.65815	0.995;0.994	D;D	0.72625	0.978;0.97	T	0.68420	-0.5413	10	0.56958	D	0.05	-10.5279	10.0407	0.42155	0.0:0.0:0.7987:0.2013	.	636;597	B4DXY5;Q9H091	.;ZMY15_HUMAN	L	636;597	ENSP00000391742:V636L;ENSP00000269289:V597L	ENSP00000269289:V597L	V	+	1	0	ZMYND15	4595268	1.000000	0.71417	1.000000	0.80357	0.408000	0.30992	5.551000	0.67274	1.187000	0.43000	-0.309000	0.09137	GTG	ZMYND15	-	NULL	ENSG00000141497		0.657	ZMYND15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMYND15	HGNC	protein_coding	OTTHUMT00000439580.1	19	0.00	0	G	NM_032265		4648519	4648519	+1	no_errors	ENST00000433935	ensembl	human	known	69_37n	missense	2	71.43	5	SNP	1.000	C
ZNF148	7707	genome.wustl.edu	37	3	124951438	124951438	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1JP-01A-11D-A13L-09	TCGA-D8-A1JP-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1e21a355-0cb6-4a43-b134-50ff88dacf92	6eeba22a-d922-4fc8-abc1-ae8bc9eee928	g.chr3:124951438G>A	ENST00000360647.4	-	9	2617	c.2132C>T	c.(2131-2133)tCt>tTt	p.S711F	ZNF148_ENST00000485866.1_Missense_Mutation_p.S711F|ZNF148_ENST00000492394.1_Missense_Mutation_p.S711F|ZNF148_ENST00000468369.1_Missense_Mutation_p.S61F|ZNF148_ENST00000497929.1_5'UTR|ZNF148_ENST00000544464.1_Missense_Mutation_p.S48F|SLC12A8_ENST00000423114.2_Intron|ZNF148_ENST00000484491.1_Missense_Mutation_p.S711F	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	711					cellular defense response (GO:0006968)|gamete generation (GO:0007276)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein complex assembly (GO:0006461)|substantia nigra development (GO:0021762)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						TTTCTTCTGAGAAGTCACTTG	0.473																																						dbGAP											0													137.0	127.0	130.0					3																	124951438		2203	4300	6503	-	-	-	SO:0001583	missense	0			U09851	CCDS3031.1	3q21.2	2013-01-08	2006-06-13		ENSG00000163848	ENSG00000163848		"""Zinc fingers, C2H2-type"""	12933	protein-coding gene	gene with protein product		601897	"""zinc finger protein 148 (pHZ-52)"""			7557990, 9925940	Standard	NM_021964		Approved	BERF-1, ZBP-89, BFCOL1, HT-BETA, ZFP148, pHZ-52	uc003ehx.4	Q9UQR1	OTTHUMG00000159448	ENST00000360647.4:c.2132C>T	3.37:g.124951438G>A	ENSP00000353863:p.Ser711Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DN27|O00389|O43591|Q58EY5|Q6PJ98	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S711F	ENST00000360647.4	37	c.2132	CCDS3031.1	3	.	.	.	.	.	.	.	.	.	.	G	13.83	2.352941	0.41700	.	.	ENSG00000163848	ENST00000360647;ENST00000468369;ENST00000484491;ENST00000544464;ENST00000492394;ENST00000485866	T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97;0.97	5.26	4.39	0.52855	.	0.245199	0.42172	D	0.000758	T	0.27866	0.0686	N	0.19112	0.55	0.40308	D	0.97868	B;B	0.09022	0.002;0.0	B;B	0.08055	0.003;0.0	T	0.10706	-1.0618	10	0.72032	D	0.01	-11.7826	9.7325	0.40370	0.0739:0.14:0.786:0.0	.	61;711	G5E9X2;Q9UQR1	.;ZN148_HUMAN	F	711;61;711;48;711;711	ENSP00000353863:S711F;ENSP00000420102:S61F;ENSP00000420335:S711F;ENSP00000437916:S48F;ENSP00000419322:S711F;ENSP00000420448:S711F	ENSP00000353863:S711F	S	-	2	0	ZNF148	126434128	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.311000	0.78958	1.450000	0.47717	0.591000	0.81541	TCT	ZNF148	-	NULL	ENSG00000163848		0.473	ZNF148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF148	HGNC	protein_coding	OTTHUMT00000355452.4	47	0.00	0	G	NM_021964		124951438	124951438	-1	no_errors	ENST00000360647	ensembl	human	known	69_37n	missense	37	24.49	12	SNP	1.000	A
ZNF346	23567	genome.wustl.edu	37	5	176471467	176471467	+	Missense_Mutation	SNP	G	G	C	rs199787330		TCGA-D8-A1JP-01A-11D-A13L-09	TCGA-D8-A1JP-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1e21a355-0cb6-4a43-b134-50ff88dacf92	6eeba22a-d922-4fc8-abc1-ae8bc9eee928	g.chr5:176471467G>C	ENST00000358149.3	+	4	493	c.450G>C	c.(448-450)caG>caC	p.Q150H	ZNF346_ENST00000506693.1_Intron|ZNF346_ENST00000503039.1_Missense_Mutation_p.Q175H|ZNF346_ENST00000511834.1_Missense_Mutation_p.Q150H|ZNF346_ENST00000512315.1_Intron|ZNF346_ENST00000261948.4_Missense_Mutation_p.Q175H|ZNF346_ENST00000503425.1_Missense_Mutation_p.Q118H	NM_012279.2	NP_036411.1	Q9UL40	ZN346_HUMAN	zinc finger protein 346	150					positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	14	all_cancers(89;6.3e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCGTGGCCCAGTCGCACTACC	0.512																																						dbGAP											0													170.0	153.0	159.0					5																	176471467		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF083340	CCDS4409.1	5q35.3	2012-10-05			ENSG00000113761	ENSG00000113761			16403	protein-coding gene	gene with protein product		605308				10488071	Standard	NM_012279		Approved	JAZ, Zfp346	uc003mfi.3	Q9UL40	OTTHUMG00000130848	ENST00000358149.3:c.450G>C	5.37:g.176471467G>C	ENSP00000350869:p.Gln150His	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z367|Q68CV9|Q6ZMW1	Missense_Mutation	SNP	smart_Znf_U1,smart_Znf_C2H2-like	p.Q175H	ENST00000358149.3	37	c.525	CCDS4409.1	5	.	.	.	.	.	.	.	.	.	.	G	16.69	3.191984	0.58017	.	.	ENSG00000113761	ENST00000358149;ENST00000503425;ENST00000261948;ENST00000511834;ENST00000503039	T;T;T;T;T	0.24350	1.86;1.86;1.86;1.86;1.86	5.29	4.41	0.53225	Zinc finger, C2H2-like (1);Zinc finger, U1-type (1);Zinc finger, C2H2 (1);	0.339575	0.35151	N	0.003411	T	0.44582	0.1300	M	0.72894	2.215	0.39667	D	0.970697	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.71414	0.959;0.953;0.973	T	0.44982	-0.9292	10	0.56958	D	0.05	.	7.2425	0.26104	0.1391:0.2713:0.5895:0.0	.	118;175;150	B7Z367;Q9UL40-2;Q9UL40	.;.;ZN346_HUMAN	H	150;118;175;150;175	ENSP00000350869:Q150H;ENSP00000421212:Q118H;ENSP00000261948:Q175H;ENSP00000425725:Q150H;ENSP00000424495:Q175H	ENSP00000261948:Q175H	Q	+	3	2	ZNF346	176404073	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.587000	0.46128	1.330000	0.45394	0.637000	0.83480	CAG	ZNF346	-	smart_Znf_U1,smart_Znf_C2H2-like	ENSG00000113761		0.512	ZNF346-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF346	HGNC	protein_coding	OTTHUMT00000253415.2	80	0.00	0	G	NM_012279		176471467	176471467	+1	no_errors	ENST00000261948	ensembl	human	known	69_37n	missense	33	45.90	28	SNP	1.000	C
ZSCAN12	9753	genome.wustl.edu	37	6	28359437	28359437	+	Silent	SNP	G	G	A			TCGA-D8-A1JP-01A-11D-A13L-09	TCGA-D8-A1JP-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1e21a355-0cb6-4a43-b134-50ff88dacf92	6eeba22a-d922-4fc8-abc1-ae8bc9eee928	g.chr6:28359437G>A	ENST00000361028.1	-	4	775	c.630C>T	c.(628-630)tcC>tcT	p.S210S	ZSCAN12_ENST00000396827.3_Silent_p.S210S			O43309	ZSC12_HUMAN	zinc finger and SCAN domain containing 12	210					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(3)|urinary_tract(1)	6						CAAATTTACTGGATGTCTTCC	0.388																																						dbGAP											0													54.0	41.0	45.0					6																	28359437		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0			AB007886		6p21	2013-01-08	2007-02-20	2007-02-20	ENSG00000158691	ENSG00000158691		"""-"", ""Zinc fingers, C2H2-type"""	13172	protein-coding gene	gene with protein product		603978	"""zinc finger protein 305"", ""zinc finger protein 96"""	ZNF305, ZNF96		9244436	Standard	NM_001163391		Approved	KIAA0426, ZNF29K1, ZFP96, dJ29K1.2	uc011dlh.2	O43309	OTTHUMG00000014522	ENST00000361028.1:c.630C>T	6.37:g.28359437G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O43724	Silent	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.S210	ENST00000361028.1	37	c.630		6																																																																																			ZSCAN12	-	NULL	ENSG00000158691		0.388	ZSCAN12-001	KNOWN	basic|appris_principal	protein_coding	ZSCAN12	HGNC	protein_coding	OTTHUMT00000040190.1	50	0.00	0	G	NM_014724		28359437	28359437	-1	no_errors	ENST00000361028	ensembl	human	known	69_37n	silent	35	30.00	15	SNP	0.000	A
