#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ENSG_ID	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ens_Gene	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GMAF	i_HGNC	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_Normal_Alt_Count	i_Normal_Ref_Count	i_Normal_VAF	i_ORegAnno_bin	i_PurityEst	i_RNA_Tum_Ref_count	i_RNA_Tum_VAF	i_RNA_Tum_Var_count	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_Tier	i_Tumor_Alt_Count	i_Tumor_Ref_Count	i_Tumor_VAF	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_WGS_Norm_Ref_count	i_WGS_Norm_VAF	i_WGS_Norm_Var_count	i_WGS_Tum_Ref_count	i_WGS_Tum_VAF	i_WGS_Tum_Var_count	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_deletion_substructures	i_domain	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_rs_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
JAM3	83700	genome.wustl.edu	37	11	133938975	133938975	+	5'UTR	SNP	C	C	T	rs572472879		TCGA-MJ-A68J-01A-11D-A307-09	TCGA-MJ-A68J-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a0148d-ddbb-4cc7-9594-d3e6d2b2bf4a	8d0ec126-55e3-413c-bf42-fbaf91347ed4	g.chr11:133938975C>T	ENST00000299106.4	+	0	156				JAM3_ENST00000441717.3_5'UTR|JAM3_ENST00000529443.2_Silent_p.L44L			Q9BX67	JAM3_HUMAN	junctional adhesion molecule 3						adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|establishment of cell polarity (GO:0030010)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|myelination (GO:0042552)|myeloid progenitor cell differentiation (GO:0002318)|neutrophil homeostasis (GO:0001780)|regulation of actin cytoskeleton organization by cell-cell adhesion (GO:0090138)|regulation of neutrophil chemotaxis (GO:0090022)|spermatid development (GO:0007286)|transmission of nerve impulse (GO:0019226)	cell-cell contact zone (GO:0044291)|desmosome (GO:0030057)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|paranodal junction (GO:0033010)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	integrin binding (GO:0005178)			breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)	10	all_hematologic(175;0.127)	all_cancers(12;1.06e-21)|all_epithelial(12;3.37e-16)|all_lung(97;7.03e-06)|Lung NSC(97;1.67e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0506)|Esophageal squamous(93;0.0566)		Epithelial(10;1.55e-09)|BRCA - Breast invasive adenocarcinoma(10;1.35e-08)|all cancers(11;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00402)|Lung(977;0.245)		CAGCAACCCTCGACATGGCGC	0.697													C|||	1	0.000199681	0.0	0.0014	5008	,	,		12468	0.0		0.0	False		,,,				2504	0.0																0								ENSG00000166086						12.0	13.0	13.0					11																	133938975		2166	4214	6380	JAM3	SO:0001623	5_prime_UTR_variant	0			-	HGNC	AF356518	CCDS8494.1, CCDS55799.1, CCDS8494.2	11q25	2013-01-29			ENSG00000166086	ENSG00000166086		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15532	protein-coding gene	gene with protein product		606871					Standard	NM_032801		Approved	JAM-C, JAMC	uc001qhb.3	Q9BX67	OTTHUMG00000167130	ENST00000299106.4:c.-4C>T	11.37:g.133938975C>T		Somatic	0	56	0.00		0.5865840266559299	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	49	34.67	B3KWG9|Q8WWL8|Q96FL1	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.L44	ENST00000299106.4	37	c.132	CCDS8494.2	11	.	.	.	.	.	.	.	.	.	.	C	11.61	1.688940	0.29962	.	.	ENSG00000166086	ENST00000534549;ENST00000531698;ENST00000529443	.	.	.	5.18	2.24	0.28232	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.1943	0.10437	0.1619:0.5946:0.1564:0.0871	.	.	.	.	X	4	.	.	R	+	1	2	JAM3	133444185	0.459000	0.25768	0.610000	0.28997	0.783000	0.44284	-0.199000	0.09491	0.182000	0.20032	0.404000	0.27445	CGA	-	NULL		0.697	JAM3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	JAM3	protein_coding	OTTHUMT00000393303.4	C	NM_032801	-		133938975	+1	no_errors	ENST00000529443	ensembl	human	known	74_37	silent	SNP	0.947	T
C2orf16	84226	genome.wustl.edu	37	2	27804402	27804402	+	Missense_Mutation	SNP	C	C	A			TCGA-MJ-A68J-01A-11D-A307-09	TCGA-MJ-A68J-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a0148d-ddbb-4cc7-9594-d3e6d2b2bf4a	8d0ec126-55e3-413c-bf42-fbaf91347ed4	g.chr2:27804402C>A	ENST00000408964.2	+	1	5014	c.4963C>A	c.(4963-4965)Cgc>Agc	p.R1655S	ZNF512_ENST00000355467.4_5'Flank|ZNF512_ENST00000379717.1_5'Flank|AC074091.1_ENST00000408604.1_RNA|RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000413371.2_5'Flank|ZNF512_ENST00000416005.2_5'Flank|ZNF512_ENST00000556601.1_5'Flank	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1655	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.					extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					GAGAAGCCATCGCAGTCCCTC	0.577																																																	0								ENSG00000221843						161.0	162.0	161.0					2																	27804402		1897	4121	6018	C2orf16	SO:0001583	missense	0			-	HGNC	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.4963C>A	2.37:g.27804402C>A	ENSP00000386190:p.Arg1655Ser	Somatic	0	201	0.00		0.5865840266559299	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	67	135	33.17	B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.R1655S	ENST00000408964.2	37	c.4963	CCDS42666.1	2	.	.	.	.	.	.	.	.	.	.	C	12.69	2.012158	0.35511	.	.	ENSG00000221843	ENST00000408964	T	0.05025	3.51	3.39	1.51	0.23008	.	.	.	.	.	T	0.07188	0.0182	L	0.56769	1.78	0.09310	N	1	B	0.21147	0.052	B	0.19946	0.027	T	0.31943	-0.9925	9	0.34782	T	0.22	.	5.6296	0.17504	0.1991:0.684:0.0:0.1169	.	1655	Q68DN1	CB016_HUMAN	S	1655	ENSP00000386190:R1655S	ENSP00000386190:R1655S	R	+	1	0	C2orf16	27657906	0.000000	0.05858	0.001000	0.08648	0.124000	0.20399	-0.484000	0.06528	0.725000	0.32318	0.313000	0.20887	CGC	-	NULL		0.577	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf16	protein_coding	OTTHUMT00000353292.1	C	NM_032266	-		27804402	+1	no_errors	ENST00000408964	ensembl	human	known	74_37	missense	SNP	0.001	A
CASZ1	54897	genome.wustl.edu	37	1	10699141	10699146	+	In_Frame_Del	DEL	TCGTCG	TCGTCG	-	rs201089181	byFrequency	TCGA-MJ-A68J-01A-11D-A307-09	TCGA-MJ-A68J-10A-01D-A307-09	TCGTCG	TCGTCG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a0148d-ddbb-4cc7-9594-d3e6d2b2bf4a	8d0ec126-55e3-413c-bf42-fbaf91347ed4	g.chr1:10699141_10699146delTCGTCG	ENST00000377022.3	-	21	5450_5455	c.5133_5138delCGACGA	c.(5131-5139)gacgacgag>gag	p.DD1711del	RP4-734G22.3_ENST00000606802.1_RNA	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	1711	Asp-rich.|Glu-rich.				multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.D1711_D1712delDD(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		GCGCAGgtcctcgtcgtcgtcgtcct	0.752														356	0.0710863	0.0696	0.036	5008	,	,		2110	0.0804		0.0348	False		,,,				2504	0.1258																1	Deletion - In frame(1)	large_intestine(1)						ENSG00000130940			213,13,2916		50,0,113,2,9,1397						3.1	1.0		dbSNP_131	3	215,29,6202		36,0,143,0,29,3015	no	codingComplex	CASZ1	NM_001079843.1		86,0,256,2,38,4412	A1A1,A1A2,A1R,A2A2,A2R,RR		3.7853,7.1929,4.902				428,42,9118				CASZ1	SO:0001651	inframe_deletion	0				HGNC	AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"""Zinc fingers, C2H2-type"""	26002	protein-coding gene	gene with protein product	"""zinc finger protein 693"", ""survival related gene"""	609895	"""castor homolog 1, zinc finger (Drosophila)"""			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.5133_5138delCGACGA	1.37:g.10699147_10699152delTCGTCG	ENSP00000366221:p.Asp1711_Asp1712del	Somatic	NA	NA	NA		0.5865840266559299	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	In_Frame_Del	DEL	NA	NA	NA	NA	NA	NA	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.DD1711in_frame_del	ENST00000377022.3	37	c.5138_5133	CCDS41246.1	1																																																																																			-	NULL		0.752	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CASZ1	protein_coding	OTTHUMT00000005673.2	TCGTCG	NM_017766			10699146	-1	no_errors	ENST00000377022	ensembl	human	known	74_37	in_frame_del	DEL	1.000:1.000:1.000:1.000:0.995:0.863	-
SPG11	80208	genome.wustl.edu	37	15	44876519	44876519	+	Missense_Mutation	SNP	C	C	A			TCGA-MJ-A68J-01A-11D-A307-09	TCGA-MJ-A68J-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a0148d-ddbb-4cc7-9594-d3e6d2b2bf4a	8d0ec126-55e3-413c-bf42-fbaf91347ed4	g.chr15:44876519C>A	ENST00000261866.7	-	30	5375	c.5359G>T	c.(5359-5361)Gac>Tac	p.D1787Y	SPG11_ENST00000558253.1_5'Flank|SPG11_ENST00000558319.1_Missense_Mutation_p.D1787Y|SPG11_ENST00000427534.2_Missense_Mutation_p.D1787Y|SPG11_ENST00000535302.2_Missense_Mutation_p.D1787Y	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	1787					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		GGCACCACGTCCTCCTGGGCA	0.597																																																	0								ENSG00000104133						45.0	46.0	46.0					15																	44876519		2198	4298	6496	SPG11	SO:0001583	missense	0			-	HGNC		CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"""spatacsin"""	610844	"""KIAA1840"""	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.5359G>T	15.37:g.44876519C>A	ENSP00000261866:p.Asp1787Tyr	Somatic	0	67	0.00		0.5865840266559299	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	39	39.06	A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.D1787Y	ENST00000261866.7	37	c.5359	CCDS10112.1	15	.	.	.	.	.	.	.	.	.	.	C	14.58	2.576487	0.45902	.	.	ENSG00000104133	ENST00000261866;ENST00000535302;ENST00000427534	T;T;T	0.78126	-1.15;-0.89;-0.89	5.95	5.03	0.67393	.	0.413086	0.26680	N	0.023051	T	0.81564	0.4849	M	0.62723	1.935	0.22684	N	0.998859	P;D;P;P	0.56287	0.955;0.975;0.955;0.955	P;P;P;P	0.56514	0.73;0.8;0.73;0.73	T	0.72915	-0.4147	10	0.34782	T	0.22	.	10.4437	0.44481	0.0:0.6796:0.2537:0.0667	.	1787;1787;1787;1787	C4B7M2;F5H3N6;C4B7M4;Q96JI7	.;.;.;SPTCS_HUMAN	Y	1787	ENSP00000261866:D1787Y;ENSP00000445278:D1787Y;ENSP00000396110:D1787Y	ENSP00000261866:D1787Y	D	-	1	0	SPG11	42663811	0.000000	0.05858	0.130000	0.21974	0.381000	0.30169	1.087000	0.30865	1.520000	0.48965	0.563000	0.77884	GAC	-	NULL		0.597	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPG11	protein_coding	OTTHUMT00000253927.1	C		-		44876519	-1	no_errors	ENST00000261866	ensembl	human	known	74_37	missense	SNP	0.009	A
TBC1D12	23232	genome.wustl.edu	37	10	96292870	96292870	+	3'UTR	SNP	A	A	T			TCGA-MJ-A68J-01A-11D-A307-09	TCGA-MJ-A68J-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a0148d-ddbb-4cc7-9594-d3e6d2b2bf4a	8d0ec126-55e3-413c-bf42-fbaf91347ed4	g.chr10:96292870A>T	ENST00000225235.4	+	0	2455				TBC1D12_ENST00000485048.1_3'UTR	NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN	TBC1 domain family, member 12								Rab GTPase activator activity (GO:0005097)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				AAATTGACAGACTAACTGACA	0.333																																																	0								ENSG00000108239						46.0	40.0	42.0					10																	96292870		1802	4068	5870	TBC1D12	SO:0001624	3_prime_UTR_variant	0			-	HGNC	AB011180	CCDS41553.1	10q23.33	2013-09-20			ENSG00000108239	ENSG00000108239			29082	protein-coding gene	gene with protein product						9628581	Standard	NM_015188		Approved	KIAA0608	uc001kjr.2	O60347	OTTHUMG00000018794	ENST00000225235.4:c.*17A>T	10.37:g.96292870A>T		Somatic	0	65	0.00		0.5865840266559299	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	43	38.57	Q5VYA6|Q8WX26|Q8WX59|Q9UG83	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000225235.4	37	NULL	CCDS41553.1	10																																																																																			-	-		0.333	TBC1D12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D12	protein_coding	OTTHUMT00000049482.2	A		-		96292870	+1	no_errors	ENST00000485048	ensembl	human	known	74_37	rna	SNP	0.007	T
TUBGCP5	114791	genome.wustl.edu	37	15	22853761	22853761	+	Missense_Mutation	SNP	G	G	C			TCGA-MJ-A68J-01A-11D-A307-09	TCGA-MJ-A68J-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a0148d-ddbb-4cc7-9594-d3e6d2b2bf4a	8d0ec126-55e3-413c-bf42-fbaf91347ed4	g.chr15:22853761G>C	ENST00000283645.4	+	12	1529	c.1399G>C	c.(1399-1401)Gaa>Caa	p.E467Q	TUBGCP5_ENST00000453949.2_Missense_Mutation_p.E467Q|TUBGCP5_ENST00000559846.1_3'UTR	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	467					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gamma-tubulin ring complex (GO:0008274)|microtubule (GO:0005874)|nucleus (GO:0005634)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		TCTCTGGGTGGAAACGGTGCG	0.572																																																	0								ENSG00000153575						75.0	63.0	67.0					15																	22853761		2203	4300	6503	TUBGCP5	SO:0001583	missense	0			-	HGNC	AB067486	CCDS73697.1, CCDS73698.1	15q11.1	2014-04-17			ENSG00000153575	ENSG00000275835			18600	protein-coding gene	gene with protein product	"""gamma-tubulin complex component GCP5"""	608147				11694571	Standard	NM_052903		Approved	GCP5, KIAA1899	uc001yur.4	Q96RT8	OTTHUMG00000188371	ENST00000283645.4:c.1399G>C	15.37:g.22853761G>C	ENSP00000283645:p.Glu467Gln	Somatic	0	99	0.00		0.5865840266559299	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	55	36.05	E9PB12|Q6IQ52|Q96PY8	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_TUBGCP	p.E467Q	ENST00000283645.4	37	c.1399	CCDS10008.1	15	.	.	.	.	.	.	.	.	.	.	.	19.24	3.788509	0.70337	.	.	ENSG00000153575	ENST00000283645;ENST00000453949	T;T	0.07800	3.16;3.16	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.22244	0.0536	L	0.45581	1.43	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.71184	0.972;0.972;0.972	T	0.02313	-1.1178	10	0.16420	T	0.52	-23.3421	19.6322	0.95713	0.0:0.0:1.0:0.0	.	467;467;467	A8K1E4;Q96RT8;E9PB12	.;GCP5_HUMAN;.	Q	467	ENSP00000283645:E467Q;ENSP00000409217:E467Q	ENSP00000283645:E467Q	E	+	1	0	TUBGCP5	20405202	1.000000	0.71417	0.997000	0.53966	0.257000	0.26127	9.231000	0.95317	2.652000	0.90054	0.655000	0.94253	GAA	-	pfam_TUBGCP		0.572	TUBGCP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBGCP5	protein_coding	OTTHUMT00000250998.2	G	NM_052903	-		22853761	+1	no_errors	ENST00000283645	ensembl	human	known	74_37	missense	SNP	1.000	C
ATM	472	genome.wustl.edu	37	11	108119792	108119792	+	Missense_Mutation	SNP	C	C	A			TCGA-MJ-A68J-01A-11D-A307-09	TCGA-MJ-A68J-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a0148d-ddbb-4cc7-9594-d3e6d2b2bf4a	8d0ec126-55e3-413c-bf42-fbaf91347ed4	g.chr11:108119792C>A	ENST00000452508.2	+	10	1387	c.1198C>A	c.(1198-1200)Ctt>Att	p.L400I	ATM_ENST00000278616.4_Missense_Mutation_p.L400I			Q13315	ATM_HUMAN	ATM serine/threonine kinase	400					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	AAAAGATCACCTTCAGAAGTC	0.338			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																													yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"""L, O"""	0								ENSG00000149311						132.0	127.0	129.0					11																	108119792		2201	4298	6499	ATM	SO:0001583	missense	0	Familial Cancer Database	AT, Louis-Bar syndrome	-	HGNC	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.1198C>A	11.37:g.108119792C>A	ENSP00000388058:p.Leu400Ile	Somatic	0	72	0.00		0.5865840266559299	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	66	29.03	B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.L400I	ENST00000452508.2	37	c.1198	CCDS31669.1	11	.	.	.	.	.	.	.	.	.	.	C	18.77	3.695810	0.68386	.	.	ENSG00000149311	ENST00000527805;ENST00000278616;ENST00000452508	T;T;T	0.02763	4.17;4.63;4.63	5.07	5.07	0.68467	Armadillo-type fold (1);	0.000000	0.64402	D	0.000001	T	0.04272	0.0118	L	0.55834	1.745	0.53688	D	0.999976	P	0.48294	0.908	B	0.37692	0.256	T	0.58470	-0.7631	10	0.21014	T	0.42	.	18.4131	0.90559	0.0:1.0:0.0:0.0	.	400	Q13315	ATM_HUMAN	I	400	ENSP00000435747:L400I;ENSP00000278616:L400I;ENSP00000388058:L400I	ENSP00000278616:L400I	L	+	1	0	ATM	107625002	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.358000	0.52284	2.499000	0.84300	0.563000	0.77884	CTT	-	superfamily_ARM-type_fold		0.338	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ATM	protein_coding	OTTHUMT00000389938.1	C	NM_000051	-		108119792	+1	no_errors	ENST00000278616	ensembl	human	known	74_37	missense	SNP	1.000	A
SYT2	127833	genome.wustl.edu	37	1	202571629	202571629	+	Missense_Mutation	SNP	G	G	C			TCGA-MJ-A68J-01A-11D-A307-09	TCGA-MJ-A68J-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a0148d-ddbb-4cc7-9594-d3e6d2b2bf4a	8d0ec126-55e3-413c-bf42-fbaf91347ed4	g.chr1:202571629G>C	ENST00000367267.1	-	5	702	c.510C>G	c.(508-510)gaC>gaG	p.D170E	RP11-569A11.1_ENST00000428573.1_RNA|SYT2_ENST00000367268.4_Missense_Mutation_p.D170E	NM_001136504.1	NP_001129976.1	Q8N9I0	SYT2_HUMAN	synaptotagmin II	170	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.|Phospholipid binding. {ECO:0000250}.				neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|endocytic vesicle membrane (GO:0030666)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|transporter activity (GO:0005215)			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	29			BRCA - Breast invasive adenocarcinoma(75;0.169)		Botulinum Toxin Type B(DB00042)	TGCCTCCCATGTCCAGGGCAG	0.542																																																	0								ENSG00000143858						89.0	84.0	86.0					1																	202571629		2203	4300	6503	SYT2	SO:0001583	missense	0			-	HGNC	AK090672	CCDS1427.1	1q32.1	2013-01-21			ENSG00000143858	ENSG00000143858		"""Synaptotagmins"""	11510	protein-coding gene	gene with protein product		600104				7749232	Standard	NM_177402		Approved		uc010pqb.2	Q8N9I0	OTTHUMG00000041388	ENST00000367267.1:c.510C>G	1.37:g.202571629G>C	ENSP00000356236:p.Asp170Glu	Somatic	0	71	0.00		0.5865840266559299	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	35	40.00	Q496K5|Q8NBE5	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin,prints_C2_dom	p.D170E	ENST00000367267.1	37	c.510	CCDS1427.1	1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.279142	0.80692	.	.	ENSG00000143858	ENST00000367268;ENST00000367267	T;T	0.74421	-0.84;-0.84	5.58	4.67	0.58626	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);Synaptotagmin (1);	0.000000	0.85682	D	0.000000	D	0.83866	0.5347	M	0.85299	2.745	0.58432	D	0.999999	P	0.45474	0.859	P	0.55577	0.779	D	0.85776	0.1358	10	0.87932	D	0	.	11.0973	0.48152	0.1501:0.0:0.8499:0.0	.	170	Q8N9I0	SYT2_HUMAN	E	170	ENSP00000356237:D170E;ENSP00000356236:D170E	ENSP00000356236:D170E	D	-	3	2	SYT2	200838252	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.925000	0.48884	1.362000	0.46000	0.655000	0.94253	GAC	-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin		0.542	SYT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SYT2	protein_coding	OTTHUMT00000099157.1	G	NM_177402	-		202571629	-1	no_errors	ENST00000367267	ensembl	human	known	74_37	missense	SNP	1.000	C
ANKLE1	126549	genome.wustl.edu	37	19	17397486	17397501	+	3'UTR	DEL	TGTGTGTGTGTGTGTT	TGTGTGTGTGTGTGTT	-	rs534658778|rs576892988|rs371454519|rs563327402|rs1465582|rs56209027|rs71180380	byFrequency	TCGA-MJ-A68J-01A-11D-A307-09	TCGA-MJ-A68J-10A-01D-A307-09	TGTGTGTGTGTGTGTT	TGTGTGTGTGTGTGTT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a0148d-ddbb-4cc7-9594-d3e6d2b2bf4a	8d0ec126-55e3-413c-bf42-fbaf91347ed4	g.chr19:17397486_17397501delTGTGTGTGTGTGTGTT	ENST00000394458.3	+	0	2249_2264				ANKLE1_ENST00000404085.1_3'UTR|ANKLE1_ENST00000594072.1_3'UTR|ANKLE1_ENST00000598347.1_Frame_Shift_Del_p.CVCVCL586fs	NM_152363.4	NP_689576	Q8NAG6	ANKL1_HUMAN	ankyrin repeat and LEM domain containing 1											large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						tgtgtgtgtgtgtgtgtgtgtgtgtttgtgtgtgtg	0.528																																																	0								ENSG00000160117																																			ANKLE1	SO:0001624	3_prime_UTR_variant	0				HGNC	AK096688	CCDS12354.2, CCDS12354.3	19p13.11	2013-01-10	2008-03-25	2008-03-25	ENSG00000160117	ENSG00000160117		"""Ankyrin repeat domain containing"""	26812	protein-coding gene	gene with protein product	"""LEM domain containing 6"""		"""ankyrin repeat domain 41"""	ANKRD41			Standard	NM_152363		Approved	FLJ39369, LEMD6	uc002nga.2	Q8NAG6	OTTHUMG00000150839	ENST00000394458.3:c.*140TGTGTGTGTGTGTGTT>-	19.37:g.17397486_17397501delTGTGTGTGTGTGTGTT		Somatic	NA	NA	NA		0.5865840266559299	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	A8VU82|Q8N8J8	Frame_Shift_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Lactate_DH/Glyco_Ohase_4_C,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.C590fs	ENST00000394458.3	37	c.1756_1771	CCDS12354.2	19																																																																																			-	NULL		0.528	ANKLE1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKLE1	protein_coding	OTTHUMT00000325392.2	TGTGTGTGTGTGTGTT	NM_152363			17397501	+1	no_errors	ENST00000598347	ensembl	human	putative	74_37	frame_shift_del	DEL	0.820:0.697:0.344:0.098:0.082:0.071:0.072:0.077:0.073:0.072:0.083:0.085:0.079:0.064:0.026:0.004	-
SLC27A6	28965	genome.wustl.edu	37	5	128302184	128302184	+	Silent	SNP	C	C	T			TCGA-MJ-A68J-01A-11D-A307-09	TCGA-MJ-A68J-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a0148d-ddbb-4cc7-9594-d3e6d2b2bf4a	8d0ec126-55e3-413c-bf42-fbaf91347ed4	g.chr5:128302184C>T	ENST00000262462.4	+	1	1364	c.354C>T	c.(352-354)ttC>ttT	p.F118F	SLC27A6_ENST00000395266.1_Silent_p.F118F|SLC27A6_ENST00000506176.1_Silent_p.F118F			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	118					long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|transmembrane transport (GO:0055085)|very long-chain fatty acid metabolic process (GO:0000038)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		AGCCGGACTTCGTTCACGTGT	0.567																																																	0								ENSG00000113396						82.0	62.0	69.0					5																	128302184		2203	4300	6503	SLC27A6	SO:0001819	synonymous_variant	0			-	HGNC	AF064254	CCDS4145.1	5q23.3	2013-05-22			ENSG00000113396	ENSG00000113396		"""Acyl-CoA synthetase family"", ""Solute carriers"""	11000	protein-coding gene	gene with protein product	"""fatty-acid-Coenzyme A ligase, very long-chain 2"""	604196				12556534, 10479480	Standard	XM_005271967		Approved	FATP6, VLCS-H1, FACVL2, ACSVL2	uc003kuy.3	Q9Y2P4	OTTHUMG00000128991	ENST00000262462.4:c.354C>T	5.37:g.128302184C>T		Somatic	0	126	0.00		0.5865840266559299	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	38	93	29.01	Q6IAM5|Q7Z6E6|Q86YF6	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_AMP-dep_Synth/Lig	p.F118	ENST00000262462.4	37	c.354	CCDS4145.1	5																																																																																			-	pfam_AMP-dep_Synth/Lig		0.567	SLC27A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC27A6	protein_coding	OTTHUMT00000250980.1	C	NM_014031	-		128302184	+1	no_errors	ENST00000262462	ensembl	human	known	74_37	silent	SNP	0.886	T
STMND1	401236	genome.wustl.edu	37	6	17120900	17120900	+	Missense_Mutation	SNP	T	T	A			TCGA-MJ-A68J-01A-11D-A307-09	TCGA-MJ-A68J-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a0148d-ddbb-4cc7-9594-d3e6d2b2bf4a	8d0ec126-55e3-413c-bf42-fbaf91347ed4	g.chr6:17120900T>A	ENST00000536551.1	+	3	322	c.322T>A	c.(322-324)Tca>Aca	p.S108T		NM_001190766.1	NP_001177695.1	H3BQB6	STMD1_HUMAN	stathmin domain containing 1	108					regulation of microtubule polymerization or depolymerization (GO:0031110)												GCGACAGAAGTCATCAGATAT	0.358																																																	0								ENSG00000230873																																			STMND1	SO:0001583	missense	0			-	HGNC	AK026805	CCDS58997.1	6p22.3	2012-12-11			ENSG00000230873	ENSG00000230873			44668	protein-coding gene	gene with protein product							Standard	NM_001190766		Approved	FLJ23152	uc021ymc.1	H3BQB6	OTTHUMG00000014304	ENST00000536551.1:c.322T>A	6.37:g.17120900T>A	ENSP00000455698:p.Ser108Thr	Somatic	0	55	0.00		0.5865840266559299	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	43	33.85		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Stathmin_fam,superfamily_Stathmin_fam	p.S108T	ENST00000536551.1	37	c.322	CCDS58997.1	6																																																																																			-	NULL		0.358	STMND1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	STMND1	protein_coding		T	NM_001190766	-		17120900	+1	no_errors	ENST00000536551	ensembl	human	known	74_37	missense	SNP	1.000	A
OR6C76	390326	genome.wustl.edu	37	12	55820132	55820132	+	Missense_Mutation	SNP	C	C	T			TCGA-MJ-A68J-01A-11D-A307-09	TCGA-MJ-A68J-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a0148d-ddbb-4cc7-9594-d3e6d2b2bf4a	8d0ec126-55e3-413c-bf42-fbaf91347ed4	g.chr12:55820132C>T	ENST00000328314.3	+	1	95	c.95C>T	c.(94-96)aCg>aTg	p.T32M		NM_001005183.1	NP_001005183.1	A6NM76	O6C76_HUMAN	olfactory receptor, family 6, subfamily C, member 76	32						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CTATTTCTTACGTATGTACTG	0.423																																																	0								ENSG00000185821						176.0	169.0	171.0					12																	55820132		2203	4300	6503	OR6C76	SO:0001583	missense	0			-	HGNC		CCDS31823.1	12q13.2	2013-09-23			ENSG00000185821	ENSG00000185821		"""GPCR / Class A : Olfactory receptors"""	31305	protein-coding gene	gene with protein product							Standard	NM_001005183		Approved		uc010spm.2	A6NM76	OTTHUMG00000169956	ENST00000328314.3:c.95C>T	12.37:g.55820132C>T	ENSP00000328402:p.Thr32Met	Somatic	0	147	0.00		0.5865840266559299	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	40	96	29.41		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.T32M	ENST00000328314.3	37	c.95	CCDS31823.1	12	.	.	.	.	.	.	.	.	.	.	c	13.83	2.352890	0.41700	.	.	ENSG00000185821	ENST00000328314	T	0.00509	6.91	4.35	2.36	0.29203	.	0.000000	0.43919	U	0.000511	T	0.00384	0.0012	N	0.16201	0.385	0.09310	N	1	D	0.61080	0.989	P	0.51355	0.667	T	0.56768	-0.7924	10	0.72032	D	0.01	.	2.5527	0.04752	0.2117:0.454:0.0:0.3343	.	32	A6NM76	O6C76_HUMAN	M	32	ENSP00000328402:T32M	ENSP00000328402:T32M	T	+	2	0	OR6C76	54106399	0.000000	0.05858	0.006000	0.13384	0.009000	0.06853	-0.931000	0.03967	1.174000	0.42811	0.598000	0.82781	ACG	-	prints_GPCR_Rhodpsn		0.423	OR6C76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6C76	protein_coding	OTTHUMT00000406675.1	C	NM_001005183	-		55820132	+1	no_errors	ENST00000328314	ensembl	human	known	74_37	missense	SNP	0.001	T
ABCC6	368	genome.wustl.edu	37	16	16248796	16248796	+	Silent	SNP	G	G	A			TCGA-MJ-A68J-01A-11D-A307-09	TCGA-MJ-A68J-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a0148d-ddbb-4cc7-9594-d3e6d2b2bf4a	8d0ec126-55e3-413c-bf42-fbaf91347ed4	g.chr16:16248796G>A	ENST00000205557.7	-	28	4004	c.3975C>T	c.(3973-3975)atC>atT	p.I1325I		NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	1325	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)	Cisplatin(DB00515)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Etoposide(DB00773)|Indomethacin(DB00328)|Probenecid(DB01032)|Sulfinpyrazone(DB01138)|Teniposide(DB00444)|Vinblastine(DB00570)	GGACCCCGTCGATCCAGATCC	0.682																																																	0								ENSG00000091262						26.0	23.0	24.0					16																	16248796		2197	4298	6495	ABCC6	SO:0001819	synonymous_variant	0			-	HGNC	AF076622	CCDS10568.1, CCDS58430.1	16p13.11	2013-01-08			ENSG00000091262	ENSG00000091262		"""ATP binding cassette transporters / subfamily C"""	57	protein-coding gene	gene with protein product		603234	"""pseudoxanthoma elasticum"""	ARA, PXE		9721217, 11439001	Standard	NM_001079528		Approved	MRP6, EST349056, MLP1, URG7	uc002den.4	O95255	OTTHUMG00000129967	ENST00000205557.7:c.3975C>T	16.37:g.16248796G>A		Somatic	0	149	0.00		0.5865840266559299	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	47	111	29.75	A2RRN8|A8KIG6|A8Y988|E7ESW8|P78420|Q8TCY8|Q9UMZ7	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc	p.I1325	ENST00000205557.7	37	c.3975	CCDS10568.1	16																																																																																			-	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Multidrug-R_assoc		0.682	ABCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC6	protein_coding	OTTHUMT00000252232.2	G		-		16248796	-1	no_errors	ENST00000205557	ensembl	human	known	74_37	silent	SNP	0.995	A
NDUFA9	4704	genome.wustl.edu	37	12	4794301	4794302	+	Intron	INS	-	-	A	rs374564173|rs546384604	byFrequency	TCGA-MJ-A68J-01A-11D-A307-09	TCGA-MJ-A68J-10A-01D-A307-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a0148d-ddbb-4cc7-9594-d3e6d2b2bf4a	8d0ec126-55e3-413c-bf42-fbaf91347ed4	g.chr12:4794301_4794302insA	ENST00000266544.5	+	10	916				NDUFA9_ENST00000540688.1_Frame_Shift_Ins_p.LK17fs|RP11-234B24.6_ENST00000544741.2_Intron	NM_005002.4	NP_004993.1	Q16795	NDUA9_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|sodium ion transport (GO:0006814)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747)|nucleus (GO:0005634)	coenzyme binding (GO:0050662)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|NADH dehydrogenase activity (GO:0003954)|protein complex binding (GO:0032403)			NS(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21						GTTATTTTCTTAAAAAAAAAAA	0.46																																					Colon(75;996 1244 23946 25294 29232)												0								ENSG00000139180																																			NDUFA9	SO:0001627	intron_variant	0				HGNC	AF050641	CCDS8532.1	12p13.3	2011-09-14	2002-08-29		ENSG00000139180	ENSG00000139180		"""Mitochondrial respiratory chain complex / Complex I"", ""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	7693	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 22E, member 1"", ""complex I 39kDa subunit"""	603834	"""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9 (39kD)"""	NDUFS2L		8486360, 19027726	Standard	NM_005002		Approved	SDR22E1, CI-39k	uc001qnc.3	Q16795		ENST00000266544.5:c.897-123->A	12.37:g.4794312_4794312dupA		Somatic	0	27	0.00		0.5865840266559299	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	25	10.71	Q14076|Q2NKX0	Frame_Shift_Ins	INS	NA	NA	NA	NA	NA	NA	NULL	p.K21fs	ENST00000266544.5	37	c.50_51	CCDS8532.1	12																																																																																			-	NULL		0.460	NDUFA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDUFA9	protein_coding	OTTHUMT00000398900.2	-	NM_005002			4794302	+1	no_errors	ENST00000540688	ensembl	human	putative	74_37	frame_shift_ins	INS	0.000:0.000	A
TTC3	7267	genome.wustl.edu	37	21	38463868	38463869	+	Intron	INS	-	-	TTATTTAT	rs138290419|rs56149628|rs147677870	byFrequency	TCGA-MJ-A68J-01A-11D-A307-09	TCGA-MJ-A68J-10A-01D-A307-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a0148d-ddbb-4cc7-9594-d3e6d2b2bf4a	8d0ec126-55e3-413c-bf42-fbaf91347ed4	g.chr21:38463868_38463869insTTATTTAT	ENST00000399017.2	+	7	3348				TTC3_ENST00000354749.2_Intron|TTC3_ENST00000399010.1_Intron|TTC3_ENST00000540756.1_Intron|TTC3_ENST00000355666.1_Intron|TTC3_ENST00000479930.1_Intron	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3						negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				tcttttttttattatttattta	0.302																																					Ovarian(38;194 1649 35661)												0								ENSG00000182670																																			TTC3	SO:0001627	intron_variant	0				HGNC	D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"""RING-type (C3HC4) zinc fingers"", ""Tetratricopeptide (TTC) repeat domain containing"""	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.601+155->TTATTTAT	21.37:g.38463869_38463876dupTTATTTAT		Somatic	NA	NA	NA		0.5865840266559299	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	RNA	INS	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000399017.2	37	NULL	CCDS13651.1	21																																																																																			-	-		0.302	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC3	protein_coding	OTTHUMT00000194776.1	-				38463869	+1	no_errors	ENST00000484047	ensembl	human	known	74_37	rna	INS	0.001:0.000	TTATTTAT
KRTAP22-2	100288287	genome.wustl.edu	37	21	31962669	31962669	+	Missense_Mutation	SNP	C	C	A			TCGA-MJ-A68J-01A-11D-A307-09	TCGA-MJ-A68J-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a0148d-ddbb-4cc7-9594-d3e6d2b2bf4a	8d0ec126-55e3-413c-bf42-fbaf91347ed4	g.chr21:31962669C>A	ENST00000382830.2	-	1	47	c.25G>T	c.(25-27)Ggt>Tgt	p.G9C	KRTAP6-3_ENST00000391624.1_5'Flank	NM_001164434.1	NP_001157906.1	Q3LI68	KR222_HUMAN	keratin associated protein 22-2	9						intermediate filament (GO:0005882)											TCCAGGCTACCATAATAGTTG	0.418																																																	0								ENSG00000206106						113.0	102.0	105.0					21																	31962669		692	1591	2283	KRTAP22-2	SO:0001583	missense	0			-	HGNC	AB096950	CCDS46641.1	21q22.11	2009-11-23			ENSG00000206106	ENSG00000206106		"""Keratin associated proteins"""	37091	protein-coding gene	gene with protein product							Standard	NM_001164434		Approved	KAP22.2	uc021wih.1	Q3LI68	OTTHUMG00000065630	ENST00000382830.2:c.25G>T	21.37:g.31962669C>A	ENSP00000372281:p.Gly9Cys	Somatic	0	133	0.00		0.5865840266559299	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	57	102	35.85		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.G9C	ENST00000382830.2	37	c.25	CCDS46641.1	21	.	.	.	.	.	.	.	.	.	.	C	10.75	1.438544	0.25900	.	.	ENSG00000206106	ENST00000382830	.	.	.	4.44	1.51	0.23008	.	0.221265	0.21881	U	0.067731	T	0.40297	0.1111	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.31586	-0.9938	6	0.87932	D	0	.	6.5878	0.22630	0.0:0.5528:0.3497:0.0975	.	.	.	.	C	9	.	ENSP00000372281:G9C	G	-	1	0	KRTAP22-2	30884540	0.011000	0.17503	0.005000	0.12908	0.106000	0.19336	0.501000	0.22578	0.203000	0.20529	0.561000	0.74099	GGT	-	NULL		0.418	KRTAP22-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP22-2	protein_coding	OTTHUMT00000140633.2	C	XM_002343740	-		31962669	-1	no_errors	ENST00000382830	ensembl	human	known	74_37	missense	SNP	0.022	A
SRP54-AS1	100506157	genome.wustl.edu	37	14	35390827	35390827	+	RNA	SNP	C	C	A			TCGA-MJ-A68J-01A-11D-A307-09	TCGA-MJ-A68J-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a0148d-ddbb-4cc7-9594-d3e6d2b2bf4a	8d0ec126-55e3-413c-bf42-fbaf91347ed4	g.chr14:35390827C>A	ENST00000556355.1	-	0	491				RP11-85K15.2_ENST00000555015.1_RNA																							ATGTTTTTCACTTATCCTTGT	0.294																																																	0								ENSG00000258704																																			RP11-85K15.2			0			-	Clone_based_vega_gene																													14.37:g.35390827C>A		Somatic	0	30	0.00		0.5865840266559299	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	14	44.00		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000556355.1	37	NULL		14																																																																																			-	-		0.294	RP11-85K15.2-004	KNOWN	basic	antisense	ENSG00000258704	processed_transcript	OTTHUMT00000410682.2	C		-		35390827	-1	no_errors	ENST00000555015	ensembl	human	known	74_37	rna	SNP	0.998	A
PIPSL	266971	genome.wustl.edu	37	10	95718377	95718378	+	RNA	INS	-	-	T			TCGA-MJ-A68J-01A-11D-A307-09	TCGA-MJ-A68J-10A-01D-A307-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a0148d-ddbb-4cc7-9594-d3e6d2b2bf4a	8d0ec126-55e3-413c-bf42-fbaf91347ed4	g.chr10:95718377_95718378insT	ENST00000480546.1	-	0	2919_2920					NR_002319.2		A2A3N6	PIPSL_HUMAN	PIP5K1A and PSMD4-like, pseudogene							cytoplasm (GO:0005737)	phosphatidylinositol phosphate kinase activity (GO:0016307)										ttctttctttctttctttcttt	0.317																																																	0								ENSG00000180764																																			PIPSL			0				HGNC	BC068549		10q23.33	2010-10-27	2010-10-27	2007-07-06	ENSG00000180764	ENSG00000180764		"""Proteasome (prosome, macropain) subunits"""	23733	pseudogene	pseudogene			"""proteasome (prosome, macropain) 26S subunit, non-ATPase, 4, pseudogene 2"", ""phosphatidylinositol-4-phosphate 5-kinase, type I-like 1"", ""PIP5K1A and PSMD4-like"""	PSMD4P2, PIP5K1L1		16344562	Standard	NR_002319		Approved	PIP5K1A-PSMD4, PIP5K1P3	uc009xuj.2	A2A3N6	OTTHUMG00000137480		10.37:g.95718380_95718380dupT		Somatic	0	25	0.00		0.5865840266559299	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	13	18.75	Q6NUK8	RNA	INS	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000480546.1	37	NULL		10																																																																																			-	-		0.317	PIPSL-002	PUTATIVE	basic	processed_transcript	PIPSL	pseudogene	OTTHUMT00000351483.1	-	NR_002319			95718378	-1	no_errors	ENST00000480546	ensembl	human	putative	74_37	rna	INS	0.070:0.069	T
RPL36A	6173	genome.wustl.edu	37	X	100646748	100646748	+	Missense_Mutation	SNP	C	C	T			TCGA-MJ-A68J-01A-11D-A307-09	TCGA-MJ-A68J-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a0148d-ddbb-4cc7-9594-d3e6d2b2bf4a	8d0ec126-55e3-413c-bf42-fbaf91347ed4	g.chrX:100646748C>T	ENST00000553110.3	+	3	199	c.115C>T	c.(115-117)Cgg>Tgg	p.R39W	RPL36A_ENST00000427805.2_Missense_Mutation_p.R75W|RPL36A_ENST00000471855.1_5'UTR|RPL36A-HNRNPH2_ENST00000409170.3_Silent_p.S49S			P83881	RL36A_HUMAN	ribosomal protein L36a	39					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			liver(4)|lung(1)|prostate(1)	6						CCCAGGAAAGCGGCGTTATGA	0.393																																																	0								ENSG00000241343						120.0	110.0	113.0					X																	100646748		2203	4300	6503	RPL36A	SO:0001583	missense	0			-	HGNC	BC001781	CCDS14483.1, CCDS14483.2	Xq22.1	2011-04-06	2002-01-15	2002-01-18	ENSG00000241343	ENSG00000241343		"""L ribosomal proteins"""	10359	protein-coding gene	gene with protein product		300902	"""ribosomal protein L44"""	RPL44		3461443	Standard	NM_021029		Approved	L36A		P83881	OTTHUMG00000022027	ENST00000553110.3:c.115C>T	X.37:g.100646748C>T	ENSP00000446503:p.Arg39Trp	Somatic	0	148	0.00		0.5865840266559299	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	53	113	31.93	P09896|P10661|Q08ES5|Q5J9I6	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Ribosomal_L44e,superfamily_Ribosomal_zn-bd	p.R75W	ENST00000553110.3	37	c.223		X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.67|15.67	2.901322|2.901322	0.52227|0.52227	.|.	.|.	ENSG00000241343|ENSG00000241343;ENSG00000241343;ENSG00000257529	ENST00000392994|ENST00000427805;ENST00000553110;ENST00000409338	.|T;T;T	.|0.80480	.|-1.38;-1.38;-1.38	5.85|5.85	3.87|3.87	0.44632|0.44632	.|Ribosomal protein, zinc-binding domain (1);	.|0.000000	.|0.64402	.|U	.|0.000006	D|D	0.86377|0.86377	0.5918|0.5918	H|H	0.96833|0.96833	3.89|3.89	0.38759|0.38759	D|D	0.954282|0.954282	.|B;B	.|0.12630	.|0.001;0.006	.|B;B	.|0.13407	.|0.001;0.009	D|D	0.86244|0.86244	0.1645|0.1645	5|10	.|0.56958	.|D	.|0.05	-15.317|-15.317	12.6959|12.6959	0.57003|0.57003	0.4636:0.5364:0.0:0.0|0.4636:0.5364:0.0:0.0	.|.	.|39;39	.|P83881;B2REA7	.|RL36A_HUMAN;.	V|W	57|75;39;50	.|ENSP00000404375:R75W;ENSP00000446503:R39W;ENSP00000386974:R50W	.|ENSP00000386974:R50W	A|R	+|+	2|1	0|2	RPL36A|RPL36A;RP1-164F3.9	100533404|100533404	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.963000|0.963000	0.63663|0.63663	3.433000|3.433000	0.52834|0.52834	1.181000|1.181000	0.42912|0.42912	0.468000|0.468000	0.43344|0.43344	GCG|CGG	-	pfam_Ribosomal_L44e,superfamily_Ribosomal_zn-bd		0.393	RPL36A-201	KNOWN	basic|appris_principal	protein_coding	RPL36A	protein_coding		C	NM_021029	-		100646748	+1	no_errors	ENST00000427805	ensembl	human	known	74_37	missense	SNP	1.000	T
CARD11	84433	genome.wustl.edu	37	7	2953040	2953040	+	Missense_Mutation	SNP	C	C	T	rs141751925	byFrequency	TCGA-MJ-A68J-01A-11D-A307-09	TCGA-MJ-A68J-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a0148d-ddbb-4cc7-9594-d3e6d2b2bf4a	8d0ec126-55e3-413c-bf42-fbaf91347ed4	g.chr7:2953040C>T	ENST00000396946.4	-	22	3303	c.2900G>A	c.(2899-2901)cGc>cAc	p.R967H		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	967					Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)	p.R960P(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		GTAGAAGGCGCGTACCAGGCT	0.677			Mis		DLBCL								C|||	2	0.000399361	0.0	0.0	5008	,	,		13736	0.002		0.0	False		,,,				2504	0.0							Dom	yes		7	7p22	84433	"""caspase recruitment domain family, member 11"""		L	1	Substitution - Missense(1)	kidney(1)						ENSG00000198286						73.0	63.0	67.0					7																	2953040		2203	4300	6503	CARD11	SO:0001583	missense	0			GMAF=0.0005	HGNC	AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"""card-maguk protein 1"", ""bcl10-interacting maguk protein 3"""	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.2900G>A	7.37:g.2953040C>T	ENSP00000380150:p.Arg967His	Somatic	0	212	0.00		0.5865840266559299	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	71	137	34.13	A4D1Z7|Q2NKN7|Q548H3	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,superfamily_PDZ,pfscan_CARD	p.R967H	ENST00000396946.4	37	c.2900	CCDS5336.2	7	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	6.789	0.514523	0.12944	.	.	ENSG00000198286	ENST00000396946	T	0.31247	1.5	4.36	3.47	0.39725	.	0.334784	0.27231	N	0.020313	T	0.15478	0.0373	N	0.11560	0.145	0.37466	D	0.915416	B	0.02656	0.0	B	0.04013	0.001	T	0.07712	-1.0758	10	0.48119	T	0.1	-24.9651	8.2371	0.31634	0.0:0.8208:0.0:0.1792	.	967	Q9BXL7	CAR11_HUMAN	H	967	ENSP00000380150:R967H	ENSP00000380150:R967H	R	-	2	0	CARD11	2919566	0.475000	0.25894	0.981000	0.43875	0.587000	0.36485	0.795000	0.26972	1.985000	0.57927	0.484000	0.47621	CGC	-	NULL		0.677	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	CARD11	protein_coding	OTTHUMT00000059344.4	C	NM_032415	rs141751925		2953040	-1	no_errors	ENST00000396946	ensembl	human	known	74_37	missense	SNP	0.963	T
ISM1	140862	genome.wustl.edu	37	20	13279761	13279761	+	Silent	SNP	C	C	T	rs572363345		TCGA-MJ-A68J-01A-11D-A307-09	TCGA-MJ-A68J-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a0148d-ddbb-4cc7-9594-d3e6d2b2bf4a	8d0ec126-55e3-413c-bf42-fbaf91347ed4	g.chr20:13279761C>T	ENST00000262487.4	+	6	1056	c.1050C>T	c.(1048-1050)gaC>gaT	p.D350D	TASP1_ENST00000539805.1_Intron	NM_080826.1	NP_543016.1	B1AKI9	ISM1_HUMAN	isthmin 1, angiogenesis inhibitor	350	AMOP. {ECO:0000255|PROSITE- ProRule:PRU00347}.					extracellular region (GO:0005576)				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						GCTGGAAGGACGCCAGCGGGC	0.647													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18261	0.0		0.0	False		,,,				2504	0.0																0								ENSG00000101230						41.0	47.0	45.0					20																	13279761		2144	4237	6381	ISM1	SO:0001819	synonymous_variant	0			-	HGNC	AL133463	CCDS46579.1	20p12.1	2013-05-15	2013-05-15	2008-12-23	ENSG00000101230	ENSG00000101230			16213	protein-coding gene	gene with protein product		615793	"""chromosome 20 open reading frame 82"", ""isthmin 1 homolog (zebrafish)"""	C20orf82			Standard	NM_080826		Approved	bA149I18.1	uc010gce.1	B1AKI9		ENST00000262487.4:c.1050C>T	20.37:g.13279761C>T		Somatic	0	59	0.00		0.5865840266559299	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	37	37.29	Q8WVH9	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_AMOP,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_AMOP,pfscan_AMOP,pfscan_Thrombospondin_1_rpt	p.D350	ENST00000262487.4	37	c.1050	CCDS46579.1	20																																																																																			-	pfam_AMOP,smart_AMOP,pfscan_AMOP		0.647	ISM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ISM1	protein_coding	OTTHUMT00000078039.2	C		-		13279761	+1	no_errors	ENST00000262487	ensembl	human	known	74_37	silent	SNP	0.980	T
LOC644794	644794	genome.wustl.edu	37	7	66369212	66369213	+	lincRNA	INS	-	-	GGCCTTTCCAGGCCCAGCTCTCGCCTCCCGGC			TCGA-MJ-A68J-01A-11D-A307-09	TCGA-MJ-A68J-10A-01D-A307-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a0148d-ddbb-4cc7-9594-d3e6d2b2bf4a	8d0ec126-55e3-413c-bf42-fbaf91347ed4	g.chr7:66369212_66369213insGGCCTTTCCAGGCCCAGCTCTCGCCTCCCGGC	ENST00000610177.1	+	0	1369_1370																											TGCCTCGTGGCGGCCTTCCCCG	0.738																																																	0								ENSG00000273142																																			RP11-458F8.4			0				Clone_based_vega_gene																													7.37:g.66369212_66369213insGGCCTTTCCAGGCCCAGCTCTCGCCTCCCGGC		Somatic	NA	NA	NA		0.5865840266559299	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA		RNA	INS	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000610177.1	37	NULL		7																																																																																			-	-		0.738	RP11-458F8.4-001	KNOWN	basic	lincRNA	LOC644794	lincRNA	OTTHUMT00000472525.1	-				66369213	+1	no_errors	ENST00000610177	ensembl	human	known	74_37	rna	INS	0.293:0.454	GGCCTTTCCAGGCCCAGCTCTCGCCTCCCGGC
CELF2	10659	genome.wustl.edu	37	10	11312784	11312784	+	Silent	SNP	G	G	T			TCGA-MJ-A68J-01A-11D-A307-09	TCGA-MJ-A68J-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a0148d-ddbb-4cc7-9594-d3e6d2b2bf4a	8d0ec126-55e3-413c-bf42-fbaf91347ed4	g.chr10:11312784G>T	ENST00000379261.4	+	7	845	c.753G>T	c.(751-753)ctG>ctT	p.L251L	CELF2_ENST00000315874.4_Silent_p.L227L|CELF2_ENST00000417956.2_Silent_p.L227L|CELF2_ENST00000399850.3_Silent_p.L227L|CELF2_ENST00000608830.1_Silent_p.L227L|CELF2_ENST00000450189.1_Silent_p.L258L|CELF2_ENST00000427450.1_Silent_p.L227L|CELF2_ENST00000542579.1_Silent_p.L258L|CELF2_ENST00000609692.1_Silent_p.L227L|CELF2_ENST00000354897.3_Silent_p.L227L|CELF2_ENST00000416382.2_Silent_p.L251L|CELF2_ENST00000537122.1_Silent_p.L140L|CELF2_ENST00000354440.2_Silent_p.L227L	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN	CUGBP, Elav-like family member 2	251	Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.				mRNA processing (GO:0006397)|regulation of heart contraction (GO:0008016)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						CACAGTATCTGGCGGTAAGTG	0.582											OREG0020007	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000048740						36.0	40.0	39.0					10																	11312784		2093	4235	6328	CELF2	SO:0001819	synonymous_variant	0			-	HGNC	U69546	CCDS41488.1, CCDS44354.1, CCDS44355.1, CCDS44356.1	10p13	2013-02-12	2010-02-19	2010-02-19	ENSG00000048740	ENSG00000048740		"""RNA binding motif (RRM) containing"""	2550	protein-coding gene	gene with protein product		602538	"""CUG triplet repeat, RNA-binding protein 2"", ""CUG triplet repeat, RNA binding protein 2"""	CUGBP2		7869393, 9887331	Standard	NM_006561		Approved	Etr-3, NAPOR-2, BRUNOL3	uc001ikl.4	O95319	OTTHUMG00000017668	ENST00000379261.4:c.753G>T	10.37:g.11312784G>T		Somatic	0	46	0.00	671	0.5865840266559299	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00	B7ZAN9|Q7KYU4|Q8N499|Q92950|Q96NW9|Q96RQ5|Q96RQ6|Q9UL67	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA	p.L258	ENST00000379261.4	37	c.774	CCDS44354.1	10																																																																																			-	NULL		0.582	CELF2-201	KNOWN	basic|CCDS	protein_coding	CELF2	protein_coding		G		-		11312784	+1	no_errors	ENST00000450189	ensembl	human	known	74_37	silent	SNP	1.000	T
ROBO3	64221	genome.wustl.edu	37	11	124751212	124751212	+	3'UTR	SNP	C	C	T			TCGA-MJ-A68J-01A-11D-A307-09	TCGA-MJ-A68J-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a0148d-ddbb-4cc7-9594-d3e6d2b2bf4a	8d0ec126-55e3-413c-bf42-fbaf91347ed4	g.chr11:124751212C>T	ENST00000397801.1	+	0	4419				RP11-664I21.5_ENST00000524453.1_RNA|ROBO3_ENST00000543966.1_3'UTR|ROBO3_ENST00000538940.1_3'UTR|ROBO3_ENST00000525482.1_3'UTR	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)						axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|neuron migration (GO:0001764)	axon (GO:0030424)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		GTCTTTTCCCCCCCAGCAGTG	0.517																																																	0								ENSG00000154134						56.0	55.0	55.0					11																	124751212		692	1591	2283	ROBO3	SO:0001624	3_prime_UTR_variant	0			-	HGNC	AK024697	CCDS44755.1	11q24	2013-02-11	2001-11-28		ENSG00000154134	ENSG00000154134		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13433	protein-coding gene	gene with protein product		608630	"""roundabout (axon guidance receptor, Drosophila) homolog 3"", ""horizontal gaze palsy with progressive scoliosis"""	HGPPS		15105459	Standard	NM_022370		Approved	RBIG1, FLJ21044, HGPS	uc001qbc.3	Q96MS0	OTTHUMG00000165934	ENST00000397801.1:c.*66C>T	11.37:g.124751212C>T		Somatic	0	69	0.00		0.5865840266559299	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	64	25.58		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000397801.1	37	NULL	CCDS44755.1	11																																																																																			-	-		0.517	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROBO3	protein_coding	OTTHUMT00000387091.1	C	XM_370663	-		124751212	+1	no_errors	ENST00000525482	ensembl	human	known	74_37	rna	SNP	0.000	T
