#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
AKAP2	11217	genome.wustl.edu	37	9	112930801	112930801	+	3'UTR	SNP	C	C	T			TCGA-EK-A2H1-01A-11D-A17W-09	TCGA-EK-A2H1-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e18b908-26a3-4f67-9d6d-cfc889c2ec18	6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e	g.chr9:112930801C>T	ENST00000259318.7	+	0	2811				PALM2-AKAP2_ENST00000302798.7_3'UTR|AKAP2_ENST00000482335.1_3'UTR|AKAP2_ENST00000374525.1_3'UTR|AKAP2_ENST00000434623.2_3'UTR|PALM2-AKAP2_ENST00000374530.3_3'UTR	NM_001136562.2	NP_001130034.1	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2											breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						CAGGAAGCGTCTTTGGTGCTT	0.428																																																	0													54.0	54.0	54.0					9																	112930801		2203	4300	6503	SO:0001624	3_prime_UTR_variant	11217			AB023137	CCDS43861.1, CCDS48003.1, CCDS56581.1	9q31.3	2009-10-16			ENSG00000241978	ENSG00000241978		"""A-kinase anchor proteins"""	372	protein-coding gene	gene with protein product	"""protein kinase A2"""	604582		PRKA2		10231032	Standard	NM_001136562		Approved	AKAP-KL, KIAA0920, DKFZp564L0716		Q9Y2D5	OTTHUMG00000156811	ENST00000259318.7:c.*24C>T	9.37:g.112930801C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	RNA	SNP	-	NULL	ENST00000259318.7	37	NULL	CCDS48003.1	9																																																																																			AKAP2	-	-		0.428	AKAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	AKAP2	HGNC	protein_coding	OTTHUMT00000346067.3	C	NM_001004065		112930801	+1	no_errors	ENST00000482335	ensembl	human	known	70_37	rna	SNP	0.922	T
ANKRD50	57182	genome.wustl.edu	37	4	125590986	125590986	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2H1-01A-11D-A17W-09	TCGA-EK-A2H1-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e18b908-26a3-4f67-9d6d-cfc889c2ec18	6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e	g.chr4:125590986G>A	ENST00000504087.1	-	4	4483	c.3446C>T	c.(3445-3447)tCg>tTg	p.S1149L	ANKRD50_ENST00000515641.1_Missense_Mutation_p.S970L	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	1149	Ser-rich.									NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						ACCACGTAACGAAGGCTGCAT	0.413																																																	0													145.0	139.0	141.0					4																	125590986		2203	4300	6503	SO:0001583	missense	57182			AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458		"""Ankyrin repeat domain containing"""	29223	protein-coding gene	gene with protein product							Standard	NM_020337		Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.3446C>T	4.37:g.125590986G>A	ENSP00000425658:p.Ser1149Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.S1149L	ENST00000504087.1	37	c.3446	CCDS34060.1	4	.	.	.	.	.	.	.	.	.	.	G	16.13	3.035720	0.54896	.	.	ENSG00000151458	ENST00000504087;ENST00000515641	T;T	0.68479	-0.33;-0.32	5.19	5.19	0.71726	.	0.302965	0.31415	N	0.007682	T	0.53206	0.1782	N	0.24115	0.695	0.40054	D	0.975814	B	0.22003	0.063	B	0.14578	0.011	T	0.50499	-0.8821	10	0.37606	T	0.19	.	15.5432	0.76074	0.0:0.1478:0.8522:0.0	.	1149	Q9ULJ7	ANR50_HUMAN	L	1149;970	ENSP00000425658:S1149L;ENSP00000425355:S970L	ENSP00000425658:S1149L	S	-	2	0	ANKRD50	125810436	1.000000	0.71417	0.934000	0.37439	0.936000	0.57629	4.680000	0.61656	2.698000	0.92095	0.561000	0.74099	TCG	ANKRD50	-	NULL		0.413	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD50	HGNC	protein_coding	OTTHUMT00000364775.1	G	NM_020337		125590986	-1	no_errors	ENST00000504087	ensembl	human	known	70_37	missense	SNP	0.975	A
BCAT2	587	genome.wustl.edu	37	19	49298713	49298713	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2H1-01A-11D-A17W-09	TCGA-EK-A2H1-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e18b908-26a3-4f67-9d6d-cfc889c2ec18	6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e	g.chr19:49298713G>C	ENST00000316273.6	-	11	1161	c.1149C>G	c.(1147-1149)atC>atG	p.I383M	RNU6-317P_ENST00000384031.1_RNA|BCAT2_ENST00000597011.1_Missense_Mutation_p.I343M|BCAT2_ENST00000402551.1_Missense_Mutation_p.I343M|BCAT2_ENST00000545387.2_Missense_Mutation_p.I291M	NM_001190.3	NP_001181.2	O15382	BCAT2_HUMAN	branched chain amino-acid transaminase 2, mitochondrial	383					branched-chain amino acid biosynthetic process (GO:0009082)|branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|isoleucine catabolic process (GO:0006550)|leucine metabolic process (GO:0006551)|regulation of hormone levels (GO:0010817)|small molecule metabolic process (GO:0044281)|valine metabolic process (GO:0006573)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	branched-chain-amino-acid transaminase activity (GO:0004084)|L-isoleucine transaminase activity (GO:0052656)|L-leucine transaminase activity (GO:0052654)|L-valine transaminase activity (GO:0052655)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	12		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.000366)|Epithelial(262;0.0195)|GBM - Glioblastoma multiforme(486;0.0224)	L-Isoleucine(DB00167)|L-Leucine(DB00149)	CGTGGGCTCTGATTCCGTACT	0.617											OREG0025609	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													106.0	68.0	81.0					19																	49298713		2203	4300	6503	SO:0001583	missense	587			U68418	CCDS12735.1, CCDS54290.1, CCDS74416.1	19q13.33	2013-09-20	2010-05-07		ENSG00000105552	ENSG00000105552	2.6.1.42		977	protein-coding gene	gene with protein product		113530	"""branched chain aminotransferase 2, mitochondrial"""	BCT2		9165094	Standard	NM_001190		Approved	BCAM	uc002pkr.3	O15382	OTTHUMG00000183327	ENST00000316273.6:c.1149C>G	19.37:g.49298713G>C	ENSP00000322991:p.Ile383Met	Somatic	961	WXS	Illumina HiSeq	Phase_IV	B2RB87|O00269|Q96KG1|Q9BTB6|Q9BUU6	Missense_Mutation	SNP	pfam_Aminotrans_IV,superfamily_Aminotrans_IV,pirsf_B_amino_transII,tigrfam_B_amino_transII	p.I383M	ENST00000316273.6	37	c.1149	CCDS12735.1	19	.	.	.	.	.	.	.	.	.	.	G	8.882	0.951888	0.18431	.	.	ENSG00000105552	ENST00000316273;ENST00000545387;ENST00000402551	T;T;T	0.17054	2.3;2.3;2.3	4.68	-9.37	0.00626	.	0.415663	0.23668	N	0.045747	T	0.08758	0.0217	L	0.38175	1.15	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.11329	0.006;0.001	T	0.15578	-1.0432	10	0.59425	D	0.04	-5.2067	5.1708	0.15108	0.151:0.4406:0.3175:0.0909	.	291;383	O15382-2;O15382	.;BCAT2_HUMAN	M	383;291;343	ENSP00000322991:I383M;ENSP00000440973:I291M;ENSP00000385161:I343M	ENSP00000322991:I383M	I	-	3	3	BCAT2	53990525	0.000000	0.05858	0.000000	0.03702	0.220000	0.24768	-2.749000	0.00793	-3.979000	0.00085	-0.270000	0.10280	ATC	BCAT2	-	superfamily_Aminotrans_IV,pirsf_B_amino_transII,tigrfam_B_amino_transII		0.617	BCAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCAT2	HGNC	protein_coding	OTTHUMT00000466202.1	G			49298713	-1	no_errors	ENST00000316273	ensembl	human	known	70_37	missense	SNP	0.000	C
C11orf63	79864	genome.wustl.edu	37	11	122795698	122795698	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EK-A2H1-01A-11D-A17W-09	TCGA-EK-A2H1-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e18b908-26a3-4f67-9d6d-cfc889c2ec18	6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e	g.chr11:122795698C>T	ENST00000531316.1	+	3	1050	c.958C>T	c.(958-960)Caa>Taa	p.Q320*	RNU4-23P_ENST00000362839.1_RNA|C11orf63_ENST00000227349.2_Nonsense_Mutation_p.Q320*			Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	320					axoneme assembly (GO:0035082)|brain development (GO:0007420)|cerebrospinal fluid secretion (GO:0033326)|ciliary basal body organization (GO:0032053)					breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		TAAATGGCATCAAAGAGCACA	0.408																																																	0													157.0	132.0	140.0					11																	122795698		2202	4299	6501	SO:0001587	stop_gained	79864			BC068507	CCDS8438.1, CCDS8439.1	11q24.1	2012-05-25			ENSG00000109944	ENSG00000109944			26288	protein-coding gene	gene with protein product						12477932	Standard	NM_024806		Approved	FLJ23554	uc001pym.4	Q6NUN7	OTTHUMG00000166027	ENST00000531316.1:c.958C>T	11.37:g.122795698C>T	ENSP00000431669:p.Gln320*	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6G0|Q96GB5|Q9H5D6	Nonsense_Mutation	SNP	NULL	p.Q320*	ENST00000531316.1	37	c.958	CCDS8438.1	11	.	.	.	.	.	.	.	.	.	.	C	38	6.738098	0.97801	.	.	ENSG00000109944	ENST00000227349;ENST00000531316	.	.	.	5.98	5.06	0.68205	.	0.234538	0.30338	N	0.009844	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-9.4882	13.63	0.62189	0.1552:0.8448:0.0:0.0	.	.	.	.	X	320	.	ENSP00000227349:Q320X	Q	+	1	0	C11orf63	122300908	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	3.065000	0.49994	1.514000	0.48869	0.563000	0.77884	CAA	C11orf63	-	NULL		0.408	C11orf63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C11orf63	HGNC	protein_coding	OTTHUMT00000387511.1	C	NM_024806		122795698	+1	no_errors	ENST00000227349	ensembl	human	known	70_37	nonsense	SNP	1.000	T
CDX4	1046	genome.wustl.edu	37	X	72667526	72667526	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2H1-01A-11D-A17W-09	TCGA-EK-A2H1-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e18b908-26a3-4f67-9d6d-cfc889c2ec18	6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e	g.chrX:72667526C>G	ENST00000373514.2	+	1	437	c.437C>G	c.(436-438)gCc>gGc	p.A146G		NM_005193.1	NP_005184.1	O14627	CDX4_HUMAN	caudal type homeobox 4	146					anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|labyrinthine layer development (GO:0060711)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	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)			endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18	Renal(35;0.156)					GCCGCCAAGGCCAGTTCCCCC	0.642																																																	0													22.0	22.0	22.0					X																	72667526		2169	4229	6398	SO:0001583	missense	1046			AF029879	CCDS14424.1	Xq13.2	2012-03-09	2007-07-09		ENSG00000131264	ENSG00000131264		"""Homeoboxes / ANTP class : HOXL subclass"""	1808	protein-coding gene	gene with protein product		300025	"""caudal type homeo box transcription factor 4"""			7655457	Standard	NM_005193		Approved		uc011mqk.2	O14627	OTTHUMG00000021831	ENST00000373514.2:c.437C>G	X.37:g.72667526C>G	ENSP00000362613:p.Ala146Gly	Somatic		WXS	Illumina HiSeq	Phase_IV	A1A513|Q5JS20	Missense_Mutation	SNP	pfam_Caudal_activation_dom,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_HTH_motif,prints_Homeobox_metazoa	p.A146G	ENST00000373514.2	37	c.437	CCDS14424.1	X	.	.	.	.	.	.	.	.	.	.	.	2.803	-0.248689	0.05867	.	.	ENSG00000131264	ENST00000373514	T	0.46819	0.86	2.32	2.32	0.28847	Caudal-like activation domain (1);	1.103290	0.07052	N	0.832130	T	0.48892	0.1525	M	0.62723	1.935	0.23510	N	0.997521	P	0.38711	0.643	B	0.42245	0.381	T	0.38222	-0.9671	10	0.21540	T	0.41	-0.0441	10.0073	0.41964	0.0:1.0:0.0:0.0	.	146	O14627	CDX4_HUMAN	G	146	ENSP00000362613:A146G	ENSP00000362613:A146G	A	+	2	0	CDX4	72584251	0.003000	0.15002	0.106000	0.21319	0.135000	0.20990	0.308000	0.19314	1.458000	0.47871	0.432000	0.28606	GCC	CDX4	-	pfam_Caudal_activation_dom		0.642	CDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDX4	HGNC	protein_coding	OTTHUMT00000057229.2	C	NM_005193		72667526	+1	no_errors	ENST00000373514	ensembl	human	known	70_37	missense	SNP	0.545	G
CNBD1	168975	genome.wustl.edu	37	8	88249266	88249266	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2H1-01A-11D-A17W-09	TCGA-EK-A2H1-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e18b908-26a3-4f67-9d6d-cfc889c2ec18	6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e	g.chr8:88249266C>T	ENST00000518476.1	+	6	748	c.697C>T	c.(697-699)Cac>Tac	p.H233Y	CNBD1_ENST00000522427.1_3'UTR	NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	233										breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						TCAGAGTTTCCACAGCTTCAT	0.378																																																	0													112.0	103.0	106.0					8																	88249266		1859	4104	5963	SO:0001583	missense	168975			AK093121	CCDS55259.1	8q21.3	2005-08-09				ENSG00000176571			26663	protein-coding gene	gene with protein product							Standard	NM_173538		Approved	FLJ35802	uc003ydy.2	Q8NA66		ENST00000518476.1:c.697C>T	8.37:g.88249266C>T	ENSP00000430073:p.His233Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom	p.H233Y	ENST00000518476.1	37	c.697	CCDS55259.1	8	.	.	.	.	.	.	.	.	.	.	C	7.241	0.601264	0.13939	.	.	ENSG00000176571	ENST00000518476	T	0.17528	2.27	4.07	-0.588	0.11687	Cyclic nucleotide-binding-like (1);	2.850900	0.00988	N	0.003489	T	0.12305	0.0299	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.31081	-0.9956	10	0.62326	D	0.03	1.2052	3.8509	0.08954	0.4951:0.2937:0.0:0.2112	.	233	Q8NA66	CNBD1_HUMAN	Y	233	ENSP00000430073:H233Y	ENSP00000430073:H233Y	H	+	1	0	CNBD1	88318382	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.132000	0.10467	-0.134000	0.11516	-0.150000	0.13652	CAC	CNBD1	-	superfamily_cNMP-bd-like		0.378	CNBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNBD1	HGNC	protein_coding	OTTHUMT00000375113.2	C	NM_173538		88249266	+1	no_errors	ENST00000518476	ensembl	human	known	70_37	missense	SNP	0.000	T
COL16A1	1307	genome.wustl.edu	37	1	32138516	32138516	+	Intron	SNP	G	G	A			TCGA-EK-A2H1-01A-11D-A17W-09	TCGA-EK-A2H1-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e18b908-26a3-4f67-9d6d-cfc889c2ec18	6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e	g.chr1:32138516G>A	ENST00000373672.3	-	45	3376				COL16A1_ENST00000271069.6_Missense_Mutation_p.H949Y	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1						cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female pregnancy (GO:0007565)|integrin-mediated signaling pathway (GO:0007229)	collagen type XVI trimer (GO:0005597)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		GAGCCCCAGTGAGAACCCAGA	0.667																																					Colon(143;498 1786 21362 25193 36625)												0																																										SO:0001627	intron_variant	1307			M92642	CCDS41297.1	1p35-p34	2013-01-16			ENSG00000084636	ENSG00000084636		"""Collagens"""	2193	protein-coding gene	gene with protein product		120326				1631157	Standard	NM_001856		Approved		uc001btk.1	Q07092	OTTHUMG00000003883	ENST00000373672.3:c.2860-75C>T	1.37:g.32138516G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q16593|Q59F89|Q71RG9	Missense_Mutation	SNP	pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	p.H949Y	ENST00000373672.3	37	c.2845	CCDS41297.1	1	.	.	.	.	.	.	.	.	.	.	G	9.351	1.065397	0.20067	.	.	ENSG00000084636	ENST00000271069	D	0.89939	-2.59	4.33	1.19	0.21007	.	0.896444	0.09586	N	0.782177	D	0.89220	0.6653	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.79720	-0.1685	7	0.56958	D	0.05	.	12.374	0.55269	0.0:0.4714:0.5286:0.0	.	.	.	.	Y	949	ENSP00000271069:H949Y	ENSP00000271069:H949Y	H	-	1	0	COL16A1	31911103	0.002000	0.14202	0.000000	0.03702	0.004000	0.04260	1.111000	0.31159	0.128000	0.18479	-0.311000	0.09066	CAC	COL16A1	-	NULL		0.667	COL16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL16A1	HGNC	protein_coding	OTTHUMT00000011057.2	G	NM_001856		32138516	-1	no_errors	ENST00000271069	ensembl	human	known	70_37	missense	SNP	0.000	A
COG2	22796	genome.wustl.edu	37	1	230825830	230825830	+	Missense_Mutation	SNP	A	A	T			TCGA-EK-A2H1-01A-11D-A17W-09	TCGA-EK-A2H1-10A-01D-A17W-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e18b908-26a3-4f67-9d6d-cfc889c2ec18	6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e	g.chr1:230825830A>T	ENST00000366669.4	+	16	1980	c.1865A>T	c.(1864-1866)cAc>cTc	p.H622L	COG2_ENST00000546013.1_Missense_Mutation_p.H311L|COG2_ENST00000366668.3_Missense_Mutation_p.H621L|COG2_ENST00000535166.1_Missense_Mutation_p.H506L|COG2_ENST00000490900.1_3'UTR|COG2_ENST00000534989.1_Missense_Mutation_p.H563L	NM_001145036.1|NM_007357.2	NP_001138508.1|NP_031383.1	Q14746	COG2_HUMAN	component of oligomeric golgi complex 2	622					Golgi organization (GO:0007030)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	cytosol (GO:0005829)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|Golgi transport complex (GO:0017119)	protein transporter activity (GO:0008565)			NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				CAGAGCGGACACAAGGATAAG	0.463																																																	0													116.0	119.0	118.0					1																	230825830		2203	4300	6503	SO:0001583	missense	22796			Z34975	CCDS1584.1, CCDS44329.1	1q42.2	2008-02-05	2002-05-28	2002-05-31	ENSG00000135775	ENSG00000135775		"""Components of oligomeric golgi complex"""	6546	protein-coding gene	gene with protein product		606974	"""low density lipoprotein receptor defect C complementing"""	LDLC		7962052	Standard	NM_007357		Approved		uc001htw.3	Q14746	OTTHUMG00000037753	ENST00000366669.4:c.1865A>T	1.37:g.230825830A>T	ENSP00000355629:p.His622Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q86U99	Missense_Mutation	SNP	pfam_COG_complex_COG2_C,pfam_COG_su2_N	p.H622L	ENST00000366669.4	37	c.1865	CCDS1584.1	1	.	.	.	.	.	.	.	.	.	.	A	9.704	1.155363	0.21454	.	.	ENSG00000135775	ENST00000366669;ENST00000535166;ENST00000366668;ENST00000534989;ENST00000546013	T;T;T;T;T	0.40476	1.03;1.03;1.03;1.03;1.03	5.91	3.5	0.40072	COG complex component, COG2, C-terminal (1);	0.475473	0.26935	N	0.021743	T	0.34890	0.0913	L	0.51422	1.61	0.09310	N	0.999999	B;B	0.32128	0.357;0.154	B;B	0.34590	0.186;0.124	T	0.19386	-1.0307	10	0.11485	T	0.65	-5.3041	11.1631	0.48526	0.7541:0.0:0.0:0.2459	.	621;622	Q86U99;Q14746	.;COG2_HUMAN	L	622;506;621;563;311	ENSP00000355629:H622L;ENSP00000445724:H506L;ENSP00000355628:H621L;ENSP00000440349:H563L;ENSP00000442147:H311L	ENSP00000355628:H621L	H	+	2	0	COG2	228892453	1.000000	0.71417	0.021000	0.16686	0.559000	0.35586	5.221000	0.65272	0.428000	0.26173	0.533000	0.62120	CAC	COG2	-	pfam_COG_complex_COG2_C		0.463	COG2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COG2	HGNC	protein_coding	OTTHUMT00000092087.1	A	NM_007357		230825830	+1	no_errors	ENST00000366669	ensembl	human	known	70_37	missense	SNP	0.039	T
CRYGA	1418	genome.wustl.edu	37	2	209025710	209025710	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A2H1-01A-11D-A17W-09	TCGA-EK-A2H1-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e18b908-26a3-4f67-9d6d-cfc889c2ec18	6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e	g.chr2:209025710G>T	ENST00000304502.4	-	3	362	c.343C>A	c.(343-345)Ctg>Atg	p.L115M		NM_014617.3	NP_055432.2	P11844	CRGA_HUMAN	crystallin, gamma A	115	Beta/gamma crystallin 'Greek key' 3. {ECO:0000255|PROSITE-ProRule:PRU00028}.				lens development in camera-type eye (GO:0002088)|visual perception (GO:0007601)		structural constituent of eye lens (GO:0005212)			endometrium(1)|kidney(3)|large_intestine(1)|lung(7)	12				Epithelial(149;0.067)|LUSC - Lung squamous cell carcinoma(261;0.0708)|Lung(261;0.135)		AGACGGAACAGTTCTGGAACA	0.562																																																	0													95.0	85.0	88.0					2																	209025710		2203	4300	6503	SO:0001583	missense	1418				CCDS33367.1	2q34	2013-02-14			ENSG00000168582	ENSG00000168582			2408	protein-coding gene	gene with protein product	"""gamma crystallin 5"""	123660		CRYG1			Standard	NM_014617		Approved	CRYG5, CRY-g-A		P11844	OTTHUMG00000154796	ENST00000304502.4:c.343C>A	2.37:g.209025710G>T	ENSP00000302105:p.Leu115Met	Somatic		WXS	Illumina HiSeq	Phase_IV	Q53ST5	Missense_Mutation	SNP	pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin	p.L115M	ENST00000304502.4	37	c.343	CCDS33367.1	2	.	.	.	.	.	.	.	.	.	.	G	11.85	1.762109	0.31228	.	.	ENSG00000168582	ENST00000304502	T	0.75589	-0.95	4.69	3.81	0.43845	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.248567	0.41001	D	0.000966	T	0.58694	0.2140	N	0.11560	0.145	0.22787	N	0.998731	B	0.25105	0.118	B	0.38327	0.271	T	0.54390	-0.8301	10	0.62326	D	0.03	.	5.7961	0.18387	0.0982:0.0:0.7099:0.192	.	115	P11844	CRGA_HUMAN	M	115	ENSP00000302105:L115M	ENSP00000302105:L115M	L	-	1	2	CRYGA	208733955	0.001000	0.12720	0.684000	0.30055	0.003000	0.03518	0.844000	0.27654	1.315000	0.45114	0.650000	0.86243	CTG	CRYGA	-	pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin		0.562	CRYGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRYGA	HGNC	protein_coding	OTTHUMT00000337096.1	G	NM_014617		209025710	-1	no_errors	ENST00000304502	ensembl	human	known	70_37	missense	SNP	0.729	T
DSCAML1	57453	genome.wustl.edu	37	11	117374667	117374667	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2H1-01A-11D-A17W-09	TCGA-EK-A2H1-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e18b908-26a3-4f67-9d6d-cfc889c2ec18	6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e	g.chr11:117374667G>A	ENST00000321322.6	-	11	2433	c.2432C>T	c.(2431-2433)tCg>tTg	p.S811L	DSCAML1_ENST00000527706.1_Missense_Mutation_p.S541L	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	751	Ig-like C2-type 9.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GATCAGCAGCGAGCTGTTGGG	0.622																																																	0													108.0	93.0	98.0					11																	117374667		2201	4296	6497	SO:0001583	missense	57453				CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.2432C>T	11.37:g.117374667G>A	ENSP00000315465:p.Ser811Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.S811L	ENST00000321322.6	37	c.2432	CCDS8384.1	11	.	.	.	.	.	.	.	.	.	.	G	31	5.091828	0.94149	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.68903	-0.36;-0.36	4.29	4.29	0.51040	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.80660	0.4665	M	0.72576	2.205	0.80722	D	1	D	0.89917	1.0	D	0.72338	0.977	D	0.83850	0.0262	9	0.87932	D	0	.	16.9369	0.86205	0.0:0.0:1.0:0.0	.	751	Q8TD84	DSCL1_HUMAN	L	541;811;518	ENSP00000434335:S541L;ENSP00000315465:S811L	ENSP00000315465:S811L	S	-	2	0	DSCAML1	116879877	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	9.597000	0.98273	2.237000	0.73441	0.462000	0.41574	TCG	DSCAML1	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.622	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAML1	HGNC	protein_coding	OTTHUMT00000392907.2	G	NM_020693		117374667	-1	no_errors	ENST00000321322	ensembl	human	known	70_37	missense	SNP	1.000	A
AL391867.1	0	genome.wustl.edu	37	9	105057701	105057701	+	RNA	SNP	G	G	A			TCGA-EK-A2H1-01A-11D-A17W-09	TCGA-EK-A2H1-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e18b908-26a3-4f67-9d6d-cfc889c2ec18	6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e	g.chr9:105057701G>A	ENST00000410185.1	+	0	43																											gccattaaaagtaatgacata	0.323																																																	0																																												0																															9.37:g.105057701G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000410185.1	37	NULL		9																																																																																			AL391867.1	-	-		0.323	AL391867.1-201	NOVEL	basic	miRNA	ENSG00000222117	Clone_based_ensembl_gene	miRNA		G			105057701	+1	no_errors	ENST00000410185	ensembl	human	novel	70_37	rna	SNP	0.001	A
HSPB6	126393	genome.wustl.edu	37	19	36246265	36246265	+	3'UTR	SNP	C	C	G			TCGA-EK-A2H1-01A-11D-A17W-09	TCGA-EK-A2H1-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e18b908-26a3-4f67-9d6d-cfc889c2ec18	6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e	g.chr19:36246265C>G	ENST00000592984.1	-	0	837				C19orf55_ENST00000544099.1_5'Flank|AC002398.12_ENST00000587767.1_RNA|HSPB6_ENST00000004982.3_3'UTR|C19orf55_ENST00000536950.1_5'Flank|AC002398.11_ENST00000591091.1_RNA|C19orf55_ENST00000537459.1_5'Flank|C19orf55_ENST00000396908.4_5'Flank|C19orf55_ENST00000421853.2_5'Flank			O14558	HSPB6_HUMAN	heat shock protein, alpha-crystallin-related, B6						regulation of muscle contraction (GO:0006937)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)|structural constituent of eye lens (GO:0005212)			lung(1)	1	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TCTATGTTATCAAGGCAGTGT	0.607																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AJ278121	CCDS12475.1	19q13.13	2014-06-12			ENSG00000004776	ENSG00000004776		"""Heat shock proteins / HSPB"""	26511	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 91"""	610695				12820654, 14717697	Standard	NM_144617		Approved	FLJ32389, Hsp20, PPP1R91	uc002obn.2	O14558	OTTHUMG00000048122	ENST00000592984.1:c.*158G>C	19.37:g.36246265C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	O14551|Q6NVI3|Q96MG9	RNA	SNP	-	NULL	ENST00000592984.1	37	NULL	CCDS12475.1	19	.	.	.	.	.	.	.	.	.	.	C	5.427	0.264015	0.10294	.	.	ENSG00000004776	ENST00000416180	.	.	.	2.8	-1.04	0.10068	.	.	.	.	.	T	0.28400	0.0702	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.33445	-0.9868	5	0.59425	D	0.04	-1.0E-4	2.5808	0.04817	0.1704:0.3792:0.3358:0.1146	.	.	.	.	F	194	.	ENSP00000391794:L194F	L	-	3	2	HSPB6	40938105	0.000000	0.05858	0.000000	0.03702	0.123000	0.20343	-0.397000	0.07269	-0.101000	0.12219	0.313000	0.20887	TTG	AC002398.12	-	-		0.607	HSPB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000267328	Clone_based_vega_gene	protein_coding	OTTHUMT00000109498.3	C	NM_144617		36246265	+1	no_errors	ENST00000587767	ensembl	human	known	70_37	rna	SNP	0.000	G
FBXO4	26272	genome.wustl.edu	37	5	41927154	41927154	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2H1-01A-11D-A17W-09	TCGA-EK-A2H1-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e18b908-26a3-4f67-9d6d-cfc889c2ec18	6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e	g.chr5:41927154C>T	ENST00000281623.3	+	2	285	c.229C>T	c.(229-231)Cat>Tat	p.H77Y	FBXO4_ENST00000296812.2_Missense_Mutation_p.H77Y|FBXO4_ENST00000509134.1_Missense_Mutation_p.H77Y	NM_012176.2	NP_036308.1	Q9UKT5	FBX4_HUMAN	F-box protein 4	77	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.				positive regulation of protein ubiquitination (GO:0031398)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|telomere maintenance (GO:0000723)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	protein homodimerization activity (GO:0042803)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(11)|prostate(1)|stomach(1)|urinary_tract(2)	27		Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604)				TCTTTCACCTCATGATCTGTG	0.358																																																	0													152.0	150.0	151.0					5																	41927154		2203	4300	6503	SO:0001583	missense	26272			AF129534	CCDS3938.1, CCDS3939.1, CCDS75238.1	5p12	2008-02-05	2004-06-15		ENSG00000151876	ENSG00000151876		"""F-boxes /  ""other"""""	13583	protein-coding gene	gene with protein product		609090	"""F-box only protein 4"""			10531035, 10531037	Standard	NM_033484		Approved	FBX4	uc003jmq.3	Q9UKT5	OTTHUMG00000094799	ENST00000281623.3:c.229C>T	5.37:g.41927154C>T	ENSP00000281623:p.His77Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q68CU8|Q86VT8|Q9UK98	Missense_Mutation	SNP	pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like	p.H77Y	ENST00000281623.3	37	c.229	CCDS3938.1	5	.	.	.	.	.	.	.	.	.	.	C	10.99	1.507205	0.27036	.	.	ENSG00000151876	ENST00000296812;ENST00000281623;ENST00000509134	T;T;T	0.54071	0.59;0.59;0.59	5.54	4.68	0.58851	F-box domain, cyclin-like (3);F-box domain, Skp2-like (1);	0.337088	0.35772	N	0.002999	T	0.44705	0.1306	L	0.51422	1.61	0.26218	N	0.979196	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.08055	0.003;0.003;0.001	T	0.33394	-0.9870	10	0.33141	T	0.24	-11.9419	10.0023	0.41935	0.1379:0.7906:0.0:0.0715	.	77;77;77	D6RAJ6;Q9UKT5;Q9UKT5-2	.;FBX4_HUMAN;.	Y	77	ENSP00000296812:H77Y;ENSP00000281623:H77Y;ENSP00000421749:H77Y	ENSP00000281623:H77Y	H	+	1	0	FBXO4	41962911	0.868000	0.29978	0.939000	0.37840	0.973000	0.67179	1.734000	0.38166	1.343000	0.45638	0.655000	0.94253	CAT	FBXO4	-	pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like		0.358	FBXO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO4	HGNC	protein_coding	OTTHUMT00000211614.1	C			41927154	+1	no_errors	ENST00000281623	ensembl	human	known	70_37	missense	SNP	0.498	T
FPGT	8790	genome.wustl.edu	37	1	74671227	74671227	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2H1-01A-11D-A17W-09	TCGA-EK-A2H1-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e18b908-26a3-4f67-9d6d-cfc889c2ec18	6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e	g.chr1:74671227C>T	ENST00000609362.1	+	4	1533	c.1496C>T	c.(1495-1497)tCa>tTa	p.S499L	FPGT-TNNI3K_ENST00000370895.1_Intron|FPGT_ENST00000524915.1_Intron|FPGT-TNNI3K_ENST00000370899.3_Intron|FPGT_ENST00000534056.1_Missense_Mutation_p.S245L|FPGT-TNNI3K_ENST00000557284.2_Intron|TNNI3K_ENST00000370891.2_Intron|FPGT_ENST00000370898.3_Missense_Mutation_p.S512L|FPGT_ENST00000370894.5_3'UTR|FPGT-TNNI3K_ENST00000533006.1_Intron|FPGT-TNNI3K_ENST00000370893.1_Intron	NM_003838.4	NP_003829.3	O14772	FPGT_HUMAN	fucose-1-phosphate guanylyltransferase	499					fucose metabolic process (GO:0006004)	cytoplasm (GO:0005737)	catalytic activity (GO:0003824)|fucose-1-phosphate guanylyltransferase activity (GO:0047341)|GTP binding (GO:0005525)	p.S499*(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	39						TGTTTCCTGTCATGCTTAGAT	0.378																																																	1	Substitution - Nonsense(1)	urinary_tract(1)											115.0	107.0	110.0					1																	74671227		2203	4300	6503	SO:0001583	missense	8790			AF017445	CCDS663.1, CCDS663.2	1p31.1	2013-09-24			ENSG00000254685	ENSG00000254685	2.7.7.30		3825	protein-coding gene	gene with protein product		603609				9804772	Standard	NM_003838		Approved	GFPP		O14772	OTTHUMG00000009571	ENST00000609362.1:c.1496C>T	1.37:g.74671227C>T	ENSP00000476680:p.Ser499Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NMH3|B4DRX2|B4E2Y7|E9PNQ2|Q8N5J7	Missense_Mutation	SNP	pfam_Fucokinase,superfamily_Trimer_LpxA-like,pirsf_Fucose-1-phosphate_GuaTrfase	p.S499L	ENST00000609362.1	37	c.1496	CCDS663.1	1	.	.	.	.	.	.	.	.	.	.	C	15.70	2.910494	0.52439	.	.	ENSG00000254685	ENST00000370898;ENST00000534056	T;T	0.32988	1.43;1.43	5.1	3.01	0.34805	L-fucokinase (1);	.	.	.	.	T	0.15478	0.0373	L	0.51422	1.61	0.80722	D	1	P;P;B	0.44521	0.642;0.837;0.253	B;B;B	0.38106	0.265;0.216;0.173	T	0.04268	-1.0964	9	0.39692	T	0.17	.	12.095	0.53750	0.3737:0.6262:0.0:0.0	.	245;124;499	E9PNQ2;B4E2Y7;O14772	.;.;FPGT_HUMAN	L	499;245	ENSP00000359935:S499L;ENSP00000432819:S245L	ENSP00000359935:S499L	S	+	2	0	TNNI3K	74443815	0.283000	0.24277	0.998000	0.56505	0.948000	0.59901	4.240000	0.58701	2.351000	0.79841	0.563000	0.77884	TCA	FPGT	-	pfam_Fucokinase,pirsf_Fucose-1-phosphate_GuaTrfase		0.378	FPGT-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FPGT	HGNC	protein_coding		C			74671227	+1	no_errors	ENST00000370898	ensembl	human	known	70_37	missense	SNP	0.952	T
GCNT4	51301	genome.wustl.edu	37	5	74324664	74324664	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EK-A2H1-01A-11D-A17W-09	TCGA-EK-A2H1-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e18b908-26a3-4f67-9d6d-cfc889c2ec18	6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e	g.chr5:74324664C>T	ENST00000322348.4	-	1	2060	c.1199G>A	c.(1198-1200)tGg>tAg	p.W400*		NM_016591.2	NP_057675.1	Q9P109	GCNT4_HUMAN	glucosaminyl (N-acetyl) transferase 4, core 2	400					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|homeostasis of number of cells (GO:0048872)|inter-male aggressive behavior (GO:0002121)|kidney morphogenesis (GO:0060993)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|thyroid hormone metabolic process (GO:0042403)|tissue morphogenesis (GO:0048729)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0003829)|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2)	19		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)		TTTGATAAGCCACCTTAATTC	0.403																																																	0													101.0	99.0	100.0					5																	74324664		2203	4300	6503	SO:0001587	stop_gained	51301			AF132035	CCDS4026.1	5q12	2013-02-25	2010-03-16		ENSG00000176928	ENSG00000176928	2.4.1.102	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	17973	protein-coding gene	gene with protein product	"""core 2 beta-1,6-N-acetylglucosaminyltransferase 3"", ""beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 4"""		"""glucosaminyl (N-acetyl) transferase 4, core 2 (beta-1,6-N-acetylglucosaminyltransferase)"""			10753916	Standard	NM_016591		Approved	C2GNT3	uc003kdn.3	Q9P109	OTTHUMG00000131272	ENST00000322348.4:c.1199G>A	5.37:g.74324664C>T	ENSP00000317027:p.Trp400*	Somatic		WXS	Illumina HiSeq	Phase_IV		Nonsense_Mutation	SNP	pfam_Glyco_trans_14	p.W400*	ENST00000322348.4	37	c.1199	CCDS4026.1	5	.	.	.	.	.	.	.	.	.	.	.	45	11.736312	0.99597	.	.	ENSG00000176928	ENST00000322348	.	.	.	6.06	5.19	0.71726	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.0375	15.566	0.76294	0.0:0.934:0.0:0.066	.	.	.	.	X	400	.	ENSP00000317027:W400X	W	-	2	0	GCNT4	74360420	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.807000	0.86032	1.573000	0.49748	0.650000	0.86243	TGG	GCNT4	-	pfam_Glyco_trans_14		0.403	GCNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCNT4	HGNC	protein_coding	OTTHUMT00000254040.1	C	NM_016591		74324664	-1	no_errors	ENST00000322348	ensembl	human	known	70_37	nonsense	SNP	1.000	T
GLTSCR1	29998	genome.wustl.edu	37	19	48202003	48202003	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2H1-01A-11D-A17W-09	TCGA-EK-A2H1-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e18b908-26a3-4f67-9d6d-cfc889c2ec18	6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e	g.chr19:48202003C>G	ENST00000396720.3	+	12	3555	c.3361C>G	c.(3361-3363)Cag>Gag	p.Q1121E	CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	1121										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		CCATGTCTACCAGGGCGCCCT	0.662											OREG0025594	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													32.0	33.0	33.0					19																	48202003		1963	4147	6110	SO:0001583	missense	29998			AF182077	CCDS46134.1	19q13.3	2012-11-29			ENSG00000063169	ENSG00000063169			4332	protein-coding gene	gene with protein product		605690				10708517	Standard	NM_015711		Approved		uc002phh.4	Q9NZM4		ENST00000396720.3:c.3361C>G	19.37:g.48202003C>G	ENSP00000379946:p.Gln1121Glu	Somatic	952	WXS	Illumina HiSeq	Phase_IV	A8MW01	Missense_Mutation	SNP	NULL	p.Q1121E	ENST00000396720.3	37	c.3361	CCDS46134.1	19	.	.	.	.	.	.	.	.	.	.	c	18.45	3.626589	0.66901	.	.	ENSG00000063169	ENST00000396720	T	0.35421	1.31	4.27	4.27	0.50696	.	.	.	.	.	T	0.52613	0.1745	L	0.55990	1.75	0.48762	D	0.999704	D	0.64830	0.994	D	0.63283	0.913	T	0.57260	-0.7842	9	0.72032	D	0.01	.	15.6207	0.76805	0.0:1.0:0.0:0.0	.	1121	Q9NZM4	GSCR1_HUMAN	E	1121	ENSP00000379946:Q1121E	ENSP00000379946:Q1121E	Q	+	1	0	GLTSCR1	52893815	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.357000	0.79456	2.222000	0.72286	0.556000	0.70494	CAG	GLTSCR1	-	NULL		0.662	GLTSCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLTSCR1	HGNC	protein_coding	OTTHUMT00000465846.1	C	NM_015711		48202003	+1	no_errors	ENST00000396720	ensembl	human	known	70_37	missense	SNP	1.000	G
HERC2	8924	genome.wustl.edu	37	15	28358750	28358750	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2H1-01A-11D-A17W-09	TCGA-EK-A2H1-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e18b908-26a3-4f67-9d6d-cfc889c2ec18	6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e	g.chr15:28358750G>C	ENST00000261609.7	-	91	14096	c.13988C>G	c.(13987-13989)tCt>tGt	p.S4663C		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)		GGTGAACAGAGAGAGGAGGGG	0.562																																																	0													114.0	105.0	108.0					15																	28358750		2203	4300	6503	SO:0001583	missense	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.13988C>G	15.37:g.28358750G>C	ENSP00000261609:p.Ser4663Cys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	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.S4663C	ENST00000261609.7	37	c.13988	CCDS10021.1	15	.	.	.	.	.	.	.	.	.	.	G	17.68	3.450564	0.63290	.	.	ENSG00000128731	ENST00000261609	T	0.60040	0.22	5.33	5.33	0.75918	HECT (4);	0.065119	0.64402	N	0.000005	T	0.77844	0.4191	M	0.87827	2.91	0.80722	D	1	D;P	0.71674	0.998;0.612	P;B	0.59761	0.863;0.412	T	0.82460	-0.0446	10	0.87932	D	0	.	19.0214	0.92917	0.0:0.0:1.0:0.0	.	4663;352	O95714;Q8ND39	HERC2_HUMAN;.	C	4663	ENSP00000261609:S4663C	ENSP00000261609:S4663C	S	-	2	0	HERC2	26032345	1.000000	0.71417	0.907000	0.35723	0.042000	0.13812	9.829000	0.99411	2.503000	0.84419	0.561000	0.74099	TCT	HERC2	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT		0.562	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC2	HGNC	protein_coding	OTTHUMT00000251358.2	G	NM_004667		28358750	-1	no_errors	ENST00000261609	ensembl	human	known	70_37	missense	SNP	1.000	C
HMGN2	3151	genome.wustl.edu	37	1	26801498	26801498	+	Intron	SNP	T	T	C			TCGA-EK-A2H1-01A-11D-A17W-09	TCGA-EK-A2H1-10A-01D-A17W-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e18b908-26a3-4f67-9d6d-cfc889c2ec18	6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e	g.chr1:26801498T>C	ENST00000361427.5	+	6	331				HMGN2_ENST00000493418.1_3'UTR	NM_005517.3	NP_005508.1	P05204	HMGN2_HUMAN	high mobility group nucleosomal binding domain 2							chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|lung(2)	3		all_cancers(24;1.9e-24)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.38e-49)|OV - Ovarian serous cystadenocarcinoma(117;5.38e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.026)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227)		TCTCAGTACCTGAAACCTGAA	0.413																																																	0																																										SO:0001627	intron_variant	3151			BC081567	CCDS283.1	1p36.1	2011-07-01	2011-04-05	2002-08-16	ENSG00000198830	ENSG00000198830		"""High-mobility group / Canonical"""	4986	protein-coding gene	gene with protein product		163910	"""high-mobility group (nonhistone chromosomal) protein 17"", ""high-mobility group nucleosomal binding domain 2"""	HMG17		2037294	Standard	NM_005517		Approved		uc001bmp.4	P05204	OTTHUMG00000003555	ENST00000361427.5:c.238-106T>C	1.37:g.26801498T>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q0VGD5|Q6FGI5|Q96C64	RNA	SNP	-	NULL	ENST00000361427.5	37	NULL	CCDS283.1	1																																																																																			HMGN2	-	-		0.413	HMGN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMGN2	HGNC	protein_coding	OTTHUMT00000009901.1	T	NM_005517		26801498	+1	no_errors	ENST00000493418	ensembl	human	known	70_37	rna	SNP	0.000	C
IDI2-AS1	55853	genome.wustl.edu	37	10	1082762	1082762	+	RNA	SNP	C	C	T			TCGA-EK-A2H1-01A-11D-A17W-09	TCGA-EK-A2H1-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e18b908-26a3-4f67-9d6d-cfc889c2ec18	6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e	g.chr10:1082762C>T	ENST00000428780.2	+	0	313				IDI2-AS1_ENST00000420381.1_RNA|IDI2-AS1_ENST00000437374.1_RNA|IDI2-AS1_ENST00000536039.1_RNA|IDI2-AS1_ENST00000434470.1_RNA	NR_024628.1		Q9NZ38	IDAS1_HUMAN	IDI2 antisense RNA 1																		ggcgtgtcttcatggcttttc	0.577																																																	0																																												55853			AF220183		10p15.3	2014-01-15	2012-08-15	2010-11-25	ENSG00000232656	ENSG00000232656		"""Long non-coding RNAs"""	30885	non-coding RNA	RNA, long non-coding		615391	"""chromosome 10 open reading frame 110"", ""IDI2 antisense RNA (non-protein coding)"", ""IDI2 antisense RNA 1 (non-protein coding)"""	C10orf110, IDI2-AS		24036268	Standard	NR_024628		Approved	HT009, Em:AC022536.4	uc001ifw.3	Q9NZ38	OTTHUMG00000017535		10.37:g.1082762C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000428780.2	37	NULL		10																																																																																			IDI2-AS1	-	-		0.577	IDI2-AS1-002	KNOWN	basic	antisense	IDI2-AS1	HGNC	antisense	OTTHUMT00000046403.1	C	NR_024628		1082762	+1	no_errors	ENST00000420381	ensembl	human	known	70_37	rna	SNP	0.022	T
MARCH7	64844	genome.wustl.edu	37	2	160604680	160604680	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EK-A2H1-01A-11D-A17W-09	TCGA-EK-A2H1-10A-01D-A17W-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e18b908-26a3-4f67-9d6d-cfc889c2ec18	6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e	g.chr2:160604680delT	ENST00000259050.4	+	5	1001	c.879delT	c.(877-879)actfs	p.T293fs	MARCH7_ENST00000409591.1_Frame_Shift_Del_p.T255fs|MARCH7_ENST00000409175.1_Frame_Shift_Del_p.T293fs|MARCH7_ENST00000539065.1_Frame_Shift_Del_p.T237fs	NM_001282805.1|NM_001282807.1|NM_022826.2	NP_001269734.1|NP_001269736.1|NP_073737.1	Q9H992	MARH7_HUMAN	membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase	293	Ser-rich.				protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						TGTCATCTACTTTTTTTTCAC	0.393																																																	0													63.0	64.0	64.0					2																	160604680		2203	4300	6503	SO:0001589	frameshift_variant	64844			AK022973	CCDS2210.1, CCDS63038.1, CCDS63039.1	2q24.2	2013-01-09	2012-02-23	2005-01-27	ENSG00000136536	ENSG00000136536		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	17393	protein-coding gene	gene with protein product		613334	"""axotrophin"", ""membrane-associated ring finger (C3HC4) 7"""	AXOT		14722266	Standard	XM_005246773		Approved	MARCH-VII, RNF177	uc002uax.3	Q9H992	OTTHUMG00000132029	ENST00000259050.4:c.879delT	2.37:g.160604680delT	ENSP00000259050:p.Thr293fs	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K9X1|B7Z7P5|D3DPB0|Q53GQ1|Q9BTR9	Frame_Shift_Del	DEL	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH	p.S296fs	ENST00000259050.4	37	c.879	CCDS2210.1	2																																																																																			MARCH7	-	NULL		0.393	MARCH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARCH7	HGNC	protein_coding	OTTHUMT00000255040.3	T	NM_022826		160604680	+1	no_errors	ENST00000259050	ensembl	human	known	70_37	frame_shift_del	DEL	0.910	-
METTL8	79828	genome.wustl.edu	37	2	172217022	172217022	+	Splice_Site	SNP	C	C	G	rs545647826		TCGA-EK-A2H1-01A-11D-A17W-09	TCGA-EK-A2H1-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e18b908-26a3-4f67-9d6d-cfc889c2ec18	6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e	g.chr2:172217022C>G	ENST00000375258.4	-	3	360	c.145G>C	c.(145-147)Gat>Cat	p.D49H		NM_024770.3	NP_079046.2	Q9H825	METL8_HUMAN	methyltransferase like 8	49						cytoplasm (GO:0005737)|nucleus (GO:0005634)	methyltransferase activity (GO:0008168)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	11						TGCATGTGATCCCTATTAAAA	0.378																																																	0													94.0	88.0	90.0					2																	172217022		2203	4300	6503	SO:0001630	splice_region_variant	79828			AK024046	CCDS2242.1, CCDS2242.2	2q31.1	2012-06-12			ENSG00000123600	ENSG00000123600			25856	protein-coding gene	gene with protein product	"""tension-induced/inhibited protein"""	609525				15992539	Standard	NM_024770		Approved	FLJ13984, TIP	uc010zdo.2	Q9H825	OTTHUMG00000132261	ENST00000375258.4:c.144-1G>C	2.37:g.172217022C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q53TM9|Q53TQ0	Missense_Mutation	SNP	pfam_Methyltransf_11	p.D49H	ENST00000375258.4	37	c.145		2	.	.	.	.	.	.	.	.	.	.	C	16.48	3.136275	0.56936	.	.	ENSG00000123600	ENST00000375258;ENST00000392599;ENST00000442778;ENST00000453846;ENST00000442541	T;T;T;T;T	0.22134	1.97;1.97;1.97;1.97;1.97	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.52885	0.1762	M	0.86805	2.84	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	T	0.59778	-0.7390	10	0.87932	D	0	-2.3399	16.1499	0.81605	0.0:1.0:0.0:0.0	.	4;49;49	B4DLT0;B3KW44;Q9H825	.;.;METL8_HUMAN	H	49	ENSP00000364407:D49H;ENSP00000376377:D49H;ENSP00000404646:D49H;ENSP00000411589:D49H;ENSP00000411942:D49H	ENSP00000364407:D49H	D	-	1	0	METTL8	171925268	1.000000	0.71417	1.000000	0.80357	0.379000	0.30106	4.376000	0.59556	2.669000	0.90835	0.467000	0.42956	GAT	METTL8	-	NULL		0.378	METTL8-001	PUTATIVE	basic|appris_principal	protein_coding	METTL8	HGNC	protein_coding	OTTHUMT00000255345.3	C	NM_024770	Missense_Mutation	172217022	-1	no_errors	ENST00000392604	ensembl	human	known	70_37	missense	SNP	1.000	G
MGAT5B	146664	genome.wustl.edu	37	17	74909778	74909778	+	Intron	SNP	G	G	A			TCGA-EK-A2H1-01A-11D-A17W-09	TCGA-EK-A2H1-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e18b908-26a3-4f67-9d6d-cfc889c2ec18	6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e	g.chr17:74909778G>A	ENST00000569840.2	+	8	1599				MGAT5B_ENST00000374998.3_3'UTR|MGAT5B_ENST00000301618.4_Intron|MGAT5B_ENST00000428789.2_Intron	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B						protein N-linked glycosylation (GO:0006487)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						gtagccaagagcaagccagat	0.483																																																	0													25.0	23.0	23.0					17																	74909778		876	1987	2863	SO:0001627	intron_variant	146664			AB109185	CCDS11751.1, CCDS45788.1, CCDS59299.1	17q25.3	2013-02-25	2005-11-16		ENSG00000167889	ENSG00000167889		"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	24140	protein-coding gene	gene with protein product		612441	"""mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isoenzyme B"""			14617637, 14623122	Standard	NM_001199172		Approved	GnT-IX, FLJ25132, GnT-VB	uc002jth.3	Q3V5L5	OTTHUMG00000177278	ENST00000569840.2:c.1025+7509G>A	17.37:g.74909778G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6P3S8|Q6P6B3|Q766X5|Q76D04|Q96LS2	RNA	SNP	-	NULL	ENST00000569840.2	37	NULL	CCDS59299.1	17																																																																																			MGAT5B	-	-		0.483	MGAT5B-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MGAT5B	HGNC	protein_coding	OTTHUMT00000460624.2	G	NM_144677		74909778	+1	no_errors	ENST00000374998	ensembl	human	known	70_37	rna	SNP	0.001	A
MON2	23041	genome.wustl.edu	37	12	62918307	62918307	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2H1-01A-11D-A17W-09	TCGA-EK-A2H1-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e18b908-26a3-4f67-9d6d-cfc889c2ec18	6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e	g.chr12:62918307G>A	ENST00000393632.2	+	9	1388	c.997G>A	c.(997-999)Gag>Aag	p.E333K	MON2_ENST00000393629.2_Missense_Mutation_p.E333K|MON2_ENST00000280379.6_Missense_Mutation_p.E333K|MON2_ENST00000552115.1_Missense_Mutation_p.E333K|MON2_ENST00000393630.3_Missense_Mutation_p.E333K|MON2_ENST00000552738.1_Missense_Mutation_p.E333K|MON2_ENST00000546600.1_Missense_Mutation_p.E333K	NM_015026.2	NP_055841.2	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	333					actin cytoskeleton organization (GO:0030036)|Golgi to endosome transport (GO:0006895)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		AACTGAATGTGAGATATTTCT	0.353																																																	0													53.0	55.0	54.0					12																	62918307		2203	4300	6503	SO:0001583	missense	23041				CCDS31849.1, CCDS61175.1, CCDS61177.1, CCDS61178.1	12q14.1	2014-08-12	2006-04-04		ENSG00000061987	ENSG00000061987			29177	protein-coding gene	gene with protein product			"""MON2 homolog (yeast)"""			16301316, 24285343	Standard	NM_015026		Approved	KIAA1040	uc001sre.3	Q7Z3U7	OTTHUMG00000169992	ENST00000393632.2:c.997G>A	12.37:g.62918307G>A	ENSP00000377252:p.Glu333Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A5D8U7|A7E2Y0|B9EGP5|F8VWA6|F8W1Z6|Q86TA2|Q8N3I5|Q8NAI0|Q8NHE2|Q9UPW1	Missense_Mutation	SNP	pfam_DUF1981_SEC7_assoc,superfamily_ARM-type_fold	p.E333K	ENST00000393632.2	37	c.997	CCDS31849.1	12	.	.	.	.	.	.	.	.	.	.	G	34	5.364215	0.95877	.	.	ENSG00000061987	ENST00000393632;ENST00000393630;ENST00000280379;ENST00000546600;ENST00000261188;ENST00000552738;ENST00000393629;ENST00000552115	T;T;T;T;T;T;T	0.58506	0.33;0.33;0.33;0.33;0.33;0.33;0.33	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.80701	0.4673	M	0.88640	2.97	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.997;1.0	D;D;D;D	0.97110	1.0;0.991;0.992;0.999	T	0.83097	-0.0130	9	.	.	.	-14.9822	19.0331	0.92965	0.0:0.0:1.0:0.0	.	333;333;333;333	B9EGP5;F8VWA6;F8W1Z6;Q7Z3U7-4	.;.;.;.	K	333;333;333;333;261;333;333;333	ENSP00000377252:E333K;ENSP00000377250:E333K;ENSP00000280379:E333K;ENSP00000447407:E333K;ENSP00000449215:E333K;ENSP00000377249:E333K;ENSP00000446635:E333K	.	E	+	1	0	MON2	61204574	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.176000	0.94839	2.802000	0.96397	0.655000	0.94253	GAG	MON2	-	superfamily_ARM-type_fold		0.353	MON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MON2	HGNC	protein_coding	OTTHUMT00000406767.3	G	NM_015026		62918307	+1	no_errors	ENST00000393630	ensembl	human	known	70_37	missense	SNP	1.000	A
NBEAL2	23218	genome.wustl.edu	37	3	47041727	47041727	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2H1-01A-11D-A17W-09	TCGA-EK-A2H1-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e18b908-26a3-4f67-9d6d-cfc889c2ec18	6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e	g.chr3:47041727C>G	ENST00000450053.3	+	27	4317	c.4138C>G	c.(4138-4140)Ctt>Gtt	p.L1380V	NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Missense_Mutation_p.L1196V	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1380					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		CAGTGGGACTCTTACTCCAGC	0.637																																																	0													55.0	61.0	59.0					3																	47041727		2110	4218	6328	SO:0001583	missense	23218			AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"""WD repeat domain containing"""	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.4138C>G	3.37:g.47041727C>G	ENSP00000415034:p.Leu1380Val	Somatic		WXS	Illumina HiSeq	Phase_IV	O60288|Q6P994|Q6UX91|Q8NAC9	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L1380V	ENST00000450053.3	37	c.4138	CCDS46817.1	3	.	.	.	.	.	.	.	.	.	.	C	5.831	0.337507	0.11013	.	.	ENSG00000160796	ENST00000292309;ENST00000450053	T;T	0.56611	0.45;0.47	5.48	-0.584	0.11702	.	1.019910	0.07824	N	0.960303	T	0.36248	0.0960	L	0.28115	0.83	0.24652	N	0.993513	B	0.02656	0.0	B	0.04013	0.001	T	0.26744	-1.0094	10	0.10636	T	0.68	.	11.253	0.49037	0.189:0.367:0.444:0.0	.	1380	Q6ZNJ1	NBEL2_HUMAN	V	1196;1380	ENSP00000292309:L1196V;ENSP00000415034:L1380V	ENSP00000292309:L1196V	L	+	1	0	NBEAL2	47016731	0.583000	0.26757	0.001000	0.08648	0.327000	0.28475	1.695000	0.37763	-0.449000	0.07117	0.561000	0.74099	CTT	NBEAL2	-	NULL		0.637	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBEAL2	HGNC	protein_coding	OTTHUMT00000344363.3	C	XM_291064		47041727	+1	no_errors	ENST00000450053	ensembl	human	known	70_37	missense	SNP	0.073	G
NF2	4771	genome.wustl.edu	37	22	30070877	30070877	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EK-A2H1-01A-11D-A17W-09	TCGA-EK-A2H1-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e18b908-26a3-4f67-9d6d-cfc889c2ec18	6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e	g.chr22:30070877G>T	ENST00000338641.4	+	13	1834	c.1393G>T	c.(1393-1395)Gag>Tag	p.E465*	NF2_ENST00000403999.3_Nonsense_Mutation_p.E465*|NF2_ENST00000361452.4_Nonsense_Mutation_p.E424*|NF2_ENST00000361676.4_Nonsense_Mutation_p.E423*|NF2_ENST00000413209.2_Intron|NF2_ENST00000397789.3_Nonsense_Mutation_p.E465*|NF2_ENST00000403435.1_Nonsense_Mutation_p.E436*|NF2_ENST00000361166.4_Nonsense_Mutation_p.E465*|NF2_ENST00000353887.4_Nonsense_Mutation_p.E382*|NF2_ENST00000347330.5_Missense_Mutation_p.G192V|NF2_ENST00000334961.7_Nonsense_Mutation_p.E382*	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN	neurofibromin 2 (merlin)	465	Glu-rich.				actin cytoskeleton organization (GO:0030036)|cell-cell junction organization (GO:0045216)|ectoderm development (GO:0007398)|hippocampus development (GO:0021766)|lens fiber cell differentiation (GO:0070306)|mesoderm formation (GO:0001707)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of DNA replication (GO:0008156)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|negative regulation of tyrosine phosphorylation of Stat5 protein (GO:0042524)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell differentiation (GO:0045597)|positive regulation of stress fiber assembly (GO:0051496)|regulation of hippo signaling (GO:0035330)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of protein localization to nucleus (GO:1900180)|regulation of protein stability (GO:0031647)|Schwann cell proliferation (GO:0014010)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|cleavage furrow (GO:0032154)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome (GO:0005769)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)		p.?(4)|p.E465fs*20(1)|p.Q459fs*25(1)|p.A464fs*24(1)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						ACGCGAGGCGGAGCGAAGAGC	0.607			"""D, Mis, N, F, S, O"""		"""meningioma, acoustic neuroma, renal """	"""meningioma, acoustic neuroma"""			Neurofibromatosis, type 2																														yes	Rec	yes	Neurofibromatosis type 2	22	22q12.2	4771	neurofibromatosis type 2 gene		O	7	Unknown(4)|Deletion - Frameshift(2)|Complex - frameshift(1)	meninges(2)|large_intestine(1)|soft_tissue(1)|central_nervous_system(1)|stomach(1)|kidney(1)	GRCh37	CM035747	NF2	M							36.0	33.0	34.0					22																	30070877		2189	4269	6458	SO:0001587	stop_gained	4771	Familial Cancer Database	NF2, Central Neurofibromatosis, Bilateral Acoustic Neurofibromatosis	L11353	CCDS13861.1, CCDS13862.1, CCDS13863.1, CCDS13864.1, CCDS13865.1, CCDS54516.1	22q12.2	2014-09-17	2007-12-17		ENSG00000186575	ENSG00000186575		"""A-kinase anchor proteins"""	7773	protein-coding gene	gene with protein product	"""moesin-ezrin-radixin like"", ""schwannomin"""	607379	"""neurofibromin 2 (bilateral acoustic neuroma)"""			10591208	Standard	NM_000268		Approved	merlin	uc003age.4	P35240	OTTHUMG00000030727	ENST00000338641.4:c.1393G>T	22.37:g.30070877G>T	ENSP00000344666:p.Glu465*	Somatic		WXS	Illumina HiSeq	Phase_IV	O95683|Q8WUJ2|Q969N0|Q969Q3|Q96T30|Q96T31|Q96T32|Q96T33|Q9BTW3|Q9UNG9|Q9UNH3|Q9UNH4	Nonsense_Mutation	SNP	pirsf_ERM,pfam_ERM_C,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin,smart_Band_41_domain,prints_Ez/rad/moesin,prints_Band_41_fam,prints_Tropomyosin,pfscan_FERM_domain	p.E465*	ENST00000338641.4	37	c.1393	CCDS13861.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	39|39	7.626734|7.626734	0.98396|0.98396	.|.	.|.	ENSG00000186575|ENSG00000186575	ENST00000338641;ENST00000403435;ENST00000361452;ENST00000397822;ENST00000403999;ENST00000334961;ENST00000353887;ENST00000397789;ENST00000361676;ENST00000361166|ENST00000347330	.|D	.|0.94828	.|-3.53	5.6|5.6	5.6|5.6	0.85130|0.85130	.|.	0.094718|.	0.64402|.	D|.	0.000001|.	.|D	.|0.96648	.|0.8906	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|D	.|0.95918	.|0.8928	.|5	.|.	.|.	.|.	.|.	19.605|19.605	0.95577|0.95577	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|V	465;436;424;440;465;382;382;465;423;465|192	.|ENSP00000335160:G192V	.|.	E|G	+|+	1|2	0|0	NF2|NF2	28400877|28400877	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.322000|0.322000	0.28314|0.28314	9.860000|9.860000	0.99555|0.99555	2.635000|2.635000	0.89317|0.89317	0.655000|0.655000	0.94253|0.94253	GAG|GGA	NF2	-	pirsf_ERM,pfam_ERM_C		0.607	NF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NF2	HGNC	protein_coding	OTTHUMT00000075615.3	G	NM_000268		30070877	+1	no_errors	ENST00000338641	ensembl	human	known	70_37	nonsense	SNP	1.000	T
NLRP1	22861	genome.wustl.edu	37	17	5456859	5456859	+	Missense_Mutation	SNP	A	A	T			TCGA-EK-A2H1-01A-11D-A17W-09	TCGA-EK-A2H1-10A-01D-A17W-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e18b908-26a3-4f67-9d6d-cfc889c2ec18	6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e	g.chr17:5456859A>T	ENST00000572272.1	-	5	2374	c.2375T>A	c.(2374-2376)gTc>gAc	p.V792D	NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000262467.5_Missense_Mutation_p.V792D|NLRP1_ENST00000577119.1_Missense_Mutation_p.V792D|NLRP1_ENST00000354411.3_Missense_Mutation_p.V792D|NLRP1_ENST00000345221.3_Missense_Mutation_p.V792D|NLRP1_ENST00000269280.4_Missense_Mutation_p.V792D			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	792					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of inflammatory response (GO:0050727)|response to muramyl dipeptide (GO:0032495)	cytosol (GO:0005829)|intracellular (GO:0005622)|NLRP1 inflammasome complex (GO:0072558)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				GGCATCTGTGACTGGGACCCA	0.562																																																	0													75.0	68.0	71.0					17																	5456859		2203	4300	6503	SO:0001583	missense	22861			AB023143	CCDS32537.1, CCDS42244.1, CCDS42245.1, CCDS42246.1, CCDS58508.1	17p13	2014-01-29	2006-12-08	2006-12-08	ENSG00000091592	ENSG00000091592		"""Nucleotide-binding domain and leucine rich repeat containing"""	14374	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1"""	606636	"""NACHT, leucine rich repeat and PYD (pyrin domain) containing 1"", ""systemic lupus erythematosus, vitiligo-related 1"""	NALP1, SLEV1		8781126, 12563287, 17377159	Standard	NM_033006		Approved	KIAA0926, DKFZp586O1822, CARD7, NAC, CLR17.1, DEFCAP, VAMAS1	uc002gci.3	Q9C000		ENST00000572272.1:c.2375T>A	17.37:g.5456859A>T	ENSP00000460475:p.Val792Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Missense_Mutation	SNP	pfam_CARD,pfam_DAPIN,pfam_Leu-rich_rpt,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD,pfscan_DAPIN,prints_Disease_R	p.V792D	ENST00000572272.1	37	c.2375	CCDS42246.1	17	.	.	.	.	.	.	.	.	.	.	A	13.23	2.176145	0.38413	.	.	ENSG00000091592	ENST00000544378;ENST00000262467;ENST00000269280;ENST00000354411;ENST00000345221;ENST00000537069	T;T;T;T;T	0.55234	0.53;0.53;0.53;0.53;0.53	3.89	1.67	0.24075	.	0.844837	0.09650	N	0.773854	T	0.51415	0.1673	L	0.54323	1.7	0.28796	N	0.899052	P;P;P;P;P;P	0.51147	0.897;0.941;0.941;0.835;0.942;0.835	P;P;P;B;P;P	0.47705	0.543;0.555;0.474;0.342;0.543;0.514	T	0.47686	-0.9098	10	0.72032	D	0.01	.	5.6284	0.17495	0.7756:0.0:0.2244:0.0	.	58;792;792;792;792;792	F5H042;Q9C000-3;Q9C000-4;Q9C000;Q9C000-2;E9PE50	.;.;.;NALP1_HUMAN;.;.	D	792;792;792;792;792;58	ENSP00000442029:V792D;ENSP00000262467:V792D;ENSP00000269280:V792D;ENSP00000346390:V792D;ENSP00000324366:V792D	ENSP00000262467:V792D	V	-	2	0	NLRP1	5397583	0.245000	0.23899	0.022000	0.16811	0.011000	0.07611	2.650000	0.46665	0.330000	0.23485	-0.274000	0.10170	GTC	NLRP1	-	NULL		0.562	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NLRP1	HGNC	protein_coding	OTTHUMT00000439517.1	A	NM_033004		5456859	-1	no_errors	ENST00000572272	ensembl	human	known	70_37	missense	SNP	0.504	T
PLEKHG5	57449	genome.wustl.edu	37	1	6531079	6531079	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2H1-01A-11D-A17W-09	TCGA-EK-A2H1-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e18b908-26a3-4f67-9d6d-cfc889c2ec18	6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e	g.chr1:6531079C>T	ENST00000400915.3	-	14	1597	c.1531G>A	c.(1531-1533)Gac>Aac	p.D511N	PLEKHG5_ENST00000340850.5_Missense_Mutation_p.D455N|PLEKHG5_ENST00000377748.1_Missense_Mutation_p.D532N|PLEKHG5_ENST00000377740.3_Missense_Mutation_p.D532N|PLEKHG5_ENST00000377732.1_Missense_Mutation_p.D492N|PLEKHG5_ENST00000537245.1_Missense_Mutation_p.D534N|PLEKHG5_ENST00000377725.1_Missense_Mutation_p.D455N|PLEKHG5_ENST00000377737.2_Missense_Mutation_p.D455N|PLEKHG5_ENST00000377728.3_Missense_Mutation_p.D455N|PLEKHG5_ENST00000400913.1_Missense_Mutation_p.D455N|PLEKHG5_ENST00000535355.1_Missense_Mutation_p.D524N|PLEKHG5_ENST00000544978.1_Missense_Mutation_p.D455N	NM_001042663.1	NP_001036128.1	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	511	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|endothelial cell chemotaxis (GO:0035767)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		AGGTCGTTGTCGCGCAGCAGG	0.706																																																	0													23.0	21.0	22.0					1																	6531079		2198	4297	6495	SO:0001583	missense	57449			AK024676	CCDS79.1, CCDS41240.1, CCDS41241.1, CCDS57967.1, CCDS57968.1, CCDS57969.1	1p36.31	2014-09-17		2005-08-09	ENSG00000171680	ENSG00000171680		"""Pleckstrin homology (PH) domain containing"""	29105	protein-coding gene	gene with protein product	"""synectin-binding guanine exchange factor"""	611101				17564964	Standard	NM_001042663		Approved	KIAA0720, Syx, GEF720, Tech	uc010nzr.1	O94827	OTTHUMG00000000905	ENST00000400915.3:c.1531G>A	1.37:g.6531079C>T	ENSP00000383706:p.Asp511Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KU07|B7Z2M3|B7Z5X2|F5GZ21|F5H1I0|Q5SY17|Q5T8W5|Q5T8W9|Q6ZNM0|Q7Z436|Q86YD8|Q96BS1	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.D534N	ENST00000400915.3	37	c.1600	CCDS41241.1	1	.	.	.	.	.	.	.	.	.	.	C	18.65	3.670330	0.67814	.	.	ENSG00000171680	ENST00000377748;ENST00000340850;ENST00000400913;ENST00000400915;ENST00000377740;ENST00000377732;ENST00000377728;ENST00000377725;ENST00000535355;ENST00000377737;ENST00000535966;ENST00000537245;ENST00000544978	T;T;T;T;T;T;T;T;T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3;-0.3;-0.3;-0.3;-0.3;-0.3;-0.3;-0.3;-0.3	4.74	4.74	0.60224	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	T	0.52141	0.1716	L	0.31526	0.94	0.80722	D	1	B;B;B;P;B	0.36110	0.004;0.191;0.026;0.537;0.344	B;B;B;B;B	0.28553	0.005;0.055;0.021;0.085;0.091	T	0.54450	-0.8292	10	0.33141	T	0.24	-29.3422	16.264	0.82565	0.0:1.0:0.0:0.0	.	524;455;532;532;511	F5GZ21;O94827-4;Q5SY18;O94827-2;O94827	.;.;.;.;PKHG5_HUMAN	N	532;455;455;511;532;492;455;455;524;455;361;534;455	ENSP00000366977:D532N;ENSP00000344570:D455N;ENSP00000383704:D455N;ENSP00000383706:D511N;ENSP00000366969:D532N;ENSP00000366961:D492N;ENSP00000366957:D455N;ENSP00000366954:D455N;ENSP00000441445:D524N;ENSP00000366966:D455N;ENSP00000439625:D534N;ENSP00000437710:D455N	ENSP00000344570:D455N	D	-	1	0	PLEKHG5	6453666	1.000000	0.71417	0.994000	0.49952	0.986000	0.74619	5.414000	0.66405	2.155000	0.67459	0.462000	0.41574	GAC	PLEKHG5	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain		0.706	PLEKHG5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLEKHG5	HGNC	protein_coding	OTTHUMT00000002631.1	C	NM_020631		6531079	-1	no_errors	ENST00000537245	ensembl	human	known	70_37	missense	SNP	1.000	T
OBSCN	84033	genome.wustl.edu	37	1	228480445	228480445	+	Missense_Mutation	SNP	G	G	A	rs374049885		TCGA-EK-A2H1-01A-11D-A17W-09	TCGA-EK-A2H1-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e18b908-26a3-4f67-9d6d-cfc889c2ec18	6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e	g.chr1:228480445G>A	ENST00000422127.1	+	40	10869	c.10825G>A	c.(10825-10827)Gtg>Atg	p.V3609M	OBSCN_ENST00000284548.11_Missense_Mutation_p.V3609M|OBSCN_ENST00000359599.6_Missense_Mutation_p.V2456M|OBSCN_ENST00000366709.4_Missense_Mutation_p.V728M|OBSCN_ENST00000366707.4_Missense_Mutation_p.V728M|OBSCN_ENST00000570156.2_Missense_Mutation_p.V4038M	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3609	Ig-like 36.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GTACTCGTGCGTGTGCGGGCA	0.577																																																	0								G	MET/VAL,MET/VAL	1,4289		0,1,2144	120.0	122.0	121.0		10825,10825	1.5	0.0	1		121	1,8483		0,1,4241	no	missense,missense	OBSCN	NM_001098623.1,NM_052843.2	21,21	0,2,6385	AA,AG,GG		0.0118,0.0233,0.0157	benign,benign	3609/7969,3609/6621	228480445	2,12772	2145	4242	6387	SO:0001583	missense	84033			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.10825G>A	1.37:g.228480445G>A	ENSP00000409493:p.Val3609Met	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain	p.V3609M	ENST00000422127.1	37	c.10825	CCDS58065.1	1	.	.	.	.	.	.	.	.	.	.	G	14.32	2.499541	0.44455	2.33E-4	1.18E-4	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709;ENST00000359599	T;T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35;-0.35	5.38	1.45	0.22620	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.167348	0.41097	N	0.000958	T	0.68348	0.2991	M	0.81112	2.525	0.22266	N	0.999248	P;P	0.48407	0.91;0.89	P;P	0.46585	0.521;0.454	T	0.60860	-0.7179	10	0.33940	T	0.23	.	10.045	0.42182	0.2732:0.0:0.7268:0.0	.	3609;3609	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	M	3609;3609;728;728;2456	ENSP00000284548:V3609M;ENSP00000409493:V3609M;ENSP00000355668:V728M;ENSP00000355670:V728M;ENSP00000352613:V2456M	ENSP00000284548:V3609M	V	+	1	0	OBSCN	226547068	0.000000	0.05858	0.005000	0.12908	0.025000	0.11179	-0.104000	0.10923	0.017000	0.15025	0.561000	0.74099	GTG	OBSCN	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.577	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	HGNC	protein_coding		G	NM_052843		228480445	+1	no_errors	ENST00000422127	ensembl	human	known	70_37	missense	SNP	0.518	A
PSPH	5723	genome.wustl.edu	37	7	56079283	56079283	+	3'UTR	DEL	A	A	-	rs71015155		TCGA-EK-A2H1-01A-11D-A17W-09	TCGA-EK-A2H1-10A-01D-A17W-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e18b908-26a3-4f67-9d6d-cfc889c2ec18	6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e	g.chr7:56079283delA	ENST00000395471.3	-	0	1655				PSPH_ENST00000275605.3_3'UTR|PSPH_ENST00000459834.1_5'UTR			P78330	SERB_HUMAN	phosphoserine phosphatase						cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|dephosphorylation (GO:0016311)|L-serine biosynthetic process (GO:0006564)|L-serine metabolic process (GO:0006563)|response to mechanical stimulus (GO:0009612)|response to nutrient levels (GO:0031667)|response to testosterone (GO:0033574)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)	calcium ion binding (GO:0005509)|magnesium ion binding (GO:0000287)|phosphoserine phosphatase activity (GO:0004647)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(1)|skin(1)	11	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			AACTACAGTTAAAAAAAAAAA	0.338																																																	0																																										SO:0001624	3_prime_UTR_variant	5723			Y10275	CCDS5522.1	7p11.2	2012-10-02			ENSG00000146733	ENSG00000146733	3.1.3.3		9577	protein-coding gene	gene with protein product		172480		PSP		6297854, 9188776	Standard	NM_004577		Approved		uc003trh.3	P78330	OTTHUMG00000023441	ENST00000395471.3:c.*172T>-	7.37:g.56079283delA		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RCR5|Q7Z3S5	RNA	DEL	-	NULL	ENST00000395471.3	37	NULL	CCDS5522.1	7																																																																																			PSPH	-	-		0.338	PSPH-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PSPH	HGNC	protein_coding	OTTHUMT00000343304.1	A	NM_004577		56079283	-1	no_errors	ENST00000459834	ensembl	human	known	70_37	rna	DEL	0.001	-
RBM3	5935	genome.wustl.edu	37	X	48434778	48434778	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2H1-01A-11D-A17W-09	TCGA-EK-A2H1-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e18b908-26a3-4f67-9d6d-cfc889c2ec18	6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e	g.chrX:48434778C>T	ENST00000376759.3	+	4	350	c.287C>T	c.(286-288)gCc>gTc	p.A96V	RBM3_ENST00000354480.2_Missense_Mutation_p.P69S|AC115618.1_ENST00000376775.2_5'Flank|RBM3_ENST00000430348.2_Missense_Mutation_p.P69S|RBM3_ENST00000466764.1_3'UTR|RBM3_ENST00000376755.1_Missense_Mutation_p.A96V	NM_006743.4	NP_006734.1	P98179	RBM3_HUMAN	RNA binding motif (RNP1, RRM) protein 3	96	Gly-rich.				positive regulation of translation (GO:0045727)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|regulation of translation (GO:0006417)|response to cold (GO:0009409)|RNA processing (GO:0006396)|translation (GO:0006412)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ribosomal large subunit binding (GO:0043023)|RNA binding (GO:0003723)			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	4						GGCTTTGGGGCCCATGGGCGT	0.547																																																	0													65.0	52.0	57.0					X																	48434778		2203	4300	6503	SO:0001583	missense	5935			BC006825	CCDS14301.1	Xp11.2	2014-05-19	2004-04-23		ENSG00000102317	ENSG00000102317		"""RNA binding motif (RRM) containing"""	9900	protein-coding gene	gene with protein product		300027	"""RNA binding motif protein 3"""			8634703	Standard	NM_006743		Approved	IS1-RNPL	uc004dkf.2	P98179	OTTHUMG00000024121	ENST00000376759.3:c.287C>T	X.37:g.48434778C>T	ENSP00000365950:p.Ala96Val	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.P69S	ENST00000376759.3	37	c.205	CCDS14301.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.85|12.85	2.062554|2.062554	0.36373|0.36373	.|.	.|.	ENSG00000102317|ENSG00000102317	ENST00000376759;ENST00000376755|ENST00000430348;ENST00000354480	T;T|.	0.74209|.	-0.82;-0.82|.	4.57|4.57	-1.16|-1.16	0.09678|0.09678	.|.	964.516000|.	0.01815|.	U|.	0.033663|.	T|T	0.37652|0.37652	0.1011|0.1011	L|L	0.36672|0.36672	1.1|1.1	0.09310|0.09310	N|N	1|1	B|.	0.18461|.	0.028|.	B|.	0.08055|.	0.003|.	T|T	0.43814|0.43814	-0.9368|-0.9368	10|6	0.54805|0.87932	T|D	0.06|0	-0.1293|-0.1293	9.8635|9.8635	0.41129|0.41129	0.0:0.382:0.5285:0.0894|0.0:0.382:0.5285:0.0894	.|.	96|.	P98179|.	RBM3_HUMAN|.	V|S	96|69	ENSP00000365950:A96V;ENSP00000365946:A96V|.	ENSP00000365946:A96V|ENSP00000346473:P69S	A|P	+|+	2|1	0|0	RBM3|RBM3	48319722|48319722	0.988000|0.988000	0.35896|0.35896	0.896000|0.896000	0.35187|0.35187	0.732000|0.732000	0.41865|0.41865	0.746000|0.746000	0.26275|0.26275	-0.161000|-0.161000	0.10983|0.10983	-0.305000|-0.305000	0.09177|0.09177	GCC|CCC	RBM3	-	NULL		0.547	RBM3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM3	HGNC	protein_coding	OTTHUMT00000060755.1	C	NM_006743		48434778	+1	no_errors	ENST00000430348	ensembl	human	known	70_37	missense	SNP	0.332	T
RSPH14	27156	genome.wustl.edu	37	22	23478486	23478486	+	Intron	SNP	C	C	T			TCGA-EK-A2H1-01A-11D-A17W-09	TCGA-EK-A2H1-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e18b908-26a3-4f67-9d6d-cfc889c2ec18	6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e	g.chr22:23478486C>T	ENST00000216036.4	-	4	499				RTDR1_ENST00000406876.1_Silent_p.*109*|AC000029.1_ENST00000408142.1_RNA	NM_014433.2	NP_055248.1	Q9UHP6	RTDR1_HUMAN												breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.175)		CTGCTATCCTCATTCCCCCTT	0.532																																																	0																																										SO:0001627	intron_variant	27156																														ENST00000216036.4:c.303-2155G>A	22.37:g.23478486C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	superfamily_ARM-type_fold	p.*109	ENST00000216036.4	37	c.326	CCDS13803.1	22																																																																																			RTDR1	-	NULL		0.532	RTDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTDR1	HGNC	protein_coding	OTTHUMT00000319049.1	C			23478486	-1	no_errors	ENST00000406876	ensembl	human	putative	70_37	silent	SNP	0.021	T
SARS	6301	genome.wustl.edu	37	1	109779286	109779286	+	Intron	SNP	C	C	G			TCGA-EK-A2H1-01A-11D-A17W-09	TCGA-EK-A2H1-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e18b908-26a3-4f67-9d6d-cfc889c2ec18	6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e	g.chr1:109779286C>G	ENST00000234677.2	+	9	1332				SARS_ENST00000369923.4_Intron|SARS_ENST00000468588.1_3'UTR	NM_006513.3	NP_006504.2	P49591	SYSC_HUMAN	seryl-tRNA synthetase						gene expression (GO:0010467)|selenocysteinyl-tRNA(Sec) biosynthetic process (GO:0097056)|seryl-tRNA aminoacylation (GO:0006434)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)|tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|RNA binding (GO:0003723)|serine-tRNA ligase activity (GO:0004828)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	17		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233)	L-Serine(DB00133)	CTGAGCTTCTCAATCTAGACC	0.458																																																	0																																										SO:0001627	intron_variant	6301			BC009390	CCDS795.1	1p13.3	2011-07-01			ENSG00000031698	ENSG00000031698	6.1.1.11	"""Aminoacyl tRNA synthetases / Class II"""	10537	protein-coding gene	gene with protein product	"""serine tRNA ligase 1, cytoplasmic"""	607529				9431993	Standard	NM_006513		Approved	SERS	uc001dwu.2	P49591	OTTHUMG00000011726	ENST00000234677.2:c.1257+116C>G	1.37:g.109779286C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R6Y9|Q5T5C8|Q9NSE3	RNA	SNP	-	NULL	ENST00000234677.2	37	NULL	CCDS795.1	1																																																																																			SARS	-	-		0.458	SARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SARS	HGNC	protein_coding	OTTHUMT00000032394.2	C	NM_006513		109779286	+1	no_errors	ENST00000468588	ensembl	human	known	70_37	rna	SNP	0.078	G
SEC14L4	284904	genome.wustl.edu	37	22	30887561	30887561	+	Splice_Site	SNP	G	G	C			TCGA-EK-A2H1-01A-11D-A17W-09	TCGA-EK-A2H1-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e18b908-26a3-4f67-9d6d-cfc889c2ec18	6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e	g.chr22:30887561G>C	ENST00000255858.7	-	11	1163	c.1080C>G	c.(1078-1080)gtC>gtG	p.V360V	SEC14L4_ENST00000381982.3_Splice_Site_p.V360V|SEC14L4_ENST00000392772.2_Splice_Site_p.V306V|RP4-539M6.14_ENST00000442126.1_RNA|SEC14L4_ENST00000540456.1_Splice_Site_p.V345V|RP4-539M6.14_ENST00000610156.1_RNA	NM_001161368.1|NM_174977.3	NP_001154840.1|NP_777637.1	Q9UDX3	S14L4_HUMAN	SEC14-like 4 (S. cerevisiae)	360	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.					integral component of membrane (GO:0016021)|intracellular (GO:0005622)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21					Vitamin E(DB00163)	AGCTCTTACAGACGCCAGCCT	0.602																																																	0													61.0	61.0	61.0					22																	30887561		2203	4300	6503	SO:0001630	splice_region_variant	284904			AY158085	CCDS13878.1, CCDS54517.1	22q12.1	2003-03-10			ENSG00000133488	ENSG00000133488			20627	protein-coding gene	gene with protein product		612825					Standard	NM_174977		Approved	TAP3, dJ130H16.5	uc003aid.2	Q9UDX3	OTTHUMG00000151258	ENST00000255858.7:c.1081+1C>G	22.37:g.30887561G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A5D6W7|A6NCV4	Silent	SNP	pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_GOLD,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,prints_CRAL-bd_toc_tran	p.V360	ENST00000255858.7	37	c.1080	CCDS13878.1	22																																																																																			SEC14L4	-	superfamily_GOLD,pfscan_GOLD		0.602	SEC14L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC14L4	HGNC	protein_coding	OTTHUMT00000321946.1	G	NM_174977	Silent	30887561	-1	no_errors	ENST00000255858	ensembl	human	known	70_37	silent	SNP	1.000	C
SECTM1	6398	genome.wustl.edu	37	17	80280224	80280224	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A2H1-01A-11D-A17W-09	TCGA-EK-A2H1-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e18b908-26a3-4f67-9d6d-cfc889c2ec18	6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e	g.chr17:80280224G>T	ENST00000269389.3	-	5	910	c.560C>A	c.(559-561)cCc>cAc	p.P187H	SECTM1_ENST00000580437.1_3'UTR	NM_003004.2	NP_002995.1	Q8WVN6	SCTM1_HUMAN	secreted and transmembrane 1	187					immune response (GO:0006955)|mesoderm development (GO:0007498)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cytokine activity (GO:0005125)|signal transducer activity (GO:0004871)			endometrium(1)|large_intestine(2)|lung(1)	4	Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249)		OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833)			CTTCATCTGGGGTTCTAGGAG	0.677																																																	0													53.0	60.0	57.0					17																	80280224		2203	4300	6503	SO:0001583	missense	6398			U77643	CCDS11808.1	17q25	2008-07-18				ENSG00000141574			10707	protein-coding gene	gene with protein product	"""K12 protein"", ""type 1a transmembrane protein"""	602602				9480746	Standard	NM_003004		Approved	K12	uc002keo.3	Q8WVN6		ENST00000269389.3:c.560C>A	17.37:g.80280224G>T	ENSP00000269389:p.Pro187His	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R7H0|O00466	Missense_Mutation	SNP	NULL	p.P187H	ENST00000269389.3	37	c.560	CCDS11808.1	17	.	.	.	.	.	.	.	.	.	.	G	6.322	0.427496	0.11987	.	.	ENSG00000141574	ENST00000269389	.	.	.	0.965	-1.35	0.09114	.	.	.	.	.	T	0.22437	0.0541	N	0.14661	0.345	0.09310	N	1	D;D	0.65815	0.995;0.995	P;P	0.52514	0.701;0.701	T	0.13845	-1.0494	8	0.87932	D	0	.	4.0098	0.09618	0.5066:0.0:0.4934:0.0	.	187;187	Q8WVN6;A8K3U3	SCTM1_HUMAN;.	H	187	.	ENSP00000269389:P187H	P	-	2	0	SECTM1	77873513	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.561000	0.05957	-0.493000	0.06678	-0.444000	0.05651	CCC	SECTM1	-	NULL		0.677	SECTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SECTM1	HGNC	protein_coding	OTTHUMT00000442856.1	G	NM_003004		80280224	-1	no_errors	ENST00000269389	ensembl	human	known	70_37	missense	SNP	0.000	T
SGK223	157285	genome.wustl.edu	37	8	8176083	8176083	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2H1-01A-11D-A17W-09	TCGA-EK-A2H1-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e18b908-26a3-4f67-9d6d-cfc889c2ec18	6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e	g.chr8:8176083C>T	ENST00000520004.1	-	6	4066	c.3802G>A	c.(3802-3804)Gag>Aag	p.E1268K	SGK223_ENST00000330777.4_Missense_Mutation_p.E1268K			Q86YV5	SG223_HUMAN		1272	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										GCGCGCACCTCGAACGGGTTG	0.657																																					GBM(34;731 755 10259 33573 33867)												0													25.0	30.0	29.0					8																	8176083		2028	4167	6195	SO:0001583	missense	157285																														ENST00000520004.1:c.3802G>A	8.37:g.8176083C>T	ENSP00000428054:p.Glu1268Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8N3N5	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom	p.E1268K	ENST00000520004.1	37	c.3802	CCDS43706.1	8	.	.	.	.	.	.	.	.	.	.	C	33	5.218153	0.95104	.	.	ENSG00000182319	ENST00000330777;ENST00000520004	T;T	0.64803	-0.12;-0.12	5.48	4.6	0.57074	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.70219	0.3199	L	0.46885	1.475	0.52099	D	0.999944	D	0.76494	0.999	D	0.63793	0.918	T	0.71745	-0.4500	10	0.66056	D	0.02	.	13.1563	0.59520	0.0:0.923:0.0:0.077	.	1268	Q86YV5	SG223_HUMAN	K	1268	ENSP00000330930:E1268K;ENSP00000428054:E1268K	ENSP00000330930:E1268K	E	-	1	0	AC068353.1	8213493	1.000000	0.71417	0.990000	0.47175	0.992000	0.81027	6.005000	0.70716	2.748000	0.94277	0.462000	0.41574	GAG	SGK223	-	pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom		0.657	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGK223	Uniprot_genename	protein_coding	OTTHUMT00000374864.1	C			8176083	-1	no_errors	ENST00000330777	ensembl	human	known	70_37	missense	SNP	1.000	T
SMAP1	60682	genome.wustl.edu	37	6	71508370	71508370	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EK-A2H1-01A-11D-A17W-09	TCGA-EK-A2H1-10A-01D-A17W-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e18b908-26a3-4f67-9d6d-cfc889c2ec18	6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e	g.chr6:71508370delA	ENST00000370455.3	+	6	754	c.506delA	c.(505-507)gaafs	p.E169fs	SMAP1_ENST00000370452.3_Frame_Shift_Del_p.E142fs|SMAP1_ENST00000316999.5_Frame_Shift_Del_p.E142fs	NM_001044305.1|NM_001281440.1	NP_001037770.1|NP_001268369.1	Q8IYB5	SMAP1_HUMAN	small ArfGAP 1	169					positive regulation of erythrocyte differentiation (GO:0045648)|regulation of ARF GTPase activity (GO:0032312)|regulation of clathrin-mediated endocytosis (GO:2000369)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.K145fs*48(1)		breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1)	15						aaagaaaaggaaaaaaaaaag	0.289																																																	1	Deletion - Frameshift(1)	prostate(1)											23.0	28.0	26.0					6																	71508370		2184	4254	6438	SO:0001589	frameshift_variant	60682			AK023221	CCDS4973.1, CCDS43478.1, CCDS64459.1, CCDS75478.1	6q12-q13	2009-11-30	2008-09-05		ENSG00000112305	ENSG00000112305		"""ADP-ribosylation factor GTPase activating proteins"""	19651	protein-coding gene	gene with protein product		611372	"""stromal membrane-associated protein 1"", ""stromal membrane-associated GTPase-activating protein 1"""			9644265, 12119110	Standard	NM_001044305		Approved	FLJ13159, SMAP-1	uc003pfr.3	Q8IYB5	OTTHUMG00000014996	ENST00000370455.3:c.506delA	6.37:g.71508370delA	ENSP00000359484:p.Glu169fs	Somatic		WXS	Illumina HiSeq	Phase_IV	Q53H70|Q5SYQ2|Q6PK24|Q8NDH4|Q96L38|Q96L39|Q9H8X4	Frame_Shift_Del	DEL	pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP	p.K172fs	ENST00000370455.3	37	c.506	CCDS43478.1	6																																																																																			SMAP1	-	NULL		0.289	SMAP1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	SMAP1	HGNC	protein_coding	OTTHUMT00000041149.1	A	NM_001044305		71508370	+1	no_errors	ENST00000370455	ensembl	human	known	70_37	frame_shift_del	DEL	1.000	-
SNHG14	104472715	genome.wustl.edu	37	15	25481267	25481267	+	RNA	SNP	G	G	A			TCGA-EK-A2H1-01A-11D-A17W-09	TCGA-EK-A2H1-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e18b908-26a3-4f67-9d6d-cfc889c2ec18	6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e	g.chr15:25481267G>A	ENST00000453082.2	+	0	1934				SNORD115-37_ENST00000363768.1_RNA|SNORD115-35_ENST00000365122.1_RNA|SNORD115-36_ENST00000365629.1_RNA	NR_003343.1				small nucleolar RNA host gene 14 (non-protein coding)																		GTCCTGAAGAGAGGTGATGAC	0.478																																																	0													402.0	417.0	413.0					15																	25481267		876	1989	2865			100033810					15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25481267G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000453082.2	37	NULL		15																																																																																			SNORD115-36	-	-		0.478	SNHG14-003	KNOWN	non_canonical_TEC|basic	antisense	SNORD115-36	HGNC	processed_transcript	OTTHUMT00000126730.2	G			25481267	+1	no_errors	ENST00000365629	ensembl	human	known	70_37	rna	SNP	0.998	A
SPECC1	92521	genome.wustl.edu	37	17	20108175	20108175	+	Silent	SNP	C	C	T			TCGA-EK-A2H1-01A-11D-A17W-09	TCGA-EK-A2H1-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e18b908-26a3-4f67-9d6d-cfc889c2ec18	6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e	g.chr17:20108175C>T	ENST00000261503.5	+	4	864	c.813C>T	c.(811-813)ggC>ggT	p.G271G	SPECC1_ENST00000395529.3_Silent_p.G271G|SPECC1_ENST00000395530.2_Silent_p.G190G|SPECC1_ENST00000395527.4_Silent_p.G271G|SPECC1_ENST00000584527.1_5'Flank|SPECC1_ENST00000395525.3_Silent_p.G190G|SPECC1_ENST00000472876.1_Intron|SPECC1_ENST00000395522.2_Silent_p.G190G|SPECC1_ENST00000536879.1_Intron|AC004702.2_ENST00000580225.1_lincRNA	NM_001033553.2	NP_001028725.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1	271	Ser-rich.				cell adhesion (GO:0007155)	nucleus (GO:0005634)				breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		GTCACACTGGCGACAGCAGCT	0.463																																																	0													67.0	77.0	74.0					17																	20108175		2203	4300	6503	SO:0001819	synonymous_variant	92521			AY816329, AB041533	CCDS32590.1, CCDS42280.1, CCDS42281.1, CCDS45628.1, CCDS58531.1	17p11.2	2012-11-19	2010-09-17	2010-09-17	ENSG00000128487	ENSG00000128487			30615	protein-coding gene	gene with protein product	"""sperm antigen HCMOGT 1"", ""cytokinesis and spindle organization B"", ""cytospin B"""	608793				15602574, 18763323, 15087372	Standard	NM_001033553		Approved	HCMOGT-1, FLJ36955, NSP, CYTSB	uc002gwq.3	Q5M775	OTTHUMG00000179808	ENST00000261503.5:c.813C>T	17.37:g.20108175C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DHH0|B7WNS8|Q5IBP1|Q5IBP2|Q5IBP3|Q5IBP4|Q5M772|Q5M773|Q5M774|Q86XT8|Q8N4U4|Q8WU84|Q9HCQ3	Silent	SNP	pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	p.G271	ENST00000261503.5	37	c.813	CCDS32590.1	17																																																																																			SPECC1	-	NULL		0.463	SPECC1-018	KNOWN	basic|appris_principal|CCDS	protein_coding	SPECC1	HGNC	protein_coding	OTTHUMT00000441206.1	C	NM_152904		20108175	+1	no_errors	ENST00000261503	ensembl	human	known	70_37	silent	SNP	0.004	T
TBC1D4	9882	genome.wustl.edu	37	13	75923387	75923387	+	Silent	SNP	G	G	A			TCGA-EK-A2H1-01A-11D-A17W-09	TCGA-EK-A2H1-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e18b908-26a3-4f67-9d6d-cfc889c2ec18	6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e	g.chr13:75923387G>A	ENST00000377636.3	-	5	1673	c.1327C>T	c.(1327-1329)Ctg>Ttg	p.L443L	TBC1D4_ENST00000377625.2_Silent_p.L443L|TBC1D4_ENST00000431480.2_Silent_p.L443L|TBC1D4_ENST00000425511.1_5'UTR	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	443	PID 2. {ECO:0000255|PROSITE- ProRule:PRU00148}.				cellular response to insulin stimulus (GO:0032869)|membrane organization (GO:0061024)|negative regulation of vesicle fusion (GO:0031339)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)	Rab GTPase activator activity (GO:0005097)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		GCACTCTGCAGGGCAGCCGCC	0.473																																																	0													49.0	53.0	51.0					13																	75923387		1930	4142	6072	SO:0001819	synonymous_variant	9882			AB011175	CCDS41901.1, CCDS66563.1, CCDS66564.1	13q22.2	2013-07-09			ENSG00000136111	ENSG00000136111			19165	protein-coding gene	gene with protein product	"""Akt substrate of 160 kDa"""	612465				11829485, 11994271, 15304337	Standard	XM_005266603		Approved	KIAA0603, AS160, DKFZp779C0666	uc001vjl.1	O60343	OTTHUMG00000017088	ENST00000377636.3:c.1327C>T	13.37:g.75923387G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A7E2X8|B4DU25|B4E235|B6ETN8|B6ETN9|Q5W0B9|Q68D14	Silent	SNP	pfam_Rab-GTPase-TBC_dom,pfam_DUF3350,pfam_PTyr_interaction_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTyr_interaction_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTyr_interaction_dom,pfscan_Rab-GTPase-TBC_dom	p.L443	ENST00000377636.3	37	c.1327	CCDS41901.1	13																																																																																			TBC1D4	-	smart_PTyr_interaction_dom		0.473	TBC1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D4	HGNC	protein_coding	OTTHUMT00000045283.1	G	NM_014832		75923387	-1	no_errors	ENST00000377636	ensembl	human	known	70_37	silent	SNP	1.000	A
TCF20	6942	genome.wustl.edu	37	22	42609199	42609199	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2H1-01A-11D-A17W-09	TCGA-EK-A2H1-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e18b908-26a3-4f67-9d6d-cfc889c2ec18	6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e	g.chr22:42609199G>C	ENST00000359486.3	-	1	2249	c.2113C>G	c.(2113-2115)Ctg>Gtg	p.L705V	TCF20_ENST00000335626.4_Missense_Mutation_p.L705V|TCF20_ENST00000404876.1_5'Flank	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	705					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						CTATAGCGCAGACTTCCAGGA	0.507																																																	0													134.0	130.0	131.0					22																	42609199		2203	4300	6503	SO:0001583	missense	6942			U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.2113C>G	22.37:g.42609199G>C	ENSP00000352463:p.Leu705Val	Somatic		WXS	Illumina HiSeq	Phase_IV	A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Missense_Mutation	SNP	smart_Znf_PHD	p.L705V	ENST00000359486.3	37	c.2113	CCDS14033.1	22	.	.	.	.	.	.	.	.	.	.	G	7.479	0.648276	0.14516	.	.	ENSG00000100207	ENST00000359486;ENST00000335626	T;T	0.59502	0.26;0.26	5.93	2.65	0.31530	.	0.264521	0.27581	N	0.018728	T	0.36744	0.0978	N	0.19112	0.55	0.80722	D	1	B;B	0.11235	0.004;0.002	B;B	0.13407	0.009;0.004	T	0.10800	-1.0614	10	0.46703	T	0.11	-5.2009	4.7804	0.13199	0.3002:0.2789:0.4209:0.0	.	705;705	Q9UGU0-2;Q9UGU0	.;TCF20_HUMAN	V	705	ENSP00000352463:L705V;ENSP00000335561:L705V	ENSP00000335561:L705V	L	-	1	2	TCF20	40939143	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	1.136000	0.31467	0.371000	0.24564	0.655000	0.94253	CTG	TCF20	-	NULL		0.507	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCF20	HGNC	protein_coding	OTTHUMT00000320531.1	G	NM_181492		42609199	-1	no_errors	ENST00000359486	ensembl	human	known	70_37	missense	SNP	0.998	C
THOC3	84321	genome.wustl.edu	37	5	175394547	175394548	+	Intron	INS	-	-	ACC	rs149268298|rs77670472|rs370589548		TCGA-EK-A2H1-01A-11D-A17W-09	TCGA-EK-A2H1-10A-01D-A17W-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e18b908-26a3-4f67-9d6d-cfc889c2ec18	6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e	g.chr5:175394547_175394548insACC	ENST00000265097.4	-	2	358				THOC3_ENST00000510300.1_5'UTR|THOC3_ENST00000513482.1_Intron|THOC3_ENST00000514861.1_Intron	NM_032361.2	NP_115737.1	Q96J01	THOC3_HUMAN	THO complex 3						mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			endometrium(1)|kidney(1)|large_intestine(2)	4	all_cancers(89;0.00406)|Renal(175;0.000269)|Lung NSC(126;0.0103)|all_lung(126;0.0164)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Kidney(146;0.0965)		accaccaacgtaccaccaccaa	0.55																																																	0																																										SO:0001627	intron_variant	84321			BC006849	CCDS4397.1	5q35.3	2013-02-11			ENSG00000051596	ENSG00000051596		"""WD repeat domain containing"", ""THO complex subunits"""	19072	protein-coding gene	gene with protein product		606929				11979277	Standard	NM_032361		Approved	TEX1, MGC5469	uc003mdg.5	Q96J01	OTTHUMG00000130658	ENST00000265097.4:c.268-277->GGT	5.37:g.175394554_175394556dupACC		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6NZ53	RNA	INS	-	NULL	ENST00000265097.4	37	NULL	CCDS4397.1	5																																																																																			THOC3	-	-		0.550	THOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THOC3	HGNC	protein_coding	OTTHUMT00000253148.1	-			175394548	-1	no_errors	ENST00000510300	ensembl	human	known	70_37	rna	INS	0.000:0.000	ACC
TPO	7173	genome.wustl.edu	37	2	1457571	1457571	+	Silent	SNP	G	G	A			TCGA-EK-A2H1-01A-11D-A17W-09	TCGA-EK-A2H1-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e18b908-26a3-4f67-9d6d-cfc889c2ec18	6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e	g.chr2:1457571G>A	ENST00000345913.4	+	6	679	c.588G>A	c.(586-588)ttG>ttA	p.L196L	TPO_ENST00000382201.3_Silent_p.L196L|TPO_ENST00000329066.4_Silent_p.L196L|TPO_ENST00000346956.3_Silent_p.L196L|TPO_ENST00000349624.3_Silent_p.L196L|TPO_ENST00000382198.1_Silent_p.L196L|TPO_ENST00000337415.3_Silent_p.L196L|TPO_ENST00000497517.2_Intron	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	196					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)	CCGGCTTCTTGTACAACGGGT	0.597																																																	0													39.0	43.0	42.0					2																	1457571		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.588G>A	2.37:g.1457571G>A		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.L196	ENST00000345913.4	37	c.588	CCDS1643.1	2																																																																																			TPO	-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal		0.597	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TPO	HGNC	protein_coding	OTTHUMT00000206594.2	G	NM_000547		1457571	+1	no_errors	ENST00000329066	ensembl	human	known	70_37	silent	SNP	0.000	A
VENTX	27287	genome.wustl.edu	37	10	135051484	135051484	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A2H1-01A-11D-A17W-09	TCGA-EK-A2H1-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e18b908-26a3-4f67-9d6d-cfc889c2ec18	6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e	g.chr10:135051484G>T	ENST00000325980.9	+	1	577	c.66G>T	c.(64-66)tgG>tgT	p.W22C		NM_014468.3	NP_055283.1	O95231	VENTX_HUMAN	VENT homeobox	22					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(1)	14		all_cancers(35;4.15e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)|all cancers(32;1.19e-05)		CCGTGGACTGGCTCTCCCAGA	0.736																																																	0													7.0	9.0	8.0					10																	135051484		2134	4249	6383	SO:0001583	missense	27287			AF068006	CCDS7675.1	10q26.3	2011-06-20	2011-06-01	2005-09-27	ENSG00000151650	ENSG00000151650		"""Homeoboxes / ANTP class : NKL subclass"""	13639	protein-coding gene	gene with protein product		607158	"""VENT-like homeobox 2"", ""VENT homeobox homolog (Xenopus laevis)"""	VENTX2		10790436	Standard	NM_014468		Approved	HPX42B	uc010quy.1	O95231	OTTHUMG00000019307	ENST00000325980.9:c.66G>T	10.37:g.135051484G>T	ENSP00000357556:p.Trp22Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q32MZ3	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.W22C	ENST00000325980.9	37	c.66	CCDS7675.1	10	.	.	.	.	.	.	.	.	.	.	G	14.79	2.641525	0.47153	.	.	ENSG00000151650	ENST00000325980	T	0.56444	0.46	2.44	2.44	0.29823	.	0.000000	0.85682	U	0.000000	T	0.53400	0.1794	N	0.24115	0.695	0.43381	D	0.995482	D	0.76494	0.999	D	0.79784	0.993	T	0.54077	-0.8347	10	0.54805	T	0.06	.	8.3857	0.32499	0.0:0.0:1.0:0.0	.	22	O95231	VENTX_HUMAN	C	22	ENSP00000357556:W22C	ENSP00000357556:W22C	W	+	3	0	VENTX	134901474	1.000000	0.71417	0.997000	0.53966	0.876000	0.50452	2.532000	0.45659	1.387000	0.46486	0.393000	0.25936	TGG	VENTX	-	NULL		0.736	VENTX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VENTX	HGNC	protein_coding	OTTHUMT00000051116.4	G	NM_014468		135051484	+1	no_errors	ENST00000325980	ensembl	human	known	70_37	missense	SNP	1.000	T
ZKSCAN1	7586	genome.wustl.edu	37	7	99621384	99621384	+	Silent	SNP	G	G	T			TCGA-EK-A2H1-01A-11D-A17W-09	TCGA-EK-A2H1-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e18b908-26a3-4f67-9d6d-cfc889c2ec18	6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e	g.chr7:99621384G>T	ENST00000324306.6	+	2	489	c.255G>T	c.(253-255)ctG>ctT	p.L85L	ZKSCAN1_ENST00000426572.1_Silent_p.L49L|ZKSCAN1_ENST00000535170.1_Intron	NM_003439.1	NP_003430.1	P17029	ZKSC1_HUMAN	zinc finger with KRAB and SCAN domains 1	85	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			ATCAGTGGCTGCGGCCAGAAA	0.537																																																	0													62.0	68.0	66.0					7																	99621384		2203	4300	6503	SO:0001819	synonymous_variant	7586			X52349	CCDS34698.1, CCDS69349.1, CCDS75640.1	7q22	2013-01-09	2004-11-16	2004-11-17	ENSG00000106261	ENSG00000106261		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13101	protein-coding gene	gene with protein product		601260	"""zinc finger protein 36 (KOX 18)"""	ZNF139, ZNF36			Standard	NM_001287055		Approved	KOX18, PHZ-37, ZSCAN33	uc003usk.1	P17029	OTTHUMG00000156534	ENST00000324306.6:c.255G>T	7.37:g.99621384G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A4D294|P52745|Q2M1U1|Q8TBW5|Q8TEK7	Silent	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.L85	ENST00000324306.6	37	c.255	CCDS34698.1	7																																																																																			ZKSCAN1	-	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN		0.537	ZKSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZKSCAN1	HGNC	protein_coding	OTTHUMT00000344550.2	G	NM_003439		99621384	+1	no_errors	ENST00000324306	ensembl	human	known	70_37	silent	SNP	0.033	T
ZNF177	7730	genome.wustl.edu	37	19	9491580	9491580	+	Silent	SNP	C	C	T			TCGA-EK-A2H1-01A-11D-A17W-09	TCGA-EK-A2H1-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e18b908-26a3-4f67-9d6d-cfc889c2ec18	6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e	g.chr19:9491580C>T	ENST00000589262.1	+	6	639	c.573C>T	c.(571-573)ctC>ctT	p.L191L	ZNF177_ENST00000446085.4_3'UTR|ZNF177_ENST00000602856.1_3'UTR|ZNF177_ENST00000602738.1_Intron|ZNF177_ENST00000590616.1_Intron|ZNF177_ENST00000434737.2_Silent_p.L191L|ZNF177_ENST00000343499.4_Intron|ZNF177_ENST00000541595.2_Intron	NM_001172651.1	NP_001166122.1	Q13360	ZN177_HUMAN	zinc finger protein 177	191					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	blood microparticle (GO:0072562)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|stomach(2)	13						AGTCATCCCTCAGGAAACACT	0.423																																																	0																																										SO:0001819	synonymous_variant	7730			U37263, BC012012	CCDS12212.1, CCDS54214.1	19p13.2	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	12966	protein-coding gene	gene with protein product		601276					Standard	NM_003451		Approved		uc021uon.1	Q13360		ENST00000589262.1:c.573C>T	19.37:g.9491580C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DY57|E9PDG0|I3L0I4|Q96ER2	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.L191	ENST00000589262.1	37	c.573	CCDS54214.1	19																																																																																			ZNF177	-	pfscan_Znf_C2H2		0.423	ZNF177-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF177	HGNC	protein_coding	OTTHUMT00000449028.1	C	NM_003451		9491580	+1	no_errors	ENST00000434737	ensembl	human	known	70_37	silent	SNP	0.000	T
