#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_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	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	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
NPIPB15	440348	broad.mit.edu	37	16	74425727	74425727	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A1QM-01A-11D-A14W-08	TCGA-DJ-A1QM-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d419c4-d242-4240-882b-cd6b7fd46b5e	b9eed02e-175a-4e22-91d2-78ad9b5ccd0c	g.chr16:74425727T>C	ENST00000429990.1	+	7	1177	c.1081T>C	c.(1081-1083)Tgg>Cgg	p.W361R				A6NHN6	NPB15_HUMAN	nuclear pore complex interacting protein family, member B15	361						extracellular region (GO:0005576)											acccaagaggtggagggtgGA	0.587																																						ENST00000429990.1																			0											c.(1081-1083)Tgg>Cgg		nuclear pore complex interacting protein family, member B15																																				SO:0001583	missense	440348							g.chr16:74425727T>C	BC160029		16q22.3	2013-06-11	2013-06-11	2013-06-11	ENSG00000196436	ENSG00000196436			34409	protein-coding gene	gene with protein product			"""nuclear pore complex interacting protein-like 2"""	NPIPL2			Standard	XM_005256273		Approved	LOC440348	uc010vmt.1	A6NHN6	OTTHUMG00000156916	ENST00000429990.1:c.1081T>C	16.37:g.74425727T>C	ENSP00000411140:p.Trp361Arg						p.W361R							7	1177	+								C9J9U8	Missense_Mutation	SNP	ENST00000429990.1	37	c.1081T>C		.	.	.	.	.	.	.	.	.	.	N	1.497	-0.552999	0.03996	.	.	ENSG00000196436	ENST00000504746;ENST00000429990	T	0.56103	0.48	.	.	.	.	.	.	.	.	T	0.15132	0.0365	N	0.01874	-0.695	0.09310	N	1	B	0.32324	0.364	B	0.22753	0.041	T	0.14309	-1.0477	8	0.20519	T	0.43	.	1.4222	0.02314	0.3296:0.0:0.3288:0.3415	.	300	A6NHN6	NPPL2_HUMAN	R	239;361	ENSP00000411140:W361R	ENSP00000411140:W361R	W	+	1	0	NPIPL2	72983228	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	-2.049000	0.01405	-2.307000	0.00653	-2.389000	0.00228	TGG		0.587	NPIPB15-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000346597.2	NM_001018059		4	57	0	0	0	0.001168	0	4	57				
SPATA32	124783	broad.mit.edu	37	17	43331805	43331805	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A1QM-01A-11D-A14W-08	TCGA-DJ-A1QM-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d419c4-d242-4240-882b-cd6b7fd46b5e	b9eed02e-175a-4e22-91d2-78ad9b5ccd0c	g.chr17:43331805G>C	ENST00000331780.4	-	5	1238	c.1143C>G	c.(1141-1143)atC>atG	p.I381M	MAP3K14-AS1_ENST00000588698.1_RNA|MAP3K14-AS1_ENST00000585346.1_RNA|MAP3K14-AS1_ENST00000591263.1_RNA|SPATA32_ENST00000543122.1_Missense_Mutation_p.I360M|MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14-AS1_ENST00000588160.1_RNA|MAP3K14-AS1_ENST00000588504.1_RNA|MAP3K14-AS1_ENST00000590100.1_RNA	NM_152343.2	NP_689556.2	Q96LK8	SPT32_HUMAN	spermatogenesis associated 32	381					spermatogenesis (GO:0007283)	perinuclear region of cytoplasm (GO:0048471)											ATTTCTCTGGGATTGTGGGGG	0.507																																						ENST00000543122.1																			0											c.(1078-1080)atC>atG		spermatogenesis associated 32							137.0	145.0	142.0					17																	43331805		2203	4300	6503	SO:0001583	missense	124783							g.chr17:43331805G>C	AK058143	CCDS32669.1	17q21.31	2013-10-11	2012-10-08	2012-10-08	ENSG00000184361	ENSG00000184361			26349	protein-coding gene	gene with protein product	"""acrosome expressed 2"""		"""chromosome 17 open reading frame 46"", ""testis expressed 34"""	C17orf46, TEX34		18621766	Standard	NM_152343		Approved	FLJ25414, AEP2, VAD1.2	uc002iis.1	Q96LK8	OTTHUMG00000180363	ENST00000331780.4:c.1143C>G	17.37:g.43331805G>C	ENSP00000331532:p.Ile381Met					MAP3K14-AS1_ENST00000585346.1_RNA|MAP3K14-AS1_ENST00000591263.1_RNA|MAP3K14-AS1_ENST00000588504.1_RNA|MAP3K14-AS1_ENST00000590100.1_RNA|SPATA32_ENST00000331780.4_Missense_Mutation_p.I381M|MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14-AS1_ENST00000588698.1_RNA	p.I360M							7	1861	-								Q7Z4U1|Q8N6V6	Missense_Mutation	SNP	ENST00000331780.4	37	c.1080C>G	CCDS32669.1	.	.	.	.	.	.	.	.	.	.	G	9.662	1.144319	0.21205	.	.	ENSG00000184361	ENST00000331780;ENST00000543122	T;T	0.44083	0.93;0.93	4.77	2.79	0.32731	.	0.924044	0.08992	N	0.864247	T	0.22742	0.0549	N	0.08118	0	0.19300	N	0.999978	P	0.36249	0.545	B	0.34931	0.192	T	0.13522	-1.0506	10	0.46703	T	0.11	-7.4376	6.8899	0.24224	0.2067:0.0:0.7933:0.0	.	381	Q96LK8	CQ046_HUMAN	M	381;360	ENSP00000331532:I381M;ENSP00000442724:I360M	ENSP00000331532:I381M	I	-	3	3	C17orf46	40687588	0.988000	0.35896	0.708000	0.30435	0.499000	0.33736	1.854000	0.39368	0.610000	0.30035	0.609000	0.83330	ATC		0.507	SPATA32-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450946.1	NM_152343		8	140	0	0	0	0.004482	0	8	140				
SLC25A12	8604	broad.mit.edu	37	2	172641902	172641902	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A1QM-01A-11D-A14W-08	TCGA-DJ-A1QM-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d419c4-d242-4240-882b-cd6b7fd46b5e	b9eed02e-175a-4e22-91d2-78ad9b5ccd0c	g.chr2:172641902C>T	ENST00000422440.2	-	18	1956	c.1919G>A	c.(1918-1920)aGa>aAa	p.R640K	SLC25A12_ENST00000392592.4_Missense_Mutation_p.R533K	NM_003705.4	NP_003696.2	O75746	CMC1_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 12	640					aspartate transport (GO:0015810)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|L-glutamate transport (GO:0015813)|malate-aspartate shuttle (GO:0043490)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)	TGTGGCGAGTCTGTATCCACC	0.488																																						ENST00000422440.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23						c.(1918-1920)aGa>aAa		solute carrier family 25 (aspartate/glutamate carrier), member 12	L-Aspartic Acid(DB00128)						180.0	166.0	171.0					2																	172641902		2203	4300	6503	SO:0001583	missense	8604				gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|protein binding	g.chr2:172641902C>T	Y14494	CCDS33327.1	2q24	2013-05-22	2012-03-29		ENSG00000115840	ENSG00000115840		"""Solute carriers"", ""EF-hand domain containing"""	10982	protein-coding gene	gene with protein product		603667	"""solute carrier family 25 (mitochondrial carrier, Aralar), member 12"""			9722566, 10702666, 11566871	Standard	NM_003705		Approved	Aralar	uc002uhh.3	O75746	OTTHUMG00000134290	ENST00000422440.2:c.1919G>A	2.37:g.172641902C>T	ENSP00000388658:p.Arg640Lys					SLC25A12_ENST00000392592.4_Missense_Mutation_p.R533K	p.R640K	NM_003705.4	NP_003696.2	O75746	CMC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.216)		18	1956	-			640					B3KR64|Q96AM8	Missense_Mutation	SNP	ENST00000422440.2	37	c.1919G>A	CCDS33327.1	.	.	.	.	.	.	.	.	.	.	C	12.04	1.819125	0.32145	.	.	ENSG00000115840	ENST00000422440;ENST00000392592	T;T	0.78126	-1.15;-1.12	6.02	5.15	0.70609	.	0.044849	0.85682	D	0.000000	T	0.68421	0.2999	L	0.33485	1.01	0.47621	D	0.999472	B;B	0.11235	0.004;0.004	B;B	0.15052	0.012;0.012	T	0.62397	-0.6863	10	0.21540	T	0.41	-17.1071	15.4976	0.75666	0.0:0.9337:0.0:0.0663	.	533;640	B3KR64;O75746	.;CMC1_HUMAN	K	640;533	ENSP00000388658:R640K;ENSP00000376371:R533K	ENSP00000376371:R533K	R	-	2	0	SLC25A12	172350148	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.298000	0.51818	1.548000	0.49413	0.650000	0.86243	AGA		0.488	SLC25A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259010.2	NM_003705		7	93	0	0	0	0.001984	0	7	93				
PCSK7	9159	broad.mit.edu	37	11	117090319	117090319	+	Silent	SNP	G	G	A			TCGA-DJ-A1QM-01A-11D-A14W-08	TCGA-DJ-A1QM-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d419c4-d242-4240-882b-cd6b7fd46b5e	b9eed02e-175a-4e22-91d2-78ad9b5ccd0c	g.chr11:117090319G>A	ENST00000320934.3	-	10	1941	c.1311C>T	c.(1309-1311)ttC>ttT	p.F437F	PCSK7_ENST00000540028.1_Silent_p.F78F	NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	437	Peptidase S8.				peptide hormone processing (GO:0016486)|protein processing (GO:0016485)	integral component of Golgi membrane (GO:0030173)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		GGGTGGCTGTGAAGACAATGA	0.592			T	IGH@	MLCLS																																	ENST00000320934.3				Dom	yes		11	11q23.3	9159	T	proprotein convertase subtilisin/kexin type 7			L	IGH@		MLCLS		0				NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16						c.(1309-1311)ttC>ttT		proprotein convertase subtilisin/kexin type 7							60.0	46.0	51.0					11																	117090319		2201	4296	6497	SO:0001819	synonymous_variant	9159				peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity	g.chr11:117090319G>A	U40623	CCDS8382.1	11q23-q24	2008-02-01			ENSG00000160613	ENSG00000160613			8748	protein-coding gene	gene with protein product		604872				8615762, 9820811	Standard	XM_006718938		Approved	PC7, PC8, LPC, SPC7	uc001pqr.3	Q16549	OTTHUMG00000165640	ENST00000320934.3:c.1311C>T	11.37:g.117090319G>A						PCSK7_ENST00000540028.1_Silent_p.F78F	p.F437F	NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)	10	1941	-	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	437			Catalytic.		B0YJ60|Q3C1X1|Q53GM4|Q96FK8|Q9UL57	Silent	SNP	ENST00000320934.3	37	c.1311C>T	CCDS8382.1																																																																																				0.592	PCSK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385529.2	NM_004716		3	28	0	0	0	0.004672	0	3	28				
TENM2	57451	broad.mit.edu	37	5	167182184	167182184	+	Intron	SNP	G	G	A			TCGA-DJ-A1QM-01A-11D-A14W-08	TCGA-DJ-A1QM-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d419c4-d242-4240-882b-cd6b7fd46b5e	b9eed02e-175a-4e22-91d2-78ad9b5ccd0c	g.chr5:167182184G>A	ENST00000518659.1	+	3	541				TENM2_ENST00000520394.1_Silent_p.V42V|TENM2_ENST00000520393.1_Intron|TENM2_ENST00000545108.1_Intron|TENM2_ENST00000519204.1_Silent_p.V42V	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2						axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										GGAAGGTTGTGATGGAGTCTC	0.483																																						ENST00000519204.1																			0											c.(124-126)gtG>gtA		teneurin transmembrane protein 2							304.0	287.0	293.0					5																	167182184		2029	4213	6242	SO:0001627	intron_variant	57451							g.chr5:167182184G>A	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.503-120807G>A	5.37:g.167182184G>A						TENM2_ENST00000520393.1_Intron|TENM2_ENST00000520394.1_Silent_p.V42V|TENM2_ENST00000545108.1_Intron|TENM2_ENST00000518659.1_Intron	p.V42V							1	244	+								Q9ULU2	Silent	SNP	ENST00000518659.1	37	c.126G>A																																																																																					0.483	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		5	258	0	0	0	0.001168	0	5	258				
ZFAT	57623	broad.mit.edu	37	8	135649756	135649756	+	Silent	SNP	C	C	T			TCGA-DJ-A1QM-01A-11D-A14W-08	TCGA-DJ-A1QM-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d419c4-d242-4240-882b-cd6b7fd46b5e	b9eed02e-175a-4e22-91d2-78ad9b5ccd0c	g.chr8:135649756C>T	ENST00000377838.3	-	3	570	c.396G>A	c.(394-396)cgG>cgA	p.R132R	ZFAT_ENST00000520727.1_Silent_p.R120R|ZFAT_ENST00000429442.2_Silent_p.R120R|ZFAT_ENST00000520214.1_Silent_p.R120R|ZFAT_ENST00000520356.1_Silent_p.R120R|ZFAT_ENST00000523399.1_Silent_p.R132R	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	132					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			AGATGTGCTTCCGCAGCTGGC	0.542																																						ENST00000520727.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(358-360)cgG>cgA		zinc finger and AT hook domain containing							90.0	96.0	94.0					8																	135649756		2120	4230	6350	SO:0001819	synonymous_variant	57623				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding	g.chr8:135649756C>T	BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"""Zinc fingers, C2H2-type"""	19899	protein-coding gene	gene with protein product		610931	"""zinc finger protein 406"""	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.396G>A	8.37:g.135649756C>T						ZFAT_ENST00000520214.1_Silent_p.R120R|ZFAT_ENST00000429442.2_Silent_p.R120R|ZFAT_ENST00000377838.3_Silent_p.R132R|ZFAT_ENST00000520356.1_Silent_p.R120R|ZFAT_ENST00000523399.1_Silent_p.R132R	p.R120R	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0432)		4	659	-	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		132					B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Silent	SNP	ENST00000377838.3	37	c.360G>A	CCDS47924.1																																																																																				0.542	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378272.1	NM_001029939		4	50	0	0	0	0.000248	0	4	50				
STAB1	23166	broad.mit.edu	37	3	52539151	52539151	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A1QM-01A-11D-A14W-08	TCGA-DJ-A1QM-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d419c4-d242-4240-882b-cd6b7fd46b5e	b9eed02e-175a-4e22-91d2-78ad9b5ccd0c	g.chr3:52539151G>A	ENST00000321725.6	+	13	1586	c.1510G>A	c.(1510-1512)Gat>Aat	p.D504N		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	504					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GACCCCTGGGGATCCCAAGGT	0.612																																						ENST00000321725.6																			0				breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76						c.(1510-1512)Gat>Aat		stabilin 1							59.0	67.0	64.0					3																	52539151		2203	4300	6503	SO:0001583	missense	23166				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr3:52539151G>A	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"""MS-1 antigen"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1"", ""common lymphatic endothelial and vascular endothelial receptor-1"""	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.1510G>A	3.37:g.52539151G>A	ENSP00000312946:p.Asp504Asn						p.D504N	NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)	13	1586	+			504					A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP	ENST00000321725.6	37	c.1510G>A	CCDS33768.1	.	.	.	.	.	.	.	.	.	.	G	8.985	0.976323	0.18736	.	.	ENSG00000010327	ENST00000321725	D	0.85013	-1.93	5.46	5.46	0.80206	FAS1 domain (1);	0.237542	0.36134	N	0.002775	T	0.70876	0.3274	N	0.17082	0.46	0.35803	D	0.823255	B;B	0.26902	0.163;0.009	B;B	0.19666	0.026;0.016	T	0.68965	-0.5270	10	0.02654	T	1	.	14.8512	0.70297	0.0:0.0:1.0:0.0	.	504;504	Q9NY15;Q9NY15-2	STAB1_HUMAN;.	N	504	ENSP00000312946:D504N	ENSP00000312946:D504N	D	+	1	0	STAB1	52514191	0.925000	0.31364	0.977000	0.42913	0.686000	0.39977	1.690000	0.37711	2.582000	0.87167	0.650000	0.86243	GAT		0.612	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136		7	82	0	0	0	0.001984	0	7	82				
IFITM1	8519	broad.mit.edu	37	11	314246	314246	+	Missense_Mutation	SNP	A	A	C			TCGA-DJ-A1QM-01A-11D-A14W-08	TCGA-DJ-A1QM-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d419c4-d242-4240-882b-cd6b7fd46b5e	b9eed02e-175a-4e22-91d2-78ad9b5ccd0c	g.chr11:314246A>C	ENST00000408968.3	+	1	394	c.76A>C	c.(76-78)Aac>Cac	p.N26H	IFITM1_ENST00000328221.5_Missense_Mutation_p.N26H|IFITM1_ENST00000528780.1_Missense_Mutation_p.N26H	NM_003641.3	NP_003632	P13164	IFM1_HUMAN	interferon induced transmembrane protein 1	26					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|intracellular signal transduction (GO:0035556)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral genome replication (GO:0045071)|ossification (GO:0001503)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of immune response (GO:0050776)|response to interferon-alpha (GO:0035455)|response to interferon-beta (GO:0035456)|response to interferon-gamma (GO:0034341)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor signaling protein activity (GO:0005057)			large_intestine(1)|lung(3)	4		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		CACCGTGATCAACATCCACAG	0.572																																						ENST00000408968.3																			0				large_intestine(1)|lung(3)	4						c.(76-78)Aac>Cac		interferon induced transmembrane protein 1							110.0	117.0	115.0					11																	314246		2041	4173	6214	SO:0001583	missense	8519				negative regulation of cell proliferation|regulation of immune response|response to virus|type I interferon-mediated signaling pathway	integral to membrane|plasma membrane	protein binding|receptor signaling protein activity	g.chr11:314246A>C	J04164	CCDS41584.1	11p15.5	2012-03-15	2012-03-13		ENSG00000185885	ENSG00000185885		"""CD molecules"""	5412	protein-coding gene	gene with protein product	"""interferon-induced transmembrane protein 1"""	604456	"""interferon induced transmembrane protein 1 (9-27)"""	IFI17		7559564	Standard	NM_003641		Approved	9-27, CD225	uc001loy.4	P13164		ENST00000408968.3:c.76A>C	11.37:g.314246A>C	ENSP00000386187:p.Asn26His					IFITM1_ENST00000328221.5_Missense_Mutation_p.N26H|IFITM1_ENST00000528780.1_Missense_Mutation_p.N26H	p.N26H	NM_003641.3	NP_003632.3	P13164	IFM1_HUMAN		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)	1	394	+		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	26					Q15322|Q53XZ0	Missense_Mutation	SNP	ENST00000408968.3	37	c.76A>C	CCDS41584.1	.	.	.	.	.	.	.	.	.	.	A	2.695	-0.272191	0.05716	.	.	ENSG00000185885	ENST00000528780;ENST00000328221;ENST00000408968;ENST00000452428	D;D;D	0.85773	-2.03;-2.03;-2.03	2.58	2.58	0.30949	.	1.277200	0.05871	N	0.624644	T	0.66046	0.2750	N	0.02202	-0.64	0.30762	N	0.743996	B	0.14438	0.01	B	0.23150	0.044	T	0.61667	-0.7016	10	0.13108	T	0.6	.	7.058	0.25109	1.0:0.0:0.0:0.0	.	26	P13164	IFM1_HUMAN	H	26;26;26;31	ENSP00000437057:N26H;ENSP00000330825:N26H;ENSP00000386187:N26H	ENSP00000330825:N26H	N	+	1	0	IFITM1	304246	0.995000	0.38212	0.877000	0.34402	0.067000	0.16453	2.260000	0.43267	1.446000	0.47643	0.172000	0.16884	AAC		0.572	IFITM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383595.1	NM_003641		3	100	0	0	0	0.004672	0	3	100				
CTPS2	56474	broad.mit.edu	37	X	16720909	16720909	+	Silent	SNP	G	G	A			TCGA-DJ-A1QM-01A-11D-A14W-08	TCGA-DJ-A1QM-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d419c4-d242-4240-882b-cd6b7fd46b5e	b9eed02e-175a-4e22-91d2-78ad9b5ccd0c	g.chrX:16720909G>A	ENST00000443824.1	-	2	860	c.117C>T	c.(115-117)atC>atT	p.I39I	CTPS2_ENST00000359276.4_Silent_p.I39I|CTPS2_ENST00000380241.3_Silent_p.I39I	NM_001144002.1	NP_001137474.1	Q9NRF8	PYRG2_HUMAN	CTP synthase 2	39					'de novo' CTP biosynthetic process (GO:0044210)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleotide metabolic process (GO:0006220)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|CTP synthase activity (GO:0003883)			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Hepatocellular(33;0.0997)					TATAGGGGTCGATTTTTATGG	0.458													G|||	1	0.000264901	0.0	0.0	3775	,	,		13391	0.0		0.0	False		,,,				2504	0.001					ENST00000443824.1																			0				breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(115-117)atC>atT		CTP synthase 2							224.0	190.0	201.0					X																	16720909		2203	4300	6503	SO:0001819	synonymous_variant	56474				glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine nucleotide biosynthetic process	cytosol	ATP binding|CTP synthase activity	g.chrX:16720909G>A	AF086422	CCDS14175.1	Xp22	2012-05-02	2012-05-02		ENSG00000047230	ENSG00000047230	6.3.4.2		2520	protein-coding gene	gene with protein product		300380	"""CTP synthase II"""			10899599	Standard	NM_001144002		Approved		uc004cxm.3	Q9NRF8	OTTHUMG00000021193	ENST00000443824.1:c.117C>T	X.37:g.16720909G>A						CTPS2_ENST00000359276.4_Silent_p.I39I|CTPS2_ENST00000380241.3_Silent_p.I39I	p.I39I	NM_001144002.1	NP_001137474.1	Q9NRF8	PYRG2_HUMAN			2	860	-	Hepatocellular(33;0.0997)		39					B3KWM2|Q9BRI0|Q9H809|Q9H8K9	Silent	SNP	ENST00000443824.1	37	c.117C>T	CCDS14175.1																																																																																				0.458	CTPS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055906.1	NM_019857		5	71	0	0	0	0.000602	0	5	71				
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-DJ-A1QM-01A-11D-A14W-08	TCGA-DJ-A1QM-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d419c4-d242-4240-882b-cd6b7fd46b5e	b9eed02e-175a-4e22-91d2-78ad9b5ccd0c	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418																																						ENST00000430580.2																			0											c.e6+1		neuroblastoma breakpoint family, member 1																																				SO:0001630	splice_region_variant	55672					cytoplasm		g.chr1:16918653C>T	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.34+1G>A	1.37:g.16918653C>T								NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	6	853	-								Q8N4E8|Q9C0H0	Splice_Site	SNP	ENST00000430580.2	37																																																																																						0.418	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940	Intron	3	51	0	0	0	0.004672	0	3	51				
CTPS2	56474	broad.mit.edu	37	X	16720901	16720901	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A1QM-01A-11D-A14W-08	TCGA-DJ-A1QM-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d419c4-d242-4240-882b-cd6b7fd46b5e	b9eed02e-175a-4e22-91d2-78ad9b5ccd0c	g.chrX:16720901T>C	ENST00000443824.1	-	2	868	c.125A>G	c.(124-126)tAt>tGt	p.Y42C	CTPS2_ENST00000359276.4_Missense_Mutation_p.Y42C|CTPS2_ENST00000380241.3_Missense_Mutation_p.Y42C	NM_001144002.1	NP_001137474.1	Q9NRF8	PYRG2_HUMAN	CTP synthase 2	42					'de novo' CTP biosynthetic process (GO:0044210)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleotide metabolic process (GO:0006220)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|CTP synthase activity (GO:0003883)			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Hepatocellular(33;0.0997)					GATGTTAATATAGGGGTCGAT	0.448																																						ENST00000443824.1																			0				breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(124-126)tAt>tGt		CTP synthase 2							228.0	193.0	205.0					X																	16720901		2203	4300	6503	SO:0001583	missense	56474				glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine nucleotide biosynthetic process	cytosol	ATP binding|CTP synthase activity	g.chrX:16720901T>C	AF086422	CCDS14175.1	Xp22	2012-05-02	2012-05-02		ENSG00000047230	ENSG00000047230	6.3.4.2		2520	protein-coding gene	gene with protein product		300380	"""CTP synthase II"""			10899599	Standard	NM_001144002		Approved		uc004cxm.3	Q9NRF8	OTTHUMG00000021193	ENST00000443824.1:c.125A>G	X.37:g.16720901T>C	ENSP00000401264:p.Tyr42Cys					CTPS2_ENST00000359276.4_Missense_Mutation_p.Y42C|CTPS2_ENST00000380241.3_Missense_Mutation_p.Y42C	p.Y42C	NM_001144002.1	NP_001137474.1	Q9NRF8	PYRG2_HUMAN			2	868	-	Hepatocellular(33;0.0997)		42					B3KWM2|Q9BRI0|Q9H809|Q9H8K9	Missense_Mutation	SNP	ENST00000443824.1	37	c.125A>G	CCDS14175.1	.	.	.	.	.	.	.	.	.	.	T	14.72	2.618590	0.46736	.	.	ENSG00000047230	ENST00000443824;ENST00000380241;ENST00000359276	T;T;T	0.65732	-0.17;-0.17;-0.17	5.33	5.33	0.75918	CTP synthase, N-terminal (1);	0.000000	0.56097	D	0.000040	D	0.87845	0.6280	H	0.99143	4.445	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.92725	0.6195	10	0.87932	D	0	-12.5928	14.4973	0.67698	0.0:0.0:0.0:1.0	.	42	Q9NRF8	PYRG2_HUMAN	C	42	ENSP00000401264:Y42C;ENSP00000369590:Y42C;ENSP00000352222:Y42C	ENSP00000352222:Y42C	Y	-	2	0	CTPS2	16630822	1.000000	0.71417	0.121000	0.21740	0.071000	0.16799	5.909000	0.69923	1.802000	0.52723	0.427000	0.28365	TAT		0.448	CTPS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055906.1	NM_019857		6	74	0	0	0	0.001168	0	6	74				
SORBS3	10174	broad.mit.edu	37	8	22428458	22428458	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A1QM-01A-11D-A14W-08	TCGA-DJ-A1QM-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d419c4-d242-4240-882b-cd6b7fd46b5e	b9eed02e-175a-4e22-91d2-78ad9b5ccd0c	g.chr8:22428458G>C	ENST00000240123.7	+	18	1850	c.1467G>C	c.(1465-1467)gaG>gaC	p.E489D	SORBS3_ENST00000428103.1_Missense_Mutation_p.E147D|SORBS3_ENST00000523740.1_3'UTR	NM_005775.4	NP_005766.3	O60504	VINEX_HUMAN	sorbin and SH3 domain containing 3	489	Binds to vinculin.|SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|muscle contraction (GO:0006936)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cytoskeleton organization (GO:0051495)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of stress fiber assembly (GO:0051496)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)	18		Prostate(55;0.0421)|Breast(100;0.102)		BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		AGGTGAACGAGAACTGGTACG	0.627																																						ENST00000240123.7																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)	18						c.(1465-1467)gaG>gaC		sorbin and SH3 domain containing 3							100.0	77.0	85.0					8																	22428458		2203	4300	6503	SO:0001583	missense	10174				muscle contraction|positive regulation of stress fiber assembly	cytoskeleton|cytosol|nucleus	protein binding|structural constituent of cytoskeleton|vinculin binding	g.chr8:22428458G>C		CCDS6031.1	8p21.3	2008-02-05			ENSG00000120896	ENSG00000120896			30907	protein-coding gene	gene with protein product		610795				9885244, 12510380	Standard	NM_001018003		Approved	SCAM-1, SH3D4, vinexin	uc003xbv.3	O60504	OTTHUMG00000131728	ENST00000240123.7:c.1467G>C	8.37:g.22428458G>C	ENSP00000240123:p.Glu489Asp					SORBS3_ENST00000428103.1_Missense_Mutation_p.E147D|SORBS3_ENST00000523740.1_3'UTR	p.E489D	NM_005775.4	NP_005766.3	O60504	VINEX_HUMAN		BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)	18	1850	+		Prostate(55;0.0421)|Breast(100;0.102)	489			Binds to vinculin.|SH3 2.		Q5BJE4|Q6NX54|Q96FY4|Q9UQE4	Missense_Mutation	SNP	ENST00000240123.7	37	c.1467G>C	CCDS6031.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	14.06|14.06|14.06	2.422841|2.422841|2.422841	0.43020|0.43020|0.43020	.|.|.	.|.|.	ENSG00000120896|ENSG00000120896|ENSG00000120896	ENST00000240123;ENST00000523900;ENST00000428103;ENST00000523965;ENST00000523348|ENST00000521554|ENST00000517962	T;T;T;T;T|T|.	0.26957|0.32515|.	1.7;1.7;1.7;1.7;1.7|1.45|.	5.39|5.39|5.39	3.22|3.22|3.22	0.36961|0.36961|0.36961	Src homology-3 domain (4);|.|.	0.147133|0.147133|.	0.30969|0.30969|.	N|N|.	0.008518|0.008518|.	T|T|T	0.20251|0.20251|0.20251	0.0487|0.0487|0.0487	N|N|N	0.11870|0.11870|0.11870	0.19|0.19|0.19	0.28337|0.28337|0.28337	N|N|N	0.92152|0.92152|0.92152	B|.|.	0.24651|.|.	0.108|.|.	B|.|.	0.28849|.|.	0.095|.|.	T|T|T	0.18147|0.18147|0.18147	-1.0346|-1.0346|-1.0346	10|8|5	0.52906|0.19147|.	T|T|.	0.07|0.46|.	-26.7168|-26.7168|-26.7168	7.1055|7.1055|7.1055	0.25360|0.25360|0.25360	0.2945:0.0:0.7055:0.0|0.2945:0.0:0.7055:0.0|0.2945:0.0:0.7055:0.0	.|.|.	489|.|.	O60504|.|.	VINEX_HUMAN|.|.	D|Q|T	489;147;147;147;100|161|1	ENSP00000240123:E489D;ENSP00000431128:E147D;ENSP00000408476:E147D;ENSP00000429764:E147D;ENSP00000428678:E100D|ENSP00000429058:E161Q|.	ENSP00000240123:E489D|ENSP00000429058:E161Q|.	E|E|R	+|+|+	3|1|2	2|0|0	SORBS3|SORBS3|SORBS3	22484403|22484403|22484403	0.988000|0.988000|0.988000	0.35896|0.35896|0.35896	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.989000|0.989000|0.989000	0.77384|0.77384|0.77384	0.095000|0.095000|0.095000	0.15127|0.15127|0.15127	1.234000|1.234000|1.234000	0.43709|0.43709|0.43709	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GAG|GAA|AGA		0.627	SORBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254647.3	NM_005775		8	55	0	0	0	0.003080	0	8	55				
OGDHL	55753	broad.mit.edu	37	10	50954867	50954867	+	Missense_Mutation	SNP	C	C	G			TCGA-DJ-A1QM-01A-11D-A14W-08	TCGA-DJ-A1QM-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d419c4-d242-4240-882b-cd6b7fd46b5e	b9eed02e-175a-4e22-91d2-78ad9b5ccd0c	g.chr10:50954867C>G	ENST00000374103.4	-	10	1310	c.1225G>C	c.(1225-1227)Gag>Cag	p.E409Q	OGDHL_ENST00000419399.1_Missense_Mutation_p.E352Q|OGDHL_ENST00000432695.1_Missense_Mutation_p.E200Q	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	409					glycolytic process (GO:0006096)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						TGGAAGGTCTCATATACCACG	0.637																																						ENST00000374103.4																			0				central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						c.(1225-1227)Gag>Cag		oxoglutarate dehydrogenase-like							142.0	98.0	113.0					10																	50954867		2203	4300	6503	SO:0001583	missense	55753				glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:50954867C>G	AK001713	CCDS7234.1, CCDS44390.1, CCDS44391.1	10q11.23	2013-09-20			ENSG00000197444	ENSG00000197444			25590	protein-coding gene	gene with protein product						10574462	Standard	NM_018245		Approved	FLJ10851	uc001jie.3	Q9ULD0	OTTHUMG00000018200	ENST00000374103.4:c.1225G>C	10.37:g.50954867C>G	ENSP00000363216:p.Glu409Gln					OGDHL_ENST00000432695.1_Missense_Mutation_p.E200Q|OGDHL_ENST00000419399.1_Missense_Mutation_p.E352Q	p.E409Q	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN			10	1310	-			409					A8K2G1|B4DKG2|B4E193|Q8TAN9|Q9NVA0	Missense_Mutation	SNP	ENST00000374103.4	37	c.1225G>C	CCDS7234.1	.	.	.	.	.	.	.	.	.	.	C	34	5.302066	0.95601	.	.	ENSG00000197444	ENST00000374103;ENST00000419399;ENST00000432695	T;T;D	0.97870	1.44;1.44;-4.58	5.76	5.76	0.90799	Dehydrogenase, E1 component (1);	0.000000	0.85682	D	0.000000	D	0.99444	0.9803	H	0.99582	4.64	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.98036	1.0379	10	0.87932	D	0	.	19.9576	0.97228	0.0:1.0:0.0:0.0	.	352;200;409	Q9ULD0-2;Q9ULD0-3;Q9ULD0	.;.;OGDHL_HUMAN	Q	409;352;200	ENSP00000363216:E409Q;ENSP00000401356:E352Q;ENSP00000390240:E200Q	ENSP00000363216:E409Q	E	-	1	0	OGDHL	50624873	1.000000	0.71417	0.999000	0.59377	0.855000	0.48748	7.776000	0.85560	2.736000	0.93811	0.655000	0.94253	GAG		0.637	OGDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048007.1	NM_018245		4	47	0	0	0	0.000248	0	4	47				
PDE12	201626	broad.mit.edu	37	3	57543396	57543396	+	Silent	SNP	G	G	A	rs140975906		TCGA-DJ-A1QM-01A-11D-A14W-08	TCGA-DJ-A1QM-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d419c4-d242-4240-882b-cd6b7fd46b5e	b9eed02e-175a-4e22-91d2-78ad9b5ccd0c	g.chr3:57543396G>A	ENST00000311180.8	+	1	1393	c.1290G>A	c.(1288-1290)caG>caA	p.Q430Q	PDE12_ENST00000487257.1_Silent_p.Q430Q	NM_177966.5	NP_808881.3	Q6L8Q7	PDE12_HUMAN	phosphodiesterase 12	430					mRNA processing (GO:0006397)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(4)|lung(3)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)		AGGTGCTCCAGAGATCTTCTG	0.498																																					Colon(125;308 1634 19198 50622 50717)	ENST00000311180.8																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(4)|lung(3)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20						c.(1288-1290)caG>caA		phosphodiesterase 12							54.0	56.0	56.0					3																	57543396		2203	4300	6503	SO:0001819	synonymous_variant	201626						hydrolase activity	g.chr3:57543396G>A	AK074423	CCDS33772.1	3p14.3	2013-10-11			ENSG00000174840	ENSG00000174840			25386	protein-coding gene	gene with protein product	"""2'-phosphodiesterase"""					15231837	Standard	NM_177966		Approved	DKFZp667B1218, 2'-PDE	uc003diw.4	Q6L8Q7	OTTHUMG00000158599	ENST00000311180.8:c.1290G>A	3.37:g.57543396G>A						PDE12_ENST00000487257.1_Silent_p.Q430Q	p.Q430Q	NM_177966.5	NP_808881.3	Q6L8Q7	PDE12_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)	1	1393	+			430					B4DTU8|Q8IYU3|Q8NDU2|Q8TE78	Silent	SNP	ENST00000311180.8	37	c.1290G>A	CCDS33772.1																																																																																				0.498	PDE12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351440.2	NM_177966		4	52	0	0	0	0.000602	0	4	52				
WDTC1	23038	broad.mit.edu	37	1	27620562	27620562	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A1QM-01A-11D-A14W-08	TCGA-DJ-A1QM-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d419c4-d242-4240-882b-cd6b7fd46b5e	b9eed02e-175a-4e22-91d2-78ad9b5ccd0c	g.chr1:27620562C>T	ENST00000319394.3	+	8	1247	c.712C>T	c.(712-714)Cgg>Tgg	p.R238W	WDTC1_ENST00000361771.3_Missense_Mutation_p.R238W	NM_001276252.1|NM_015023.3	NP_001263181.1|NP_055838.2	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	238					cellular chemical homeostasis (GO:0055082)|cellular response to insulin stimulus (GO:0032869)|glucose metabolic process (GO:0006006)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|regulation of cell size (GO:0008361)	cytosol (GO:0005829)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		CTTCTGTGACCGGCAGAAACC	0.547																																						ENST00000319394.3																			0				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21						c.(712-714)Cgg>Tgg		WD and tetratricopeptide repeats 1							84.0	78.0	80.0					1																	27620562		2203	4300	6503	SO:0001583	missense	23038						protein binding	g.chr1:27620562C>T	AK023778	CCDS296.1, CCDS60044.1	1p35.3	2013-01-11			ENSG00000142784	ENSG00000142784		"""DDB1 and CUL4 associated factors"", ""WD repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29175	protein-coding gene	gene with protein product	"""adipose homolog (Drosophila)"", ""DDB1 and CUL4 associated factor 9"""					12717455, 19238144	Standard	NM_015023		Approved	KIAA1037, ADP, DCAF9	uc009vst.3	Q8N5D0	OTTHUMG00000004273	ENST00000319394.3:c.712C>T	1.37:g.27620562C>T	ENSP00000317971:p.Arg238Trp					WDTC1_ENST00000361771.3_Missense_Mutation_p.R238W	p.R238W	NM_001276252.1|NM_015023.3	NP_001263181.1|NP_055838.2	Q8N5D0	WDTC1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)	8	1247	+		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)	238					D3DPL5|Q5SSC5|Q9NV87|Q9UPW4	Missense_Mutation	SNP	ENST00000319394.3	37	c.712C>T		.	.	.	.	.	.	.	.	.	.	C	17.94	3.512474	0.64522	.	.	ENSG00000142784	ENST00000319394;ENST00000361771	T;T	0.81415	-1.49;-1.49	5.16	4.23	0.50019	WD40 repeat-like-containing domain (1);	0.056459	0.64402	D	0.000002	T	0.73845	0.3639	L	0.46157	1.445	0.58432	D	0.999992	D;D	0.60575	0.979;0.988	B;B	0.40741	0.183;0.339	T	0.74349	-0.3694	10	0.37606	T	0.19	.	14.0717	0.64863	0.1516:0.8484:0.0:0.0	.	238;238	Q8N5D0;Q8N5D0-4	WDTC1_HUMAN;.	W	238	ENSP00000317971:R238W;ENSP00000355317:R238W	ENSP00000317971:R238W	R	+	1	2	WDTC1	27493149	0.985000	0.35326	1.000000	0.80357	0.992000	0.81027	1.439000	0.35013	1.363000	0.46019	0.655000	0.94253	CGG		0.547	WDTC1-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015023		5	62	0	0	0	0.001168	0	5	62				
ABCA3	21	broad.mit.edu	37	16	2373655	2373655	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A1QM-01A-11D-A14W-08	TCGA-DJ-A1QM-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d419c4-d242-4240-882b-cd6b7fd46b5e	b9eed02e-175a-4e22-91d2-78ad9b5ccd0c	g.chr16:2373655C>T	ENST00000301732.5	-	7	1182	c.482G>A	c.(481-483)aGa>aAa	p.R161K	ABCA3_ENST00000567910.1_Missense_Mutation_p.R161K|ABCA3_ENST00000382381.3_Missense_Mutation_p.R161K	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	161					response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	CATGTAATTTCTCCGTGTGTA	0.493																																						ENST00000301732.5																			0				breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70						c.(481-483)aGa>aAa		ATP-binding cassette, sub-family A (ABC1), member 3							248.0	278.0	268.0					16																	2373655		2198	4300	6498	SO:0001583	missense	21				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:2373655C>T	U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"""ATP binding cassette transporters / subfamily A"""	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.482G>A	16.37:g.2373655C>T	ENSP00000301732:p.Arg161Lys					ABCA3_ENST00000382381.3_Missense_Mutation_p.R161K|ABCA3_ENST00000567910.1_Missense_Mutation_p.R161K	p.R161K	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN			7	1182	-		Ovarian(90;0.17)	161					B2RU09|Q54A95|Q6P5P9|Q92473	Missense_Mutation	SNP	ENST00000301732.5	37	c.482G>A	CCDS10466.1	.	.	.	.	.	.	.	.	.	.	C	13.18	2.159023	0.38119	.	.	ENSG00000167972	ENST00000301732;ENST00000382381	D	0.97232	-4.3	5.43	4.41	0.53225	.	0.105632	0.64402	D	0.000006	D	0.96090	0.8726	M	0.63169	1.94	0.36681	D	0.879056	B;B;B;B	0.27316	0.071;0.045;0.005;0.175	B;B;B;B	0.37304	0.168;0.072;0.013;0.246	D	0.95548	0.8618	10	0.38643	T	0.18	.	13.1742	0.59617	0.0:0.9118:0.0:0.0882	.	161;223;161;161	A7MBM9;Q4LE27;Q6P5P9;Q99758	.;.;.;ABCA3_HUMAN	K	161;223	ENSP00000301732:R161K	ENSP00000301732:R161K	R	-	2	0	ABCA3	2313656	0.790000	0.28787	0.447000	0.26932	0.726000	0.41606	3.375000	0.52410	2.824000	0.97209	0.655000	0.94253	AGA		0.493	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250784.2	NM_001089		11	422	0	0	0	0.001368	0	11	422				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A1QM-01A-11D-A14W-08	TCGA-DJ-A1QM-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d419c4-d242-4240-882b-cd6b7fd46b5e	b9eed02e-175a-4e22-91d2-78ad9b5ccd0c	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112.0	104.0	107.0					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		10	76	0	0	0	0.008291	0	10	76				
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	G	T	rs201682072		TCGA-DJ-A1QM-01A-11D-A14W-08	TCGA-DJ-A1QM-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d419c4-d242-4240-882b-cd6b7fd46b5e	b9eed02e-175a-4e22-91d2-78ad9b5ccd0c	g.chr19:58385546G>T	ENST00000435989.2	-	3	1446	c.1212C>A	c.(1210-1212)gaC>gaA	p.D404E	ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000595295.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	404					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D404E(10)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AATGTTTTTTGTCAGTGTGAA	0.393																																						ENST00000435989.2																			10	Substitution - Missense(10)	p.D404E(10)	urinary_tract(3)|kidney(3)|prostate(2)|NS(1)|skin(1)	NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						c.(1210-1212)gaC>gaA		zinc finger protein 814							117.0	93.0	100.0					19																	58385546		692	1591	2283	SO:0001583	missense	730051				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58385546G>T		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.1212C>A	19.37:g.58385546G>T	ENSP00000410545:p.Asp404Glu					ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000600634.1_Intron	p.D404E	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN			3	1446	-			404					A6NF35	Missense_Mutation	SNP	ENST00000435989.2	37	c.1212C>A	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	11.12	1.545823	0.27652	.	.	ENSG00000204514	ENST00000435989;ENST00000376205	T	0.14640	2.49	2.33	-4.66	0.03329	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04363	0.0120	N	0.03177	-0.4	0.09310	N	1	B	0.13145	0.007	B	0.10450	0.005	T	0.33574	-0.9863	9	0.54805	T	0.06	.	1.2175	0.01917	0.3897:0.3041:0.1331:0.1731	.	404	B7Z6K7	ZN814_HUMAN	E	404;266	ENSP00000410545:D404E	ENSP00000365378:D266E	D	-	3	2	ZNF814	63077358	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-1.489000	0.02306	-2.531000	0.00491	-1.292000	0.01352	GAC		0.393	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		5	9	1	0	1.23904e-05	0.000602	1.9329e-05	5	9				
SGK223	157285	broad.mit.edu	37	8	8234868	8234869	+	In_Frame_Ins	INS	-	-	GCCGCT	rs59372311|rs150979349	byFrequency	TCGA-DJ-A1QM-01A-11D-A14W-08	TCGA-DJ-A1QM-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d419c4-d242-4240-882b-cd6b7fd46b5e	b9eed02e-175a-4e22-91d2-78ad9b5ccd0c	g.chr8:8234868_8234869insGCCGCT	ENST00000520004.1	-	3	1314_1315	c.1050_1051insAGCGGC	c.(1048-1053)ggcgcc>ggcAGCGGCgcc	p.349_350insGS	SGK223_ENST00000330777.4_In_Frame_Ins_p.349_350insGS			Q86YV5	SG223_HUMAN		349							ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)	p.G350_A351insSG(1)|p.G350_S351insSG(1)									GGGCTACTGGCGCCGCTGCCGC	0.653														2980	0.595048	0.7254	0.4942	5008	,	,		15838	0.629		0.3827	False		,,,				2504	0.6738				GBM(34;731 755 10259 33573 33867)	ENST00000520004.1																			2	Insertion - In frame(2)	p.G350_A351insSG(1)|p.G350_S351insSG(1)	breast(2)								c.(1048-1053)ggccag>ggAGCGGCccag																																						SO:0001652	inframe_insertion	0						ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr8:8234868_8234869insGCCGCT																												ENST00000520004.1:c.1045_1050dupAGCGGC	8.37:g.8234869_8234874dupGCCGCT	ENSP00000428054:p.Gly348_Ser349dup					SGK223_ENST00000330777.4_In_Frame_Ins_p.350_351GQ>GAAQ	p.350_351GQ>GAAQ			Q86YV5	SG223_HUMAN			3	1314_1315	-			350					Q8N3N5	In_Frame_Ins	INS	ENST00000520004.1	37	c.1050_1051insAGCGGC	CCDS43706.1																																																																																				0.653	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374864.1			11	16						11	16	---	---	---	---
SMG1P3	100271836	broad.mit.edu	37	16	21469994	21469994	+	RNA	DEL	A	A	-			TCGA-DJ-A1QM-01A-11D-A14W-08	TCGA-DJ-A1QM-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d419c4-d242-4240-882b-cd6b7fd46b5e	b9eed02e-175a-4e22-91d2-78ad9b5ccd0c	g.chr16:21469994delA	ENST00000520823.2	-	0	749				snoU13_ENST00000459321.1_RNA																							ACTGTACATTAAAAAAAAAAA	0.294																																						ENST00000520823.2																			0																																																			0							g.chr16:21469994delA																													16.37:g.21469994delA														0	749	-									RNA	DEL	ENST00000520823.2	37																																																																																						0.294	CTD-2547E10.2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000378302.2			3	3						3	3	---	---	---	---
