#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_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	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_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	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_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	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_MUTSIG_Published_Results	i_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	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_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_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
DIRAS3	9077	broad.mit.edu	37	1	68512452	68512452	+	Missense_Mutation	SNP	A	A	C			TCGA-J4-8200-01A-11D-A29Q-08	TCGA-J4-8200-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0045d518-7b93-44b2-bb7b-dc11c85b3c93	e0bbf450-eb07-4a04-bfb5-5d1a5e885209	g.chr1:68512452A>C	ENST00000370981.1	-	4	1165	c.529T>G	c.(529-531)Ttc>Gtc	p.F177V	DIRAS3_ENST00000395201.1_Missense_Mutation_p.F177V|GNG12-AS1_ENST00000413628.1_RNA|GNG12-AS1_ENST00000420587.1_RNA			O95661	DIRA3_HUMAN	DIRAS family, GTP-binding RAS-like 3	177					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of gene expression by genetic imprinting (GO:0006349)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						ATCTCCATGAAGGCGCAATTC	0.547																																						ENST00000370981.1																			0				NS(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(529-531)Ttc>Gtc		DIRAS family, GTP-binding RAS-like 3							120.0	118.0	118.0					1																	68512452		2203	4300	6503	SO:0001583	missense	9077				regulation of cyclin-dependent protein kinase activity|regulation of gene expression by genetic imprinting|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity	g.chr1:68512452A>C	U96750	CCDS641.1	1p31	2014-05-09		2005-01-27	ENSG00000162595	ENSG00000162595			687	protein-coding gene	gene with protein product		605193	"""ras homolog gene family, member I"""	ARHI		9874798	Standard	XM_006711027		Approved	NOEY2	uc001ded.3	O95661	OTTHUMG00000009544	ENST00000370981.1:c.529T>G	1.37:g.68512452A>C	ENSP00000360020:p.Phe177Val		Somatic				GNG12-AS1_ENST00000413628.1_RNA|DIRAS3_ENST00000395201.1_Missense_Mutation_p.F177V|GNG12-AS1_ENST00000420587.1_RNA	p.F177V			WXS	Illumina GAIIx	Phase_I	O95661	DIRA3_HUMAN			4	1165	-			177					B3KMP3	Missense_Mutation	SNP	ENST00000370981.1	37	c.529T>G	CCDS641.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.572546	0.86542	.	.	ENSG00000162595	ENST00000370981;ENST00000395201	D;D	0.82619	-1.63;-1.63	4.66	4.66	0.58398	Small GTP-binding protein domain (1);	.	.	.	.	D	0.92519	0.7624	H	0.95574	3.69	0.53688	D	0.999979	D	0.89917	1.0	D	0.85130	0.997	D	0.94620	0.7812	9	0.87932	D	0	.	14.1477	0.65360	1.0:0.0:0.0:0.0	.	177	O95661	DIRA3_HUMAN	V	177	ENSP00000360020:F177V;ENSP00000378627:F177V	ENSP00000360020:F177V	F	-	1	0	DIRAS3	68285040	1.000000	0.71417	0.950000	0.38849	0.730000	0.41778	5.397000	0.66302	1.877000	0.54381	0.529000	0.55759	TTC		0.547	DIRAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026354.2	NM_004675		14	116	14	116	---	---	---	---
NPHS2	7827	broad.mit.edu	37	1	179526351	179526351	+	Silent	SNP	G	G	A			TCGA-J4-8200-01A-11D-A29Q-08	TCGA-J4-8200-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0045d518-7b93-44b2-bb7b-dc11c85b3c93	e0bbf450-eb07-4a04-bfb5-5d1a5e885209	g.chr1:179526351G>A	ENST00000367615.4	-	5	617	c.549C>T	c.(547-549)gaC>gaT	p.D183D	NPHS2_ENST00000367616.4_Intron	NM_014625.2	NP_055440.1	Q9NP85	PODO_HUMAN	nephrosis 2, idiopathic, steroid-resistant (podocin)	183			D -> Y (in NPHS2). {ECO:0000269|PubMed:24227627}.		actin cytoskeleton reorganization (GO:0031532)|excretion (GO:0007588)|metanephric glomerular visceral epithelial cell development (GO:0072249)	cell-cell junction (GO:0005911)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)				NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						TTATAAACATGTCTTTGGTCA	0.418																																						ENST00000367615.4																			0				NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						c.(547-549)gaC>gaT		nephrosis 2, idiopathic, steroid-resistant (podocin)							108.0	98.0	101.0					1																	179526351		2203	4300	6503	SO:0001819	synonymous_variant	7827				excretion	integral to plasma membrane	protein binding	g.chr1:179526351G>A	AJ279254	CCDS1331.1, CCDS72988.1	1q25-q31	2014-06-27			ENSG00000116218	ENSG00000116218			13394	protein-coding gene	gene with protein product		604766				8589695, 10742096	Standard	XM_005245483		Approved	SRN1, PDCN	uc001gmq.4	Q9NP85	OTTHUMG00000035252	ENST00000367615.4:c.549C>T	1.37:g.179526351G>A			Somatic				NPHS2_ENST00000367616.4_Intron	p.D183D	NM_014625.2	NP_055440.1	WXS	Illumina GAIIx	Phase_I	Q9NP85	PODO_HUMAN			5	617	-			183					B1AM32|B1AM33|Q8N6Q5	Silent	SNP	ENST00000367615.4	37	c.549C>T	CCDS1331.1																																																																																				0.418	NPHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085283.1			12	35	12	35	---	---	---	---
OBSCN	84033	broad.mit.edu	37	1	228437915	228437915	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-8200-01A-11D-A29Q-08	TCGA-J4-8200-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0045d518-7b93-44b2-bb7b-dc11c85b3c93	e0bbf450-eb07-4a04-bfb5-5d1a5e885209	g.chr1:228437915G>A	ENST00000422127.1	+	14	4327	c.4283G>A	c.(4282-4284)cGg>cAg	p.R1428Q	OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000570156.2_Missense_Mutation_p.R1520Q|OBSCN_ENST00000284548.11_Missense_Mutation_p.R1428Q	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1428	Ig-like 14.			R -> Q (in Ref. 1; CAC85749). {ECO:0000305}.	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)				GGGGGCCAGCGGCTCTCCTTC	0.637																																						ENST00000570156.2																			0				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						c.(4558-4560)cGg>cAg		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							64.0	77.0	73.0					1																	228437915		2043	4179	6222	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228437915G>A	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.4283G>A	1.37:g.228437915G>A	ENSP00000409493:p.Arg1428Gln		Somatic				OBSCN_ENST00000422127.1_Missense_Mutation_p.R1428Q|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.R1428Q	p.R1520Q	NM_001271223.2	NP_001258152.2	WXS	Illumina GAIIx	Phase_I	Q5VST9	OBSCN_HUMAN			15	4633	+		Prostate(94;0.0405)	498			Ig-like 15.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.4559G>A	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	.	6.152	0.396253	0.11638	.	.	ENSG00000154358	ENST00000284548;ENST00000422127	T;T	0.04809	3.55;3.55	5.2	-5.24	0.02789	Immunoglobulin subtype (1);Immunoglobulin-like (1);	0.302419	0.29280	N	0.012614	T	0.03136	0.0092	L	0.43701	1.375	0.47009	D	0.99928	P;P	0.38677	0.642;0.584	B;B	0.33750	0.169;0.071	T	0.44251	-0.9340	10	0.18710	T	0.47	.	9.6524	0.39906	0.4715:0.1001:0.4284:0.0	.	1428;1428	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	Q	1428	ENSP00000284548:R1428Q;ENSP00000409493:R1428Q	ENSP00000284548:R1428Q	R	+	2	0	OBSCN	226504538	0.998000	0.40836	0.432000	0.26747	0.000000	0.00434	1.359000	0.34113	-0.967000	0.03582	-2.048000	0.00412	CGG		0.637	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		9	161	9	161	---	---	---	---
MGAT5	4249	broad.mit.edu	37	2	135206227	135206227	+	Missense_Mutation	SNP	G	G	T			TCGA-J4-8200-01A-11D-A29Q-08	TCGA-J4-8200-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0045d518-7b93-44b2-bb7b-dc11c85b3c93	e0bbf450-eb07-4a04-bfb5-5d1a5e885209	g.chr2:135206227G>T	ENST00000409645.1	+	17	2287	c.2035G>T	c.(2035-2037)Gtg>Ttg	p.V679L	MGAT5_ENST00000281923.2_Missense_Mutation_p.V679L			Q09328	MGT5A_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase	679					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		CAGGTACAAGGTGACCTGCCA	0.542																																						ENST00000409645.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36						c.(2035-2037)Gtg>Ttg		mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase							205.0	200.0	202.0					2																	135206227		2203	4300	6503	SO:0001583	missense	4249				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity	g.chr2:135206227G>T	D17716	CCDS2171.1	2q21	2013-02-25			ENSG00000152127	ENSG00000152127	2.4.1.155	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7049	protein-coding gene	gene with protein product		601774				8292036	Standard	NM_002410		Approved	GNT-V	uc002ttw.4	Q09328	OTTHUMG00000131681	ENST00000409645.1:c.2035G>T	2.37:g.135206227G>T	ENSP00000386377:p.Val679Leu		Somatic				MGAT5_ENST00000281923.2_Missense_Mutation_p.V679L	p.V679L			WXS	Illumina GAIIx	Phase_I	Q09328	MGT5A_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0964)	17	2287	+			679					D3DP70	Missense_Mutation	SNP	ENST00000409645.1	37	c.2035G>T	CCDS2171.1	.	.	.	.	.	.	.	.	.	.	G	15.69	2.907007	0.52333	.	.	ENSG00000152127	ENST00000409645;ENST00000281923	.	.	.	5.09	5.09	0.68999	.	0.110693	0.64402	D	0.000012	T	0.52058	0.1711	L	0.44542	1.39	0.51482	D	0.999925	B	0.15141	0.012	B	0.18263	0.021	T	0.48031	-0.9070	9	0.33940	T	0.23	-17.3054	10.1754	0.42935	0.125:0.0:0.875:0.0	.	679	Q09328	MGT5A_HUMAN	L	679	.	ENSP00000281923:V679L	V	+	1	0	MGAT5	134922697	1.000000	0.71417	0.571000	0.28486	0.934000	0.57294	3.167000	0.50793	2.533000	0.85409	0.655000	0.94253	GTG		0.542	MGAT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254584.3	NM_002410		5	223	5	223	---	---	---	---
CNTN6	27255	broad.mit.edu	37	3	1394066	1394066	+	Nonsense_Mutation	SNP	G	G	T			TCGA-J4-8200-01A-11D-A29Q-08	TCGA-J4-8200-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0045d518-7b93-44b2-bb7b-dc11c85b3c93	e0bbf450-eb07-4a04-bfb5-5d1a5e885209	g.chr3:1394066G>T	ENST00000446702.2	+	12	2050	c.1423G>T	c.(1423-1425)Gga>Tga	p.G475*	CNTN6_ENST00000539053.1_Nonsense_Mutation_p.G403*|CNTN6_ENST00000350110.2_Nonsense_Mutation_p.G475*			Q9UQ52	CNTN6_HUMAN	contactin 6	475	Ig-like C2-type 5.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		GTCAGATGCTGGATCATATAC	0.358																																						ENST00000446702.2																			0				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90						c.(1423-1425)Gga>Tga		contactin 6							101.0	94.0	97.0					3																	1394066		2203	4300	6503	SO:0001587	stop_gained	27255				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		g.chr3:1394066G>T	AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	2176	protein-coding gene	gene with protein product	"""neural adhesion molecule"""	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.1423G>T	3.37:g.1394066G>T	ENSP00000407822:p.Gly475*		Somatic				CNTN6_ENST00000350110.2_Nonsense_Mutation_p.G475*|CNTN6_ENST00000539053.1_Nonsense_Mutation_p.G403*	p.G475*			WXS	Illumina GAIIx	Phase_I	Q9UQ52	CNTN6_HUMAN		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)	12	2050	+		all_cancers(2;0.000164)|all_epithelial(2;0.107)	475			Ig-like C2-type 5.		Q2KHM2	Nonsense_Mutation	SNP	ENST00000446702.2	37	c.1423G>T	CCDS2557.1	.	.	.	.	.	.	.	.	.	.	G	45	11.470596	0.99565	.	.	ENSG00000134115	ENST00000446702;ENST00000539053;ENST00000350110	.	.	.	5.68	5.68	0.88126	.	0.000000	0.56097	D	0.000030	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.32	0.90234	0.0:0.0:1.0:0.0	.	.	.	.	X	475;403;475	.	ENSP00000341882:G475X	G	+	1	0	CNTN6	1369066	1.000000	0.71417	0.982000	0.44146	0.992000	0.81027	6.358000	0.73055	2.843000	0.97960	0.585000	0.79938	GGA		0.358	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239235.2	NM_014461		6	38	6	38	---	---	---	---
MMP16	4325	broad.mit.edu	37	8	89128918	89128918	+	Silent	SNP	T	T	G			TCGA-J4-8200-01A-11D-A29Q-08	TCGA-J4-8200-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0045d518-7b93-44b2-bb7b-dc11c85b3c93	e0bbf450-eb07-4a04-bfb5-5d1a5e885209	g.chr8:89128918T>G	ENST00000286614.6	-	6	1182	c.901A>C	c.(901-903)Aga>Cga	p.R301R	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	301					chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R301*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81					Marimastat(DB00786)	GGTAGAGGTCTTGTAGGTGGA	0.512																																						ENST00000286614.6																			1	Substitution - Nonsense(1)	p.R301*(1)	ovary(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						c.(901-903)Aga>Cga		matrix metallopeptidase 16 (membrane-inserted)							198.0	205.0	202.0					8																	89128918		2203	4300	6503	SO:0001819	synonymous_variant	4325				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	g.chr8:89128918T>G	D85511	CCDS6246.1	8q21	2009-01-09	2005-08-08		ENSG00000156103	ENSG00000156103			7162	protein-coding gene	gene with protein product		602262	"""matrix metalloproteinase 16 (membrane-inserted)"", ""chromosome 8 open reading frame 57"""	C8orf57		7559440	Standard	NM_005941		Approved	MT3-MMP, DKFZp761D112	uc003yeb.4	P51512	OTTHUMG00000163769	ENST00000286614.6:c.901A>C	8.37:g.89128918T>G			Somatic				MMP16_ENST00000544227.1_5'UTR	p.R301R	NM_005941.4	NP_005932.2	WXS	Illumina GAIIx	Phase_I	P51512	MMP16_HUMAN			6	1182	-			301					B2RAN7|Q14824|Q52H48	Silent	SNP	ENST00000286614.6	37	c.901A>C	CCDS6246.1																																																																																				0.512	MMP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375304.2	NM_005941		6	167	6	167	---	---	---	---
ANKRD26	22852	broad.mit.edu	37	10	27381415	27381415	+	Silent	SNP	T	T	A			TCGA-J4-8200-01A-11D-A29Q-08	TCGA-J4-8200-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0045d518-7b93-44b2-bb7b-dc11c85b3c93	e0bbf450-eb07-4a04-bfb5-5d1a5e885209	g.chr10:27381415T>A	ENST00000376087.4	-	4	723	c.558A>T	c.(556-558)gcA>gcT	p.A186A	ANKRD26_ENST00000436985.2_Silent_p.A186A	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	186					glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259)	actin filament (GO:0005884)|centrosome (GO:0005813)				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						TTCCACTTACTGCAAGTAAAA	0.338																																						ENST00000376087.4																			0				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						c.(556-558)gcA>gcT		ankyrin repeat domain 26							85.0	81.0	82.0					10																	27381415		1810	4072	5882	SO:0001819	synonymous_variant	22852					centrosome		g.chr10:27381415T>A	AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890		"""Ankyrin repeat domain containing"""	29186	protein-coding gene	gene with protein product		610855	"""thrombocytopenia 2 (autosomal dominant)"""	THC2		10470851, 21211618	Standard	NM_014915		Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.558A>T	10.37:g.27381415T>A			Somatic				ANKRD26_ENST00000436985.2_Silent_p.A186A	p.A186A	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	WXS	Illumina GAIIx	Phase_I	Q9UPS8	ANR26_HUMAN			4	723	-			186					A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Silent	SNP	ENST00000376087.4	37	c.558A>T	CCDS41499.1																																																																																				0.338	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047296.1			7	30	7	30	---	---	---	---
BBOX1	8424	broad.mit.edu	37	11	27077078	27077078	+	Nonsense_Mutation	SNP	T	T	A			TCGA-J4-8200-01A-11D-A29Q-08	TCGA-J4-8200-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0045d518-7b93-44b2-bb7b-dc11c85b3c93	e0bbf450-eb07-4a04-bfb5-5d1a5e885209	g.chr11:27077078T>A	ENST00000529202.1	+	2	440	c.101T>A	c.(100-102)tTg>tAg	p.L34*	BBOX1_ENST00000263182.3_Nonsense_Mutation_p.L34*|BBOX1_ENST00000527505.1_3'UTR|BBOX1_ENST00000528583.1_Nonsense_Mutation_p.L34*|RP11-1L12.3_ENST00000526061.1_RNA|BBOX1_ENST00000525090.1_Nonsense_Mutation_p.L34*			O75936	BODG_HUMAN	butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1	34					carnitine biosynthetic process (GO:0045329)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	gamma-butyrobetaine dioxygenase activity (GO:0008336)|iron ion binding (GO:0005506)|zinc ion binding (GO:0008270)			breast(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	23					Succinic acid(DB00139)|Vitamin C(DB00126)	GCTGTATGGTTGAGAGACAAC	0.473																																						ENST00000263182.3																			0				breast(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	23						c.(100-102)tTg>tAg		butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1	Succinic acid(DB00139)|Vitamin C(DB00126)						102.0	92.0	96.0					11																	27077078		2202	4299	6501	SO:0001587	stop_gained	8424				carnitine biosynthetic process	actin cytoskeleton|cytosol|intracellular membrane-bounded organelle	gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr11:27077078T>A	AF082868	CCDS7862.1	11p	2008-02-01			ENSG00000129151	ENSG00000129151	1.14.11.1		964	protein-coding gene	gene with protein product		603312		BBOX		9753662	Standard	XM_005253159		Approved	gamma-BBH, G-BBH, BBH	uc001mre.1	O75936	OTTHUMG00000166121	ENST00000529202.1:c.101T>A	11.37:g.27077078T>A	ENSP00000435781:p.Leu34*		Somatic				BBOX1_ENST00000527505.1_3'UTR|BBOX1_ENST00000525090.1_Nonsense_Mutation_p.L34*|BBOX1_ENST00000528583.1_Nonsense_Mutation_p.L34*|BBOX1_ENST00000529202.1_Nonsense_Mutation_p.L34*|RP11-1L12.3_ENST00000526061.1_RNA	p.L34*	NM_003986.2	NP_003977.1	WXS	Illumina GAIIx	Phase_I	O75936	BODG_HUMAN			3	469	+			34					B2R8L7|D3DQZ1|Q6IBJ2	Nonsense_Mutation	SNP	ENST00000529202.1	37	c.101T>A	CCDS7862.1	.	.	.	.	.	.	.	.	.	.	T	37	6.344172	0.97489	.	.	ENSG00000129151	ENST00000529202;ENST00000533566;ENST00000263182;ENST00000528583;ENST00000525090	.	.	.	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.3465	0.66668	0.0:0.0:0.0:1.0	.	.	.	.	X	34	.	ENSP00000263182:L34X	L	+	2	0	BBOX1	27033654	1.000000	0.71417	0.999000	0.59377	0.699000	0.40488	5.876000	0.69667	2.265000	0.75225	0.482000	0.46254	TTG		0.473	BBOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387946.1	NM_003986		15	50	15	50	---	---	---	---
DNAJC22	79962	broad.mit.edu	37	12	49743299	49743299	+	Missense_Mutation	SNP	T	T	C			TCGA-J4-8200-01A-11D-A29Q-08	TCGA-J4-8200-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0045d518-7b93-44b2-bb7b-dc11c85b3c93	e0bbf450-eb07-4a04-bfb5-5d1a5e885209	g.chr12:49743299T>C	ENST00000549441.2	+	3	1848	c.644T>C	c.(643-645)tTt>tCt	p.F215S	DNAJC22_ENST00000395069.3_Missense_Mutation_p.F215S			Q8N4W6	DJC22_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 22	215						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(1)|ovary(1)|pancreas(1)	10						GCAGAAACCTTTGGCTCCTTC	0.552																																						ENST00000549441.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(1)|ovary(1)|pancreas(1)	10						c.(643-645)tTt>tCt		DnaJ (Hsp40) homolog, subfamily C, member 22							168.0	163.0	165.0					12																	49743299		2203	4300	6503	SO:0001583	missense	79962				protein folding	integral to membrane	heat shock protein binding|unfolded protein binding	g.chr12:49743299T>C	AK055747	CCDS8785.1	12q13.12	2011-09-02		2008-07-08	ENSG00000178401	ENSG00000178401		"""Heat shock proteins / DNAJ (HSP40)"""	25802	protein-coding gene	gene with protein product	"""wurst homolog (Drosophila)"""					17558392	Standard	NM_024902		Approved	wus, FLJ13236	uc001rua.3	Q8N4W6		ENST00000549441.2:c.644T>C	12.37:g.49743299T>C	ENSP00000446830:p.Phe215Ser		Somatic				DNAJC22_ENST00000395069.3_Missense_Mutation_p.F215S	p.F215S			WXS	Illumina GAIIx	Phase_I	Q8N4W6	DJC22_HUMAN			3	1848	+			215					B3KP54	Missense_Mutation	SNP	ENST00000549441.2	37	c.644T>C	CCDS8785.1	.	.	.	.	.	.	.	.	.	.	T	15.58	2.877050	0.51801	.	.	ENSG00000178401	ENST00000549441;ENST00000395069	T;T	0.40756	1.02;1.02	4.8	4.8	0.61643	.	0.495326	0.22424	N	0.060241	T	0.26268	0.0641	N	0.08118	0	0.23528	N	0.997485	B	0.15473	0.013	B	0.16722	0.016	T	0.29336	-1.0015	10	0.87932	D	0	-1.284	13.6291	0.62186	0.0:0.0:0.0:1.0	.	215	Q8N4W6	DJC22_HUMAN	S	215	ENSP00000446830:F215S;ENSP00000378508:F215S	ENSP00000378508:F215S	F	+	2	0	DNAJC22	48029566	0.849000	0.29639	0.978000	0.43139	0.932000	0.56968	5.109000	0.64615	1.914000	0.55421	0.459000	0.35465	TTT		0.552	DNAJC22-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404302.2	NM_024902		5	184	5	184	---	---	---	---
SH2B3	10019	broad.mit.edu	37	12	111885274	111885274	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-8200-01A-11D-A29Q-08	TCGA-J4-8200-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0045d518-7b93-44b2-bb7b-dc11c85b3c93	e0bbf450-eb07-4a04-bfb5-5d1a5e885209	g.chr12:111885274G>A	ENST00000341259.2	+	6	1519	c.1162G>A	c.(1162-1164)Gtg>Atg	p.V388M	SH2B3_ENST00000538307.1_Missense_Mutation_p.V186M	NM_005475.2	NP_005466.1	Q9UQQ2	SH2B3_HUMAN	SH2B adaptor protein 3	388	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|embryonic hemopoiesis (GO:0035162)|intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)	phosphate ion binding (GO:0042301)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	10					Pazopanib(DB06589)	TGCTCATGGAGTGTTCCTGGT	0.612																																						ENST00000341259.2																			0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	10						c.(1162-1164)Gtg>Atg		SH2B adaptor protein 3							65.0	70.0	69.0					12																	111885274		2203	4300	6503	SO:0001583	missense	10019				blood coagulation	cytosol	signal transducer activity	g.chr12:111885274G>A	AF055581	CCDS9153.1	12q24.12	2014-09-17				ENSG00000111252		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	29605	protein-coding gene	gene with protein product	"""lymphocyte adaptor protein"""	605093				10799879	Standard	NM_005475		Approved	LNK, IDDM20	uc001tse.3	Q9UQQ2		ENST00000341259.2:c.1162G>A	12.37:g.111885274G>A	ENSP00000345492:p.Val388Met		Somatic				SH2B3_ENST00000538307.1_Missense_Mutation_p.V186M	p.V388M	NM_005475.2	NP_005466.1	WXS	Illumina GAIIx	Phase_I	Q9UQQ2	SH2B3_HUMAN			6	1519	+			388			SH2.		B9EGG5|O95184	Missense_Mutation	SNP	ENST00000341259.2	37	c.1162G>A	CCDS9153.1	.	.	.	.	.	.	.	.	.	.	G	19.29	3.798827	0.70567	.	.	ENSG00000111252	ENST00000341259;ENST00000551001;ENST00000538307	T;T	0.69685	-0.42;-0.42	5.0	5.0	0.66597	SH2 motif (5);	0.119548	0.56097	D	0.000027	T	0.80417	0.4619	M	0.66939	2.045	0.46478	D	0.999069	D;D;D	0.60575	0.988;0.978;0.976	P;P;D	0.67548	0.709;0.808;0.952	T	0.82067	-0.0641	10	0.62326	D	0.03	-4.3116	18.6561	0.91455	0.0:0.0:1.0:0.0	.	186;252;388	F5GYM4;Q59H48;Q9UQQ2	.;.;SH2B3_HUMAN	M	388;198;186	ENSP00000345492:V388M;ENSP00000440597:V186M	ENSP00000345492:V388M	V	+	1	0	SH2B3	110369657	1.000000	0.71417	0.954000	0.39281	0.945000	0.59286	3.673000	0.54591	2.482000	0.83794	0.462000	0.41574	GTG		0.612	SH2B3-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000404779.1	NM_005475		31	126	31	126	---	---	---	---
HECTD4	283450	broad.mit.edu	37	12	112632752	112632752	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-8200-01A-11D-A29Q-08	TCGA-J4-8200-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0045d518-7b93-44b2-bb7b-dc11c85b3c93	e0bbf450-eb07-4a04-bfb5-5d1a5e885209	g.chr12:112632752G>A	ENST00000430131.2	-	55	8565	c.7420C>T	c.(7420-7422)Cgg>Tgg	p.R2474W	HECTD4_ENST00000377560.5_Missense_Mutation_p.R2724W|HECTD4_ENST00000550722.1_Missense_Mutation_p.R2750W			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	2474					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										GTAATGTCCCGGATGGCAGGG	0.577																																						ENST00000550722.1																			0											c.(8248-8250)Cgg>Tgg		HECT domain containing E3 ubiquitin protein ligase 4							64.0	69.0	68.0					12																	112632752		2129	4247	6376	SO:0001583	missense	283450							g.chr12:112632752G>A	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.7420C>T	12.37:g.112632752G>A	ENSP00000404379:p.Arg2474Trp		Somatic				HECTD4_ENST00000377560.5_Missense_Mutation_p.R2724W|HECTD4_ENST00000430131.2_Missense_Mutation_p.R2474W	p.R2750W	NM_001109662.3	NP_001103132.3	WXS	Illumina GAIIx	Phase_I					56	8643	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	ENST00000430131.2	37	c.8248C>T		.	.	.	.	.	.	.	.	.	.	G	28.0	4.878668	0.91740	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	T;T;T	0.56103	0.48;0.49;0.48	5.58	3.69	0.42338	.	.	.	.	.	T	0.47284	0.1437	L	0.27053	0.805	0.50171	D	0.999855	D	0.61697	0.99	P	0.47744	0.556	T	0.51521	-0.8695	9	0.87932	D	0	.	14.7515	0.69530	0.0:0.0:0.7367:0.2633	.	2474	Q9Y4D8	K0614_HUMAN	W	2724;2474;2750	ENSP00000366783:R2724W;ENSP00000404379:R2474W;ENSP00000449784:R2750W	ENSP00000366783:R2724W	R	-	1	2	C12orf51	111117135	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	3.709000	0.54853	0.669000	0.31146	0.655000	0.94253	CGG		0.577	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		4	14	4	14	---	---	---	---
GPR132	29933	broad.mit.edu	37	14	105518068	105518068	+	Missense_Mutation	SNP	T	T	A			TCGA-J4-8200-01A-11D-A29Q-08	TCGA-J4-8200-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0045d518-7b93-44b2-bb7b-dc11c85b3c93	e0bbf450-eb07-4a04-bfb5-5d1a5e885209	g.chr14:105518068T>A	ENST00000329797.3	-	4	1317	c.406A>T	c.(406-408)Atc>Ttc	p.I136F	GPR132_ENST00000392585.2_Missense_Mutation_p.I127F|GPR132_ENST00000546679.1_5'UTR|GPR132_ENST00000539291.2_Missense_Mutation_p.I136F	NM_001278694.1|NM_001278696.1|NM_013345.2	NP_001265623.1|NP_001265625.1|NP_037477.1	Q9UNW8	GP132_HUMAN	G protein-coupled receptor 132	136					G1/S transition of mitotic cell cycle (GO:0000082)|response to stress (GO:0006950)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)		TCGCAGGAGATGCAGCACAGG	0.642																																						ENST00000329797.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18						c.(406-408)Atc>Ttc		G protein-coupled receptor 132							140.0	121.0	127.0					14																	105518068		2203	4300	6503	SO:0001583	missense	29933				response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr14:105518068T>A	AF083955	CCDS9997.1, CCDS61567.1	14q32.3	2012-08-21			ENSG00000183484	ENSG00000183484		"""GPCR / Class A : Orphans"""	17482	protein-coding gene	gene with protein product	"""G2 accumulation"""	606167				12086852	Standard	NM_013345		Approved	G2A	uc001yqd.3	Q9UNW8	OTTHUMG00000140173	ENST00000329797.3:c.406A>T	14.37:g.105518068T>A	ENSP00000328818:p.Ile136Phe		Somatic				GPR132_ENST00000392585.2_Missense_Mutation_p.I127F|GPR132_ENST00000546679.1_5'UTR|GPR132_ENST00000539291.2_Missense_Mutation_p.I136F	p.I136F	NM_001278694.1|NM_001278696.1|NM_013345.2	NP_001265623.1|NP_001265625.1|NP_037477.1	WXS	Illumina GAIIx	Phase_I	Q9UNW8	GP132_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)	4	1317	-		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	136					A8K7X7|B4E144|Q9BSU2	Missense_Mutation	SNP	ENST00000329797.3	37	c.406A>T	CCDS9997.1	.	.	.	.	.	.	.	.	.	.	T	22.3	4.269751	0.80469	.	.	ENSG00000183484	ENST00000329797;ENST00000392585;ENST00000539291	T;T;T	0.81247	-1.47;-1.47;-1.47	4.83	-0.343	0.12632	GPCR, rhodopsin-like superfamily (1);	0.069306	0.64402	D	0.000015	D	0.89305	0.6677	M	0.92555	3.32	0.53005	D	0.999961	D;D	0.76494	0.999;0.999	D;D	0.72982	0.979;0.979	D	0.86552	0.1835	10	0.62326	D	0.03	.	8.3448	0.32266	0.0:0.3654:0.0:0.6346	.	127;136	B4E144;Q9UNW8	.;GP132_HUMAN	F	136;127;136	ENSP00000328818:I136F;ENSP00000376364:I127F;ENSP00000438094:I136F	ENSP00000328818:I136F	I	-	1	0	GPR132	104589113	0.835000	0.29415	0.981000	0.43875	0.967000	0.64934	-0.103000	0.10940	-0.336000	0.08438	-0.521000	0.04368	ATC		0.642	GPR132-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409278.1	NM_013345		21	166	21	166	---	---	---	---
SLFN11	91607	broad.mit.edu	37	17	33679579	33679579	+	Missense_Mutation	SNP	C	C	A			TCGA-J4-8200-01A-11D-A29Q-08	TCGA-J4-8200-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0045d518-7b93-44b2-bb7b-dc11c85b3c93	e0bbf450-eb07-4a04-bfb5-5d1a5e885209	g.chr17:33679579C>A	ENST00000394566.1	-	7	2774	c.2502G>T	c.(2500-2502)agG>agT	p.R834S	SLFN11_ENST00000308377.4_Missense_Mutation_p.R834S	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	834					defense response to virus (GO:0051607)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|tRNA binding (GO:0000049)			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GCTGCACCACCCTTTTCTTCC	0.473																																						ENST00000394566.1																			0				autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50						c.(2500-2502)agG>agT		schlafen family member 11							235.0	202.0	213.0					17																	33679579		2203	4300	6503	SO:0001583	missense	91607					nucleus	ATP binding	g.chr17:33679579C>A	AK074184	CCDS11294.1	17q12	2006-04-05			ENSG00000172716	ENSG00000172716			26633	protein-coding gene	gene with protein product		614953				12477932	Standard	NM_001104587		Approved	FLJ34922	uc010ctr.3	Q7Z7L1	OTTHUMG00000132948	ENST00000394566.1:c.2502G>T	17.37:g.33679579C>A	ENSP00000378067:p.Arg834Ser		Somatic				SLFN11_ENST00000308377.4_Missense_Mutation_p.R834S	p.R834S	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	WXS	Illumina GAIIx	Phase_I	Q7Z7L1	SLN11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	7	2774	-		Ovarian(249;0.17)	834					E1P643|Q8N3S8|Q8N762|Q8TEE0	Missense_Mutation	SNP	ENST00000394566.1	37	c.2502G>T	CCDS11294.1	.	.	.	.	.	.	.	.	.	.	c	8.587	0.883740	0.17467	.	.	ENSG00000172716	ENST00000308377;ENST00000394566	T;T	0.01998	4.51;4.51	3.91	0.256	0.15567	.	0.485335	0.17203	N	0.183048	T	0.01976	0.0062	L	0.52905	1.665	0.09310	N	1	B	0.31227	0.314	B	0.29716	0.106	T	0.45702	-0.9243	10	0.11182	T	0.66	.	2.9258	0.05784	0.2069:0.5168:0.0:0.2763	.	834	Q7Z7L1	SLN11_HUMAN	S	834	ENSP00000312402:R834S;ENSP00000378067:R834S	ENSP00000312402:R834S	R	-	3	2	SLFN11	30703692	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.697000	0.01910	-0.030000	0.13804	-0.140000	0.14226	AGG		0.473	SLFN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256480.1	NM_152270		7	134	7	134	---	---	---	---
LIMD2	80774	broad.mit.edu	37	17	61776290	61776290	+	Silent	SNP	G	G	A			TCGA-J4-8200-01A-11D-A29Q-08	TCGA-J4-8200-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0045d518-7b93-44b2-bb7b-dc11c85b3c93	e0bbf450-eb07-4a04-bfb5-5d1a5e885209	g.chr17:61776290G>A	ENST00000259006.3	-	4	251	c.93C>T	c.(91-93)agC>agT	p.S31S	LIMD2_ENST00000578402.1_Silent_p.S31S|LIMD2_ENST00000578993.1_Intron|LIMD2_ENST00000583211.1_5'UTR|LIMD2_ENST00000578061.1_Silent_p.S31S|LIMD2_ENST00000582055.1_5'UTR	NM_030576.3	NP_085053.1	Q9BT23	LIMD2_HUMAN	LIM domain containing 2	31							zinc ion binding (GO:0008270)			kidney(1)|lung(2)	3						GGGCCCGCAGGCTGAAGGACT	0.662																																						ENST00000259006.3																			0				kidney(1)|lung(2)	3						c.(91-93)agC>agT		LIM domain containing 2							52.0	54.0	53.0					17																	61776290		2203	4300	6503	SO:0001819	synonymous_variant	80774						zinc ion binding	g.chr17:61776290G>A	AK092301	CCDS11641.1	17q23.3	2006-02-03				ENSG00000136490			28142	protein-coding gene	gene with protein product						12477932	Standard	NM_030576		Approved	MGC10986	uc002jbj.4	Q9BT23		ENST00000259006.3:c.93C>T	17.37:g.61776290G>A			Somatic				LIMD2_ENST00000583211.1_5'UTR|LIMD2_ENST00000582055.1_5'UTR|LIMD2_ENST00000578993.1_Intron|LIMD2_ENST00000578402.1_Silent_p.S31S|LIMD2_ENST00000578061.1_Silent_p.S31S	p.S31S	NM_030576.3	NP_085053.1	WXS	Illumina GAIIx	Phase_I	Q9BT23	LIMD2_HUMAN			4	251	-			31					D3DU16|Q96S91	Silent	SNP	ENST00000259006.3	37	c.93C>T	CCDS11641.1																																																																																				0.662	LIMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443877.1	NM_030576		5	93	5	93	---	---	---	---
ZNF428	126299	broad.mit.edu	37	19	44118391	44118391	+	Missense_Mutation	SNP	G	G	T			TCGA-J4-8200-01A-11D-A29Q-08	TCGA-J4-8200-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0045d518-7b93-44b2-bb7b-dc11c85b3c93	e0bbf450-eb07-4a04-bfb5-5d1a5e885209	g.chr19:44118391G>T	ENST00000300811.3	-	2	512	c.66C>A	c.(64-66)gaC>gaA	p.D22E	SRRM5_ENST00000607544.1_Missense_Mutation_p.R706S|SRRM5_ENST00000417606.1_Missense_Mutation_p.R706S|SRRM5_ENST00000526798.1_Missense_Mutation_p.R721S	NM_182498.3	NP_872304.2	Q96B54	ZN428_HUMAN	zinc finger protein 428	22	Glu-rich.						metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	5		Prostate(69;0.0153)				CTGGGGAAAGGTCTTCATCAT	0.597																																						ENST00000607544.1																			0				endometrium(11)|kidney(2)|skin(1)|stomach(1)	15						c.(2116-2118)agG>agT		serine/arginine repetitive matrix 5							112.0	81.0	91.0					19																	44118391		2203	4300	6503	SO:0001583	missense	100170229							g.chr19:44118391G>T	AY257197	CCDS12626.1	19q13.31	2008-05-02	2006-07-04	2006-07-04				"""Zinc fingers, C2H2-type"""	20804	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 37"""	C19orf37			Standard	NM_182498		Approved	MGC51082, Zfp428	uc002oxa.3	Q96B54		ENST00000300811.3:c.66C>A	19.37:g.44118391G>T	ENSP00000300811:p.Asp22Glu		Somatic				SRRM5_ENST00000417606.1_Missense_Mutation_p.R706S|ZNF428_ENST00000300811.3_Missense_Mutation_p.D22E|SRRM5_ENST00000526798.1_Missense_Mutation_p.R721S	p.R706S			WXS	Illumina GAIIx	Phase_I	B3KS81	SRRM5_HUMAN			3	2440	+			706			Ser-rich.		O95054|Q6X3Y3	Missense_Mutation	SNP	ENST00000300811.3	37	c.2118G>T	CCDS12626.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.25|17.25	3.342965|3.342965	0.61073|0.61073	.|.	.|.	ENSG00000131116|ENSG00000226763	ENST00000300811;ENST00000391964|ENST00000526798;ENST00000417606	.|.	.|.	.|.	5.14|5.14	2.92|2.92	0.33932|0.33932	.|.	0.121948|.	0.37393|.	N|.	0.002118|.	T|T	0.48822|0.48822	0.1521|0.1521	N|N	0.14661|0.14661	0.345|0.345	0.58432|0.58432	D|D	0.999999|0.999999	B|D	0.09022|0.71674	0.002|0.998	B|D	0.14578|0.68943	0.011|0.961	T|T	0.47573|0.47573	-0.9107|-0.9107	9|8	0.33940|0.48119	T|T	0.23|0.1	-23.0698|-23.0698	6.169|6.169	0.20406|0.20406	0.1019:0.2059:0.6922:0.0|0.1019:0.2059:0.6922:0.0	.|.	22|706	Q96B54|B3KS81	ZN428_HUMAN|SRRM5_HUMAN	E|S	22|721;706	.|.	ENSP00000300811:D22E|ENSP00000414512:R706S	D|R	-|+	3|3	2|2	ZNF428|SRRM5	48810231|48810231	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.548000|0.548000	0.35241|0.35241	0.521000|0.521000	0.22893|0.22893	1.403000|1.403000	0.46800|0.46800	0.561000|0.561000	0.74099|0.74099	GAC|AGG		0.597	ZNF428-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463349.1	NM_182498		10	55	10	55	---	---	---	---
IGHV1OR21-1	390530	broad.mit.edu	37	21	10862665	10862665	+	RNA	SNP	C	C	T	rs376398232	byFrequency	TCGA-J4-8200-01A-11D-A29Q-08	TCGA-J4-8200-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0045d518-7b93-44b2-bb7b-dc11c85b3c93	e0bbf450-eb07-4a04-bfb5-5d1a5e885209	g.chr21:10862665C>T	ENST00000559480.1	+	0	44							A6NJS3	IV1U1_HUMAN	immunoglobulin heavy variable 1/OR21-1 (non-functional)							extracellular region (GO:0005576)				breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1)	26						GTCATAGCTGCGGGTAGGATA	0.522													.|||	2	0.000399361	0.0008	0.0	5008	,	,		37622	0.0		0.001	False		,,,				2504	0.0					ENST00000559480.1																			0				breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1)	26										C		1,3909		0,1,1954	341.0	323.0	329.0			0.5	0.0	21		329	2,8306		0,2,4152	no	intergenic				0,3,6106	TT,TC,CC		0.0241,0.0256,0.0246			10862665	3,12215	1955	4154	6109			390530							g.chr21:10862665C>T			21p11.2	2014-05-06	2010-11-09		ENSG00000169861	ENSG00000277282		"""Immunoglobulins / IGH orphons"""	38040	other	immunoglobulin gene			"""immunoglobulin heavy variable 1/OR21-1 pseudogene"""				Standard	NG_011680		Approved	IGHV1/OR21-1		A6NJS3	OTTHUMG00000188295		21.37:g.10862665C>T			Somatic								WXS	Illumina GAIIx	Phase_I					0	44	+									RNA	SNP	ENST00000559480.1	37																																																																																						0.522	IGHV1OR21-1-201	KNOWN	basic|appris_principal	IG_V_gene	IG_V_gene		NG_011680		25	378	25	378	---	---	---	---
ST8SIA4	7903	broad.mit.edu	37	5	100222192	100222193	+	Frame_Shift_Ins	INS	-	-	G			TCGA-J4-8200-01A-11D-A29Q-08	TCGA-J4-8200-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0045d518-7b93-44b2-bb7b-dc11c85b3c93	e0bbf450-eb07-4a04-bfb5-5d1a5e885209	g.chr5:100222192_100222193insG	ENST00000231461.5	-	3	667_668	c.357_358insC	c.(355-360)aacattfs	p.I120fs	ST8SIA4_ENST00000507360.2_5'UTR|ST8SIA4_ENST00000451528.2_Frame_Shift_Ins_p.I120fs	NM_005668.4	NP_005659.1	Q92187	SIA8D_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4	120					axon guidance (GO:0007411)|cellular protein modification process (GO:0006464)|ganglioside biosynthetic process (GO:0001574)|N-glycan processing (GO:0006491)|nervous system development (GO:0007399)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	25		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)		COAD - Colon adenocarcinoma(37;0.00402)		TCATGAGAAATGTTTAGTGTCC	0.436																																						ENST00000231461.5																			0				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	25						c.(355-360)aacattfs		ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4																																				SO:0001589	frameshift_variant	7903				axon guidance|N-glycan processing	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr5:100222192_100222193insG	L41680	CCDS4091.1, CCDS47252.1	5q21	2013-03-01	2003-01-14	2005-02-07	ENSG00000113532	ENSG00000113532		"""Sialyltransferases"""	10871	protein-coding gene	gene with protein product	"""ST8Sia IV"""	602547	"""sialyltransferase 8 (alpha-2, 8-polysialytransferase) D"""	SIAT8D		7624364	Standard	NM_005668		Approved	PST, PST1	uc003knk.3	Q92187	OTTHUMG00000128727	ENST00000231461.5:c.358dupC	5.37:g.100222193_100222193dupG	ENSP00000231461:p.Ile120fs		Somatic				ST8SIA4_ENST00000507360.2_5'UTR|ST8SIA4_ENST00000451528.2_Frame_Shift_Ins_p.I120fs	p.I120fs	NM_005668.4	NP_005659.1	WXS	Illumina GAIIx	Phase_I	Q92187	SIA8D_HUMAN		COAD - Colon adenocarcinoma(37;0.00402)	3	667_668	-		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)	120					A8KA07|G3V104|Q8N1F4|Q92693	Frame_Shift_Ins	INS	ENST00000231461.5	37	c.357_358insC	CCDS4091.1																																																																																				0.436	ST8SIA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250632.3	NM_005668		29	130	29	130	---	---	---	---
USP28	57646	broad.mit.edu	37	11	113683078	113683079	+	In_Frame_Ins	INS	-	-	GAA	rs142728209		TCGA-J4-8200-01A-11D-A29Q-08	TCGA-J4-8200-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0045d518-7b93-44b2-bb7b-dc11c85b3c93	e0bbf450-eb07-4a04-bfb5-5d1a5e885209	g.chr11:113683078_113683079insGAA	ENST00000003302.4	-	16	1959_1960	c.1891_1892insTTC	c.(1891-1893)aga>aTTCga	p.630_631insI	USP28_ENST00000545540.1_In_Frame_Ins_p.505_506insI|USP28_ENST00000260188.5_In_Frame_Ins_p.630_631insI|USP28_ENST00000544967.1_In_Frame_Ins_p.338_339insI	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	630	USP.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|protein deubiquitination (GO:0016579)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		ATAGGAATCTCTTTCAACTTCT	0.416																																					Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)	ENST00000003302.4																			0				breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(1891-1893)aga>aTTCga		ubiquitin specific peptidase 28																																				SO:0001652	inframe_insertion	57646				cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr11:113683078_113683079insGAA	AB040948	CCDS31680.1, CCDS73394.1	11q23	2008-04-11	2005-08-08		ENSG00000048028	ENSG00000048028		"""Ubiquitin-specific peptidases"""	12625	protein-coding gene	gene with protein product		610748	"""ubiquitin specific protease 28"""			12838346, 11597335	Standard	XM_005271630		Approved	KIAA1515	uc001poh.3	Q96RU2	OTTHUMG00000168205	ENST00000003302.4:c.1891_1892insTTC	11.37:g.113683078_113683079insGAA	ENSP00000003302:p.Glu630_Arg631insIle		Somatic				USP28_ENST00000260188.5_In_Frame_Ins_p.630_631insI|USP28_ENST00000544967.1_In_Frame_Ins_p.338_339insI|USP28_ENST00000545540.1_In_Frame_Ins_p.505_506insI	p.630_631insI	NM_020886.2	NP_065937.1	WXS	Illumina GAIIx	Phase_I	Q96RU2	UBP28_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)	16	1959_1960	-		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	630					B0YJC0|B0YJC1|Q9P213	In_Frame_Ins	INS	ENST00000003302.4	37	c.1891_1892insTTC	CCDS31680.1																																																																																				0.416	USP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398789.1			7	100	7	100	---	---	---	---
