#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name	i_deletion_substructures	i_domain	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_name_source	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
ASNSD1	54529	genome.wustl.edu	37	2	190531908	190531910	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-DS-A3LQ-01A-21D-A21Q-09	TCGA-DS-A3LQ-10A-01D-A21Q-09	TCT	TCT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2b50946-df37-45fb-b26c-236b264da1fc	be684ac0-dfad-48b1-a133-e2e5873099b4	g.chr2:190531908_190531910delTCT	ENST00000260952.4	+	4	1463_1465	c.1050_1052delTCT	c.(1048-1053)gatctt>gat	p.L352del	ASNSD1_ENST00000607062.1_Intron	NM_019048.2	NP_061921	Q9NWL6	ASND1_HUMAN	asparagine synthetase domain containing 1	352	Asparagine synthetase.				asparagine biosynthetic process (GO:0006529)|glutamine metabolic process (GO:0006541)		asparagine synthase (glutamine-hydrolyzing) activity (GO:0004066)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)			AACCAATTGATCTTCTTAATGTA	0.369																																																	0																																										SO:0001651	inframe_deletion	54529			AY116969	CCDS2300.1	2q32.2	2012-09-20			ENSG00000138381	ENSG00000138381			24910	protein-coding gene	gene with protein product							Standard	NM_019048		Approved	NS3TP1, FLJ20752, NBLA00058	uc002uqt.3	Q9NWL6	OTTHUMG00000132665	ENST00000260952.4:c.1050_1052delTCT	2.37:g.190531911_190531913delTCT	ENSP00000260952:p.Leu352del	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DPH6|Q3LIC3|Q4ZG45	In_Frame_Del	DEL	pfam_Asn_synthase	p.L352in_frame_del	ENST00000260952.4	37	c.1050_1052	CCDS2300.1	2																																																																																			ASNSD1	-	pfam_Asn_synthase		0.369	ASNSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASNSD1	HGNC	protein_coding	OTTHUMT00000255919.3	TCT	NM_019048		190531910	+1	no_errors	ENST00000260952	ensembl	human	known	70_37	in_frame_del	DEL	1.000:1.000:1.000	-
ATP13A5	344905	genome.wustl.edu	37	3	193096463	193096463	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DS-A3LQ-01A-21D-A21Q-09	TCGA-DS-A3LQ-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2b50946-df37-45fb-b26c-236b264da1fc	be684ac0-dfad-48b1-a133-e2e5873099b4	g.chr3:193096463C>A	ENST00000342358.4	-	1	169	c.52G>T	c.(52-54)Gag>Tag	p.E18*		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	18						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		AGTTCATCCTCCTCTCCCTGG	0.468																																																	0													174.0	160.0	165.0					3																	193096463		2203	4300	6503	SO:0001587	stop_gained	344905			AK122613	CCDS33914.1	3q29	2010-04-20			ENSG00000187527	ENSG00000187527		"""ATPases / P-type"""	31789	protein-coding gene	gene with protein product							Standard	NM_198505		Approved	FLJ16025	uc011bsq.2	Q4VNC0	OTTHUMG00000156101	ENST00000342358.4:c.52G>T	3.37:g.193096463C>A	ENSP00000341942:p.Glu18*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6UWS4|Q6ZWL0	Nonsense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_unknown-pump-sp,tigrfam_ATPase_P-typ_ion-transptr	p.E18*	ENST00000342358.4	37	c.52	CCDS33914.1	3	.	.	.	.	.	.	.	.	.	.	C	38	7.089078	0.98055	.	.	ENSG00000187527	ENST00000342358;ENST00000446087	.	.	.	4.94	4.94	0.65067	.	0.000000	0.56097	D	0.000028	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-11.1331	14.3701	0.66833	0.0:1.0:0.0:0.0	.	.	.	.	X	18	.	ENSP00000341942:E18X	E	-	1	0	ATP13A5	194579157	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.652000	0.54439	2.678000	0.91216	0.655000	0.94253	GAG	ATP13A5	-	NULL		0.468	ATP13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP13A5	HGNC	protein_coding	OTTHUMT00000343012.1	C	NM_198505		193096463	-1	no_errors	ENST00000342358	ensembl	human	known	70_37	nonsense	SNP	1.000	A
BRD3	8019	genome.wustl.edu	37	9	136913301	136913301	+	Silent	SNP	G	G	A	rs372612317		TCGA-DS-A3LQ-01A-21D-A21Q-09	TCGA-DS-A3LQ-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2b50946-df37-45fb-b26c-236b264da1fc	be684ac0-dfad-48b1-a133-e2e5873099b4	g.chr9:136913301G>A	ENST00000303407.7	-	6	1175	c.990C>T	c.(988-990)taC>taT	p.Y330Y	BRD3_ENST00000371834.2_Silent_p.Y330Y|BRD3_ENST00000357885.2_Silent_p.Y330Y	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3	330	Bromo 2. {ECO:0000255|PROSITE- ProRule:PRU00035}.				chromatin modification (GO:0016568)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|lysine-acetylated histone binding (GO:0070577)		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		AGGGCCAGGCGTAGGCCGCGT	0.607			T	C15orf55	lethal midline carcinoma of young people																																			Dom	yes		9	9q34	8019	bromodomain containing 3		E	0								G		0,4404		0,0,2202	89.0	58.0	68.0		990	2.0	1.0	9		68	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	BRD3	NM_007371.3		0,1,6500	AA,AG,GG		0.0116,0.0,0.0077		330/727	136913301	1,13001	2202	4299	6501	SO:0001819	synonymous_variant	8019				CCDS6980.1	9q34	2010-12-23	2002-01-14		ENSG00000169925	ENSG00000169925			1104	protein-coding gene	gene with protein product	"""RING3-like"""	601541	"""bromodomain-containing 3"""			7584044, 8781126	Standard	NM_007371		Approved	RING3L, ORFX, KIAA0043	uc004cew.3	Q15059	OTTHUMG00000021004	ENST00000303407.7:c.990C>T	9.37:g.136913301G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B1APD9|Q4G5Y3|Q5T1R7|Q8N5M3|Q92645	Silent	SNP	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.Y330	ENST00000303407.7	37	c.990	CCDS6980.1	9																																																																																			BRD3	-	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain		0.607	BRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRD3	HGNC	protein_coding	OTTHUMT00000055390.4	G	NM_007371		136913301	-1	no_errors	ENST00000303407	ensembl	human	known	70_37	silent	SNP	1.000	A
BTBD1	53339	genome.wustl.edu	37	15	83718834	83718834	+	Missense_Mutation	SNP	T	T	C			TCGA-DS-A3LQ-01A-21D-A21Q-09	TCGA-DS-A3LQ-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2b50946-df37-45fb-b26c-236b264da1fc	be684ac0-dfad-48b1-a133-e2e5873099b4	g.chr15:83718834T>C	ENST00000261721.4	-	3	857	c.655A>G	c.(655-657)Att>Gtt	p.I219V	RP11-382A20.6_ENST00000568441.1_RNA|RP11-382A20.7_ENST00000570202.1_RNA|RP11-382A20.5_ENST00000566841.1_RNA|BTBD1_ENST00000379403.2_Missense_Mutation_p.I219V	NM_001011885.1|NM_025238.3	NP_001011885.1|NP_079514.1	Q9H0C5	BTBD1_HUMAN	BTB (POZ) domain containing 1	219					protein ubiquitination (GO:0016567)|regulation of protein binding (GO:0043393)	cytoplasmic mRNA processing body (GO:0000932)|protein complex (GO:0043234)				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	10				all cancers(203;0.000186)		CCTATATCAATATCAGTAAAC	0.353																																																	0													125.0	116.0	119.0					15																	83718834		2202	4300	6502	SO:0001583	missense	53339			AF355402	CCDS10322.1, CCDS32313.1	15q24	2013-01-08			ENSG00000064726	ENSG00000064726		"""BTB/POZ domain containing"""	1120	protein-coding gene	gene with protein product		608530					Standard	XM_006720573		Approved		uc002bjn.3	Q9H0C5	OTTHUMG00000147364	ENST00000261721.4:c.655A>G	15.37:g.83718834T>C	ENSP00000261721:p.Ile219Val	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NMI8|Q9BX71|Q9NWN4	Missense_Mutation	SNP	pfam_PHR,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like	p.I219V	ENST00000261721.4	37	c.655	CCDS10322.1	15	.	.	.	.	.	.	.	.	.	.	T	15.05	2.718749	0.48622	.	.	ENSG00000064726	ENST00000261721;ENST00000379403	T;T	0.68624	-0.34;-0.34	5.51	5.51	0.81932	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	T	0.60130	0.2245	L	0.29908	0.895	0.58432	D	0.999996	B;B	0.26445	0.149;0.039	B;B	0.33960	0.173;0.107	T	0.58847	-0.7564	10	0.44086	T	0.13	-28.6022	15.9211	0.79575	0.0:0.0:0.0:1.0	.	219;219	A6NMI8;Q9H0C5	.;BTBD1_HUMAN	V	219	ENSP00000261721:I219V;ENSP00000368713:I219V	ENSP00000261721:I219V	I	-	1	0	BTBD1	81509838	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	4.837000	0.62796	2.210000	0.71456	0.533000	0.62120	ATT	BTBD1	-	pfam_BACK,smart_BACK		0.353	BTBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTBD1	HGNC	protein_coding	OTTHUMT00000304008.1	T			83718834	-1	no_errors	ENST00000261721	ensembl	human	known	70_37	missense	SNP	1.000	C
CILP2	148113	genome.wustl.edu	37	19	19654947	19654947	+	Silent	SNP	C	C	T			TCGA-DS-A3LQ-01A-21D-A21Q-09	TCGA-DS-A3LQ-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2b50946-df37-45fb-b26c-236b264da1fc	be684ac0-dfad-48b1-a133-e2e5873099b4	g.chr19:19654947C>T	ENST00000291495.5	+	8	1678	c.1593C>T	c.(1591-1593)ttC>ttT	p.F531F	CILP2_ENST00000586018.1_Silent_p.F537F	NM_153221.2	NP_694953.2	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	531						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						GCGGTGAGTTCATGGACGCTG	0.602																																																	0													34.0	37.0	36.0					19																	19654947		2203	4300	6503	SO:0001819	synonymous_variant	148113			AF542080	CCDS12405.1	19p13.11	2013-01-14				ENSG00000160161		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	24213	protein-coding gene	gene with protein product		612419				12477932	Standard	NM_153221		Approved	MGC45771	uc002nmv.4	Q8IUL8		ENST00000291495.5:c.1593C>T	19.37:g.19654947C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6NV88|Q8N4A6|Q8WV21	Silent	SNP	pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,superfamily_Thrombospondin_1_rpt,superfamily_CarboxyPept-like_regulatory,superfamily_Carb-bd-like_fold,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like	p.F531	ENST00000291495.5	37	c.1593	CCDS12405.1	19																																																																																			CILP2	-	superfamily_Carb-bd-like_fold		0.602	CILP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	CILP2	HGNC	protein_coding	OTTHUMT00000459738.3	C	NM_153221		19654947	+1	no_errors	ENST00000291495	ensembl	human	known	70_37	silent	SNP	0.988	T
CALM3	808	genome.wustl.edu	37	19	47112431	47112431	+	3'UTR	SNP	G	G	A	rs2229577	byFrequency	TCGA-DS-A3LQ-01A-21D-A21Q-09	TCGA-DS-A3LQ-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2b50946-df37-45fb-b26c-236b264da1fc	be684ac0-dfad-48b1-a133-e2e5873099b4	g.chr19:47112431G>A	ENST00000291295.9	+	0	670				CALM3_ENST00000598871.1_3'UTR|CALM3_ENST00000597743.1_3'UTR|CALM3_ENST00000391918.2_3'UTR|CALM3_ENST00000596362.1_3'UTR|CALM3_ENST00000477244.1_3'UTR|CALM3_ENST00000594523.1_3'UTR|CALM3_ENST00000599839.1_3'UTR|CTB-12A17.3_ENST00000597609.1_RNA	NM_005184.2	NP_005175.2	P62158	CALM_HUMAN	calmodulin 3 (phosphorylase kinase, delta)						activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|detection of calcium ion (GO:0005513)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nitric oxide metabolic process (GO:0046209)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cyclic nucleotide metabolic process (GO:0030801)|positive regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051343)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of cytokinesis (GO:0032465)|regulation of heart rate (GO:0002027)|regulation of high voltage-gated calcium channel activity (GO:1901841)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|response to corticosterone (GO:0051412)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)|synaptic transmission (GO:0007268)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcomere (GO:0030017)|spindle microtubule (GO:0005876)|spindle pole (GO:0000922)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|N-terminal myristoylation domain binding (GO:0031997)|nitric-oxide synthase regulator activity (GO:0030235)|phospholipase binding (GO:0043274)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|protein phosphatase activator activity (GO:0072542)|protein serine/threonine kinase activator activity (GO:0043539)|thioesterase binding (GO:0031996)|titin binding (GO:0031432)			breast(1)|cervix(2)|endometrium(1)|lung(1)|ovary(1)	6		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000683)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0341)	Aprindine(DB01429)|Bepridil(DB01244)|Chlorpromazine(DB00477)|Cinchocaine(DB00527)|Felodipine(DB01023)|Flunarizine(DB04841)|Fluphenazine(DB00623)|Isoflurane(DB00753)|Loperamide(DB00836)|Melatonin(DB01065)|Nicardipine(DB00622)|Nifedipine(DB01115)|Perphenazine(DB00850)|Phenoxybenzamine(DB00925)|Pimozide(DB01100)|Promethazine(DB01069)|Trifluoperazine(DB00831)	GGCAGCTGGCGATGCCCGTTC	0.567																																																	0													51.0	47.0	48.0					19																	47112431		2203	4300	6503	SO:0001624	3_prime_UTR_variant	808				CCDS33061.1	19q13.2-q13.3	2013-02-25			ENSG00000160014	ENSG00000160014		"""EF-hand domain containing"", ""Endogenous ligands"""	1449	protein-coding gene	gene with protein product	"""prepro-calmodulin 3"""	114183					Standard	NM_005184		Approved	PHKD	uc002pew.3	P62158	OTTHUMG00000133517	ENST00000291295.9:c.*21G>A	19.37:g.47112431G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	P02593|P70667|P99014|Q13942|Q53S29|Q61379|Q61380|Q96HK3	RNA	SNP	-	NULL	ENST00000291295.9	37	NULL	CCDS33061.1	19																																																																																			CALM3	-	-		0.567	CALM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CALM3	HGNC	protein_coding	OTTHUMT00000257483.2	G			47112431	+1	no_errors	ENST00000477244	ensembl	human	known	70_37	rna	SNP	0.793	A
CSMD1	64478	genome.wustl.edu	37	8	3047499	3047499	+	Missense_Mutation	SNP	G	G	A			TCGA-DS-A3LQ-01A-21D-A21Q-09	TCGA-DS-A3LQ-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2b50946-df37-45fb-b26c-236b264da1fc	be684ac0-dfad-48b1-a133-e2e5873099b4	g.chr8:3047499G>A	ENST00000520002.1	-	35	5891	c.5336C>T	c.(5335-5337)gCg>gTg	p.A1779V	CSMD1_ENST00000602723.1_Missense_Mutation_p.A1779V|CSMD1_ENST00000400186.3_Missense_Mutation_p.A1779V|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000542608.1_Missense_Mutation_p.A1778V|CSMD1_ENST00000602557.1_Missense_Mutation_p.A1779V|CSMD1_ENST00000537824.1_Missense_Mutation_p.A1778V|CSMD1_ENST00000539096.1_Missense_Mutation_p.A1778V			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1779	Sushi 10. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GCAGTGGAGCGCCGTGGAACC	0.617																																																	0													49.0	55.0	53.0					8																	3047499		2001	4156	6157	SO:0001583	missense	64478					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.5336C>T	8.37:g.3047499G>A	ENSP00000430733:p.Ala1779Val	Somatic		WXS	Illumina HiSeq	Phase_IV	Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.A1779V	ENST00000520002.1	37	c.5336		8	.	.	.	.	.	.	.	.	.	.	G	22.7	4.321648	0.81580	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	T;T;T;T;T	0.62364	0.03;0.03;0.03;0.03;0.03	5.34	5.34	0.76211	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	T	0.71031	0.3292	L	0.33485	1.01	0.80722	D	1	D;P;D	0.89917	1.0;0.895;0.998	D;P;D	0.85130	0.997;0.853;0.928	T	0.66069	-0.6015	10	0.25751	T	0.34	.	19.4214	0.94723	0.0:0.0:1.0:0.0	.	1779;1779;1779	E5RIG2;Q96PZ7;Q96PZ7-4	.;CSMD1_HUMAN;.	V	1779;1779;1641;1778;1778;1778	ENSP00000383047:A1779V;ENSP00000430733:A1779V;ENSP00000441462:A1778V;ENSP00000446243:A1778V;ENSP00000441675:A1778V	ENSP00000320445:A1641V	A	-	2	0	CSMD1	3034906	1.000000	0.71417	0.245000	0.24217	0.632000	0.37999	9.538000	0.98072	2.653000	0.90120	0.544000	0.68410	GCG	CSMD1	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.617	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	HGNC	protein_coding	OTTHUMT00000374500.2	G	NM_033225		3047499	-1	no_errors	ENST00000520002	ensembl	human	known	70_37	missense	SNP	1.000	A
CTIF	9811	genome.wustl.edu	37	18	46066203	46066203	+	Intron	SNP	G	G	T			TCGA-DS-A3LQ-01A-21D-A21Q-09	TCGA-DS-A3LQ-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2b50946-df37-45fb-b26c-236b264da1fc	be684ac0-dfad-48b1-a133-e2e5873099b4	g.chr18:46066203G>T	ENST00000256413.3	+	1	267				CTIF_ENST00000382998.4_Splice_Site	NM_014772.2	NP_055587.1	O43310	CTIF_HUMAN	CBP80/20-dependent translation initiation factor						nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational initiation (GO:0006446)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	31						CTCCGCCGAGGTAGGGAGCCC	0.647																																																	0																																										SO:0001627	intron_variant	9811			AB007887	CCDS11935.1, CCDS45864.1	18q21.1	2011-01-20	2011-01-20	2011-01-20	ENSG00000134030	ENSG00000134030			23925	protein-coding gene	gene with protein product		613178	"""KIAA0427"""	KIAA0427		9455477, 19648179	Standard	NM_014772		Approved		uc002ldd.3	O43310	OTTHUMG00000132656	ENST00000256413.3:c.-29+520G>T	18.37:g.46066203G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KTR8|Q8IVD5	Splice_Site	SNP	-	e0+1	ENST00000256413.3	37	c.1+1	CCDS11935.1	18																																																																																			CTIF	-	-		0.647	CTIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTIF	HGNC	protein_coding	OTTHUMT00000255907.1	G	NM_014772		46066203	+1	no_errors	ENST00000382998	ensembl	human	known	70_37	splice_site	SNP	0.999	T
PBDC1	51260	genome.wustl.edu	37	X	75397718	75397718	+	Missense_Mutation	SNP	A	A	G			TCGA-DS-A3LQ-01A-21D-A21Q-09	TCGA-DS-A3LQ-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2b50946-df37-45fb-b26c-236b264da1fc	be684ac0-dfad-48b1-a133-e2e5873099b4	g.chrX:75397718A>G	ENST00000373358.3	+	6	880	c.677A>G	c.(676-678)aAc>aGc	p.N226S	PBDC1_ENST00000373357.3_Missense_Mutation_p.T189A	NM_016500.3	NP_057584.2	Q9BVG4	PBDC1_HUMAN	polysaccharide biosynthesis domain containing 1	226																	aaagaaATCAACAAAAGTGGT	0.408																																																	0													114.0	109.0	110.0					X																	75397718		2203	4300	6503	SO:0001583	missense	51260			BC001220	CCDS14432.1, CCDS75995.1	Xq13.2	2012-11-28	2012-11-28	2012-11-28	ENSG00000102390	ENSG00000102390			28790	protein-coding gene	gene with protein product			"""chromosome X open reading frame 26"""	CXorf26		11042152	Standard	NM_016500		Approved	MGC874	uc004ecl.1	Q9BVG4	OTTHUMG00000021876	ENST00000373358.3:c.677A>G	X.37:g.75397718A>G	ENSP00000362456:p.Asn226Ser	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Put_polysacc_synth	p.N226S	ENST00000373358.3	37	c.677	CCDS14432.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	0.245|0.245	-1.010559|-1.010559	0.02095|0.02095	.|.	.|.	ENSG00000102390|ENSG00000102390	ENST00000373358|ENST00000373357	.|.	.|.	.|.	3.76|3.76	-1.83|-1.83	0.07833|0.07833	.|.	1.604530|.	0.03093|.	N|.	0.160027|.	T|T	0.12135|0.12135	0.0295|0.0295	N|N	0.04508|0.04508	-0.205|-0.205	0.09310|0.09310	N|N	1|1	B|.	0.14438|.	0.01|.	B|.	0.04013|.	0.001|.	T|T	0.22382|0.22382	-1.0218|-1.0218	9|6	0.18276|0.72032	T|D	0.48|0.01	-2.8237|-2.8237	2.3525|2.3525	0.04287|0.04287	0.3896:0.0:0.2321:0.3784|0.3896:0.0:0.2321:0.3784	.|.	226|.	Q9BVG4|.	CX026_HUMAN|.	S|A	226|189	.|.	ENSP00000362456:N226S|ENSP00000362455:T189A	N|T	+|+	2|1	0|0	CXorf26|CXorf26	75314121|75314121	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.246000|0.246000	0.25737|0.25737	-0.176000|-0.176000	0.09811|0.09811	-0.452000|-0.452000	0.07087|0.07087	-0.365000|-0.365000	0.07479|0.07479	AAC|ACA	CXorf26	-	NULL		0.408	PBDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXorf26	HGNC	protein_coding	OTTHUMT00000057294.1	A	NM_016500		75397718	+1	no_errors	ENST00000373358	ensembl	human	known	70_37	missense	SNP	0.000	G
BRINP1	1620	genome.wustl.edu	37	9	122011392	122011392	+	Silent	SNP	G	G	A			TCGA-DS-A3LQ-01A-21D-A21Q-09	TCGA-DS-A3LQ-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2b50946-df37-45fb-b26c-236b264da1fc	be684ac0-dfad-48b1-a133-e2e5873099b4	g.chr9:122011392G>A	ENST00000265922.3	-	3	716	c.255C>T	c.(253-255)atC>atT	p.I85I	BRINP1_ENST00000373964.2_Silent_p.I85I	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	85	MACPF.				cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell cycle (GO:0045786)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	cytoplasm (GO:0005737)											CTCTCCTCTCGATGGCTGTGT	0.552																																																	0													102.0	89.0	94.0					9																	122011392		2203	4300	6503	SO:0001819	synonymous_variant	0			AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725			2687	protein-coding gene	gene with protein product		602865	"""deleted in bladder cancer chromosome region candidate 1"", ""deleted in bladder cancer 1"""	DBCCR1, DBC1		9175739, 10444335, 15193422	Standard	NM_014618		Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.255C>T	9.37:g.122011392G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6IPV6|Q6P1A0|Q8WU22	Silent	SNP	pfam_MACPF,smart_MACPF	p.I85	ENST00000265922.3	37	c.255	CCDS6822.1	9																																																																																			DBC1	-	pfam_MACPF,smart_MACPF		0.552	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DBC1	HGNC	protein_coding	OTTHUMT00000055440.2	G	NM_014618		122011392	-1	no_errors	ENST00000265922	ensembl	human	known	70_37	silent	SNP	0.905	A
DLG1	1739	genome.wustl.edu	37	3	196876613	196876613	+	Splice_Site	SNP	C	C	T			TCGA-DS-A3LQ-01A-21D-A21Q-09	TCGA-DS-A3LQ-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2b50946-df37-45fb-b26c-236b264da1fc	be684ac0-dfad-48b1-a133-e2e5873099b4	g.chr3:196876613C>T	ENST00000419354.1	-	7	923		c.e7+1		DLG1_ENST00000314062.3_Intron|DLG1_ENST00000357674.4_Splice_Site|DLG1_ENST00000422288.1_Intron|DLG1_ENST00000346964.2_Splice_Site|DLG1_ENST00000443183.1_Splice_Site|DLG1_ENST00000448528.2_Splice_Site|DLG1_ENST00000450955.1_Splice_Site|DLG1_ENST00000392382.2_Splice_Site|DLG1_ENST00000452595.1_Splice_Site			Q12959	DLG1_HUMAN	discs, large homolog 1 (Drosophila)						actin filament organization (GO:0007015)|activation of protein kinase activity (GO:0032147)|amyloid precursor protein metabolic process (GO:0042982)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|cortical actin cytoskeleton organization (GO:0030866)|dephosphorylation (GO:0016311)|embryonic skeletal system morphogenesis (GO:0048704)|endothelial cell proliferation (GO:0001935)|establishment or maintenance of cell polarity (GO:0007163)|hard palate development (GO:0060022)|immunological synapse formation (GO:0001771)|lens development in camera-type eye (GO:0002088)|membrane raft organization (GO:0031579)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell proliferation (GO:0042130)|nucleotide phosphorylation (GO:0046939)|peristalsis (GO:0030432)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of potassium ion transport (GO:0043268)|protein localization to plasma membrane (GO:0072659)|regulation of membrane potential (GO:0042391)|regulation of myelination (GO:0031641)|regulation of sodium ion transmembrane transport (GO:1902305)|reproductive structure development (GO:0048608)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|synaptic transmission (GO:0007268)|T cell activation (GO:0042110)|T cell cytokine production (GO:0002369)|tight junction assembly (GO:0070830)|viral process (GO:0016032)	basal lamina (GO:0005605)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell projection membrane (GO:0031253)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|immunological synapse (GO:0001772)|intercalated disc (GO:0014704)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|membrane raft (GO:0045121)|microtubule (GO:0005874)|MPP7-DLG1-LIN7 complex (GO:0097025)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	cytoskeletal protein binding (GO:0008092)|guanylate kinase activity (GO:0004385)|ion channel binding (GO:0044325)|L27 domain binding (GO:0097016)|mitogen-activated protein kinase kinase binding (GO:0031434)|phosphatase binding (GO:0019902)|phosphoprotein phosphatase activity (GO:0004721)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)	p.?(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		ATGGAACTTACGTAAGTTGGT	0.363																																																	1	Unknown(1)	kidney(1)											259.0	249.0	252.0					3																	196876613		2203	4300	6503	SO:0001630	splice_region_variant	1739			U13897	CCDS3327.1, CCDS43194.1, CCDS56300.1, CCDS56301.1, CCDS75072.1	3q29	2008-12-15	2001-11-28		ENSG00000075711	ENSG00000075711			2900	protein-coding gene	gene with protein product	"""discs large homolog 1"", ""presynaptic protein SAP97"", ""synapse-associated protein 97"""	601014	"""discs, large (Drosophila) homolog 1"""			7937897, 8825652	Standard	NM_004087		Approved	SAP97, SAP-97, hdlg, DLGH1, dJ1061C18.1.1	uc003fxn.4	Q12959	OTTHUMG00000047972	ENST00000419354.1:c.636+1G>A	3.37:g.196876613C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A5YKK7|B4DGU1|B4DGZ8|B7ZMM0|B9EIQ5|D3DXB8|D3DXB9|E7EWL7|E9PG21|Q12958	Splice_Site	SNP	-	e6+1	ENST00000419354.1	37	c.636+1	CCDS43194.1	3	.	.	.	.	.	.	.	.	.	.	C	25.4	4.632818	0.87660	.	.	ENSG00000075711	ENST00000346964;ENST00000359922;ENST00000357674;ENST00000381807;ENST00000419354;ENST00000452595;ENST00000448528;ENST00000443183;ENST00000392382;ENST00000450955;ENST00000447466	.	.	.	5.74	5.74	0.90152	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4783	0.90800	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DLG1	198361010	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	7.158000	0.77470	2.707000	0.92482	0.557000	0.71058	.	DLG1	-	-		0.363	DLG1-008	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	DLG1	HGNC	protein_coding	OTTHUMT00000258170.2	C	NM_004087	Intron	196876613	-1	no_errors	ENST00000346964	ensembl	human	known	70_37	splice_site	SNP	1.000	T
DNAH11	8701	genome.wustl.edu	37	7	21742379	21742379	+	Missense_Mutation	SNP	G	G	A			TCGA-DS-A3LQ-01A-21D-A21Q-09	TCGA-DS-A3LQ-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2b50946-df37-45fb-b26c-236b264da1fc	be684ac0-dfad-48b1-a133-e2e5873099b4	g.chr7:21742379G>A	ENST00000409508.3	+	37	6263	c.6232G>A	c.(6232-6234)Gga>Aga	p.G2078R	DNAH11_ENST00000328843.6_Missense_Mutation_p.G2085R	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2085	AAA 1. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GGTTGTGGCTGGATCTCTGAA	0.403									Kartagener syndrome																																								0													113.0	107.0	109.0					7																	21742379		1913	4143	6056	SO:0001583	missense	8701	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.6232G>A	7.37:g.21742379G>A	ENSP00000475939:p.Gly2078Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9UJ82	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.G2085R	ENST00000409508.3	37	c.6253		7	.	.	.	.	.	.	.	.	.	.	G	32	5.140530	0.94560	.	.	ENSG00000105877	ENST00000328843	T	0.17528	2.27	5.11	5.11	0.69529	.	0.163677	0.53938	D	0.000053	T	0.46171	0.1379	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.48843	-0.8999	9	0.87932	D	0	.	18.8973	0.92429	0.0:0.0:1.0:0.0	.	2085	Q96DT5	DYH11_HUMAN	R	2085	ENSP00000330671:G2085R	ENSP00000330671:G2085R	G	+	1	0	DNAH11	21708904	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.869000	0.99810	2.547000	0.85894	0.655000	0.94253	GGA	DNAH11	-	NULL		0.403	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	DNAH11	HGNC	protein_coding	OTTHUMT00000326582.6	G	NM_003777		21742379	+1	no_errors	ENST00000328843	ensembl	human	known	70_37	missense	SNP	1.000	A
LOC101926911	101926911	genome.wustl.edu	37	15	91578166	91578166	+	RNA	SNP	C	C	T			TCGA-DS-A3LQ-01A-21D-A21Q-09	TCGA-DS-A3LQ-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2b50946-df37-45fb-b26c-236b264da1fc	be684ac0-dfad-48b1-a133-e2e5873099b4	g.chr15:91578166C>T	ENST00000557804.1	+	0	484																											AACGATCAAGCGACCTCTCCA	0.592																																																	0																																												0																															15.37:g.91578166C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000557804.1	37	NULL		15																																																																																			AC068831.10	-	-		0.592	AC068831.10-004	KNOWN	basic	antisense	ENSG00000214432	Clone_based_vega_gene	antisense	OTTHUMT00000418639.1	C			91578166	+1	no_errors	ENST00000557804	ensembl	human	known	70_37	rna	SNP	0.000	T
FAM178B	51252	genome.wustl.edu	37	2	97637863	97637863	+	Silent	SNP	C	C	T			TCGA-DS-A3LQ-01A-21D-A21Q-09	TCGA-DS-A3LQ-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2b50946-df37-45fb-b26c-236b264da1fc	be684ac0-dfad-48b1-a133-e2e5873099b4	g.chr2:97637863C>T	ENST00000417561.3	-	7	782	c.783G>A	c.(781-783)ccG>ccA	p.P261P	FAM178B_ENST00000327896.3_Silent_p.P81P|FAM178B_ENST00000490605.2_Silent_p.P113P			Q8IXR5	F178B_HUMAN	family with sequence similarity 178, member B	261										large_intestine(1)|ovary(1)	2						ATTCCACGGGCGGGGGGCTCC	0.692																																																	0													4.0	6.0	5.0					2																	97637863		672	1556	2228	SO:0001819	synonymous_variant	51252			AF151068, BC039488	CCDS33252.1, CCDS46366.1, CCDS46366.2	2q11.2	2008-08-08			ENSG00000168754	ENSG00000168754			28036	protein-coding gene	gene with protein product						11042152	Standard	NM_001122646		Approved	LOC51252	uc002sxl.4	Q8IXR5	OTTHUMG00000155257	ENST00000417561.3:c.783G>A	2.37:g.97637863C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8MXN2|E9PD86|Q8IUY0|Q9P0P4	Silent	SNP	NULL	p.P261	ENST00000417561.3	37	c.783		2																																																																																			FAM178B	-	NULL		0.692	FAM178B-202	KNOWN	basic	protein_coding	FAM178B	HGNC	protein_coding		C	NM_016490		97637863	-1	no_errors	ENST00000417561	ensembl	human	known	70_37	silent	SNP	0.589	T
BRINP2	57795	genome.wustl.edu	37	1	177250921	177250921	+	3'UTR	SNP	G	G	A			TCGA-DS-A3LQ-01A-21D-A21Q-09	TCGA-DS-A3LQ-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2b50946-df37-45fb-b26c-236b264da1fc	be684ac0-dfad-48b1-a133-e2e5873099b4	g.chr1:177250921G>A	ENST00000361539.4	+	0	2921				BRINP2_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	BRNP2_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 2						cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	extracellular region (GO:0005576)											CTGTAAAGTTGATTGGTGCTT	0.433																																																	0																																										SO:0001624	3_prime_UTR_variant	57795				CCDS1320.1	1q24	2013-08-06	2013-08-06	2013-07-31	ENSG00000198797	ENSG00000198797			13746	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member B"""	FAM5B		15193423	Standard	NM_021165		Approved	DBCCR1L2	uc001glf.3	Q9C0B6	OTTHUMG00000034953	ENST00000361539.4:c.*257G>A	1.37:g.177250921G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	O95560|Q6ZWC1|Q7LCZ9|Q8N360	RNA	SNP	-	NULL	ENST00000361539.4	37	NULL	CCDS1320.1	1																																																																																			FAM5B	-	-		0.433	BRINP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM5B	HGNC	protein_coding	OTTHUMT00000084599.1	G	NM_021165		177250921	+1	no_errors	ENST00000478325	ensembl	human	known	70_37	rna	SNP	0.007	A
BRINP3	339479	genome.wustl.edu	37	1	190233994	190233994	+	Splice_Site	SNP	C	C	T			TCGA-DS-A3LQ-01A-21D-A21Q-09	TCGA-DS-A3LQ-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2b50946-df37-45fb-b26c-236b264da1fc	be684ac0-dfad-48b1-a133-e2e5873099b4	g.chr1:190233994C>T	ENST00000367462.3	-	4	850		c.e4+1		BRINP3_ENST00000534846.1_Splice_Site|RP11-547I7.1_ENST00000452178.1_RNA	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3						cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)											CTCATTCTTACCTTTATGGCA	0.383																																																	0													110.0	113.0	112.0					1																	190233994		2203	4300	6503	SO:0001630	splice_region_variant	339479			AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.618+1G>A	1.37:g.190233994C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KVP1|B7Z260|O95726|Q2M330	Splice_Site	SNP	-	e3+1	ENST00000367462.3	37	c.618+1	CCDS1373.1	1	.	.	.	.	.	.	.	.	.	.	C	18.03	3.531606	0.64972	.	.	ENSG00000162670	ENST00000367462;ENST00000534846	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.2276	0.86975	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FAM5C	188500617	1.000000	0.71417	1.000000	0.80357	0.787000	0.44495	7.333000	0.79214	2.673000	0.90976	0.585000	0.79938	.	FAM5C	-	-		0.383	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM5C	HGNC	protein_coding	OTTHUMT00000086278.1	C	NM_199051	Intron	190233994	-1	no_errors	ENST00000367462	ensembl	human	known	70_37	splice_site	SNP	1.000	T
GPR98	84059	genome.wustl.edu	37	5	90445962	90445962	+	Missense_Mutation	SNP	C	C	T	rs201790936	byFrequency	TCGA-DS-A3LQ-01A-21D-A21Q-09	TCGA-DS-A3LQ-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2b50946-df37-45fb-b26c-236b264da1fc	be684ac0-dfad-48b1-a133-e2e5873099b4	g.chr5:90445962C>T	ENST00000405460.2	+	88	18644	c.18548C>T	c.(18547-18549)aCg>aTg	p.T6183M	GPR98_ENST00000425867.2_Missense_Mutation_p.T1844M	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	6183					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GCCTTTTTCACGCCCGGGAGT	0.507													C|||	2	0.000399361	0.0	0.0	5008	,	,		16815	0.0		0.0	False		,,,				2504	0.002																0								C	MET/THR	1,3911		0,1,1955	73.0	72.0	72.0		18548	5.0	1.0	5		72	0,8318		0,0,4159	yes	missense	GPR98	NM_032119.3	81	0,1,6114	TT,TC,CC		0.0,0.0256,0.0082	probably-damaging	6183/6307	90445962	1,12229	1956	4159	6115	SO:0001583	missense	84059			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.18548C>T	5.37:g.90445962C>T	ENSP00000384582:p.Thr6183Met	Somatic		WXS	Illumina HiSeq	Phase_IV	O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.T6183M	ENST00000405460.2	37	c.18548	CCDS47246.1	5	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	16.10	3.028599	0.54790	2.56E-4	0.0	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000425867	T;T	0.29397	1.62;1.57	5.89	5.01	0.66863	.	0.141721	0.47093	D	0.000244	T	0.49779	0.1577	L	0.51422	1.61	0.47862	D	0.999533	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.76575	0.953;0.974;0.988	T	0.43972	-0.9358	9	.	.	.	.	16.2877	0.82729	0.1334:0.8666:0.0:0.0	.	1844;6183;1844	E7EML1;Q8WXG9;Q8WXG9-2	.;GPR98_HUMAN;.	M	6183;6183;1844	ENSP00000384582:T6183M;ENSP00000392618:T1844M	.	T	+	2	0	GPR98	90481718	0.999000	0.42202	0.957000	0.39632	0.298000	0.27526	5.359000	0.66074	1.440000	0.47531	0.655000	0.94253	ACG	GPR98	-	NULL		0.507	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	HGNC	protein_coding	OTTHUMT00000369993.2	C	NM_032119		90445962	+1	no_errors	ENST00000405460	ensembl	human	known	70_37	missense	SNP	0.996	T
HERC2	8924	genome.wustl.edu	37	15	28443555	28443555	+	Silent	SNP	A	A	T			TCGA-DS-A3LQ-01A-21D-A21Q-09	TCGA-DS-A3LQ-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2b50946-df37-45fb-b26c-236b264da1fc	be684ac0-dfad-48b1-a133-e2e5873099b4	g.chr15:28443555A>T	ENST00000261609.7	-	50	8088	c.7980T>A	c.(7978-7980)tcT>tcA	p.S2660S		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GATGAGTCACAGATCCCCATT	0.403																																																	0													77.0	80.0	79.0					15																	28443555		2203	4300	6503	SO:0001819	synonymous_variant	8924			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.7980T>A	15.37:g.28443555A>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5,superfamily_UBA-like,superfamily_CUB,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5,prints_Reg_chr_condens	p.S2660	ENST00000261609.7	37	c.7980	CCDS10021.1	15																																																																																			HERC2	-	NULL		0.403	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC2	HGNC	protein_coding	OTTHUMT00000251358.2	A	NM_004667		28443555	-1	no_errors	ENST00000261609	ensembl	human	known	70_37	silent	SNP	0.834	T
HS6ST1	9394	genome.wustl.edu	37	2	129075877	129075877	+	Missense_Mutation	SNP	G	G	T	rs200979099		TCGA-DS-A3LQ-01A-21D-A21Q-09	TCGA-DS-A3LQ-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2b50946-df37-45fb-b26c-236b264da1fc	be684ac0-dfad-48b1-a133-e2e5873099b4	g.chr2:129075877G>T	ENST00000259241.6	-	1	274	c.261C>A	c.(259-261)gaC>gaA	p.D87E	HS6ST1_ENST00000494089.1_5'UTR	NM_004807.2	NP_004798.3	O60243	H6ST1_HUMAN	heparan sulfate 6-O-sulfotransferase 1	87					angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|labyrinthine layer blood vessel development (GO:0060716)|lung alveolus development (GO:0048286)|neuron development (GO:0048666)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)	heparan sulfate 6-O-sulfotransferase activity (GO:0017095)|sulfotransferase activity (GO:0008146)			endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.117)		AGACGATCACGTCGTCGCCCT	0.657																																																	0													10.0	16.0	14.0					2																	129075877		1658	4004	5662	SO:0001583	missense	9394			AB006179	CCDS42748.1	2q21	2010-03-19		2002-08-23	ENSG00000136720	ENSG00000136720		"""Sulfotransferases, membrane-bound"""	5201	protein-coding gene	gene with protein product		604846		HS6ST		9535912	Standard	NM_004807		Approved		uc002tpt.4	O60243	OTTHUMG00000153542	ENST00000259241.6:c.261C>A	2.37:g.129075877G>T	ENSP00000259241:p.Asp87Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DEP2|B4DJ29|Q53SL2|Q9BVI1	Missense_Mutation	SNP	pfam_Sulfotransferase	p.D87E	ENST00000259241.6	37	c.261	CCDS42748.1	2	.	.	.	.	.	.	.	.	.	.	g	21.7	4.181914	0.78677	.	.	ENSG00000136720	ENST00000259241	T	0.74947	-0.89	3.69	2.78	0.32641	.	0.000000	0.85682	U	0.000000	D	0.84924	0.5580	M	0.88031	2.925	0.80722	D	1	D	0.69078	0.997	D	0.78314	0.991	D	0.84908	0.0846	9	.	.	.	.	6.5213	0.22277	0.2434:0.0:0.7566:0.0	.	87	O60243	H6ST1_HUMAN	E	87	ENSP00000259241:D87E	.	D	-	3	2	HS6ST1	128792347	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	1.938000	0.40203	1.600000	0.50102	0.313000	0.20887	GAC	HS6ST1	-	pfam_Sulfotransferase		0.657	HS6ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HS6ST1	HGNC	protein_coding	OTTHUMT00000331572.1	G	NM_004807		129075877	-1	no_errors	ENST00000259241	ensembl	human	known	70_37	missense	SNP	1.000	T
IGFN1	91156	genome.wustl.edu	37	1	201177598	201177598	+	Missense_Mutation	SNP	G	G	A	rs573391056		TCGA-DS-A3LQ-01A-21D-A21Q-09	TCGA-DS-A3LQ-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2b50946-df37-45fb-b26c-236b264da1fc	be684ac0-dfad-48b1-a133-e2e5873099b4	g.chr1:201177598G>A	ENST00000335211.4	+	12	3707	c.3577G>A	c.(3577-3579)Gca>Aca	p.A1193T	IGFN1_ENST00000295591.8_5'UTR|IGFN1_ENST00000451870.2_Intron	NM_001164586.1	NP_001158058.1	Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1	0	Ig-like 5.					nucleus (GO:0005634)|Z disc (GO:0030018)				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TGAGTCACTCGCACCTCACAA	0.582													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16582	0.0		0.0	False		,,,				2504	0.0																0													23.0	22.0	22.0					1																	201177598		692	1591	2283	SO:0001583	missense	91156			AY245430	CCDS53455.1	1q32.1	2013-02-11			ENSG00000163395	ENSG00000163395		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	24607	protein-coding gene	gene with protein product							Standard	NM_001164586		Approved	DKFZp434B1231, EEF1A2BP1	uc001gwc.3	Q86VF2	OTTHUMG00000035728	ENST00000335211.4:c.3577G>A	1.37:g.201177598G>A	ENSP00000334714:p.Ala1193Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	F8WAI1|Q9NT72	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.A1193T	ENST00000335211.4	37	c.3577	CCDS53455.1	1	.	.	.	.	.	.	.	.	.	.	G	9.699	1.154086	0.21371	.	.	ENSG00000163395	ENST00000335211	T	0.55052	0.54	2.58	-0.799	0.10901	.	.	.	.	.	T	0.22781	0.0550	N	0.08118	0	0.09310	N	0.999999	.	.	.	.	.	.	T	0.14144	-1.0483	6	.	.	.	.	1.0794	0.01639	0.15:0.2319:0.3948:0.2233	.	.	.	.	T	1193	ENSP00000334714:A1193T	.	A	+	1	0	IGFN1	199444221	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.084000	0.11268	-0.167000	0.10871	-0.448000	0.05591	GCA	IGFN1	-	NULL		0.582	IGFN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	IGFN1	HGNC	protein_coding		G	NM_178275		201177598	+1	no_errors	ENST00000335211	ensembl	human	known	70_37	missense	SNP	0.000	A
IL6ST	3572	genome.wustl.edu	37	5	55264184	55264184	+	Silent	SNP	G	G	A			TCGA-DS-A3LQ-01A-21D-A21Q-09	TCGA-DS-A3LQ-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2b50946-df37-45fb-b26c-236b264da1fc	be684ac0-dfad-48b1-a133-e2e5873099b4	g.chr5:55264184G>A	ENST00000381298.2	-	5	723	c.411C>T	c.(409-411)aaC>aaT	p.N137N	IL6ST_ENST00000522633.2_Silent_p.N137N|IL6ST_ENST00000381293.2_Intron|IL6ST_ENST00000396816.1_Intron|IL6ST_ENST00000381287.4_Silent_p.N137N|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000577363.1_Intron|IL6ST_ENST00000536319.1_Silent_p.N137N|IL6ST_ENST00000336909.5_Silent_p.N137N|IL6ST_ENST00000502326.3_Silent_p.N137N|IL6ST_ENST00000381294.3_Silent_p.N137N	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer	137	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|glycogen metabolic process (GO:0005977)|interleukin-27-mediated signaling pathway (GO:0070106)|interleukin-6-mediated signaling pathway (GO:0070102)|leukemia inhibitory factor signaling pathway (GO:0048861)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-6-mediated signaling pathway (GO:0070104)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of Notch signaling pathway (GO:0008593)|response to cytokine (GO:0034097)|viral process (GO:0016032)	ciliary neurotrophic factor receptor complex (GO:0070110)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|interleukin-6 receptor complex (GO:0005896)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|oncostatin-M receptor complex (GO:0005900)|plasma membrane (GO:0005886)	ciliary neurotrophic factor receptor activity (GO:0004897)|ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|interleukin-11 receptor activity (GO:0004921)|interleukin-27 receptor activity (GO:0045509)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				TCTTCCCCTCGTTCACAATGC	0.348			O		hepatocellular ca																																			Dom	yes		5	5q11	3572	"""interleukin 6 signal transducer (gp130, oncostatin M receptor)"""		E	0													132.0	129.0	130.0					5																	55264184		2202	4300	6502	SO:0001819	synonymous_variant	3572			M57230	CCDS3971.1, CCDS47209.1, CCDS54856.1	5q11.2	2014-04-04	2014-04-04		ENSG00000134352	ENSG00000134352		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	6021	protein-coding gene	gene with protein product	"""gp130, oncostatin M receptor"""	600694	"""interleukin 6 signal transducer (gp130, oncostatin M receptor)"""			2261637	Standard	NM_002184		Approved	GP130, CD130	uc003jqq.3	P40189	OTTHUMG00000097043	ENST00000381298.2:c.411C>T	5.37:g.55264184G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A0N0L4|Q5FC04|Q9UQ41	Silent	SNP	pfam_IgC2-like_lig-bd,pfam_Fibronectin_type3,pfam_IL6_recept-bd,pfam_Growth/epo_recpt_lig-bind,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.N137	ENST00000381298.2	37	c.411	CCDS3971.1	5																																																																																			IL6ST	-	pfam_IL6_recept-bd,pfam_Growth/epo_recpt_lig-bind,superfamily_Fibronectin_type3,smart_Fibronectin_type3		0.348	IL6ST-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	IL6ST	HGNC	protein_coding	OTTHUMT00000214146.3	G	NM_002184		55264184	-1	no_errors	ENST00000336909	ensembl	human	known	70_37	silent	SNP	0.457	A
KIAA2018	205717	genome.wustl.edu	37	3	113376116	113376116	+	Silent	SNP	C	C	T	rs112313093|rs59601191		TCGA-DS-A3LQ-01A-21D-A21Q-09	TCGA-DS-A3LQ-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2b50946-df37-45fb-b26c-236b264da1fc	be684ac0-dfad-48b1-a133-e2e5873099b4	g.chr3:113376116C>T	ENST00000478658.1	-	5	4430	c.4413G>A	c.(4411-4413)caG>caA	p.Q1471Q	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000316407.4_Silent_p.Q1471Q			Q68DE3	K2018_HUMAN	KIAA2018	1471	Gln-rich.					membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						gctgttgctgctgctgctgct	0.498																																																	0													63.0	72.0	69.0					3																	113376116		2187	4278	6465	SO:0001819	synonymous_variant	205717			AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.4413G>A	3.37:g.113376116C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q7Z3L9|Q8IVF3|Q9H8T4	Silent	SNP	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom	p.Q1471	ENST00000478658.1	37	c.4413	CCDS43133.1	3																																																																																			KIAA2018	-	NULL		0.498	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	KIAA2018	HGNC	protein_coding	OTTHUMT00000354591.1	C	NM_001009899		113376116	-1	no_errors	ENST00000316407	ensembl	human	known	70_37	silent	SNP	1.000	T
KIF1A	547	genome.wustl.edu	37	2	241700168	241700168	+	Silent	SNP	C	C	T			TCGA-DS-A3LQ-01A-21D-A21Q-09	TCGA-DS-A3LQ-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2b50946-df37-45fb-b26c-236b264da1fc	be684ac0-dfad-48b1-a133-e2e5873099b4	g.chr2:241700168C>T	ENST00000320389.7	-	24	2489	c.2331G>A	c.(2329-2331)acG>acA	p.T777T	KIF1A_ENST00000498729.2_Silent_p.T786T	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	777				T -> K (in Ref. 1; CAA62346). {ECO:0000305}.	anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		GGAAGGGCCGCGTCTCTCGGT	0.642																																																	0													27.0	31.0	30.0					2																	241700168		1924	4109	6033	SO:0001819	synonymous_variant	547			AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	888	protein-coding gene	gene with protein product		601255	"""axonal transport of synaptic vesicles"", ""chromosome 2 open reading frame 20"", ""spastic paraplegia 30 (autosomal recessive)"""	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.2331G>A	2.37:g.241700168C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Silent	SNP	pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.T786	ENST00000320389.7	37	c.2358	CCDS46561.1	2																																																																																			KIF1A	-	NULL		0.642	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF1A	HGNC	protein_coding	OTTHUMT00000324536.3	C	NM_138483		241700168	-1	no_errors	ENST00000498729	ensembl	human	known	70_37	silent	SNP	0.776	T
LRRC1	55227	genome.wustl.edu	37	6	53784278	53784278	+	Intron	SNP	A	A	T			TCGA-DS-A3LQ-01A-21D-A21Q-09	TCGA-DS-A3LQ-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2b50946-df37-45fb-b26c-236b264da1fc	be684ac0-dfad-48b1-a133-e2e5873099b4	g.chr6:53784278A>T	ENST00000370888.1	+	12	1383				RP3-523E19.2_ENST00000474641.2_RNA	NM_018214.4	NP_060684.4	Q9BTT6	LRRC1_HUMAN	leucine rich repeat containing 1							cytoplasm (GO:0005737)|membrane (GO:0016020)				cervix(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Lung NSC(77;0.0147)			BRCA - Breast invasive adenocarcinoma(397;0.0745)		Ctttttttaaaaaaaaaaaaa	0.373																																																	0													12.0	11.0	11.0					6																	53784278		1776	3978	5754	SO:0001627	intron_variant	55227			AF332199	CCDS4953.2	6p12.2	2014-07-30	2003-11-19		ENSG00000137269	ENSG00000137269			14307	protein-coding gene	gene with protein product		608195	"""leucine-rich repeat-containing 1"""				Standard	NM_018214		Approved	dJ523E19.1, LANO, FLJ10775, FLJ11834	uc003pcd.1	Q9BTT6	OTTHUMG00000014885	ENST00000370888.1:c.1107-18A>T	6.37:g.53784278A>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5TGN3|Q9HAC0|Q9NVF1	RNA	SNP	-	NULL	ENST00000370888.1	37	NULL	CCDS4953.2	6																																																																																			LRRC1	-	-		0.373	LRRC1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC1	HGNC	protein_coding	OTTHUMT00000040970.2	A	NM_025168		53784278	+1	no_errors	ENST00000490222	ensembl	human	known	70_37	rna	SNP	0.001	T
MIR520D	574482	genome.wustl.edu	37	19	54223419	54223419	+	RNA	SNP	G	G	A			TCGA-DS-A3LQ-01A-21D-A21Q-09	TCGA-DS-A3LQ-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2b50946-df37-45fb-b26c-236b264da1fc	be684ac0-dfad-48b1-a133-e2e5873099b4	g.chr19:54223419G>A	ENST00000385002.1	+	0	70				RNU6-803P_ENST00000516034.1_RNA|MIR520G_ENST00000385064.1_RNA|MIR517B_ENST00000385102.1_RNA	NR_030204.1				microRNA 520d																		CTTCTCTTTGGTGGGTTACGG	0.443																																																	0													121.0	113.0	115.0					19																	54223419		1568	3582	5150			574482					19q13.42	2011-09-12		2008-12-18	ENSG00000207735	ENSG00000207735		"""ncRNAs / Micro RNAs"""	32114	non-coding RNA	RNA, micro				MIRN520D			Standard	NR_030204		Approved	hsa-mir-520d	uc021vah.1				19.37:g.54223419G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000385002.1	37	NULL		19																																																																																			MIR520D	-	-		0.443	MIR520D-201	KNOWN	basic	miRNA	MIR520D	HGNC	miRNA		G	NR_030204		54223419	+1	no_errors	ENST00000385002	ensembl	human	known	70_37	rna	SNP	0.251	A
MYB	4602	genome.wustl.edu	37	6	135539519	135539519	+	3'UTR	DEL	C	C	-			TCGA-DS-A3LQ-01A-21D-A21Q-09	TCGA-DS-A3LQ-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2b50946-df37-45fb-b26c-236b264da1fc	be684ac0-dfad-48b1-a133-e2e5873099b4	g.chr6:135539519delC	ENST00000367814.4	+	0	2510				MYB_ENST00000341911.5_3'UTR|MYB_ENST00000316528.8_3'UTR|MYB_ENST00000442647.2_3'UTR|MYB_ENST00000531845.1_3'UTR|MYB_ENST00000525369.1_3'UTR	NM_001161659.1|NM_005375.2	NP_001155131.1|NP_005366.2	P10242	MYB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog						B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|chromatin remodeling (GO:0006338)|embryonic digestive tract development (GO:0048566)|G1/S transition of mitotic cell cycle (GO:0000082)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 methylation (GO:0051574)|positive regulation of T-helper cell differentiation (GO:0045624)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|thymus development (GO:0048538)	nuclear matrix (GO:0016363)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		GATCACTAAACATATGCATAT	0.294			T	NFIB	adenoid cystic carcinoma																																			Dom	yes		6	6q22-23	4602	v-myb myeloblastosis viral oncogene homolog		E	0																																										SO:0001624	3_prime_UTR_variant	4602				CCDS5174.1, CCDS47481.1, CCDS47482.1, CCDS55058.1, CCDS55059.1, CCDS55060.1, CCDS55061.1, CCDS55062.1	6q22-q23	2013-07-09	2013-07-09		ENSG00000118513	ENSG00000118513			7545	protein-coding gene	gene with protein product		189990				17599807	Standard	NM_001130172		Approved	c-myb	uc003qfh.3	P10242	OTTHUMG00000015629	ENST00000367814.4:c.*401C>-	6.37:g.135539519delC		Somatic		WXS	Illumina HiSeq	Phase_IV	E9PI07|E9PLZ5|E9PNA4|E9PNL6|E9PRS2|P78391|P78392|P78525|P78526|Q14023|Q14024|Q708E4|Q708E7|Q9UE83	RNA	DEL	-	NULL	ENST00000367814.4	37	NULL	CCDS5174.1	6																																																																																			MYB	-	-		0.294	MYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MYB	HGNC	protein_coding	OTTHUMT00000042347.4	C			135539519	+1	no_errors	ENST00000531845	ensembl	human	known	70_37	rna	DEL	1.000	-
NPIPB7	440350	genome.wustl.edu	37	16	28481749	28481749	+	Missense_Mutation	SNP	C	C	T	rs201682937		TCGA-DS-A3LQ-01A-21D-A21Q-09	TCGA-DS-A3LQ-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2b50946-df37-45fb-b26c-236b264da1fc	be684ac0-dfad-48b1-a133-e2e5873099b4	g.chr16:28481749C>T	ENST00000452313.1	-	1	119	c.11G>A	c.(10-12)cGc>cAc	p.R4H	CLN3_ENST00000535392.1_Intron|CLN3_ENST00000568224.1_Intron			O75200	NPIB7_HUMAN	nuclear pore complex interacting protein family, member B7	4						extracellular region (GO:0005576)											GAGCCAAAAGCGCAGCCGCAT	0.632																																																	0													14.0	15.0	15.0					16																	28481749		2185	4288	6473	SO:0001583	missense	440350			BC156858, AC002425		16p11.2	2013-06-11	2013-06-11	2013-06-11	ENSG00000233232	ENSG00000233232			33832	other	unknown			"""nuclear pore complex interacting protein-like 1"""	NPIPL1			Standard	NG_023370		Approved	LOC440350	uc010vcq.2	O75200	OTTHUMG00000156915	ENST00000452313.1:c.11G>A	16.37:g.28481749C>T	ENSP00000405348:p.Arg4His	Somatic		WXS	Illumina HiSeq	Phase_IV	E7ERT9	Missense_Mutation	SNP	pfam_NPIP	p.R4H	ENST00000452313.1	37	c.11		16	.	.	.	.	.	.	.	.	.	.	N	6.805	0.517661	0.13005	.	.	ENSG00000233232	ENST00000452313	T	0.52754	0.65	.	.	.	.	.	.	.	.	T	0.43678	0.1258	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.43245	-0.9403	4	0.87932	D	0	.	.	.	.	.	.	.	.	H	4	ENSP00000405348:R4H	ENSP00000405348:R4H	R	-	2	0	NPIPL1	28389250	0.001000	0.12720	0.010000	0.14722	0.010000	0.07245	0.105000	0.15333	0.064000	0.16427	0.064000	0.15345	CGC	NPIPL1	-	NULL		0.632	NPIPB7-001	NOVEL	basic|appris_principal	protein_coding	NPIPL1	HGNC	protein_coding	OTTHUMT00000346596.1	C	NG_023370		28481749	-1	no_errors	ENST00000452313	ensembl	human	novel	70_37	missense	SNP	0.010	T
OR2G3	81469	genome.wustl.edu	37	1	247768978	247768978	+	Missense_Mutation	SNP	G	G	C	rs77435457		TCGA-DS-A3LQ-01A-21D-A21Q-09	TCGA-DS-A3LQ-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2b50946-df37-45fb-b26c-236b264da1fc	be684ac0-dfad-48b1-a133-e2e5873099b4	g.chr1:247768978G>C	ENST00000320002.2	+	1	123	c.91G>C	c.(91-93)Gtc>Ctc	p.V31L	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA|RNU6-691P_ENST00000516585.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	31						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	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)			CTTTGTATTTGTCCTTTTCTT	0.468																																																	0													209.0	214.0	212.0					1																	247768978		2203	4300	6503	SO:0001583	missense	81469			BK004417	CCDS31093.1	1q44	2012-08-09			ENSG00000177476	ENSG00000177476		"""GPCR / Class A : Olfactory receptors"""	15008	protein-coding gene	gene with protein product							Standard	NM_001001914		Approved		uc010pyz.2	Q8NGZ4	OTTHUMG00000040576	ENST00000320002.2:c.91G>C	1.37:g.247768978G>C	ENSP00000326301:p.Val31Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RN64|Q5JQT1|Q6IF45	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V31L	ENST00000320002.2	37	c.91	CCDS31093.1	1	.	.	.	.	.	.	.	.	.	.	G	9.331	1.060517	0.19987	.	.	ENSG00000177476	ENST00000320002	T	0.00573	6.48	3.79	0.563	0.17296	.	0.241275	0.20321	U	0.094624	T	0.00356	0.0011	N	0.13352	0.335	0.09310	N	1	B	0.26512	0.151	B	0.26770	0.073	T	0.44375	-0.9332	10	0.20046	T	0.44	.	3.1137	0.06367	0.2283:0.0:0.4675:0.3042	.	31	Q8NGZ4	OR2G3_HUMAN	L	31	ENSP00000326301:V31L	ENSP00000326301:V31L	V	+	1	0	OR2G3	245835601	0.000000	0.05858	0.004000	0.12327	0.935000	0.57460	-0.569000	0.05902	0.394000	0.25230	0.486000	0.48141	GTC	OR2G3	-	prints_GPCR_Rhodpsn		0.468	OR2G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2G3	HGNC	protein_coding	OTTHUMT00000097624.1	G			247768978	+1	no_errors	ENST00000320002	ensembl	human	known	70_37	missense	SNP	0.003	C
PABPC3	5042	genome.wustl.edu	37	13	25671667	25671667	+	Missense_Mutation	SNP	A	A	T	rs75484271	byFrequency	TCGA-DS-A3LQ-01A-21D-A21Q-09	TCGA-DS-A3LQ-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2b50946-df37-45fb-b26c-236b264da1fc	be684ac0-dfad-48b1-a133-e2e5873099b4	g.chr13:25671667A>T	ENST00000281589.3	+	1	1368	c.1331A>T	c.(1330-1332)aAg>aTg	p.K444M		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	444					mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		TTCCAAAATAAGCCCAGTGCT	0.512													a|||	614	0.122604	0.177	0.098	5008	,	,		24217	0.0744		0.0686	False		,,,				2504	0.1718																0													139.0	137.0	138.0					13																	25671667		2203	4300	6503	SO:0001583	missense	5042			AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"""RNA binding motif (RRM) containing"""	8556	protein-coding gene	gene with protein product	"""testis PABP"""	604680	"""poly(A)-binding protein, cytoplasmic 3"""	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.1331A>T	13.37:g.25671667A>T	ENSP00000281589:p.Lys444Met	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8NHV0|Q9H086	Missense_Mutation	SNP	pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234	p.K444M	ENST00000281589.3	37	c.1331	CCDS9311.1	13	.	.	.	.	.	.	.	.	.	.	A	1.693	-0.503632	0.04261	.	.	ENSG00000151846	ENST00000281589	T	0.25749	1.78	0.875	-1.75	0.08031	.	0.098626	0.41194	N	0.000937	T	0.02455	0.0075	N	0.00054	-2.38	0.23962	N	0.996331	B	0.02656	0.0	B	0.01281	0.0	T	0.29088	-1.0023	10	0.02654	T	1	.	2.1823	0.03878	0.2572:0.2138:0.0:0.529	.	444	Q9H361	PABP3_HUMAN	M	444	ENSP00000281589:K444M	ENSP00000281589:K444M	K	+	2	0	PABPC3	24569667	1.000000	0.71417	0.893000	0.35052	0.101000	0.19017	2.376000	0.44292	-1.161000	0.02800	-0.991000	0.02546	AAG	PABPC3	-	tigrfam_PABP_1234		0.512	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PABPC3	HGNC	protein_coding	OTTHUMT00000044220.2	A	NM_030979		25671667	+1	no_errors	ENST00000281589	ensembl	human	known	70_37	missense	SNP	1.000	T
PCDHB18	54660	genome.wustl.edu	37	5	140615760	140615760	+	RNA	SNP	T	T	C	rs548676549	byFrequency	TCGA-DS-A3LQ-01A-21D-A21Q-09	TCGA-DS-A3LQ-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2b50946-df37-45fb-b26c-236b264da1fc	be684ac0-dfad-48b1-a133-e2e5873099b4	g.chr5:140615760T>C	ENST00000526308.1	+	0	1823					NR_001281.1		Q96TA0	PCDBI_HUMAN	protocadherin beta 18 pseudogene						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						AGCAGCGAGGTGCTGGTGCGC	0.682													C|||	8	0.00159744	0.0015	0.0	5008	,	,		16086	0.0		0.001	False		,,,				2504	0.0051																0																																												54660			AF152528		5q31.3	2014-03-20			ENSG00000146001	ENSG00000146001		"""Cadherins / Protocadherins : Clustered"""	14548	pseudogene	pseudogene						10380929	Standard	NR_001281		Approved	PCDH-psi2	uc003ljc.1	Q96TA0	OTTHUMG00000167484		5.37:g.140615760T>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KTF8	RNA	SNP	-	NULL	ENST00000526308.1	37	NULL		5																																																																																			PCDHB18	-	-		0.682	PCDHB18-002	KNOWN	basic	processed_transcript	PCDHB18	HGNC	pseudogene	OTTHUMT00000394776.1	T			140615760	+1	no_errors	ENST00000526308	ensembl	human	known	70_37	rna	SNP	0.326	C
RAD51AP1	10635	genome.wustl.edu	37	12	4668038	4668038	+	Missense_Mutation	SNP	G	G	A			TCGA-DS-A3LQ-01A-21D-A21Q-09	TCGA-DS-A3LQ-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2b50946-df37-45fb-b26c-236b264da1fc	be684ac0-dfad-48b1-a133-e2e5873099b4	g.chr12:4668038G>A	ENST00000544927.1	+	8	689	c.679G>A	c.(679-681)Gca>Aca	p.A227T	RAD51AP1_ENST00000543041.1_Missense_Mutation_p.S194N|RAD51AP1_ENST00000544931.1_3'UTR|RAD51AP1_ENST00000352618.4_Missense_Mutation_p.S296N|RAD51AP1_ENST00000228843.9_Missense_Mutation_p.S313N|RAD51AP1_ENST00000321524.7_Missense_Mutation_p.S263N					RAD51 associated protein 1											breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00306)|COAD - Colon adenocarcinoma(12;0.0389)			TCTGGAGGTAGCAGAAGTAGC	0.423																																																	0													114.0	99.0	104.0					12																	4668038		2203	4300	6503	SO:0001583	missense	10635			AF006259	CCDS8529.1, CCDS44805.1	12p13.2-p13.1	2004-09-16			ENSG00000111247	ENSG00000111247			16956	protein-coding gene	gene with protein product		603070				9396801	Standard	NM_001130862		Approved	PIR51	uc001qmw.3	Q96B01	OTTHUMG00000168125	ENST00000544927.1:c.679G>A	12.37:g.4668038G>A	ENSP00000446296:p.Ala227Thr	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.S313N	ENST00000544927.1	37	c.938		12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.434|9.434	1.086349|1.086349	0.20390|0.20390	.|.	.|.	ENSG00000111247|ENSG00000111247	ENST00000544927|ENST00000321524;ENST00000543041;ENST00000228843;ENST00000352618	T|T;T;T;T	0.24908|0.50548	1.83|0.74;0.74;0.74;0.74	4.67|4.67	3.78|3.78	0.43462|0.43462	.|.	.|0.483859	.|0.18543	.|N	.|0.138155	T|T	0.46386|0.46386	0.1390|0.1390	L|L	0.55481|0.55481	1.735|1.735	0.27367|0.27367	N|N	0.955803|0.955803	.|P;B;B;B	.|0.46142	.|0.873;0.077;0.077;0.041	.|P;B;B;B	.|0.46452	.|0.517;0.021;0.014;0.027	T|T	0.35475|0.35475	-0.9787|-0.9787	7|10	0.87932|0.41790	D|T	0|0.15	-0.6676|-0.6676	8.3706|8.3706	0.32412|0.32412	0.1062:0.0:0.8938:0.0|0.1062:0.0:0.8938:0.0	.|.	.|194;313;313;296	.|B4DUS5;Q96B01;A8K313;Q96B01-2	.|.;R51A1_HUMAN;.;.	T|N	227|263;194;313;296	ENSP00000446296:A227T|ENSP00000323750:S263N;ENSP00000439960:S194N;ENSP00000228843:S313N;ENSP00000309479:S296N	ENSP00000446296:A227T|ENSP00000228843:S313N	A|S	+|+	1|2	0|0	RAD51AP1|RAD51AP1	4538299|4538299	1.000000|1.000000	0.71417|0.71417	0.435000|0.435000	0.26784|0.26784	0.825000|0.825000	0.46686|0.46686	2.622000|2.622000	0.46427|0.46427	1.194000|1.194000	0.43101|0.43101	0.655000|0.655000	0.94253|0.94253	GCA|AGC	RAD51AP1	-	NULL		0.423	RAD51AP1-012	PUTATIVE	basic|exp_conf	protein_coding	RAD51AP1	HGNC	protein_coding	OTTHUMT00000399208.1	G	NM_006479		4668038	+1	no_errors	ENST00000228843	ensembl	human	known	70_37	missense	SNP	0.884	A
RALGAPA1	253959	genome.wustl.edu	37	14	36008548	36008549	+	3'UTR	INS	-	-	A	rs546179294	byFrequency	TCGA-DS-A3LQ-01A-21D-A21Q-09	TCGA-DS-A3LQ-10A-01D-A21Q-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2b50946-df37-45fb-b26c-236b264da1fc	be684ac0-dfad-48b1-a133-e2e5873099b4	g.chr14:36008548_36008549insA	ENST00000389698.3	-	0	6872_6873				RALGAPA1_ENST00000258840.6_3'UTR|RALGAPA1_ENST00000307138.6_3'UTR	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)						activation of Ral GTPase activity (GO:0032859)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TGGATTGTGGGAAAAAAAATGA	0.277																																																	0																																										SO:0001624	3_prime_UTR_variant	253959			AK126975	CCDS32064.1, CCDS32065.1, CCDS61439.1	14q13.2	2012-01-26	2009-09-09	2009-09-09	ENSG00000174373	ENSG00000174373			17770	protein-coding gene	gene with protein product	"""tuberin-like protein 1"", ""GAP-related interacting protein to E12"""	608884	"""GTPase activating RANGAP domain-like 1"", ""GTPase activating Rap/RanGAP domain-like 1"""	GARNL1		19520869	Standard	NM_014990		Approved	GRIPE, DKFZp667F074, KIAA0884, Tulip1, RalGAPalpha1	uc001wtj.3	Q6GYQ0	OTTHUMG00000170619	ENST00000389698.3:c.*372->T	14.37:g.36008556_36008556dupA		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	RNA	INS	-	NULL	ENST00000389698.3	37	NULL	CCDS32065.1	14																																																																																			RALGAPA1	-	-		0.277	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	RALGAPA1	HGNC	protein_coding	OTTHUMT00000409829.1	-	XM_210022		36008549	-1	no_errors	ENST00000556106	ensembl	human	known	70_37	rna	INS	0.001:0.002	A
RARG	5916	genome.wustl.edu	37	12	53605639	53605639	+	Missense_Mutation	SNP	T	T	C			TCGA-DS-A3LQ-01A-21D-A21Q-09	TCGA-DS-A3LQ-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2b50946-df37-45fb-b26c-236b264da1fc	be684ac0-dfad-48b1-a133-e2e5873099b4	g.chr12:53605639T>C	ENST00000425354.2	-	10	1673	c.1186A>G	c.(1186-1188)Agg>Ggg	p.R396G	RARG_ENST00000394426.1_Missense_Mutation_p.R396G|RARG_ENST00000543726.1_Missense_Mutation_p.R374G|RARG_ENST00000543762.1_5'UTR|RARG_ENST00000327550.3_Missense_Mutation_p.R324G|RARG_ENST00000338561.5_Missense_Mutation_p.R385G	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma	396	Ligand-binding.				anterior/posterior pattern specification (GO:0009952)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|embryonic camera-type eye development (GO:0031076)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|face development (GO:0060324)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage chondrocyte growth (GO:0003430)|Harderian gland development (GO:0070384)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of programmed cell death (GO:0043068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of cell size (GO:0008361)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|retinal pigment epithelium development (GO:0003406)|retinoic acid receptor signaling pathway (GO:0048384)|trachea cartilage development (GO:0060534)|transcription initiation from RNA polymerase II promoter (GO:0006367)	integral component of membrane (GO:0016021)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|retinoic acid receptor activity (GO:0003708)|retinoid X receptor binding (GO:0046965)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tazarotene(DB00799)|Tretinoin(DB00755)	GTAATGGCCCTTTCAGCTCCT	0.532											OREG0021862	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													56.0	55.0	55.0					12																	53605639		2203	4300	6503	SO:0001583	missense	5916			M57707	CCDS8850.1, CCDS41790.1, CCDS58236.1, CCDS58237.1	12q13	2013-01-16			ENSG00000172819	ENSG00000172819		"""Nuclear hormone receptors"""	9866	protein-coding gene	gene with protein product		180190				1849262	Standard	NM_001042728		Approved	RARC, NR1B3	uc001scf.3	P13631	OTTHUMG00000048077	ENST00000425354.2:c.1186A>G	12.37:g.53605639T>C	ENSP00000388510:p.Arg396Gly	Somatic	993	WXS	Illumina HiSeq	Phase_IV	B7Z492|B7Z4F1|B7ZAE4|J3KNP6|P22932|Q15281|Q52LZ8|Q9BYX8|Q9H1I3|Q9UJ38	Missense_Mutation	SNP	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Nuc_orph_rcpt,prints_Retinoid-X_rcpt/HNF4	p.R396G	ENST00000425354.2	37	c.1186	CCDS8850.1	12	.	.	.	.	.	.	.	.	.	.	T	17.05	3.289648	0.59976	.	.	ENSG00000172819	ENST00000425354;ENST00000394426;ENST00000327550;ENST00000338561;ENST00000543726	T;T;T;T;T	0.36699	1.24;1.24;1.24;1.24;1.24	4.88	-2.18	0.07037	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (1);	0.226336	0.42172	D	0.000749	T	0.60353	0.2262	M	0.85197	2.74	0.58432	D	0.999992	D;P;D	0.76494	0.975;0.925;0.999	P;P;D	0.75020	0.505;0.574;0.985	T	0.72164	-0.4373	10	0.87932	D	0	.	16.7937	0.85596	0.0:0.0:0.795:0.205	.	374;396;385	B7Z4F1;P13631;F1D8P1	.;RARG_HUMAN;.	G	396;396;324;385;374	ENSP00000388510:R396G;ENSP00000377947:R396G;ENSP00000332695:R324G;ENSP00000343698:R385G;ENSP00000444335:R374G	ENSP00000332695:R324G	R	-	1	2	RARG	51891906	1.000000	0.71417	0.997000	0.53966	0.931000	0.56810	2.521000	0.45563	-0.070000	0.12908	0.460000	0.39030	AGG	RARG	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,prints_Retinoic_acid_rcpt,prints_Nuc_orph_rcpt		0.532	RARG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RARG	HGNC	protein_coding	OTTHUMT00000109404.2	T	NM_000966		53605639	-1	no_errors	ENST00000394426	ensembl	human	known	70_37	missense	SNP	1.000	C
REV3L	5980	genome.wustl.edu	37	6	111620606	111620608	+	3'UTR	DEL	AAA	AAA	-	rs3049440|rs199677596|rs201523626|rs200664035|rs397725475	byFrequency	TCGA-DS-A3LQ-01A-21D-A21Q-09	TCGA-DS-A3LQ-10A-01D-A21Q-09	AAA	AAA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2b50946-df37-45fb-b26c-236b264da1fc	be684ac0-dfad-48b1-a133-e2e5873099b4	g.chr6:111620606_111620608delAAA	ENST00000358835.3	-	0	10458_10460				REV3L_ENST00000462119.1_5'UTR|REV3L_ENST00000368805.1_3'UTR|REV3L_ENST00000435970.1_3'UTR|REV3L_ENST00000368802.3_3'UTR|RP5-1112D6.7_ENST00000607386.1_lincRNA			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit						DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		AGCATTTTTTAAAAAAAAATAAT	0.34								DNA polymerases (catalytic subunits)						3513	0.701478	0.4977	0.7421	5008	,	,		16966	0.7748		0.837	False		,,,				2504	0.7331																0																																										SO:0001624	3_prime_UTR_variant	5980			AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"""DNA polymerases"""	9968	protein-coding gene	gene with protein product	"""polymerase, DNA, zeta"""	602776	"""REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta"", ""REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"""			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.*613TTT>-	6.37:g.111620612_111620614delAAA		Somatic		WXS	Illumina HiSeq	Phase_IV	O43214|Q5TC33	RNA	DEL	-	NULL	ENST00000358835.3	37	NULL	CCDS5091.2	6																																																																																			REV3L	-	-		0.340	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	REV3L	HGNC	protein_coding	OTTHUMT00000043695.1	AAA	NM_002912		111620608	-1	no_errors	ENST00000462119	ensembl	human	known	70_37	rna	DEL	0.997:1.000:1.000	-
RUNX2	860	genome.wustl.edu	37	6	45480078	45480079	+	Frame_Shift_Ins	INS	-	-	C			TCGA-DS-A3LQ-01A-21D-A21Q-09	TCGA-DS-A3LQ-10A-01D-A21Q-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2b50946-df37-45fb-b26c-236b264da1fc	be684ac0-dfad-48b1-a133-e2e5873099b4	g.chr6:45480078_45480079insC	ENST00000371438.1	+	6	1313_1314	c.955_956insC	c.(955-957)accfs	p.T319fs	RUNX2_ENST00000371436.6_Frame_Shift_Ins_p.T319fs|RUNX2_ENST00000371432.3_Frame_Shift_Ins_p.T305fs|RUNX2_ENST00000352853.5_Frame_Shift_Ins_p.T387fs|RUNX2_ENST00000541979.1_Frame_Shift_Ins_p.T387fs|RUNX2_ENST00000465038.2_Frame_Shift_Ins_p.T319fs|RUNX2_ENST00000359524.5_Frame_Shift_Ins_p.T305fs|RUNX2_ENST00000576263.1_Frame_Shift_Ins_p.T319fs	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	319	Pro/Ser/Thr-rich.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						CCACTCTACCACCCCGCTGTCT	0.589																																																	0																																										SO:0001589	frameshift_variant	860			AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.959dupC	6.37:g.45480082_45480082dupC	ENSP00000360493:p.Thr319fs	Somatic		WXS	Illumina HiSeq	Phase_IV	O14614|O14615|O95181	Frame_Shift_Ins	INS	pfam_AML1/Runt_N,pfam_RunxI,superfamily_p53-like_TF_DNA-bd,pfscan_AML1/Runt_N,prints_AML1_Runt	p.L389fs	ENST00000371438.1	37	c.1159_1160	CCDS43467.2	6																																																																																			RUNX2	-	NULL		0.589	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	RUNX2	HGNC	protein_coding	OTTHUMT00000040755.2	-	NM_004348		45480079	+1	no_errors	ENST00000352853	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:1.000	C
S100A4	6275	genome.wustl.edu	37	1	153516163	153516163	+	3'UTR	DEL	A	A	-	rs71820511	byFrequency	TCGA-DS-A3LQ-01A-21D-A21Q-09	TCGA-DS-A3LQ-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2b50946-df37-45fb-b26c-236b264da1fc	be684ac0-dfad-48b1-a133-e2e5873099b4	g.chr1:153516163delA	ENST00000368716.4	-	0	525				S100A5_ENST00000368717.2_5'Flank|S100A4_ENST00000368715.1_3'UTR|S100A4_ENST00000368714.1_3'UTR|S100A5_ENST00000368718.1_5'Flank|S100A5_ENST00000359215.1_5'Flank|S100A4_ENST00000481009.1_5'UTR|S100A4_ENST00000354332.4_3'UTR	NM_002961.2	NP_002952.1	P26447	S10A4_HUMAN	S100 calcium binding protein A4						epithelial to mesenchymal transition (GO:0001837)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)|RAGE receptor binding (GO:0050786)			large_intestine(2)|lung(1)|prostate(1)	4	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)		Trifluoperazine(DB00831)	GCCAGGGTGGAAAAAAAAAAG	0.527													|||unknown(HR)	155	0.0309505	0.1021	0.0072	5008	,	,		16324	0.001		0.002	False		,,,				2504	0.0123																0																																										SO:0001624	3_prime_UTR_variant	6275			BC016300	CCDS1042.1	1q12-q22	2013-01-10	2006-09-11		ENSG00000196154	ENSG00000196154		"""S100 calcium binding proteins"", ""EF-hand domain containing"""	10494	protein-coding gene	gene with protein product	"""fibroblast-specific protein-1"""	114210	"""S100 calcium-binding protein A4 (calcium protein, calvasculin, metastasin, murine placental homolog)"", ""S100 calcium binding protein A4 (calcium protein, calvasculin, metastasin, murine placental homolog)"""	MTS1, CAPL		3155863	Standard	NM_019554		Approved	P9KA, 18A2, PEL98, 42A, FSP1	uc001fbz.3	P26447	OTTHUMG00000013546	ENST00000368716.4:c.*72T>-	1.37:g.153516163delA		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K7R8|D3DV46|Q6ICP8	RNA	DEL	-	NULL	ENST00000368716.4	37	NULL	CCDS1042.1	1																																																																																			S100A4	-	-		0.527	S100A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	S100A4	HGNC	protein_coding	OTTHUMT00000037714.1	A	NM_002961		153516163	-1	no_errors	ENST00000468373	ensembl	human	known	70_37	rna	DEL	0.000	-
SLAMF6	114836	genome.wustl.edu	37	1	160466129	160466129	+	Missense_Mutation	SNP	C	C	T			TCGA-DS-A3LQ-01A-21D-A21Q-09	TCGA-DS-A3LQ-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2b50946-df37-45fb-b26c-236b264da1fc	be684ac0-dfad-48b1-a133-e2e5873099b4	g.chr1:160466129C>T	ENST00000368057.3	-	2	164	c.104G>A	c.(103-105)gGg>gAg	p.G35E	SLAMF6_ENST00000368055.1_Intron|SLAMF6_ENST00000368059.3_Missense_Mutation_p.G35E			Q96DU3	SLAF6_HUMAN	SLAM family member 6	35	Ig-like V-type.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			TACTGACTCCCCCAGAATCCC	0.443																																																	0													184.0	183.0	183.0					1																	160466129		2203	4300	6503	SO:0001583	missense	114836			AL832854	CCDS1205.1, CCDS53393.1, CCDS53394.1	1q23.1	2013-01-29			ENSG00000162739	ENSG00000162739		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	21392	protein-coding gene	gene with protein product		606446				11489943	Standard	NM_052931		Approved	KALI, NTBA, KALIb, Ly108, SF2000, NTB-A, CD352	uc001fwe.2	Q96DU3	OTTHUMG00000022729	ENST00000368057.3:c.104G>A	1.37:g.160466129C>T	ENSP00000357036:p.Gly35Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NMW2|B2R8X8|Q14CF0|Q5TAS4|Q5TAS6|Q5TAT3|Q96DV0	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like	p.G35E	ENST00000368057.3	37	c.104	CCDS53394.1	1	.	.	.	.	.	.	.	.	.	.	C	14.99	2.700808	0.48307	.	.	ENSG00000162739	ENST00000368059;ENST00000368057	T;T	0.81078	-1.45;-1.45	4.95	3.04	0.35103	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	0.360182	0.31601	N	0.007366	D	0.83741	0.5320	M	0.87038	2.855	0.09310	N	0.999999	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	T	0.75883	-0.3160	10	0.66056	D	0.02	-8.35	6.0837	0.19954	0.1846:0.7202:0.0:0.0953	.	35;35	Q96DU3;B2R8X8	SLAF6_HUMAN;.	E	35	ENSP00000357038:G35E;ENSP00000357036:G35E	ENSP00000357036:G35E	G	-	2	0	SLAMF6	158732753	0.002000	0.14202	0.002000	0.10522	0.016000	0.09150	0.918000	0.28678	0.653000	0.30826	0.655000	0.94253	GGG	SLAMF6	-	pfam_Ig_V-set,smart_Ig_sub		0.443	SLAMF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLAMF6	HGNC	protein_coding	OTTHUMT00000059010.1	C	NM_052931		160466129	-1	no_errors	ENST00000368057	ensembl	human	known	70_37	missense	SNP	0.003	T
SNTB1	6641	genome.wustl.edu	37	8	121583520	121583520	+	Intron	SNP	G	G	T			TCGA-DS-A3LQ-01A-21D-A21Q-09	TCGA-DS-A3LQ-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2b50946-df37-45fb-b26c-236b264da1fc	be684ac0-dfad-48b1-a133-e2e5873099b4	g.chr8:121583520G>T	ENST00000395601.3	-	5	1551				SNTB1_ENST00000517992.1_Intron|SNTB1_ENST00000519177.1_5'UTR	NM_021021.3	NP_066301.1	Q13884	SNTB1_HUMAN	syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1)						muscle contraction (GO:0006936)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|focal adhesion (GO:0005925)|protein complex (GO:0043234)|synapse (GO:0045202)				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6)	24	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)			TTAGTAACTGGAATCCAGTGA	0.398																																																	0																																										SO:0001627	intron_variant	6641			AF028828	CCDS6334.1	8q23-q24	2013-01-10	2002-08-29		ENSG00000172164	ENSG00000172164		"""Pleckstrin homology (PH) domain containing"""	11168	protein-coding gene	gene with protein product	"""tax interaction protein 43"""	600026	"""syntrophin, beta 1 (dystrophin-associated protein A1, 59kD, basic component 1)"""	SNT2B1		8183929, 9482110	Standard	NM_021021		Approved	59-DAP, A1B, BSYN2, TIP-43, SNT2	uc010mdg.3	Q13884	OTTHUMG00000165041	ENST00000395601.3:c.1136+3805C>A	8.37:g.121583520G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K9E0|O14912|Q4KMG8	RNA	SNP	-	NULL	ENST00000395601.3	37	NULL	CCDS6334.1	8																																																																																			SNTB1	-	-		0.398	SNTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNTB1	HGNC	protein_coding	OTTHUMT00000381535.1	G	NM_021021		121583520	-1	no_errors	ENST00000519177	ensembl	human	known	70_37	rna	SNP	0.000	T
TPO	7173	genome.wustl.edu	37	2	1491726	1491726	+	Silent	SNP	C	C	T			TCGA-DS-A3LQ-01A-21D-A21Q-09	TCGA-DS-A3LQ-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2b50946-df37-45fb-b26c-236b264da1fc	be684ac0-dfad-48b1-a133-e2e5873099b4	g.chr2:1491726C>T	ENST00000345913.4	+	10	1822	c.1731C>T	c.(1729-1731)tcC>tcT	p.S577S	TPO_ENST00000382201.3_Intron|TPO_ENST00000497517.2_Intron|TPO_ENST00000382198.1_Silent_p.S404S|TPO_ENST00000329066.4_Silent_p.S577S|TPO_ENST00000346956.3_Silent_p.S577S|TPO_ENST00000337415.3_Silent_p.S577S|TPO_ENST00000349624.3_Silent_p.S404S	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	577					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	ATCTGGCGTCCATCAACCTGC	0.592																																																	0													111.0	100.0	104.0					2																	1491726		2203	4300	6503	SO:0001819	synonymous_variant	7173				CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.1731C>T	2.37:g.1491726C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Silent	SNP	pfam_Haem_peroxidase_animal,pfam_EGF-like_Ca-bd,superfamily_Haem_peroxidase,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr	p.S577	ENST00000345913.4	37	c.1731	CCDS1643.1	2																																																																																			TPO	-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal		0.592	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TPO	HGNC	protein_coding	OTTHUMT00000206594.2	C	NM_000547		1491726	+1	no_errors	ENST00000329066	ensembl	human	known	70_37	silent	SNP	0.000	T
SPHKAP	80309	genome.wustl.edu	37	2	228883398	228883398	+	Missense_Mutation	SNP	C	C	T			TCGA-DS-A3LQ-01A-21D-A21Q-09	TCGA-DS-A3LQ-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2b50946-df37-45fb-b26c-236b264da1fc	be684ac0-dfad-48b1-a133-e2e5873099b4	g.chr2:228883398C>T	ENST00000392056.3	-	7	2218	c.2172G>A	c.(2170-2172)atG>atA	p.M724I	SPHKAP_ENST00000344657.5_Missense_Mutation_p.M724I	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	724						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			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)		CAATATGACTCATCTTCTTGA	0.453																																																	0													184.0	166.0	172.0					2																	228883398		2203	4300	6503	SO:0001583	missense	80309				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.2172G>A	2.37:g.228883398C>T	ENSP00000375909:p.Met724Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	pfam_AKAP_110_C	p.M724I	ENST00000392056.3	37	c.2172	CCDS46537.1	2	.	.	.	.	.	.	.	.	.	.	C	10.76	1.441110	0.25900	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.10573	2.86;2.86	5.81	4.92	0.64577	.	0.037998	0.85682	D	0.000000	T	0.15998	0.0385	M	0.68593	2.085	0.45676	D	0.99859	B;B	0.28880	0.022;0.226	B;B	0.34093	0.012;0.175	T	0.02975	-1.1087	10	0.24483	T	0.36	.	14.6124	0.68524	0.2774:0.7226:0.0:0.0	.	724;724	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	I	724	ENSP00000375909:M724I;ENSP00000339886:M724I	ENSP00000339886:M724I	M	-	3	0	SPHKAP	228591642	0.988000	0.35896	0.989000	0.46669	0.806000	0.45545	1.394000	0.34509	1.557000	0.49525	0.655000	0.94253	ATG	SPHKAP	-	NULL		0.453	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPHKAP	HGNC	protein_coding	OTTHUMT00000331750.1	C	NM_030623		228883398	-1	no_errors	ENST00000392056	ensembl	human	known	70_37	missense	SNP	0.989	T
TRIP10	9322	genome.wustl.edu	37	19	6750600	6750600	+	Missense_Mutation	SNP	C	C	T			TCGA-DS-A3LQ-01A-21D-A21Q-09	TCGA-DS-A3LQ-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2b50946-df37-45fb-b26c-236b264da1fc	be684ac0-dfad-48b1-a133-e2e5873099b4	g.chr19:6750600C>T	ENST00000313244.9	+	14	1648	c.1613C>T	c.(1612-1614)cCc>cTc	p.P538L	TRIP10_ENST00000600428.1_Missense_Mutation_p.P374L|TRIP10_ENST00000596758.1_Missense_Mutation_p.P482L|TRIP10_ENST00000313285.8_Missense_Mutation_p.P482L|CTD-3128G10.6_ENST00000594056.1_RNA			Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	538	Interaction with DNM1 and WASL.|Interaction with DNM2 and WASL. {ECO:0000250}.|Interaction with PDE6G. {ECO:0000250}.|Required for interaction with FASLG and localization to lysosomes.|Required for podosome formation.				actin cytoskeleton organization (GO:0030036)|cell communication (GO:0007154)|endocytosis (GO:0006897)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						GAGGAGGAACCCACATCCCCC	0.557																																																	0													102.0	85.0	91.0					19																	6750600		2203	4300	6503	SO:0001583	missense	9322			AB072596	CCDS12172.1, CCDS74271.1, CCDS74272.1	19p13.3	2008-02-05			ENSG00000125733	ENSG00000125733			12304	protein-coding gene	gene with protein product	"""Cdc42-interacting protein"""	604504	"""salt tolerator"""	STOT		7776974, 9210375, 11294612	Standard	XM_005259683		Approved	STP, HSTP, CIP4	uc002mfr.3	Q15642	OTTHUMG00000150255	ENST00000313244.9:c.1613C>T	19.37:g.6750600C>T	ENSP00000320117:p.Pro538Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R8A6|B7WP22|D6W645|O15184|Q53G22|Q5TZN1|Q6FI24|Q8NFL1|Q8TCY1|Q8TDX3|Q96RJ1	Missense_Mutation	SNP	pfam_FCH,pfam_SH3_domain,superfamily_SH3_domain,smart_FCH,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain	p.P538L	ENST00000313244.9	37	c.1613		19	.	.	.	.	.	.	.	.	.	.	C	9.840	1.190716	0.21954	.	.	ENSG00000125733	ENST00000313285;ENST00000313244;ENST00000420690	T;T	0.73897	-0.79;-0.79	4.78	2.61	0.31194	Src homology-3 domain (1);	0.330581	0.28436	N	0.015351	T	0.58235	0.2108	L	0.34521	1.04	0.24831	N	0.992528	B;B;B	0.32573	0.008;0.376;0.0	B;B;B	0.28465	0.03;0.09;0.0	T	0.50516	-0.8819	10	0.45353	T	0.12	-8.0996	7.6012	0.28077	0.1633:0.7485:0.0:0.0882	.	482;538;482	G5E9U1;Q15642;Q15642-2	.;CIP4_HUMAN;.	L	482;538;482	ENSP00000320493:P482L;ENSP00000320117:P538L	ENSP00000320117:P538L	P	+	2	0	TRIP10	6701600	0.001000	0.12720	0.040000	0.18447	0.504000	0.33889	0.560000	0.23500	0.600000	0.29862	0.313000	0.20887	CCC	TRIP10	-	superfamily_SH3_domain		0.557	TRIP10-003	KNOWN	basic	protein_coding	TRIP10	HGNC	protein_coding	OTTHUMT00000317129.2	C			6750600	+1	no_errors	ENST00000313244	ensembl	human	known	70_37	missense	SNP	0.186	T
TSC2	7249	genome.wustl.edu	37	16	2121565	2121565	+	Missense_Mutation	SNP	C	C	T			TCGA-DS-A3LQ-01A-21D-A21Q-09	TCGA-DS-A3LQ-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2b50946-df37-45fb-b26c-236b264da1fc	be684ac0-dfad-48b1-a133-e2e5873099b4	g.chr16:2121565C>T	ENST00000219476.3	+	18	2524	c.1894C>T	c.(1894-1896)Ccc>Tcc	p.P632S	TSC2_ENST00000382538.6_Missense_Mutation_p.P583S|TSC2_ENST00000568454.1_Missense_Mutation_p.P643S|TSC2_ENST00000401874.2_Missense_Mutation_p.P632S|TSC2_ENST00000350773.4_Missense_Mutation_p.P632S|TSC2_ENST00000439673.2_Missense_Mutation_p.P595S|TSC2_ENST00000353929.4_Missense_Mutation_p.P632S	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	632					acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CCTGGGCCTGCCCAACAAGGA	0.642			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																														yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	tuberous sclerosis 2 gene		"""E, O"""	0													80.0	56.0	64.0					16																	2121565		2198	4299	6497	SO:0001583	missense	7249	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 160"""	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.1894C>T	16.37:g.2121565C>T	ENSP00000219476:p.Pro632Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Missense_Mutation	SNP	pfam_Tuberin-type_domain,pfam_Tuberin_N,pfam_Rap_GAP,superfamily_ARM-type_fold,pfscan_Rap_GAP,prints_Tuberin	p.P632S	ENST00000219476.3	37	c.1894	CCDS10458.1	16	.	.	.	.	.	.	.	.	.	.	C	17.10	3.304184	0.60305	.	.	ENSG00000103197	ENST00000219476;ENST00000401874;ENST00000353929;ENST00000439673;ENST00000382538;ENST00000350773	D;D;D;D;D;D	0.88818	-2.43;-2.43;-2.43;-2.43;-2.43;-2.43	5.45	5.45	0.79879	Tuberin-type domain (1);	0.119861	0.56097	D	0.000023	D	0.84316	0.5445	L	0.42487	1.325	0.51482	D	0.999928	B;B;B;B;B;B	0.27450	0.179;0.031;0.019;0.07;0.041;0.012	B;B;B;B;B;B	0.34931	0.192;0.076;0.05;0.121;0.032;0.019	T	0.77933	-0.2402	10	0.19590	T	0.45	-39.8351	9.129	0.36833	0.0:0.7653:0.1506:0.0841	.	583;595;632;632;632;632	B4DIL8;P49815-6;P49815-4;P49815-3;P49815-5;P49815	.;.;.;.;.;TSC2_HUMAN	S	632;632;632;595;583;632	ENSP00000219476:P632S;ENSP00000384468:P632S;ENSP00000248099:P632S;ENSP00000399232:P595S;ENSP00000371978:P583S;ENSP00000344383:P632S	ENSP00000219476:P632S	P	+	1	0	TSC2	2061566	0.997000	0.39634	1.000000	0.80357	0.994000	0.84299	1.624000	0.37018	2.551000	0.86045	0.462000	0.41574	CCC	TSC2	-	pfam_Tuberin-type_domain		0.642	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TSC2	HGNC	protein_coding	OTTHUMT00000250657.2	C	NM_000548		2121565	+1	no_errors	ENST00000219476	ensembl	human	known	70_37	missense	SNP	1.000	T
TTC39A	22996	genome.wustl.edu	37	1	51767913	51767913	+	Intron	DEL	C	C	-	rs375305601		TCGA-DS-A3LQ-01A-21D-A21Q-09	TCGA-DS-A3LQ-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2b50946-df37-45fb-b26c-236b264da1fc	be684ac0-dfad-48b1-a133-e2e5873099b4	g.chr1:51767913delC	ENST00000447632.2	-	11	1048				TTC39A_ENST00000451380.1_Intron|TTC39A_ENST00000371747.3_Intron|TTC39A_ENST00000371750.5_Intron|TTC39A_ENST00000262676.5_Frame_Shift_Del_p.G368fs|TTC39A_ENST00000413473.2_Intron|TTC39A_ENST00000262675.7_Intron			Q5SRH9	TT39A_HUMAN	tetratricopeptide repeat domain 39A									p.0?(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(2)|prostate(2)|skin(3)|urinary_tract(1)	17						TCTCTCTTGGCCCCCCCCCCG	0.647																																																	2	Whole gene deletion(2)	thyroid(1)|central_nervous_system(1)																																								SO:0001627	intron_variant	22996			AB007921	CCDS44143.1, CCDS44144.1, CCDS72789.1, CCDS72790.1	1p32.3	2013-01-11	2008-06-23	2008-06-23	ENSG00000085831	ENSG00000085831		"""Tetratricopeptide (TTC) repeat domain containing"""	18657	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 34"""	C1orf34		9455484, 9461476	Standard	XM_005270643		Approved	KIAA0452, DEME-6	uc010onf.2	Q5SRH9	OTTHUMG00000008193	ENST00000447632.2:c.999+115G>-	1.37:g.51767913delC		Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z782|E7EQY9|G3XAF8|O43417|O75040|Q5SRH5|Q5SRH6|Q5SRH7|Q5SRH8|Q5SRI0|Q5SRI1|Q5SRI2|Q5T7S1|Q6PIU8|Q9BT24	Frame_Shift_Del	DEL	pfam_OMP_IML2_mit/TPR_39	p.G368fs	ENST00000447632.2	37	c.1103		1																																																																																			TTC39A	-	NULL		0.647	TTC39A-004	KNOWN	basic	protein_coding	TTC39A	HGNC	protein_coding	OTTHUMT00000022434.2	C			51767913	-1	no_errors	ENST00000262676	ensembl	human	known	70_37	frame_shift_del	DEL	0.000	-
TTN	7273	genome.wustl.edu	37	2	179659227	179659227	+	Missense_Mutation	SNP	C	C	T	rs146000949	byFrequency	TCGA-DS-A3LQ-01A-21D-A21Q-09	TCGA-DS-A3LQ-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2b50946-df37-45fb-b26c-236b264da1fc	be684ac0-dfad-48b1-a133-e2e5873099b4	g.chr2:179659227C>T	ENST00000591111.1	-	8	1521	c.1297G>A	c.(1297-1299)Gtt>Att	p.V433I	TTN_ENST00000460472.2_Missense_Mutation_p.V433I|TTN_ENST00000342175.6_Missense_Mutation_p.V433I|TTN_ENST00000359218.5_Missense_Mutation_p.V433I|TTN_ENST00000342992.6_Missense_Mutation_p.V433I|TTN_ENST00000360870.5_Missense_Mutation_p.V433I|TTN_ENST00000589042.1_Missense_Mutation_p.V433I			Q8WZ42	TITIN_HUMAN	titin	0	Ala-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCCATATCAACGGCAGCAACA	0.468													C|||	4	0.000798722	0.0015	0.0	5008	,	,		21043	0.0		0.0	False		,,,				2504	0.002																0								C	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	152.0	138.0	143.0		1297,1297,1297,1297,1297	5.9	1.0	2	dbSNP_134	143	2,8598	3.0+/-9.4	0,2,4298	yes	missense,missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133379.3,NM_133432.3,NM_133437.3	29,29,29,29,29	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	433/26927,433/33424,433/5605,433/27052,433/27119	179659227	3,13003	2203	4300	6503	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.1297G>A	2.37:g.179659227C>T	ENSP00000465570:p.Val433Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.V433I	ENST00000591111.1	37	c.1297		2	.	.	.	.	.	.	.	.	.	.	C	17.10	3.302024	0.60195	2.27E-4	2.33E-4	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870;ENST00000436599	T;T;T;T;T;T	0.59906	0.23;0.23;0.23;0.23;0.23;0.23	5.87	5.87	0.94306	Titin Z (1);Ribonuclease H-like (1);	.	.	.	.	T	0.68329	0.2989	L	0.27053	0.805	0.27860	N	0.940448	D;D;D;D;D	0.89917	0.999;0.999;0.999;0.999;1.0	D;D;D;D;D	0.81914	0.993;0.993;0.993;0.993;0.995	T	0.65203	-0.6225	9	0.87932	D	0	.	19.8296	0.96630	0.0:1.0:0.0:0.0	.	433;433;433;433;433	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	I	433;433;433;433;433;433;29	ENSP00000343764:V433I;ENSP00000434586:V433I;ENSP00000340554:V433I;ENSP00000352154:V433I;ENSP00000354117:V433I;ENSP00000405517:V29I	ENSP00000340554:V433I	V	-	1	0	TTN	179367472	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	6.033000	0.70925	2.780000	0.95670	0.655000	0.94253	GTT	TTN	-	pfam_Titin_Z,superfamily_RNaseH-like_dom		0.468	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179659227	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	0.999	T
TXNIP	10628	genome.wustl.edu	37	1	145440399	145440402	+	Frame_Shift_Del	DEL	ATCA	ATCA	-			TCGA-DS-A3LQ-01A-21D-A21Q-09	TCGA-DS-A3LQ-10A-01D-A21Q-09	ATCA	ATCA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2b50946-df37-45fb-b26c-236b264da1fc	be684ac0-dfad-48b1-a133-e2e5873099b4	g.chr1:145440399_145440402delATCA	ENST00000369317.4	+	5	1039_1042	c.705_708delATCA	c.(703-708)tcatcafs	p.SS235fs	TXNIP_ENST00000475171.1_Intron	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	235					cell cycle (GO:0007049)|cellular response to tumor cell (GO:0071228)|innate immune response (GO:0045087)|keratinocyte differentiation (GO:0030216)|negative regulation of cell division (GO:0051782)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|protein import into nucleus (GO:0006606)|regulation of cell proliferation (GO:0042127)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucose (GO:0009749)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AGAAGTTGTCATCAGTCAGAGGCA	0.525																																																	0																																										SO:0001589	frameshift_variant	10628			S73591	CCDS72876.1	1q11	2008-07-18			ENSG00000117289	ENSG00000265972			16952	protein-coding gene	gene with protein product	"""upregulated by 1,25-dihydroxyvitamin D-3"", ""thioredoxin binding protein 2"""	606599				8086474	Standard	NM_006472		Approved	VDUP1, EST01027, HHCPA78, THIF	uc001enn.4	Q9H3M7	OTTHUMG00000013755	ENST00000369317.4:c.705_708delATCA	1.37:g.145440399_145440402delATCA	ENSP00000358323:p.Ser235fs	Somatic		WXS	Illumina HiSeq	Phase_IV	B4E3D3|Q16226|Q6PML0|Q9BXG9	Frame_Shift_Del	DEL	pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set	p.V237fs	ENST00000369317.4	37	c.705_708	CCDS913.1	1																																																																																			TXNIP	-	pfam_Arrestin_C-like,superfamily_Ig_E-set		0.525	TXNIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TXNIP	HGNC	protein_coding	OTTHUMT00000038547.1	ATCA	NM_006472		145440402	+1	no_errors	ENST00000369317	ensembl	human	known	70_37	frame_shift_del	DEL	0.699:0.919:0.919:0.052	-
ZNF45	7596	genome.wustl.edu	37	19	44418081	44418081	+	Missense_Mutation	SNP	C	C	T			TCGA-DS-A3LQ-01A-21D-A21Q-09	TCGA-DS-A3LQ-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2b50946-df37-45fb-b26c-236b264da1fc	be684ac0-dfad-48b1-a133-e2e5873099b4	g.chr19:44418081C>T	ENST00000269973.5	-	10	2597	c.1507G>A	c.(1507-1509)Gag>Aag	p.E503K	RP11-15A1.2_ENST00000586247.1_RNA|ZNF45_ENST00000589703.1_Missense_Mutation_p.E503K	NM_003425.3	NP_003416.1	Q02386	ZNF45_HUMAN	zinc finger protein 45	503					gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	17						CCACACCTCTCGCATTTATAG	0.488																																																	0													59.0	57.0	57.0					19																	44418081		2203	4300	6503	SO:0001583	missense	7596			M67509	CCDS12632.1	19q13.2	2013-01-08	2005-01-11			ENSG00000124459		"""Zinc fingers, C2H2-type"", ""-"""	13111	protein-coding gene	gene with protein product		194554	"""zinc finger protein 45 (a Kruppel-associated box (KRAB) domain polypeptide)"", ""zinc finger protein 13"""	ZNF13		9067431	Standard	NM_003425		Approved		uc002oxw.2	Q02386		ENST00000269973.5:c.1507G>A	19.37:g.44418081C>T	ENSP00000269973:p.Glu503Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	P17016|P78472|Q9P1U9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E503K	ENST00000269973.5	37	c.1507	CCDS12632.1	19	.	.	.	.	.	.	.	.	.	.	C	7.907	0.735737	0.15574	.	.	ENSG00000124459	ENST00000269973	T	0.06608	3.28	3.61	2.57	0.30868	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.36854	N	0.002365	T	0.03178	0.0093	N	0.21545	0.675	0.09310	N	1	B	0.15141	0.012	B	0.16722	0.016	T	0.48068	-0.9067	10	0.02654	T	1	-11.4975	5.8326	0.18588	0.1952:0.6943:0.0:0.1105	.	503	Q02386	ZNF45_HUMAN	K	503	ENSP00000269973:E503K	ENSP00000269973:E503K	E	-	1	0	ZNF45	49109921	0.000000	0.05858	0.999000	0.59377	0.976000	0.68499	-2.104000	0.01340	2.026000	0.59711	0.455000	0.32223	GAG	ZNF45	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.488	ZNF45-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF45	HGNC	protein_coding	OTTHUMT00000459919.1	C	NM_003425		44418081	-1	no_errors	ENST00000269973	ensembl	human	known	70_37	missense	SNP	0.023	T
ZNF648	127665	genome.wustl.edu	37	1	182025942	182025942	+	Missense_Mutation	SNP	C	C	T			TCGA-DS-A3LQ-01A-21D-A21Q-09	TCGA-DS-A3LQ-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2b50946-df37-45fb-b26c-236b264da1fc	be684ac0-dfad-48b1-a133-e2e5873099b4	g.chr1:182025942C>T	ENST00000339948.3	-	2	1411	c.1204G>A	c.(1204-1206)Gct>Act	p.A402T		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	402					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)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						CTGGCCACAGCGAACTCCCGG	0.701																																					NSCLC(71;908 1374 5429 20458 35642)												0													13.0	15.0	14.0					1																	182025942		2154	4183	6337	SO:0001583	missense	127665			AK128654	CCDS30952.1	1q25.3	2013-01-08			ENSG00000179930	ENSG00000179930		"""Zinc fingers, C2H2-type"""	18190	protein-coding gene	gene with protein product							Standard	NM_001009992		Approved	FLJ46813	uc001goz.3	Q5T619	OTTHUMG00000037302	ENST00000339948.3:c.1204G>A	1.37:g.182025942C>T	ENSP00000344129:p.Ala402Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RP16	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A402T	ENST00000339948.3	37	c.1204	CCDS30952.1	1	.	.	.	.	.	.	.	.	.	.	C	9.056	0.993399	0.19043	.	.	ENSG00000179930	ENST00000339948	T	0.17691	2.26	2.81	0.323	0.15893	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09512	0.0234	L	0.33339	1.005	0.23386	N	0.99779	B	0.19200	0.034	B	0.15052	0.012	T	0.37888	-0.9686	9	0.23302	T	0.38	.	0.5708	0.00695	0.2374:0.3552:0.2128:0.1946	.	402	Q5T619	ZN648_HUMAN	T	402	ENSP00000344129:A402T	ENSP00000344129:A402T	A	-	1	0	ZNF648	180292565	0.002000	0.14202	0.716000	0.30569	0.973000	0.67179	-0.054000	0.11826	0.067000	0.16545	0.561000	0.74099	GCT	ZNF648	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.701	ZNF648-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF648	HGNC	protein_coding	OTTHUMT00000090794.1	C	XM_060597		182025942	-1	no_errors	ENST00000339948	ensembl	human	known	70_37	missense	SNP	0.336	T
ZNF814	730051	genome.wustl.edu	37	19	58385873	58385873	+	Silent	SNP	T	T	C	rs397978905	byFrequency	TCGA-DS-A3LQ-01A-21D-A21Q-09	TCGA-DS-A3LQ-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2b50946-df37-45fb-b26c-236b264da1fc	be684ac0-dfad-48b1-a133-e2e5873099b4	g.chr19:58385873T>C	ENST00000435989.2	-	3	1119	c.885A>G	c.(883-885)aaA>aaG	p.K295K	ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	295					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						CACATTCATGTTTTTTTTCAG	0.358																																																	0													17.0	13.0	14.0					19																	58385873		687	1561	2248	SO:0001819	synonymous_variant	730051				CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.885A>G	19.37:g.58385873T>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NF35	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K295	ENST00000435989.2	37	c.885	CCDS46212.1	19																																																																																			ZNF814	-	pfscan_Znf_C2H2		0.358	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF814	HGNC	protein_coding	OTTHUMT00000466976.1	T	XM_001725708		58385873	-1	no_errors	ENST00000435989	ensembl	human	known	70_37	silent	SNP	0.002	C
