#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_ENSG_ID	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_Ens_Gene	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GMAF	i_HGNC	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_Normal_Alt_Count	i_Normal_Ref_Count	i_Normal_VAF	i_ORegAnno_bin	i_PurityEst	i_RNA_Tum_Ref_count	i_RNA_Tum_VAF	i_RNA_Tum_Var_count	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_Tier	i_Tumor_Alt_Count	i_Tumor_Ref_Count	i_Tumor_VAF	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_WGS_Norm_Ref_count	i_WGS_Norm_VAF	i_WGS_Norm_Var_count	i_WGS_Tum_Ref_count	i_WGS_Tum_VAF	i_WGS_Tum_Var_count	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_deletion_substructures	i_domain	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_rs_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
KCNB1	3745	genome.wustl.edu	37	20	47990159	47990159	+	Silent	SNP	G	G	A			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr20:47990159G>A	ENST00000371741.4	-	2	2104	c.1938C>T	c.(1936-1938)gcC>gcT	p.A646A		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	646					energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|dendrite membrane (GO:0032590)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Dalfampridine(DB06637)	AGTGCTGGCTGGCATCAGGGC	0.572																																																	0								ENSG00000158445						45.0	46.0	46.0					20																	47990159		2203	4300	6503	KCNB1	SO:0001819	synonymous_variant	0			-	HGNC	AF026005	CCDS13418.1	20q13.2	2012-07-05			ENSG00000158445	ENSG00000158445		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6231	protein-coding gene	gene with protein product		600397				7774931, 16382104	Standard	NM_004975		Approved	Kv2.1	uc002xur.1	Q14721	OTTHUMG00000033051	ENST00000371741.4:c.1938C>T	20.37:g.47990159G>A		Somatic	0	40	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	21	12.50	Q14193	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_K_chnl_volt-dep_Kv2,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv2.1,prints_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv8	p.A646	ENST00000371741.4	37	c.1938	CCDS13418.1	20																																																																																			-	pfam_K_chnl_volt-dep_Kv2		0.572	KCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNB1	protein_coding	OTTHUMT00000080374.3	G	NM_004975	-		47990159	-1	no_errors	ENST00000371741	ensembl	human	known	74_37	silent	SNP	0.182	A
SGK223	157285	genome.wustl.edu	37	8	8235474	8235474	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr8:8235474G>T	ENST00000520004.1	-	3	709	c.445C>A	c.(445-447)Cct>Act	p.P149T	SGK223_ENST00000330777.4_Missense_Mutation_p.P149T			Q86YV5	SG223_HUMAN		149							ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										TTGCCATCAGGGGAGGTAGAG	0.637																																					GBM(34;731 755 10259 33573 33867)												0								ENSG00000182319						67.0	72.0	71.0					8																	8235474		2008	4181	6189	SGK223	SO:0001583	missense	0			-	Uniprot_gn																												ENST00000520004.1:c.445C>A	8.37:g.8235474G>T	ENSP00000428054:p.Pro149Thr	Somatic	0	70	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	32	33.33	Q8N3N5	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom	p.P149T	ENST00000520004.1	37	c.445	CCDS43706.1	8	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.508495	0.00153	.	.	ENSG00000182319	ENST00000330777;ENST00000520004	T;T	0.54279	0.58;0.58	5.01	-8.33	0.00992	.	1.331090	0.05562	N	0.569376	T	0.18800	0.0451	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.23547	-1.0185	10	0.05721	T	0.95	.	5.5412	0.17039	0.0901:0.1047:0.2077:0.5975	.	149	Q86YV5	SG223_HUMAN	T	149	ENSP00000330930:P149T;ENSP00000428054:P149T	ENSP00000330930:P149T	P	-	1	0	AC068353.1	8272884	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-2.711000	0.00817	-1.489000	0.01844	-0.211000	0.12701	CCT	-	NULL		0.637	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGK223	protein_coding	OTTHUMT00000374864.1	G		-		8235474	-1	no_errors	ENST00000330777	ensembl	human	known	74_37	missense	SNP	0.000	T
SYNE1	23345	genome.wustl.edu	37	6	152763261	152763261	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr6:152763261G>T	ENST00000367255.5	-	31	4558	c.3957C>A	c.(3955-3957)agC>agA	p.S1319R	SYNE1_ENST00000423061.1_Missense_Mutation_p.S1326R|SYNE1_ENST00000448038.1_Missense_Mutation_p.S1326R|SYNE1_ENST00000367253.4_Missense_Mutation_p.S1319R|SYNE1_ENST00000413186.2_Missense_Mutation_p.S1319R|SYNE1_ENST00000367248.3_Missense_Mutation_p.S1309R|SYNE1_ENST00000341594.5_Missense_Mutation_p.S1385R|SYNE1_ENST00000265368.4_Missense_Mutation_p.S1319R	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1319					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CATCCAGTGTGCTCTCCAGCT	0.637										HNSCC(10;0.0054)																																							0								ENSG00000131018						73.0	71.0	72.0					6																	152763261		2203	4300	6503	SYNE1	SO:0001583	missense	0			-	HGNC	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.3957C>A	6.37:g.152763261G>T	ENSP00000356224:p.Ser1319Arg	Somatic	0	25	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	9	43.75	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.S1319R	ENST00000367255.5	37	c.3957	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	G	10.62	1.400882	0.25291	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186	T;T;T;T;T;D;D;D	0.87966	0.66;0.66;0.56;0.66;0.75;-2.25;-2.32;-2.32	5.19	0.726	0.18248	.	0.320832	0.27917	N	0.017338	T	0.60274	0.2256	L	0.40543	1.245	0.58432	D	0.999999	B;B;B;B;B;B	0.11235	0.0;0.0;0.001;0.004;0.0;0.001	B;B;B;B;B;B	0.11329	0.001;0.002;0.006;0.004;0.002;0.004	T	0.52487	-0.8569	10	0.25751	T	0.34	.	0.2626	0.00220	0.3276:0.1332:0.2335:0.3056	.	1302;1319;1309;1319;1319;1326	B3W695;Q8NF91;F5GXQ8;Q8NF91-6;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.;.	R	1319;1326;1319;1326;1385;1319;1309;1319	ENSP00000356224:S1319R;ENSP00000396024:S1326R;ENSP00000265368:S1319R;ENSP00000390975:S1326R;ENSP00000341887:S1385R;ENSP00000356222:S1319R;ENSP00000356217:S1309R;ENSP00000414510:S1319R	ENSP00000265368:S1319R	S	-	3	2	SYNE1	152804954	0.992000	0.36948	0.980000	0.43619	0.439000	0.31926	0.623000	0.24447	0.273000	0.22049	-0.143000	0.13931	AGC	-	superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom		0.637	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	protein_coding	OTTHUMT00000334755.2	G	NM_182961	-		152763261	-1	no_errors	ENST00000265368	ensembl	human	known	74_37	missense	SNP	0.774	T
TUBA3C	7278	genome.wustl.edu	37	13	19751274	19751274	+	Silent	SNP	G	G	A	rs143115179	byFrequency	TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr13:19751274G>A	ENST00000400113.3	-	4	953	c.849C>T	c.(847-849)caC>caT	p.H283H		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	283					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		ACAGCTGCTCGTGGTAGGCCT	0.607																																																	0								ENSG00000198033						143.0	128.0	133.0					13																	19751274		2203	4300	6503	TUBA3C	SO:0001819	synonymous_variant	0			-	HGNC	AF005392	CCDS9284.1	13q12.11	2007-06-20	2007-02-12	2007-02-12	ENSG00000198033	ENSG00000198033		"""Tubulins"""	12408	protein-coding gene	gene with protein product		602528	"""tubulin, alpha 2"""	TUBA2		9465305	Standard	NM_006001		Approved	bA408E5.3	uc009zzj.3	Q13748	OTTHUMG00000016481	ENST00000400113.3:c.849C>T	13.37:g.19751274G>A		Somatic	0	103	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	53	13.11	A6NJQ0|Q5W099|Q6PEY3|Q96F18	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin	p.H283	ENST00000400113.3	37	c.849	CCDS9284.1	13																																																																																			-	pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin		0.607	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	TUBA3C	protein_coding	OTTHUMT00000044007.2	G	NM_006001	rs143115179		19751274	-1	no_errors	ENST00000400113	ensembl	human	known	74_37	silent	SNP	0.998	A
SGK223	157285	genome.wustl.edu	37	8	8185770	8185770	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr8:8185770G>T	ENST00000520004.1	-	5	2786	c.2522C>A	c.(2521-2523)gCa>gAa	p.A841E	SGK223_ENST00000330777.4_Missense_Mutation_p.A841E			Q86YV5	SG223_HUMAN		843							ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										CTTGGGGCTTGCTGTTCCGGG	0.592																																					GBM(34;731 755 10259 33573 33867)												0								ENSG00000182319						127.0	139.0	135.0					8																	8185770		1980	4143	6123	SGK223	SO:0001583	missense	0			-	Uniprot_gn																												ENST00000520004.1:c.2522C>A	8.37:g.8185770G>T	ENSP00000428054:p.Ala841Glu	Somatic	0	61	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	30	31.82	Q8N3N5	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom	p.A841E	ENST00000520004.1	37	c.2522	CCDS43706.1	8	.	.	.	.	.	.	.	.	.	.	G	15.28	2.785526	0.49997	.	.	ENSG00000182319	ENST00000330777;ENST00000520004	T;T	0.63744	-0.06;-0.06	4.97	4.97	0.65823	.	0.716493	0.12721	N	0.444688	T	0.75384	0.3842	M	0.61703	1.905	0.09310	N	0.999999	D	0.71674	0.998	P	0.59115	0.852	T	0.67968	-0.5533	10	0.72032	D	0.01	.	17.7673	0.88482	0.0:0.0:1.0:0.0	.	841	Q86YV5	SG223_HUMAN	E	841	ENSP00000330930:A841E;ENSP00000428054:A841E	ENSP00000330930:A841E	A	-	2	0	AC068353.1	8223180	0.434000	0.25570	0.026000	0.17262	0.279000	0.26890	3.614000	0.54160	2.751000	0.94390	0.563000	0.77884	GCA	-	NULL		0.592	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGK223	protein_coding	OTTHUMT00000374864.1	G		-		8185770	-1	no_errors	ENST00000330777	ensembl	human	known	74_37	missense	SNP	0.038	T
PZP	5858	genome.wustl.edu	37	12	9307325	9307325	+	Missense_Mutation	SNP	C	C	T	rs577575931		TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr12:9307325C>T	ENST00000261336.2	-	29	3689	c.3661G>A	c.(3661-3663)Gct>Act	p.A1221T	PZP_ENST00000381997.2_Missense_Mutation_p.A1007T	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	1221					female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						GTGAGATAAGCGAGGAGCACA	0.577																																					Melanoma(125;1402 1695 4685 34487 38571)												0								ENSG00000126838						94.0	85.0	88.0					12																	9307325		2203	4300	6503	PZP	SO:0001583	missense	0			-	HGNC	X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.3661G>A	12.37:g.9307325C>T	ENSP00000261336:p.Ala1221Thr	Somatic	0	78	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	40	27.27	A6ND27|Q15273|Q2NKL2|Q7M4N7	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_SV_autoAg,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd	p.A1221T	ENST00000261336.2	37	c.3661	CCDS8600.1	12	.	.	.	.	.	.	.	.	.	.	C	15.83	2.950136	0.53186	.	.	ENSG00000126838	ENST00000261336;ENST00000381997	T;T	0.50548	0.74;0.74	4.15	2.2	0.27929	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);A-macroglobulin complement component (1);	0.180154	0.33916	N	0.004423	T	0.49218	0.1544	L	0.52266	1.64	0.29372	N	0.863941	D;D	0.67145	0.996;0.983	P;P	0.52881	0.712;0.585	T	0.49790	-0.8902	10	0.59425	D	0.04	.	9.1058	0.36696	0.0:0.7666:0.1483:0.0851	.	1007;1221	P20742-2;P20742	.;PZP_HUMAN	T	1221;1007	ENSP00000261336:A1221T;ENSP00000371427:A1007T	ENSP00000261336:A1221T	A	-	1	0	PZP	9198592	0.995000	0.38212	0.001000	0.08648	0.338000	0.28826	3.316000	0.51960	0.422000	0.26005	0.563000	0.77884	GCT	-	pfam_A2M_comp,superfamily_Terpenoid_cyclase/PrenylTrfase		0.577	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PZP	protein_coding	OTTHUMT00000337624.1	C	NM_002864	-		9307325	-1	no_errors	ENST00000261336	ensembl	human	known	74_37	missense	SNP	0.916	T
HFM1	164045	genome.wustl.edu	37	1	91784768	91784769	+	Splice_Site	INS	-	-	A	rs201894017		TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr1:91784768_91784769insA	ENST00000370425.3	-	25	2779		c.e25-2		HFM1_ENST00000370424.3_Splice_Site|HFM1_ENST00000294696.5_Splice_Site|HFM1_ENST00000462405.1_Splice_Site	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)						resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		CTGACAACCCTAAAAAAAAAGT	0.297																																																	0								ENSG00000162669			21,4241		1,19,2111						5.1	1.0			37	16,8220		0,16,4102	no	splice-3	HFM1	NM_001017975.3		1,35,6213	A1A1,A1R,RR		0.1943,0.4927,0.296				37,12461				HFM1	SO:0001630	splice_region_variant	0				HGNC	AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"""SEC63 domain containing 1"""	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.2681-2->T	1.37:g.91784777_91784777dupA		Somatic	0	38	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	32	8.57	B1B0B6|Q8N9Q0	Splice_Site	INS	NA	NA	NA	NA	NA	NA	-	e24-2	ENST00000370425.3	37	c.2681-3_2681-2	CCDS30769.2	1																																																																																			-	-		0.297	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HFM1	protein_coding	OTTHUMT00000316716.2	-	NM_001017975		Intron	91784769	-1	no_errors	ENST00000370425	ensembl	human	known	74_37	splice_site_ins	INS	1.000:0.968	A
ATP6V0A4	50617	genome.wustl.edu	37	7	138432198	138432198	+	Missense_Mutation	SNP	C	C	T	rs531117418		TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr7:138432198C>T	ENST00000310018.2	-	13	1574	c.1292G>A	c.(1291-1293)cGc>cAc	p.R431H	ATP6V0A4_ENST00000393054.1_Missense_Mutation_p.R431H|ATP6V0A4_ENST00000353492.4_Missense_Mutation_p.R431H	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	431					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|excretion (GO:0007588)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|regulation of pH (GO:0006885)|sensory perception of sound (GO:0007605)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						GGAGAGCAAGCGTCTCTCATT	0.458																																																	0								ENSG00000105929						113.0	97.0	102.0					7																	138432198		2203	4300	6503	ATP6V0A4	SO:0001583	missense	0			-	HGNC	AF245517	CCDS5849.1	7q34	2011-06-09	2006-01-20	2002-05-10	ENSG00000105929	ENSG00000105929		"""ATPases / V-type"""	866	protein-coding gene	gene with protein product		605239	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1B"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 4"", ""ATPase, H+ transporting, lysosomal V0 subunit A4"""	ATP6N1B, ATP6N2, RTA1C		10577919, 10973252	Standard	XM_005250393		Approved	RDRTA2, VPP2, RTADR, a4, Vph1, Stv1	uc003vuf.3	Q9HBG4	OTTHUMG00000157122	ENST00000310018.2:c.1292G>A	7.37:g.138432198C>T	ENSP00000308122:p.Arg431His	Somatic	0	46	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	48	35.14	A4D1R4|A8KA80|Q32M47	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_V-ATPase_116kDa_su	p.R431H	ENST00000310018.2	37	c.1292	CCDS5849.1	7	.	.	.	.	.	.	.	.	.	.	C	10.09	1.253671	0.22965	.	.	ENSG00000105929	ENST00000310018;ENST00000393054;ENST00000353492	D;D;D	0.86030	-2.06;-2.06;-2.06	5.19	-8.27	0.01017	.	2.005500	0.01781	N	0.031736	T	0.66790	0.2825	N	0.04297	-0.235	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.59306	-0.7479	10	0.28530	T	0.3	0.4024	10.3664	0.44026	0.0:0.1683:0.2712:0.5604	.	431	Q9HBG4	VPP4_HUMAN	H	431	ENSP00000308122:R431H;ENSP00000376774:R431H;ENSP00000253856:R431H	ENSP00000308122:R431H	R	-	2	0	ATP6V0A4	138082738	0.000000	0.05858	0.000000	0.03702	0.145000	0.21501	-1.230000	0.02942	-1.923000	0.01065	-1.036000	0.02392	CGC	-	pfam_V-ATPase_116kDa_su		0.458	ATP6V0A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP6V0A4	protein_coding	OTTHUMT00000347514.1	C	NM_020632	-		138432198	-1	no_errors	ENST00000310018	ensembl	human	known	74_37	missense	SNP	0.000	T
PRPF31	26121	genome.wustl.edu	37	19	54628083	54628083	+	Intron	SNP	C	C	A			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr19:54628083C>A	ENST00000321030.4	+	8	1204				PRPF31_ENST00000391755.1_Intron|PRPF31_ENST00000419967.1_Intron|PRPF31_ENST00000498612.1_Intron|AC012314.8_ENST00000452097.1_RNA	NM_015629.3	NP_056444.3	Q8WWY3	PRP31_HUMAN	pre-mRNA processing factor 31						mRNA splicing, via spliceosome (GO:0000398)|spliceosomal tri-snRNP complex assembly (GO:0000244)	Cajal body (GO:0015030)|MLL1 complex (GO:0071339)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|U2-type spliceosomal complex (GO:0005684)|U4 snRNP (GO:0005687)|U4/U6 x U5 tri-snRNP complex (GO:0046540)|U4atac snRNP (GO:0005690)	poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)|snRNP binding (GO:0070990)			breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)|urinary_tract(3)	12	all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CTGGAGCCTTCCGCTGTGCCC	0.672																																																	0								ENSG00000237017						26.0	26.0	26.0					19																	54628083		2203	4298	6501	AC012314.8	SO:0001627	intron_variant	0			-	Clone_based_vega_gene	AL050369	CCDS12879.1	19q13.4	2013-07-16	2013-06-10		ENSG00000105618	ENSG00000105618			15446	protein-coding gene	gene with protein product		606419	"""PRP31 pre-mRNA processing factor 31 homolog (yeast)"", ""PRP31 pre-mRNA processing factor 31 homolog (S. cerevisiae)"""	RP11		11545739	Standard	NM_015629		Approved	NY-BR-99, PRP31, hPrp31, SNRNP61	uc002qdh.2	Q8WWY3	OTTHUMG00000066040	ENST00000321030.4:c.855+48C>A	19.37:g.54628083C>A		Somatic	0	73	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	52	22.39	Q17RB4|Q8N7F9|Q9H271|Q9Y439	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000321030.4	37	NULL	CCDS12879.1	19																																																																																			-	-		0.672	PRPF31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC101928780	protein_coding	OTTHUMT00000141417.2	C		-		54628083	-1	no_errors	ENST00000452097	ensembl	human	known	74_37	rna	SNP	0.003	A
TMEM63A	9725	genome.wustl.edu	37	1	226036675	226036675	+	Silent	SNP	G	G	A			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr1:226036675G>A	ENST00000366835.3	-	22	2380	c.2110C>T	c.(2110-2112)Ctg>Ttg	p.L704L	RP11-285F7.2_ENST00000424332.1_RNA	NM_014698.2	NP_055513.2	O94886	CSCL1_HUMAN	transmembrane protein 63A	704					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	nucleotide binding (GO:0000166)			breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					GTGAGCAGCAGCACCAGGAAG	0.617																																																	0								ENSG00000196187						40.0	36.0	37.0					1																	226036675		2203	4299	6502	TMEM63A	SO:0001819	synonymous_variant	0			-	HGNC		CCDS31042.1	1q42.12	2008-02-05	2005-07-25	2005-07-25	ENSG00000196187	ENSG00000196187			29118	protein-coding gene	gene with protein product			"""KIAA0792"""	KIAA0792		9872452, 9455484	Standard	NM_014698		Approved		uc001hpm.2	O94886	OTTHUMG00000037442	ENST00000366835.3:c.2110C>T	1.37:g.226036675G>A		Somatic	0	74	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	Q53GI7|Q5TE96|Q8N2U2	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_DUF221	p.L704	ENST00000366835.3	37	c.2110	CCDS31042.1	1																																																																																			-	NULL		0.617	TMEM63A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM63A	protein_coding	OTTHUMT00000091154.2	G	NM_014698	-		226036675	-1	no_errors	ENST00000366835	ensembl	human	known	74_37	silent	SNP	0.007	A
PELO	53918	genome.wustl.edu	37	5	52096725	52096725	+	Missense_Mutation	SNP	A	A	T			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr5:52096725A>T	ENST00000274311.2	+	2	1482	c.497A>T	c.(496-498)aAc>aTc	p.N166I	PELO_ENST00000506949.1_Intron|ITGA1_ENST00000504086.1_Intron|ITGA1_ENST00000282588.6_Intron	NM_015946.4	NP_057030.3	Q9BRX2	PELO_HUMAN	pelota homolog (Drosophila)	166					cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|chromosome organization (GO:0051276)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|nuclear-transcribed mRNA catabolic process, non-stop decay (GO:0070481)|RNA surveillance (GO:0071025)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	11		Lung NSC(810;4.94e-05)|Breast(144;0.0848)				GTGGAGGTGAACATCCCTAGG	0.567																																																	0								ENSG00000152684						93.0	81.0	85.0					5																	52096725		2203	4300	6503	PELO	SO:0001583	missense	0			-	HGNC		CCDS3956.1	5q11.2	2008-07-18	2001-11-28		ENSG00000152684	ENSG00000152684			8829	protein-coding gene	gene with protein product		605757	"""pelota (Drosophila) homolog"""			11060452	Standard	NM_015946		Approved		uc003jos.3	Q9BRX2	OTTHUMG00000096973	ENST00000274311.2:c.497A>T	5.37:g.52096725A>T	ENSP00000274311:p.Asn166Ile	Somatic	0	30	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	18	25.00	Q9GZS6|Q9Y306	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_eRF1_1_Pelota,pfam_eRF1_2,pfam_eRF1_3,tigrfam_Transl_rel_pelota-like	p.N166I	ENST00000274311.2	37	c.497	CCDS3956.1	5	.	.	.	.	.	.	.	.	.	.	A	13.67	2.306019	0.40795	.	.	ENSG00000152684	ENST00000274311	T	0.45276	0.9	5.4	1.52	0.23074	eRF1 domain 2 (1);	0.122639	0.53938	U	0.000045	T	0.33118	0.0852	L	0.60845	1.875	0.39573	D	0.969307	B	0.30973	0.302	B	0.29077	0.098	T	0.11767	-1.0574	10	0.56958	D	0.05	-22.0759	4.802	0.13301	0.4958:0.2871:0.2171:0.0	.	166	Q9BRX2	PELO_HUMAN	I	166	ENSP00000274311:N166I	ENSP00000274311:N166I	N	+	2	0	PELO	52132482	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.066000	0.41452	0.110000	0.17919	0.460000	0.39030	AAC	-	pfam_eRF1_2,tigrfam_Transl_rel_pelota-like		0.567	PELO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PELO	protein_coding	OTTHUMT00000214040.1	A	NM_015946	-		52096725	+1	no_errors	ENST00000274311	ensembl	human	known	74_37	missense	SNP	1.000	T
BRD7	29117	genome.wustl.edu	37	16	50357503	50357503	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr16:50357503C>A	ENST00000394688.3	-	12	1597	c.1438G>T	c.(1438-1440)Gag>Tag	p.E480*	BRD7_ENST00000394689.2_Nonsense_Mutation_p.E480*			Q9NPI1	BRD7_HUMAN	bromodomain containing 7	480					cell cycle (GO:0007049)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2)	22		all_cancers(37;0.0127)				CTTACCATCTCCATCTCTTGT	0.393																																																	0								ENSG00000166164						157.0	129.0	139.0					16																	50357503		2198	4300	6498	BRD7	SO:0001587	stop_gained	0			-	HGNC	AF213969	CCDS10742.1, CCDS54007.1	16q12.1	2008-11-18	2002-01-14		ENSG00000166164	ENSG00000166164			14310	protein-coding gene	gene with protein product			"""bromodomain-containing 7"""			10526152, 18809673	Standard	NM_013263		Approved	CELTIX1, BP75	uc002ege.2	Q9NPI1	OTTHUMG00000133170	ENST00000394688.3:c.1438G>T	16.37:g.50357503C>A	ENSP00000378180:p.Glu480*	Somatic	0	48	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	22	42.11	Q4VC09|Q8N2L9|Q96KA4|Q9BV48|Q9UH59	Nonsense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_DUF3512,pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.E480*	ENST00000394688.3	37	c.1438	CCDS10742.1	16	.	.	.	.	.	.	.	.	.	.	C	37	6.253021	0.97417	.	.	ENSG00000166164	ENST00000394688;ENST00000394689	.	.	.	5.5	5.5	0.81552	.	0.241141	0.45867	D	0.000334	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	-30.1046	12.6985	0.57018	0.0:0.9245:0.0:0.0755	.	.	.	.	X	480	.	ENSP00000378180:E480X	E	-	1	0	BRD7	48915004	1.000000	0.71417	0.665000	0.29768	0.716000	0.41182	4.475000	0.60210	2.581000	0.87130	0.563000	0.77884	GAG	-	pfam_DUF3512		0.393	BRD7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	BRD7	protein_coding	OTTHUMT00000256874.3	C	NM_013263	-		50357503	-1	no_errors	ENST00000394689	ensembl	human	known	74_37	nonsense	SNP	0.789	A
SLC22A17	51310	genome.wustl.edu	37	14	23822003	23822003	+	5'UTR	SNP	C	C	G			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr14:23822003C>G	ENST00000397267.1	-	0	77				SLC22A17_ENST00000206544.8_5'Flank|SLC22A17_ENST00000354772.3_5'UTR|SLC22A17_ENST00000474057.1_5'UTR|SLC22A17_ENST00000397260.3_5'UTR			Q8WUG5	S22AH_HUMAN	solute carrier family 22, member 17						ion transport (GO:0006811)|iron ion homeostasis (GO:0055072)|siderophore transport (GO:0015891)	integral component of organelle membrane (GO:0031301)|integral component of plasma membrane (GO:0005887)|vacuole (GO:0005773)	transmembrane signaling receptor activity (GO:0004888)|transmembrane transporter activity (GO:0022857)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00643)		GCGCTGTCCTCTGGCTCAGTT	0.726																																																	0								ENSG00000092096																																			SLC22A17	SO:0001623	5_prime_UTR_variant	0			-	HGNC	AJ243653	CCDS9593.1, CCDS9594.2	14q11.2	2013-05-22	2008-01-11		ENSG00000092096	ENSG00000092096		"""Solute carriers"""	23095	protein-coding gene	gene with protein product	"""neutrophil gelatinase-associated lipocalin receptor"""	611461				16377569	Standard	NM_016609		Approved	BOCT, BOIT, NGALR	uc001wjl.3	Q8WUG5	OTTHUMG00000028740	ENST00000397267.1:c.-386G>C	14.37:g.23822003C>G		Somatic	0	43	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	10	62.96	A4UA13|A8MUT0|Q2TAB0|Q5BKY8|Q86U04|Q9H1D3|Q9NQD5	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000397267.1	37	NULL	CCDS9593.1	14																																																																																			-	-		0.726	SLC22A17-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC22A17	protein_coding		C	NM_020372	-		23822003	-1	no_errors	ENST00000474057	ensembl	human	known	74_37	rna	SNP	0.003	G
MAVS	57506	genome.wustl.edu	37	20	3842927	3842927	+	Silent	SNP	C	C	A	rs201271837		TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr20:3842927C>A	ENST00000428216.2	+	5	620	c.492C>A	c.(490-492)ctC>ctA	p.L164L	MAVS_ENST00000416600.2_Silent_p.L23L|MAVS_ENST00000358134.6_Missense_Mutation_p.Q107K	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN	mitochondrial antiviral signaling protein	164					activation of innate immune response (GO:0002218)|cellular response to exogenous dsRNA (GO:0071360)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|negative regulation of viral genome replication (GO:0045071)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of IP-10 production (GO:0071660)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of peroxisome organization (GO:1900063)|RIG-I signaling pathway (GO:0039529)|signal transduction (GO:0007165)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)	CARD domain binding (GO:0050700)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						TGCAGACGCTCAGCCCCAGAG	0.587																																																	0								ENSG00000088888						50.0	52.0	51.0					20																	3842927		2203	4300	6503	MAVS	SO:0001819	synonymous_variant	0			-	HGNC	DQ174270	CCDS33437.1, CCDS56176.1	20p13	2009-04-02			ENSG00000088888	ENSG00000088888			29233	protein-coding gene	gene with protein product	"""virus-induced signaling adaptor"", ""IFN-B promoter stimulator 1"", ""CARD adaptor inducing IFN-beta"""	609676				16125763, 16153868	Standard	NM_020746		Approved	VISA, KIAA1271, IPS-1, Cardif	uc002wjw.4	Q7Z434	OTTHUMG00000031765	ENST00000428216.2:c.492C>A	20.37:g.3842927C>A		Somatic	0	34	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	19	13.64	A8K6X0|B2BD33|B2BD34|F5H6C8|Q2HWT5|Q3I0Y2|Q5T7I6|Q86VY7|Q9H1H3|Q9H4Y1|Q9H8D3|Q9ULE9	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.Q107K	ENST00000428216.2	37	c.319	CCDS33437.1	20	.	.	.	.	.	.	.	.	.	.	C	5.491	0.275554	0.10403	.	.	ENSG00000088888	ENST00000358134	T	0.10477	2.87	4.16	2.25	0.28309	.	.	.	.	.	T	0.09686	0.0238	.	.	.	0.09310	N	1	D	0.54207	0.965	P	0.50970	0.655	T	0.13150	-1.0520	8	0.09843	T	0.71	-0.8656	6.6742	0.23085	0.0:0.7878:0.0:0.2122	.	107	B2BD34	.	K	107	ENSP00000350852:Q107K	ENSP00000350852:Q107K	Q	+	1	0	MAVS	3790927	0.007000	0.16637	0.001000	0.08648	0.000000	0.00434	1.032000	0.30178	0.717000	0.32145	-0.126000	0.14955	CAG	-	NULL		0.587	MAVS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAVS	protein_coding	OTTHUMT00000077784.3	C	NM_020746	-		3842927	+1	no_errors	ENST00000358134	ensembl	human	known	74_37	missense	SNP	0.001	A
IFITM1	8519	genome.wustl.edu	37	11	314332	314332	+	Silent	SNP	C	C	T			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr11:314332C>T	ENST00000408968.3	+	1	480	c.162C>T	c.(160-162)ttC>ttT	p.F54F	IFITM1_ENST00000528780.1_Silent_p.F54F|IFITM1_ENST00000328221.5_Silent_p.F54F	NM_003641.3	NP_003632	P13164	IFM1_HUMAN	interferon induced transmembrane protein 1	54					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|intracellular signal transduction (GO:0035556)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral genome replication (GO:0045071)|ossification (GO:0001503)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of immune response (GO:0050776)|response to interferon-alpha (GO:0035455)|response to interferon-beta (GO:0035456)|response to interferon-gamma (GO:0034341)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor signaling protein activity (GO:0005057)			large_intestine(1)|lung(3)	4		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;8.85e-28)|Epithelial(43;5.52e-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)		GTCTGGGCTTCATAGCATTCG	0.617																																																	0								ENSG00000185885						131.0	136.0	134.0					11																	314332		2063	4206	6269	IFITM1	SO:0001819	synonymous_variant	0			-	HGNC	J04164	CCDS41584.1	11p15.5	2012-03-15	2012-03-13		ENSG00000185885	ENSG00000185885		"""CD molecules"""	5412	protein-coding gene	gene with protein product	"""interferon-induced transmembrane protein 1"""	604456	"""interferon induced transmembrane protein 1 (9-27)"""	IFI17		7559564	Standard	NM_003641		Approved	9-27, CD225	uc001loy.4	P13164		ENST00000408968.3:c.162C>T	11.37:g.314332C>T		Somatic	0	55	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	52	26.76	Q15322|Q53XZ0	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_CD225/Dispanin_fam	p.F54	ENST00000408968.3	37	c.162	CCDS41584.1	11																																																																																			-	pfam_CD225/Dispanin_fam		0.617	IFITM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFITM1	protein_coding	OTTHUMT00000383595.1	C	NM_003641	-		314332	+1	no_errors	ENST00000328221	ensembl	human	known	74_37	silent	SNP	0.997	T
ZNF733P	643955	genome.wustl.edu	37	7	62752861	62752861	+	RNA	SNP	G	G	A			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr7:62752861G>A	ENST00000331425.6	-	0	574					NR_003952.1				zinc finger protein 733, pseudogene																		ACCTGATGTTGATTTAGGTGT	0.313																																																	0								ENSG00000185037																																			ZNF733P			0			-	HGNC			7q11.21	2012-04-20	2012-04-20	2012-04-20	ENSG00000185037	ENSG00000185037			32473	pseudogene	pseudogene			"""zinc finger protein 733"""	ZNF733			Standard	NR_003952		Approved		uc011kdj.2		OTTHUMG00000156270		7.37:g.62752861G>A		Somatic	0	43	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	48	20.00		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000331425.6	37	NULL		7																																																																																			-	-		0.313	ZNF733P-002	KNOWN	basic	processed_transcript	ZNF733P	pseudogene	OTTHUMT00000343679.1	G		-		62752861	-1	no_errors	ENST00000331425	ensembl	human	known	74_37	rna	SNP	0.000	A
DIEXF	27042	genome.wustl.edu	37	1	210012423	210012423	+	Missense_Mutation	SNP	A	A	G			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr1:210012423A>G	ENST00000491415.2	+	7	1289	c.1232A>G	c.(1231-1233)gAg>gGg	p.E411G		NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN	digestive organ expansion factor homolog (zebrafish)	411					multicellular organismal development (GO:0007275)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						AAGAGGCCTGAGGATTATGAA	0.428																																																	0								ENSG00000117597						122.0	119.0	120.0					1																	210012423		2203	4300	6503	DIEXF	SO:0001583	missense	0			-	HGNC	BC022964	CCDS1493.1	1q32.2	2011-08-12	2011-02-16	2011-02-16	ENSG00000117597	ENSG00000117597			28440	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 107"""	C1orf107		16322560	Standard	NM_014388		Approved	MGC29875, DEF, UTP25	uc001hhr.2	Q68CQ4	OTTHUMG00000036654	ENST00000491415.2:c.1232A>G	1.37:g.210012423A>G	ENSP00000419005:p.Glu411Gly	Somatic	0	32	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	31	11.43	O75992|Q4VY00|Q63HL9	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Digest_organ_expansion_fac-prd,superfamily_P-loop_NTPase	p.E411G	ENST00000491415.2	37	c.1232	CCDS1493.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	29.8|29.8	5.036278|5.036278	0.93630|0.93630	.|.	.|.	ENSG00000117597|ENSG00000117597	ENST00000491415|ENST00000457820	T|.	0.40756|.	1.02|.	5.95|5.95	5.95|5.95	0.96441|0.96441	.|.	0.044068|.	0.85682|.	D|.	0.000000|.	T|T	0.75583|0.75583	0.3869|0.3869	M|M	0.74546|0.74546	2.27|2.27	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.71870|.	0.975|.	T|T	0.75575|0.75575	-0.3270|-0.3270	9|5	.|.	.|.	.|.	-31.7869|-31.7869	16.4237|16.4237	0.83790|0.83790	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	411|.	Q68CQ4|.	DIEXF_HUMAN|.	G|G	411|92	ENSP00000419005:E411G|.	.|.	E|R	+|+	2|1	0|2	DIEXF|DIEXF	208079046|208079046	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	9.125000|9.125000	0.94402|0.94402	2.279000|2.279000	0.76181|0.76181	0.533000|0.533000	0.62120|0.62120	GAG|AGG	-	pfam_Digest_organ_expansion_fac-prd,superfamily_P-loop_NTPase		0.428	DIEXF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DIEXF	protein_coding	OTTHUMT00000089127.2	A	NM_014388	-		210012423	+1	no_errors	ENST00000491415	ensembl	human	known	74_37	missense	SNP	1.000	G
MLIP	90523	genome.wustl.edu	37	6	54003038	54003038	+	Intron	SNP	C	C	A			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr6:54003038C>A	ENST00000274897.5	+	4	725				MLIP_ENST00000370877.2_Intron|MLIP_ENST00000514921.1_Missense_Mutation_p.P713H|MLIP_ENST00000358276.5_Intron|MLIP_ENST00000370876.2_Intron|MLIP_ENST00000509997.1_Intron|MLIP_ENST00000502396.1_Missense_Mutation_p.P724H|MLIP_ENST00000511744.1_3'UTR	NM_138569.2	NP_612636.2	Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein							nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|PML body (GO:0016605)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						CTGATTTCACCTTGTGCATTG	0.433																																																	0								ENSG00000146147																																			MLIP	SO:0001627	intron_variant	0			-	HGNC	AK055530	CCDS4954.1, CCDS64448.1, CCDS64449.1	6p12.2-p12.1	2011-04-29	2011-04-29	2011-04-29	ENSG00000146147	ENSG00000146147			21355	protein-coding gene	gene with protein product	"""muscle-enriched A-type lamin interacting protein"""	614106	"""chromosome 6 open reading frame 142"""	C6orf142		21498514	Standard	NM_138569		Approved	MGC18257	uc011dxa.2	Q5VWP3	OTTHUMG00000014891	ENST00000274897.5:c.613-10816C>A	6.37:g.54003038C>A		Somatic	0	35	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	17	15.00	B7Z2N0|D6RE05|Q96H08|Q96NF7	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.P724H	ENST00000274897.5	37	c.2171	CCDS4954.1	6	.	.	.	.	.	.	.	.	.	.	C	15.65	2.895234	0.52121	.	.	ENSG00000146147	ENST00000514921;ENST00000502396	T;T	0.24908	1.83;1.84	5.36	3.57	0.40892	.	.	.	.	.	T	0.36276	0.0961	.	.	.	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.76071	0.987;0.987;0.987	T	0.26608	-1.0098	8	0.66056	D	0.02	.	9.0455	0.36345	0.0:0.8304:0.0:0.1696	.	724;724;713	Q5VWP3-3;B7ZA42;D6RE05	.;.;.	H	713;724	ENSP00000425142:P713H;ENSP00000426290:P724H	ENSP00000426290:P724H	P	+	2	0	MLIP	54110997	0.992000	0.36948	0.982000	0.44146	0.970000	0.65996	3.454000	0.52986	1.253000	0.44018	0.655000	0.94253	CCT	-	NULL		0.433	MLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLIP	protein_coding	OTTHUMT00000040979.3	C	NM_138569	-		54003038	+1	no_errors	ENST00000502396	ensembl	human	putative	74_37	missense	SNP	0.951	A
USH2A	7399	genome.wustl.edu	37	1	216011349	216011349	+	Missense_Mutation	SNP	G	G	A	rs576236830		TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr1:216011349G>A	ENST00000307340.3	-	47	9741	c.9355C>T	c.(9355-9357)Cgt>Tgt	p.R3119C	USH2A_ENST00000366943.2_Missense_Mutation_p.R3119C	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3119	Fibronectin type-III 18. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GTGATGCCACGAATTGTGGGT	0.398										HNSCC(13;0.011)			G|||	1	0.000199681	0.0	0.0	5008	,	,		16748	0.0		0.0	False		,,,				2504	0.001																0								ENSG00000042781						227.0	204.0	212.0					1																	216011349		2203	4300	6503	USH2A	SO:0001583	missense	0			-	HGNC	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.9355C>T	1.37:g.216011349G>A	ENSP00000305941:p.Arg3119Cys	Somatic	0	37	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	9	68.97	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.R3119C	ENST00000307340.3	37	c.9355	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	G	13.17	2.157195	0.38119	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.54479	0.57;0.57	5.01	4.09	0.47781	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.301359	0.23330	N	0.049349	T	0.47857	0.1468	L	0.40543	1.245	0.09310	N	0.99999	D	0.62365	0.991	B	0.44315	0.446	T	0.43893	-0.9363	10	0.52906	T	0.07	.	15.0901	0.72185	0.0:0.1426:0.8574:0.0	.	3119	O75445	USH2A_HUMAN	C	3119	ENSP00000305941:R3119C;ENSP00000355910:R3119C	ENSP00000305941:R3119C	R	-	1	0	USH2A	214077972	0.981000	0.34729	0.009000	0.14445	0.035000	0.12851	4.755000	0.62198	1.089000	0.41292	0.655000	0.94253	CGT	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3		0.398	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	protein_coding	OTTHUMT00000128138.1	G	NM_007123	-		216011349	-1	no_errors	ENST00000366943	ensembl	human	known	74_37	missense	SNP	0.128	A
PIKFYVE	200576	genome.wustl.edu	37	2	209218636	209218636	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr2:209218636G>T	ENST00000264380.4	+	40	6017	c.5859G>T	c.(5857-5859)aaG>aaT	p.K1953N		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1953	Catalytic.|PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				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						TTGATTTGAAGGGCTCTCTTA	0.358																																																	0								ENSG00000115020						76.0	78.0	77.0					2																	209218636		2203	4300	6503	PIKFYVE	SO:0001583	missense	0			-	HGNC	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.5859G>T	2.37:g.209218636G>T	ENSP00000264380:p.Lys1953Asn	Somatic	0	45	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_PInositol-4-P-5-kinase_core,pfam_Cpn60/TCP-1,pfam_DEP_dom,pfam_Znf_FYVE,superfamily_GroEL-like_apical_dom,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.K1953N	ENST00000264380.4	37	c.5859	CCDS2382.1	2	.	.	.	.	.	.	.	.	.	.	G	18.19	3.569695	0.65765	.	.	ENSG00000115020	ENST00000264380	D	0.85171	-1.95	6.17	3.45	0.39498	Phosphatidylinositol-4-phosphate 5-kinase, core (2);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	0.000000	0.85682	D	0.000000	D	0.94453	0.8215	H	0.97365	3.99	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.93932	0.7215	10	0.87932	D	0	-24.3217	10.4689	0.44624	0.2562:0.0:0.7438:0.0	.	1953	Q9Y2I7	FYV1_HUMAN	N	1953	ENSP00000264380:K1953N	ENSP00000264380:K1953N	K	+	3	2	PIKFYVE	208926881	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.717000	0.37991	0.500000	0.27991	-0.119000	0.15052	AAG	-	pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub		0.358	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIKFYVE	protein_coding	OTTHUMT00000256477.2	G	NM_015040	-		209218636	+1	no_errors	ENST00000264380	ensembl	human	known	74_37	missense	SNP	1.000	T
HTR1D	3352	genome.wustl.edu	37	1	23520075	23520075	+	Missense_Mutation	SNP	A	A	T			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr1:23520075A>T	ENST00000374619.1	-	1	1147	c.638T>A	c.(637-639)cTc>cAc	p.L213H	HTR1D_ENST00000314113.3_Missense_Mutation_p.L213H	NM_000864.4	NP_000855.1	P28221	5HT1D_HUMAN	5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled	213					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|intestine smooth muscle contraction (GO:0014827)|regulation of behavior (GO:0050795)|regulation of locomotion (GO:0040012)|response to toxic substance (GO:0009636)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Amitriptyline(DB00321)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Clozapine(DB00363)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Naratriptan(DB00952)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Risperidone(DB00734)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Sumatriptan(DB00669)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	TAGGATGATGAGCAACACCGA	0.572																																																	0								ENSG00000179546						63.0	67.0	66.0					1																	23520075		2203	4300	6503	HTR1D	SO:0001583	missense	0			-	HGNC	M89955	CCDS231.1	1p36.3-p34.3	2012-08-08	2012-02-03		ENSG00000179546	ENSG00000179546		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5289	protein-coding gene	gene with protein product		182133	"""5-hydroxytryptamine (serotonin) receptor 1D"""	HTRL		2541503, 1662665	Standard	NM_000864		Approved	RDC4, HT1DA, 5-HT1D	uc001bgn.3	P28221	OTTHUMG00000003235	ENST00000374619.1:c.638T>A	1.37:g.23520075A>T	ENSP00000363748:p.Leu213His	Somatic	0	26	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	12	50.00		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_5HT1D_rcpt,prints_5HT_rcpt	p.L213H	ENST00000374619.1	37	c.638	CCDS231.1	1	.	.	.	.	.	.	.	.	.	.	A	19.01	3.743903	0.69418	.	.	ENSG00000179546	ENST00000314113;ENST00000374619	T;T	0.40476	1.03;1.03	5.57	5.57	0.84162	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.70037	0.3178	M	0.88241	2.94	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.76809	-0.2822	10	0.87932	D	0	.	14.9212	0.70838	1.0:0.0:0.0:0.0	.	213	P28221	5HT1D_HUMAN	H	213	ENSP00000313661:L213H;ENSP00000363748:L213H	ENSP00000313661:L213H	L	-	2	0	HTR1D	23392662	1.000000	0.71417	1.000000	0.80357	0.689000	0.40095	9.339000	0.96797	2.133000	0.65898	0.533000	0.62120	CTC	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.572	HTR1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR1D	protein_coding	OTTHUMT00000008924.1	A	NM_000864	-		23520075	-1	no_errors	ENST00000314113	ensembl	human	known	74_37	missense	SNP	1.000	T
PLA2G4F	255189	genome.wustl.edu	37	15	42448730	42448730	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr15:42448730C>T	ENST00000382396.4	-	1	104	c.18G>A	c.(16-18)tgG>tgA	p.W6*	PLA2G4F_ENST00000397272.3_Nonsense_Mutation_p.W6*			Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	6					arachidonic acid secretion (GO:0050482)|cellular response to antibiotic (GO:0071236)|cellular response to organic cyclic compound (GO:0071407)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	calcium-dependent phospholipase A2 activity (GO:0047498)|lysophospholipase activity (GO:0004622)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		GCCACCTTGGCCAGAGTGCCC	0.647																																																	0								ENSG00000168907						15.0	14.0	14.0					15																	42448730		2178	4216	6394	PLA2G4F	SO:0001587	stop_gained	0			-	HGNC		CCDS32204.1	15q15.1	2008-09-19				ENSG00000168907	3.1.1.4		27396	protein-coding gene	gene with protein product						14702039, 15866882	Standard	NM_213600		Approved	PLA2G4F/Z	uc001zoz.3	Q68DD2		ENST00000382396.4:c.18G>A	15.37:g.42448730C>T	ENSP00000371833:p.Trp6*	Somatic	0	43	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	26	13.33	Q6ZMC8	Nonsense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_LysoPLipase_cat_dom,pfam_C2_dom,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_dom,smart_C2_dom,smart_LysoPLipase_cat_dom,pfscan_C2_dom,pfscan_LysoPLipase_cat_dom	p.W6*	ENST00000382396.4	37	c.18	CCDS32204.1	15	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.501811|5.501811	0.96371|0.96371	.|.	.|.	ENSG00000168907|ENSG00000168907	ENST00000290497|ENST00000397272;ENST00000382396;ENST00000357924;ENST00000443825	.|.	.|.	.|.	5.41|5.41	5.41|5.41	0.78517|0.78517	.|.	.|0.687962	.|0.12872	.|N	.|0.432161	T|.	0.67192|.	0.2867|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.66160|.	-0.5993|.	4|.	0.31617|0.32370	T|T	0.26|0.25	-4.5449|-4.5449	17.3394|17.3394	0.87291|0.87291	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	T|X	27|6	.|.	ENSP00000290497:A27T|ENSP00000350604:W6X	A|W	-|-	1|3	0|0	PLA2G4F|PLA2G4F	40236022|40236022	0.998000|0.998000	0.40836|0.40836	0.745000|0.745000	0.31077|0.31077	0.977000|0.977000	0.68977|0.68977	4.087000|4.087000	0.57671|0.57671	2.708000|2.708000	0.92522|0.92522	0.655000|0.655000	0.94253|0.94253	GCC|TGG	-	NULL		0.647	PLA2G4F-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLA2G4F	protein_coding	OTTHUMT00000420463.1	C	NM_213600	-		42448730	-1	no_errors	ENST00000397272	ensembl	human	known	74_37	nonsense	SNP	0.933	T
CECR2	27443	genome.wustl.edu	37	22	18022400	18022400	+	Silent	SNP	G	G	A			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr22:18022400G>A	ENST00000400585.2	+	16	2517	c.2079G>A	c.(2077-2079)gtG>gtA	p.V693V	CECR2_ENST00000400573.5_Silent_p.V834V|CECR2_ENST00000262608.8_Silent_p.V835V			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	876					apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		CACCTCCAGTGCCAGCACCCA	0.592																																																	0								ENSG00000099954						49.0	55.0	53.0					22																	18022400		2065	4188	6253	CECR2	SO:0001819	synonymous_variant	0			-	HGNC	AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.2079G>A	22.37:g.18022400G>A		Somatic	0	56	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	23	54.72	A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.V834	ENST00000400585.2	37	c.2502		22																																																																																			-	NULL		0.592	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	CECR2	protein_coding	OTTHUMT00000316226.2	G	NM_031413	-		18022400	+1	no_errors	ENST00000400573	ensembl	human	novel	74_37	silent	SNP	0.274	A
ACBD6	84320	genome.wustl.edu	37	1	180257470	180257470	+	3'UTR	SNP	T	T	C			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr1:180257470T>C	ENST00000367595.3	-	0	1564				ACBD6_ENST00000475338.2_5'UTR	NM_032360.3	NP_115736.1	Q9BR61	ACBD6_HUMAN	acyl-CoA binding domain containing 6							cytoplasm (GO:0005737)	fatty-acyl-CoA binding (GO:0000062)|lipid binding (GO:0008289)		ACBD6/RRP15(2)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)	7						CTTATGCTATTACAGACTGCA	0.418																																																	0								ENSG00000135847						42.0	43.0	43.0					1																	180257470		2203	4300	6503	ACBD6	SO:0001624	3_prime_UTR_variant	0			-	HGNC	BC006505	CCDS1339.1	1q25.1	2013-10-11	2010-04-30		ENSG00000135847			"""Ankyrin repeat domain containing"""	23339	protein-coding gene	gene with protein product			"""acyl-Coenzyme A binding domain containing 6"""			18268358	Standard	NM_032360		Approved	MGC2404	uc001gog.3	Q9BR61	OTTHUMG00000035117	ENST00000367595.3:c.*28A>G	1.37:g.180257470T>C		Somatic	0	42	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	9	75.00		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000367595.3	37	NULL	CCDS1339.1	1																																																																																			-	-		0.418	ACBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACBD6	protein_coding	OTTHUMT00000084998.1	T	NM_032360	-		180257470	-1	no_errors	ENST00000475338	ensembl	human	known	74_37	rna	SNP	0.000	C
PLXDC1	57125	genome.wustl.edu	37	17	37224076	37224076	+	3'UTR	SNP	G	G	T			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr17:37224076G>T	ENST00000315392.4	-	0	1731				PLXDC1_ENST00000493200.1_5'UTR|CTD-2206N4.4_ENST00000583447.1_RNA|PLXDC1_ENST00000539608.1_3'UTR|PLXDC1_ENST00000444911.2_3'UTR	NM_020405.4	NP_065138.2	Q8IUK5	PLDX1_HUMAN	plexin domain containing 1						angiogenesis (GO:0001525)|spinal cord development (GO:0021510)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|tight junction (GO:0005923)	receptor activity (GO:0004872)			kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						AGTCTTCAAAGGGGAGACTTG	0.547																																																	0								ENSG00000161381						100.0	90.0	94.0					17																	37224076		2203	4300	6503	PLXDC1	SO:0001624	3_prime_UTR_variant	0			-	HGNC	AF279144	CCDS11333.1	17q21.1	2006-04-12			ENSG00000161381	ENSG00000161381			20945	protein-coding gene	gene with protein product	"""tumor endothelial marker 7 precursor"""	606826				10947988, 11559528	Standard	NM_020405		Approved	TEM3, TEM7	uc002hrg.2	Q8IUK5	OTTHUMG00000133183	ENST00000315392.4:c.*17C>A	17.37:g.37224076G>T		Somatic	0	33	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	19	13.64	B2R7I8|Q5QCZ7|Q5QCZ8|Q5QCZ9|Q9HCT9	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000315392.4	37	NULL	CCDS11333.1	17																																																																																			-	-		0.547	PLXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXDC1	protein_coding	OTTHUMT00000256892.2	G	NM_020405	-		37224076	-1	no_errors	ENST00000493200	ensembl	human	known	74_37	rna	SNP	0.000	T
IL20RA	53832	genome.wustl.edu	37	6	137323068	137323068	+	Missense_Mutation	SNP	G	G	T	rs377051637		TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr6:137323068G>T	ENST00000316649.5	-	7	1524	c.1289C>A	c.(1288-1290)aCa>aAa	p.T430K	IL20RA_ENST00000541547.1_Missense_Mutation_p.T381K|IL20RA_ENST00000468393.1_5'Flank|RP11-204P2.3_ENST00000458017.1_RNA|IL20RA_ENST00000367748.1_Missense_Mutation_p.T319K	NM_001278722.1|NM_014432.2	NP_001265651.1|NP_055247	Q9UHF4	I20RA_HUMAN	interleukin 20 receptor, alpha	430					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of bone resorption (GO:0045124)	integral component of membrane (GO:0016021)				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)		CTCCAATAATGTTCCTTGTGT	0.527																																																	0								ENSG00000016402						71.0	59.0	63.0					6																	137323068		2203	4300	6503	IL20RA	SO:0001583	missense	0			-	HGNC	AF184971	CCDS5181.1, CCDS64535.1, CCDS64536.1	6q23.3	2008-02-05			ENSG00000016402	ENSG00000016402		"""Interleukins and interleukin receptors"""	6003	protein-coding gene	gene with protein product		605620				10875937, 11163236	Standard	NM_001278724		Approved	ZCYTOR7, IL-20R1	uc003qhj.3	Q9UHF4	OTTHUMG00000015654	ENST00000316649.5:c.1289C>A	6.37:g.137323068G>T	ENSP00000314976:p.Thr430Lys	Somatic	0	49	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	23	37.84	B4DLR5|F5H675|Q14CW2|Q6UWA9|Q96SH8	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3	p.T430K	ENST00000316649.5	37	c.1289	CCDS5181.1	6	.	.	.	.	.	.	.	.	.	.	G	2.094	-0.407652	0.04832	.	.	ENSG00000016402	ENST00000316649;ENST00000367748;ENST00000541547	T;T;T	0.58358	0.61;2.05;0.34	5.96	-7.76	0.01232	.	4.960380	0.00166	N	0.000019	T	0.03220	0.0094	N	0.00841	-1.15	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.05419	-1.0886	10	0.02654	T	1	2.2846	2.0444	0.03557	0.1925:0.1846:0.4027:0.2202	.	319;430	Q9UHF4-2;Q9UHF4	.;I20RA_HUMAN	K	430;319;381	ENSP00000314976:T430K;ENSP00000356722:T319K;ENSP00000437843:T381K	ENSP00000314976:T430K	T	-	2	0	IL20RA	137364761	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.841000	0.04359	-1.708000	0.01401	-0.839000	0.03059	ACA	-	NULL		0.527	IL20RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL20RA	protein_coding	OTTHUMT00000042393.1	G	NM_014432	-		137323068	-1	no_errors	ENST00000316649	ensembl	human	known	74_37	missense	SNP	0.000	T
GPR37	2861	genome.wustl.edu	37	7	124386687	124386687	+	Silent	SNP	C	C	A			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr7:124386687C>A	ENST00000303921.2	-	2	2384	c.1734G>T	c.(1732-1734)gtG>gtT	p.V578V		NM_005302.3	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	578					dopamine biosynthetic process (GO:0042416)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotion involved in locomotory behavior (GO:0031987)|positive regulation of dopamine metabolic process (GO:0045964)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ubiquitin ligase complex (GO:0000151)	G-protein coupled receptor activity (GO:0004930)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CATCACTGGTCACCGTTGAAG	0.512																																																	0								ENSG00000170775						164.0	137.0	146.0					7																	124386687		2203	4300	6503	GPR37	SO:0001819	synonymous_variant	0			-	HGNC		CCDS5792.1	7q31	2012-08-21			ENSG00000170775	ENSG00000170775		"""GPCR / Class A : Orphans"""	4494	protein-coding gene	gene with protein product		602583				9339362	Standard	NM_005302		Approved	EDNRBL, hET(B)R-LP, PAELR	uc003vli.4	O15354	OTTHUMG00000157197	ENST00000303921.2:c.1734G>T	7.37:g.124386687C>A		Somatic	0	54	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	22	48.84	A4D0Y6|O00348|O14768|Q8TD39	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR37_orph,prints_GPCR_Rhodpsn	p.V578	ENST00000303921.2	37	c.1734	CCDS5792.1	7																																																																																			-	NULL		0.512	GPR37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR37	protein_coding	OTTHUMT00000347873.1	C	NM_005302	-		124386687	-1	no_errors	ENST00000303921	ensembl	human	known	74_37	silent	SNP	0.999	A
POLR1A	25885	genome.wustl.edu	37	2	86315922	86315922	+	Silent	SNP	G	G	T			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr2:86315922G>T	ENST00000263857.6	-	5	990	c.612C>A	c.(610-612)cgC>cgA	p.R204R	POLR1A_ENST00000409681.1_Silent_p.R204R			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	204					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						AGTGGGGACAGCGCTTAGCAT	0.443																																																	0								ENSG00000068654						127.0	131.0	130.0					2																	86315922		2020	4171	6191	POLR1A	SO:0001819	synonymous_variant	0			-	HGNC	AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"""RNA polymerase subunits"""	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.612C>A	2.37:g.86315922G>T		Somatic	0	18	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	13	23.53	B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_Rpb1_1,smart_RNA_pol_N	p.R204	ENST00000263857.6	37	c.612	CCDS42706.1	2																																																																																			-	pfam_RNA_pol_Rpb1_1		0.443	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR1A	protein_coding	OTTHUMT00000329830.2	G	NM_015425	-		86315922	-1	no_errors	ENST00000263857	ensembl	human	known	74_37	silent	SNP	0.733	T
CPAMD8	27151	genome.wustl.edu	37	19	17086902	17086902	+	Silent	SNP	G	G	T			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr19:17086902G>T	ENST00000443236.1	-	16	1990	c.1959C>A	c.(1957-1959)atC>atA	p.I653I	CPAMD8_ENST00000388925.4_Intron	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	606						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						TTGCAGCCCTGATCCGCAGGT	0.562																																																	0								ENSG00000160111						43.0	48.0	46.0					19																	17086902		2066	4208	6274	CPAMD8	SO:0001819	synonymous_variant	0			-	HGNC	AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.1959C>A	19.37:g.17086902G>T		Somatic	0	26	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	32	23.81	Q8NC09|Q9ULD7	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_A2M_comp,pfam_A2M_N_2,pfam_Methyltransf_FA,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Kazal_dom,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,smart_Kazal_dom	p.I653	ENST00000443236.1	37	c.1959	CCDS42519.1	19	.	.	.	.	.	.	.	.	.	.	G	0.025	-1.382630	0.01204	.	.	ENSG00000160111	ENST00000443236	.	.	.	2.85	-1.56	0.08532	.	.	.	.	.	.	.	.	.	.	.	0.32411	N	0.550648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.3979	0.02264	0.2011:0.3015:0.3409:0.1565	.	.	.	.	X	664	.	.	S	-	2	0	CPAMD8	16947902	0.300000	0.24435	0.037000	0.18230	0.010000	0.07245	0.006000	0.13152	-0.043000	0.13513	-0.323000	0.08544	TCA	-	pfam_A2M_N_2		0.562	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPAMD8	protein_coding	OTTHUMT00000257531.2	G	NM_015692	-		17086902	-1	no_errors	ENST00000443236	ensembl	human	known	74_37	silent	SNP	0.097	T
CEP128	145508	genome.wustl.edu	37	14	81372338	81372338	+	Missense_Mutation	SNP	T	T	C			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr14:81372338T>C	ENST00000555265.1	-	5	697	c.322A>G	c.(322-324)Agt>Ggt	p.S108G	CEP128_ENST00000216517.6_Missense_Mutation_p.S108G|CEP128_ENST00000327841.2_Missense_Mutation_p.S48G|CEP128_ENST00000281129.3_Missense_Mutation_p.S108G			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	108						centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)		p.S108C(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						GCACTCAAACTTGTAACAGAA	0.348																																																	1	Substitution - Missense(1)	NS(1)						ENSG00000100629						77.0	74.0	75.0					14																	81372338		2203	4300	6503	CEP128	SO:0001583	missense	0			-	HGNC	AK056756	CCDS32130.1	14q31.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000100629	ENSG00000100629			20359	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 61"", ""chromosome 14 open reading frame 145"""	C14orf61, C14orf145		21399614	Standard	NM_152446		Approved		uc001xux.2	Q6ZU80		ENST00000555265.1:c.322A>G	14.37:g.81372338T>C	ENSP00000451162:p.Ser108Gly	Somatic	0	33	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	28	12.50	B9EK52|Q86X97|Q96ML4	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.S108G	ENST00000555265.1	37	c.322	CCDS32130.1	14	.	.	.	.	.	.	.	.	.	.	T	18.24	3.579748	0.65992	.	.	ENSG00000100629	ENST00000281129;ENST00000555265;ENST00000393619;ENST00000216517;ENST00000327841;ENST00000555529;ENST00000556042	T;T;T;T;T	0.53206	1.22;1.22;0.63;0.67;0.69	6.16	6.16	0.99307	.	0.052703	0.85682	D	0.000000	T	0.52629	0.1746	L	0.34521	1.04	0.37518	D	0.91742	D;D;D	0.65815	0.995;0.971;0.99	P;P;P	0.59643	0.861;0.721;0.701	T	0.53070	-0.8490	10	0.25751	T	0.34	.	14.3293	0.66545	0.0:0.0:0.0:1.0	.	108;108;108	G3V3F4;Q6ZU80-3;Q6ZU80	.;.;CE128_HUMAN	G	108;108;108;108;48;108;108	ENSP00000281129:S108G;ENSP00000451162:S108G;ENSP00000216517:S108G;ENSP00000451137:S108G;ENSP00000451214:S108G	ENSP00000216517:S108G	S	-	1	0	CEP128	80442091	1.000000	0.71417	0.995000	0.50966	0.434000	0.31775	5.194000	0.65125	2.367000	0.80283	0.528000	0.53228	AGT	-	NULL		0.348	CEP128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP128	protein_coding	OTTHUMT00000413415.1	T	NM_152446	-		81372338	-1	no_errors	ENST00000281129	ensembl	human	known	74_37	missense	SNP	1.000	C
IDH3A	3419	genome.wustl.edu	37	15	78452504	78452504	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr15:78452504C>T	ENST00000299518.2	+	4	328	c.245C>T	c.(244-246)tCa>tTa	p.S82L	IDH3A_ENST00000558535.1_3'UTR|IDH3A_ENST00000441490.2_Intron|IDH3A_ENST00000559205.1_Intron|IDH3A_ENST00000558554.1_Missense_Mutation_p.S82L	NM_005530.2	NP_005521.1	P50213	IDH3A_HUMAN	isocitrate dehydrogenase 3 (NAD+) alpha	82					carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	isocitrate dehydrogenase (NAD+) activity (GO:0004449)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)	p.S82L(1)		endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	12						ATGATCCCTTCAGAGGCTAAA	0.498																																																	1	Substitution - Missense(1)	large_intestine(1)						ENSG00000166411						80.0	74.0	76.0					15																	78452504		2196	4293	6489	IDH3A	SO:0001583	missense	0			-	HGNC		CCDS10297.1	15q25.1-q25.2	2008-07-18			ENSG00000166411	ENSG00000166411	1.1.1.41		5384	protein-coding gene	gene with protein product	"""H-IDH alpha"", ""isocitric dehydrogenase"", ""isocitrate dehydrogenase [NAD] subunit alpha, mitochondrial"", ""NAD+-specific ICDH"", ""NAD(H)-specific isocitrate dehydrogenase alpha subunit"", ""isocitrate dehydrogenase (NAD+) alpha chain"""	601149				8833160	Standard	NM_005530		Approved		uc002bdd.3	P50213	OTTHUMG00000143732	ENST00000299518.2:c.245C>T	15.37:g.78452504C>T	ENSP00000299518:p.Ser82Leu	Somatic	0	42	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	24	17.24	D3DW83|Q9H3X0	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_IsoPropMal-DH-like_dom,tigrfam_Isocitrate_DH_NAD	p.S82L	ENST00000299518.2	37	c.245	CCDS10297.1	15	.	.	.	.	.	.	.	.	.	.	C	18.30	3.593959	0.66219	.	.	ENSG00000166411	ENST00000299518	T	0.69175	-0.38	5.62	5.62	0.85841	Isopropylmalate dehydrogenase-like domain (2);	0.048279	0.85682	D	0.000000	T	0.63224	0.2493	L	0.46157	1.445	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.003	T	0.57768	-0.7754	10	0.45353	T	0.12	-3.9898	18.6639	0.91481	0.0:1.0:0.0:0.0	.	82;82	B4DSY4;P50213	.;IDH3A_HUMAN	L	82	ENSP00000299518:S82L	ENSP00000299518:S82L	S	+	2	0	IDH3A	76239559	0.985000	0.35326	0.941000	0.38009	0.986000	0.74619	3.913000	0.56394	2.644000	0.89710	0.561000	0.74099	TCA	-	pfam_IsoPropMal-DH-like_dom,tigrfam_Isocitrate_DH_NAD		0.498	IDH3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IDH3A	protein_coding	OTTHUMT00000289799.4	C	NM_005530	-		78452504	+1	no_errors	ENST00000299518	ensembl	human	known	74_37	missense	SNP	0.999	T
C16orf96	342346	genome.wustl.edu	37	16	4624985	4624985	+	Missense_Mutation	SNP	A	A	T			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr16:4624985A>T	ENST00000444310.4	+	4	619	c.619A>T	c.(619-621)Aat>Tat	p.N207Y		NM_001145011.1	NP_001138483.1			chromosome 16 open reading frame 96											NS(1)|breast(1)|endometrium(6)|kidney(1)|skin(3)	12						TTCTCTCCAGAATAAGTTTAA	0.532																																																	0								ENSG00000205832						96.0	89.0	91.0					16																	4624985		692	1591	2283	C16orf96	SO:0001583	missense	0			-	HGNC		CCDS53986.1	16p13.3	2012-10-10			ENSG00000205832	ENSG00000205832			40031	protein-coding gene	gene with protein product							Standard	NM_001145011		Approved		uc010uxn.2	A6NNT2	OTTHUMG00000176519	ENST00000444310.4:c.619A>T	16.37:g.4624985A>T	ENSP00000415027:p.Asn207Tyr	Somatic	0	36	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	16	30.43		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.N207Y	ENST00000444310.4	37	c.619	CCDS53986.1	16	.	.	.	.	.	.	.	.	.	.	A	12.11	1.838153	0.32513	.	.	ENSG00000205832	ENST00000444310	T	0.22539	1.95	4.54	3.43	0.39272	.	0.986834	0.08239	N	0.976370	T	0.15782	0.0380	N	0.14661	0.345	0.26809	N	0.969033	B	0.25441	0.126	B	0.32928	0.155	T	0.35919	-0.9769	10	0.52906	T	0.07	-2.5294	8.4307	0.32755	0.7769:0.2231:0.0:0.0	.	207	A6NNT2	CP096_HUMAN	Y	207	ENSP00000415027:N207Y	ENSP00000415027:N207Y	N	+	1	0	C16orf96	4564986	0.512000	0.26186	0.416000	0.26546	0.053000	0.15095	0.855000	0.27805	0.844000	0.35094	0.379000	0.24179	AAT	-	NULL		0.532	C16orf96-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	C16orf96	protein_coding	OTTHUMT00000432384.1	A	NM_001145011	-		4624985	+1	no_errors	ENST00000444310	ensembl	human	known	74_37	missense	SNP	0.709	T
ATP8A2	51761	genome.wustl.edu	37	13	26043135	26043135	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr13:26043135G>T	ENST00000381655.2	+	2	239	c.97G>T	c.(97-99)Ggc>Tgc	p.G33C	ATP8A2_ENST00000255283.8_5'UTR	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	0					aging (GO:0007568)|axonogenesis (GO:0007409)|detection of light stimulus involved in visual perception (GO:0050908)|eating behavior (GO:0042755)|inner ear morphogenesis (GO:0042472)|involuntary skeletal muscle contraction (GO:0003011)|negative regulation of cell proliferation (GO:0008285)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling posture (GO:0050884)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phospholipid translocation (GO:0061092)|response to auditory stimulus (GO:0010996)|retina layer formation (GO:0010842)|skin development (GO:0043588)	cell projection (GO:0042995)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		TTCTTCTTTGGGCTATAAGAA	0.607																																																	0								ENSG00000132932						73.0	81.0	78.0					13																	26043135		2027	4182	6209	ATP8A2	SO:0001583	missense	0			-	HGNC	AL137256	CCDS41873.1	13q12	2010-04-20	2010-03-31		ENSG00000132932	ENSG00000132932	3.6.3.1	"""ATPases / P-type"""	13533	protein-coding gene	gene with protein product		605870	"""ATPase, aminophospholipid transporter-like, Class I, type 8A, member 2"", ""ATPase, aminophospholipid transporter-like, class I, type 8A, member 2"""			11015572, 19778899	Standard	NM_016529		Approved	ATPIB, ML-1	uc001uqk.3	Q9NTI2	OTTHUMG00000016611	ENST00000381655.2:c.97G>T	13.37:g.26043135G>T	ENSP00000371070:p.Gly33Cys	Somatic	0	52	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	9	55.00	Q9H527|Q9NPU6|Q9NTL2|Q9NYM3	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.G33C	ENST00000381655.2	37	c.97	CCDS41873.1	13	.	.	.	.	.	.	.	.	.	.	G	16.31	3.088366	0.55968	.	.	ENSG00000132932	ENST00000381655	T	0.59224	0.28	4.16	2.3	0.28687	.	0.344881	0.28877	N	0.013858	T	0.49321	0.1550	N	0.25647	0.755	0.80722	D	1	.	.	.	.	.	.	T	0.52837	-0.8522	8	0.62326	D	0.03	.	8.5993	0.33734	0.0944:0.1587:0.7469:0.0	.	.	.	.	C	33	ENSP00000371070:G33C	ENSP00000371070:G33C	G	+	1	0	ATP8A2	24941135	1.000000	0.71417	1.000000	0.80357	0.266000	0.26442	5.691000	0.68249	2.156000	0.67533	0.400000	0.26472	GGC	-	NULL		0.607	ATP8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP8A2	protein_coding	OTTHUMT00000044236.2	G	NM_016529	-		26043135	+1	no_errors	ENST00000381655	ensembl	human	known	74_37	missense	SNP	1.000	T
GLP1R	2740	genome.wustl.edu	37	6	39040728	39040728	+	Silent	SNP	C	C	T			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr6:39040728C>T	ENST00000373256.4	+	6	643	c.600C>T	c.(598-600)gcC>gcT	p.A200A		NM_002062.3	NP_002053.3	P43220	GLP1R_HUMAN	glucagon-like peptide 1 receptor	200					activation of adenylate cyclase activity (GO:0007190)|cAMP-mediated signaling (GO:0019933)|energy reserve metabolic process (GO:0006112)|learning or memory (GO:0007611)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of heart contraction (GO:0008016)|regulation of insulin secretion (GO:0050796)|response to stress (GO:0006950)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glucagon receptor activity (GO:0004967)|transmembrane signaling receptor activity (GO:0004888)			breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	31					Exenatide(DB01276)|Glucagon recombinant(DB00040)|Liraglutide(DB06655)	AGGACGCAGCCCTGAAGTGGA	0.582																																																	0								ENSG00000112164						178.0	141.0	153.0					6																	39040728		2203	4300	6503	GLP1R	SO:0001819	synonymous_variant	0			-	HGNC		CCDS4839.1	6p21	2012-08-10			ENSG00000112164	ENSG00000112164		"""GPCR / Class B : Glucagon receptors"""	4324	protein-coding gene	gene with protein product		138032					Standard	NM_002062		Approved		uc003ooj.4	P43220	OTTHUMG00000014638	ENST00000373256.4:c.600C>T	6.37:g.39040728C>T		Somatic	0	53	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	29	23.68	Q2M229|Q99669	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_GLP1_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_GLP1/glucagon_rcpt,prints_GPCR_2_GIP_rcpt	p.A200	ENST00000373256.4	37	c.600	CCDS4839.1	6																																																																																			-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like		0.582	GLP1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLP1R	protein_coding	OTTHUMT00000040443.1	C		-		39040728	+1	no_errors	ENST00000373256	ensembl	human	known	74_37	silent	SNP	1.000	T
DOCK6	57572	genome.wustl.edu	37	19	11353984	11353984	+	Missense_Mutation	SNP	A	A	C			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr19:11353984A>C	ENST00000294618.7	-	12	1347	c.1336T>G	c.(1336-1338)Ttc>Gtc	p.F446V		NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	446					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						AAGCCAGAGAAGCTGCAGGCG	0.647											OREG0025252	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000130158						20.0	25.0	23.0					19																	11353984		1964	4138	6102	DOCK6	SO:0001583	missense	0			-	HGNC		CCDS45975.1	19p13.2	2011-08-04			ENSG00000130158	ENSG00000130158			19189	protein-coding gene	gene with protein product		614194				12432077	Standard	NM_020812		Approved	KIAA1395, ZIR1	uc002mqs.5	Q96HP0		ENST00000294618.7:c.1336T>G	19.37:g.11353984A>C	ENSP00000294618:p.Phe446Val	Somatic	0	127	0.00	671	0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	123	11.51	A6H8X5|Q7Z7P4|Q9P2F2	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_DOCK_C,pfam_DOCK_C/D_N	p.F446V	ENST00000294618.7	37	c.1336	CCDS45975.1	19	.	.	.	.	.	.	.	.	.	.	A	13.36	2.213777	0.39102	.	.	ENSG00000130158	ENST00000294618	T	0.43688	0.94	4.15	4.15	0.48705	.	0.000000	0.85682	D	0.000000	T	0.25938	0.0632	L	0.27053	0.805	0.80722	D	1	B	0.24618	0.107	B	0.25987	0.065	T	0.06215	-1.0839	10	0.15499	T	0.54	-24.623	7.2428	0.26106	0.8959:0.0:0.1041:0.0	.	446	Q96HP0	DOCK6_HUMAN	V	446	ENSP00000294618:F446V	ENSP00000294618:F446V	F	-	1	0	DOCK6	11214984	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	1.650000	0.37292	1.518000	0.48934	0.379000	0.24179	TTC	-	NULL		0.647	DOCK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK6	protein_coding	OTTHUMT00000453155.1	A	NM_020812	-		11353984	-1	no_errors	ENST00000294618	ensembl	human	known	74_37	missense	SNP	1.000	C
TAF1B	9014	genome.wustl.edu	37	2	9989571	9989571	+	Frame_Shift_Del	DEL	A	A	-	rs528368939		TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr2:9989571delA	ENST00000263663.5	+	3	375	c.187delA	c.(187-189)aaafs	p.K65fs	TAF1B_ENST00000402170.1_3'UTR|TAF1B_ENST00000396242.3_5'UTR	NM_005680.2	NP_005671	Q53T94	TAF1B_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa	65	B-reader.				gene expression (GO:0010467)|RNA polymerase I transcriptional preinitiation complex assembly at the promoter for the nuclear large rRNA transcript (GO:0001189)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RNA polymerase I core factor complex (GO:0070860)	metal ion binding (GO:0046872)|RNA polymerase I CORE element sequence-specific DNA binding (GO:0001164)|RNA polymerase I CORE element sequence-specific DNA binding transcription factor recruiting transcription factor activity (GO:0001187)|sequence-specific DNA binding transcription factor activity (GO:0003700)|TBP-class protein binding (GO:0017025)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CCGGGGGCTTAAAAAAAAAAA	0.333																																																	0								ENSG00000115750			139,495,3606		1,2,135,2,489,1491	20.0	22.0	21.0			1.7	0.9	2		23	207,946,7081		0,0,207,0,946,2964	no	codingComplex	TAF1B	NM_005680.2		1,2,342,2,1435,4455	A1A1,A1A2,A1R,A2A2,A2R,RR		14.0029,14.9528,14.3258			9989571	346,1441,10687	2194	4292	6486	TAF1B	SO:0001589	frameshift_variant	0				HGNC	L39061	CCDS33143.1	2p25	2008-06-02	2002-08-29		ENSG00000115750	ENSG00000115750			11533	protein-coding gene	gene with protein product		604904	"""TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kD"""			7801123	Standard	NM_005680		Approved	TAFI63, SL1, RAF1B, RAFI63	uc002qzz.3	Q53T94	OTTHUMG00000151673	ENST00000263663.5:c.187delA	2.37:g.9989571delA	ENSP00000263663:p.Lys65fs	Somatic	0	21	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	11	26.67	B4DI42|F8WD72|Q15574|Q8WVC3	Frame_Shift_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_TF_Rrn7	p.N66fs	ENST00000263663.5	37	c.187	CCDS33143.1	2																																																																																			-	NULL		0.333	TAF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF1B	protein_coding	OTTHUMT00000323426.2	A	NM_005680			9989571	+1	no_errors	ENST00000263663	ensembl	human	known	74_37	frame_shift_del	DEL	0.991	-
EXT1	2131	genome.wustl.edu	37	8	118825198	118825198	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr8:118825198delA	ENST00000378204.2	-	8	2441	c.1635delT	c.(1633-1635)gttfs	p.V545fs		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	545	Substrate binding. {ECO:0000250|UniProtKB:Q9ES89}.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular polysaccharide biosynthetic process (GO:0033692)|embryonic skeletal joint development (GO:0072498)|endoderm development (GO:0007492)|gastrulation (GO:0007369)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|mesoderm development (GO:0007498)|olfactory bulb development (GO:0021772)|ossification (GO:0001503)|protein glycosylation (GO:0006486)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)|glucuronosyltransferase activity (GO:0015020)|heparan sulfate N-acetylglucosaminyltransferase activity (GO:0042328)|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity (GO:0050509)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			GGCTGCTCATAACCTGGGAGG	0.507			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Langer-Giedion syndrome;Hereditary Multiple Exostoses																														yes	Rec		Multiple Exostoses Type 1	8	8q24.11-q24.13	2131	multiple exostoses type 1 gene		M	0								ENSG00000182197						132.0	104.0	113.0					8																	118825198		2203	4300	6503	EXT1	SO:0001589	frameshift_variant	0	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II;HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses		HGNC	S79639	CCDS6324.1	8q24.11	2014-09-17	2013-03-01		ENSG00000182197	ENSG00000182197	2.4.1.224, 2.4.1.225	"""Exostosin glycosyltransferase family"""	3512	protein-coding gene	gene with protein product	"""Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase"", ""N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"""	608177	"""Langer-Giedion syndrome chromosome region"", ""exostoses (multiple) 1"", ""exostosin 1"""	LGCR, LGS			Standard	NM_000127		Approved	ttv	uc003yok.1	Q16394	OTTHUMG00000059718	ENST00000378204.2:c.1635delT	8.37:g.118825198delA	ENSP00000367446:p.Val545fs	Somatic	0	32	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	7	22.22	B2R7V2|Q9BVI9	Frame_Shift_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_HexNAc_Trfase_a,pfam_Exostosin	p.M546fs	ENST00000378204.2	37	c.1635	CCDS6324.1	8																																																																																			-	pfam_HexNAc_Trfase_a		0.507	EXT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXT1	protein_coding	OTTHUMT00000132768.3	A	NM_000127			118825198	-1	no_errors	ENST00000378204	ensembl	human	known	74_37	frame_shift_del	DEL	0.068	-
SRPK2	6733	genome.wustl.edu	37	7	104844172	104844172	+	Silent	SNP	T	T	A			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr7:104844172T>A	ENST00000393651.3	-	3	219	c.132A>T	c.(130-132)ccA>ccT	p.P44P	SRPK2_ENST00000357311.3_Silent_p.P33P|SRPK2_ENST00000489828.1_Silent_p.P33P	NM_182692.1	NP_872634.1			SRSF protein kinase 2									p.P33P(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						AAggtggcggtggtggtggtg	0.557																																																	1	Substitution - coding silent(1)	large_intestine(1)						ENSG00000135250						47.0	42.0	43.0					7																	104844172		2203	4300	6503	SRPK2	SO:0001819	synonymous_variant	0			-	HGNC	U88666	CCDS5735.1, CCDS34724.1	7q22-q31.1	2010-06-23	2010-06-23		ENSG00000135250	ENSG00000135250			11306	protein-coding gene	gene with protein product	"""SR protein kinase 2"", ""serine/arginine-rich splicing factor kinase 2"""	602980	"""SFRS protein kinase 2"""			8208298, 9472028	Standard	NM_182692		Approved	SFRSK2	uc003vcv.4	P78362	OTTHUMG00000157405	ENST00000393651.3:c.132A>T	7.37:g.104844172T>A		Somatic	0	43	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	40	32.79		Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Prot_kinase_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_dom	p.P44	ENST00000393651.3	37	c.132	CCDS34724.1	7																																																																																			-	NULL		0.557	SRPK2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SRPK2	protein_coding	OTTHUMT00000348723.1	T	NM_182691	-		104844172	-1	no_errors	ENST00000393651	ensembl	human	known	74_37	silent	SNP	0.570	A
GOLGA6L4	643707	genome.wustl.edu	37	15	82932257	82932288	+	5'UTR	DEL	ACACAAATAAATTTAAACTATAAATTAGAAAC	ACACAAATAAATTTAAACTATAAATTAGAAAC	-	rs555363824	byFrequency	TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	ACACAAATAAATTTAAACTATAAATTAGAAAC	ACACAAATAAATTTAAACTATAAATTAGAAAC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr15:82932257_82932288delACACAAATAAATTTAAACTATAAATTAGAAAC	ENST00000560844.1	-	0	2502_2533																				NS(1)	1						taaattagaaacacaaataaatttaaactataaattagaaacacaaataaat	0.207																																																	0								ENSG00000215749																																			RP13-996F3.5	SO:0001623	5_prime_UTR_variant	0				Clone_based_vega_gene																												ENST00000560844.1:c.-1851GTTTCTAATTTATAGTTTAAATTTATTTGTGT>-	15.37:g.82932257_82932288delACACAAATAAATTTAAACTATAAATTAGAAAC		Somatic	NA	NA	NA		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA		RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000560844.1	37	NULL		15																																																																																			-	-		0.207	RP13-996F3.5-002	KNOWN	basic	processed_transcript	GOLGA6L4	protein_coding	OTTHUMT00000419267.1	ACACAAATAAATTTAAACTATAAATTAGAAAC				82932288	-1	no_errors	ENST00000560844	ensembl	human	known	74_37	rna	DEL	0.140:0.148:0.154:0.160:0.165:0.169:0.172:0.175:0.177:0.178:0.179:0.179:0.180:0.179:0.135:0.131:0.126:0.121:0.112:0.097:0.077:0.050:0.041:0.040:0.045:0.047:0.048:0.046:0.049:0.052:0.050:0.046	-
WDR46	9277	genome.wustl.edu	37	6	33248658	33248658	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr6:33248658C>T	ENST00000374617.4	-	11	1578	c.1222G>A	c.(1222-1224)Gcc>Acc	p.A408T	B3GALT4_ENST00000606990.1_Intron	NM_001164267.1|NM_005452.5	NP_001157739.1|NP_005443.3	O15213	WDR46_HUMAN	WD repeat domain 46	408							poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	20						TGGGAGAAGGCCAGGTGCCCT	0.637																																																	0								ENSG00000227057						70.0	74.0	72.0					6																	33248658		2203	4300	6503	WDR46	SO:0001583	missense	0			-	HGNC	Z97184	CCDS4772.1	6p21.3	2013-01-09	2005-05-31	2005-05-31	ENSG00000227057	ENSG00000227057		"""WD repeat domain containing"""	13923	protein-coding gene	gene with protein product		611440	"""chromosome 6 open reading frame 11"""	C6orf11		9545376, 9521053	Standard	NM_005452		Approved	BING4, UTP7	uc003ods.3	O15213	OTTHUMG00000031192	ENST00000374617.4:c.1222G>A	6.37:g.33248658C>T	ENSP00000363746:p.Ala408Thr	Somatic	0	26	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	18	21.74	A6NDP5|Q5HYZ0|Q5STK5|Q5STR3	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_BING4_C_dom,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.A408T	ENST00000374617.4	37	c.1222	CCDS4772.1	6	.	.	.	.	.	.	.	.	.	.	C	7.996	0.754294	0.15778	.	.	ENSG00000227057	ENST00000374617	T	0.01464	4.86	5.39	4.51	0.55191	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.227314	0.45867	N	0.000324	T	0.00637	0.0021	L	0.39397	1.21	0.35964	D	0.83483	B;B	0.09022	0.002;0.001	B;B	0.09377	0.004;0.002	T	0.47699	-0.9097	10	0.15499	T	0.54	-12.0178	7.1188	0.25431	0.1686:0.7455:0.0:0.0859	.	354;408	B4DP15;O15213	.;WDR46_HUMAN	T	408	ENSP00000363746:A408T	ENSP00000363746:A408T	A	-	1	0	WDR46	33356636	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.517000	0.35867	1.486000	0.48398	0.549000	0.68633	GCC	-	superfamily_WD40_repeat_dom,smart_WD40_repeat		0.637	WDR46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR46	protein_coding	OTTHUMT00000076382.2	C	NM_005452	-		33248658	-1	no_errors	ENST00000374617	ensembl	human	known	74_37	missense	SNP	1.000	T
THAP7	80764	genome.wustl.edu	37	22	21354499	21354499	+	Missense_Mutation	SNP	C	C	A			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr22:21354499C>A	ENST00000215742.4	-	4	774	c.600G>T	c.(598-600)caG>caT	p.Q200H	THAP7-AS1_ENST00000429962.1_RNA|THAP7_ENST00000399133.2_Missense_Mutation_p.Q200H|THAP7-AS1_ENST00000436079.1_RNA|THAP7-AS1_ENST00000452284.1_RNA	NM_030573.2	NP_085050.2	Q9BT49	THAP7_HUMAN	THAP domain containing 7	200					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nuclear speck (GO:0016607)	C2H2 zinc finger domain binding (GO:0070742)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)			cervix(1)|lung(2)|prostate(3)|skin(1)|stomach(1)	8	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			GAGGGGAGGGCTGCCGCTCTG	0.652																																																	0								ENSG00000184436																																			THAP7	SO:0001583	missense	0			-	HGNC	BC004346	CCDS13787.1	22q11.2	2013-01-25			ENSG00000184436	ENSG00000184436		"""THAP (C2CH-type zinc finger) domain containing"""	23190	protein-coding gene	gene with protein product		609518				12575992	Standard	NM_030573		Approved	MGC10963	uc002ztr.1	Q9BT49	OTTHUMG00000150879	ENST00000215742.4:c.600G>T	22.37:g.21354499C>A	ENSP00000215742:p.Gln200His	Somatic	0	20	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	31	16.22	B2RD97|D3DX40	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH	p.Q200H	ENST00000215742.4	37	c.600	CCDS13787.1	22	.	.	.	.	.	.	.	.	.	.	C	11.33	1.606908	0.28623	.	.	ENSG00000184436	ENST00000215742;ENST00000399133	D;D	0.95821	-3.82;-3.82	4.35	3.29	0.37713	.	0.316889	0.20862	N	0.084327	D	0.87740	0.6253	N	0.08118	0	0.25752	N	0.985042	B	0.02656	0.0	B	0.01281	0.0	T	0.79022	-0.1973	10	0.38643	T	0.18	-17.3454	10.0126	0.41995	0.0:0.7831:0.2169:0.0	.	200	Q9BT49	THAP7_HUMAN	H	200	ENSP00000215742:Q200H;ENSP00000382084:Q200H	ENSP00000215742:Q200H	Q	-	3	2	THAP7	19684499	0.278000	0.24230	0.889000	0.34880	0.957000	0.61999	0.478000	0.22212	1.115000	0.41800	0.655000	0.94253	CAG	-	NULL		0.652	THAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THAP7	protein_coding	OTTHUMT00000320405.1	C	NM_030573	-		21354499	-1	no_errors	ENST00000215742	ensembl	human	known	74_37	missense	SNP	0.970	A
ATXN1	6310	genome.wustl.edu	37	6	16327956	16327956	+	Missense_Mutation	SNP	C	C	G			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr6:16327956C>G	ENST00000244769.4	-	8	1522	c.586G>C	c.(586-588)Gag>Cag	p.E196Q	ATXN1_ENST00000436367.1_Missense_Mutation_p.E196Q	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	196					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|nuclear export (GO:0051168)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear inclusion body (GO:0042405)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|protein self-association (GO:0043621)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				tgctgctgctCAGCCTTGTGT	0.652																																																	0								ENSG00000124788						12.0	14.0	13.0					6																	16327956		2090	4139	6229	ATXN1	SO:0001583	missense	0			-	HGNC	X79204	CCDS34342.1	6p23	2014-09-17	2004-08-12	2004-08-13	ENSG00000124788	ENSG00000124788		"""Ataxins"""	10548	protein-coding gene	gene with protein product		601556	"""spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)"""	SCA1		1582256	Standard	NM_000332		Approved	D6S504E, ATX1	uc010jpi.3	P54253	OTTHUMG00000014303	ENST00000244769.4:c.586G>C	6.37:g.16327956C>G	ENSP00000244769:p.Glu196Gln	Somatic	0	37	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	21	14.81	Q17S02|Q9UJG2|Q9Y4J1	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Ataxin-1_HBP1,pfam_Capicua_tscrpt_rep_mod,superfamily_Ataxin-1_HBP1,smart_Ataxin_AXH_dom,pfscan_Ataxin-1_HBP1	p.E196Q	ENST00000244769.4	37	c.586	CCDS34342.1	6	.	.	.	.	.	.	.	.	.	.	C	22.0	4.234922	0.79800	.	.	ENSG00000124788	ENST00000244769;ENST00000450222;ENST00000436367	T;T	0.31510	1.49;1.49	5.14	5.14	0.70334	.	0.170141	0.39475	N	0.001358	T	0.45357	0.1338	M	0.63843	1.955	0.46356	D	0.999004	D	0.69078	0.997	D	0.75484	0.986	T	0.38564	-0.9655	10	0.51188	T	0.08	-29.1264	16.789	0.85582	0.0:1.0:0.0:0.0	.	196	P54253	ATX1_HUMAN	Q	196	ENSP00000244769:E196Q;ENSP00000416360:E196Q	ENSP00000244769:E196Q	E	-	1	0	ATXN1	16435935	1.000000	0.71417	0.994000	0.49952	0.773000	0.43773	5.230000	0.65321	2.390000	0.81377	0.467000	0.42956	GAG	-	NULL		0.652	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATXN1	protein_coding	OTTHUMT00000039943.3	C	NM_000332	-		16327956	-1	no_errors	ENST00000244769	ensembl	human	known	74_37	missense	SNP	1.000	G
SELL	6402	genome.wustl.edu	37	1	169670639	169670640	+	5'UTR	INS	-	-	T	rs368453171		TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr1:169670639_169670640insT	ENST00000463108.1	-	0	1341_1342				C1orf112_ENST00000498289.1_Intron|SELL_ENST00000236147.4_Intron			P14151	LYAM1_HUMAN	selectin L						blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)|regulation of immune response (GO:0050776)|response to ATP (GO:0033198)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|protease binding (GO:0002020)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	15	all_hematologic(923;0.208)					CTGTGGGTTTCTTTTTTTTTTC	0.361																																																	0								ENSG00000188404																																			SELL	SO:0001623	5_prime_UTR_variant	0				HGNC	M25280	CCDS53427.1	1q23-q25	2008-07-31	2008-07-31		ENSG00000188404	ENSG00000188404		"""CD molecules"""	10720	protein-coding gene	gene with protein product		153240	"""lymphocyte adhesion molecule 1"""	LYAM1, LNHR		2664786, 1375831	Standard	NR_029467		Approved	LSEL, LAM1, LAM-1, hLHRc, Leu-8, Lyam-1, PLNHR, CD62L	uc001ggk.3	P14151	OTTHUMG00000034809	ENST00000463108.1:c.-5->A	1.37:g.169670649_169670649dupT		Somatic	0	26	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	23	8.00	B2R6Q8|P15023|Q9UJ43	RNA	INS	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000463108.1	37	NULL		1																																																																																			-	-		0.361	SELL-002	KNOWN	basic	processed_transcript	SELL	protein_coding	OTTHUMT00000084281.1	-	NM_000655			169670640	-1	no_errors	ENST00000463108	ensembl	human	known	74_37	rna	INS	0.134:0.017	T
NPHP4	261734	genome.wustl.edu	37	1	5924040	5924040	+	Silent	SNP	G	G	T			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr1:5924040G>T	ENST00000378156.4	-	29	4315	c.4050C>A	c.(4048-4050)atC>atA	p.I1350I	NPHP4_ENST00000478423.2_5'UTR|MIR4689_ENST00000582517.1_RNA	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	1350					actin cytoskeleton organization (GO:0030036)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		TGGTGTAGGTGATCCTCTTGT	0.627																																																	0								ENSG00000131697						94.0	111.0	105.0					1																	5924040		2071	4182	6253	NPHP4	SO:0001819	synonymous_variant	0			-	HGNC	AB014573	CCDS44052.1	1p36	2010-03-26			ENSG00000131697	ENSG00000131697			19104	protein-coding gene	gene with protein product	"""nephroretinin"", ""nephrocystin-4"", ""POC10 centriolar protein homolog (Chlamydomonas)"""	607215				11920287, 12205563	Standard	XR_244787		Approved	SLSN4, KIAA0673, POC10	uc001alq.2	O75161	OTTHUMG00000000701	ENST00000378156.4:c.4050C>A	1.37:g.5924040G>T		Somatic	0	80	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	57	27.85	Q8IWC0	Silent	SNP	NA	NA	NA	NA	NA	NA	NULL	p.I1350	ENST00000378156.4	37	c.4050	CCDS44052.1	1																																																																																			-	NULL		0.627	NPHP4-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	NPHP4	protein_coding	OTTHUMT00000001715.2	G		-		5924040	-1	no_errors	ENST00000378156	ensembl	human	known	74_37	silent	SNP	1.000	T
PCDHB13	56123	genome.wustl.edu	37	5	140594306	140594306	+	Missense_Mutation	SNP	A	A	T			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr5:140594306A>T	ENST00000341948.4	+	1	798	c.611A>T	c.(610-612)gAg>gTg	p.E204V		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	204	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTGGACCGAGAGGAAGAAGCT	0.542																																																	0								ENSG00000187372						53.0	58.0	56.0					5																	140594306		2202	4279	6481	PCDHB13	SO:0001583	missense	0			-	HGNC	AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"""Cadherins / Protocadherins : Clustered"""	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.611A>T	5.37:g.140594306A>T	ENSP00000345491:p.Glu204Val	Somatic	0	70	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	58	24.68	A8K9V6	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E204V	ENST00000341948.4	37	c.611	CCDS4255.1	5	.	.	.	.	.	.	.	.	.	.	a	21.2	4.110512	0.77210	.	.	ENSG00000187372	ENST00000341948;ENST00000430318;ENST00000419217	T	0.73152	-0.72	3.51	3.51	0.40186	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.90390	0.6992	H	0.99919	4.95	0.42849	D	0.994075	D	0.89917	1.0	D	0.97110	1.0	D	0.90635	0.4570	9	0.87932	D	0	.	7.9204	0.29843	0.895:0.0:0.105:0.0	.	204	Q9Y5F0	PCDBD_HUMAN	V	204	ENSP00000345491:E204V	ENSP00000345491:E204V	E	+	2	0	PCDHB13	140574490	1.000000	0.71417	0.047000	0.18901	0.453000	0.32348	9.265000	0.95647	1.369000	0.46134	0.254000	0.18369	GAG	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.542	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB13	protein_coding	OTTHUMT00000251810.1	A	NM_018933	-		140594306	+1	no_errors	ENST00000341948	ensembl	human	known	74_37	missense	SNP	0.974	T
TSPAN7	7102	genome.wustl.edu	37	X	38482210	38482210	+	Intron	SNP	T	T	A			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chrX:38482210T>A	ENST00000378482.2	+	2	258				TSPAN7_ENST00000545599.1_5'UTR|TSPAN7_ENST00000422612.2_Intron|TSPAN7_ENST00000488893.1_Intron|TSPAN7_ENST00000286824.6_Intron|TM4SF2_ENST00000465127.1_Intron	NM_004615.3	NP_004606.2	P41732	TSN7_HUMAN	tetraspanin 7						viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	11						ACATAACaagtaatatggtat	0.363																																																	0								ENSG00000156298																																			TSPAN7	SO:0001627	intron_variant	0			-	HGNC	D29808	CCDS14248.1	Xp11.4	2013-02-14	2005-03-21	2005-03-21	ENSG00000156298	ENSG00000156298		"""CD molecules"", ""Tetraspanins"""	11854	protein-coding gene	gene with protein product		300096	"""transmembrane 4 superfamily member 2"", ""mental retardation, X-linked 58"""	MXS1, TM4SF2, MRX58		12070254	Standard	NM_004615		Approved	DXS1692E, TALLA-1, A15, CD231	uc004deg.4	P41732	OTTHUMG00000024090	ENST00000378482.2:c.82-43165T>A	X.37:g.38482210T>A		Somatic	0	57	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	47	12.96	B2R5W7|D3DWB1|Q8WVG5|Q9UEY9	Nonstop_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.*46K	ENST00000378482.2	37	c.136	CCDS14248.1	X																																																																																			-	NULL		0.363	TSPAN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPAN7	protein_coding	OTTHUMT00000356412.1	T		-		38482210	+1	no_errors	ENST00000475216	ensembl	human	known	74_37	nonstop	SNP	0.000	A
ZAK	51776	genome.wustl.edu	37	2	174085893	174085893	+	Intron	SNP	G	G	T			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr2:174085893G>T	ENST00000375213.3	+	11	1065				MLK7-AS1_ENST00000423106.2_RNA|MLTK_ENST00000338983.3_Missense_Mutation_p.A335S|MLK7-AS1_ENST00000422703.1_RNA|MLTK_ENST00000539448.1_Missense_Mutation_p.A335S|MLTK_ENST00000409176.2_Intron|MLTK_ENST00000431503.2_Missense_Mutation_p.A234S	NM_016653.2	NP_057737.2	Q9NYL2	MLTK_HUMAN							activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell death (GO:0008219)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|DNA damage checkpoint (GO:0000077)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|response to radiation (GO:0009314)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)										CTTGCCTCTTGCTGCAAGAAT	0.393																																																	0								ENSG00000091436						56.0	59.0	58.0					2																	174085893		2203	4300	6503	MLTK	SO:0001627	intron_variant	0			-	Uniprot_gn																												ENST00000375213.3:c.987+3915G>T	2.37:g.174085893G>T		Somatic	0	66	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	50	9.09	B3KPG2|Q53SX1|Q580W8|Q59GY5|Q86YW8|Q9HCC4|Q9HCC5|Q9HDD2|Q9NYE9	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.A335S	ENST00000375213.3	37	c.1003	CCDS42777.1	2	.	.	.	.	.	.	.	.	.	.	G	8.200	0.797980	0.16327	.	.	ENSG00000091436	ENST00000539448;ENST00000338983;ENST00000431503	T;T;T	0.78481	-0.79;-0.79;-1.18	5.92	5.02	0.67125	.	.	.	.	.	T	0.59238	0.2179	N	0.08118	0	0.30589	N	0.761717	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.47611	-0.9104	9	0.08837	T	0.75	.	16.0582	0.80820	0.0:0.0:0.861:0.139	.	335;335	A8K710;D4Q8H0	.;.	S	335;335;234	ENSP00000439414:A335S;ENSP00000340257:A335S;ENSP00000399787:A234S	ENSP00000340257:A335S	A	+	1	0	AC013461.1	173794139	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.154000	0.64894	1.458000	0.47871	0.655000	0.94253	GCT	-	NULL		0.393	MLTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZAK	protein_coding	OTTHUMT00000255401.1	G		-		174085893	+1	no_errors	ENST00000338983	ensembl	human	known	74_37	missense	SNP	1.000	T
PRG4	10216	genome.wustl.edu	37	1	186273952	186273954	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	TCC	TCC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr1:186273952_186273954delTCC	ENST00000445192.2	+	6	541_543	c.496_498delTCC	c.(496-498)tccdel	p.S177del	PRG4_ENST00000367483.4_In_Frame_Del_p.S136del|PRG4_ENST00000367484.3_In_Frame_Del_p.S136del|PRG4_ENST00000367486.3_Intron|PRG4_ENST00000367485.4_Intron	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	177	Ser-rich.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						AAATCAAGAGtcctcctcctcct	0.355																																																	0								ENSG00000116690																																			PRG4	SO:0001651	inframe_deletion	0				HGNC	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.496_498delTCC	1.37:g.186273961_186273963delTCC	ENSP00000399679:p.Ser177del	Somatic	0	59	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	33	10.81	Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	In_Frame_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_Somatomedin_B_dom,pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Somatomedin_B_dom,smart_Hemopexin-like_repeat,prints_Somatomedin_B_chordata,pfscan_Somatomedin_B_dom	p.S169in_frame_del	ENST00000445192.2	37	c.496_498	CCDS1369.1	1																																																																																			-	NULL		0.355	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRG4	protein_coding	OTTHUMT00000086346.1	TCC	NM_005807			186273954	+1	no_errors	ENST00000445192	ensembl	human	known	74_37	in_frame_del	DEL	1.000:1.000:1.000	-
CYP3A4	1576	genome.wustl.edu	37	7	99355784	99355784	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr7:99355784G>T	ENST00000336411.2	-	13	1667	c.1484C>A	c.(1483-1485)tCa>tAa	p.S495*	CYP3A4_ENST00000354593.2_Nonsense_Mutation_p.S345*	NM_001202855.2|NM_017460.5	NP_001189784.1|NP_059488.2	P08684	CP3A4_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 4	495					alkaloid catabolic process (GO:0009822)|androgen metabolic process (GO:0008209)|calcitriol biosynthetic process from calciol (GO:0036378)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|lipid metabolic process (GO:0006629)|monoterpenoid metabolic process (GO:0016098)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid catabolic process (GO:0006706)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	albendazole monooxygenase activity (GO:0047638)|caffeine oxidase activity (GO:0034875)|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)|oxygen binding (GO:0019825)|quinine 3-monooxygenase activity (GO:0050591)|steroid binding (GO:0005496)|steroid hydroxylase activity (GO:0008395)|taurochenodeoxycholate 6alpha-hydroxylase activity (GO:0033780)|testosterone 6-beta-hydroxylase activity (GO:0050649)|vitamin D 24-hydroxylase activity (GO:0070576)|vitamin D3 25-hydroxylase activity (GO:0030343)			breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Abiraterone(DB05812)|Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Acetazolamide(DB00819)|Adinazolam(DB00546)|ado-trastuzumab emtansine(DB05773)|Albendazole(DB00518)|Alclometasone(DB00240)|Aldesleukin(DB00041)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Alimemazine(DB01246)|Aliskiren(DB01258)|Allylestrenol(DB01431)|Almotriptan(DB00918)|Alogliptin(DB06203)|Alosetron(DB00969)|Alprazolam(DB00404)|Ambroxol(DB06742)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Aminophylline(DB01223)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Argatroban(DB00278)|Aripiprazole(DB01238)|Arsenic trioxide(DB01169)|Artemether(DB06697)|Asenapine(DB06216)|Astemizole(DB00637)|Atazanavir(DB01072)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Avanafil(DB06237)|Axitinib(DB06626)|Azatadine(DB00719)|Azelastine(DB00972)|Azithromycin(DB00207)|Bedaquiline(DB08903)|Benzphetamine(DB00865)|Benzyl alcohol(DB06770)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bezafibrate(DB01393)|Bicalutamide(DB01128)|Bifonazole(DB04794)|Bisoprolol(DB00612)|Boceprevir(DB08873)|Bortezomib(DB00188)|Bosentan(DB00559)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Brinzolamide(DB01194)|Bromazepam(DB01558)|Bromocriptine(DB01200)|Brompheniramine(DB00835)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Buspirone(DB00490)|Busulfan(DB01008)|Cabazitaxel(DB06772)|Cabergoline(DB00248)|Cabozantinib(DB08875)|Caffeine(DB00201)|Calcitriol(DB00136)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Caspofungin(DB00520)|Cefradine(DB01333)|Celecoxib(DB00482)|Cephalexin(DB00567)|Cevimeline(DB00185)|Chenodeoxycholic acid(DB06777)|Chloramphenicol(DB00446)|Chlordiazepoxide(DB00475)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clemastine(DB00283)|Clevidipine(DB04920)|Clindamycin(DB01190)|Clobazam(DB00349)|Clofazimine(DB00845)|Clofibrate(DB00636)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonazepam(DB01068)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Codeine(DB00318)|Colchicine(DB01394)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cortisone acetate(DB01380)|Crizotinib(DB08865)|Cyclobenzaprine(DB00924)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Cytarabine(DB00987)|Dabrafenib(DB08912)|Dalfopristin(DB01764)|Danazol(DB01406)|Dantrolene(DB01219)|Dapagliflozin(DB06292)|Dapsone(DB00250)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Deferasirox(DB01609)|Delavirdine(DB00705)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Dicloxacillin(DB00485)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydrocodeine(DB01551)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Disopyramide(DB00280)|Disulfiram(DB00822)|Docetaxel(DB01248)|Dofetilide(DB00204)|Dolasetron(DB00757)|Dolutegravir(DB08930)|Domperidone(DB01184)|Donepezil(DB00843)|Dorzolamide(DB00869)|Doxepin(DB01142)|Doxorubicin(DB00997)|Doxycycline(DB00254)|Dronabinol(DB00470)|Dronedarone(DB04855)|Dutasteride(DB01126)|Econazole(DB01127)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Epinephrine(DB00668)|Eplerenone(DB00700)|Ergocalciferol(DB00153)|Ergoloid mesylate(DB01049)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Estradiol valerate/Dienogest(DB08866)|Estradiol(DB00783)|Estramustine(DB01196)|Estrone(DB00655)|Estropipate(DB04574)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Ethylmorphine(DB01466)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Etravirine(DB06414)|Everolimus(DB01590)|Exemestane(DB00990)|Ezetimibe(DB00973)|Famciclovir(DB00426)|Felbamate(DB00949)|Felodipine(DB01023)|Fenofibrate(DB01039)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Finasteride(DB01216)|Fingolimod(DB08868)|Flucloxacillin(DB00301)|Fluconazole(DB00196)|Flunisolide(DB00180)|Flunitrazepam(DB01544)|Fluorometholone(DB00324)|Fluoxetine(DB00472)|Flurazepam(DB00690)|Flutamide(DB00499)|Fluticasone furoate(DB08906)|Fluticasone Propionate(DB00588)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Fosamprenavir(DB01319)|Fosphenytoin(DB01320)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Glipizide(DB01067)|Glyburide(DB01016)|Granisetron(DB00889)|Griseofulvin(DB00400)|Guanethidine(DB01170)|Guanfacine(DB01018)|Halofantrine(DB01218)|Haloperidol(DB00502)|Halothane(DB01159)|Hexobarbital(DB01355)|Histamine Phosphate(DB00667)|Hydralazine(DB01275)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Ifosfamide(DB01181)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Imiquimod(DB00724)|Indacaterol(DB05039)|Indapamide(DB00808)|Indinavir(DB00224)|Ipratropium bromide(DB00332)|Irbesartan(DB01029)|Irinotecan(DB00762)|Isoniazid(DB00951)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ixabepilone(DB04845)|Josamycin(DB01321)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Levomethadyl Acetate(DB01227)|Levomilnacipran(DB08918)|Levonorgestrel(DB00367)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Lisuride(DB00589)|Lomitapide(DB08827)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Losartan(DB00678)|Lovastatin(DB00227)|LULICONAZOLE(DB08933)|Lumefantrine(DB06708)|Lurasidone(DB08815)|MACITENTAN(DB08932)|Maraviroc(DB04835)|Mebendazole(DB00643)|Medroxyprogesterone Acetate(DB00603)|Mefloquine(DB00358)|Meloxicam(DB00814)|Mequitazine(DB01071)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Methylergometrine(DB00353)|Methylprednisolone(DB00959)|Methyltestosterone(DB06710)|Metronidazole(DB00916)|Metyrapone(DB01011)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mirtazapine(DB00370)|Mitoxantrone(DB01204)|Modafinil(DB00745)|Montelukast(DB00471)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nafcillin(DB00607)|Naloxone(DB01183)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nitric Oxide(DB00435)|Norethindrone(DB00717)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Olopatadine(DB00768)|Omeprazole(DB00338)|Ondansetron(DB00904)|Orlistat(DB01083)|Orphenadrine(DB01173)|Ospemifene(DB04938)|Oxazepam(DB00842)|Oxcarbazepine(DB00776)|Oxiconazole(DB00239)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Paramethasone(DB01384)|Paricalcitol(DB00910)|Pazopanib(DB06589)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Pentobarbital(DB00312)|Perampanel(DB08883)|Pergolide(DB01186)|Perhexiline(DB01074)|Permethrin(DB04930)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenoxybenzamine(DB00925)|Phenprocoumon(DB00946)|Phenylbutazone(DB00812)|Phenytoin(DB00252)|Pilocarpine(DB01085)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Pipotiazine(DB01621)|Podofilox(DB01179)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prasugrel(DB06209)|Pravastatin(DB00175)|Prazepam(DB01588)|Praziquantel(DB01058)|Prednisolone(DB00860)|Prednisone(DB00635)|Primaquine(DB01087)|Primidone(DB00794)|Probenecid(DB01032)|Prochlorperazine(DB00433)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Pyrazinamide(DB00339)|Pyridostigmine(DB00545)|Quazepam(DB01589)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Quinupristin(DB01369)|Rabeprazole(DB01129)|Raloxifene(DB00481)|Ramelteon(DB00980)|Ranitidine(DB00863)|Ranolazine(DB00243)|Reboxetine(DB00234)|Regorafenib(DB08896)|Repaglinide(DB00912)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampicin(DB01045)|Rifapentine(DB01201)|Rifaximin(DB01220)|Rilpivirine(DB08864)|Rimonabant(DB06155)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Rivastigmine(DB00989)|Rolitetracycline(DB01301)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosuvastatin(DB01098)|Rotigotine(DB05271)|Roxithromycin(DB00778)|Rufinamide(DB06201)|Ruxolitinib(DB08877)|Salbutamol(DB01001)|Salmeterol(DB00938)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Selegiline(DB01037)|Sertindole(DB06144)|Sertraline(DB01104)|Sevoflurane(DB01236)|Sibutramine(DB01105)|Sildenafil(DB00203)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Sitaxentan(DB06268)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sufentanil(DB00708)|Sulfadiazine(DB00359)|Sulfamethoxazole(DB01015)|Sulfanilamide(DB00259)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Tamsulosin(DB00706)|Tasosartan(DB01349)|Telaprevir(DB05521)|Telithromycin(DB00976)|Temazepam(DB00231)|Temozolomide(DB00853)|Temsirolimus(DB06287)|Teniposide(DB00444)|Terbinafine(DB00857)|Testosterone(DB00624)|Tetracycline(DB00759)|Theophylline(DB00277)|Thiopental(DB00599)|Thiotepa(DB04572)|Tiagabine(DB00906)|Ticagrelor(DB08816)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tioconazole(DB01007)|Tiotropium(DB01409)|Tipranavir(DB00932)|Tofacitinib(DB08895)|Tofisopam(DB08811)|Tolterodine(DB01036)|Tolvaptan(DB06212)|Topiramate(DB00273)|Topotecan(DB01030)|Toremifene(DB00539)|Trabectedin(DB05109)|Tramadol(DB00193)|Trametinib(DB08911)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Tretinoin(DB00755)|Triamcinolone(DB00620)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Udenafil(DB06267)|Valproic Acid(DB00313)|Vandetanib(DB05294)|Vardenafil(DB00862)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Yohimbine(DB01392)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Zaleplon(DB00962)|Zidovudine(DB00495)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)|Zopiclone(DB01198)	GCCATCCCTTGACTCAACCTT	0.428																																																	0								ENSG00000160868						101.0	95.0	97.0					7																	99355784		2203	4300	6503	CYP3A4	SO:0001587	stop_gained	0			-	HGNC	AF280107	CCDS5674.1	7q21.1	2011-06-21	2003-01-14		ENSG00000160868	ENSG00000160868	1.1.1.161	"""Cytochrome P450s"""	2637	protein-coding gene	gene with protein product		124010	"""cytochrome P450, subfamily IIIA (niphedipine oxidase), polypeptide 4"""	CYP3A3		8269949, 1391968	Standard	NM_001202855		Approved		uc003urv.2	P08684	OTTHUMG00000156651	ENST00000336411.2:c.1484C>A	7.37:g.99355784G>T	ENSP00000337915:p.Ser495*	Somatic	0	39	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	55	11.29	P05184|Q16757|Q9UK50	Nonsense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_CYP3A,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B	p.S495*	ENST00000336411.2	37	c.1484	CCDS5674.1	7	.	.	.	.	.	.	.	.	.	.	G	13.85	2.360120	0.41801	.	.	ENSG00000160868	ENST00000354593;ENST00000336411	.	.	.	4.76	-1.72	0.08107	.	0.800601	0.11881	N	0.520531	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	.	6.6159	0.22776	0.3836:0.1195:0.4969:0.0	.	.	.	.	X	345;495	.	ENSP00000337915:S495X	S	-	2	0	CYP3A4	99193720	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	0.078000	0.14761	-0.309000	0.08779	-0.229000	0.12294	TCA	-	superfamily_Cyt_P450		0.428	CYP3A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP3A4	protein_coding	OTTHUMT00000345059.1	G		-		99355784	-1	no_errors	ENST00000336411	ensembl	human	known	74_37	nonsense	SNP	0.000	T
PROZ	8858	genome.wustl.edu	37	13	113826251	113826251	+	Silent	SNP	C	C	T			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr13:113826251C>T	ENST00000375547.2	+	8	1042	c.1035C>T	c.(1033-1035)agC>agT	p.S345S	PROZ_ENST00000342783.4_Silent_p.S367S	NM_003891.2	NP_003882.1	P22891	PROZ_HUMAN	protein Z, vitamin K-dependent plasma glycoprotein	345	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(2)|skin(2)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.216)	all cancers(43;0.104)		Menadione(DB00170)	AGAGAAGCAGCGTGGCGGCCA	0.622																																																	0								ENSG00000126231						50.0	49.0	49.0					13																	113826251		2203	4300	6503	PROZ	SO:0001819	synonymous_variant	0			-	HGNC	M55670	CCDS9531.1, CCDS58300.1	13q34	2008-07-18			ENSG00000126231	ENSG00000126231			9460	protein-coding gene	gene with protein product		176895				2244898, 2403355	Standard	NM_001256134		Approved	PZ	uc010agr.2	P22891	OTTHUMG00000017376	ENST00000375547.2:c.1035C>T	13.37:g.113826251C>T		Somatic	0	52	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	26	13.33	A6NMB4|Q15213|Q5JVF5|Q5JVF6	Silent	SNP	NA	NA	NA	NA	NA	NA	pirsf_Pept_S1A_FX,pfam_Peptidase_S1,pfam_GLA_domain,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_GLA_domain,smart_GLA_domain,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Peptidase_S1,prints_GLA_domain,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Peptidase_S1	p.S345	ENST00000375547.2	37	c.1035	CCDS9531.1	13																																																																																			-	pirsf_Pept_S1A_FX,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1		0.622	PROZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PROZ	protein_coding	OTTHUMT00000045845.1	C	NM_003891	-		113826251	+1	no_errors	ENST00000375547	ensembl	human	known	74_37	silent	SNP	0.000	T
HIVEP3	59269	genome.wustl.edu	37	1	41976281	41976281	+	Silent	SNP	A	A	G			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr1:41976281A>G	ENST00000372583.1	-	9	7947	c.7062T>C	c.(7060-7062)tcT>tcC	p.S2354S	HIVEP3_ENST00000372584.1_Silent_p.S2353S|HIVEP3_ENST00000247584.5_Silent_p.S2354S|HIVEP3_ENST00000429157.2_Silent_p.S2353S|HIVEP3_ENST00000460604.1_5'UTR	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	2354					positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GGCAGCCCACAGAGCTGCTGC	0.721																																																	0								ENSG00000127124						9.0	9.0	9.0					1																	41976281		2119	4157	6276	HIVEP3	SO:0001819	synonymous_variant	0			-	HGNC	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.7062T>C	1.37:g.41976281A>G		Somatic	0	48	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	18	25.00	A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S2354	ENST00000372583.1	37	c.7062	CCDS463.1	1																																																																																			-	NULL		0.721	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HIVEP3	protein_coding	OTTHUMT00000016978.1	A	NM_024503	-		41976281	-1	no_errors	ENST00000247584	ensembl	human	known	74_37	silent	SNP	0.168	G
IDUA	3425	genome.wustl.edu	37	4	995626	995626	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr4:995626G>T	ENST00000247933.4	+	6	837	c.749G>T	c.(748-750)gGg>gTg	p.G250V	IDUA_ENST00000514224.1_Missense_Mutation_p.G118V|IDUA_ENST00000453894.1_Missense_Mutation_p.G203V	NM_000203.3	NP_000194.2	P35475	IDUA_HUMAN	iduronidase, alpha-L-	250					carbohydrate metabolic process (GO:0005975)|cell morphogenesis (GO:0000902)|chemical homeostasis (GO:0048878)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate catabolic process (GO:0030209)|disaccharide metabolic process (GO:0005984)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|limb morphogenesis (GO:0035108)|lysosome organization (GO:0007040)|skeletal system morphogenesis (GO:0048705)|small molecule metabolic process (GO:0044281)	coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	L-iduronidase activity (GO:0003940)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			TTCTTCACTGGGGAGGCGGGC	0.721																																																	0								ENSG00000127415						13.0	14.0	14.0					4																	995626		2186	4275	6461	IDUA	SO:0001583	missense	0			-	HGNC	M74715	CCDS3343.1	4p16.3	2012-10-02			ENSG00000127415	ENSG00000127415	3.2.1.76		5391	protein-coding gene	gene with protein product		252800				1832239	Standard	NM_000203		Approved	MPS1	uc003gby.3	P35475	OTTHUMG00000088901	ENST00000247933.4:c.749G>T	4.37:g.995626G>T	ENSP00000247933:p.Gly250Val	Somatic	0	41	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	24	14.29	B3KWK6	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Glyco_hydro_39,superfamily_Glycoside_hydrolase_SF,superfamily_Fibronectin_type3,prints_Glyco_hydro_39	p.G203V	ENST00000247933.4	37	c.608	CCDS3343.1	4	.	.	.	.	.	.	.	.	.	.	G	16.83	3.231128	0.58777	.	.	ENSG00000127415	ENST00000247933;ENST00000453894;ENST00000502910;ENST00000514192;ENST00000514224	D;D;D;D;D	0.94138	-3.36;-3.36;-3.36;-3.36;-3.36	5.42	5.42	0.78866	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.96103	0.8730	M	0.80183	2.485	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.993	D	0.95641	0.8698	10	0.54805	T	0.06	-13.4716	10.1987	0.43071	0.0907:0.0:0.9093:0.0	.	203;250	B3KWK6;P35475	.;IDUA_HUMAN	V	250;203;203;189;118	ENSP00000247933:G250V;ENSP00000396458:G203V;ENSP00000422952:G203V;ENSP00000423685:G189V;ENSP00000425081:G118V	ENSP00000247933:G250V	G	+	2	0	IDUA	985626	1.000000	0.71417	0.113000	0.21522	0.162000	0.22319	9.446000	0.97590	2.564000	0.86499	0.555000	0.69702	GGG	-	pfam_Glyco_hydro_39,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_39		0.721	IDUA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	IDUA	protein_coding	OTTHUMT00000201812.1	G	NM_000203	-		995626	+1	no_errors	ENST00000453894	ensembl	human	known	74_37	missense	SNP	0.994	T
TUBA4A	7277	genome.wustl.edu	37	2	220115874	220115874	+	Missense_Mutation	SNP	C	C	G			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr2:220115874C>G	ENST00000248437.4	-	4	720	c.547G>C	c.(547-549)Gag>Cag	p.E183Q	TUBA4B_ENST00000490341.1_RNA|TUBA4A_ENST00000392088.2_Missense_Mutation_p.E168Q|TUBA4A_ENST00000498660.1_5'UTR	NM_006000.2	NP_005991.1	P68366	TBA4A_HUMAN	tubulin, alpha 4a	183					'de novo' posttranslational protein folding (GO:0051084)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	Cabazitaxel(DB06772)|Podofilox(DB01179)|Vincristine(DB00541)	TTGTAGGGCTCGACCACGGCT	0.557																																																	0								ENSG00000127824																																			TUBA4A	SO:0001583	missense	0			-	HGNC	AK054731	CCDS2438.1, CCDS63131.1	2q36.1	2012-10-02	2007-02-12	2007-02-12	ENSG00000127824	ENSG00000127824		"""Tubulins"""	12407	protein-coding gene	gene with protein product		191110	"""tubulin, alpha 1 (testis specific)"", ""tubulin, alpha 1"""	TUBA1		3785200	Standard	NM_006000		Approved	FLJ30169, H2-ALPHA	uc002vkt.1	P68366	OTTHUMG00000133126	ENST00000248437.4:c.547G>C	2.37:g.220115874C>G	ENSP00000248437:p.Glu183Gln	Somatic	0	75	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	36	26.53	A8MUB1|B3KNQ6|P05215	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Beta_tubulin,prints_Delta_tubulin	p.E183Q	ENST00000248437.4	37	c.547	CCDS2438.1	2	.	.	.	.	.	.	.	.	.	.	C	16.82	3.227468	0.58668	.	.	ENSG00000127824	ENST00000248437;ENST00000392088;ENST00000398989;ENST00000427737	T;T;T;T	0.69175	-0.38;-0.38;-0.38;-0.38	5.05	5.05	0.67936	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.85682	D	0.000000	D	0.84151	0.5409	M	0.85859	2.78	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86661	0.1904	10	0.87932	D	0	.	18.5898	0.91206	0.0:1.0:0.0:0.0	.	183	P68366	TBA4A_HUMAN	Q	183;168;30;168	ENSP00000248437:E183Q;ENSP00000375938:E168Q;ENSP00000396212:E30Q;ENSP00000408194:E168Q	ENSP00000248437:E183Q	E	-	1	0	TUBA4A	219824118	1.000000	0.71417	0.965000	0.40720	0.950000	0.60333	7.538000	0.82048	2.633000	0.89246	0.650000	0.86243	GAG	-	pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Tubulin,prints_Epsilon_tubulin		0.557	TUBA4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBA4A	protein_coding	OTTHUMT00000256816.3	C	NM_006000	-		220115874	-1	no_errors	ENST00000248437	ensembl	human	known	74_37	missense	SNP	1.000	G
BOD1	91272	genome.wustl.edu	37	5	173036274	173036274	+	Missense_Mutation	SNP	C	C	A			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr5:173036274C>A	ENST00000311086.4	-	3	749	c.526G>T	c.(526-528)Gac>Tac	p.D176Y	BOD1_ENST00000285908.5_Intron|BOD1_ENST00000480951.1_Intron|BOD1_ENST00000471339.1_5'Flank	NM_138369.2	NP_612378.1	Q96IK1	BOD1_HUMAN	biorientation of chromosomes in cell division 1	176					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|kinetochore (GO:0000776)				endometrium(1)|large_intestine(2)|lung(2)|ovary(2)	7						GCTGGAGGGTCCTGGCCTTCG	0.517																																																	0								ENSG00000145919						97.0	94.0	95.0					5																	173036274		2203	4300	6503	BOD1	SO:0001583	missense	0			-	HGNC	AY303777	CCDS4389.1, CCDS54951.1	5q35.2	2013-10-11	2009-03-04	2009-03-04	ENSG00000145919	ENSG00000145919			25114	protein-coding gene	gene with protein product	"""biorientation defective 1"""		"""family with sequence similarity 44, member B"""	FAM44B		17938248	Standard	NM_138369		Approved		uc003mcq.2	Q96IK1	OTTHUMG00000130540	ENST00000311086.4:c.526G>T	5.37:g.173036274C>A	ENSP00000309644:p.Asp176Tyr	Somatic	0	78	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	66	19.51	B4DXH8|Q9BTW1	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.D176Y	ENST00000311086.4	37	c.526	CCDS4389.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.7|23.7	4.443124|4.443124	0.83993|0.83993	.|.	.|.	ENSG00000145919|ENSG00000145919	ENST00000311086|ENST00000477985	.|.	.|.	.|.	5.86|5.86	4.98|4.98	0.66077|0.66077	.|.	0.156460|.	0.56097|.	D|.	0.000022|.	T|T	0.54464|0.54464	0.1860|0.1860	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	P|.	0.36789|.	0.57|.	B|.	0.36885|.	0.235|.	T|T	0.47341|0.47341	-0.9125|-0.9125	9|5	0.87932|.	D|.	0|.	-19.8745|-19.8745	14.3972|14.3972	0.67020|0.67020	0.0:0.9297:0.0:0.0703|0.0:0.9297:0.0:0.0703	.|.	176|.	Q96IK1|.	BOD1_HUMAN|.	Y|V	176|108	.|.	ENSP00000309644:D176Y|.	D|G	-|-	1|2	0|0	BOD1|BOD1	172968880|172968880	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.928000|0.928000	0.56348|0.56348	5.356000|5.356000	0.66052|0.66052	2.778000|2.778000	0.95560|0.95560	0.655000|0.655000	0.94253|0.94253	GAC|GGA	-	NULL		0.517	BOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BOD1	protein_coding	OTTHUMT00000252963.1	C	NM_138369	-		173036274	-1	no_errors	ENST00000311086	ensembl	human	known	74_37	missense	SNP	1.000	A
SCFD2	152579	genome.wustl.edu	37	4	53822220	53822220	+	Intron	SNP	T	T	C			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr4:53822220T>C	ENST00000401642.3	-	6	1695				SCFD2_ENST00000388940.4_Intron|RP11-752D24.2_ENST00000508813.1_RNA	NM_152540.3	NP_689753.2	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2						protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)					breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			GAGAAAGCTATGGGGGTCCCA	0.512																																																	0								ENSG00000248115																																			RP11-752D24.2	SO:0001627	intron_variant	0			-	Clone_based_vega_gene	AY299407	CCDS33984.1	4q12	2004-01-15			ENSG00000184178	ENSG00000184178			30676	protein-coding gene	gene with protein product						12477932	Standard	NM_152540		Approved	STXBP1L1, FLJ39514	uc003gzu.3	Q8WU76	OTTHUMG00000160588	ENST00000401642.3:c.1562-35183A>G	4.37:g.53822220T>C		Somatic	0	44	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	33	29.79	Q8N5F3|Q8N8H0|Q96ED3	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000401642.3	37	NULL	CCDS33984.1	4																																																																																			-	-		0.512	SCFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000248115	protein_coding	OTTHUMT00000361311.3	T	NM_152540	-		53822220	+1	no_errors	ENST00000508813	ensembl	human	known	74_37	rna	SNP	0.000	C
MROH2B	133558	genome.wustl.edu	37	5	41005734	41005734	+	Missense_Mutation	SNP	A	A	T			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr5:41005734A>T	ENST00000399564.4	-	35	4213	c.3763T>A	c.(3763-3765)Tgg>Agg	p.W1255R	MROH2B_ENST00000506092.2_Missense_Mutation_p.W810R	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	1255																	CCGTGTTGCCACACTGCCATG	0.443																																																	0								ENSG00000171495						66.0	68.0	67.0					5																	41005734		2041	4209	6250	MROH2B	SO:0001583	missense	0			-	HGNC		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.3763T>A	5.37:g.41005734A>T	ENSP00000382476:p.Trp1255Arg	Somatic	0	72	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	59	19.18	Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	superfamily_ARM-type_fold	p.W1255R	ENST00000399564.4	37	c.3763	CCDS47202.1	5	.	.	.	.	.	.	.	.	.	.	A	18.72	3.683765	0.68157	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	T;T	0.01295	5.04;5.29	6.15	6.15	0.99193	Armadillo-type fold (1);	0.221387	0.32852	N	0.005562	T	0.02533	0.0077	L	0.54323	1.7	0.38926	D	0.957844	B	0.32968	0.392	B	0.36766	0.232	T	0.61377	-0.7075	10	0.25106	T	0.35	.	13.1804	0.59651	1.0:0.0:0.0:0.0	.	1255	Q7Z745	HTRB2_HUMAN	R	810;960;1255	ENSP00000441504:W810R;ENSP00000382476:W1255R	ENSP00000296803:W960R	W	-	1	0	HEATR7B2	41041491	0.986000	0.35501	1.000000	0.80357	0.966000	0.64601	2.786000	0.47790	2.363000	0.80096	0.523000	0.50628	TGG	-	superfamily_ARM-type_fold		0.443	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MROH2B	protein_coding	OTTHUMT00000367558.2	A	NM_173489	-		41005734	-1	no_errors	ENST00000399564	ensembl	human	known	74_37	missense	SNP	0.999	T
SNED1	25992	genome.wustl.edu	37	2	241979560	241979561	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	GT	GT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr2:241979560_241979561delGT	ENST00000310397.8	+	7	1114_1115	c.1114_1115delGT	c.(1114-1116)gtgfs	p.V372fs	AC005237.4_ENST00000458377.1_RNA|SNED1_ENST00000342631.6_Frame_Shift_Del_p.V372fs|SNED1_ENST00000401884.1_Frame_Shift_Del_p.V372fs|SNED1_ENST00000405547.3_Frame_Shift_Del_p.V372fs	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	372	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.|Follistatin-like 1.				cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		TGGCTCTGCGGTGTGTGTGTGC	0.624																																																	0								ENSG00000162804																																			SNED1	SO:0001589	frameshift_variant	0				HGNC	AK074062	CCDS46562.1	2q37.3	2014-01-28			ENSG00000162804	ENSG00000162804		"""Fibronectin type III domain containing"""	24696	protein-coding gene	gene with protein product						12477932	Standard	NM_001080437		Approved	FLJ00133, SST3, Snep	uc002wah.1	Q8TER0	OTTHUMG00000151803	ENST00000310397.8:c.1114_1115delGT	2.37:g.241979568_241979569delGT	ENSP00000308893:p.Val372fs	Somatic	0	77	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	39	9.30	B5MDC3|B7WNK6|B7WPM0|Q336F4|Q336F5|Q8N369|Q8TEP7	Frame_Shift_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_EG-like_dom,pfam_Fibronectin_type3,pfam_Nidogen_extracell_dom,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_Fibronectin_type3,superfamily_Sushi_SCR_CCP,smart_Nidogen_extracell_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Sushi_SCR_CCP,smart_Fibronectin_type3,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Sushi_SCR_CCP	p.C375fs	ENST00000310397.8	37	c.1114_1115	CCDS46562.1	2																																																																																			-	smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom		0.624	SNED1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SNED1	protein_coding	OTTHUMT00000323935.2	GT	XM_059482			241979561	+1	no_errors	ENST00000310397	ensembl	human	known	74_37	frame_shift_del	DEL	0.354:0.362	-
LOC285556	285556	genome.wustl.edu	37	4	100574194	100574194	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr4:100574194C>T	ENST00000511828.1	-	1	1611	c.1612G>A	c.(1612-1614)Gca>Aca	p.A538T																								TTTTGCTTTGCACGCACGTTG	0.532																																																	0								ENSG00000248713																																			RP11-766F14.2	SO:0001583	missense	0			-	Clone_based_vega_gene																												ENST00000511828.1:c.1612G>A	4.37:g.100574194C>T	ENSP00000427555:p.Ala538Thr	Somatic	0	55	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	13	71.74		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.A538T	ENST00000511828.1	37	c.1612		4	.	.	.	.	.	.	.	.	.	.	C	16.56	3.156219	0.57259	.	.	ENSG00000248713	ENST00000511828	T	0.19669	2.13	4.79	4.79	0.61399	.	.	.	.	.	T	0.19366	0.0465	N	0.14661	0.345	.	.	.	.	.	.	.	.	.	T	0.22871	-1.0204	6	0.62326	D	0.03	.	12.8123	0.57647	0.0:0.9217:0.0:0.0783	.	.	.	.	T	538	ENSP00000427555:A538T	ENSP00000427555:A538T	A	-	1	0	RP11-766F14.2	100793217	0.995000	0.38212	1.000000	0.80357	0.998000	0.95712	2.753000	0.47524	2.648000	0.89879	0.650000	0.86243	GCA	-	NULL		0.532	RP11-766F14.2-001	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	LOC285556	protein_coding	OTTHUMT00000365456.1	C		-		100574194	-1	no_errors	ENST00000511828	ensembl	human	putative	74_37	missense	SNP	1.000	T
SLCO5A1	81796	genome.wustl.edu	37	8	70650332	70650332	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr8:70650332G>T	ENST00000260126.4	-	5	2072	c.1366C>A	c.(1366-1368)Ccc>Acc	p.P456T	SLCO5A1_ENST00000524945.1_Missense_Mutation_p.P456T|SLCO5A1_ENST00000530307.1_Intron	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	456						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			ATGAACTTGGGAATGAAGGTA	0.448																																																	0								ENSG00000137571						182.0	158.0	166.0					8																	70650332		2203	4300	6503	SLCO5A1	SO:0001583	missense	0			-	HGNC	AF205075	CCDS6205.1, CCDS55242.1, CCDS55243.1	8q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000137571	ENSG00000137571		"""Solute carriers"""	19046	protein-coding gene	gene with protein product		613543	"""solute carrier family 21 (organic anion transporter), member 15"""	SLC21A15		12507753	Standard	NM_030958		Approved	OATPRP4, OATP-J, OATP5A1	uc003xyl.3	Q9H2Y9	OTTHUMG00000165121	ENST00000260126.4:c.1366C>A	8.37:g.70650332G>T	ENSP00000260126:p.Pro456Thr	Somatic	0	43	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	37	11.90	A4QPC2|B2RPF7|B3KMU7|E9PKK5|G3V1C0	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.P456T	ENST00000260126.4	37	c.1366	CCDS6205.1	8	.	.	.	.	.	.	.	.	.	.	G	27.3	4.822687	0.90873	.	.	ENSG00000137571	ENST00000260126;ENST00000524945	T;T	0.65549	-0.16;-0.16	5.81	5.81	0.92471	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.81550	0.4846	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	T	0.81720	-0.0804	10	0.54805	T	0.06	.	20.0784	0.97758	0.0:0.0:1.0:0.0	.	456;456	Q9H2Y9;G3V1C0	SO5A1_HUMAN;.	T	456	ENSP00000260126:P456T;ENSP00000434422:P456T	ENSP00000260126:P456T	P	-	1	0	SLCO5A1	70812886	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.863000	0.99569	2.736000	0.93811	0.655000	0.94253	CCC	-	pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter		0.448	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO5A1	protein_coding	OTTHUMT00000381990.3	G	NM_030958	-		70650332	-1	no_errors	ENST00000260126	ensembl	human	known	74_37	missense	SNP	1.000	T
PKHD1	5314	genome.wustl.edu	37	6	51612752	51612752	+	Missense_Mutation	SNP	G	G	A	rs145141656	byFrequency	TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr6:51612752G>A	ENST00000371117.3	-	58	9937	c.9662C>T	c.(9661-9663)cCg>cTg	p.P3221L	PKHD1_ENST00000340994.4_Missense_Mutation_p.P3221L	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3221					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GGCTGAGTGCGGCTTCACTTT	0.463													G|||	3	0.000599042	0.0	0.0	5008	,	,		18978	0.002		0.0	False		,,,				2504	0.001																0								ENSG00000170927	G	LEU/PRO,LEU/PRO	0,4406		0,0,2203	111.0	110.0	111.0		9662,9662	5.8	0.5	6	dbSNP_134	111	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	PKHD1	NM_138694.3,NM_170724.2	98,98	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	3221/4075,3221/3397	51612752	1,13005	2203	4300	6503	PKHD1	SO:0001583	missense	0			GMAF=0.0005	HGNC	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.9662C>T	6.37:g.51612752G>A	ENSP00000360158:p.Pro3221Leu	Somatic	0	43	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	28	39.13	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_IPT,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT,smart_PbH1	p.P3221L	ENST00000371117.3	37	c.9662	CCDS4935.1	6	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	18.17	3.565219	0.65651	0.0	1.16E-4	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.88354	-2.19;-2.37	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	D	0.93096	0.7802	M	0.72118	2.19	0.58432	D	0.999991	D;D;D	0.89917	1.0;0.977;0.999	D;P;D	0.71414	0.973;0.787;0.947	D	0.91950	0.5570	10	0.45353	T	0.12	.	18.9315	0.92568	0.0:0.0:1.0:0.0	.	3221;3221;3221	A8MVM9;P08F94-2;P08F94	.;.;PKHD1_HUMAN	L	3221	ENSP00000360158:P3221L;ENSP00000341097:P3221L	ENSP00000341097:P3221L	P	-	2	0	PKHD1	51720711	1.000000	0.71417	0.485000	0.27403	0.621000	0.37620	6.432000	0.73400	2.716000	0.92895	0.655000	0.94253	CCG	-	NULL		0.463	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKHD1	protein_coding	OTTHUMT00000040893.1	G	NM_138694	rs145141656		51612752	-1	no_errors	ENST00000371117	ensembl	human	known	74_37	missense	SNP	0.988	A
KRT6A	3853	genome.wustl.edu	37	12	52886582	52886582	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr12:52886582G>A	ENST00000330722.6	-	1	459	c.391C>T	c.(391-393)Ccc>Tcc	p.P131S		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	131	Head.				cell differentiation (GO:0030154)|positive regulation of cell proliferation (GO:0008284)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		CCTCCAGGGGGGCACACAGGG	0.637																																																	0								ENSG00000205420						56.0	54.0	55.0					12																	52886582		2203	4296	6499	KRT6A	SO:0001583	missense	0			-	HGNC	BC014152, L42593, L42610	CCDS41786.1	12q13.13	2013-01-16			ENSG00000205420	ENSG00000205420		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6443	protein-coding gene	gene with protein product		148041	"""keratin 6C"", ""keratin 6D"""	KRT6C, KRT6D		1713141, 16831889	Standard	NM_005554		Approved	CK6C, K6C, CK6D, K6D	uc001sam.3	P02538	OTTHUMG00000169597	ENST00000330722.6:c.391C>T	12.37:g.52886582G>A	ENSP00000369317:p.Pro131Ser	Somatic	0	100	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	84	15.15	A4QPC1|P48667|Q08AR4|Q6NT67|Q96CL4	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_IF,superfamily_Prefoldin,prints_Keratin_II	p.P131S	ENST00000330722.6	37	c.391	CCDS41786.1	12	.	.	.	.	.	.	.	.	.	.	G	19.11	3.763584	0.69878	.	.	ENSG00000205420	ENST00000330722;ENST00000452121	D	0.84730	-1.89	5.24	5.24	0.73138	.	0.100557	0.44285	N	0.000461	D	0.91503	0.7317	M	0.81112	2.525	0.35032	D	0.758871	D	0.63880	0.993	D	0.69307	0.963	D	0.94387	0.7610	10	0.62326	D	0.03	.	12.6041	0.56513	0.0763:0.0:0.9237:0.0	.	131	P02538	K2C6A_HUMAN	S	131;87	ENSP00000369317:P131S	ENSP00000369317:P131S	P	-	1	0	KRT6A	51172849	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.098000	0.64548	2.626000	0.88956	0.549000	0.68633	CCC	-	NULL		0.637	KRT6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT6A	protein_coding	OTTHUMT00000404978.2	G	NM_005554	-		52886582	-1	no_errors	ENST00000330722	ensembl	human	known	74_37	missense	SNP	1.000	A
KCNQ4	9132	genome.wustl.edu	37	1	41304460	41304460	+	3'UTR	SNP	G	G	T			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr1:41304460G>T	ENST00000347132.5	+	0	2435				KCNQ4_ENST00000506017.1_3'UTR	NM_004700.3|NM_172163.2	NP_004691.2|NP_751895.1	P56696	KCNQ4_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 4						inner ear morphogenesis (GO:0042472)|potassium ion transport (GO:0006813)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)		Ezogabine(DB04953)	CCAGTGCCCTGCCCACTCCAT	0.731																																																	0								ENSG00000117013																																			KCNQ4	SO:0001624	3_prime_UTR_variant	0			-	HGNC	AF105202	CCDS456.1	1p34	2012-07-05			ENSG00000117013	ENSG00000117013		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6298	protein-coding gene	gene with protein product		603537		DFNA2		10025409, 16382104	Standard	NM_004700		Approved	Kv7.4	uc001cgh.2	P56696	OTTHUMG00000007730	ENST00000347132.5:c.*265G>T	1.37:g.41304460G>T		Somatic	0	32	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	15	42.31	O96025	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000347132.5	37	NULL	CCDS456.1	1																																																																																			-	-		0.731	KCNQ4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KCNQ4	protein_coding	OTTHUMT00000020812.1	G	NM_004700	-		41304460	+1	no_errors	ENST00000506017	ensembl	human	known	74_37	rna	SNP	0.354	T
PIEZO1	9780	genome.wustl.edu	37	16	88800395	88800395	+	Missense_Mutation	SNP	C	C	G	rs144777557|rs144269709|rs202139830	byFrequency	TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr16:88800395C>G	ENST00000301015.9	-	17	2494	c.2248G>C	c.(2248-2250)Gag>Cag	p.E750Q	RP5-1142A6.2_ENST00000440406.2_RNA|RP5-1142A6.2_ENST00000567968.1_RNA	NM_001142864.2	NP_001136336.2	Q92508	PIEZ1_HUMAN	piezo-type mechanosensitive ion channel component 1	750				Missing (in Ref. 3; BAA13240 and 4; AAI50272). {ECO:0000305}.	cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|detection of mechanical stimulus (GO:0050982)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|positive regulation of integrin activation (GO:0033625)|regulation of membrane potential (GO:0042391)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|prostate(2)|skin(1)	10						tcctcctcctcctgctgctgc	0.667													c|||	215	0.0429313	0.1422	0.0144	5008	,	,		18034	0.002		0.005	False		,,,				2504	0.0102																0								ENSG00000103335						8.0	11.0	10.0					16																	88800395		685	1579	2264	PIEZO1	SO:0001583	missense	0			-	HGNC	D87071	CCDS54058.1	16q24.3	2011-08-31	2011-08-31	2011-08-31	ENSG00000103335	ENSG00000103335			28993	protein-coding gene	gene with protein product		611184	"""family with sequence similarity 38, member A"""	FAM38A		20813920, 21056836, 21299953, 21696149	Standard	NM_001142864		Approved	KIAA0233	uc010vpb.2	Q92508	OTTHUMG00000156776	ENST00000301015.9:c.2248G>C	16.37:g.88800395C>G	ENSP00000301015:p.Glu750Gln	Somatic	0	43	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	15	21.05	A6NHT9|A7E2B7|Q0KKZ9	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Piezo	p.E750Q	ENST00000301015.9	37	c.2248	CCDS54058.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	1.314|1.314	-0.601304|-0.601304	0.03744|0.03744	.|.	.|.	ENSG00000103335|ENSG00000103335	ENST00000301015|ENST00000451779	T|.	0.42513|.	0.97|.	0.95|0.95	-0.894|-0.894	0.10563|0.10563	.|.	6.054080|.	0.02478|.	U|.	0.088226|.	T|T	0.24928|0.24928	0.0605|0.0605	L|L	0.32530|0.32530	0.975|0.975	0.22851|0.22851	N|N	0.998657|0.998657	B|.	0.02656|.	0.0|.	B|.	0.04013|.	0.001|.	T|T	0.28808|0.28808	-1.0032|-1.0032	10|5	0.14252|.	T|.	0.57|.	.|.	4.7743|4.7743	0.13171|0.13171	0.0:0.5999:0.4001:0.0|0.0:0.5999:0.4001:0.0	.|.	750|.	Q92508|.	PIEZ1_HUMAN|.	Q|A	750|695	ENSP00000301015:E750Q|.	ENSP00000301015:E750Q|.	E|G	-|-	1|2	0|0	FAM38A|FAM38A	87327896|87327896	0.001000|0.001000	0.12720|0.12720	0.479000|0.479000	0.27329|0.27329	0.108000|0.108000	0.19459|0.19459	0.550000|0.550000	0.23345|0.23345	-0.003000|-0.003000	0.14444|0.14444	0.000000|0.000000	0.15137|0.15137	GAG|GGA	-	NULL		0.667	PIEZO1-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	PIEZO1	protein_coding	OTTHUMT00000345699.4	C	NM_014745	rs202139830		88800395	-1	no_errors	ENST00000301015	ensembl	human	novel	74_37	missense	SNP	0.340	G
BCAM	4059	genome.wustl.edu	37	19	45322125	45322125	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr19:45322125C>T	ENST00000270233.6	+	10	1344	c.1322C>T	c.(1321-1323)aCg>aTg	p.T441M	BCAM_ENST00000589651.1_Missense_Mutation_p.T441M	NM_001013257.2|NM_005581.4	NP_001013275.1|NP_005572.2	P50895	BCAM_HUMAN	basal cell adhesion molecule (Lutheran blood group)	441	Ig-like C2-type 2.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	laminin binding (GO:0043236)|laminin receptor activity (GO:0005055)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				CAGAACTTCACGCTGCTGGTC	0.607																																																	0								ENSG00000187244						54.0	54.0	54.0					19																	45322125		2202	4300	6502	BCAM	SO:0001583	missense	0			-	HGNC	X83425	CCDS12644.1, CCDS42575.1	19q12-q13	2014-07-18	2006-02-23	2006-01-12		ENSG00000187244		"""CD molecules"", ""Blood group antigens"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6722	protein-coding gene	gene with protein product		612773	"""Lutheran blood group (Auberger b antigen included)"", ""basal cell adhesion molecule (Lu and Au blood groups)"""	LU			Standard	NM_005581		Approved	CD239	uc002ozu.4	P50895		ENST00000270233.6:c.1322C>T	19.37:g.45322125C>T	ENSP00000270233:p.Thr441Met	Somatic	0	41	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	28	12.50	A8MYF9|A9YWT5|A9YWT6|Q86VC7	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.T441M	ENST00000270233.6	37	c.1322	CCDS12644.1	19	.	.	.	.	.	.	.	.	.	.	.	11.35	1.611593	0.28712	.	.	ENSG00000187244	ENST00000270233;ENST00000391955	T;T	0.10382	2.88;2.88	4.6	-3.37	0.04898	Immunoglobulin-like (1);	.	.	.	.	T	0.05960	0.0155	L	0.29908	0.895	0.27245	N	0.959055	B	0.23249	0.082	B	0.12156	0.007	T	0.34304	-0.9834	9	0.46703	T	0.11	-3.8766	1.9123	0.03290	0.3656:0.1487:0.3518:0.1339	.	441	P50895	BCAM_HUMAN	M	441	ENSP00000270233:T441M;ENSP00000375817:T441M	ENSP00000270233:T441M	T	+	2	0	BCAM	50013965	0.019000	0.18553	0.708000	0.30435	0.383000	0.30230	-0.283000	0.08433	-1.140000	0.02877	-0.500000	0.04577	ACG	-	smart_Ig_sub,pfscan_Ig-like_dom		0.607	BCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCAM	protein_coding	OTTHUMT00000453220.1	C	NM_005581	-		45322125	+1	no_errors	ENST00000270233	ensembl	human	known	74_37	missense	SNP	0.577	T
SGOL1	151648	genome.wustl.edu	37	3	20216050	20216050	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr3:20216050delT	ENST00000263753.4	-	6	1112	c.973delA	c.(973-975)atgfs	p.M325fs	SGOL1_ENST00000383774.1_Intron|SGOL1_ENST00000437051.1_Intron|SGOL1_ENST00000452020.1_Intron|SGOL1_ENST00000412997.1_Frame_Shift_Del_p.M325fs|SGOL1_ENST00000419233.2_Intron|SGOL1-AS1_ENST00000441442.1_RNA|SGOL1_ENST00000443724.1_Intron|SGOL1_ENST00000425061.1_Intron|SGOL1_ENST00000442720.1_Intron|SGOL1_ENST00000412868.1_Frame_Shift_Del_p.M325fs|SGOL1-AS1_ENST00000448208.1_RNA|SGOL1_ENST00000417364.1_Intron|SGOL1_ENST00000421451.1_Frame_Shift_Del_p.M325fs|SGOL1_ENST00000306698.2_Intron|SGOL1_ENST00000429446.3_Intron	NM_001012410.3|NM_001199252.1	NP_001012410.1|NP_001186181.1	Q5FBB7	SGOL1_HUMAN	shugoshin-like 1 (S. pombe)	325					attachment of spindle microtubules to kinetochore (GO:0008608)|centriole-centriole cohesion (GO:0010457)|chromosome segregation (GO:0007059)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|chromosome, centromeric region (GO:0000775)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)|spindle pole (GO:0000922)	kinase binding (GO:0019900)			kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2)	14						GATTTGTGCATTTTTTTTTGG	0.318																																																	0								ENSG00000129810		,,,,,,,,,,,,	14,120,4132		0,0,14,3,114,2002	70.0	63.0	66.0		,,,,,,,,,,,,	5.7	0.0	3		66	39,47,8168		0,0,39,0,47,4041	no	intron,intron,intron,intron,intron,intron,codingComplex,codingComplex,intron,intron,intron,codingComplex,codingComplex	SGOL1	NM_138484.3,NM_001199257.1,NM_001199256.1,NM_001199255.1,NM_001199254.1,NM_001199253.1,NM_001199252.1,NM_001199251.1,NM_001012413.2,NM_001012412.3,NM_001012411.2,NM_001012410.3,NM_001012409.2	,,,,,,,,,,,,	0,0,53,3,161,6043	A1A1,A1A2,A1R,A2A2,A2R,RR		1.0419,3.1411,1.7572	,,,,,,,,,,,,	,,,,,,,,,,,,	20216050	53,167,12300	2203	4300	6503	SGOL1	SO:0001589	frameshift_variant	0				HGNC	BC001339	CCDS2635.1, CCDS33716.1, CCDS46771.1, CCDS46772.1, CCDS46773.1, CCDS46774.1, CCDS56243.1	3p24.3	2005-07-27			ENSG00000129810	ENSG00000129810			25088	protein-coding gene	gene with protein product		609168				12747765	Standard	NM_001199251		Approved	NY-BR-85	uc003cbu.3	Q5FBB7	OTTHUMG00000130479	ENST00000263753.4:c.973delA	3.37:g.20216050delT	ENSP00000263753:p.Met325fs	Somatic	0	27	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	23	8.00	Q588H5|Q5FBB4|Q5FBB5|Q5FBB6|Q5FBB8|Q8N579|Q8WVL0|Q9BVA8|Q9H275	Frame_Shift_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_Shugoshin_N,pfam_Shugoshin_C	p.M325fs	ENST00000263753.4	37	c.973	CCDS33716.1	3																																																																																			-	NULL		0.318	SGOL1-009	KNOWN	basic|CCDS	protein_coding	SGOL1	protein_coding	OTTHUMT00000340498.1	T	NM_138484			20216050	-1	no_errors	ENST00000263753	ensembl	human	known	74_37	frame_shift_del	DEL	0.000	-
MUC4	4585	genome.wustl.edu	37	3	195509808	195509808	+	Silent	SNP	A	A	G			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr3:195509808A>G	ENST00000463781.3	-	2	9102	c.8643T>C	c.(8641-8643)ctT>ctC	p.L2881L	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Silent_p.L2881L|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CGGTGACAGGAAGAGGGGTGG	0.592																																																	0								ENSG00000145113						16.0	15.0	15.0					3																	195509808		673	1556	2229	MUC4	SO:0001819	synonymous_variant	0			-	HGNC	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.8643T>C	3.37:g.195509808A>G		Somatic	0	219	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	58	113	33.92	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom	p.L2881	ENST00000463781.3	37	c.8643	CCDS54700.1	3																																																																																			-	NULL		0.592	MUC4-001	KNOWN	basic|CCDS	protein_coding	MUC4	protein_coding	OTTHUMT00000324081.6	A	NM_018406	-		195509808	-1	no_errors	ENST00000463781	ensembl	human	known	74_37	silent	SNP	0.086	G
MACROD1	28992	genome.wustl.edu	37	11	63766430	63766430	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr11:63766430C>T	ENST00000255681.6	-	9	1036	c.970G>A	c.(970-972)Gtg>Atg	p.V324M	OTUB1_ENST00000535715.1_Intron	NM_014067.3	NP_054786.2	Q9BQ69	MACD1_HUMAN	MACRO domain containing 1	324					cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798)			breast(1)|large_intestine(3)|lung(6)|skin(1)	11						cACGTACCCACGGGGAAGTAG	0.716																																																	0								ENSG00000133315						14.0	17.0	16.0					11																	63766430		2128	4144	6272	MACROD1	SO:0001583	missense	0			-	HGNC	AF202922	CCDS8056.1	11q13.1	2007-07-24	2007-06-11		ENSG00000133315	ENSG00000133315			29598	protein-coding gene	gene with protein product		610400				15691879	Standard	NM_014067		Approved	LRP16	uc001nyh.3	Q9BQ69	OTTHUMG00000167843	ENST00000255681.6:c.970G>A	11.37:g.63766430C>T	ENSP00000255681:p.Val324Met	Somatic	0	17	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	7	30.00	Q9UH96	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Macro_dom,smart_Macro_dom,pfscan_Macro_dom	p.V324M	ENST00000255681.6	37	c.970	CCDS8056.1	11	.	.	.	.	.	.	.	.	.	.	C	9.736	1.163597	0.21538	.	.	ENSG00000133315	ENST00000255681	T	0.24151	1.87	3.63	2.67	0.31697	.	0.749330	0.11095	U	0.600360	T	0.16811	0.0404	N	0.21097	0.63	0.09310	N	1	B	0.24618	0.107	B	0.06405	0.002	T	0.17623	-1.0363	10	0.56958	D	0.05	-6.6022	8.8881	0.35416	0.0:0.7697:0.2303:0.0	.	324	Q9BQ69	MACD1_HUMAN	M	324	ENSP00000255681:V324M	ENSP00000255681:V324M	V	-	1	0	MACROD1	63523006	0.001000	0.12720	0.047000	0.18901	0.458000	0.32498	0.086000	0.14935	0.834000	0.34852	0.462000	0.41574	GTG	-	NULL		0.716	MACROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MACROD1	protein_coding	OTTHUMT00000396570.1	C	NM_014067	-		63766430	-1	no_errors	ENST00000255681	ensembl	human	known	74_37	missense	SNP	0.130	T
LOC101928327	101928327	genome.wustl.edu	37	2	217735202	217735202	+	5'Flank	DEL	A	A	-	rs574922656|rs12995765|rs200965461|rs59237513	byFrequency	TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr2:217735202delA	ENST00000456163.1	+	0	0				AC007563.1_ENST00000418591.1_RNA|AC007557.2_ENST00000421907.1_RNA|AC007563.5_ENST00000607591.1_RNA|AC007563.5_ENST00000447289.1_RNA|AC007557.3_ENST00000451711.1_lincRNA																							GTTATTCTTTAAAAAAAAAAA	0.333																																																	0								ENSG00000236295																																			AC007563.1	SO:0001631	upstream_gene_variant	0				Clone_based_vega_gene																													2.37:g.217735202delA	Exception_encountered	Somatic	0	9	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	6	33.33		RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000456163.1	37	NULL		2																																																																																			-	-		0.333	AC007557.1-001	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	ENSG00000236295	protein_coding	OTTHUMT00000339424.1	A				217735202	-1	no_errors	ENST00000418591	ensembl	human	known	74_37	rna	DEL	0.002	-
TM9SF2	9375	genome.wustl.edu	37	13	100172383	100172383	+	Splice_Site	SNP	G	G	T			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr13:100172383G>T	ENST00000376387.4	+	3	523	c.333G>T	c.(331-333)aaG>aaT	p.K111N	TM9SF2_ENST00000463709.1_3'UTR	NM_004800.1	NP_004791.1	Q99805	TM9S2_HUMAN	transmembrane 9 superfamily member 2	111					transport (GO:0006810)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)	17	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)					CACCATATAAGGTTTGTATTT	0.363																																																	0								ENSG00000125304						59.0	59.0	59.0					13																	100172383		2203	4300	6503	TM9SF2	SO:0001630	splice_region_variant	0			-	HGNC	U81006	CCDS9493.1	13q32.2	2011-03-28			ENSG00000125304	ENSG00000125304			11865	protein-coding gene	gene with protein product		604678				9729438	Standard	NM_004800		Approved	P76	uc001voj.2	Q99805	OTTHUMG00000017272	ENST00000376387.4:c.333+1G>T	13.37:g.100172383G>T		Somatic	0	42	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	18	14.29	A8K399|Q2TAY5	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_EMP70	p.K111N	ENST00000376387.4	37	c.333	CCDS9493.1	13	.	.	.	.	.	.	.	.	.	.	G	15.45	2.838508	0.51057	.	.	ENSG00000125304	ENST00000376387	T	0.49720	0.77	5.75	5.75	0.90469	.	0.042078	0.85682	D	0.000000	T	0.43188	0.1236	L	0.37466	1.105	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.12837	0.002;0.008	T	0.14755	-1.0461	10	0.33940	T	0.23	-14.6296	19.9911	0.97363	0.0:0.0:1.0:0.0	.	111;111	E9PHW5;Q99805	.;TM9S2_HUMAN	N	111	ENSP00000365567:K111N	ENSP00000365567:K111N	K	+	3	2	TM9SF2	98970384	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.083000	0.89515	2.734000	0.93682	0.585000	0.79938	AAG	-	pfam_EMP70		0.363	TM9SF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TM9SF2	protein_coding	OTTHUMT00000045602.3	G		-	Missense_Mutation	100172383	+1	no_errors	ENST00000376387	ensembl	human	known	74_37	missense	SNP	1.000	T
SLC25A48	153328	genome.wustl.edu	37	5	135188365	135188365	+	Silent	SNP	C	C	T	rs368023667		TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr5:135188365C>T	ENST00000420621.1	+	4	448	c.276C>T	c.(274-276)tgC>tgT	p.C92C	SLC25A48_ENST00000425402.1_Intron|SLC25A48_ENST00000433282.2_Silent_p.C38C|SLC25A48_ENST00000412661.2_Silent_p.C92C|SLC25A48_ENST00000274513.5_Silent_p.C92C			Q6ZT89	S2548_HUMAN	solute carrier family 25, member 48	92					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						AGCACCGCTGCGGGGAGCCAG	0.667													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17722	0.0		0.0	False		,,,				2504	0.0																0								ENSG00000145832						58.0	69.0	65.0					5																	135188365		1946	4122	6068	SLC25A48	SO:0001819	synonymous_variant	0			-	HGNC		CCDS43366.2	5q31.1	2013-05-22			ENSG00000145832	ENSG00000145832		"""Solute carriers"""	30451	protein-coding gene	gene with protein product	"""HCC-down-regulated mitochondrial carrier protein"""					15322095, 19303656	Standard	NM_145282		Approved	FLJ44862, HDMCP	uc003lba.3	Q6ZT89	OTTHUMG00000157007	ENST00000420621.1:c.276C>T	5.37:g.135188365C>T		Somatic	0	38	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	19	50.00	Q8TAV9	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	p.C92	ENST00000420621.1	37	c.276		5																																																																																			-	superfamily_Mt_carrier_dom		0.667	SLC25A48-201	KNOWN	basic|appris_principal	protein_coding	SLC25A48	protein_coding		C	NM_145282	-		135188365	+1	no_errors	ENST00000420621	ensembl	human	known	74_37	silent	SNP	0.862	T
MAP3K4	4216	genome.wustl.edu	37	6	161530923	161530923	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr6:161530923G>A	ENST00000392142.4	+	23	4521	c.4373G>A	c.(4372-4374)gGc>gAc	p.G1458D	MAP3K4_ENST00000366920.2_Missense_Mutation_p.G1454D|MAP3K4_ENST00000348824.7_Missense_Mutation_p.G1404D|MAP3K4_ENST00000366919.2_Missense_Mutation_p.G1408D	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1458	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		CATGAGCATGGCATAGTCCAC	0.547																																																	0								ENSG00000085511						169.0	138.0	149.0					6																	161530923		2203	4300	6503	MAP3K4	SO:0001583	missense	0			-	HGNC	AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.4373G>A	6.37:g.161530923G>A	ENSP00000375986:p.Gly1458Asp	Somatic	0	35	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	13	18.75	A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Prot_kinase_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_dom	p.G1458D	ENST00000392142.4	37	c.4373	CCDS34565.1	6	.	.	.	.	.	.	.	.	.	.	G	31	5.103618	0.94245	.	.	ENSG00000085511	ENST00000366919;ENST00000392142;ENST00000540111;ENST00000366920;ENST00000348824	T;T;T;T	0.30182	1.54;1.54;1.54;1.54	5.02	5.02	0.67125	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.41419	0.1158	L	0.55481	1.735	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.996;1.0;1.0	T	0.11348	-1.0591	10	0.33940	T	0.23	-30.4667	16.5144	0.84295	0.0:0.0:1.0:0.0	.	1454;394;1408;1458	F5H538;Q9P1M2;Q9Y6R4-2;Q9Y6R4	.;.;.;M3K4_HUMAN	D	1408;1458;1408;1454;1404	ENSP00000355886:G1408D;ENSP00000375986:G1458D;ENSP00000355887:G1454D;ENSP00000297332:G1404D	ENSP00000297332:G1404D	G	+	2	0	MAP3K4	161450913	1.000000	0.71417	0.997000	0.53966	0.982000	0.71751	9.787000	0.99055	2.324000	0.78689	0.655000	0.94253	GGC	-	pfam_Prot_kinase_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_dom		0.547	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP3K4	protein_coding	OTTHUMT00000042988.3	G		-		161530923	+1	no_errors	ENST00000392142	ensembl	human	known	74_37	missense	SNP	1.000	A
SCN2A	6326	genome.wustl.edu	37	2	166168534	166168534	+	Splice_Site	SNP	G	G	T			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr2:166168534G>T	ENST00000375437.2	+	8	1260		c.e8-1		SCN2A_ENST00000357398.3_Splice_Site|SCN2A_ENST00000283256.6_Splice_Site|SCN2A_ENST00000375427.2_Splice_Site	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit						intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TCTTTAAATAGGTCACTTTTA	0.383																																																	0								ENSG00000136531						101.0	99.0	99.0					2																	166168534		2202	4299	6501	SCN2A	SO:0001630	splice_region_variant	0			-	HGNC	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.971-1G>T	2.37:g.166168534G>T		Somatic	0	35	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	25	19.35	A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Splice_Site	SNP	NA	NA	NA	NA	NA	NA	-	e7-1	ENST00000375437.2	37	c.971-1	CCDS33314.1	2	.	.	.	.	.	.	.	.	.	.	G	23.1	4.378366	0.82682	.	.	ENSG00000136531	ENST00000424833;ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4127	0.94681	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SCN2A	165876780	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	9.476000	0.97823	2.639000	0.89480	0.655000	0.94253	.	-	-		0.383	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCN2A	protein_coding	OTTHUMT00000102659.2	G	NM_021007	-	Intron	166168534	+1	no_errors	ENST00000283256	ensembl	human	known	74_37	splice_site	SNP	1.000	T
DOCK8	81704	genome.wustl.edu	37	9	421060	421060	+	Missense_Mutation	SNP	A	A	T			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr9:421060A>T	ENST00000453981.1	+	32	4247	c.4135A>T	c.(4135-4137)Atg>Ttg	p.M1379L	DOCK8_ENST00000469391.1_Missense_Mutation_p.M1279L|DOCK8_ENST00000432829.2_Missense_Mutation_p.M1311L|DOCK8_ENST00000382329.1_Missense_Mutation_p.M846L|DOCK8_ENST00000493666.2_3'UTR			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1379					blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		AGGGGAGATGATGCGCCGCCG	0.567																																																	0								ENSG00000107099						71.0	75.0	74.0					9																	421060		2203	4300	6503	DOCK8	SO:0001583	missense	0			-	HGNC	AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.4135A>T	9.37:g.421060A>T	ENSP00000408464:p.Met1379Leu	Somatic	0	66	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	35	28.57	A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold	p.M1379L	ENST00000453981.1	37	c.4135	CCDS6440.2	9	.	.	.	.	.	.	.	.	.	.	A	14.88	2.667470	0.47677	.	.	ENSG00000107099	ENST00000453981;ENST00000287364;ENST00000432829;ENST00000469391;ENST00000382329	T;T;T;T	0.01665	4.7;4.7;4.7;4.7	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.01870	0.0059	L	0.28556	0.865	0.80722	D	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.09377	0.001;0.001;0.004	T	0.50591	-0.8810	10	0.07644	T	0.81	.	16.087	0.81065	1.0:0.0:0.0:0.0	.	1279;846;1379	E9PH09;A2A369;Q8NF50	.;.;DOCK8_HUMAN	L	1379;1347;1311;1279;846	ENSP00000408464:M1379L;ENSP00000394888:M1311L;ENSP00000419438:M1279L;ENSP00000371766:M846L	ENSP00000287364:M1347L	M	+	1	0	DOCK8	411060	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.189000	0.65098	2.202000	0.70862	0.533000	0.62120	ATG	-	NULL		0.567	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK8	protein_coding	OTTHUMT00000171792.5	A	XM_036307	-		421060	+1	no_errors	ENST00000453981	ensembl	human	known	74_37	missense	SNP	1.000	T
MED12L	116931	genome.wustl.edu	37	3	151107922	151107922	+	Splice_Site	SNP	A	A	G			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr3:151107922A>G	ENST00000474524.1	+	36	5540	c.5502A>G	c.(5500-5502)ccA>ccG	p.P1834P	MED12L_ENST00000273432.4_Splice_Site_p.P1694P	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1834						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CTCTTACTCCAGGTATGTGAT	0.483																																																	0								ENSG00000144893						115.0	128.0	124.0					3																	151107922		2203	4300	6503	MED12L	SO:0001630	splice_region_variant	0			-	HGNC	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.5503+1A>G	3.37:g.151107922A>G		Somatic	0	57	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	49	30.99	Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd	p.P1834	ENST00000474524.1	37	c.5502	CCDS33876.1	3																																																																																			-	pfam_Mediator_Med12_catenin-bd		0.483	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED12L	protein_coding	OTTHUMT00000357707.2	A	NM_053002	-	Silent	151107922	+1	no_errors	ENST00000474524	ensembl	human	known	74_37	silent	SNP	1.000	G
OR12D2	26529	genome.wustl.edu	37	6	29365079	29365079	+	Silent	SNP	G	G	T	rs201460005	byFrequency	TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr6:29365079G>T	ENST00000383555.2	+	1	664	c.603G>T	c.(601-603)acG>acT	p.T201T	OR5V1_ENST00000377154.1_Intron	NM_013936.3	NP_039224.2	P58182	O12D2_HUMAN	olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene)	201						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						GTACTGTCACGGGGACAATTG	0.448																																																	0								ENSG00000168787						156.0	160.0	158.0					6																	29365079		1511	2709	4220	OR12D2	SO:0001819	synonymous_variant	0			-	HGNC		CCDS4659.1	6p22.2-p21.31	2013-10-10	2013-10-10		ENSG00000168787	ENSG00000168787		"""GPCR / Class A : Olfactory receptors"""	8178	protein-coding gene	gene with protein product			"""olfactory receptor, family 12, subfamily D, member 2"""				Standard	NM_013936		Approved	hs6M1-20	uc003nmf.4	P58182	OTTHUMG00000031049	ENST00000383555.2:c.603G>T	6.37:g.29365079G>T		Somatic	0	23	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	17	39.29	B0S862|Q5SUN9|Q6IET9	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.T201	ENST00000383555.2	37	c.603	CCDS4659.1	6																																																																																			-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.448	OR12D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR12D2	protein_coding	OTTHUMT00000076054.2	G		-		29365079	+1	no_errors	ENST00000383555	ensembl	human	known	74_37	silent	SNP	0.000	T
CXorf30	645090	genome.wustl.edu	37	X	36371692	36371692	+	Missense_Mutation	SNP	T	T	G			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chrX:36371692T>G	ENST00000378657.4	+	14	1733	c.1085T>G	c.(1084-1086)aTc>aGc	p.I362S		NM_001098843.4	NP_001092313.2	A6PW82	CX030_HUMAN	chromosome X open reading frame 30	362										breast(1)|lung(2)|stomach(1)	4						AAGGTAGAAATCATACTGAAT	0.378																																																	0								ENSG00000205081						140.0	105.0	116.0					X																	36371692		692	1591	2283	CXorf30	SO:0001583	missense	0			-	HGNC		CCDS55396.1	Xp21.1	2014-08-07			ENSG00000205081	ENSG00000205081			27298	protein-coding gene	gene with protein product							Standard	NM_001098843		Approved		uc011mkc.3	A6PW82	OTTHUMG00000021353	ENST00000378657.4:c.1085T>G	X.37:g.36371692T>G	ENSP00000367926:p.Ile362Ser	Somatic	0	55	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	55	17.91		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.I362S	ENST00000378657.4	37	c.1085	CCDS55396.1	X	.	.	.	.	.	.	.	.	.	.	T	14.88	2.668214	0.47677	.	.	ENSG00000205081	ENST00000378653;ENST00000378657	T;T	0.27402	1.67;1.68	4.62	4.62	0.57501	.	0.499415	0.19498	N	0.112811	T	0.35799	0.0944	L	0.38175	1.15	0.09310	N	1	D	0.59357	0.985	P	0.55391	0.775	T	0.11179	-1.0598	10	0.51188	T	0.08	-2.5071	9.4416	0.38673	0.0:0.0:0.0:1.0	.	362	A6PW82	CX030_HUMAN	S	647;362	ENSP00000367922:I647S;ENSP00000367926:I362S	ENSP00000367922:I647S	I	+	2	0	CXorf30	36281613	0.487000	0.25988	0.003000	0.11579	0.008000	0.06430	2.422000	0.44696	1.830000	0.53286	0.437000	0.28790	ATC	-	NULL		0.378	CXorf30-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CXorf30	protein_coding		T	NP_001092313	-		36371692	+1	no_errors	ENST00000378657	ensembl	human	known	74_37	missense	SNP	0.004	G
PAGE3	139793	genome.wustl.edu	37	X	55287001	55287001	+	Silent	SNP	C	C	A			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chrX:55287001C>A	ENST00000374951.1	-	4	593	c.285G>T	c.(283-285)ctG>ctT	p.L95L	PAGE3_ENST00000519203.1_Silent_p.L95L			Q5JUK9	PAGE3_HUMAN	P antigen family, member 3 (prostate associated)	95										endometrium(1)|kidney(1)|lung(1)	3						CCAGATTTGGCAGAAATTCTC	0.388																																																	0								ENSG00000204279						60.0	52.0	55.0					X																	55287001		2203	4299	6502	PAGE3	SO:0001819	synonymous_variant	0			-	HGNC			Xp11	2009-06-17	2005-01-26	2005-01-27	ENSG00000204279	ENSG00000204279			4110	protein-coding gene	gene with protein product		300739	"""G antigen, family D, 1"""	GAGED1		9724777	Standard	NR_033460		Approved	PAGE-3, CT16.6	uc022bxs.2	Q5JUK9	OTTHUMG00000021654	ENST00000374951.1:c.285G>T	X.37:g.55287001C>A		Somatic	0	246	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	77	240	24.29	A5D6Y1	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_GAGE	p.L95	ENST00000374951.1	37	c.285		X																																																																																			-	pfam_GAGE		0.388	PAGE3-001	KNOWN	basic|appris_principal	protein_coding	PAGE3	protein_coding	OTTHUMT00000056867.2	C	XM_060054	-		55287001	-1	no_errors	ENST00000374951	ensembl	human	known	74_37	silent	SNP	0.000	A
POF1B	79983	genome.wustl.edu	37	X	84560869	84560869	+	Missense_Mutation	SNP	C	C	A			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chrX:84560869C>A	ENST00000262753.4	-	13	1510	c.1365G>T	c.(1363-1365)gaG>gaT	p.E455D	POF1B_ENST00000373145.3_Missense_Mutation_p.E455D	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	455						tight junction (GO:0005923)				central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						GGTTGCCAATCTCATCCATTT	0.388																																																	0								ENSG00000124429						195.0	164.0	175.0					X																	84560869		2203	4300	6503	POF1B	SO:0001583	missense	0			-	HGNC	BC017500	CCDS14452.1	Xq21.2	2008-02-05			ENSG00000124429	ENSG00000124429			13711	protein-coding gene	gene with protein product		300603				11299520	Standard	NM_024921		Approved	POF, FLJ22792	uc004eer.2	Q8WVV4	OTTHUMG00000021934	ENST00000262753.4:c.1365G>T	X.37:g.84560869C>A	ENSP00000262753:p.Glu455Asp	Somatic	0	51	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	26	23.53	A8K2U5|Q5H9E9|Q5H9F0|Q8NG12|Q9H5Y2|Q9H738|Q9H744	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.E455D	ENST00000262753.4	37	c.1365	CCDS14452.1	X	.	.	.	.	.	.	.	.	.	.	C	18.68	3.676124	0.67928	.	.	ENSG00000124429	ENST00000262753;ENST00000373145	T;T	0.21734	2.0;1.99	5.69	1.91	0.25777	.	0.045411	0.85682	N	0.000000	T	0.18130	0.0435	L	0.59436	1.845	0.41141	D	0.985956	B;B	0.19935	0.04;0.04	B;B	0.19666	0.026;0.026	T	0.05750	-1.0866	10	0.39692	T	0.17	.	5.3213	0.15883	0.0:0.5379:0.1372:0.3249	.	455;455	Q8WVV4-1;Q8WVV4	.;POF1B_HUMAN	D	455	ENSP00000262753:E455D;ENSP00000362238:E455D	ENSP00000262753:E455D	E	-	3	2	POF1B	84447525	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	0.495000	0.22483	-0.042000	0.13535	0.600000	0.82982	GAG	-	NULL		0.388	POF1B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	POF1B	protein_coding	OTTHUMT00000057391.2	C	NM_024921	-		84560869	-1	no_errors	ENST00000373145	ensembl	human	known	74_37	missense	SNP	0.999	A
MEP1A	4224	genome.wustl.edu	37	6	46806867	46806867	+	Silent	SNP	G	G	A			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr6:46806867G>A	ENST00000230588.4	+	14	2244	c.2235G>A	c.(2233-2235)agG>agA	p.R745R		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	745					digestion (GO:0007586)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|meprin A complex (GO:0017090)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			AAAGGCCAAGGAAGTGACCTG	0.557																																																	0								ENSG00000112818						64.0	51.0	56.0					6																	46806867		2203	4296	6499	MEP1A	SO:0001819	synonymous_variant	0			-	HGNC		CCDS4918.1	6p12-p11	2010-10-18			ENSG00000112818	ENSG00000112818	3.4.24.18		7015	protein-coding gene	gene with protein product		600388				7774936	Standard	NM_005588		Approved	PPHA	uc010jzh.1	Q16819	OTTHUMG00000014790	ENST00000230588.4:c.2235G>A	6.37:g.46806867G>A		Somatic	0	52	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	55	8.33	A2RRM4|B0AZP9|B2RCS2|Q8TDC9|Q9H1R1	Silent	SNP	NA	NA	NA	NA	NA	NA	pirsf_Pept_M12A_Meprin,pfam_Peptidase_M12A,pfam_MATH,pfam_MAM_dom,pfam_EG-like_dom,superfamily_TRAF-like,superfamily_ConA-like_lec_gl_sf,smart_Peptidase_Metallo,smart_MAM_dom,smart_MATH,prints_Peptidase_M12A,prints_MAM_dom,pfscan_EG-like_dom,pfscan_MATH,pfscan_MAM_dom	p.R745	ENST00000230588.4	37	c.2235	CCDS4918.1	6																																																																																			-	pirsf_Pept_M12A_Meprin		0.557	MEP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEP1A	protein_coding	OTTHUMT00000040803.1	G	NM_005588	-		46806867	+1	no_errors	ENST00000230588	ensembl	human	known	74_37	silent	SNP	0.291	A
MRPL32	64983	genome.wustl.edu	37	7	42976985	42976985	+	Missense_Mutation	SNP	G	G	T	rs148841197		TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr7:42976985G>T	ENST00000223324.2	+	3	564	c.377G>T	c.(376-378)tGc>tTc	p.C126F	MRPL32_ENST00000496564.1_Intron	NM_031903.2	NP_114109.1	Q9BYC8	RM32_HUMAN	mitochondrial ribosomal protein L32	126					translation (GO:0006412)	large ribosomal subunit (GO:0015934)|mitochondrial ribosome (GO:0005761)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)	10						TGTGCCTACTGCTATGAAAAG	0.428																																																	0								ENSG00000106591						123.0	112.0	116.0					7																	42976985		2203	4300	6503	MRPL32	SO:0001583	missense	0			-	HGNC	AB051343	CCDS5468.1	7p14	2012-09-13			ENSG00000106591	ENSG00000106591		"""Mitochondrial ribosomal proteins / large subunits"""	14035	protein-coding gene	gene with protein product		611839				11543634	Standard	NM_031903		Approved	HSPC283, L32mt, MRP-L32, bMRP-59b	uc003tia.3	Q9BYC8	OTTHUMG00000155180	ENST00000223324.2:c.377G>T	7.37:g.42976985G>T	ENSP00000223324:p.Cys126Phe	Somatic	0	46	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16	Q96Q68|Q9P098	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Ribosomal_L32p,superfamily_Ribosomal_zn-bd	p.C126F	ENST00000223324.2	37	c.377	CCDS5468.1	7	.	.	.	.	.	.	.	.	.	.	G	26.1	4.702371	0.88924	.	.	ENSG00000106591	ENST00000223324	.	.	.	5.9	5.9	0.94986	.	0.039648	0.85682	D	0.000000	D	0.90390	0.6992	H	0.96805	3.885	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92749	0.6214	9	0.87932	D	0	-18.3407	20.2789	0.98501	0.0:0.0:1.0:0.0	.	126	Q9BYC8	RM32_HUMAN	F	126	.	ENSP00000223324:C126F	C	+	2	0	MRPL32	42943510	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	9.071000	0.93980	2.788000	0.95919	0.650000	0.86243	TGC	-	pfam_Ribosomal_L32p,superfamily_Ribosomal_zn-bd		0.428	MRPL32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL32	protein_coding	OTTHUMT00000338669.1	G	NM_031903	-		42976985	+1	no_errors	ENST00000223324	ensembl	human	known	74_37	missense	SNP	1.000	T
CDC123	8872	genome.wustl.edu	37	10	12289026	12289028	+	Intron	DEL	TCC	TCC	-	rs5783246	byFrequency	TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	TCC	TCC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr10:12289026_12289028delTCC	ENST00000281141.4	+	11	1126				RP11-186N15.3_ENST00000598961.1_RNA|CDC123_ENST00000378900.2_Intron|RP11-186N15.3_ENST00000421657.1_RNA|CDC123_ENST00000455773.3_Intron	NM_006023.2	NP_006014.2	O75794	CD123_HUMAN	cell division cycle 123						cell cycle arrest (GO:0007050)|cell division (GO:0051301)|positive regulation of cell proliferation (GO:0008284)|regulation of mitotic cell cycle (GO:0007346)	cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12						GGACACTGTGTCCTCCTCTCTCA	0.606														1859	0.371206	0.2859	0.4409	5008	,	,		18842	0.2827		0.4622	False		,,,				2504	0.4346																0								ENSG00000228302																																			RP11-186N15.3	SO:0001627	intron_variant	0				Clone_based_vega_gene	BC001600	CCDS7090.1	10p13	2013-01-17	2013-01-17	2006-11-06	ENSG00000151465	ENSG00000151465			16827	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 7"", ""cell division cycle 123 homolog (S. cerevisiae)"""	C10orf7		15319434	Standard	NM_006023		Approved	D123	uc001ill.3	O75794	OTTHUMG00000017680	ENST00000281141.4:c.846+750TCC>-	10.37:g.12289029_12289031delTCC		Somatic	0	9	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	6	53.85	A8JZZ7|Q14107|Q5T0L4|Q5T0L5|Q5T0L7|Q5T0L8|Q5T0L9	RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000281141.4	37	NULL	CCDS7090.1	10																																																																																			-	-		0.606	CDC123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000228302	protein_coding	OTTHUMT00000046801.1	TCC	NM_006023			12289028	-1	no_errors	ENST00000421657	ensembl	human	known	74_37	rna	DEL	0.000:0.001:0.002	-
BTBD11	121551	genome.wustl.edu	37	12	108051405	108051405	+	Silent	SNP	C	C	A	rs576588335		TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr12:108051405C>A	ENST00000280758.5	+	17	3753	c.3225C>A	c.(3223-3225)acC>acA	p.T1075T	BTBD11_ENST00000494235.2_Silent_p.T154T|BTBD11_ENST00000357167.4_Silent_p.T612T|BTBD11_ENST00000420571.2_Silent_p.T956T	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	1075						integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						GTGAAGGGACCGGCCAGGATG	0.473																																																	0								ENSG00000151136						124.0	112.0	116.0					12																	108051405		2203	4300	6503	BTBD11	SO:0001819	synonymous_variant	0			-	HGNC	AK091276	CCDS31893.1, CCDS41827.1	12q24.11	2013-10-02			ENSG00000151136	ENSG00000151136		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	23844	protein-coding gene	gene with protein product							Standard	XM_005268645		Approved	FLJ33957, ABTB2B	uc001tmk.1	A6QL63	OTTHUMG00000150413	ENST00000280758.5:c.3225C>A	12.37:g.108051405C>A		Somatic	0	56	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	30	39.22	A4FU41|B3KXG3|C9J019|C9JK80|E9PHS4|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Ankyrin_rpt,pfam_BTB_POZ,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,superfamily_Histone-fold,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like	p.T1075	ENST00000280758.5	37	c.3225	CCDS31893.1	12																																																																																			-	NULL		0.473	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BTBD11	protein_coding	OTTHUMT00000318003.1	C	NM_152322	-		108051405	+1	no_errors	ENST00000280758	ensembl	human	known	74_37	silent	SNP	0.470	A
OR2J3	442186	genome.wustl.edu	37	6	29080202	29080202	+	Missense_Mutation	SNP	C	C	A			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr6:29080202C>A	ENST00000377169.1	+	1	535	c.535C>A	c.(535-537)Cac>Aac	p.H179N		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	179						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						CCAAGTAGATCACTTTTTCTG	0.473																																																	0								ENSG00000204701						117.0	126.0	123.0					6																	29080202		1289	2578	3867	OR2J3	SO:0001583	missense	0			-	HGNC		CCDS43433.1	6p22.2-p21.31	2012-08-09			ENSG00000204701	ENSG00000204701		"""GPCR / Class A : Olfactory receptors"""	8261	protein-coding gene	gene with protein product		615016					Standard	NM_001005216		Approved	OR6-6	uc011dll.2	O76001	OTTHUMG00000031092	ENST00000377169.1:c.535C>A	6.37:g.29080202C>A	ENSP00000366374:p.His179Asn	Somatic	0	65	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	57	10.94	B0UY52|B9EH11|Q5SUJ7|Q6IF25|Q96R15|Q9GZK5|Q9GZL4|Q9GZL5	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.H179N	ENST00000377169.1	37	c.535	CCDS43433.1	6	.	.	.	.	.	.	.	.	.	.	C	7.962	0.747240	0.15710	.	.	ENSG00000204701	ENST00000377169	T	0.00164	8.64	2.78	1.76	0.24704	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00144	0.0004	L	0.60904	1.88	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.38436	-0.9661	9	0.41790	T	0.15	.	6.1697	0.20410	0.1869:0.6963:0.0:0.1168	.	179	O76001	OR2J3_HUMAN	N	179	ENSP00000366374:H179N	ENSP00000366374:H179N	H	+	1	0	OR2J3	29188181	0.022000	0.18835	0.991000	0.47740	0.278000	0.26855	0.154000	0.16343	1.549000	0.49425	0.436000	0.28706	CAC	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.473	OR2J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2J3	protein_coding	OTTHUMT00000076132.2	C		-		29080202	+1	no_errors	ENST00000377169	ensembl	human	known	74_37	missense	SNP	0.024	A
MT-ND6	4541	genome.wustl.edu	37	M	14569	14569	+	Silent	SNP	G	G	A			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chrM:14569G>A	ENST00000361681.2	-	1	104	c.105C>T	c.(103-105)agC>agT	p.S35S	MT-CYB_ENST00000361789.2_5'Flank|MT-TS2_ENST00000387449.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-TP_ENST00000387461.2_RNA|MT-TT_ENST00000387460.2_RNA|MT-TH_ENST00000387441.1_RNA|MT-TE_ENST00000387459.1_RNA			P03923	NU6M_HUMAN	mitochondrially encoded NADH dehydrogenase 6	35					cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|respiratory chain (GO:0070469)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|endometrium(10)|kidney(17)|urinary_tract(1)	29						CCGACCACACCGCTAACAATC	0.383																																																	0								ENSG00000198695																																			MT-ND6	SO:0001819	synonymous_variant	0			-	HGNC			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198695	ENSG00000198695	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7462	protein-coding gene	gene with protein product	"""complex I ND6 subunit"", ""NADH-ubiquinone oxidoreductase chain 6"""	516006	"""NADH dehydrogenase 6"""	MTND6			Standard			Approved	NAD6, ND6		P03923		ENST00000361681.2:c.105C>T	M.37:g.14569G>A		Somatic	1	447	0.22		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	293	103	73.99	Q34774|Q8HG30	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_NADH_UbQ/plastoQ_OxRdtase_su6	p.S35	ENST00000361681.2	37	c.105		MT																																																																																			-	pfam_NADH_UbQ/plastoQ_OxRdtase_su6		0.383	MT-ND6-201	KNOWN	basic|appris_principal	protein_coding	MT-ND6	protein_coding		G	YP_003024037	-		14569	-1	no_errors	ENST00000361681	ensembl	human	known	74_37	silent	SNP	NULL	A
IDH3A	3419	genome.wustl.edu	37	15	78452499	78452499	+	Silent	SNP	C	C	T			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr15:78452499C>T	ENST00000299518.2	+	4	323	c.240C>T	c.(238-240)atC>atT	p.I80I	IDH3A_ENST00000558535.1_3'UTR|IDH3A_ENST00000441490.2_Intron|IDH3A_ENST00000559205.1_Intron|IDH3A_ENST00000558554.1_Silent_p.I80I	NM_005530.2	NP_005521.1	P50213	IDH3A_HUMAN	isocitrate dehydrogenase 3 (NAD+) alpha	80					carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	isocitrate dehydrogenase (NAD+) activity (GO:0004449)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)			endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	12						AGTGGATGATCCCTTCAGAGG	0.507																																																	0								ENSG00000166411						85.0	78.0	80.0					15																	78452499		2196	4293	6489	IDH3A	SO:0001819	synonymous_variant	0			-	HGNC		CCDS10297.1	15q25.1-q25.2	2008-07-18			ENSG00000166411	ENSG00000166411	1.1.1.41		5384	protein-coding gene	gene with protein product	"""H-IDH alpha"", ""isocitric dehydrogenase"", ""isocitrate dehydrogenase [NAD] subunit alpha, mitochondrial"", ""NAD+-specific ICDH"", ""NAD(H)-specific isocitrate dehydrogenase alpha subunit"", ""isocitrate dehydrogenase (NAD+) alpha chain"""	601149				8833160	Standard	NM_005530		Approved		uc002bdd.3	P50213	OTTHUMG00000143732	ENST00000299518.2:c.240C>T	15.37:g.78452499C>T		Somatic	0	42	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	26	16.13	D3DW83|Q9H3X0	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_IsoPropMal-DH-like_dom,tigrfam_Isocitrate_DH_NAD	p.I80	ENST00000299518.2	37	c.240	CCDS10297.1	15																																																																																			-	pfam_IsoPropMal-DH-like_dom,tigrfam_Isocitrate_DH_NAD		0.507	IDH3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IDH3A	protein_coding	OTTHUMT00000289799.4	C	NM_005530	-		78452499	+1	no_errors	ENST00000299518	ensembl	human	known	74_37	silent	SNP	1.000	T
RFX2	5990	genome.wustl.edu	37	19	6013073	6013073	+	Missense_Mutation	SNP	C	C	G			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr19:6013073C>G	ENST00000303657.5	-	8	972	c.823G>C	c.(823-825)Gac>Cac	p.D275H	RFX2_ENST00000359161.3_Missense_Mutation_p.D275H|CTC-232P5.1_ENST00000587836.1_RNA|RFX2_ENST00000592546.1_Missense_Mutation_p.D250H	NM_000635.3	NP_000626.2	P48378	RFX2_HUMAN	regulatory factor X, 2 (influences HLA class II expression)	275					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						AGTGGTGAGTCCGGCTTCAGA	0.592																																					Colon(38;171 817 19800 47433 48051)												0								ENSG00000087903						129.0	123.0	125.0					19																	6013073		2203	4300	6503	RFX2	SO:0001583	missense	0			-	HGNC		CCDS12157.1, CCDS12158.1	19p13.3	2011-11-23			ENSG00000087903	ENSG00000087903			9983	protein-coding gene	gene with protein product	"""trans-acting regulatory factor 2"", ""DNA binding protein RFX2"", ""HLA class II regulatory factor RFX2"""	142765				1505960	Standard	NM_000635		Approved	FLJ14226	uc002meb.3	P48378		ENST00000303657.5:c.823G>C	19.37:g.6013073C>G	ENSP00000306335:p.Asp275His	Somatic	0	31	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	38	9.52	A8K581|B3KNC4|Q6IQ44|Q8SNA2	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_RFX1_trans_act,pfam_DNA-bd_RFX	p.D275H	ENST00000303657.5	37	c.823	CCDS12157.1	19	.	.	.	.	.	.	.	.	.	.	C	22.9	4.354404	0.82243	.	.	ENSG00000087903	ENST00000303657;ENST00000359161;ENST00000537791	D	0.83335	-1.71	4.99	4.99	0.66335	.	0.047878	0.85682	D	0.000000	D	0.90528	0.7032	M	0.78637	2.42	0.80722	D	1	P;P	0.40083	0.702;0.577	P;P	0.58172	0.834;0.687	D	0.90977	0.4824	10	0.59425	D	0.04	-39.4785	17.2454	0.87026	0.0:1.0:0.0:0.0	.	250;275	P48378-2;P48378	.;RFX2_HUMAN	H	275;250;62	ENSP00000306335:D275H	ENSP00000306335:D275H	D	-	1	0	RFX2	5964073	0.992000	0.36948	0.988000	0.46212	0.951000	0.60555	3.024000	0.49674	2.473000	0.83533	0.557000	0.71058	GAC	-	NULL		0.592	RFX2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RFX2	protein_coding	OTTHUMT00000452687.1	C	NM_000635	-		6013073	-1	no_errors	ENST00000303657	ensembl	human	known	74_37	missense	SNP	1.000	G
DNM1L	10059	genome.wustl.edu	37	12	32884338	32884338	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr12:32884338G>A	ENST00000549701.1	+	11	1323	c.1249G>A	c.(1249-1251)Gtg>Atg	p.V417M	DNM1L_ENST00000547312.1_Missense_Mutation_p.V417M|DNM1L_ENST00000553257.1_Missense_Mutation_p.V430M|DNM1L_ENST00000452533.2_Missense_Mutation_p.V417M|YARS2_ENST00000551673.1_Intron|DNM1L_ENST00000414834.2_Missense_Mutation_p.V214M|DNM1L_ENST00000358214.5_Missense_Mutation_p.V430M|DNM1L_ENST00000266481.6_Missense_Mutation_p.V417M|DNM1L_ENST00000381000.4_Missense_Mutation_p.V430M			O00429	DNM1L_HUMAN	dynamin 1-like	417	Middle domain.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|dynamin polymerization involved in mitochondrial fission (GO:0003374)|endocytosis (GO:0006897)|GTP catabolic process (GO:0006184)|membrane fission involved in mitochondrial fission (GO:0090149)|membrane fusion (GO:0061025)|mitochondrial fission (GO:0000266)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrion morphogenesis (GO:0070584)|necroptotic process (GO:0070266)|peroxisome fission (GO:0016559)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein secretion (GO:0050714)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein homotetramerization (GO:0051289)|protein localization to mitochondrion (GO:0070585)|regulation of mitochondrion organization (GO:0010821)|regulation of peroxisome organization (GO:1900063)|regulation of protein oligomerization (GO:0032459)|release of cytochrome c from mitochondria (GO:0001836)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)|protein complex (GO:0043234)|synapse (GO:0045202)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					TGAGTTACTGGTGAAGCGGCA	0.418																																																	0								ENSG00000087470						111.0	115.0	113.0					12																	32884338		2203	4300	6503	DNM1L	SO:0001583	missense	0			-	HGNC	AF000430	CCDS8728.1, CCDS8729.1, CCDS8730.1, CCDS61095.1, CCDS61096.1, CCDS61098.1, CCDS61099.1	12p11.21	2012-10-02			ENSG00000087470	ENSG00000087470			2973	protein-coding gene	gene with protein product		603850				9348079, 9731200	Standard	NM_012062		Approved	DRP1, DVLP, HDYNIV, DYMPLE, VPS1	uc001rld.2	O00429	OTTHUMG00000169451	ENST00000549701.1:c.1249G>A	12.37:g.32884338G>A	ENSP00000450399:p.Val417Met	Somatic	0	59	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16	A8K4X9|B4DGC9|B4DSU8|J3KPI2|O14541|O60709|Q59GN9|Q7L6B3|Q8TBT7|Q9BWM1|Q9Y5J2	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,superfamily_P-loop_NTPase,smart_Dynamin_GTPase,smart_GED,prints_Dynamin_SF	p.V430M	ENST00000549701.1	37	c.1288	CCDS8729.1	12	.	.	.	.	.	.	.	.	.	.	G	25.0	4.593600	0.86953	.	.	ENSG00000087470	ENST00000452533;ENST00000411996;ENST00000266479;ENST00000553257;ENST00000549701;ENST00000358214;ENST00000266481;ENST00000547312;ENST00000414834;ENST00000381000	T;T;T;T;T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27;-1.27;-1.27;-1.27;-1.27	5.01	4.11	0.48088	Dynamin central domain (1);	0.059585	0.64402	D	0.000003	D	0.90140	0.6919	H	0.96175	3.78	0.80722	D	1	P;D;D;D;D;P	0.55385	0.932;0.971;0.971;0.964;0.971;0.948	P;P;P;P;P;P	0.58577	0.544;0.724;0.841;0.692;0.782;0.782	D	0.92949	0.6379	10	0.87932	D	0	.	14.6433	0.68742	0.0:0.0:0.8533:0.1467	.	214;470;470;483;470;417	B4DGC9;D3DUW6;D3DUW5;F8W8D1;D3DUW7;O00429	.;.;.;.;.;DNM1L_HUMAN	M	417;483;417;430;417;430;417;417;214;430	ENSP00000415131:V417M;ENSP00000449089:V430M;ENSP00000450399:V417M;ENSP00000350948:V430M;ENSP00000266481:V417M;ENSP00000448610:V417M;ENSP00000404160:V214M;ENSP00000370388:V430M	ENSP00000266479:V417M	V	+	1	0	DNM1L	32775605	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	9.549000	0.98106	1.082000	0.41137	0.557000	0.71058	GTG	-	pfam_Dynamin_central		0.418	DNM1L-003	KNOWN	basic|CCDS	protein_coding	DNM1L	protein_coding	OTTHUMT00000404124.1	G	NM_012062	-		32884338	+1	no_errors	ENST00000553257	ensembl	human	known	74_37	missense	SNP	1.000	A
CDH23	64072	genome.wustl.edu	37	10	73270948	73270949	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr10:73270948_73270949insT	ENST00000224721.6	+	5	413_414	c.408_409insT	c.(409-411)tacfs	p.Y137fs	CDH23_ENST00000461841.3_Frame_Shift_Ins_p.Y182fs|CDH23_ENST00000398809.4_Frame_Shift_Ins_p.Y137fs|CDH23-AS1_ENST00000428918.1_RNA|CDH23_ENST00000398842.3_Frame_Shift_Ins_p.Y137fs|CDH23_ENST00000299366.7_Frame_Shift_Ins_p.Y182fs	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	137	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						ACAATCAGCCCTACAGCGTCCG	0.564																																																	0								ENSG00000107736																																			CDH23	SO:0001589	frameshift_variant	0				HGNC	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.409dupT	10.37:g.73270949_73270949dupT	ENSP00000224721:p.Tyr137fs	Somatic	0	39	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	12	14.29	C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Frame_Shift_Ins	INS	NA	NA	NA	NA	NA	NA	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.Y181fs	ENST00000224721.6	37	c.543_544		10																																																																																			-	superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin		0.564	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	CDH23	protein_coding	OTTHUMT00000051227.4	-	NM_052836			73270949	+1	no_errors	ENST00000461841	ensembl	human	known	74_37	frame_shift_ins	INS	1.000:1.000	T
EGR2	1959	genome.wustl.edu	37	10	64573949	64573949	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr10:64573949delC	ENST00000242480.3	-	2	774	c.449delG	c.(448-450)ggtfs	p.G150fs	EGR2_ENST00000411732.1_Frame_Shift_Del_p.G100fs|EGR2_ENST00000439032.1_Frame_Shift_Del_p.G150fs|EGR2_ENST00000493899.2_5'Flank	NM_000399.3|NM_001136177.1	NP_000390.2|NP_001129649.1	P11161	EGR2_HUMAN	early growth response 2	150					brain development (GO:0007420)|brain segmentation (GO:0035284)|cell death (GO:0008219)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|facial nerve structural organization (GO:0021612)|fat cell differentiation (GO:0045444)|learning or memory (GO:0007611)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein export from nucleus (GO:0006611)|protein sumoylation (GO:0016925)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of ossification (GO:0030278)|response to insulin (GO:0032868)|rhombomere 3 formation (GO:0021660)|rhombomere 5 formation (GO:0021666)|rhythmic behavior (GO:0007622)|Schwann cell differentiation (GO:0014037)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36	Prostate(12;0.0297)|all_hematologic(501;0.228)					GGTGCACACACCCAGGGGTCC	0.622																																																	0								ENSG00000122877						118.0	110.0	113.0					10																	64573949		2203	4300	6503	EGR2	SO:0001589	frameshift_variant	0				HGNC	BC035625	CCDS7267.1, CCDS44409.1	10q21.1	2014-09-17	2009-04-23		ENSG00000122877	ENSG00000122877		"""Zinc fingers, C2H2-type"""	3239	protein-coding gene	gene with protein product	"""Krox-20 homolog, Drosophila"""	129010	"""early growth response 2 (Krox-20 homolog, Drosophila)"""	KROX20			Standard	NM_000399		Approved		uc001jmi.3	P11161	OTTHUMG00000018308	ENST00000242480.3:c.449delG	10.37:g.64573949delC	ENSP00000242480:p.Gly150fs	Somatic	0	36	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	11	15.38	B2R724|B3KRD7|Q68CZ5|Q8IV26|Q9UNA6	Frame_Shift_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_DUF3446,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G150fs	ENST00000242480.3	37	c.449	CCDS7267.1	10																																																																																			-	pfam_DUF3446		0.622	EGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EGR2	protein_coding	OTTHUMT00000048245.2	C	NM_000399			64573949	-1	no_errors	ENST00000242480	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-
TTC6	319089	genome.wustl.edu	37	14	38306552	38306552	+	Intron	SNP	G	G	A			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr14:38306552G>A	ENST00000476979.1	+	12	1487				TTC6_ENST00000267368.7_Intron|TTC6_ENST00000382320.3_Missense_Mutation_p.S489N|TTC6_ENST00000553443.1_Intron			Q86TZ1	TTC6_HUMAN	tetratricopeptide repeat domain 6											central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	14	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;1.59e-06)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0543)|all cancers(34;0.108)|BRCA - Breast invasive adenocarcinoma(188;0.156)|LUSC - Lung squamous cell carcinoma(13;0.176)	GBM - Glioblastoma multiforme(112;0.00551)		ctggcttggagtctttccctt	0.398																																																	0								ENSG00000139865																																			TTC6	SO:0001627	intron_variant	0			-	HGNC	BC014342		14q13.1	2013-01-10			ENSG00000139865	ENSG00000139865		"""Tetratricopeptide (TTC) repeat domain containing"""	19739	protein-coding gene	gene with protein product			"""non-protein coding RNA 291"", ""chromosome 14 open reading frame 25"""	NCRNA00291, C14orf25			Standard	XM_006709976		Approved		uc001wuj.3	Q86TZ1	OTTHUMG00000157369	ENST00000476979.1:c.1201-4098G>A	14.37:g.38306552G>A		Somatic	0	46	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	Q3SY88|Q96CE6	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.S506N	ENST00000476979.1	37	c.1517		14	.	.	.	.	.	.	.	.	.	.	G	8.915	0.959707	0.18507	.	.	ENSG00000139865	ENST00000382320	T	0.61980	0.06	3.09	1.24	0.21308	.	.	.	.	.	T	0.56232	0.1971	.	.	.	.	.	.	.	.	.	.	.	.	T	0.59941	-0.7359	5	0.52906	T	0.07	.	4.4123	0.11439	0.1315:0.2341:0.6344:0.0	.	.	.	.	N	489	ENSP00000371757:S489N	ENSP00000371757:S489N	S	+	2	0	TTC6	37376303	0.147000	0.22687	0.005000	0.12908	0.063000	0.16089	1.684000	0.37649	0.353000	0.24079	-0.326000	0.08463	AGT	-	NULL		0.398	TTC6-002	KNOWN	basic	protein_coding	TTC6	protein_coding	OTTHUMT00000348621.2	G	XM_002343299	-		38306552	+1	no_errors	ENST00000478811	ensembl	human	known	74_37	missense	SNP	0.005	A
ADAM29	11086	genome.wustl.edu	37	4	175898452	175898452	+	Silent	SNP	A	A	G			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr4:175898452A>G	ENST00000359240.3	+	5	2446	c.1776A>G	c.(1774-1776)ggA>ggG	p.G592G	RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000404450.4_Silent_p.G592G|ADAM29_ENST00000514159.1_Silent_p.G592G|ADAM29_ENST00000445694.1_Silent_p.G592G	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	592	Cys-rich.				spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		GGATGAAGGGACCTGATATTG	0.413																																					Ovarian(140;1727 1835 21805 25838 41440)												0								ENSG00000168594						202.0	183.0	189.0					4																	175898452		2203	4300	6503	ADAM29	SO:0001819	synonymous_variant	0			-	HGNC	AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"""ADAM metallopeptidase domain containing"""	207	protein-coding gene	gene with protein product	"""cancer/testis antigen 73"""	604778	"""a disintegrin and metalloproteinase domain 29"""			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.1776A>G	4.37:g.175898452A>G		Somatic	0	47	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	27	25.00	Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.G592	ENST00000359240.3	37	c.1776	CCDS3823.1	4																																																																																			-	pfam_ADAM_Cys-rich,smart_ADAM_Cys-rich		0.413	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	ADAM29	protein_coding		A		-		175898452	+1	no_errors	ENST00000359240	ensembl	human	known	74_37	silent	SNP	0.032	G
WDTC1	23038	genome.wustl.edu	37	1	27620587	27620587	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr1:27620587C>T	ENST00000319394.3	+	8	1272	c.737C>T	c.(736-738)gCa>gTa	p.A246V	WDTC1_ENST00000361771.3_Missense_Mutation_p.A246V	NM_001276252.1|NM_015023.3	NP_001263181.1|NP_055838.2	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	246					cellular chemical homeostasis (GO:0055082)|cellular response to insulin stimulus (GO:0032869)|glucose metabolic process (GO:0006006)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|regulation of cell size (GO:0008361)	cytosol (GO:0005829)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		CCGGACGGTGCAGCCCAGTAT	0.567																																																	0								ENSG00000142784						71.0	66.0	68.0					1																	27620587		2203	4300	6503	WDTC1	SO:0001583	missense	0			-	HGNC	AK023778	CCDS296.1, CCDS60044.1	1p35.3	2013-01-11			ENSG00000142784	ENSG00000142784		"""DDB1 and CUL4 associated factors"", ""WD repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29175	protein-coding gene	gene with protein product	"""adipose homolog (Drosophila)"", ""DDB1 and CUL4 associated factor 9"""					12717455, 19238144	Standard	NM_015023		Approved	KIAA1037, ADP, DCAF9	uc009vst.3	Q8N5D0	OTTHUMG00000004273	ENST00000319394.3:c.737C>T	1.37:g.27620587C>T	ENSP00000317971:p.Ala246Val	Somatic	0	53	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	43	10.42	D3DPL5|Q5SSC5|Q9NV87|Q9UPW4	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,smart_TPR_repeat,pfscan_TPR-contain_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.A246V	ENST00000319394.3	37	c.737		1	.	.	.	.	.	.	.	.	.	.	C	34	5.341147	0.95783	.	.	ENSG00000142784	ENST00000319394;ENST00000361771	T;T	0.61392	0.11;0.11	5.35	5.35	0.76521	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.45236	0.1332	L	0.28556	0.865	0.80722	D	1	B;P	0.42518	0.435;0.782	B;B	0.37047	0.145;0.24	T	0.34004	-0.9846	10	0.18710	T	0.47	.	18.2298	0.89931	0.0:1.0:0.0:0.0	.	246;246	Q8N5D0;Q8N5D0-4	WDTC1_HUMAN;.	V	246	ENSP00000317971:A246V;ENSP00000355317:A246V	ENSP00000317971:A246V	A	+	2	0	WDTC1	27493174	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	7.313000	0.78978	2.785000	0.95823	0.655000	0.94253	GCA	-	superfamily_WD40_repeat_dom		0.567	WDTC1-201	KNOWN	basic|appris_candidate_longest	protein_coding	WDTC1	protein_coding		C	NM_015023	-		27620587	+1	no_errors	ENST00000319394	ensembl	human	known	74_37	missense	SNP	1.000	T
NOA1	84273	genome.wustl.edu	37	4	57832838	57832838	+	Missense_Mutation	SNP	A	A	G			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr4:57832838A>G	ENST00000264230.4	-	5	2949	c.1712T>C	c.(1711-1713)tTg>tCg	p.L571S		NM_032313.2	NP_115689.1	Q8NC60	NOA1_HUMAN	nitric oxide associated 1	571					apoptotic process (GO:0006915)|GTP catabolic process (GO:0006184)|mitochondrial translation (GO:0032543)|regulation of cell death (GO:0010941)|regulation of cellular respiration (GO:0043457)|ribosome biogenesis (GO:0042254)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)										TGCCCTGTCCAAGGAGGTGAT	0.468																																																	0								ENSG00000084092						160.0	133.0	142.0					4																	57832838		2203	4300	6503	NOA1	SO:0001583	missense	0			-	HGNC	AK098215	CCDS3510.1	4q12	2013-05-24	2011-10-19	2011-10-19	ENSG00000084092	ENSG00000084092			28473	protein-coding gene	gene with protein product	"""nitric oxide synthase, mitochondrial (putative)"", ""mitochondrial GTPase 3 homolog (S. cerevisiae)"""	614919	"""chromosome 4 open reading frame 14"""	C4orf14		16380119, 2118999, 21771794, 22447445	Standard	NM_032313		Approved	MGC3232, hAtNOS1, hNOA1, MTG3	uc003hck.3	Q8NC60	OTTHUMG00000128773	ENST00000264230.4:c.1712T>C	4.37:g.57832838A>G	ENSP00000264230:p.Leu571Ser	Somatic	0	35	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	8	71.43	Q8N7L6|Q9BSQ9	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	superfamily_P-loop_NTPase	p.L571S	ENST00000264230.4	37	c.1712	CCDS3510.1	4	.	.	.	.	.	.	.	.	.	.	A	17.66	3.444947	0.63178	.	.	ENSG00000084092	ENST00000264230	T	0.32272	1.46	5.66	5.66	0.87406	.	0.160766	0.37623	N	0.002020	T	0.50871	0.1641	M	0.82193	2.58	0.53688	D	0.999976	D	0.54772	0.968	P	0.52627	0.704	T	0.57106	-0.7868	10	0.51188	T	0.08	.	15.8881	0.79269	1.0:0.0:0.0:0.0	.	571	Q8NC60	CD014_HUMAN	S	571	ENSP00000264230:L571S	ENSP00000264230:L571S	L	-	2	0	C4orf14	57527595	1.000000	0.71417	0.999000	0.59377	0.334000	0.28698	5.033000	0.64146	2.145000	0.66743	0.374000	0.22700	TTG	-	NULL		0.468	NOA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOA1	protein_coding	OTTHUMT00000250694.2	A	NM_032313	-		57832838	-1	no_errors	ENST00000264230	ensembl	human	known	74_37	missense	SNP	0.996	G
FBXO40	51725	genome.wustl.edu	37	3	121340749	121340749	+	Missense_Mutation	SNP	C	C	A			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr3:121340749C>A	ENST00000338040.4	+	3	887	c.473C>A	c.(472-474)cCa>cAa	p.P158Q		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	158					muscle cell differentiation (GO:0042692)	cytoplasm (GO:0005737)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		GAGGAGGAACCAACTATGAAT	0.507																																																	0								ENSG00000163833						93.0	100.0	97.0					3																	121340749		2203	4300	6503	FBXO40	SO:0001583	missense	0			-	HGNC	AF204674	CCDS33835.1	3q21.1	2004-08-24			ENSG00000163833	ENSG00000163833		"""F-boxes /  ""other"""""	29816	protein-coding gene	gene with protein product		609107				10574462	Standard	NM_016298		Approved	KIAA1195, Fbx40	uc003eeg.2	Q9UH90	OTTHUMG00000159410	ENST00000338040.4:c.473C>A	3.37:g.121340749C>A	ENSP00000337510:p.Pro158Gln	Somatic	0	29	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	20	28.57	B2RAX7|Q32M70|Q9ULM5	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	superfamily_F-box_dom,superfamily_TRAF-like,pfscan_F-box_dom,pfscan_Znf_TRAF	p.P158Q	ENST00000338040.4	37	c.473	CCDS33835.1	3	.	.	.	.	.	.	.	.	.	.	C	0.708	-0.788236	0.02884	.	.	ENSG00000163833	ENST00000338040	T	0.41065	1.01	5.46	1.02	0.19986	.	0.862995	0.10130	N	0.712195	T	0.32823	0.0842	L	0.50333	1.59	0.09310	N	1	B	0.30973	0.302	B	0.24701	0.055	T	0.26360	-1.0105	10	0.52906	T	0.07	0.0137	6.2724	0.20961	0.0:0.5334:0.2939:0.1727	.	158	Q9UH90	FBX40_HUMAN	Q	158	ENSP00000337510:P158Q	ENSP00000337510:P158Q	P	+	2	0	FBXO40	122823439	0.000000	0.05858	0.001000	0.08648	0.028000	0.11728	0.145000	0.16157	0.644000	0.30656	0.650000	0.86243	CCA	-	NULL		0.507	FBXO40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO40	protein_coding	OTTHUMT00000355158.1	C	NM_016298	-		121340749	+1	no_errors	ENST00000338040	ensembl	human	known	74_37	missense	SNP	0.001	A
ASXL3	80816	genome.wustl.edu	37	18	31320086	31320086	+	Missense_Mutation	SNP	A	A	T			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr18:31320086A>T	ENST00000269197.5	+	11	2718	c.2718A>T	c.(2716-2718)caA>caT	p.Q906H		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	906					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						AGGACAAGCAATATATCTCAT	0.373																																																	0								ENSG00000141431						92.0	89.0	90.0					18																	31320086		1858	4101	5959	ASXL3	SO:0001583	missense	0			-	HGNC	AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.2718A>T	18.37:g.31320086A>T	ENSP00000269197:p.Gln906His	Somatic	0	24	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	16	15.79	Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	superfamily_Znf_FYVE_PHD	p.Q906H	ENST00000269197.5	37	c.2718	CCDS45847.1	18	.	.	.	.	.	.	.	.	.	.	A	2.080	-0.410965	0.04799	.	.	ENSG00000141431	ENST00000269197	T	0.15372	2.43	6.07	-7.88	0.01178	.	1.766260	0.02720	N	0.113871	T	0.13415	0.0325	L	0.32530	0.975	0.19945	N	0.999949	B	0.11235	0.004	B	0.06405	0.002	T	0.15549	-1.0433	10	0.36615	T	0.2	.	12.8708	0.57965	0.5272:0.0759:0.3969:0.0	.	906	Q9C0F0	ASXL3_HUMAN	H	906	ENSP00000269197:Q906H	ENSP00000269197:Q906H	Q	+	3	2	ASXL3	29574084	0.020000	0.18652	0.031000	0.17742	0.086000	0.17979	-1.048000	0.03517	-1.669000	0.01470	-2.096000	0.00365	CAA	-	NULL		0.373	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ASXL3	protein_coding	OTTHUMT00000441865.2	A		-		31320086	+1	no_errors	ENST00000269197	ensembl	human	known	74_37	missense	SNP	0.145	T
OR13G1	441933	genome.wustl.edu	37	1	247836034	247836034	+	Missense_Mutation	SNP	A	A	T			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr1:247836034A>T	ENST00000359688.2	-	1	331	c.310T>A	c.(310-312)Tct>Act	p.S104T	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	104						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GCTCCCAGAGACCATGTGAAC	0.458																																																	0								ENSG00000197437						86.0	71.0	76.0					1																	247836034		2203	4300	6503	OR13G1	SO:0001583	missense	0			-	HGNC	AB065623	CCDS31094.1	1q44	2012-08-09			ENSG00000197437	ENSG00000197437		"""GPCR / Class A : Olfactory receptors"""	14999	protein-coding gene	gene with protein product		611677					Standard	NM_001005487		Approved		uc001idi.1	Q8NGZ3	OTTHUMG00000040212	ENST00000359688.2:c.310T>A	1.37:g.247836034A>T	ENSP00000352717:p.Ser104Thr	Somatic	0	45	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	24	11.11	B2RN80|Q5T2T2|Q6IF86	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.S104T	ENST00000359688.2	37	c.310	CCDS31094.1	1	.	.	.	.	.	.	.	.	.	.	A	11.51	1.659909	0.29515	.	.	ENSG00000197437	ENST00000359688	T	0.00348	8.0	4.2	1.78	0.24846	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43260	D	0.000599	T	0.00241	0.0007	N	0.12502	0.225	0.18873	N	0.999985	P	0.47253	0.892	P	0.55545	0.778	T	0.53760	-0.8393	10	0.72032	D	0.01	-34.3734	3.5848	0.07966	0.5965:0.197:0.2065:0.0	.	104	Q8NGZ3	O13G1_HUMAN	T	104	ENSP00000352717:S104T	ENSP00000352717:S104T	S	-	1	0	OR13G1	245902657	0.000000	0.05858	0.598000	0.28837	0.942000	0.58702	0.118000	0.15605	0.244000	0.21351	0.460000	0.39030	TCT	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.458	OR13G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR13G1	protein_coding	OTTHUMT00000096869.1	A	NM_001005487	-		247836034	-1	no_errors	ENST00000359688	ensembl	human	known	74_37	missense	SNP	0.390	T
FAR2	55711	genome.wustl.edu	37	12	29449969	29449969	+	Silent	SNP	T	T	C			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr12:29449969T>C	ENST00000536681.3	+	4	627	c.381T>C	c.(379-381)ctT>ctC	p.L127L	RP11-996F15.2_ENST00000553105.1_RNA|FAR2_ENST00000547116.1_Silent_p.L30L|FAR2_ENST00000182377.4_Silent_p.L127L	NM_001271783.1|NM_001271784.1	NP_001258712.1|NP_001258713.1	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2	127					cellular lipid metabolic process (GO:0044255)|ether lipid biosynthetic process (GO:0008611)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	fatty-acyl-CoA reductase (alcohol-forming) activity (GO:0080019)|long-chain-fatty-acyl-CoA reductase activity (GO:0050062)			central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1)	29						CTGTGCAACTTAACGTCACTG	0.428																																																	0								ENSG00000064763						153.0	155.0	155.0					12																	29449969		2203	4300	6503	FAR2	SO:0001819	synonymous_variant	0			-	HGNC	AL136843	CCDS8717.1, CCDS61084.1	12p11.23	2013-07-30	2008-06-06	2008-06-06	ENSG00000064763	ENSG00000064763	1.2.1.-	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	25531	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 10E, member 2"""		"""male sterility domain containing 1"""	MLSTD1		15220348, 15220349, 19027726	Standard	NM_001271783		Approved	FLJ10462, SDR10E2	uc001ris.5	Q96K12	OTTHUMG00000169320	ENST00000536681.3:c.381T>C	12.37:g.29449969T>C		Somatic	0	31	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	18	14.29	F8VV73|Q9H0D5|Q9NVW8	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Male_sterile_NAD-bd,pfam_FAR,pfam_Epimerase_deHydtase,pfam_3Beta_OHSteriod_DH/Estase,pfam_Polysac_CapD-like	p.L127	ENST00000536681.3	37	c.381	CCDS8717.1	12																																																																																			-	pfam_Male_sterile_NAD-bd,pfam_Epimerase_deHydtase,pfam_3Beta_OHSteriod_DH/Estase,pfam_Polysac_CapD-like		0.428	FAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAR2	protein_coding	OTTHUMT00000403479.2	T	NM_018099	-		29449969	+1	no_errors	ENST00000182377	ensembl	human	known	74_37	silent	SNP	0.237	C
TUBA3C	7278	genome.wustl.edu	37	13	19751292	19751292	+	Silent	SNP	T	T	C	rs147482964	byFrequency	TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr13:19751292T>C	ENST00000400113.3	-	4	935	c.831A>G	c.(829-831)tcA>tcG	p.S277S		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	277					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		CCTTCTCGGCTGAGATGACCG	0.612																																																	0								ENSG00000198033						131.0	119.0	123.0					13																	19751292		2203	4300	6503	TUBA3C	SO:0001819	synonymous_variant	0			-	HGNC	AF005392	CCDS9284.1	13q12.11	2007-06-20	2007-02-12	2007-02-12	ENSG00000198033	ENSG00000198033		"""Tubulins"""	12408	protein-coding gene	gene with protein product		602528	"""tubulin, alpha 2"""	TUBA2		9465305	Standard	NM_006001		Approved	bA408E5.3	uc009zzj.3	Q13748	OTTHUMG00000016481	ENST00000400113.3:c.831A>G	13.37:g.19751292T>C		Somatic	0	96	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	49	14.04	A6NJQ0|Q5W099|Q6PEY3|Q96F18	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin	p.S277	ENST00000400113.3	37	c.831	CCDS9284.1	13																																																																																			-	pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin		0.612	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	TUBA3C	protein_coding	OTTHUMT00000044007.2	T	NM_006001	rs147482964		19751292	-1	no_errors	ENST00000400113	ensembl	human	known	74_37	silent	SNP	0.934	C
CAMK2B	816	genome.wustl.edu	37	7	44294196	44294196	+	Missense_Mutation	SNP	C	C	A			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr7:44294196C>A	ENST00000395749.2	-	5	362	c.286G>T	c.(286-288)Ggg>Tgg	p.G96W	CAMK2B_ENST00000457475.1_Missense_Mutation_p.G96W|CAMK2B_ENST00000358707.3_Missense_Mutation_p.G96W|CAMK2B_ENST00000440254.2_Missense_Mutation_p.G96W|CAMK2B_ENST00000346990.4_Missense_Mutation_p.G96W|CAMK2B_ENST00000353625.4_Missense_Mutation_p.G96W|CAMK2B_ENST00000347193.4_Missense_Mutation_p.G96W|CAMK2B_ENST00000502837.2_Intron|CAMK2B_ENST00000395747.2_Missense_Mutation_p.G96W|CAMK2B_ENST00000350811.3_Missense_Mutation_p.G96W|CAMK2B_ENST00000258682.6_Missense_Mutation_p.G96W	NM_001220.4	NP_001211.3	Q13554	KCC2B_HUMAN	calcium/calmodulin-dependent protein kinase II beta	96	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of meiosis involved in egg activation (GO:0060466)|calcium ion transport (GO:0006816)|cytokine-mediated signaling pathway (GO:0019221)|G1/S transition of mitotic cell cycle (GO:0000082)|inhibitory G-protein coupled receptor phosphorylation (GO:0002030)|interferon-gamma-mediated signaling pathway (GO:0060333)|neuromuscular process controlling balance (GO:0050885)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of neuron projection development (GO:0010976)|positive regulation of synapse maturation (GO:0090129)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of calcium ion transport (GO:0051924)|regulation of dendritic spine development (GO:0060998)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of skeletal muscle adaptation (GO:0014733)|regulation of synapse structural plasticity (GO:0051823)|regulation of synaptic transmission, cholinergic (GO:0032222)|response to cadmium ion (GO:0046686)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						AAGAGCTCCCCACCAGTGACC	0.552																																																	0								ENSG00000058404						137.0	119.0	125.0					7																	44294196		2203	4300	6503	CAMK2B	SO:0001583	missense	0			-	HGNC	U50358	CCDS5483.1, CCDS5484.1, CCDS5485.1, CCDS5486.1, CCDS5487.1, CCDS5488.1, CCDS5489.1, CCDS43573.1	7p14.3-p14.1	2008-10-30	2008-10-30		ENSG00000058404	ENSG00000058404			1461	protein-coding gene	gene with protein product	"""CaM-kinase II beta chain"", ""calcium/calmodulin-dependent protein kinase type II beta chain"", ""CaM kinase II beta subunit"", ""proline rich calmodulin-dependent protein kinase"""	607707	"""calcium/calmodulin-dependent protein kinase (CaM kinase) II beta"""	CAMKB			Standard	NM_172079		Approved	CAM2, CAMK2	uc003tkq.2	Q13554	OTTHUMG00000023491	ENST00000395749.2:c.286G>T	7.37:g.44294196C>A	ENSP00000379098:p.Gly96Trp	Somatic	0	47	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	52	20.00	A4D2K0|A4D2K1|A4D2K2|A4D2K3|A4D2K4|A4D2K5|A4D2K6|O95437|O95438|O95599|Q9UGH7|Q9UGH8|Q9UGH9|Q9UNX0|Q9UNX7|Q9UP00|Q9Y5N4|Q9Y6F4	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Prot_kinase_dom,pfam_Ca/CaM-dep_prot_kinase-assoc,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_dom	p.G96W	ENST00000395749.2	37	c.286	CCDS5483.1	7	.	.	.	.	.	.	.	.	.	.	C	20.5	4.001188	0.74818	.	.	ENSG00000058404	ENST00000350811;ENST00000457475;ENST00000395749;ENST00000440254;ENST00000358707;ENST00000353625;ENST00000347193;ENST00000346990;ENST00000258682;ENST00000395747;ENST00000415369;ENST00000424197;ENST00000421607	T;T;T;T;T;T;T;T;T;T;T;T;T	0.39056	1.1;1.1;1.1;1.1;1.1;1.1;1.1;1.1;1.1;1.1;1.1;1.1;1.1	3.6	3.6	0.41247	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.76278	0.3965	H	0.97783	4.075	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.97110	0.999;0.993;0.999;0.998;0.953;0.999;0.999;1.0;0.997	D	0.85776	0.1358	9	0.87932	D	0	.	14.0541	0.64756	0.0:1.0:0.0:0.0	.	96;96;96;96;96;96;96;96;96	Q13554-8;Q13554-7;Q13554-4;Q13554-3;Q13554-6;A4D2K5;Q13554-5;Q13554;Q13554-2	.;.;.;.;.;.;.;KCC2B_HUMAN;.	W	96;96;96;96;96;96;96;96;96;96;112;96;96	ENSP00000326375:G96W;ENSP00000390292:G96W;ENSP00000379098:G96W;ENSP00000397937:G96W;ENSP00000351542:G96W;ENSP00000326427:G96W;ENSP00000326544:G96W;ENSP00000326518:G96W;ENSP00000258682:G96W;ENSP00000379096:G96W;ENSP00000390419:G112W;ENSP00000400387:G96W;ENSP00000388445:G96W	ENSP00000258682:G96W	G	-	1	0	CAMK2B	44260721	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.683000	0.74533	1.572000	0.49736	0.465000	0.42564	GGG	-	pfam_Prot_kinase_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_dom		0.552	CAMK2B-002	KNOWN	basic|CCDS	protein_coding	CAMK2B	protein_coding	OTTHUMT00000251138.2	C	NM_172084	-		44294196	-1	no_errors	ENST00000395749	ensembl	human	known	74_37	missense	SNP	1.000	A
SRPK2	6733	genome.wustl.edu	37	7	104844171	104844171	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr7:104844171G>T	ENST00000393651.3	-	3	220	c.133C>A	c.(133-135)Ccg>Acg	p.P45T	SRPK2_ENST00000357311.3_Missense_Mutation_p.P34T|SRPK2_ENST00000489828.1_Missense_Mutation_p.P34T	NM_182692.1	NP_872634.1			SRSF protein kinase 2											NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						AAAggtggcggtggtggtggt	0.557																																																	0								ENSG00000135250						47.0	42.0	44.0					7																	104844171		2203	4300	6503	SRPK2	SO:0001583	missense	0			-	HGNC	U88666	CCDS5735.1, CCDS34724.1	7q22-q31.1	2010-06-23	2010-06-23		ENSG00000135250	ENSG00000135250			11306	protein-coding gene	gene with protein product	"""SR protein kinase 2"", ""serine/arginine-rich splicing factor kinase 2"""	602980	"""SFRS protein kinase 2"""			8208298, 9472028	Standard	NM_182692		Approved	SFRSK2	uc003vcv.4	P78362	OTTHUMG00000157405	ENST00000393651.3:c.133C>A	7.37:g.104844171G>T	ENSP00000377262:p.Pro45Thr	Somatic	0	43	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	41	32.79		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Prot_kinase_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_dom	p.P45T	ENST00000393651.3	37	c.133	CCDS34724.1	7	.	.	.	.	.	.	.	.	.	.	G	15.73	2.919005	0.52546	.	.	ENSG00000135250	ENST00000393651;ENST00000357311;ENST00000489828;ENST00000482897;ENST00000460391	D;D;D;T;T	0.86865	-2.18;-2.18;-2.18;0.76;0.76	6.04	6.04	0.98038	.	0.142511	0.45361	D	0.000373	D	0.89054	0.6606	L	0.27053	0.805	0.58432	D	0.999998	D;D	0.89917	1.0;0.998	D;D	0.87578	0.998;0.987	D	0.85244	0.1040	10	0.18276	T	0.48	-11.3591	18.3674	0.90396	0.0:0.0:1.0:0.0	.	45;34	P78362-2;P78362	.;SRPK2_HUMAN	T	45;34;34;82;34	ENSP00000377262:P45T;ENSP00000349863:P34T;ENSP00000419791:P34T;ENSP00000419240:P82T;ENSP00000417357:P34T	ENSP00000349863:P34T	P	-	1	0	SRPK2	104631407	1.000000	0.71417	0.747000	0.31113	0.590000	0.36582	9.036000	0.93758	2.873000	0.98535	0.561000	0.74099	CCG	-	NULL		0.557	SRPK2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SRPK2	protein_coding	OTTHUMT00000348723.1	G	NM_182691	-		104844171	-1	no_errors	ENST00000393651	ensembl	human	known	74_37	missense	SNP	1.000	T
HDC	3067	genome.wustl.edu	37	15	50534992	50534992	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr15:50534992G>A	ENST00000267845.3	-	12	1856	c.1454C>T	c.(1453-1455)cCt>cTt	p.P485L	RN7SL494P_ENST00000461517.2_RNA|HDC_ENST00000543581.1_Missense_Mutation_p.P452L	NM_002112.3	NP_002103.2	Q9UBI9	HDC_HUMAN	histidine decarboxylase	0					respiratory tube development (GO:0030323)	membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)		CCCAACCCGAGGGCTGGGTTG	0.562																																					GBM(95;1627 1936 6910 9570)												0								ENSG00000140287						43.0	47.0	46.0					15																	50534992		2196	4295	6491	HDC	SO:0001583	missense	0			-	HGNC		CCDS10134.1	15q21.2	2013-09-20			ENSG00000140287	ENSG00000140287	4.1.1.22		4855	protein-coding gene	gene with protein product		142704				1487235	Standard	NM_002112		Approved		uc001zxz.3	P19113	OTTHUMG00000131644	ENST00000267845.3:c.1454C>T	15.37:g.50534992G>A	ENSP00000267845:p.Pro485Leu	Somatic	0	42	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	14	46.15		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase,prints_Aromatic_deC	p.P485L	ENST00000267845.3	37	c.1454	CCDS10134.1	15	.	.	.	.	.	.	.	.	.	.	G	12.50	1.955555	0.34471	.	.	ENSG00000140287	ENST00000267845;ENST00000543581	T;T	0.09538	3.08;2.97	5.95	5.02	0.67125	.	0.377447	0.26867	N	0.022081	T	0.10680	0.0261	L	0.34521	1.04	0.46749	D	0.999181	B;P	0.38922	0.329;0.651	B;B	0.36030	0.077;0.216	T	0.04635	-1.0937	10	0.66056	D	0.02	-10.1816	15.4985	0.75677	0.0:0.1378:0.8622:0.0	.	452;485	B7ZM01;P19113	.;DCHS_HUMAN	L	485;452	ENSP00000267845:P485L;ENSP00000440252:P452L	ENSP00000267845:P485L	P	-	2	0	HDC	48322284	0.986000	0.35501	0.953000	0.39169	0.405000	0.30901	5.856000	0.69518	1.504000	0.48704	0.563000	0.77884	CCT	-	NULL		0.562	HDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDC	protein_coding	OTTHUMT00000254540.1	G		-		50534992	-1	no_errors	ENST00000267845	ensembl	human	known	74_37	missense	SNP	0.924	A
LOC285556	285556	genome.wustl.edu	37	4	100575157	100575157	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr4:100575157G>T	ENST00000511828.1	-	1	648	c.649C>A	c.(649-651)Cac>Aac	p.H217N																								CCAGGGCAGTGCCCCAGGGTA	0.582																																																	0								ENSG00000248713																																			RP11-766F14.2	SO:0001583	missense	0			-	Clone_based_vega_gene																												ENST00000511828.1:c.649C>A	4.37:g.100575157G>T	ENSP00000427555:p.His217Asn	Somatic	0	39	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	19	20.83		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.H217N	ENST00000511828.1	37	c.649		4	.	.	.	.	.	.	.	.	.	.	G	1.261	-0.615745	0.03663	.	.	ENSG00000248713	ENST00000511828	D	0.97772	-4.53	3.99	0.407	0.16371	.	.	.	.	.	D	0.89694	0.6789	N	0.08118	0	.	.	.	.	.	.	.	.	.	D	0.84111	0.0401	6	0.09084	T	0.74	.	4.4808	0.11766	0.3926:0.2071:0.4003:0.0	.	.	.	.	N	217	ENSP00000427555:H217N	ENSP00000427555:H217N	H	-	1	0	RP11-766F14.2	100794180	0.000000	0.05858	0.000000	0.03702	0.066000	0.16364	0.343000	0.19944	0.028000	0.15324	0.655000	0.94253	CAC	-	NULL		0.582	RP11-766F14.2-001	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	LOC285556	protein_coding	OTTHUMT00000365456.1	G		-		100575157	-1	no_errors	ENST00000511828	ensembl	human	putative	74_37	missense	SNP	0.000	T
CD1C	911	genome.wustl.edu	37	1	158261127	158261127	+	Missense_Mutation	SNP	C	C	T	rs145638725		TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr1:158261127C>T	ENST00000368170.3	+	2	544	c.265C>T	c.(265-267)Cgt>Tgt	p.R89C		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	89					antigen processing and presentation (GO:0019882)|T cell activation involved in immune response (GO:0002286)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	endogenous lipid antigen binding (GO:0030883)|exogenous lipid antigen binding (GO:0030884)|glycolipid binding (GO:0051861)|lipopeptide binding (GO:0071723)	p.R89C(1)		NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					GTTGTTATTTCGTTTCTACCT	0.398																																																	1	Substitution - Missense(1)	skin(1)						ENSG00000158481						111.0	108.0	109.0					1																	158261127		2203	4300	6503	CD1C	SO:0001583	missense	0			-	HGNC	M28827	CCDS1175.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158481	ENSG00000158481		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1636	protein-coding gene	gene with protein product		188340	"""CD1C antigen, c polypeptide"", ""CD1c antigen"""	CD1		2447586	Standard	NM_001765		Approved		uc001fru.3	P29017	OTTHUMG00000017514	ENST00000368170.3:c.265C>T	1.37:g.158261127C>T	ENSP00000357152:p.Arg89Cys	Somatic	0	62	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	14	64.10	Q5TDJ7|Q6IAS4|Q9UMM0|Q9UN96	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom	p.R89C	ENST00000368170.3	37	c.265	CCDS1175.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	-|-	8.579|8.579	0.881755|0.881755	0.17467|0.17467	.|.	.|.	ENSG00000158481|ENSG00000158481	ENST00000368169;ENST00000368170|ENST00000443761	T|.	0.08102|.	3.13|.	3.52|3.52	-3.21|-3.21	0.05140|0.05140	MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);|.	0.543957|.	0.14309|.	N|.	0.327809|.	T|T	0.32823|0.32823	0.0842|0.0842	M|M	0.72894|0.72894	2.215|2.215	0.09310|0.09310	N|N	1|1	B|.	0.33841|.	0.428|.	B|.	0.18561|.	0.022|.	T|T	0.47623|0.47623	-0.9103|-0.9103	10|5	0.87932|.	D|.	0|.	.|.	9.3198|9.3198	0.37957|0.37957	0.0:0.2985:0.0:0.7015|0.0:0.2985:0.0:0.7015	.|.	89|.	P29017|.	CD1C_HUMAN|.	C|L	89|23	ENSP00000357152:R89C|.	ENSP00000357151:R89C|.	R|S	+|+	1|2	0|0	CD1C|CD1C	156527751|156527751	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-0.106000|-0.106000	0.10890|0.10890	-0.744000|-0.744000	0.04778|0.04778	-0.781000|-0.781000	0.03364|0.03364	CGT|TCG	-	superfamily_MHC_I/II-like_Ag-recog		0.398	CD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD1C	protein_coding	OTTHUMT00000046351.2	C	NM_001765	rs145638725		158261127	+1	no_errors	ENST00000368170	ensembl	human	known	74_37	missense	SNP	0.000	T
DPP6	1804	genome.wustl.edu	37	7	153584779	153584779	+	Missense_Mutation	SNP	A	A	T			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr7:153584779A>T	ENST00000404039.1	+	1	598	c.11A>T	c.(10-12)aAg>aTg	p.K4M		NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	0					cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			ATGAAGGAAAAGGCCATGATC	0.567																																					NSCLC(125;1384 1783 2490 7422 34254)												0								ENSG00000130226						62.0	60.0	60.0					7																	153584779		1568	3582	5150	DPP6	SO:0001583	missense	0			-	HGNC	M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"""dipeptidylpeptidase VI"", ""dipeptidylpeptidase 6"""			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000404039.1:c.11A>T	7.37:g.153584779A>T	ENSP00000385578:p.Lys4Met	Somatic	0	80	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	31	11.43		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_PD40	p.K4M	ENST00000404039.1	37	c.11		7	.	.	.	.	.	.	.	.	.	.	A	20.8	4.044218	0.75732	.	.	ENSG00000130226	ENST00000404039	T	0.15017	2.46	4.93	4.93	0.64822	.	.	.	.	.	T	0.38081	0.1027	.	.	.	0.80722	D	1	D	0.76494	0.999	D	0.74674	0.984	T	0.13282	-1.0515	8	0.49607	T	0.09	.	10.9917	0.47553	1.0:0.0:0.0:0.0	.	4	E9PF59	.	M	4	ENSP00000385578:K4M	ENSP00000385578:K4M	K	+	2	0	DPP6	153215712	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.432000	0.59922	1.848000	0.53677	0.455000	0.32223	AAG	-	NULL		0.567	DPP6-001	PUTATIVE	basic	protein_coding	DPP6	protein_coding	OTTHUMT00000322930.1	A	NM_130797	-		153584779	+1	no_errors	ENST00000404039	ensembl	human	putative	74_37	missense	SNP	1.000	T
SP110	3431	genome.wustl.edu	37	2	231033633	231033634	+	IGR	INS	-	-	TTAATTT	rs199688989|rs201368960|rs5839361|rs33940219|rs71049638	byFrequency	TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr2:231033633_231033634insTTAATTT	ENST00000358662.4	-	0	2337				AC009950.2_ENST00000445199.1_RNA|AC009950.2_ENST00000609120.1_RNA|SP110_ENST00000258381.6_Intron	NM_004509.3	NP_004500	Q9HB58	SP110_HUMAN	SP110 nuclear body protein						regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)		ggaagtattaatttttttTTTT	0.332																																																	0								ENSG00000135899																																			SP110	SO:0001628	intergenic_variant	0				HGNC	L22343	CCDS2474.1, CCDS2475.1, CCDS2476.1, CCDS54435.1	2q37.1	2014-09-17	2001-12-19	2001-12-20	ENSG00000135899	ENSG00000135899			5401	protein-coding gene	gene with protein product		604457	"""interferon-induced protein 41, 30kD"""	IFI41, IFI75		7693701, 10388521	Standard	NM_080424		Approved		uc002vqg.3	Q9HB58	OTTHUMG00000133204		2.37:g.231033633_231033634insTTAATTT		Somatic	NA	NA	NA		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	B4DVI4|F5H1M1|Q14976|Q14977|Q53TG2|Q8WUZ6|Q9HCT8	RNA	INS	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000358662.4	37	NULL	CCDS2474.1	2																																																																																			-	-		0.332	SP110-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	SP110	protein_coding	OTTHUMT00000332414.1	-	NM_080424			231033634	-1	no_errors	ENST00000480916	ensembl	human	known	74_37	rna	INS	0.001:0.002	TTAATTT
ADAMTS20	80070	genome.wustl.edu	37	12	43821218	43821218	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr12:43821218C>A	ENST00000389420.3	-	27	3999	c.4000G>T	c.(4000-4002)Gaa>Taa	p.E1334*	ADAMTS20_ENST00000395541.2_Nonsense_Mutation_p.E452*|ADAMTS20_ENST00000553158.1_Nonsense_Mutation_p.E1334*	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1334	TSP type-1 9. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TGTCCATTTTCATCCTGGCAG	0.488																																																	0								ENSG00000173157						116.0	86.0	96.0					12																	43821218		2203	4300	6503	ADAMTS20	SO:0001587	stop_gained	0			-	HGNC	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.4000G>T	12.37:g.43821218C>A	ENSP00000374071:p.Glu1334*	Somatic	0	43	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	A6NNC9|J3QT00	Nonsense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.E1334*	ENST00000389420.3	37	c.4000	CCDS31778.2	12	.	.	.	.	.	.	.	.	.	.	C	42	9.674013	0.99236	.	.	ENSG00000173157	ENST00000389420;ENST00000549670;ENST00000395541;ENST00000553158;ENST00000389417	.	.	.	4.94	4.94	0.65067	.	0.000000	0.53938	D	0.000052	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	19.0406	0.92997	0.0:1.0:0.0:0.0	.	.	.	.	X	1334;464;452;1334;1334	.	ENSP00000374068:E1334X	E	-	1	0	ADAMTS20	42107485	1.000000	0.71417	0.990000	0.47175	0.873000	0.50193	5.541000	0.67212	2.670000	0.90874	0.650000	0.86243	GAA	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.488	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS20	protein_coding	OTTHUMT00000403643.1	C	NM_025003	-		43821218	-1	no_errors	ENST00000389420	ensembl	human	known	74_37	nonsense	SNP	1.000	A
AGGF1	55109	genome.wustl.edu	37	5	76358970	76358970	+	Nonsense_Mutation	SNP	A	A	T			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr5:76358970A>T	ENST00000312916.7	+	14	2420	c.2038A>T	c.(2038-2040)Aaa>Taa	p.K680*		NM_018046.4	NP_060516.2	Q8N302	AGGF1_HUMAN	angiogenic factor with G patch and FHA domains 1	680					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|RNA processing (GO:0006396)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	nucleic acid binding (GO:0003676)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)		CAAGAACAAAAAAAACTGGGA	0.463																																																	0								ENSG00000164252						143.0	156.0	152.0					5																	76358970		2203	4300	6503	AGGF1	SO:0001587	stop_gained	0			-	HGNC	AK001145	CCDS4035.1	5q13.3	2013-10-11			ENSG00000164252	ENSG00000164252		"""G patch domain containing"""	24684	protein-coding gene	gene with protein product		608464				18564129, 17103452	Standard	NM_018046		Approved	VG5Q, HSU84971, FLJ10283, GPATC7, GPATCH7	uc003ket.3	Q8N302	OTTHUMG00000102132	ENST00000312916.7:c.2038A>T	5.37:g.76358970A>T	ENSP00000316109:p.Lys680*	Somatic	0	29	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	21	27.59	O00581|Q53YS3|Q9BU84|Q9NW66	Nonsense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_FHA_dom,pfam_G_patch_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_G_patch_dom,pfscan_FHA_dom,pfscan_G_patch_dom	p.K680*	ENST00000312916.7	37	c.2038	CCDS4035.1	5	.	.	.	.	.	.	.	.	.	.	A	42	9.560002	0.99205	.	.	ENSG00000164252	ENST00000312916	.	.	.	5.47	5.47	0.80525	.	0.092425	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-23.2821	15.5576	0.76208	1.0:0.0:0.0:0.0	.	.	.	.	X	680	.	ENSP00000316109:K680X	K	+	1	0	AGGF1	76394726	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.938000	0.75904	2.073000	0.62155	0.528000	0.53228	AAA	-	NULL		0.463	AGGF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGGF1	protein_coding	OTTHUMT00000219971.2	A	NM_018046	-		76358970	+1	no_errors	ENST00000312916	ensembl	human	known	74_37	nonsense	SNP	1.000	T
SSPO	23145	genome.wustl.edu	37	7	149489488	149489488	+	RNA	SNP	C	C	A			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr7:149489488C>A	ENST00000378016.2	+	0	5641							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTGGCCTGGGCAACGCATCAA	0.706																																																	0								ENSG00000197558						14.0	21.0	19.0					7																	149489488		2134	4222	6356	SSPO			0			-	HGNC	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149489488C>A		Somatic	0	98	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	63	22.22	Q76B61	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000378016.2	37	NULL		7																																																																																			-	-		0.706	SSPO-202	KNOWN	basic	processed_transcript	SSPO	processed_transcript		C		-		149489488	+1	no_errors	ENST00000262089	ensembl	human	known	74_37	rna	SNP	1.000	A
STAG1	10274	genome.wustl.edu	37	3	136085903	136085903	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr3:136085903G>T	ENST00000383202.2	-	25	2823	c.2567C>A	c.(2566-2568)gCt>gAt	p.A856D	STAG1_ENST00000536929.1_Missense_Mutation_p.A440D|STAG1_ENST00000236698.5_Missense_Mutation_p.A856D|STAG1_ENST00000434713.2_Missense_Mutation_p.A630D	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	856					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						AATTTTATTAGCTTCATCTTC	0.343																																																	0								ENSG00000118007						216.0	209.0	211.0					3																	136085903		2202	4299	6501	STAG1	SO:0001583	missense	0			-	HGNC	Z75330	CCDS3090.1	3q22.2-q22.3	2011-08-12			ENSG00000118007	ENSG00000118007			11354	protein-coding gene	gene with protein product		604358				9305759	Standard	XM_006713471		Approved	SA-1, SCC3A	uc003era.1	Q8WVM7	OTTHUMG00000159798	ENST00000383202.2:c.2567C>A	3.37:g.136085903G>T	ENSP00000372689:p.Ala856Asp	Somatic	0	53	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.33	O00539|Q6P275	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_STAG,superfamily_ARM-type_fold	p.A856D	ENST00000383202.2	37	c.2567	CCDS3090.1	3	.	.	.	.	.	.	.	.	.	.	G	19.55	3.848324	0.71603	.	.	ENSG00000118007	ENST00000383202;ENST00000236698;ENST00000434713;ENST00000536929	T;T;T;T	0.34472	1.79;1.8;1.88;1.36	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.64091	0.2567	M	0.82923	2.615	0.80722	D	1	D;P	0.89917	1.0;0.63	D;B	0.91635	0.999;0.248	T	0.58803	-0.7572	10	0.19147	T	0.46	.	20.04	0.97581	0.0:0.0:1.0:0.0	.	856;856	Q6P275;Q8WVM7	.;STAG1_HUMAN	D	856;856;630;440	ENSP00000372689:A856D;ENSP00000236698:A856D;ENSP00000404396:A630D;ENSP00000445787:A440D	ENSP00000236698:A856D	A	-	2	0	STAG1	137568593	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.869000	0.99810	2.733000	0.93635	0.655000	0.94253	GCT	-	NULL		0.343	STAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAG1	protein_coding	OTTHUMT00000357366.1	G	NM_005862	-		136085903	-1	no_errors	ENST00000383202	ensembl	human	known	74_37	missense	SNP	1.000	T
BRCA2	675	genome.wustl.edu	37	13	32914820	32914820	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr13:32914820G>T	ENST00000380152.3	+	11	6561	c.6328G>T	c.(6328-6330)Gat>Tat	p.D2110Y	BRCA2_ENST00000544455.1_Missense_Mutation_p.D2110Y			P51587	BRCA2_HUMAN	breast cancer 2, early onset	2110					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)		TCCTCGTGTTGATAAGAGAAA	0.338			"""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)		yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	familial breast/ovarian cancer gene 2		"""L, E"""	0								ENSG00000139618						41.0	43.0	42.0					13																	32914820		2203	4297	6500	BRCA2	SO:0001583	missense	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)	-	HGNC	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.6328G>T	13.37:g.32914820G>T	ENSP00000369497:p.Asp2110Tyr	Somatic	0	50	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	22	12.00	O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	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,pirsf_BRCA2,pfscan_BRCA2_repeat	p.D2110Y	ENST00000380152.3	37	c.6328	CCDS9344.1	13	.	.	.	.	.	.	.	.	.	.	G	9.011	0.982469	0.18889	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.00848	5.62;5.62	5.49	3.76	0.43208	.	1.031150	0.07651	N	0.932003	T	0.02119	0.0066	L	0.54323	1.7	0.26033	N	0.981716	P	0.47409	0.895	P	0.45946	0.498	T	0.52586	-0.8556	10	0.56958	D	0.05	.	10.2794	0.43530	0.1531:0.0:0.8469:0.0	.	2110	P51587	BRCA2_HUMAN	Y	2110	ENSP00000369497:D2110Y;ENSP00000439902:D2110Y	ENSP00000369497:D2110Y	D	+	1	0	BRCA2	31812820	0.037000	0.19845	0.019000	0.16419	0.340000	0.28889	1.995000	0.40767	0.690000	0.31570	0.591000	0.81541	GAT	-	pirsf_BRCA2		0.338	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRCA2	protein_coding	OTTHUMT00000046000.2	G	NM_000059	-		32914820	+1	no_errors	ENST00000380152	ensembl	human	known	74_37	missense	SNP	0.598	T
PBX2P1	5088	genome.wustl.edu	37	3	142897272	142897273	+	RNA	INS	-	-	TTG	rs564845634		TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr3:142897272_142897273insTTG	ENST00000560287.1	+	0	2146_2147									pre-B-cell leukemia homeobox 2 pseudogene 1																		AAGTAGCTTGtttttttttttt	0.332																																																	0								ENSG00000244171																																			PBX2P1			0				HGNC			3q24	2014-03-25	2007-01-30	2007-01-30	ENSG00000244171	ENSG00000244171		"""Homeoboxes / TALE class"""	8635	pseudogene	pseudogene			"""pre-B-cell leukemia transcription factor pseudogene 1"""	PBX2, PBXP1		1682799	Standard	NG_002434		Approved				OTTHUMG00000159350		3.37:g.142897272_142897273insTTG		Somatic	0	19	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	24	11.11		RNA	INS	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000560287.1	37	NULL		3																																																																																			-	-		0.332	PBX2P1-002	KNOWN	basic	processed_transcript	PBX2P1	pseudogene	OTTHUMT00000417717.1	-	NG_002434			142897273	+1	no_errors	ENST00000560287	ensembl	human	known	74_37	rna	INS	0.085:0.057	TTG
WNK3	65267	genome.wustl.edu	37	X	54263641	54263641	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chrX:54263641G>A	ENST00000375159.2	-	19	4357	c.4358C>T	c.(4357-4359)tCt>tTt	p.S1453F	WNK3_ENST00000354646.2_Missense_Mutation_p.S1453F|WNK3_ENST00000375169.3_Missense_Mutation_p.S1406F			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	1453					intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of ion transmembrane transporter activity (GO:0032414)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of rubidium ion transmembrane transporter activity (GO:2000688)|positive regulation of rubidium ion transport (GO:2000682)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						CAACAGTTCAGATCCAGACTG	0.448																																																	0								ENSG00000196632						82.0	70.0	74.0					X																	54263641		2203	4300	6503	WNK3	SO:0001583	missense	0			-	HGNC	AJ409088	CCDS14357.1, CCDS35302.1	Xp11.22	2008-05-14	2005-01-19	2005-01-22	ENSG00000196632	ENSG00000196632			14543	protein-coding gene	gene with protein product		300358	"""protein kinase, lysine deficient 3"""	PRKWNK3			Standard	NM_020922		Approved		uc004dtc.2	Q9BYP7	OTTHUMG00000021626	ENST00000375159.2:c.4358C>T	X.37:g.54263641G>A	ENSP00000364301:p.Ser1453Phe	Somatic	0	61	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	37	36	50.68	B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.S1453F	ENST00000375159.2	37	c.4358	CCDS14357.1	X	.	.	.	.	.	.	.	.	.	.	G	2.266	-0.368026	0.05069	.	.	ENSG00000196632	ENST00000375169;ENST00000354646;ENST00000375159	T;T;T	0.71461	-0.56;-0.57;-0.57	5.1	2.22	0.28083	.	0.760567	0.11758	N	0.532360	T	0.55561	0.1928	L	0.27053	0.805	0.09310	N	1	P;P	0.38440	0.631;0.498	B;B	0.39904	0.313;0.166	T	0.46386	-0.9195	10	0.48119	T	0.1	-1.5407	4.5674	0.12193	0.268:0.0:0.5752:0.1567	.	1406;1453	Q9BYP7-3;Q9BYP7	.;WNK3_HUMAN	F	1406;1453;1453	ENSP00000364312:S1406F;ENSP00000346667:S1453F;ENSP00000364301:S1453F	ENSP00000346667:S1453F	S	-	2	0	WNK3	54280366	0.004000	0.15560	0.003000	0.11579	0.003000	0.03518	0.988000	0.29616	0.406000	0.25560	-0.176000	0.13171	TCT	-	NULL		0.448	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WNK3	protein_coding	OTTHUMT00000056799.2	G	NM_020922	-		54263641	-1	no_errors	ENST00000354646	ensembl	human	known	74_37	missense	SNP	0.000	A
FABP1	2168	genome.wustl.edu	37	2	88427556	88427556	+	5'UTR	SNP	C	C	G			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr2:88427556C>G	ENST00000295834.3	-	0	79				FABP1_ENST00000495375.1_5'UTR|FABP1_ENST00000393750.3_5'UTR	NM_001443.2	NP_001434.1	P07148	FABPL_HUMAN	fatty acid binding protein 1, liver						cellular lipid metabolic process (GO:0044255)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|intestinal absorption (GO:0050892)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of hydrolase activity (GO:0051345)|small molecule metabolic process (GO:0044281)	apical cortex (GO:0045179)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|peroxisomal matrix (GO:0005782)	antioxidant activity (GO:0016209)|bile acid binding (GO:0032052)|chromatin binding (GO:0003682)|drug binding (GO:0008144)|fatty acid binding (GO:0005504)|long-chain fatty acid transporter activity (GO:0005324)|phospholipid binding (GO:0005543)			kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1)	6						AGAGCTCCCTCTTCACGACTG	0.552																																																	0								ENSG00000163586						120.0	105.0	110.0					2																	88427556		2203	4300	6503	FABP1	SO:0001623	5_prime_UTR_variant	0			-	HGNC	M10617	CCDS2001.1	2p11	2013-03-01			ENSG00000163586	ENSG00000163586		"""Fatty acid binding protein family"""	3555	protein-coding gene	gene with protein product		134650				3012800, 17698986	Standard	NM_001443		Approved	L-FABP	uc002sst.2	P07148	OTTHUMG00000130312	ENST00000295834.3:c.-20G>C	2.37:g.88427556C>G		Somatic	0	43	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	32	28.89		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000295834.3	37	NULL	CCDS2001.1	2																																																																																			-	-		0.552	FABP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FABP1	protein_coding	OTTHUMT00000252660.1	C	NM_001443	-		88427556	-1	no_errors	ENST00000495375	ensembl	human	known	74_37	rna	SNP	0.000	G
SEPT10	151011	genome.wustl.edu	37	2	110310685	110310685	+	Missense_Mutation	SNP	T	T	C			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr2:110310685T>C	ENST00000397712.2	-	9	1518	c.1140A>G	c.(1138-1140)atA>atG	p.I380M	SEPT10_ENST00000415095.1_Missense_Mutation_p.I380M|SEPT10_ENST00000334001.6_Missense_Mutation_p.I247M|SEPT10_ENST00000356688.4_Missense_Mutation_p.I380M|SEPT10_ENST00000397714.2_Missense_Mutation_p.I357M|SEPT10_ENST00000545389.1_Missense_Mutation_p.I213M|SEPT10_ENST00000468616.1_Intron|SEPT10_ENST00000437928.1_Missense_Mutation_p.I365M	NM_144710.3	NP_653311.1	Q9P0V9	SEP10_HUMAN	septin 10	380					cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)			breast(2)|endometrium(3)|large_intestine(4)|lung(8)|prostate(1)	18						CTTCTTTCAATATGGCTTCTT	0.378																																																	0								ENSG00000186522						207.0	208.0	208.0					2																	110310685		1917	4143	6060	SEPT10	SO:0001583	missense	0			-	HGNC	AF146760	CCDS42726.1, CCDS46383.1	2q13	2013-01-21			ENSG00000186522	ENSG00000186522		"""Septins"""	14349	protein-coding gene	gene with protein product	"""sept1-like"""	611737				12711328	Standard	NM_144710		Approved	FLJ11619	uc002tew.4	Q9P0V9	OTTHUMG00000154957	ENST00000397712.2:c.1140A>G	2.37:g.110310685T>C	ENSP00000380824:p.Ile380Met	Somatic	0	38	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	9.09	B3KRQ9|Q86VP5|Q9HAH6	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase,pirsf_Septin	p.I380M	ENST00000397712.2	37	c.1140	CCDS46383.1	2	.	.	.	.	.	.	.	.	.	.	T	9.234	1.036646	0.19669	.	.	ENSG00000186522	ENST00000356688;ENST00000397712;ENST00000397714;ENST00000334001;ENST00000437928;ENST00000545389;ENST00000415095	D;D;D;D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74;-1.74;-1.74;-1.74	4.91	-9.82	0.00484	.	0.230078	0.28125	N	0.016507	T	0.55986	0.1955	N	0.14661	0.345	0.09310	N	1	B;P;P;B;B	0.43633	0.148;0.813;0.593;0.23;0.129	B;B;B;B;B	0.40901	0.092;0.151;0.343;0.188;0.092	T	0.56974	-0.7890	10	0.72032	D	0.01	.	1.1067	0.01695	0.1736:0.245:0.2886:0.2928	.	247;213;380;357;380	B7Z371;B7Z277;B5ME97;Q9P0V9-3;Q9P0V9	.;.;.;.;SEP10_HUMAN	M	380;380;357;247;365;213;380	ENSP00000349116:I380M;ENSP00000380824:I380M;ENSP00000380826:I357M;ENSP00000334234:I247M;ENSP00000407790:I365M;ENSP00000439364:I213M;ENSP00000396728:I380M	ENSP00000334234:I247M	I	-	3	3	SEPT10	109667974	0.000000	0.05858	0.002000	0.10522	0.018000	0.09664	-1.572000	0.02136	-1.334000	0.02244	-0.468000	0.05107	ATA	-	pirsf_Septin		0.378	SEPT10-001	KNOWN	basic|CCDS	protein_coding	SEPT10	protein_coding	OTTHUMT00000337804.1	T	NM_144710	-		110310685	-1	no_errors	ENST00000397712	ensembl	human	known	74_37	missense	SNP	0.005	C
CTB-52I2.4	0	genome.wustl.edu	37	19	18142570	18142570	+	RNA	SNP	G	G	T			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr19:18142570G>T	ENST00000594957.3	+	0	1331																											TAAGTTGGTTGCTCAGCTATG	0.493																																																	0								ENSG00000268032																																			CTB-52I2.4			0			-	Clone_based_vega_gene																													19.37:g.18142570G>T		Somatic	0	36	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	55	19.12		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000594957.3	37	NULL		19																																																																																			-	-		0.493	CTB-52I2.4-002	KNOWN	basic	processed_transcript	ENSG00000268032	pseudogene	OTTHUMT00000466852.4	G		-		18142570	+1	no_errors	ENST00000594957	ensembl	human	known	74_37	rna	SNP	1.000	T
ASPHD2	57168	genome.wustl.edu	37	22	26839163	26839163	+	Silent	SNP	G	G	T	rs377666159		TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr22:26839163G>T	ENST00000215906.5	+	4	1539	c.1101G>T	c.(1099-1101)ccG>ccT	p.P367P	HPS4_ENST00000493455.2_5'Flank	NM_020437.4	NP_065170.2	Q6ICH7	ASPH2_HUMAN	aspartate beta-hydroxylase domain containing 2	367					peptidyl-amino acid modification (GO:0018193)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)	p.P341P(1)		endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	16						TCTTTGCTCCGGGACGATGAG	0.597																																																	1	Substitution - coding silent(1)	large_intestine(1)						ENSG00000128203						97.0	101.0	100.0					22																	26839163		2203	4300	6503	ASPHD2	SO:0001819	synonymous_variant	0			-	HGNC	AK097157	CCDS13834.2	22q12.1	2006-02-02			ENSG00000128203	ENSG00000128203			30437	protein-coding gene	gene with protein product							Standard	NM_020437		Approved	FLJ39838	uc003acg.2	Q6ICH7	OTTHUMG00000150884	ENST00000215906.5:c.1101G>T	22.37:g.26839163G>T		Somatic	0	36	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	30	14.29	B2RCH3|Q7L0W3|Q9NSN3	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Asp_Arg_b-Hydrxlase	p.P367	ENST00000215906.5	37	c.1101	CCDS13834.2	22																																																																																			-	NULL		0.597	ASPHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASPHD2	protein_coding	OTTHUMT00000320422.1	G	NM_020437	-		26839163	+1	no_errors	ENST00000215906	ensembl	human	known	74_37	silent	SNP	0.006	T
GP1BA	2811	genome.wustl.edu	37	17	4837171	4837171	+	Silent	SNP	G	G	A			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr17:4837171G>A	ENST00000329125.5	+	2	1347	c.1272G>A	c.(1270-1272)ccG>ccA	p.P424P		NM_000173.5	NP_000164.5	P07359	GP1BA_HUMAN	glycoprotein Ib (platelet), alpha polypeptide	424	Pro/Thr-rich.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|fibrinolysis (GO:0042730)|platelet activation (GO:0030168)|regulation of blood coagulation (GO:0030193)|thrombin receptor signaling pathway (GO:0070493)	anchored component of external side of plasma membrane (GO:0031362)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	thrombin receptor activity (GO:0015057)	p.E412_P424delEPTSEPAPSPTTP(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(5)|stomach(1)|urinary_tract(1)	20						cgaccaccccggagcccacct	0.751																																																	1	Deletion - In frame(1)	stomach(1)						ENSG00000185245																																			GP1BA	SO:0001819	synonymous_variant	0			-	HGNC		CCDS54068.1	17p13.2	2014-09-17			ENSG00000185245	ENSG00000185245		"""CD molecules"""	4439	protein-coding gene	gene with protein product		606672		GP1B		3353370	Standard	NM_000173		Approved	CD42b	uc021tnz.1	P07359	OTTHUMG00000177946	ENST00000329125.5:c.1272G>A	17.37:g.4837171G>A		Somatic	0	40	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	24	16.13	E7ES66|Q14441|Q16469|Q8N1F3|Q8NG39|Q9HDC7|Q9UEK1|Q9UQS4	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.P424	ENST00000329125.5	37	c.1272	CCDS54068.1	17																																																																																			-	NULL		0.751	GP1BA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GP1BA	protein_coding	OTTHUMT00000439889.1	G		-		4837171	+1	no_errors	ENST00000329125	ensembl	human	known	74_37	silent	SNP	0.000	A
HNRNPM	4670	genome.wustl.edu	37	19	8553897	8553897	+	3'UTR	SNP	G	G	C			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr19:8553897G>C	ENST00000325495.4	+	0	2393				HNRNPM_ENST00000348943.3_3'UTR|HNRNPM_ENST00000602219.1_3'UTR	NM_005968.4	NP_005959.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M						alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|paraspeckles (GO:0042382)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|RNA binding (GO:0003723)			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						GGTTCCATTTGACTGTTTGCA	0.323																																																	0								ENSG00000099783																																			HNRNPM	SO:0001624	3_prime_UTR_variant	0			-	HGNC	L03532	CCDS12203.1, CCDS12204.1	19p13.2	2013-06-12		2008-04-18	ENSG00000099783	ENSG00000099783		"""RNA binding motif (RRM) containing"""	5046	protein-coding gene	gene with protein product	"""CEA receptor"""	160994		NAGR1, HNRPM		8441656, 7558047	Standard	NM_005968		Approved	HTGR1, HNRNPM4, HNRPM4, CEAR	uc010dwe.3	P52272	OTTHUMG00000182383	ENST00000325495.4:c.*159G>C	19.37:g.8553897G>C		Somatic	0	82	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	81	15.62	Q15584|Q8WZ44|Q96H56|Q9BWL9|Q9Y492	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000325495.4	37	NULL	CCDS12203.1	19																																																																																			-	-		0.323	HNRNPM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HNRNPM	protein_coding	OTTHUMT00000460894.1	G		-		8553897	+1	no_errors	ENST00000602219	ensembl	human	known	74_37	rna	SNP	1.000	C
FAM186B	84070	genome.wustl.edu	37	12	49993263	49993263	+	Silent	SNP	G	G	C			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr12:49993263G>C	ENST00000257894.2	-	4	2321	c.2160C>G	c.(2158-2160)ctC>ctG	p.L720L	FAM186B_ENST00000551047.1_Intron|FAM186B_ENST00000544141.1_Silent_p.L630L	NM_032130.2	NP_115506.1	Q8IYM0	F186B_HUMAN	family with sequence similarity 186, member B	720						protein complex (GO:0043234)				breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GGAGGCTCTGGAGGCGTCTAT	0.592																																																	0								ENSG00000135436						49.0	48.0	48.0					12																	49993263		2203	4300	6503	FAM186B	SO:0001819	synonymous_variant	0			-	HGNC	AL136748	CCDS8788.1	12q13.12	2008-09-17	2008-09-17	2008-09-17	ENSG00000135436	ENSG00000135436			25296	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 25"""	C12orf25		11230166	Standard	NM_032130		Approved	DKFZP434J0113	uc001ruo.3	Q8IYM0	OTTHUMG00000167427	ENST00000257894.2:c.2160C>G	12.37:g.49993263G>C		Somatic	0	53	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	42	12.50	B4DZ15|Q8TCP7|Q9H0L3	Silent	SNP	NA	NA	NA	NA	NA	NA	NULL	p.L720	ENST00000257894.2	37	c.2160	CCDS8788.1	12																																																																																			-	NULL		0.592	FAM186B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM186B	protein_coding	OTTHUMT00000394583.2	G	NM_032130	-		49993263	-1	no_errors	ENST00000257894	ensembl	human	known	74_37	silent	SNP	0.996	C
CCDC163P	126661	genome.wustl.edu	37	1	45962125	45962125	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr1:45962125G>T	ENST00000488405.2	-	4	676	c.433C>A	c.(433-435)Ccc>Acc	p.P145T	CCDC163P_ENST00000432082.1_Intron|CCDC163P_ENST00000502793.2_Intron|CCDC163P_ENST00000490551.3_Intron					coiled-coil domain containing 163, pseudogene											cervix(1)|endometrium(1)	2						TGAAGACAGGGGCAGGAGAGG	0.507																																																	0								ENSG00000236624																																			CCDC163P	SO:0001583	missense	0			-	HGNC	BC047421		1p34.1	2010-06-14	2009-12-17	2009-12-17	ENSG00000236624	ENSG00000236624			27003	pseudogene	pseudogene			"""chromosome 1 open reading frame 231"""	C1orf231		18672041	Standard	NR_033296		Approved	LOC126661	uc001cnw.3		OTTHUMG00000007741	ENST00000488405.2:c.433C>A	1.37:g.45962125G>T	ENSP00000432622:p.Pro145Thr	Somatic	0	27	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	10	28.57		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.P145T	ENST00000488405.2	37	c.433		1	.	.	.	.	.	.	.	.	.	.	G	16.01	3.000491	0.54147	.	.	ENSG00000236624	ENST00000488405	.	.	.	4.87	-2.82	0.05787	.	.	.	.	.	T	0.42381	0.1200	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.51387	-0.8712	5	0.87932	D	0	.	10.1463	0.42767	0.6665:0.0:0.3335:0.0	.	.	.	.	T	145	.	ENSP00000432622:P145T	P	-	1	0	CCDC163P	45734712	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.597000	0.05713	-0.392000	0.07751	0.637000	0.83480	CCC	-	NULL		0.507	CCDC163P-004	PUTATIVE	basic|appris_candidate_longest	protein_coding	CCDC163P	protein_coding	OTTHUMT00000090861.2	G	NM_001102601	-		45962125	-1	no_errors	ENST00000488405	ensembl	human	putative	74_37	missense	SNP	0.000	T
TM6SF2	53345	genome.wustl.edu	37	19	19384023	19384023	+	Start_Codon_SNP	SNP	A	A	G			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr19:19384023A>G	ENST00000389363.4	-	1	74	c.2T>C	c.(1-3)aTg>aCg	p.M1T	TM6SF2_ENST00000586107.1_5'UTR|AC138430.4_ENST00000586064.2_RNA	NM_001001524.2	NP_001001524.2	Q9BZW4	TM6S2_HUMAN	transmembrane 6 superfamily member 2	1						integral component of membrane (GO:0016021)				breast(2)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14			Epithelial(12;0.0151)			CGGGATGTCCATAGCGGCGGC	0.741																																																	0								ENSG00000213996						3.0	4.0	4.0					19																	19384023		1677	3670	5347	TM6SF2	SO:0001582	initiator_codon_variant	0			-	HGNC	AF255923	CCDS42528.1	19p13.3-p12	2008-02-05							11861	protein-coding gene	gene with protein product		606563				11124529	Standard	NM_001001524		Approved	Lpr4	uc002nmd.1	Q9BZW4		ENST00000389363.4:c.2T>C	19.37:g.19384023A>G	ENSP00000374014:p.Met1Thr	Somatic	0	11	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	11	38.89	Q0IJ64	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Transmembrane_6/97	p.M1T	ENST00000389363.4	37	c.2	CCDS42528.1	19	.	.	.	.	.	.	.	.	.	.	A	15.97	2.989955	0.54041	.	.	ENSG00000213996	ENST00000389363;ENST00000431465;ENST00000269990	T	0.23950	1.88	4.25	4.25	0.50352	.	.	.	.	.	T	0.43700	0.1259	.	.	.	0.80722	D	1	D	0.54601	0.967	P	0.60789	0.879	T	0.41395	-0.9511	8	0.72032	D	0.01	-21.7481	9.672	0.40017	1.0:0.0:0.0:0.0	.	1	Q9BZW4	TM6S2_HUMAN	T	1	ENSP00000374014:M1T	ENSP00000269990:M1T	M	-	2	0	TM6SF2	19245023	1.000000	0.71417	0.984000	0.44739	0.269000	0.26545	3.619000	0.54196	1.806000	0.52798	0.448000	0.29417	ATG	-	NULL		0.741	TM6SF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TM6SF2	protein_coding	OTTHUMT00000460122.2	A	NM_203510	-	Missense_Mutation	19384023	-1	no_errors	ENST00000389363	ensembl	human	known	74_37	missense	SNP	0.994	G
ABCC3	8714	genome.wustl.edu	37	17	48746756	48746756	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr17:48746756G>T	ENST00000285238.8	+	17	2188	c.2108G>T	c.(2107-2109)tGc>tTc	p.C703F		NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	703	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Doxorubicin(DB00997)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indomethacin(DB00328)|Lamivudine(DB00709)|Leucovorin(DB00650)|Methotrexate(DB00563)|Metyrapone(DB01011)|Nifedipine(DB01115)|Omeprazole(DB00338)|Phenobarbital(DB01174)|Probenecid(DB01032)|Rifampicin(DB01045)|Sulfinpyrazone(DB01138)|Verapamil(DB00661)|Vincristine(DB00541)	ATCCAGAACTGCACTCTTCAG	0.602																																																	0								ENSG00000108846						88.0	81.0	83.0					17																	48746756		2203	4300	6503	ABCC3	SO:0001583	missense	0			-	HGNC	Y17151	CCDS32681.1, CCDS45739.1	17q21	2012-03-14			ENSG00000108846	ENSG00000108846		"""ATP binding cassette transporters / subfamily C"""	54	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter 2"""	604323				8894702, 9827529	Standard	NM_003786		Approved	MRP3, cMOAT2, EST90757, MLP2, MOAT-D	uc002isl.3	O15438	OTTHUMG00000162245	ENST00000285238.8:c.2108G>T	17.37:g.48746756G>T	ENSP00000285238:p.Cys703Phe	Somatic	0	47	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	35	10.26	B2RPA9|D3DTX9|O60265|O60922|O75621|O95078|O95289|O95290|Q86X85|Q9UN52	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc	p.C703F	ENST00000285238.8	37	c.2108	CCDS32681.1	17	.	.	.	.	.	.	.	.	.	.	G	15.43	2.830950	0.50845	.	.	ENSG00000108846	ENST00000285238	D	0.93547	-3.24	4.36	2.2	0.27929	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.496508	0.20722	N	0.086893	D	0.87022	0.6074	N	0.01168	-0.975	0.42936	D	0.994331	D	0.53462	0.96	P	0.54965	0.765	D	0.90124	0.4201	10	0.72032	D	0.01	-12.7161	14.1917	0.65641	0.0:0.4161:0.5839:0.0	.	703	O15438	MRP3_HUMAN	F	703	ENSP00000285238:C703F	ENSP00000285238:C703F	C	+	2	0	ABCC3	46101755	1.000000	0.71417	0.989000	0.46669	0.735000	0.41995	4.328000	0.59253	1.184000	0.42957	0.313000	0.20887	TGC	-	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Multidrug-R_assoc		0.602	ABCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC3	protein_coding	OTTHUMT00000368083.2	G	NM_020038	-		48746756	+1	no_errors	ENST00000285238	ensembl	human	known	74_37	missense	SNP	1.000	T
NUP93	9688	genome.wustl.edu	37	16	56832428	56832428	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr16:56832428C>T	ENST00000308159.5	+	4	459	c.338C>T	c.(337-339)gCc>gTc	p.A113V	NUP93_ENST00000564887.1_5'UTR|NUP93_ENST00000542526.1_5'UTR|NUP93_ENST00000569595.1_3'UTR|NUP93_ENST00000569842.1_Missense_Mutation_p.A113V	NM_014669.4	NP_055484.3	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	113					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						CTGCTGTCTGCCATCGAAGAG	0.418																																					Colon(33;610 796 1305 1705 38917)												0								ENSG00000102900						74.0	75.0	75.0					16																	56832428		2198	4300	6498	NUP93	SO:0001583	missense	0			-	HGNC	D42085	CCDS10769.1, CCDS55996.1	16q13	2008-02-05			ENSG00000102900	ENSG00000102900			28958	protein-coding gene	gene with protein product		614351				9348540, 9531546	Standard	NM_014669		Approved	KIAA0095	uc002eka.3	Q8N1F7	OTTHUMG00000133278	ENST00000308159.5:c.338C>T	16.37:g.56832428C>T	ENSP00000310668:p.Ala113Val	Somatic	0	50	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	21	12.50	B3KPQ8|Q14705	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Nucleoporin_int_Nup93/Nic96	p.A113V	ENST00000308159.5	37	c.338	CCDS10769.1	16	.	.	.	.	.	.	.	.	.	.	C	11.53	1.666445	0.29604	.	.	ENSG00000102900	ENST00000308159	T	0.45668	0.89	5.94	5.94	0.96194	.	0.143064	0.64402	D	0.000005	T	0.25644	0.0624	N	0.04203	-0.255	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.09751	-1.0660	10	0.21014	T	0.42	-9.4552	20.0158	0.97477	0.0:1.0:0.0:0.0	.	113	Q8N1F7	NUP93_HUMAN	V	113	ENSP00000310668:A113V	ENSP00000310668:A113V	A	+	2	0	NUP93	55389929	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.540000	0.82074	2.825000	0.97269	0.644000	0.83932	GCC	-	NULL		0.418	NUP93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP93	protein_coding	OTTHUMT00000257058.4	C	NM_014669	-		56832428	+1	no_errors	ENST00000308159	ensembl	human	known	74_37	missense	SNP	1.000	T
IP6K3	117283	genome.wustl.edu	37	6	33703226	33703226	+	Missense_Mutation	SNP	C	C	T	rs141301327		TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr6:33703226C>T	ENST00000293756.4	-	2	354	c.28G>A	c.(28-30)Ggg>Agg	p.G10R	IP6K3_ENST00000451316.1_Missense_Mutation_p.G10R	NM_054111.4	NP_473452.2	Q96PC2	IP6K3_HUMAN	inositol hexakisphosphate kinase 3	10					inositol phosphate biosynthetic process (GO:0032958)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol metabolic process (GO:0046488)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol hexakisphosphate 6-kinase activity (GO:0000831)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			skin(1)	1						CTCATGTCCCCGGCGTCTGCG	0.612																																																	0								ENSG00000161896	C	ARG/GLY,ARG/GLY	1,4405	2.1+/-5.4	0,1,2202	52.0	39.0	44.0		28,28	2.2	0.0	6	dbSNP_134	44	0,8600		0,0,4300	no	missense,missense	IP6K3	NM_001142883.1,NM_054111.4	125,125	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	10/411,10/411	33703226	1,13005	2203	4300	6503	IP6K3	SO:0001583	missense	0			-	HGNC	AF393812	CCDS34435.1	6p21.31	2009-01-05	2009-01-05	2008-12-22	ENSG00000161896	ENSG00000161896			17269	protein-coding gene	gene with protein product		606993	"""inositol hexaphosphate kinase 3"""	IHPK3		11502751	Standard	NM_054111		Approved	INSP6K3	uc003ofb.2	Q96PC2	OTTHUMG00000014531	ENST00000293756.4:c.28G>A	6.37:g.33703226C>T	ENSP00000293756:p.Gly10Arg	Somatic	0	44	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	36	16	69.23	Q96MQ9	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_IPK	p.G10R	ENST00000293756.4	37	c.28	CCDS34435.1	6	.	.	.	.	.	.	.	.	.	.	C	17.40	3.381202	0.61845	2.27E-4	0.0	ENSG00000161896	ENST00000451316;ENST00000293756	T;T	0.18016	2.24;2.24	4.99	2.24	0.28232	.	0.758537	0.12042	N	0.504904	T	0.13243	0.0321	L	0.47716	1.5	0.23331	N	0.997892	D	0.89917	1.0	D	0.66979	0.948	T	0.16928	-1.0386	10	0.15499	T	0.54	-16.1663	9.4209	0.38550	0.0:0.7658:0.0:0.2342	.	10	Q96PC2	IP6K3_HUMAN	R	10	ENSP00000398861:G10R;ENSP00000293756:G10R	ENSP00000293756:G10R	G	-	1	0	IP6K3	33811204	0.000000	0.05858	0.003000	0.11579	0.013000	0.08279	-0.406000	0.07187	0.159000	0.19401	-0.339000	0.08088	GGG	-	NULL		0.612	IP6K3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IP6K3	protein_coding	OTTHUMT00000040203.1	C	NM_054111	rs141301327		33703226	-1	no_errors	ENST00000293756	ensembl	human	known	74_37	missense	SNP	0.440	T
UGT3A1	133688	genome.wustl.edu	37	5	35988629	35988629	+	Missense_Mutation	SNP	T	T	A			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr5:35988629T>A	ENST00000274278.3	-	2	476	c.119A>T	c.(118-120)gAc>gTc	p.D40V	UGT3A1_ENST00000333811.4_5'UTR|UGT3A1_ENST00000503189.1_Missense_Mutation_p.D40V|UGT3A1_ENST00000507113.1_Intron|UGT3A1_ENST00000513233.1_Intron	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	40						integral component of membrane (GO:0016021)|UDP-N-acetylglucosamine transferase complex (GO:0043541)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGACACCCGGTCCAACAGTAG	0.388																																																	0								ENSG00000145626						89.0	85.0	86.0					5																	35988629		2203	4300	6503	UGT3A1	SO:0001583	missense	0			-	HGNC		CCDS3913.1, CCDS54841.1	5p13.2	2014-05-20			ENSG00000145626	ENSG00000145626		"""UDP glucuronosyltransferases"""	26625	protein-coding gene	gene with protein product							Standard	NM_152404		Approved	FLJ34658	uc003jjv.2	Q6NUS8	OTTHUMG00000131107	ENST00000274278.3:c.119A>T	5.37:g.35988629T>A	ENSP00000274278:p.Asp40Val	Somatic	0	71	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	56	8.20	G5E961|Q8IYS9|Q8NAW4|Q96DM6	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.D40V	ENST00000274278.3	37	c.119	CCDS3913.1	5	.	.	.	.	.	.	.	.	.	.	T	12.78	2.041737	0.35989	.	.	ENSG00000145626	ENST00000274278;ENST00000503189	T;T	0.59772	0.24;0.24	3.2	3.2	0.36748	.	1.018420	0.07916	U	0.975057	T	0.59487	0.2197	L	0.48362	1.52	0.58432	D	0.999998	B;B	0.30114	0.269;0.157	B;B	0.40782	0.244;0.34	T	0.56559	-0.7959	10	0.66056	D	0.02	.	10.0815	0.42393	0.0:0.0:0.0:1.0	.	40;40	B7Z8Q8;Q6NUS8	.;UD3A1_HUMAN	V	40	ENSP00000274278:D40V;ENSP00000427079:D40V	ENSP00000274278:D40V	D	-	2	0	UGT3A1	36024386	0.024000	0.19004	0.007000	0.13788	0.311000	0.27955	1.912000	0.39946	1.396000	0.46663	0.374000	0.22700	GAC	-	pfam_UDP_glucos_trans		0.388	UGT3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT3A1	protein_coding	OTTHUMT00000253770.2	T	NM_152404	-		35988629	-1	no_errors	ENST00000274278	ensembl	human	known	74_37	missense	SNP	0.468	A
MYLIP	29116	genome.wustl.edu	37	6	16143949	16143949	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr6:16143949C>T	ENST00000356840.3	+	5	880	c.682C>T	c.(682-684)Cag>Tag	p.Q228*	MIR4639_ENST00000584938.1_RNA|MYLIP_ENST00000349606.4_Nonsense_Mutation_p.Q47*	NM_013262.3	NP_037394.2	Q8WY64	MYLIP_HUMAN	myosin regulatory light chain interacting protein	228	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cellular component movement (GO:0006928)|cholesterol homeostasis (GO:0042632)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|nervous system development (GO:0007399)|positive regulation of protein catabolic process (GO:0045732)|protein destabilization (GO:0031648)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of low-density lipoprotein particle receptor catabolic process (GO:0032803)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	cytoskeletal protein binding (GO:0008092)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.241)			TCCTGTGGTGCAGATGGCCAC	0.473																																																	0								ENSG00000007944						126.0	115.0	119.0					6																	16143949		2203	4300	6503	MYLIP	SO:0001587	stop_gained	0			-	HGNC	AF187016	CCDS4536.1	6p23-p22.3	2011-11-17			ENSG00000007944	ENSG00000007944			21155	protein-coding gene	gene with protein product	"""E3 ubiquitin ligase-inducible degrader of the low density lipoprotein receptor"""	610082				10593918, 11162443, 19688294	Standard	NM_013262		Approved	MIR, IDOL	uc003nbq.3	Q8WY64	OTTHUMG00000016405	ENST00000356840.3:c.682C>T	6.37:g.16143949C>T	ENSP00000349298:p.Gln228*	Somatic	0	28	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	39	9.30	Q5TIA4|Q9BU73|Q9NRL9|Q9UHE7	Nonsense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_FERM_N,pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,pfscan_Znf_RING,prints_Band_41_fam,prints_Ez/rad/moesin_like	p.Q228*	ENST00000356840.3	37	c.682	CCDS4536.1	6	.	.	.	.	.	.	.	.	.	.	C	41	8.700340	0.98920	.	.	ENSG00000007944	ENST00000356840;ENST00000349606	.	.	.	5.46	4.58	0.56647	.	0.049350	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.1664	0.81759	0.0:0.8663:0.1337:0.0	.	.	.	.	X	228;47	.	ENSP00000008686:Q47X	Q	+	1	0	MYLIP	16251928	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.470000	0.80973	1.267000	0.44247	-0.282000	0.10007	CAG	-	pfscan_FERM_domain		0.473	MYLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYLIP	protein_coding	OTTHUMT00000043864.1	C	NM_013262	-		16143949	+1	no_errors	ENST00000356840	ensembl	human	known	74_37	nonsense	SNP	1.000	T
SLC38A5	92745	genome.wustl.edu	37	X	48317042	48317044	+	3'UTR	DEL	CCT	CCT	-	rs371877468		TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	CCT	CCT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chrX:48317042_48317044delCCT	ENST00000376876.3	-	0	2537_2539				SLC38A5_ENST00000480105.1_5'Flank|SLC38A5_ENST00000376875.1_3'UTR|SLC38A5_ENST00000317669.5_3'UTR			Q8WUX1	S38A5_HUMAN	solute carrier family 38, member 5						amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)			breast(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	19						CAGGACCTGGcctcctcctcctc	0.581														2117	0.560795	0.4743	0.4568	3775	,	,		5339	0.4613		0.2922	False		,,,				2504	0.4233																0								ENSG00000017483																																			SLC38A5	SO:0001624	3_prime_UTR_variant	0				HGNC	AF276889	CCDS14293.1	Xp11.23	2013-05-22			ENSG00000017483	ENSG00000017483		"""Solute carriers"""	18070	protein-coding gene	gene with protein product		300649				11243884	Standard	NM_033518		Approved	SN2, JM24	uc010nid.3	Q8WUX1	OTTHUMG00000024117	ENST00000376876.3:c.*277AGG>-	X.37:g.48317051_48317053delCCT		Somatic	0	10	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	10	23.08	B3KT20|B5MDE6|B7WPJ9|Q6PIW9|Q8WYU2|Q96PQ4	RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000376876.3	37	NULL	CCDS14293.1	X																																																																																			-	-		0.581	SLC38A5-011	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC38A5	protein_coding	OTTHUMT00000060724.1	CCT	NM_033518			48317044	-1	no_errors	ENST00000497336	ensembl	human	known	74_37	rna	DEL	0.017:0.023:0.025	-
AL354984.1	0	genome.wustl.edu	37	20	56493946	56493946	+	RNA	SNP	G	G	T			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr20:56493946G>T	ENST00000408080.1	+	0	7																											gtataatacagtattctcagt	0.308																																																	0								ENSG00000221007																																			AL354984.1			0			-	Clone_based_ensembl_gene																													20.37:g.56493946G>T		Somatic	0	49	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	25	10.71		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000408080.1	37	NULL		20																																																																																			-	-		0.308	AL354984.1-201	NOVEL	basic	miRNA	ENSG00000221007	miRNA		G		-		56493946	+1	no_errors	ENST00000408080	ensembl	human	novel	74_37	rna	SNP	0.002	T
MYRIP	25924	genome.wustl.edu	37	3	40085724	40085724	+	Silent	SNP	C	C	T			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr3:40085724C>T	ENST00000302541.6	+	3	636	c.294C>T	c.(292-294)caC>caT	p.H98H	MYRIP_ENST00000396217.3_Missense_Mutation_p.T55M|MYRIP_ENST00000444716.1_Silent_p.H98H|MYRIP_ENST00000425621.1_Silent_p.H98H	NM_001284423.1|NM_001284426.1|NM_015460.2	NP_001271352.1|NP_001271355.1|NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	98	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				intracellular protein transport (GO:0006886)|positive regulation of insulin secretion (GO:0032024)	actin cytoskeleton (GO:0015629)|dense core granule (GO:0031045)|exocyst (GO:0000145)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|synapse (GO:0045202)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		ACCAGAAGCACGAAAAGGCCT	0.552																																																	0								ENSG00000170011						79.0	71.0	73.0					3																	40085724		2203	4300	6503	MYRIP	SO:0001819	synonymous_variant	0			-	HGNC	AF396687	CCDS2689.1, CCDS68390.1, CCDS68391.1, CCDS68392.1	3p21.33	2010-08-20			ENSG00000170011	ENSG00000170011		"""A-kinase anchor proteins"""	19156	protein-coding gene	gene with protein product	"""synaptotagmin-like protein homologue lacking C2 domains-c"", ""rab effector MYRIP"", ""Slp homologue lacking C2 domains"""	611790				11964381, 12221080	Standard	NM_001284425		Approved	DKFZp586F1018, exophilin-8, MyRIP, SLAC2-C, SLAC2C	uc003cka.3	Q8NFW9	OTTHUMG00000131392	ENST00000302541.6:c.294C>T	3.37:g.40085724C>T		Somatic	0	39	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	17	15.00	B3KWM3|B3KWW4|B7Z2H1|B7Z9V3|G3XAI8|Q32M41|Q32M42|Q569F7|Q8IUF5|Q9Y3V4	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Myrip/Melanophilin	p.T55M	ENST00000302541.6	37	c.164	CCDS2689.1	3	.	.	.	.	.	.	.	.	.	.	C	13.21	2.169616	0.38315	.	.	ENSG00000170011	ENST00000396217	T	0.23348	1.91	5.51	-11.0	0.00169	.	.	.	.	.	T	0.09686	0.0238	.	.	.	0.80722	D	1	B	0.12013	0.005	B	0.06405	0.002	T	0.23297	-1.0192	7	.	.	.	.	3.3998	0.07319	0.1522:0.0993:0.3132:0.4352	.	55	Q32M42	.	M	55	ENSP00000379519:T55M	.	T	+	2	0	MYRIP	40060728	0.000000	0.05858	0.002000	0.10522	0.844000	0.47949	-0.460000	0.06720	-3.228000	0.00210	-0.251000	0.11542	ACG	-	NULL		0.552	MYRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYRIP	protein_coding	OTTHUMT00000254181.2	C	NM_015460	-		40085724	+1	no_errors	ENST00000396217	ensembl	human	known	74_37	missense	SNP	0.013	T
ATRX	546	genome.wustl.edu	37	X	76909587	76909587	+	Splice_Site	SNP	C	C	T			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chrX:76909587C>T	ENST00000373344.5	-	14	4532		c.e14+1		ATRX_ENST00000395603.3_Splice_Site|ATRX_ENST00000480283.1_Splice_Site	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked						ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						GTCATTATTACCTTGTTTTCA	0.353			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																																	Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	1	Unknown(1)	bone(1)						ENSG00000085224						236.0	200.0	212.0					X																	76909587		2203	4295	6498	ATRX	SO:0001630	splice_region_variant	0			-	HGNC	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.4317+1G>A	X.37:g.76909587C>T		Somatic	0	33	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	10	61.54	D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Splice_Site	SNP	NA	NA	NA	NA	NA	NA	-	e14+1	ENST00000373344.5	37	c.4317+1	CCDS14434.1	X	.	.	.	.	.	.	.	.	.	.	c	19.63	3.863089	0.71949	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	.	.	.	5.27	5.27	0.74061	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.5589	0.56269	0.0:0.9151:0.0:0.0849	.	.	.	.	.	-1	.	.	.	-	.	.	ATRX	76796243	1.000000	0.71417	0.991000	0.47740	0.960000	0.62799	4.803000	0.62546	2.332000	0.79248	0.502000	0.49764	.	-	-		0.353	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATRX	protein_coding	OTTHUMT00000058860.2	C	NM_000489	-	Intron	76909587	-1	no_errors	ENST00000373344	ensembl	human	known	74_37	splice_site	SNP	1.000	T
TENM4	26011	genome.wustl.edu	37	11	78497988	78497988	+	Nonsense_Mutation	SNP	T	T	A			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr11:78497988T>A	ENST00000278550.7	-	16	2782	c.2320A>T	c.(2320-2322)Aag>Tag	p.K774*		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	774	EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										CACTCGCACTTGCCGTCGCGG	0.687																																																	0								ENSG00000149256						13.0	16.0	15.0					11																	78497988		2050	4166	6216	TENM4	SO:0001587	stop_gained	0			-	HGNC	AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"""odz, odd Oz/ten-m homolog 4 (Drosophila)"""	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.2320A>T	11.37:g.78497988T>A	ENSP00000278550:p.Lys774*	Somatic	0	78	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	51	23.88	A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Nonsense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.K774*	ENST00000278550.7	37	c.2320	CCDS44688.1	11	.	.	.	.	.	.	.	.	.	.	T	46	12.435856	0.99667	.	.	ENSG00000149256	ENST00000278550	.	.	.	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2402	0.73465	0.0:0.0:0.0:1.0	.	.	.	.	X	774	.	.	K	-	1	0	ODZ4	78175636	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.820000	0.86633	2.198000	0.70561	0.533000	0.62120	AAG	-	pfam_EGF_extracell,smart_EG-like_dom,pfscan_EG-like_dom		0.687	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM4	protein_coding	OTTHUMT00000391406.2	T		-		78497988	-1	no_errors	ENST00000278550	ensembl	human	known	74_37	nonsense	SNP	1.000	A
PTGES	9536	genome.wustl.edu	37	9	132501706	132501707	+	3'UTR	INS	-	-	ACACAT	rs1134680|rs137962222|rs35042232|rs3884098|rs367837009		TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr9:132501706_132501707insACACAT	ENST00000340607.4	-	0	676_677				PTGES_ENST00000481476.1_De_novo_Start_OutOfFrame	NM_004878.4	NP_004869.1	O14684	PTGES_HUMAN	prostaglandin E synthase						acute inflammatory response (GO:0002526)|arachidonic acid metabolic process (GO:0019369)|chronic inflammatory response (GO:0002544)|cyclooxygenase pathway (GO:0019371)|negative regulation of cell proliferation (GO:0008285)|prostaglandin biosynthetic process (GO:0001516)|prostaglandin metabolic process (GO:0006693)|response to calcium ion (GO:0051592)|response to cytokine (GO:0034097)|response to lipopolysaccharide (GO:0032496)|response to organic cyclic compound (GO:0014070)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)	glutathione binding (GO:0043295)|prostaglandin-E synthase activity (GO:0050220)			lung(1)|skin(1)	2		Ovarian(14;0.00556)				Aacatacacacacacatacaca	0.525																																																	0								ENSG00000148344																																			PTGES	SO:0001624	3_prime_UTR_variant	0				HGNC	AF010316	CCDS6927.1	9q34.3	2008-07-21			ENSG00000148344	ENSG00000148344			9599	protein-coding gene	gene with protein product	"""microsomal glutathione S-transferase 1-like 1"", ""tumor protein p53 inducible protein 12"", ""p53-induced gene 12"", ""microsomal prostaglandin E synthase-1"", ""glutathione S-transferase 1-like 1"", ""MGST1-like 1"""	605172		MGST1L1		9305847, 10091672	Standard	NM_004878		Approved	MGST-IV, PIG12, MGST1-L1, TP53I12	uc004byi.3	O14684	OTTHUMG00000020791	ENST00000340607.4:c.*184->ATGTGT	9.37:g.132501707_132501712dupACACAT		Somatic	NA	NA	NA		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	O14900|Q5SZC0	RNA	INS	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000340607.4	37	NULL	CCDS6927.1	9																																																																																			-	-		0.525	PTGES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGES	protein_coding	OTTHUMT00000054599.2	-	NM_004878			132501707	-1	no_errors	ENST00000481476	ensembl	human	known	74_37	rna	INS	0.000:0.000	ACACAT
Unknown	0	genome.wustl.edu	37	16	33490022	33490022	+	IGR	SNP	G	G	T			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr16:33490022G>T								RP11-23E10.4 (123209 upstream) : BMS1P8 (7140 downstream)																							GCAGTGTGAGGATCTGACAAG	0.507																																																	0								ENSG00000260518																																			BMS1P8	SO:0001628	intergenic_variant	0			-	HGNC																													16.37:g.33490022G>T		Somatic	0	17	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	14	26.32		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL		37	NULL		16																																																																																			-	-	0	0.507					BMS1P8			G		-		33490022	-1	no_errors	ENST00000567036	ensembl	human	known	74_37	rna	SNP	0.990	T
LTK	4058	genome.wustl.edu	37	15	41800415	41800415	+	Silent	SNP	G	G	T	rs377698700		TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr15:41800415G>T	ENST00000263800.6	-	9	1197	c.1101C>A	c.(1099-1101)acC>acA	p.T367T	LTK_ENST00000561619.1_Silent_p.T49T|LTK_ENST00000453182.2_Silent_p.T306T|LTK_ENST00000355166.5_Silent_p.T306T	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase	367					cell proliferation (GO:0008283)|cellular response to retinoic acid (GO:0071300)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of neuron projection development (GO:0010976)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		CGTGGTTCTCGGTGACTGTGA	0.512										TSP Lung(18;0.14)																																							0								ENSG00000062524						145.0	129.0	134.0					15																	41800415		2203	4300	6503	LTK	SO:0001819	synonymous_variant	0			-	HGNC	D16105	CCDS10077.1, CCDS10078.1, CCDS45237.1	15q15.1-q21.1	2009-07-10	2008-01-23		ENSG00000062524	ENSG00000062524	2.7.10.1		6721	protein-coding gene	gene with protein product		151520	"""leukocyte tyrosine kinase"""			2320375	Standard	NM_206961		Approved	TYK1	uc001zoa.3	P29376	OTTHUMG00000130339	ENST00000263800.6:c.1101C>A	15.37:g.41800415G>T		Somatic	0	27	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	18	14.29	A6NNJ8|B4DL89|E9PFX4	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.T367	ENST00000263800.6	37	c.1101	CCDS10077.1	15																																																																																			-	NULL		0.512	LTK-001	KNOWN	basic|CCDS	protein_coding	LTK	protein_coding	OTTHUMT00000252690.2	G		-		41800415	-1	no_errors	ENST00000263800	ensembl	human	known	74_37	silent	SNP	0.026	T
ZNF85	7639	genome.wustl.edu	37	19	21131580	21131580	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr19:21131580G>T	ENST00000328178.8	+	4	373	c.260G>T	c.(259-261)tGg>tTg	p.W87L	ZNF85_ENST00000601023.1_Missense_Mutation_p.W28L|ZNF85_ENST00000597314.1_3'UTR|ZNF85_ENST00000345030.6_Missense_Mutation_p.W54L	NM_001256173.1|NM_003429.4	NP_001243102.1|NP_003420.2	Q03923	ZNF85_HUMAN	zinc finger protein 85	87					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)|transcription corepressor activity (GO:0003714)	p.W87S(1)		breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						CAAGACCTTTGGCCGGAGCAG	0.323																																																	1	Substitution - Missense(1)	lung(1)						ENSG00000105750						58.0	58.0	58.0					19																	21131580		2203	4299	6502	ZNF85	SO:0001583	missense	0			-	HGNC	U35376	CCDS32977.1, CCDS58657.1	19p12	2013-01-08	2006-05-12			ENSG00000105750		"""Zinc fingers, C2H2-type"", ""-"""	13160	protein-coding gene	gene with protein product		603899	"""zinc finger protein 85 (HPF4, HTF1)"""			2505992	Standard	NM_003429		Approved	HPF4, HTF1	uc031rjx.1	Q03923		ENST00000328178.8:c.260G>T	19.37:g.21131580G>T	ENSP00000329793:p.Trp87Leu	Somatic	0	50	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	75	9.64	B9ZVP4|Q6NVI0	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	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.W87L	ENST00000328178.8	37	c.260	CCDS32977.1	19	.	.	.	.	.	.	.	.	.	.	.	3.436	-0.115088	0.06881	.	.	ENSG00000105750	ENST00000328178;ENST00000345030	T;T	0.05139	3.62;3.49	1.04	-2.09	0.07232	.	.	.	.	.	T	0.04497	0.0123	L	0.46670	1.46	0.09310	N	1	P;P;P	0.44521	0.837;0.675;0.788	B;B;B	0.42030	0.373;0.122;0.244	T	0.27365	-1.0076	9	0.07325	T	0.83	.	2.2232	0.03978	0.2323:0.0:0.2604:0.5072	.	54;28;87	Q03923-2;Q49A12;Q03923	.;.;ZNF85_HUMAN	L	87;54	ENSP00000329793:W87L;ENSP00000342340:W54L	ENSP00000329793:W87L	W	+	2	0	ZNF85	20923420	0.000000	0.05858	0.036000	0.18154	0.035000	0.12851	-2.184000	0.01254	-0.530000	0.06349	-0.538000	0.04264	TGG	-	NULL		0.323	ZNF85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF85	protein_coding	OTTHUMT00000463430.1	G	NM_003429	-		21131580	+1	no_errors	ENST00000328178	ensembl	human	known	74_37	missense	SNP	0.001	T
MUC17	140453	genome.wustl.edu	37	7	100679631	100679631	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr7:100679631G>T	ENST00000306151.4	+	3	4998	c.4934G>T	c.(4933-4935)aGt>aTt	p.S1645I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1645	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCGGTGGCCAGTCCTGAGGCT	0.493																																																	0								ENSG00000169876						236.0	246.0	243.0					7																	100679631		2203	4300	6503	MUC17	SO:0001583	missense	0			-	HGNC	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.4934G>T	7.37:g.100679631G>T	ENSP00000302716:p.Ser1645Ile	Somatic	0	81	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	82	20.39	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom	p.S1645I	ENST00000306151.4	37	c.4934	CCDS34711.1	7	.	.	.	.	.	.	.	.	.	.	G	0.583	-0.836417	0.02692	.	.	ENSG00000169876	ENST00000306151	T	0.02369	4.32	0.932	-1.86	0.07760	.	.	.	.	.	T	0.01320	0.0043	N	0.08118	0	0.09310	N	1	P	0.42993	0.797	B	0.34180	0.177	T	0.49399	-0.8944	9	0.32370	T	0.25	.	6.4998	0.22162	0.0:0.4172:0.5828:0.0	.	1645	Q685J3	MUC17_HUMAN	I	1645	ENSP00000302716:S1645I	ENSP00000302716:S1645I	S	+	2	0	MUC17	100466351	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-1.769000	0.01792	-0.958000	0.03622	0.134000	0.15878	AGT	-	NULL		0.493	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC17	protein_coding	OTTHUMT00000347161.1	G	NM_001040105	-		100679631	+1	no_errors	ENST00000306151	ensembl	human	known	74_37	missense	SNP	0.000	T
RGN	9104	genome.wustl.edu	37	X	46952420	46952420	+	3'UTR	SNP	G	G	T			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chrX:46952420G>T	ENST00000352078.4	+	0	1319				RGN_ENST00000336169.3_3'UTR|RGN_ENST00000457380.1_3'UTR|RGN_ENST00000397180.1_3'UTR	NM_004683.4	NP_004674.1	Q15493	RGN_HUMAN	regucalcin						cellular calcium ion homeostasis (GO:0006874)|L-ascorbic acid biosynthetic process (GO:0019853)|positive regulation of ATPase activity (GO:0032781)|regulation of calcium-mediated signaling (GO:0050848)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|enzyme regulator activity (GO:0030234)|gluconolactonase activity (GO:0004341)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	9						TTTCAATCTAGTTAGAAAGAA	0.398																																																	0								ENSG00000130988						32.0	27.0	28.0					X																	46952420		692	1591	2283	RGN	SO:0001624	3_prime_UTR_variant	0			-	HGNC	D31815	CCDS14272.1, CCDS75968.1	Xp11.3	2014-03-14	2013-04-26		ENSG00000130988	ENSG00000130988	3.1.1.17		9989	protein-coding gene	gene with protein product	"""senescence marker protein-30"", ""gluconolactonase"""	300212	"""regucalcin (senescence marker protein-30)"""			7548213	Standard	NM_152869		Approved	SMP30, RC	uc004dha.1	Q15493	OTTHUMG00000021435	ENST00000352078.4:c.*74G>T	X.37:g.46952420G>T		Somatic	0	76	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	74	15.91	A4FTW1|A8K271|Q53FC9|Q5JRR5	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000352078.4	37	NULL	CCDS14272.1	X																																																																																			-	-		0.398	RGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGN	protein_coding	OTTHUMT00000056385.1	G	NM_004683	-		46952420	+1	no_errors	ENST00000475448	ensembl	human	known	74_37	rna	SNP	0.019	T
MFI2	4241	genome.wustl.edu	37	3	196733535	196733536	+	Frame_Shift_Ins	INS	-	-	G			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr3:196733535_196733536insG	ENST00000296350.5	-	14	1935_1936	c.1822_1823insC	c.(1822-1824)cgafs	p.R608fs	MFI2-AS1_ENST00000437064.1_RNA|MFI2-AS1_ENST00000415244.1_RNA|MFI2-AS1_ENST00000446695.1_RNA|MFI2-AS1_ENST00000424769.1_RNA|MFI2-AS1_ENST00000414354.1_RNA	NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5	608	Transferrin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00741}.				cellular iron ion homeostasis (GO:0006879)|iron ion import (GO:0097286)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of plasminogen activation (GO:0010756)	anchored component of plasma membrane (GO:0046658)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ferric iron binding (GO:0008199)|iron ion binding (GO:0005506)	p.R608*(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		CACCTCGGCTCGGGCCCCGTTG	0.624																																																	1	Substitution - Nonsense(1)	lung(1)						ENSG00000163975																																			MFI2	SO:0001589	frameshift_variant	0				HGNC		CCDS3325.1, CCDS3326.1	3q28-q29	2012-10-02			ENSG00000163975	ENSG00000163975		"""CD molecules"""	7037	protein-coding gene	gene with protein product	"""melanotransferrin"", ""membrane-bound transferrin-like protein"""	155750					Standard	NM_033316		Approved	CD228, FLJ38863, MAP97, MGC4856, MTF1	uc003fxk.4	P08582	OTTHUMG00000155518	ENST00000296350.5:c.1823dupC	3.37:g.196733538_196733538dupG	ENSP00000296350:p.Arg608fs	Somatic	0	40	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	39	11.36	Q9BQE2	Frame_Shift_Ins	INS	NA	NA	NA	NA	NA	NA	pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin,prints_Transferrin_fam	p.R608fs	ENST00000296350.5	37	c.1823_1822	CCDS3325.1	3																																																																																			-	pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin		0.624	MFI2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MFI2	protein_coding	OTTHUMT00000340458.1	-				196733536	-1	no_errors	ENST00000296350	ensembl	human	known	74_37	frame_shift_ins	INS	0.994:0.955	G
TNFRSF1B	7133	genome.wustl.edu	37	1	12251943	12251943	+	Silent	SNP	G	G	T			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr1:12251943G>T	ENST00000376259.3	+	4	509	c.420G>T	c.(418-420)ctG>ctT	p.L140L	TNFRSF1B_ENST00000492361.1_3'UTR|TNFRSF1B_ENST00000536782.1_Silent_p.L140L|MIR4632_ENST00000584158.1_RNA	NM_001066.2	NP_001057.1	P20333	TNR1B_HUMAN	tumor necrosis factor receptor superfamily, member 1B	140					aging (GO:0007568)|cellular response to growth factor stimulus (GO:0071363)|cellular response to lipopolysaccharide (GO:0071222)|extrinsic apoptotic signaling pathway (GO:0097191)|immune response (GO:0006955)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of inflammatory response (GO:0050728)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|RNA destabilization (GO:0050779)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|varicosity (GO:0043196)	tumor necrosis factor-activated receptor activity (GO:0005031)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|liver(1)|lung(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Ovarian(185;0.249)	Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284)	Etanercept(DB00005)	GCGCGCCGCTGCGCAAGTGCC	0.687																																																	0								ENSG00000028137						20.0	22.0	21.0					1																	12251943		2200	4298	6498	TNFRSF1B	SO:0001819	synonymous_variant	0			-	HGNC	M32315	CCDS145.1	1p36.22	2008-02-05			ENSG00000028137	ENSG00000028137		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11917	protein-coding gene	gene with protein product		191191		TNFR2		2158863, 8702885	Standard	NM_001066		Approved	TNFBR, TNFR80, TNF-R75, TNF-R-II, p75, CD120b	uc001att.3	P20333	OTTHUMG00000001829	ENST00000376259.3:c.420G>T	1.37:g.12251943G>T		Somatic	0	29	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	32	11.11	B1AJZ3|Q16042|Q6YI29|Q9UIH1	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_1B	p.L140	ENST00000376259.3	37	c.420	CCDS145.1	1																																																																																			-	smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg		0.687	TNFRSF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFRSF1B	protein_coding	OTTHUMT00000005133.1	G	NM_001066	-		12251943	+1	no_errors	ENST00000376259	ensembl	human	known	74_37	silent	SNP	0.008	T
LPAR3	23566	genome.wustl.edu	37	1	85331339	85331339	+	Silent	SNP	G	G	A	rs565409119		TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr1:85331339G>A	ENST00000440886.1	-	1	503	c.465C>T	c.(463-465)atC>atT	p.I155I	LPAR3_ENST00000370611.3_Silent_p.I155I|LPAR3_ENST00000491034.1_Intron			Q9UBY5	LPAR3_HUMAN	lysophosphatidic acid receptor 3	155					activation of MAPK activity (GO:0000187)|bleb assembly (GO:0032060)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|synaptic transmission (GO:0007268)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)|lysophosphatidic acid receptor activity (GO:0070915)|phospholipid binding (GO:0005543)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						TAAAAATGGCGATGGCCCAGA	0.542																																																	0								ENSG00000171517						145.0	151.0	149.0					1																	85331339		2203	4300	6503	LPAR3	SO:0001819	synonymous_variant	0			-	HGNC	AF127138	CCDS700.1	1p22.3	2012-08-08	2008-04-11	2008-04-11	ENSG00000171517	ENSG00000171517		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	14298	protein-coding gene	gene with protein product		605106	"""endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 7"""	EDG7		10488122	Standard	NM_012152		Approved	LP-A3, Edg-7, RP4-678I3, HOFNH30, LPA3	uc009wcj.1	Q9UBY5	OTTHUMG00000009925	ENST00000440886.1:c.465C>T	1.37:g.85331339G>A		Somatic	0	35	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	33	23.26	A0AVA3	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_LPA_rcpt_EDG7,prints_GPCR_Rhodpsn,prints_LPA_rcpt,prints_LPA_rcpt_EDG2,prints_Melcrt_ACTH_rcpt	p.I155	ENST00000440886.1	37	c.465	CCDS700.1	1																																																																																			-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.542	LPAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPAR3	protein_coding	OTTHUMT00000027467.1	G	NM_012152	-		85331339	-1	no_errors	ENST00000370611	ensembl	human	known	74_37	silent	SNP	0.583	A
KIAA1468	57614	genome.wustl.edu	37	18	59947878	59947878	+	Splice_Site	SNP	G	G	T			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr18:59947878G>T	ENST00000398130.2	+	24	3282		c.e24-1		KIAA1468_ENST00000256858.6_Splice_Site	NM_020854.3	NP_065905.2	Q9P260	K1468_HUMAN	KIAA1468											autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				AATTCTAACAGCTCTGTCAGG	0.299																																																	0								ENSG00000134444						53.0	54.0	54.0					18																	59947878		2203	4300	6503	KIAA1468	SO:0001630	splice_region_variant	0			-	HGNC	BC011992	CCDS11979.2	18q21.33	2005-11-03			ENSG00000134444	ENSG00000134444			29289	protein-coding gene	gene with protein product						11973628	Standard	NM_020854		Approved	HsT885, HsT3308, FLJ33841	uc002lil.3	Q9P260	OTTHUMG00000132780	ENST00000398130.2:c.3051-1G>T	18.37:g.59947878G>T		Somatic	0	46	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	28	9.68		Splice_Site	SNP	NA	NA	NA	NA	NA	NA	-	e25-1	ENST00000398130.2	37	c.3153-1	CCDS11979.2	18	.	.	.	.	.	.	.	.	.	.	G	17.78	3.474148	0.63737	.	.	ENSG00000134444	ENST00000398130;ENST00000256858	.	.	.	5.58	4.7	0.59300	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8486	0.85987	0.0:0.1286:0.8714:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KIAA1468	58098858	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.076000	0.94009	1.480000	0.48289	0.591000	0.81541	.	-	-		0.299	KIAA1468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1468	protein_coding	OTTHUMT00000256187.1	G	NM_020854	-	Intron	59947878	+1	no_errors	ENST00000256858	ensembl	human	known	74_37	splice_site	SNP	1.000	T
CCDC144CP	348254	genome.wustl.edu	37	17	20239613	20239613	+	RNA	SNP	G	G	T			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr17:20239613G>T	ENST00000340196.4	+	0	1037							Q8IYA2	C144C_HUMAN	coiled-coil domain containing 144C, pseudogene																		ATTTTCTTTAGGAAGTAGGAT	0.343																																																	0								ENSG00000154898																																			CCDC144CP			0			-	HGNC			17p11.2	2013-03-14	2013-03-14	2013-03-14	ENSG00000154898	ENSG00000154898			29073	pseudogene	pseudogene			"""coiled-coil domain containing 144C"""	CCDC144C		11997339	Standard	NR_023380		Approved		uc010cqy.1	Q8IYA2	OTTHUMG00000059513		17.37:g.20239613G>T		Somatic	0	13	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	7	36.36	B7WNP5	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000340196.4	37	NULL		17																																																																																			-	-		0.343	CCDC144CP-001	KNOWN	basic	processed_transcript	CCDC144CP	pseudogene	OTTHUMT00000132378.2	G	NR_023380	-		20239613	+1	no_errors	ENST00000340196	ensembl	human	known	74_37	rna	SNP	0.002	T
LPAR5	57121	genome.wustl.edu	37	12	6729390	6729390	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr12:6729390G>T	ENST00000329858.4	-	2	1781	c.1025C>A	c.(1024-1026)aCc>aAc	p.T342N	LPAR5_ENST00000540335.1_5'Flank|LPAR5_ENST00000431922.1_Missense_Mutation_p.T342N	NM_020400.5	NP_065133.1	Q9H1C0	LPAR5_HUMAN	lysophosphatidic acid receptor 5	342						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|skin(2)	7						ATCCGGCCTGGTGGCGTCGGT	0.701																																					NSCLC(74;891 2312 37538)												0								ENSG00000184574						47.0	34.0	38.0					12																	6729390		2201	4299	6500	LPAR5	SO:0001583	missense	0			-	HGNC	AJ272207	CCDS8553.1	12p13.31	2012-08-08	2008-04-11	2008-04-11		ENSG00000184574		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	13307	protein-coding gene	gene with protein product		606926	"""G protein-coupled receptor 92"""	GPR93, GPR92		11062477, 11574155, 16774927, 16651401	Standard	NM_020400		Approved	KPG_010, LPA5	uc009zer.2	Q9H1C0		ENST00000329858.4:c.1025C>A	12.37:g.6729390G>T	ENSP00000327875:p.Thr342Asn	Somatic	0	64	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.T342N	ENST00000329858.4	37	c.1025	CCDS8553.1	12	.	.	.	.	.	.	.	.	.	.	G	13.66	2.304561	0.40795	.	.	ENSG00000184574	ENST00000329858;ENST00000431922;ENST00000435659	T;T	0.69926	-0.44;-0.44	4.56	0.385	0.16249	.	0.473115	0.17046	N	0.189103	T	0.43255	0.1239	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.24083	-1.0170	10	0.49607	T	0.09	.	2.6869	0.05110	0.1727:0.1438:0.5358:0.1478	.	342	Q9H1C0	LPAR5_HUMAN	N	342	ENSP00000327875:T342N;ENSP00000393098:T342N	ENSP00000327875:T342N	T	-	2	0	LPAR5	6599651	0.000000	0.05858	0.000000	0.03702	0.126000	0.20510	-1.707000	0.01893	0.172000	0.19760	0.491000	0.48974	ACC	-	NULL		0.701	LPAR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPAR5	protein_coding	OTTHUMT00000400699.1	G	NM_020400	-		6729390	-1	no_errors	ENST00000329858	ensembl	human	known	74_37	missense	SNP	0.000	T
SPEF2	79925	genome.wustl.edu	37	5	35700617	35700617	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr5:35700617G>A	ENST00000356031.3	+	16	2315	c.2161G>A	c.(2161-2163)Gac>Aac	p.D721N	CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000440995.2_Missense_Mutation_p.D716N|SPEF2_ENST00000509059.1_Missense_Mutation_p.D716N	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	721					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGTGAATCAAGACTGTATCCT	0.363																																																	0								ENSG00000152582						79.0	72.0	74.0					5																	35700617		1824	4089	5913	SPEF2	SO:0001583	missense	0			-	HGNC	AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"""cancer/testis antigen 122"""	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.2161G>A	5.37:g.35700617G>A	ENSP00000348314:p.Asp721Asn	Somatic	0	25	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	26	29.73	Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_DUF1042,pfam_Adenylate_kin,pfam_HATC_dom_C,superfamily_P-loop_NTPase,superfamily_CH-domain,pfscan_CH-domain	p.D721N	ENST00000356031.3	37	c.2161	CCDS43309.1	5	.	.	.	.	.	.	.	.	.	.	G	7.223	0.597830	0.13875	.	.	ENSG00000152582	ENST00000356031;ENST00000509059;ENST00000440995;ENST00000504054	T;T;T;T	0.75938	-0.98;-0.98;-0.98;-0.98	5.99	0.607	0.17564	.	0.538685	0.18461	N	0.140539	T	0.54647	0.1871	N	0.16066	0.365	0.47621	D	0.999471	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.04013	0.001;0.001;0.001	T	0.28170	-1.0052	10	0.41790	T	0.15	.	10.1389	0.42723	0.1814:0.1089:0.7096:0.0	.	716;716;721	D6REZ4;Q9C093-2;Q9C093	.;.;SPEF2_HUMAN	N	721;716;716;227	ENSP00000348314:D721N;ENSP00000421593:D716N;ENSP00000412125:D716N;ENSP00000421744:D227N	ENSP00000348314:D721N	D	+	1	0	SPEF2	35736374	1.000000	0.71417	0.517000	0.27799	0.018000	0.09664	1.238000	0.32707	-0.451000	0.07097	-0.795000	0.03280	GAC	-	pfam_Adenylate_kin,superfamily_P-loop_NTPase		0.363	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SPEF2	protein_coding	OTTHUMT00000367199.1	G	NM_144722	-		35700617	+1	no_errors	ENST00000356031	ensembl	human	known	74_37	missense	SNP	0.819	A
SCN9A	6335	genome.wustl.edu	37	2	167085227	167085227	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr2:167085227G>T	ENST00000409435.1	-	21	4179	c.4180C>A	c.(4180-4182)Ctt>Att	p.L1394I	SCN9A_ENST00000409672.1_Missense_Mutation_p.L1383I|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Missense_Mutation_p.L1395I|SCN9A_ENST00000375387.4_Missense_Mutation_p.L1395I			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1394					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)	AGGTAACCAAGTCCGACATTA	0.353																																																	0								ENSG00000169432						183.0	180.0	181.0					2																	167085227		1868	4119	5987	SCN9A	SO:0001583	missense	0			-	HGNC	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.4180C>A	2.37:g.167085227G>T	ENSP00000386330:p.Leu1394Ile	Somatic	0	57	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	9	70.00	A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	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.L1395I	ENST00000409435.1	37	c.4183	CCDS46441.1	2	.	.	.	.	.	.	.	.	.	.	G	9.799	1.179898	0.21787	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435	D;D;D;D	0.98455	-4.94;-4.94;-4.94;-4.94	5.23	3.27	0.37495	.	0.466032	0.20443	N	0.092245	D	0.93497	0.7925	N	0.16602	0.42	0.31333	N	0.684521	B	0.09022	0.002	B	0.16722	0.016	D	0.89420	0.3709	10	0.25751	T	0.34	.	7.7026	0.28632	0.0:0.402:0.3567:0.2413	.	1383	E7EUN6	.	I	1383;1395;1395;1394	ENSP00000386306:L1383I;ENSP00000364536:L1395I;ENSP00000304748:L1395I;ENSP00000386330:L1394I	ENSP00000304748:L1395I	L	-	1	0	SCN9A	166793473	0.051000	0.20477	1.000000	0.80357	0.902000	0.53008	0.954000	0.29175	2.454000	0.82982	0.557000	0.71058	CTT	-	pfam_Ion_trans_dom		0.353	SCN9A-004	KNOWN	basic|CCDS	protein_coding	SCN9A	protein_coding	OTTHUMT00000333639.1	G	NM_002977	-		167085227	-1	no_errors	ENST00000303354	ensembl	human	known	74_37	missense	SNP	0.994	T
ADAM22	53616	genome.wustl.edu	37	7	87774475	87774475	+	Silent	SNP	T	T	A			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr7:87774475T>A	ENST00000265727.7	+	16	1435	c.1356T>A	c.(1354-1356)atT>atA	p.I452I	ADAM22_ENST00000398209.3_Silent_p.I452I|ADAM22_ENST00000398204.4_Silent_p.I452I|ADAM22_ENST00000315984.7_Silent_p.I452I|ADAM22_ENST00000398201.4_Silent_p.I452I			Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	452	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				adult locomotory behavior (GO:0008344)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell adhesion (GO:0007162)	integral component of membrane (GO:0016021)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			ATGGCTTCATTGAAACTGGAG	0.423																																																	0								ENSG00000008277						136.0	129.0	131.0					7																	87774475		1855	4095	5950	ADAM22	SO:0001819	synonymous_variant	0			-	HGNC	AB009671	CCDS43608.1, CCDS43609.1, CCDS43610.1, CCDS47637.1	7q21	2008-07-18	2005-08-18		ENSG00000008277	ENSG00000008277		"""ADAM metallopeptidase domain containing"""	201	protein-coding gene	gene with protein product	"""metalloproteinase-like, disintegrin-like, and cysteine-rich protein 2"""	603709	"""a disintegrin and metalloproteinase domain 22"""			9693107, 10524237	Standard	NM_021723		Approved	MDC2	uc003ujn.3	Q9P0K1	OTTHUMG00000137417	ENST00000265727.7:c.1356T>A	7.37:g.87774475T>A		Somatic	0	69	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	83	17.82	O75075|O75076|Q9P0K2|Q9UIA1|Q9UKK2	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.I452	ENST00000265727.7	37	c.1356	CCDS47637.1	7																																																																																			-	pfscan_Blood-coag_inhib_Disintegrin		0.423	ADAM22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADAM22	protein_coding	OTTHUMT00000268370.2	T	NM_021723	-		87774475	+1	no_errors	ENST00000265727	ensembl	human	known	74_37	silent	SNP	1.000	A
TCEA2	6919	genome.wustl.edu	37	20	62701234	62701234	+	Intron	SNP	C	C	T			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr20:62701234C>T	ENST00000343484.5	+	6	686				TCEA2_ENST00000395053.3_Missense_Mutation_p.P193S|TCEA2_ENST00000465111.1_3'UTR|TCEA2_ENST00000361317.2_Intron	NM_003195.4	NP_003186.1	Q15560	TCEA2_HUMAN	transcription elongation factor A (SII), 2						DNA-templated transcription, elongation (GO:0006354)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription, elongation (GO:0032784)	centrosome (GO:0005813)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)	12	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					GGCTGCCTGGCCTGGTGCCCT	0.652											OREG0026140	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000171703						61.0	59.0	60.0					20																	62701234		692	1591	2283	TCEA2	SO:0001627	intron_variant	0			-	HGNC	U86749	CCDS13553.1, CCDS13554.1	20q13.33	2011-01-25			ENSG00000171703	ENSG00000171703			11614	protein-coding gene	gene with protein product		604784				9441762, 8566795	Standard	NM_003195		Approved	TFIIS	uc021wgq.1	Q15560	OTTHUMG00000033026	ENST00000343484.5:c.517+60C>T	20.37:g.62701234C>T		Somatic	0	30	0.00	1063	0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	19	13.64	B3KNM1|Q8TD37|Q8TD38	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_TFIIS_N,pfam_TFIIS_cen_dom,superfamily_TFIIS_N,superfamily_TFIIS_cen_dom,smart_TFIIS/CRSP70_N_sub,pirsf_TF_IIS-rel	p.P193S	ENST00000343484.5	37	c.577	CCDS13553.1	20	.	.	.	.	.	.	.	.	.	.	C	13.99	2.402325	0.42613	.	.	ENSG00000171703	ENST00000395053	.	.	.	2.92	-1.64	0.08318	.	.	.	.	.	T	0.17789	0.0427	.	.	.	0.09310	N	1	B	0.18461	0.028	B	0.14578	0.011	T	0.24657	-1.0154	6	.	.	.	.	3.9665	0.09434	0.0:0.2921:0.3552:0.3527	.	193	Q86VL0	.	S	193	.	.	P	+	1	0	TCEA2	62171678	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.404000	0.07205	-0.331000	0.08501	0.561000	0.74099	CCT	-	pirsf_TF_IIS-rel		0.652	TCEA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCEA2	protein_coding	OTTHUMT00000080277.2	C	NM_198723	-		62701234	+1	no_errors	ENST00000395053	ensembl	human	known	74_37	missense	SNP	0.000	T
FSTL1	11167	genome.wustl.edu	37	3	120130771	120130771	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr3:120130771G>T	ENST00000295633.3	-	4	584	c.228C>A	c.(226-228)caC>caA	p.H76Q	FSTL1_ENST00000424703.2_Missense_Mutation_p.H41Q	NM_007085.4	NP_009016.1	Q12841	FSTL1_HUMAN	follistatin-like 1	76	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				BMP signaling pathway (GO:0030509)|response to starvation (GO:0042594)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(1)	20				GBM - Glioblastoma multiforme(114;0.189)		GCAGTTCACAGTGGTTGAGGT	0.488																																																	0								ENSG00000163430						244.0	193.0	210.0					3																	120130771		2203	4300	6503	FSTL1	SO:0001583	missense	0			-	HGNC	U06863	CCDS2998.1	3q13.33	2013-01-10			ENSG00000163430	ENSG00000163430		"""EF-hand domain containing"""	3972	protein-coding gene	gene with protein product		605547				7957230, 9786430	Standard	NM_007085		Approved	FRP, FSL1	uc003eds.3	Q12841	OTTHUMG00000159440	ENST00000295633.3:c.228C>A	3.37:g.120130771G>T	ENSP00000295633:p.His76Gln	Somatic	0	69	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.70	A8K523|B4DTT5|D3DN90|Q549Z0	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Kazal_dom,pfam_Follistatin/Osteonectin_EGF,smart_Fol_N,smart_Kazal_dom,pfscan_EF_hand_dom	p.H76Q	ENST00000295633.3	37	c.228	CCDS2998.1	3	.	.	.	.	.	.	.	.	.	.	G	19.07	3.756389	0.69648	.	.	ENSG00000163430	ENST00000295633;ENST00000424703;ENST00000469005	T;T;T	0.03801	3.8;3.8;3.8	5.22	2.42	0.29668	Proteinase inhibitor I1, Kazal (1);Protease inhibitor, Kazal-type (1);	0.000000	0.85682	D	0.000000	T	0.14527	0.0351	L	0.56340	1.77	0.51482	D	0.999928	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.995;0.998	T	0.00141	-1.1999	10	0.72032	D	0.01	-23.1113	9.9136	0.41421	0.2891:0.0:0.7109:0.0	.	41;76;76	B4DTT5;A8K523;Q12841	.;.;FSTL1_HUMAN	Q	76;41;76	ENSP00000295633:H76Q;ENSP00000394355:H41Q;ENSP00000418505:H76Q	ENSP00000295633:H76Q	H	-	3	2	FSTL1	121613461	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.507000	0.53371	0.202000	0.20498	0.555000	0.69702	CAC	-	pfam_Kazal_dom,smart_Kazal_dom		0.488	FSTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FSTL1	protein_coding	OTTHUMT00000355399.1	G	NM_007085	-		120130771	-1	no_errors	ENST00000295633	ensembl	human	known	74_37	missense	SNP	1.000	T
INTS7	25896	genome.wustl.edu	37	1	212180602	212180602	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr1:212180602G>A	ENST00000366994.3	-	6	850	c.746C>T	c.(745-747)aCa>aTa	p.T249I	INTS7_ENST00000366992.3_Missense_Mutation_p.T249I|INTS7_ENST00000440600.2_Missense_Mutation_p.T200I|INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000366993.3_Missense_Mutation_p.T249I	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	249					cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|snRNA processing (GO:0016180)	chromosome (GO:0005694)|integrator complex (GO:0032039)				NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		CTGCTTAGGTGTATCAACCAA	0.378																																																	0								ENSG00000143493						82.0	71.0	75.0					1																	212180602		2203	4300	6503	INTS7	SO:0001583	missense	0			-	HGNC	AK022509	CCDS1501.1, CCDS55684.1, CCDS55683.1, CCDS55685.1	1q32.3	2008-02-05	2006-03-15	2006-03-15	ENSG00000143493	ENSG00000143493			24484	protein-coding gene	gene with protein product		611350	"""chromosome 1 open reading frame 73"""	C1orf73		16239144	Standard	NM_015434		Approved	DKFZP434B168, INT7	uc001hiw.2	Q9NVH2	OTTHUMG00000037119	ENST00000366994.3:c.746C>T	1.37:g.212180602G>A	ENSP00000355961:p.Thr249Ile	Somatic	0	44	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	B4DLZ6|B7WNP6|B7WPB6|Q8N4K7|Q8WUH5|Q9H9V3|Q9NVU5|Q9UFC6|Q9UFM3	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	superfamily_ARM-type_fold	p.T200I	ENST00000366994.3	37	c.599	CCDS1501.1	1	.	.	.	.	.	.	.	.	.	.	G	7.029	0.560289	0.13498	.	.	ENSG00000143493	ENST00000366994;ENST00000366993;ENST00000366992;ENST00000440600	T;T;T;T	0.20463	2.07;2.07;2.07;2.07	6.08	6.08	0.98989	Armadillo-like helical (1);Armadillo-type fold (1);	0.043517	0.85682	D	0.000000	T	0.03959	0.0111	N	0.00217	-1.83	0.45777	D	0.99866	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.0;0.002;0.002;0.002	T	0.42361	-0.9456	10	0.06236	T	0.91	-20.4729	8.007	0.30332	0.1834:0.0:0.8166:0.0	.	200;249;249;249	B4DLZ6;Q9NVH2-3;Q9NVH2-2;Q9NVH2	.;.;.;INT7_HUMAN	I	249;249;249;200	ENSP00000355961:T249I;ENSP00000355960:T249I;ENSP00000355959:T249I;ENSP00000388908:T200I	ENSP00000355959:T249I	T	-	2	0	INTS7	210247225	1.000000	0.71417	0.963000	0.40424	0.991000	0.79684	6.882000	0.75589	2.894000	0.99253	0.591000	0.81541	ACA	-	superfamily_ARM-type_fold		0.378	INTS7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	INTS7	protein_coding	OTTHUMT00000090142.1	G	NM_015434	-		212180602	-1	no_errors	ENST00000440600	ensembl	human	known	74_37	missense	SNP	0.998	A
DCC	1630	genome.wustl.edu	37	18	50985690	50985690	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr18:50985690G>A	ENST00000442544.2	+	24	4097	c.3481G>A	c.(3481-3483)Gag>Aag	p.E1161K	DCC_ENST00000581580.1_Missense_Mutation_p.E796K	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	1161					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TGAAGAAATGGAGATGAAAAA	0.522																																																	0								ENSG00000187323						95.0	97.0	96.0					18																	50985690		2203	4300	6503	DCC	SO:0001583	missense	0			-	HGNC	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.3481G>A	18.37:g.50985690G>A	ENSP00000389140:p.Glu1161Lys	Somatic	0	40	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	27	25.00		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.E1161K	ENST00000442544.2	37	c.3481	CCDS11952.1	18	.	.	.	.	.	.	.	.	.	.	G	17.03	3.284158	0.59867	.	.	ENSG00000187323	ENST00000442544	T	0.68025	-0.3	5.93	5.93	0.95920	Neogenin, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.81669	0.4871	M	0.68593	2.085	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.81936	-0.0705	10	0.72032	D	0.01	-10.6014	19.1254	0.93380	0.0:0.0:1.0:0.0	.	1161	P43146	DCC_HUMAN	K	1161	ENSP00000389140:E1161K	ENSP00000389140:E1161K	E	+	1	0	DCC	49239688	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.322000	0.96357	2.826000	0.97356	0.655000	0.94253	GAG	-	pfam_Neogenin_C		0.522	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCC	protein_coding	OTTHUMT00000255996.3	G	NM_005215	-		50985690	+1	no_errors	ENST00000442544	ensembl	human	known	74_37	missense	SNP	1.000	A
GMFG	9535	genome.wustl.edu	37	19	39819656	39819656	+	Missense_Mutation	SNP	G	G	C			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr19:39819656G>C	ENST00000597595.1	-	6	549	c.341C>G	c.(340-342)aCa>aGa	p.T114R	GMFG_ENST00000600322.1_Missense_Mutation_p.T81R|GMFG_ENST00000602185.1_Missense_Mutation_p.T65R|GMFG_ENST00000253054.8_Missense_Mutation_p.T81R|GMFG_ENST00000594700.1_Intron|GMFG_ENST00000601387.1_Missense_Mutation_p.T73R|GMFG_ENST00000598034.1_Missense_Mutation_p.T114R|GMFG_ENST00000595636.1_3'UTR	NM_004877.2	NP_004868.1	O60234	GMFG_HUMAN	glia maturation factor, gamma	114	ADF-H. {ECO:0000255|PROSITE- ProRule:PRU00599}.				negative regulation of protein kinase activity (GO:0006469)|positive regulation of catalytic activity (GO:0043085)|protein phosphorylation (GO:0006468)	intracellular (GO:0005622)	enzyme activator activity (GO:0008047)|protein kinase inhibitor activity (GO:0004860)			breast(1)|large_intestine(2)|liver(2)|lung(3)|skin(1)|stomach(1)	10	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.15e-27)|all cancers(26;1.3e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			GAGCTCTGCTGTCTGCACCAG	0.562																																																	0								ENSG00000130755						191.0	159.0	170.0					19																	39819656		2203	4300	6503	GMFG	SO:0001583	missense	0			-	HGNC	AB001993	CCDS12532.1, CCDS74364.1	19q13.2	2014-08-12			ENSG00000130755	ENSG00000130755			4374	protein-coding gene	gene with protein product		604104				9545571, 9653160, 17127212	Standard	XM_005259440		Approved		uc002okz.4	O60234	OTTHUMG00000182811	ENST00000597595.1:c.341C>G	19.37:g.39819656G>C	ENSP00000472249:p.Thr114Arg	Somatic	0	41	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	41	12.77	Q6IB37	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin,pirsf_GMF-beta	p.T114R	ENST00000597595.1	37	c.341	CCDS12532.1	19	.	.	.	.	.	.	.	.	.	.	G	13.29	2.194277	0.38806	.	.	ENSG00000130755	ENST00000253054	.	.	.	5.44	4.38	0.52667	Actin-binding, cofilin/tropomyosin type (3);	0.150560	0.43416	D	0.000579	T	0.68833	0.3044	M	0.74546	2.27	0.53688	D	0.999974	P;D	0.69078	0.903;0.997	B;P	0.60173	0.258;0.87	T	0.67027	-0.5774	9	0.19147	T	0.46	-15.0678	12.3569	0.55180	0.0838:0.0:0.9162:0.0	.	114;114	O60234;Q6IB37	GMFG_HUMAN;.	R	114	.	ENSP00000253054:T114R	T	-	2	0	GMFG	44511496	1.000000	0.71417	0.955000	0.39395	0.977000	0.68977	5.536000	0.67180	1.249000	0.43950	0.655000	0.94253	ACA	-	pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin,pirsf_GMF-beta		0.562	GMFG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GMFG	protein_coding	OTTHUMT00000463839.1	G		-		39819656	-1	no_errors	ENST00000597595	ensembl	human	known	74_37	missense	SNP	0.996	C
DRD3	1814	genome.wustl.edu	37	3	113850079	113850079	+	Missense_Mutation	SNP	C	C	A			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr3:113850079C>A	ENST00000460779.1	-	7	1181	c.892G>T	c.(892-894)Gtt>Ttt	p.V298F	DRD3_ENST00000467632.1_Missense_Mutation_p.V298F|DRD3_ENST00000295881.7_Intron|DRD3_ENST00000383673.2_Missense_Mutation_p.V298F	NM_001282563.1	NP_001269492.1	P35462	DRD3_HUMAN	dopamine receptor D3	298					acid secretion (GO:0046717)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|arachidonic acid secretion (GO:0050482)|behavioral response to cocaine (GO:0048148)|cellular calcium ion homeostasis (GO:0006874)|circadian regulation of gene expression (GO:0032922)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway (GO:0007186)|gastric emptying (GO:0035483)|learning (GO:0007612)|learning or memory (GO:0007611)|locomotory behavior (GO:0007626)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein secretion (GO:0050709)|negative regulation of sodium:proton antiporter activity (GO:0032416)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of mitosis (GO:0045840)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prepulse inhibition (GO:0060134)|regulation of blood volume by renin-angiotensin (GO:0002016)|regulation of cAMP metabolic process (GO:0030814)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|regulation of dopamine secretion (GO:0014059)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of lipid metabolic process (GO:0019216)|regulation of locomotion involved in locomotory behavior (GO:0090325)|regulation of multicellular organism growth (GO:0040014)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to histamine (GO:0034776)|response to morphine (GO:0043278)|social behavior (GO:0035176)|synaptic transmission, dopaminergic (GO:0001963)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|cell projection (GO:0042995)|endocytic vesicle (GO:0030139)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Amisulpride(DB06288)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Domperidone(DB01184)|Dopamine(DB00988)|Haloperidol(DB00502)|Iloperidone(DB04946)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pimozide(DB01100)|Pramipexole(DB00413)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sulpiride(DB00391)|Yohimbine(DB01392)|Ziprasidone(DB00246)	AGTTTTCGAACTTCTAAGCTG	0.532																																																	0								ENSG00000151577						183.0	189.0	187.0					3																	113850079		2203	4300	6503	DRD3	SO:0001583	missense	0			-	HGNC		CCDS2978.1, CCDS33829.1	3q13.3	2012-08-08			ENSG00000151577	ENSG00000151577		"""GPCR / Class A : Dopamine receptors"""	3024	protein-coding gene	gene with protein product		126451				1916765	Standard	XM_005247171		Approved		uc003ebc.1	P35462	OTTHUMG00000159334	ENST00000460779.1:c.892G>T	3.37:g.113850079C>A	ENSP00000419402:p.Val298Phe	Somatic	0	86	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	34	24.44	A1A4V5|Q4VBM8	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Dopamine_D3_rcpt,prints_GPCR_Rhodpsn,prints_Dopamine_rcpt	p.V298F	ENST00000460779.1	37	c.892	CCDS2978.1	3	.	.	.	.	.	.	.	.	.	.	C	16.98	3.270257	0.59540	.	.	ENSG00000151577	ENST00000460779;ENST00000467632;ENST00000383673	T;T;T	0.73789	-0.78;-0.78;-0.78	5.52	5.52	0.82312	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000001	T	0.74038	0.3664	L	0.52206	1.635	0.47778	D	0.999516	P;P;P	0.44816	0.844;0.844;0.73	P;P;P	0.49597	0.616;0.515;0.616	T	0.68025	-0.5518	10	0.20046	T	0.44	.	12.552	0.56231	0.0:0.924:0.0:0.076	.	298;298;298	A1A4V4;A8K8E4;P35462	.;.;DRD3_HUMAN	F	298	ENSP00000419402:V298F;ENSP00000420662:V298F;ENSP00000373169:V298F	ENSP00000373169:V298F	V	-	1	0	DRD3	115332769	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	4.971000	0.63749	2.866000	0.98385	0.650000	0.86243	GTT	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Dopamine_D3_rcpt		0.532	DRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DRD3	protein_coding	OTTHUMT00000354699.1	C	NM_000796.3	-		113850079	-1	no_errors	ENST00000383673	ensembl	human	known	74_37	missense	SNP	1.000	A
ACRBP	84519	genome.wustl.edu	37	12	6753720	6753720	+	Missense_Mutation	SNP	A	A	C			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr12:6753720A>C	ENST00000229243.2	-	5	620	c.527T>G	c.(526-528)gTg>gGg	p.V176G	ACRBP_ENST00000536350.1_Missense_Mutation_p.V176G|ACRBP_ENST00000542357.1_5'Flank|ACRBP_ENST00000414226.2_Intron	NM_032489.2	NP_115878.2			acrosin binding protein											NS(1)|breast(1)|central_nervous_system(1)|large_intestine(8)|lung(5)|ovary(1)	17						GAGCTCTTCCACGTTGTTGCT	0.587																																																	0								ENSG00000111644						80.0	75.0	77.0					12																	6753720		2203	4300	6503	ACRBP	SO:0001583	missense	0			-	HGNC	AB051833	CCDS8554.1	12p13.31	2009-03-12			ENSG00000111644	ENSG00000111644			17195	protein-coding gene	gene with protein product	"""proacrosin binding protein sp32"", ""cancer/testis antigen 23"""	608352				11248070	Standard	NM_032489		Approved	SP32, OY-TES-1, CT23	uc001qpu.1	Q8NEB7	OTTHUMG00000168715	ENST00000229243.2:c.527T>G	12.37:g.6753720A>C	ENSP00000229243:p.Val176Gly	Somatic	0	55	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	11	72.50		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Proacrosin-bd	p.V176G	ENST00000229243.2	37	c.527	CCDS8554.1	12	.	.	.	.	.	.	.	.	.	.	A	18.59	3.657722	0.67586	.	.	ENSG00000111644	ENST00000229243;ENST00000536350	T	0.57436	0.4	4.64	4.64	0.57946	.	0.127261	0.35067	N	0.003465	T	0.56834	0.2012	L	0.60455	1.87	0.58432	D	0.999999	P	0.41131	0.739	P	0.48114	0.567	T	0.61633	-0.7023	10	0.87932	D	0	0.3069	10.3671	0.44030	1.0:0.0:0.0:0.0	.	176	Q8NEB7	ACRBP_HUMAN	G	176	ENSP00000229243:V176G	ENSP00000229243:V176G	V	-	2	0	ACRBP	6623981	0.996000	0.38824	0.992000	0.48379	0.925000	0.55904	4.300000	0.59079	1.945000	0.56424	0.459000	0.35465	GTG	-	pfam_Proacrosin-bd		0.587	ACRBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACRBP	protein_coding	OTTHUMT00000400703.1	A	NM_032489	-		6753720	-1	no_errors	ENST00000229243	ensembl	human	known	74_37	missense	SNP	0.979	C
SPHKAP	80309	genome.wustl.edu	37	2	228883837	228883837	+	Missense_Mutation	SNP	T	T	C	rs370073181		TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr2:228883837T>C	ENST00000392056.3	-	7	1779	c.1733A>G	c.(1732-1734)gAg>gGg	p.E578G	SPHKAP_ENST00000344657.5_Missense_Mutation_p.E578G	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	578						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)	p.E578V(1)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GCATGTCACCTCTTCTCTTTC	0.552																																																	1	Substitution - Missense(1)	breast(1)						ENSG00000153820	T	GLY/GLU,GLY/GLU	0,4406		0,0,2203	78.0	72.0	74.0		1733,1733	4.7	0.9	2		74	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	SPHKAP	NM_030623.3,NM_001142644.1	98,98	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	benign,benign	578/1672,578/1701	228883837	1,13005	2203	4300	6503	SPHKAP	SO:0001583	missense	0			-	HGNC		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.1733A>G	2.37:g.228883837T>C	ENSP00000375909:p.Glu578Gly	Somatic	0	27	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	16	30.43	Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_AKAP_110_C	p.E578G	ENST00000392056.3	37	c.1733	CCDS46537.1	2	.	.	.	.	.	.	.	.	.	.	T	15.49	2.848937	0.51164	0.0	1.16E-4	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.52295	0.67;0.67	5.84	4.68	0.58851	.	0.211367	0.48767	D	0.000165	T	0.48607	0.1509	M	0.73598	2.24	0.39967	D	0.974741	B;P	0.38473	0.058;0.633	B;B	0.37198	0.028;0.243	T	0.55477	-0.8135	10	0.87932	D	0	.	11.2548	0.49048	0.0:0.0713:0.0:0.9287	.	578;578	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	G	578	ENSP00000375909:E578G;ENSP00000339886:E578G	ENSP00000339886:E578G	E	-	2	0	SPHKAP	228592081	0.983000	0.35010	0.921000	0.36526	0.868000	0.49771	2.213000	0.42844	1.027000	0.39758	0.533000	0.62120	GAG	-	NULL		0.552	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPHKAP	protein_coding	OTTHUMT00000331750.1	T	NM_030623	-		228883837	-1	no_errors	ENST00000392056	ensembl	human	known	74_37	missense	SNP	0.995	C
CACNA1B	774	genome.wustl.edu	37	9	140852096	140852096	+	Silent	SNP	C	C	T			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr9:140852096C>T	ENST00000371372.1	+	10	1435	c.1290C>T	c.(1288-1290)caC>caT	p.H430H	CACNA1B_ENST00000371363.1_Silent_p.H430H|CACNA1B_ENST00000277551.2_Silent_p.H430H|CACNA1B_ENST00000371355.4_Silent_p.H431H|CACNA1B_ENST00000371357.1_Silent_p.H431H|CACNA1B_ENST00000277549.5_5'UTR	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	430					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	ACCTGATCCACGCAGAGGAGG	0.572																																																	0								ENSG00000148408						91.0	111.0	104.0					9																	140852096		2129	4252	6381	CACNA1B	SO:0001819	synonymous_variant	0			-	HGNC	AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.1290C>T	9.37:g.140852096C>T		Somatic	0	20	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	4	80.00	B1AQK5	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_N_a1su,prints_PKD_2	p.H431	ENST00000371372.1	37	c.1293	CCDS59522.1	9																																																																																			-	NULL		0.572	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1B	protein_coding	OTTHUMT00000055380.1	C	NM_000718	-		140852096	+1	no_errors	ENST00000371355	ensembl	human	known	74_37	silent	SNP	0.995	T
CNOT6	57472	genome.wustl.edu	37	5	179921643	179921643	+	5'UTR	SNP	C	C	A			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr5:179921643C>A	ENST00000393356.1	+	0	134				CNOT6_ENST00000261951.4_5'UTR			Q9ULM6	CNOT6_HUMAN	CCR4-NOT transcription complex, subunit 6						exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|gene silencing by miRNA (GO:0035195)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of ligand-dependent nuclear receptor transcription coactivator activity (GO:2000327)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	exoribonuclease activity (GO:0004532)|metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|skin(1)	23	all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.023)		AGAGGAGCGGCGGCGGTGGCG	0.731																																																	0								ENSG00000113300																																			CNOT6	SO:0001623	5_prime_UTR_variant	0			-	HGNC	AB033020	CCDS4455.1	5q35.3	2014-06-17			ENSG00000113300	ENSG00000113300			14099	protein-coding gene	gene with protein product		608951				11889047	Standard	XM_005265953		Approved	CCR4, KIAA1194, Ccr4a	uc003mlx.3	Q9ULM6	OTTHUMG00000130935	ENST00000393356.1:c.-291C>A	5.37:g.179921643C>A		Somatic	0	22	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	11	38.89	A7MD46|D3DWR0	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000393356.1	37	NULL	CCDS4455.1	5																																																																																			-	-		0.731	CNOT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNOT6	protein_coding	OTTHUMT00000253532.1	C	NM_015455	-		179921643	+1	no_errors	ENST00000507016	ensembl	human	putative	74_37	rna	SNP	0.998	A
OR1L1	26737	genome.wustl.edu	37	9	125424787	125424787	+	Missense_Mutation	SNP	A	A	T			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr9:125424787A>T	ENST00000373686.1	+	1	943	c.943A>T	c.(943-945)Aac>Tac	p.N315Y	OR1L1_ENST00000309623.1_Missense_Mutation_p.N265Y			Q8NH94	OR1L1_HUMAN	olfactory receptor, family 1, subfamily L, member 1	315						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						GCCCCTGTCCAACTATACTGT	0.408																																																	0								ENSG00000173679						150.0	148.0	149.0					9																	125424787		2203	4300	6503	OR1L1	SO:0001583	missense	0			-	HGNC		CCDS35127.1, CCDS35127.2	9q33.2	2013-09-20			ENSG00000173679	ENSG00000173679		"""GPCR / Class A : Olfactory receptors"""	8213	protein-coding gene	gene with protein product				OR1L2			Standard	NM_001005236		Approved	OR9-C	uc022bmz.1	Q8NH94	OTTHUMG00000020618	ENST00000373686.1:c.943A>T	9.37:g.125424787A>T	ENSP00000362790:p.Asn315Tyr	Somatic	0	34	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	15	53.12	Q5T7Z3|Q6IFN2	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.N315Y	ENST00000373686.1	37	c.943		9	.	.	.	.	.	.	.	.	.	.	A	14.56	2.572860	0.45798	.	.	ENSG00000173679	ENST00000373686;ENST00000309623	T;T	0.00123	8.7;8.7	3.26	3.26	0.37387	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00178	0.0005	N	0.21097	0.63	0.09310	N	1	D	0.55385	0.971	P	0.56163	0.793	T	0.59150	-0.7508	9	0.54805	T	0.06	.	7.3013	0.26422	0.8029:0.0:0.0:0.1971	.	315	Q8NH94	OR1L1_HUMAN	Y	315;265	ENSP00000362790:N315Y;ENSP00000310773:N265Y	ENSP00000310773:N265Y	N	+	1	0	OR1L1	124464608	0.028000	0.19301	0.003000	0.11579	0.335000	0.28730	2.870000	0.48451	1.470000	0.48102	0.260000	0.18958	AAC	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.408	OR1L1-201	KNOWN	basic	protein_coding	OR1L1	protein_coding		A		-		125424787	+1	no_errors	ENST00000373686	ensembl	human	known	74_37	missense	SNP	0.000	T
ABCA13	154664	genome.wustl.edu	37	7	48312039	48312039	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr7:48312039G>T	ENST00000435803.1	+	17	2800	c.2776G>T	c.(2776-2778)Gca>Tca	p.A926S		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	926					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.A926T(1)|p.A871T(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TATCAGGAATGCATCTGATCT	0.393																																																	2	Substitution - Missense(2)	lung(2)						ENSG00000179869						64.0	60.0	61.0					7																	48312039		1860	4102	5962	ABCA13	SO:0001583	missense	0			-	HGNC	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.2776G>T	7.37:g.48312039G>T	ENSP00000411096:p.Ala926Ser	Somatic	0	41	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	37	22.92	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.A926S	ENST00000435803.1	37	c.2776	CCDS47584.1	7	.	.	.	.	.	.	.	.	.	.	G	7.161	0.585696	0.13749	.	.	ENSG00000179869	ENST00000435803	D	0.86297	-2.1	5.57	-0.489	0.12052	.	1.445340	0.04423	N	0.367855	T	0.81250	0.4783	L	0.54323	1.7	0.09310	N	1	P	0.35077	0.483	B	0.30943	0.122	T	0.67632	-0.5621	10	0.87932	D	0	.	1.7224	0.02915	0.3492:0.131:0.3867:0.1331	.	926	Q86UQ4	ABCAD_HUMAN	S	926	ENSP00000411096:A926S	ENSP00000411096:A926S	A	+	1	0	ABCA13	48282585	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.674000	0.05233	-0.050000	0.13356	0.655000	0.94253	GCA	-	NULL		0.393	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA13	protein_coding	OTTHUMT00000341964.2	G	NM_152701	-		48312039	+1	no_errors	ENST00000435803	ensembl	human	known	74_37	missense	SNP	0.000	T
IPO13	9670	genome.wustl.edu	37	1	44415575	44415575	+	Silent	SNP	C	C	A	rs553921358		TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr1:44415575C>A	ENST00000372343.3	+	2	1233	c.571C>A	c.(571-573)Cgg>Agg	p.R191R		NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	191					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				AGGCCTGGTGCGGACCAGCCT	0.642																																																	0								ENSG00000117408						18.0	19.0	18.0					1																	44415575		2203	4300	6503	IPO13	SO:0001819	synonymous_variant	0			-	HGNC	AB018267	CCDS503.1	1p34.1	2008-02-05			ENSG00000117408	ENSG00000117408		"""Importins"""	16853	protein-coding gene	gene with protein product		610411				9872452, 11447110	Standard	NM_014652		Approved	IMP13, KIAA0724, RANBP13	uc001ckx.3	O94829	OTTHUMG00000008297	ENST00000372343.3:c.571C>A	1.37:g.44415575C>A		Somatic	0	49	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	39	23.53	D3DPY4|Q5T4X3|Q7LC04|Q96HS3|Q9H8N3|Q9UFR1	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.R191	ENST00000372343.3	37	c.571	CCDS503.1	1																																																																																			-	pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold		0.642	IPO13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IPO13	protein_coding	OTTHUMT00000022846.1	C	NM_014652	-		44415575	+1	no_errors	ENST00000372343	ensembl	human	known	74_37	silent	SNP	1.000	A
ZNF343	79175	genome.wustl.edu	37	20	2473378	2473378	+	Missense_Mutation	SNP	T	T	A			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr20:2473378T>A	ENST00000278772.4	-	5	758	c.271A>T	c.(271-273)Atg>Ttg	p.M91L	ZNF343_ENST00000381253.1_Missense_Mutation_p.M91L|ZNF343_ENST00000358413.2_Missense_Mutation_p.M91L|RP4-734P14.4_ENST00000461548.1_Missense_Mutation_p.M91L	NM_001282495.1|NM_001282496.1|NM_024325.4	NP_001269424.1|NP_001269425.1|NP_077301.4	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	91	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						TTCTCCAGCATCACTTCTTTG	0.403																																																	0								ENSG00000088876						241.0	222.0	228.0					20																	2473378		2203	4300	6503	ZNF343	SO:0001583	missense	0			-	HGNC	AK096911	CCDS13028.1, CCDS74692.1, CCDS74693.1, CCDS74694.1	20p13	2013-01-08			ENSG00000088876	ENSG00000088876		"""Zinc fingers, C2H2-type"", ""-"""	16017	protein-coding gene	gene with protein product							Standard	NM_001282498		Approved	MGC10715	uc002wge.1	Q6P1L6	OTTHUMG00000031701	ENST00000278772.4:c.271A>T	20.37:g.2473378T>A	ENSP00000278772:p.Met91Leu	Somatic	0	49	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	34	29.17	Q5JXU8|Q5JXU9|Q8N8F2|Q96EX8|Q96NA5|Q9BQB0	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	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.M91L	ENST00000278772.4	37	c.271	CCDS13028.1	20	.	.	.	.	.	.	.	.	.	.	T	24.6	4.554187	0.86231	.	.	ENSG00000088876	ENST00000278772;ENST00000445484;ENST00000381253;ENST00000358413;ENST00000421216	T;T;T;T;T	0.03181	4.02;4.02;4.02;4.02;4.02	3.96	0.234	0.15390	Krueppel-associated box (4);	.	.	.	.	T	0.14960	0.0361	M	0.86343	2.81	0.09310	N	0.999992	P	0.52463	0.953	D	0.68192	0.956	T	0.08330	-1.0727	9	0.48119	T	0.1	.	3.8105	0.08795	0.3291:0.0972:0.0:0.5736	.	91	Q6P1L6	ZN343_HUMAN	L	91	ENSP00000278772:M91L;ENSP00000399682:M91L;ENSP00000370652:M91L;ENSP00000351188:M91L;ENSP00000416488:M91L	ENSP00000443337:M91L	M	-	1	0	ZNF343	2421378	0.701000	0.27806	0.013000	0.15412	0.989000	0.77384	0.734000	0.26101	-0.071000	0.12886	0.477000	0.44152	ATG	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.403	ZNF343-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF343	protein_coding	OTTHUMT00000077617.1	T	NM_024325	-		2473378	-1	no_errors	ENST00000278772	ensembl	human	known	74_37	missense	SNP	0.468	A
SNRPE	6635	genome.wustl.edu	37	1	203830841	203830841	+	Splice_Site	SNP	C	C	G			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr1:203830841C>G	ENST00000414487.2	+	1	99	c.54C>G	c.(52-54)atC>atG	p.I18M	SNRPE_ENST00000367208.1_5'Flank|SNRPE_ENST00000483099.1_3'UTR	NM_003094.2	NP_003085.1	P62304	RUXE_HUMAN	small nuclear ribonucleoprotein polypeptide E	18					gene expression (GO:0010467)|hair cycle (GO:0042633)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|spliceosomal snRNP assembly (GO:0000387)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|methylosome (GO:0034709)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pICln-Sm protein complex (GO:0034715)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN-Sm protein complex (GO:0034719)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U12-type spliceosomal complex (GO:0005689)|U4 snRNP (GO:0005687)|U7 snRNP (GO:0005683)	RNA binding (GO:0003723)			breast(1)|large_intestine(2)|lung(1)|skin(1)	5	all_cancers(21;0.103)		BRCA - Breast invasive adenocarcinoma(75;0.109)			TGCAGCCCATCGTATCCTACG	0.582																																					Ovarian(83;324 1318 17952 32395 39614)												0								ENSG00000182004						124.0	99.0	108.0					1																	203830841		2203	4300	6503	SNRPE	SO:0001630	splice_region_variant	0			-	HGNC	M37716	CCDS30979.1	1q32	2011-10-11			ENSG00000182004	ENSG00000182004			11161	protein-coding gene	gene with protein product		128260				1835977, 2143747	Standard	NM_003094		Approved	Sm-E	uc001hai.3	P62304	OTTHUMG00000035985	ENST00000414487.2:c.54+1C>G	1.37:g.203830841C>G		Somatic	0	46	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	9	76.92	B2R5B9|P08578|Q15498|Q5BKT2	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc	p.I18M	ENST00000414487.2	37	c.54	CCDS30979.1	1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.627336	0.87560	.	.	ENSG00000182004	ENST00000414487	.	.	.	5.6	4.69	0.59074	Like-Sm ribonucleoprotein (LSM)-related domain (1);	0.000000	0.85682	D	0.000000	T	0.76744	0.4030	.	.	.	0.80722	D	1	D	0.53462	0.96	P	0.60949	0.881	T	0.80353	-0.1418	8	0.87932	D	0	.	14.117	0.65161	0.0:0.9269:0.0:0.0731	.	18	P62304	RUXE_HUMAN	M	18	.	ENSP00000400591:I18M	I	+	3	3	SNRPE	202097464	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.396000	0.44468	1.358000	0.45922	0.609000	0.83330	ATC	-	superfamily_LSM_dom		0.582	SNRPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNRPE	protein_coding	OTTHUMT00000087703.1	C	NM_003094	-	Missense_Mutation	203830841	+1	no_errors	ENST00000414487	ensembl	human	known	74_37	missense	SNP	1.000	G
PIK3CB	5291	genome.wustl.edu	37	3	138478102	138478102	+	Silent	SNP	G	G	C			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr3:138478102G>C	ENST00000477593.1	-	2	157	c.84C>G	c.(82-84)ggC>ggG	p.G28G	PIK3CB_ENST00000289153.2_Silent_p.G28G			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	28	PI3K-ABD. {ECO:0000255|PROSITE- ProRule:PRU00877}.				activation of MAPK activity (GO:0000187)|autophagy (GO:0006914)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|embryonic cleavage (GO:0040016)|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)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of autophagy (GO:0010508)|regulation of cell-matrix adhesion (GO:0001952)|regulation of clathrin-mediated endocytosis (GO:2000369)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|nucleus (GO:0005634)|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)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41					Caffeine(DB00201)	CAGGTATGGAGCCATCAGATG	0.468																																																	0								ENSG00000051382						86.0	82.0	83.0					3																	138478102		2203	4300	6503	PIK3CB	SO:0001819	synonymous_variant	0			-	HGNC		CCDS3104.1	3q22.3	2013-09-19	2012-07-13		ENSG00000051382	ENSG00000051382	2.7.1.153		8976	protein-coding gene	gene with protein product		602925	"""phosphoinositide-3-kinase, catalytic, beta polypeptide"""	PIK3C1		8246984	Standard	NM_006219		Approved		uc011bmq.3	P42338	OTTHUMG00000159893	ENST00000477593.1:c.84C>G	3.37:g.138478102G>C		Somatic	0	40	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	16	44.83	D3DNF0|Q24JU2	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_adapt-bd_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,superfamily_Kinase-like_dom,superfamily_C2_dom,superfamily_ARM-type_fold,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.G28	ENST00000477593.1	37	c.84	CCDS3104.1	3																																																																																			-	NULL		0.468	PIK3CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3CB	protein_coding	OTTHUMT00000358019.1	G		-		138478102	-1	no_errors	ENST00000289153	ensembl	human	known	74_37	silent	SNP	1.000	C
PHKA1	5255	genome.wustl.edu	37	X	71800880	71800880	+	Missense_Mutation	SNP	A	A	C			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chrX:71800880A>C	ENST00000373542.4	-	32	3803	c.3644T>G	c.(3643-3645)cTg>cGg	p.L1215R	PHKA1_ENST00000541944.1_Missense_Mutation_p.L1143R|PHKA1_ENST00000373539.3_Missense_Mutation_p.L1232R|PHKA1_ENST00000373545.3_Missense_Mutation_p.L1173R|PHKA1_ENST00000339490.3_Missense_Mutation_p.L1202R	NM_002637.3	NP_002628.2	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	1215					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					GCTGTGGGGCAGGAACTCCTG	0.562																																																	0								ENSG00000067177						75.0	57.0	63.0					X																	71800880		2203	4300	6503	PHKA1	SO:0001583	missense	0			-	HGNC		CCDS14421.1, CCDS48137.1, CCDS55453.1	Xq12-q13	2009-07-10			ENSG00000067177	ENSG00000067177	2.7.11.19		8925	protein-coding gene	gene with protein product		311870		PHKA			Standard	NM_002637		Approved		uc004eax.4	P46020	OTTHUMG00000022696	ENST00000373542.4:c.3644T>G	X.37:g.71800880A>C	ENSP00000362643:p.Leu1215Arg	Somatic	0	124	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	112	13.18	B7ZL05|B7ZL07|Q2M3D7	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like	p.L1232R	ENST00000373542.4	37	c.3695	CCDS14421.1	X	.	.	.	.	.	.	.	.	.	.	A	22.9	4.355570	0.82243	.	.	ENSG00000067177	ENST00000373545;ENST00000373542;ENST00000541944;ENST00000339490;ENST00000373539	D;D;D;D;D	0.94650	-3.48;-3.48;-3.48;-3.48;-3.48	4.96	4.96	0.65561	.	0.000000	0.64402	D	0.000001	D	0.97087	0.9048	M	0.84683	2.71	0.58432	D	0.999997	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.986;0.991;0.996	D	0.97468	1.0039	10	0.87932	D	0	-5.0252	11.5812	0.50891	1.0:0.0:0.0:0.0	.	1143;1173;1202;1215	B7ZL07;A6NIT2;P46020-2;P46020	.;.;.;KPB1_HUMAN	R	1173;1215;1143;1202;1232	ENSP00000362646:L1173R;ENSP00000362643:L1215R;ENSP00000441251:L1143R;ENSP00000342469:L1202R;ENSP00000362640:L1232R	ENSP00000342469:L1202R	L	-	2	0	PHKA1	71717605	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	8.855000	0.92236	1.634000	0.50500	0.437000	0.28790	CTG	-	NULL		0.562	PHKA1-001	KNOWN	basic|CCDS	protein_coding	PHKA1	protein_coding	OTTHUMT00000058896.1	A		-		71800880	-1	no_errors	ENST00000373539	ensembl	human	known	74_37	missense	SNP	1.000	C
NME9	347736	genome.wustl.edu	37	3	138037031	138037031	+	Nonsense_Mutation	SNP	T	T	A			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr3:138037031T>A	ENST00000333911.3	-	4	253	c.226A>T	c.(226-228)Aag>Tag	p.K76*	NME9_ENST00000383180.2_Nonsense_Mutation_p.K54*|NME9_ENST00000536478.1_Nonsense_Mutation_p.K54*|NME9_ENST00000341790.5_Intron|NME9_ENST00000484930.1_Intron|NME9_ENST00000317876.4_Nonsense_Mutation_p.K54*			Q86XW9	TXND6_HUMAN	NME/NM23 family member 9	76	Thioredoxin.				cell redox homeostasis (GO:0045454)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|UTP biosynthetic process (GO:0006228)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)										CCTCTGTACTTTTCGAGGACA	0.448																																																	0								ENSG00000181322						130.0	114.0	119.0					3																	138037031		2203	4300	6503	NME9	SO:0001587	stop_gained	0			-	HGNC	AF196568	CCDS3099.1	3q22.3	2012-05-18	2012-05-18	2011-08-24	ENSG00000181322	ENSG00000181322			21343	protein-coding gene	gene with protein product			"""thioredoxin domain containing 6"", ""NME gene family member 9"", ""NME family member 9"""	TXNDC6		12569107, 19852809	Standard	NM_178130		Approved	TXL-2, NM23-H9	uc003ese.1	Q86XW9	OTTHUMG00000159823	ENST00000333911.3:c.226A>T	3.37:g.138037031T>A	ENSP00000335444:p.Lys76*	Somatic	0	39	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	30	14.29	Q7Z4A8|Q8N1V7	Nonsense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Nucleoside_diP_kinase,pfam_Thioredoxin_domain,superfamily_Nucleoside_diP_kinase,superfamily_Thioredoxin-like_fold,smart_Nucleoside_diP_kinase,prints_Nucleoside_diP_kinase	p.K76*	ENST00000333911.3	37	c.226		3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	33|33	5.200029|5.200029	0.94997|0.94997	.|.	.|.	ENSG00000181322|ENSG00000181322	ENST00000474690|ENST00000383180;ENST00000317876;ENST00000536478;ENST00000333911;ENST00000475751	.|.	.|.	.|.	4.97|4.97	4.97|4.97	0.65823|0.65823	.|.	0.304579|0.304579	0.34676|0.34676	N|N	0.003768|0.003768	T|.	0.33000|.	0.0848|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.35724|.	-0.9777|.	4|.	.|0.02654	.|T	.|1	-19.3939|-19.3939	12.6045|12.6045	0.56514|0.56514	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|.	.|.	.|.	I|X	45|54;54;54;76;76	.|.	.|ENSP00000321929:K54X	K|K	-|-	2|1	0|0	TXNDC6|TXNDC6	139519721|139519721	1.000000|1.000000	0.71417|0.71417	0.957000|0.957000	0.39632|0.39632	0.654000|0.654000	0.38779|0.38779	2.277000|2.277000	0.43417|0.43417	1.865000|1.865000	0.54081|0.54081	0.402000|0.402000	0.26972|0.26972	AAA|AAG	-	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold		0.448	NME9-003	KNOWN	basic|appris_principal	protein_coding	NME9	protein_coding	OTTHUMT00000357583.1	T	NM_178130	-		138037031	-1	no_errors	ENST00000333911	ensembl	human	known	74_37	nonsense	SNP	0.992	A
PRKXP1	441733	genome.wustl.edu	37	15	101088251	101088254	+	lincRNA	DEL	AACA	AACA	-			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	AACA	AACA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr15:101088251_101088254delAACA	ENST00000602585.1	-	0	2104_2107					NR_073405.1																						TCCATGGTGCAACAAACAGACAAG	0.451																																																	0								ENSG00000270127																																			RP11-526I2.5			0				Clone_based_vega_gene																													15.37:g.101088255_101088258delAACA		Somatic	0	23	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	8	55.56		RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000602585.1	37	NULL		15																																																																																			-	-		0.451	RP11-526I2.5-001	KNOWN	basic	lincRNA	PRKXP1	lincRNA	OTTHUMT00000435966.1	AACA				101088254	-1	no_errors	ENST00000602585	ensembl	human	known	74_37	rna	DEL	0.118:0.119:0.119:0.117	-
TMEM150B	284417	genome.wustl.edu	37	19	55828306	55828306	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr19:55828306G>A	ENST00000326652.4	-	7	535	c.353C>T	c.(352-354)gCa>gTa	p.A118V	TMEM150B_ENST00000438693.1_Missense_Mutation_p.A118V	NM_001282011.1	NP_001268940.1	A6NC51	T150B_HUMAN	transmembrane protein 150B	118						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(1)	3						GAAGGCCCCTGCCAAGTGCGT	0.627																																																	0								ENSG00000180061						30.0	33.0	32.0					19																	55828306		1927	4111	6038	TMEM150B	SO:0001583	missense	0			-	HGNC	BC020862	CCDS42629.1	19q13.42	2009-06-12	2009-06-12	2009-06-12		ENSG00000180061			34415	protein-coding gene	gene with protein product			"""transmembrane protein 224"""	TMEM224			Standard	XM_005258812		Approved		uc010esw.1	A6NC51		ENST00000326652.4:c.353C>T	19.37:g.55828306G>A	ENSP00000320757:p.Ala118Val	Somatic	0	60	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	32	11.11	B7ZW71	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Frag1/DRAM/Sfk1	p.A118V	ENST00000326652.4	37	c.353	CCDS42629.1	19	.	.	.	.	.	.	.	.	.	.	.	0.009	-1.854365	0.00558	.	.	ENSG00000180061	ENST00000326652;ENST00000438693	T;T	0.39406	1.08;1.08	5.15	-1.39	0.08997	.	1.073430	0.07175	N	0.853050	T	0.16171	0.0389	N	0.02830	-0.485	0.09310	N	1	B	0.14438	0.01	B	0.10450	0.005	T	0.28332	-1.0047	10	0.08837	T	0.75	0.049	7.5643	0.27870	0.5377:0.0:0.4623:0.0	.	118	A6NC51	T150B_HUMAN	V	118	ENSP00000320757:A118V;ENSP00000412658:A118V	ENSP00000320757:A118V	A	-	2	0	TMEM150B	60520118	0.000000	0.05858	0.001000	0.08648	0.043000	0.13939	0.600000	0.24104	0.039000	0.15632	-0.291000	0.09656	GCA	-	pfam_Frag1/DRAM/Sfk1		0.627	TMEM150B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM150B	protein_coding	OTTHUMT00000452685.1	G	NM_001085488	-		55828306	-1	no_errors	ENST00000326652	ensembl	human	known	74_37	missense	SNP	0.000	A
MYT1	4661	genome.wustl.edu	37	20	62850214	62850214	+	Silent	SNP	G	G	A			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr20:62850214G>A	ENST00000536311.1	+	12	2242	c.1878G>A	c.(1876-1878)agG>agA	p.R626R	MYT1_ENST00000328439.1_Intron|MYT1_ENST00000360149.4_Intron			Q99640	PMYT1_HUMAN	myelin transcription factor 1	33					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					CTTCCCCCAGGCACAGCCCCT	0.537																																					GBM(59;481 1041 20555 21139 33705)												0								ENSG00000196132						80.0	84.0	83.0					20																	62850214		2196	4274	6470	MYT1	SO:0001819	synonymous_variant	0			-	HGNC	M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"""Zinc fingers, C2HC-type containing"""	7622	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 2"""	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000536311.1:c.1878G>A	20.37:g.62850214G>A		Somatic	0	38	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	25	13.79	B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Myelin_TF,pfam_Znf_C2HC	p.R626	ENST00000536311.1	37	c.1878		20																																																																																			-	pfam_Myelin_TF		0.537	MYT1-202	KNOWN	basic	protein_coding	MYT1	protein_coding		G	NM_004535	-		62850214	+1	no_errors	ENST00000536311	ensembl	human	known	74_37	silent	SNP	1.000	A
OR7E94P	79273	genome.wustl.edu	37	4	80508906	80508907	+	RNA	INS	-	-	AA	rs398107552|rs35732335	byFrequency	TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr4:80508906_80508907insAA	ENST00000601375.1	-	0	338_339									olfactory receptor, family 7, subfamily E, member 94 pseudogene																		aataataattgaaaaaaaaAGG	0.406																																																	0								ENSG00000249646																																			OR7E94P			0				HGNC	AC013662		4q21.21	2013-09-24			ENSG00000249646	ENSG00000249646		"""GPCR / Class A : Olfactory receptors"""	14789	pseudogene	pseudogene							Standard	NG_002221		Approved				OTTHUMG00000160914		4.37:g.80508913_80508914dupAA		Somatic	0	16	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	15	16.67		RNA	INS	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000601375.1	37	NULL		4																																																																																			-	-		0.406	OR7E94P-002	KNOWN	basic	processed_transcript	OR7E94P	pseudogene	OTTHUMT00000464523.1	-				80508907	-1	no_errors	ENST00000601375	ensembl	human	known	74_37	rna	INS	0.004:0.015	AA
PCDHAC2	56134	genome.wustl.edu	37	5	140348132	140348132	+	Missense_Mutation	SNP	T	T	G			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr5:140348132T>G	ENST00000289269.5	+	1	2313	c.1781T>G	c.(1780-1782)gTg>gGg	p.V594G	PCDHA1_ENST00000504120.2_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA10_ENST00000506939.2_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2	594	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCGAGATGGTGCCTCGAACT	0.517																																					Melanoma(190;638 2083 3390 11909 52360)												0								ENSG00000243232						101.0	87.0	92.0					5																	140348132		2203	4300	6503	PCDHAC2	SO:0001583	missense	0			-	HGNC	AF152474	CCDS4242.1	5q31	2010-11-26			ENSG00000243232	ENSG00000243232		"""Cadherins / Protocadherins : Clustered"""	8677	other	complex locus constituent		606321				10380929	Standard	NM_031883		Approved	PCDH-ALPHA-C2		Q9Y5I4	OTTHUMG00000129607	ENST00000289269.5:c.1781T>G	5.37:g.140348132T>G	ENSP00000289269:p.Val594Gly	Somatic	0	24	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	21	22.22	Q2M3V1|Q9Y5F4	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.V594G	ENST00000289269.5	37	c.1781	CCDS4242.1	5	.	.	.	.	.	.	.	.	.	.	T	17.72	3.460327	0.63401	.	.	ENSG00000243232	ENST00000289269	T	0.64618	-0.11	5.87	5.87	0.94306	Cadherin (2);Cadherin-like (1);	0.000000	0.38005	N	0.001852	D	0.84183	0.5416	H	0.95004	3.61	0.80722	D	1	D;D	0.67145	0.991;0.996	D;P	0.65684	0.937;0.906	D	0.88767	0.3261	10	0.87932	D	0	.	16.2806	0.82678	0.0:0.0:0.0:1.0	.	594;594	Q9Y5I4-2;Q9Y5I4	.;PCDC2_HUMAN	G	594	ENSP00000289269:V594G	ENSP00000289269:V594G	V	+	2	0	PCDHAC2	140328316	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.040000	0.89188	2.248000	0.74166	0.533000	0.62120	GTG	-	superfamily_Cadherin-like,pfscan_Cadherin		0.517	PCDHAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHAC2	protein_coding	OTTHUMT00000251802.2	T	NM_018899	-		140348132	+1	no_errors	ENST00000289269	ensembl	human	known	74_37	missense	SNP	1.000	G
DNAJC13	23317	genome.wustl.edu	37	3	132235548	132235548	+	Splice_Site	SNP	G	G	A			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr3:132235548G>A	ENST00000260818.6	+	48	5809	c.5561G>A	c.(5560-5562)gGt>gAt	p.G1854D		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1854					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						TCCTTCATAGGTGCTTTGATC	0.323																																																	0								ENSG00000138246						65.0	63.0	64.0					3																	132235548		2203	4300	6503	DNAJC13	SO:0001630	splice_region_variant	0			-	HGNC	AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"""Heat shock proteins / DNAJ (HSP40)"""	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.5561-1G>A	3.37:g.132235548G>A		Somatic	0	41	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	28	9.68	Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_DnaJ_domain,superfamily_ARM-type_fold,superfamily_GYF,smart_DnaJ_domain,pfscan_DnaJ_domain	p.G1854D	ENST00000260818.6	37	c.5561	CCDS33857.1	3	.	.	.	.	.	.	.	.	.	.	G	25.2	4.608677	0.87258	.	.	ENSG00000138246	ENST00000260818;ENST00000538066	T	0.55413	0.52	5.71	5.71	0.89125	Armadillo-like helical (1);Armadillo-type fold (1);	0.059006	0.64402	D	0.000002	T	0.77955	0.4208	M	0.86502	2.82	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79771	-0.1663	9	.	.	.	.	19.8594	0.96778	0.0:0.0:1.0:0.0	.	1854	O75165	DJC13_HUMAN	D	1854;501	ENSP00000260818:G1854D	.	G	+	2	0	DNAJC13	133718238	1.000000	0.71417	1.000000	0.80357	0.653000	0.38743	9.449000	0.97603	2.691000	0.91804	0.650000	0.86243	GGT	-	superfamily_ARM-type_fold		0.323	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC13	protein_coding	OTTHUMT00000356807.2	G	NM_015268	-	Missense_Mutation	132235548	+1	no_errors	ENST00000260818	ensembl	human	known	74_37	missense	SNP	1.000	A
PLD1	5337	genome.wustl.edu	37	3	171455451	171455452	+	Splice_Site	INS	-	-	A	rs545683379|rs71178233		TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr3:171455451_171455452insA	ENST00000351298.4	-	3	287		c.e3-2		PLD1_ENST00000342215.6_Splice_Site|PLD1_ENST00000340989.4_Splice_Site|PLD1_ENST00000356327.5_Splice_Site	NM_002662.4	NP_002653.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific						chemotaxis (GO:0006935)|defense response to Gram-positive bacterium (GO:0050830)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	GGATATACACTAAAAAAAAAAG	0.327																																					NSCLC(149;2174 3517 34058)												0								ENSG00000075651																																			PLD1	SO:0001630	splice_region_variant	0				HGNC	U38545	CCDS3216.1, CCDS46957.1	3q26	2013-01-10	2006-02-17		ENSG00000075651	ENSG00000075651	3.1.4.4	"""Pleckstrin homology (PH) domain containing"""	9067	protein-coding gene	gene with protein product	"""choline phosphatase 1"""	602382				9858822, 8530346	Standard	NM_002662		Approved		uc003fhs.3	Q13393	OTTHUMG00000156947	ENST00000351298.4:c.161-2->T	3.37:g.171455461_171455461dupA		Somatic	0	35	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	25	13.79		Splice_Site	INS	NA	NA	NA	NA	NA	NA	-	e2-2	ENST00000351298.4	37	c.161-3_161-2	CCDS3216.1	3																																																																																			-	-		0.327	PLD1-001	KNOWN	basic|CCDS	protein_coding	PLD1	protein_coding	OTTHUMT00000346730.2	-	NM_002662		Intron	171455452	-1	no_errors	ENST00000351298	ensembl	human	known	74_37	splice_site_ins	INS	0.999:0.901	A
PAQR9	344838	genome.wustl.edu	37	3	142681480	142681480	+	Silent	SNP	G	G	A	rs373178792		TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr3:142681480G>A	ENST00000340634.3	-	1	698	c.699C>T	c.(697-699)acC>acT	p.T233T	RP11-372E1.6_ENST00000478823.1_RNA|RP11-372E1.6_ENST00000595248.1_RNA|RP11-372E1.6_ENST00000594095.1_RNA|RP11-372E1.6_ENST00000608349.1_RNA|RP11-372E1.6_ENST00000598139.1_RNA|RP11-372E1.6_ENST00000595774.1_RNA|RP11-372E1.6_ENST00000593321.1_RNA|RP11-372E1.6_ENST00000598787.1_RNA|RP11-372E1.6_ENST00000493825.1_RNA|RP11-372E1.6_ENST00000608686.1_RNA|RP11-372E1.6_ENST00000607937.1_RNA|RP11-372E1.6_ENST00000497652.1_RNA	NM_198504.2	NP_940906.1	Q6ZVX9	PAQR9_HUMAN	progestin and adipoQ receptor family member IX	233						integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			endometrium(2)|large_intestine(7)|lung(12)|prostate(1)	22						TACACCAGTCGGTACGGCTCT	0.652																																																	0								ENSG00000188582						61.0	57.0	58.0					3																	142681480		2203	4300	6503	PAQR9	SO:0001819	synonymous_variant	0			-	HGNC	AY424287	CCDS3128.1	3q23	2008-05-02			ENSG00000188582	ENSG00000188582			30131	protein-coding gene	gene with protein product		614580					Standard	NM_198504		Approved	FLJ41938	uc003evg.3	Q6ZVX9	OTTHUMG00000159313	ENST00000340634.3:c.699C>T	3.37:g.142681480G>A		Somatic	0	31	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	17	39.29	Q147T6	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_HlyIII-related	p.T233	ENST00000340634.3	37	c.699	CCDS3128.1	3																																																																																			-	pfam_HlyIII-related		0.652	PAQR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAQR9	protein_coding	OTTHUMT00000354538.1	G	NM_198504	-		142681480	-1	no_errors	ENST00000340634	ensembl	human	known	74_37	silent	SNP	0.168	A
ZFHX4	79776	genome.wustl.edu	37	8	77764838	77764838	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr8:77764838C>T	ENST00000521891.2	+	10	6129	c.5681C>T	c.(5680-5682)tCc>tTc	p.S1894F	ZFHX4_ENST00000455469.2_Missense_Mutation_p.S1849F|ZFHX4_ENST00000518282.1_Missense_Mutation_p.S1868F|ZFHX4_ENST00000050961.6_Missense_Mutation_p.S1849F	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1849					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.S1894Y(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TTGGAACCATCCATCCCACCA	0.418										HNSCC(33;0.089)																																							1	Substitution - Missense(1)	lung(1)						ENSG00000091656						30.0	27.0	28.0					8																	77764838		1883	4107	5990	ZFHX4	SO:0001583	missense	0			-	HGNC		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.5681C>T	8.37:g.77764838C>T	ENSP00000430497:p.Ser1894Phe	Somatic	0	47	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	24	14.29	G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2	p.S1894F	ENST00000521891.2	37	c.5681	CCDS47878.2	8	.	.	.	.	.	.	.	.	.	.	C	2.533	-0.307965	0.05458	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.52526	0.66;0.71;0.68;0.67	4.71	0.505	0.16953	.	1.099280	0.07161	U	0.850757	T	0.35393	0.0930	L	0.34521	1.04	0.09310	N	1	B;B;B	0.16603	0.01;0.018;0.018	B;B;B	0.17722	0.009;0.019;0.019	T	0.26224	-1.0109	10	0.09843	T	0.71	.	11.875	0.52541	0.0:0.4077:0.5216:0.0706	.	1849;1849;1894	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	F	1894;1894;1849;1849;1868	ENSP00000430497:S1894F;ENSP00000399605:S1849F;ENSP00000050961:S1849F;ENSP00000430848:S1868F	ENSP00000050961:S1849F	S	+	2	0	ZFHX4	77927393	0.003000	0.15002	0.000000	0.03702	0.990000	0.78478	1.188000	0.32102	-0.009000	0.14296	0.632000	0.83419	TCC	-	NULL		0.418	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFHX4	protein_coding	OTTHUMT00000379197.2	C	NM_024721	-		77764838	+1	no_errors	ENST00000521891	ensembl	human	known	74_37	missense	SNP	0.021	T
PMFBP1	83449	genome.wustl.edu	37	16	72166711	72166711	+	Silent	SNP	C	C	A	rs372420846		TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr16:72166711C>A	ENST00000237353.10	-	10	1644	c.1383G>T	c.(1381-1383)ctG>ctT	p.L461L	PMFBP1_ENST00000537465.1_Silent_p.L461L|PMFBP1_ENST00000355636.6_Silent_p.L316L	NM_031293.2	NP_112583.2	Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	461						cytoplasm (GO:0005737)				NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				CCTCAGCCTGCAGGGCCTTGC	0.577																																																	0								ENSG00000118557						148.0	119.0	129.0					16																	72166711		2198	4300	6498	PMFBP1	SO:0001819	synonymous_variant	0			-	HGNC	AF239683	CCDS32483.1	16q23.1	2008-08-04			ENSG00000118557	ENSG00000118557			17728	protein-coding gene	gene with protein product						11468771	Standard	NM_031293		Approved		uc002fcd.3	Q8TBY8	OTTHUMG00000167827	ENST00000237353.10:c.1383G>T	16.37:g.72166711C>A		Somatic	0	54	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	18	40.00	B3KVI9|H7BY07|Q8NA09|Q9BY16|Q9H0H4	Silent	SNP	NA	NA	NA	NA	NA	NA	NULL	p.L461	ENST00000237353.10	37	c.1383	CCDS32483.1	16																																																																																			-	NULL		0.577	PMFBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PMFBP1	protein_coding	OTTHUMT00000396473.2	C	NM_031293	-		72166711	-1	no_errors	ENST00000537465	ensembl	human	known	74_37	silent	SNP	0.017	A
PLEK	5341	genome.wustl.edu	37	2	68592580	68592580	+	Intron	SNP	G	G	T			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr2:68592580G>T	ENST00000234313.7	+	1	221				AC015969.3_ENST00000366218.2_RNA	NM_002664.2	NP_002655.2	P08567	PLEK_HUMAN	pleckstrin						actin cytoskeleton reorganization (GO:0031532)|blood coagulation (GO:0007596)|cell projection organization (GO:0030030)|cortical actin cytoskeleton organization (GO:0030866)|hematopoietic progenitor cell differentiation (GO:0002244)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of calcium-mediated signaling (GO:0050849)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of inositol phosphate biosynthetic process (GO:0010920)|phosphatidylinositol metabolic process (GO:0046488)|phospholipase C-inhibiting G-protein coupled receptor signaling pathway (GO:0030845)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of inositol-polyphosphate 5-phosphatase activity (GO:0010925)|positive regulation of integrin activation (GO:0033625)|positive regulation of platelet activation (GO:0010572)|protein kinase C signaling (GO:0070528)|protein secretion by platelet (GO:0070560)|regulation of cell diameter (GO:0060305)|ruffle organization (GO:0031529)|thrombin receptor signaling pathway (GO:0070493)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|membrane (GO:0016020)|ruffle membrane (GO:0032587)	phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)			autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		GGGGAGACTTGGGTTCAGCTC	0.532																																																	0								ENSG00000203395						82.0	82.0	82.0					2																	68592580		692	1591	2283	AC015969.3	SO:0001627	intron_variant	0			-	Clone_based_vega_gene	X07743	CCDS1887.1	2p13.3	2013-01-10			ENSG00000115956	ENSG00000115956		"""Pleckstrin homology (PH) domain containing"""	9070	protein-coding gene	gene with protein product		173570				2897630, 12054651	Standard	NM_002664		Approved	P47	uc002sen.4	P08567	OTTHUMG00000129562	ENST00000234313.7:c.42+55G>T	2.37:g.68592580G>T		Somatic	0	52	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.70	B2R9E8|Q53SU8|Q6FGM8|Q6FGQ1|Q8WV81	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000234313.7	37	NULL	CCDS1887.1	2																																																																																			-	-		0.532	PLEK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC101927723	protein_coding	OTTHUMT00000251755.1	G	NM_002664	-		68592580	-1	no_errors	ENST00000366218	ensembl	human	known	74_37	rna	SNP	0.001	T
NEBL	10529	genome.wustl.edu	37	10	21459569	21459569	+	Intron	SNP	G	G	T			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr10:21459569G>T	ENST00000417816.2	-	2	518				NEBL_ENST00000464278.1_5'Flank	NM_001173484.1|NM_213569.2	NP_001166955.1|NP_998734.1	O76041	NEBL_HUMAN	nebulette						cardiac muscle thin filament assembly (GO:0071691)	extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|filamin binding (GO:0031005)|structural constituent of muscle (GO:0008307)|tropomyosin binding (GO:0005523)			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GAATATCTGTGGACTTCCCCT	0.423																																																	0								ENSG00000078114																																			NEBL	SO:0001627	intron_variant	0			-	HGNC	Y16241	CCDS7133.1, CCDS7134.1	10p12	2014-09-17			ENSG00000078114	ENSG00000078114			16932	protein-coding gene	gene with protein product		605491				9733644, 10470015	Standard	NM_213569		Approved		uc001iqi.3	O76041	OTTHUMG00000017788	ENST00000417816.2:c.164+1742C>A	10.37:g.21459569G>T		Somatic	0	26	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	28	12.50	B0YJ45|Q2TBD0|Q70I54|Q9UIC4	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000417816.2	37	NULL	CCDS7133.1	10																																																																																			-	-		0.423	NEBL-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NEBL	protein_coding	OTTHUMT00000047112.1	G	NM_006393	-		21459569	-1	no_errors	ENST00000485750	ensembl	human	known	74_37	rna	SNP	0.000	T
ZNF724P	440519	genome.wustl.edu	37	19	23405795	23405795	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr19:23405795C>T	ENST00000418100.1	-	4	1369	c.1252G>A	c.(1252-1254)Gga>Aga	p.G418R				A8MTY0	ZN724_HUMAN	zinc finger protein 724, pseudogene	418					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(1)|lung(2)|ovary(2)	8						GGTTTCTCTCCGGTATGAATT	0.378																																																	0								ENSG00000196081																																			ZNF724P	SO:0001583	missense	0			-	HGNC			19p12	2014-02-14	2010-08-03		ENSG00000196081	ENSG00000196081			32460	pseudogene	pseudogene			"""zinc finger protein 724 pseudogene"", ""zinc finger protein 724 (pseudogene)"""				Standard	NR_045525		Approved		uc021uru.1	A8MTY0	OTTHUMG00000183231	ENST00000418100.1:c.1252G>A	19.37:g.23405795C>T	ENSP00000413411:p.Gly418Arg	Somatic	0	49	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	40	21.57		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	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.G418R	ENST00000418100.1	37	c.1252		19	.	.	.	.	.	.	.	.	.	.	C	12.67	2.008206	0.35415	.	.	ENSG00000196081	ENST00000418100	T	0.01629	4.72	1.09	1.09	0.20402	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02571	0.0078	.	.	.	0.43517	D	0.995786	D	0.76494	0.999	P	0.45037	0.467	T	0.60424	-0.7266	8	0.54805	T	0.06	.	8.9884	0.36008	0.0:1.0:0.0:0.0	.	418	A8MTY0	ZN724_HUMAN	R	418	ENSP00000413411:G418R	ENSP00000413411:G418R	G	-	1	0	ZNF724P	23197635	0.001000	0.12720	0.294000	0.24946	0.284000	0.27059	1.410000	0.34691	0.488000	0.27723	0.491000	0.48974	GGA	-	pfscan_Znf_C2H2		0.378	ZNF724P-001	NOVEL	basic|appris_principal	protein_coding	ZNF724P	protein_coding	OTTHUMT00000465743.1	C		-		23405795	-1	no_errors	ENST00000418100	ensembl	human	novel	74_37	missense	SNP	1.000	T
GLTSCR2	29997	genome.wustl.edu	37	19	48248837	48248837	+	Silent	SNP	C	C	T			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr19:48248837C>T	ENST00000246802.5	+	1	59	c.21C>T	c.(19-21)ggC>ggT	p.G7G	GLTSCR2_ENST00000598681.1_3'UTR	NM_015710.4	NP_056525.2	Q9NZM5	GSCR2_HUMAN	glioma tumor suppressor candidate region gene 2	7						intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	15		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278)		GAGGCAGTGGCGTTGGTGGGA	0.647																																					Colon(58;613 1041 9473 10089 15241)												0								ENSG00000105373						92.0	103.0	99.0					19																	48248837		2203	4300	6503	GLTSCR2	SO:0001819	synonymous_variant	0			-	HGNC	AF182076	CCDS12705.1	19q13.3	2014-01-20				ENSG00000105373			4333	protein-coding gene	gene with protein product		605691				10708517, 16971513, 17657248	Standard	NM_015710		Approved	PICT-1	uc002phm.2	Q9NZM5		ENST00000246802.5:c.21C>T	19.37:g.48248837C>T		Somatic	0	173	0.00		0.5966303490668188	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	40	81	32.79	Q9BTC6|Q9HAX6|Q9NPP1|Q9NPR4|Q9UFI2	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_P60-like,pirsf_Gltscr2	p.G7	ENST00000246802.5	37	c.21	CCDS12705.1	19																																																																																			-	pirsf_Gltscr2		0.647	GLTSCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLTSCR2	protein_coding	OTTHUMT00000464870.1	C	NM_015710	-		48248837	+1	no_errors	ENST00000246802	ensembl	human	known	74_37	silent	SNP	0.000	T
