#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
RGPD3	653489	broad.mit.edu	37	2	107049631	107049631	+	Silent	SNP	C	C	T			TCGA-FE-A233-01A-11D-A14W-08	TCGA-FE-A233-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8485acc-97ec-4ea6-9a86-debbc1bec114	c978bbee-66b4-4c0c-aa14-7667a1765dbb	g.chr2:107049631C>T	ENST00000409886.3	-	16	2403	c.2316G>A	c.(2314-2316)gcG>gcA	p.A772A	RGPD3_ENST00000304514.7_Silent_p.A772A	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	772					protein targeting to Golgi (GO:0000042)			p.A772A(4)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TTTCTGAATCCGCATTTCGCA	0.373																																						ENST00000409886.3																			4	Substitution - coding silent(4)	p.A772A(4)	kidney(2)|endometrium(2)	breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						c.(2314-2316)gcG>gcA		RANBP2-like and GRIP domain containing 3							81.0	68.0	72.0					2																	107049631		692	1590	2282	SO:0001819	synonymous_variant	653489				intracellular transport		binding	g.chr2:107049631C>T		CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"""Tetratricopeptide (TTC) repeat domain containing"""	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.2316G>A	2.37:g.107049631C>T						RGPD3_ENST00000304514.7_Silent_p.A772A	p.A772A	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN			16	2403	-			772					B8ZZM4	Silent	SNP	ENST00000409886.3	37	c.2316G>A	CCDS46379.1																																																																																				0.373	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329975.1	XM_929931		7	214	0	0	0	1	0	7	214				
SLC26A6	65010	broad.mit.edu	37	3	48667529	48667529	+	Missense_Mutation	SNP	A	A	G			TCGA-FE-A233-01A-11D-A14W-08	TCGA-FE-A233-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8485acc-97ec-4ea6-9a86-debbc1bec114	c978bbee-66b4-4c0c-aa14-7667a1765dbb	g.chr3:48667529A>G	ENST00000395550.2	-	12	1435	c.1388T>C	c.(1387-1389)aTg>aCg	p.M463T	SLC26A6_ENST00000482282.1_5'Flank|SLC26A6_ENST00000383733.3_Missense_Mutation_p.M463T|SLC26A6_ENST00000358747.6_Missense_Mutation_p.M442T|SLC26A6_ENST00000337000.8_Missense_Mutation_p.M356T|SLC26A6_ENST00000420764.2_Missense_Mutation_p.M463T|SLC26A6_ENST00000455886.2_Missense_Mutation_p.M427T			Q9BXS9	S26A6_HUMAN	solute carrier family 26 (anion exchanger), member 6	463					angiotensin-activated signaling pathway (GO:0038166)|anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|cellular response to cAMP (GO:0071320)|cellular response to fructose stimulus (GO:0071332)|cellular response to interferon-gamma (GO:0071346)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|epithelial fluid transport (GO:0042045)|formate transport (GO:0015724)|intestinal absorption (GO:0050892)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|mannitol transport (GO:0015797)|oxalate transport (GO:0019532)|oxalic acid secretion (GO:0046724)|positive regulation of dipeptide transmembrane transport (GO:2001150)|protein kinase C signaling (GO:0070528)|regulation of intracellular pH (GO:0051453)|sperm capacitation (GO:0048240)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transepithelial chloride transport (GO:0030321)|transepithelial transport (GO:0070633)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|chloride channel complex (GO:0034707)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane-bounded vesicle (GO:0031988)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)|vesicle membrane (GO:0012506)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride channel activity (GO:0005254)|chloride transmembrane transporter activity (GO:0015108)|efflux transmembrane transporter activity (GO:0015562)|formate efflux transmembrane transporter activity (GO:0015660)|formate transmembrane transporter activity (GO:0015499)|formate uptake transmembrane transporter activity (GO:0015659)|oxalate transmembrane transporter activity (GO:0019531)|PDZ domain binding (GO:0030165)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)		SLC26A6/PRKAR2A(2)	NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)		GAGGGAGCGCATGTCGCTGAG	0.667																																					NSCLC(13;369 479 28271 30152 44026)	ENST00000358747.6																		SLC26A6/PRKAR2A(2)	0				NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(1)	19						c.(1324-1326)aTg>aCg		solute carrier family 26 (anion exchanger), member 6							66.0	73.0	70.0					3																	48667529		2111	4234	6345	SO:0001583	missense	65010							g.chr3:48667529A>G	AF279265	CCDS43087.1, CCDS46824.1, CCDS46825.1, CCDS46826.1, CCDS63627.1, CCDS63628.1	3p21.31	2013-08-05	2013-07-18		ENSG00000225697	ENSG00000225697		"""Solute carriers"""	14472	protein-coding gene	gene with protein product	"""pendrin-like protein 1"", ""pendrin L1"", ""sulfate anion transporter"", ""anion transporter 1"""	610068	"""solute carrier family 26, member 6"""			11087667, 11247665	Standard	NM_022911		Approved	DKFZp586E1422		Q9BXS9	OTTHUMG00000186381	ENST00000395550.2:c.1388T>C	3.37:g.48667529A>G	ENSP00000378920:p.Met463Thr					SLC26A6_ENST00000337000.8_Missense_Mutation_p.M356T|SLC26A6_ENST00000395550.2_Missense_Mutation_p.M463T|SLC26A6_ENST00000420764.2_Missense_Mutation_p.M463T|SLC26A6_ENST00000383733.3_Missense_Mutation_p.M463T|SLC26A6_ENST00000455886.2_Missense_Mutation_p.M427T	p.M442T	NM_001040454.1	NP_001035544.1				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)	11	1575	-								B4DMZ1|Q548A7|Q96Q90|Q9NQU1	Missense_Mutation	SNP	ENST00000395550.2	37	c.1325T>C	CCDS43087.1	.	.	.	.	.	.	.	.	.	.	A	14.57	2.575198	0.45902	.	.	ENSG00000225697	ENST00000420764;ENST00000395550;ENST00000383733;ENST00000337000;ENST00000447978;ENST00000358747;ENST00000455886;ENST00000421649	D;D;D;D;D;D;D	0.92647	-3.08;-3.08;-3.08;-3.08;-3.08;-3.08;-3.08	5.32	5.32	0.75619	Sulphate transporter (1);	.	.	.	.	D	0.84183	0.5416	N	0.05351	-0.065	0.09310	N	0.999999	B;B;B;B;B;B;B	0.26400	0.148;0.001;0.047;0.0;0.001;0.001;0.005	B;B;B;B;B;B;B	0.16289	0.015;0.014;0.006;0.002;0.003;0.003;0.01	T	0.77064	-0.2726	9	0.72032	D	0.01	.	15.4371	0.75155	1.0:0.0:0.0:0.0	.	427;476;356;463;463;463;3868	B4DMZ1;Q86YZ4;G3XAC1;Q9BXS9-2;Q548A7;Q9BXS9;Q5Y190	.;.;.;.;.;S26A6_HUMAN;.	T	463;463;463;356;476;442;427;271	ENSP00000404684:M463T;ENSP00000378920:M463T;ENSP00000373239:M463T;ENSP00000337648:M356T;ENSP00000351597:M442T;ENSP00000401066:M427T;ENSP00000389922:M271T	ENSP00000337648:M356T	M	-	2	0	SLC26A6	48642533	0.940000	0.31905	0.013000	0.15412	0.006000	0.05464	8.510000	0.90532	2.224000	0.72417	0.533000	0.62120	ATG		0.667	SLC26A6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345040.1	NM_022911		5	82	0	0	0	1	0	5	82				
MAP3K15	389840	broad.mit.edu	37	X	19506981	19506981	+	Missense_Mutation	SNP	G	G	T			TCGA-FE-A233-01A-11D-A14W-08	TCGA-FE-A233-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8485acc-97ec-4ea6-9a86-debbc1bec114	c978bbee-66b4-4c0c-aa14-7667a1765dbb	g.chrX:19506981G>T	ENST00000338883.4	-	2	465	c.466C>A	c.(466-468)Cat>Aat	p.H156N	MAP3K15_ENST00000469203.2_5'Flank	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	156							ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					TCGGTGTCATGGTACAAGATC	0.458																																						ENST00000338883.4																			0				NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(466-468)Cat>Aat		mitogen-activated protein kinase kinase kinase 15							167.0	135.0	145.0					X																	19506981		1568	3582	5150	SO:0001583	missense	389840						ATP binding|MAP kinase kinase kinase activity|metal ion binding	g.chrX:19506981G>T	AK131412		Xp22.12	2011-06-09			ENSG00000180815	ENSG00000180815		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	31689	protein-coding gene	gene with protein product		300820					Standard	NM_001001671		Approved	bA723P2.3, FLJ16518	uc022btq.1	Q6ZN16	OTTHUMG00000022724	ENST00000338883.4:c.466C>A	X.37:g.19506981G>T	ENSP00000345629:p.His156Asn						p.H156N	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN			2	465	-	Hepatocellular(33;0.183)		156					A2AI49|A2AI50|A6NJ61|Q5JPR4|Q6ZMV3	Missense_Mutation	SNP	ENST00000338883.4	37	c.466C>A		.	.	.	.	.	.	.	.	.	.	G	1.129	-0.652875	0.03480	.	.	ENSG00000180815	ENST00000338883	T	0.08193	3.12	5.34	3.16	0.36331	.	0.103596	0.64402	D	0.000004	T	0.03608	0.0103	N	0.05441	-0.05	0.43919	D	0.996564	.	.	.	.	.	.	T	0.37731	-0.9693	8	0.02654	T	1	.	9.2806	0.37727	0.2115:0.0:0.7885:0.0	.	.	.	.	N	156	ENSP00000345629:H156N	ENSP00000345629:H156N	H	-	1	0	MAP3K15	19416902	1.000000	0.71417	0.579000	0.28588	0.338000	0.28826	3.025000	0.49681	0.267000	0.21916	0.600000	0.82982	CAT		0.458	MAP3K15-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001001671		44	106	1	0	5.34276e-22	1	6.08826e-22	44	106				
LRRC37A4P	55073	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs202189074		TCGA-FE-A233-01A-11D-A14W-08	TCGA-FE-A233-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8485acc-97ec-4ea6-9a86-debbc1bec114	c978bbee-66b4-4c0c-aa14-7667a1765dbb	g.chr17:43587569G>C	ENST00000579913.1	-	0	1444				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		aactccgtctgaaaagaaaag	0.443																																						ENST00000253803.2																			0																																																			0							g.chr17:43587569G>C	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587569G>C						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.443	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		4	47	0	0	0	1	0	4	47				
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766	byFrequency	TCGA-FE-A233-01A-11D-A14W-08	TCGA-FE-A233-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8485acc-97ec-4ea6-9a86-debbc1bec114	c978bbee-66b4-4c0c-aa14-7667a1765dbb	g.chr12:132547087G>A	ENST00000333577.4	+	48	8392	c.8283G>A	c.(8281-8283)caG>caA	p.Q2761Q	EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000389562.2_Silent_p.Q2724Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2761	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2724Q(16)|p.Q2725Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacaacagc	0.562													G|||	37	0.00738818	0.0038	0.0072	5008	,	,		15585	0.002		0.0149	False		,,,				2504	0.0102					ENST00000333577.4																			17	Substitution - coding silent(17)	p.Q2724Q(16)|p.Q2725Q(1)	prostate(4)|kidney(4)|central_nervous_system(3)|lung(3)|endometrium(2)|urinary_tract(1)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8281-8283)caG>caA		E1A binding protein p400							28.0	31.0	30.0					12																	132547087		2199	4282	6481	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547087G>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8283G>A	12.37:g.132547087G>A						EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000389561.2_Silent_p.Q2725Q	p.Q2761Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8392	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2761			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8283G>A																																																																																					0.562	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		6	67	0	0	0	1	0	6	67				
TRAV8-6	28680	broad.mit.edu	37	14	22446888	22446888	+	RNA	SNP	C	C	T	rs2075483	byFrequency	TCGA-FE-A233-01A-11D-A14W-08	TCGA-FE-A233-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8485acc-97ec-4ea6-9a86-debbc1bec114	c978bbee-66b4-4c0c-aa14-7667a1765dbb	g.chr14:22446888C>T	ENST00000390443.3	+	0	190									T cell receptor alpha variable 8-6																		CCGCCCAGCTCAAGGTCCTGC	0.532											OREG0022573	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	c|||	1279	0.255391	0.0688	0.3545	5008	,	,		20913	0.3889		0.2525	False		,,,				2504	0.3027					ENST00000390443.3																			0															C		414,3638		16,382,1628	96.0	98.0	97.0			1.5	0.0	14	dbSNP_96	97	2102,6298		264,1574,2362	no	intergenic				280,1956,3990	TT,TC,CC		25.0238,10.2172,20.2056			22446888	2516,9936	2026	4200	6226			0							g.chr14:22446888C>T	X02850		14q11.2	2012-02-07			ENSG00000211795	ENSG00000211795		"""T cell receptors / TRA locus"""	12151	other	T cell receptor gene						8206523, 2993909	Standard	NG_001332		Approved				OTTHUMG00000170641		14.37:g.22446888C>T			OREG0022573	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	756									0	190	+									RNA	SNP	ENST00000390443.3	37																																																																																						0.532	TRAV8-6-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000409889.1	NG_001332		6	128	0	0	0	1	0	6	128				
RAD51AP1	10635	broad.mit.edu	37	12	4657258	4657258	+	Splice_Site	SNP	G	G	A			TCGA-FE-A233-01A-11D-A14W-08	TCGA-FE-A233-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8485acc-97ec-4ea6-9a86-debbc1bec114	c978bbee-66b4-4c0c-aa14-7667a1765dbb	g.chr12:4657258G>A	ENST00000544927.1	+	5	330	c.320G>A	c.(319-321)aGc>aAc	p.S107N	RAD51AP1_ENST00000352618.4_Splice_Site_p.S107N|RAD51AP1_ENST00000228843.9_Splice_Site_p.S124N|RAD51AP1_ENST00000321524.7_Splice_Site_p.S124N|RAD51AP1_ENST00000543041.1_5'UTR					RAD51 associated protein 1											breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00306)|COAD - Colon adenocarcinoma(12;0.0389)			TTATATTTAGGCATTGAAAAA	0.254																																						ENST00000228843.9																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	13						c.e6-1		RAD51 associated protein 1							61.0	69.0	66.0					12																	4657258		2195	4288	6483	SO:0001630	splice_region_variant	10635				double-strand break repair via homologous recombination		double-stranded DNA binding|protein binding|RNA binding|single-stranded DNA binding	g.chr12:4657258G>A	AF006259	CCDS8529.1, CCDS44805.1	12p13.2-p13.1	2004-09-16			ENSG00000111247	ENSG00000111247			16956	protein-coding gene	gene with protein product		603070				9396801	Standard	NM_001130862		Approved	PIR51	uc001qmw.3	Q96B01	OTTHUMG00000168125	ENST00000544927.1:c.320-1G>A	12.37:g.4657258G>A						RAD51AP1_ENST00000544927.1_Splice_Site_p.S107_splice|RAD51AP1_ENST00000352618.4_Splice_Site_p.S107_splice|RAD51AP1_ENST00000321524.7_Splice_Site_p.S124_splice|RAD51AP1_ENST00000543041.1_5'UTR	p.S124_splice	NM_001130862.1	NP_001124334.1	Q96B01	R51A1_HUMAN	Colorectal(7;0.00306)|COAD - Colon adenocarcinoma(12;0.0389)		6	421	+			124						Splice_Site	SNP	ENST00000544927.1	37	c.370_splice		.	.	.	.	.	.	.	.	.	.	G	13.28	2.189731	0.38707	.	.	ENSG00000111247	ENST00000321524;ENST00000228843;ENST00000352618;ENST00000544927	T;T;T;T	0.33438	1.41;1.41;1.41;1.41	4.86	0.667	0.17907	.	0.883383	0.10324	N	0.688437	T	0.26376	0.0644	L	0.48362	1.52	0.58432	D	0.999999	B;B;P	0.41848	0.004;0.004;0.763	B;B;B	0.41813	0.003;0.002;0.367	T	0.11421	-1.0588	9	.	.	.	.	6.3266	0.21246	0.442:0.0:0.558:0.0	.	124;124;107	Q96B01;A8K313;Q96B01-2	R51A1_HUMAN;.;.	N	124;124;107;107	ENSP00000323750:S124N;ENSP00000228843:S124N;ENSP00000309479:S107N;ENSP00000446296:S107N	.	S	+	2	0	RAD51AP1	4527519	0.555000	0.26530	0.494000	0.27515	0.264000	0.26372	0.173000	0.16724	0.254000	0.21573	0.591000	0.81541	AGC		0.254	RAD51AP1-012	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000399208.1	NM_006479	Missense_Mutation	6	118	0	0	0	1	0	6	118				
LINC00969	440993	broad.mit.edu	37	3	195395402	195395402	+	lincRNA	SNP	C	C	A	rs199554501	byFrequency	TCGA-FE-A233-01A-11D-A14W-08	TCGA-FE-A233-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8485acc-97ec-4ea6-9a86-debbc1bec114	c978bbee-66b4-4c0c-aa14-7667a1765dbb	g.chr3:195395402C>A	ENST00000445430.1	+	0	809									long intergenic non-protein coding RNA 969																		TACGGGCGCACCTACTTGAGC	0.597																																						ENST00000445430.1																			0																																																			0							g.chr3:195395402C>A	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195395402C>A														0	809	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.597	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			4	52	1	0	0.0293803	1	0.0306306	4	52				
CDH8	1006	broad.mit.edu	37	16	61687975	61687975	+	Missense_Mutation	SNP	C	C	T			TCGA-FE-A233-01A-11D-A14W-08	TCGA-FE-A233-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8485acc-97ec-4ea6-9a86-debbc1bec114	c978bbee-66b4-4c0c-aa14-7667a1765dbb	g.chr16:61687975C>T	ENST00000577390.1	-	12	2891	c.1937G>A	c.(1936-1938)cGg>cAg	p.R646Q	CDH8_ENST00000577730.1_Missense_Mutation_p.R646Q|CDH8_ENST00000299345.6_Missense_Mutation_p.R646Q	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	646					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)	p.R646Q(1)|p.R646L(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		ATTTTTATGCCGCCGTAGAGT	0.393																																						ENST00000577390.1																			2	Substitution - Missense(2)	p.R646Q(1)|p.R646L(1)	ovary(1)|lung(1)	biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112						c.(1936-1938)cGg>cAg		cadherin 8, type 2							64.0	63.0	63.0					16																	61687975		2203	4300	6503	SO:0001583	missense	1006				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:61687975C>T	L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"""Cadherins / Major cadherins"""	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.1937G>A	16.37:g.61687975C>T	ENSP00000462701:p.Arg646Gln					CDH8_ENST00000299345.6_Missense_Mutation_p.R646Q|CDH8_ENST00000577730.1_Missense_Mutation_p.R646Q	p.R646Q	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)	12	2891	-		Ovarian(137;0.0799)|Melanoma(118;0.16)	646					B3KWC1|Q14DC6|Q9ULB2	Missense_Mutation	SNP	ENST00000577390.1	37	c.1937G>A	CCDS10802.1	.	.	.	.	.	.	.	.	.	.	C	36	5.622957	0.96660	.	.	ENSG00000150394	ENST00000299345	T	0.78816	-1.21	5.7	5.7	0.88788	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	D	0.88239	0.6383	M	0.79258	2.445	0.80722	D	1	D	0.76494	0.999	D	0.74674	0.984	D	0.87239	0.2265	10	0.42905	T	0.14	.	18.8311	0.92139	0.0:1.0:0.0:0.0	.	646	P55286	CADH8_HUMAN	Q	646	ENSP00000299345:R646Q	ENSP00000299345:R646Q	R	-	2	0	CDH8	60245476	1.000000	0.71417	0.963000	0.40424	0.943000	0.58893	6.046000	0.71029	2.679000	0.91253	0.655000	0.94253	CGG		0.393	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796		5	98	0	0	0	1	0	5	98				
BMS1P20	96610	broad.mit.edu	37	22	22664606	22664606	+	RNA	SNP	A	A	G	rs187344612		TCGA-FE-A233-01A-11D-A14W-08	TCGA-FE-A233-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8485acc-97ec-4ea6-9a86-debbc1bec114	c978bbee-66b4-4c0c-aa14-7667a1765dbb	g.chr22:22664606A>G	ENST00000426066.1	+	0	787					NR_027293.1				BMS1 pseudogene 20																		GTCTTCATGCAAACTTGGTAT	0.398																																						ENST00000426066.1																			0																																																			0							g.chr22:22664606A>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664606A>G								NR_027293.1						0	787	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.398	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			3	30	0	0	0	1	0	3	30				
TMEM26	219623	broad.mit.edu	37	10	63170274	63170274	+	Missense_Mutation	SNP	C	C	T			TCGA-FE-A233-01A-11D-A14W-08	TCGA-FE-A233-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8485acc-97ec-4ea6-9a86-debbc1bec114	c978bbee-66b4-4c0c-aa14-7667a1765dbb	g.chr10:63170274C>T	ENST00000399298.3	-	6	1281	c.913G>A	c.(913-915)Gtg>Atg	p.V305M	TMEM26_ENST00000507507.1_5'UTR	NM_178505.6	NP_848600.2	Q6ZUK4	TMM26_HUMAN	transmembrane protein 26	305						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18	Prostate(12;0.0112)					GCCAGCACCACCAAGCGGTAG	0.532																																						ENST00000399298.3																			0				kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(913-915)Gtg>Atg		transmembrane protein 26							107.0	111.0	110.0					10																	63170274		2099	4228	6327	SO:0001583	missense	219623					integral to membrane		g.chr10:63170274C>T	BC042872	CCDS41530.1	10q21.3	2008-10-20			ENSG00000196932	ENSG00000196932			28550	protein-coding gene	gene with protein product						12477932	Standard	NM_178505		Approved	MGC35010, Em:AC068892.1	uc001jlo.2	Q6ZUK4	OTTHUMG00000018293	ENST00000399298.3:c.913G>A	10.37:g.63170274C>T	ENSP00000382237:p.Val305Met					TMEM26_ENST00000507507.1_5'UTR	p.V305M	NM_178505.6	NP_848600.2	Q6ZUK4	TMM26_HUMAN			6	1281	-	Prostate(12;0.0112)		305					Q6ZVM0|Q8IVN9	Missense_Mutation	SNP	ENST00000399298.3	37	c.913G>A	CCDS41530.1	.	.	.	.	.	.	.	.	.	.	C	10.93	1.490649	0.26686	.	.	ENSG00000196932	ENST00000399298	.	.	.	5.75	2.46	0.29980	.	0.904447	0.09609	N	0.779206	T	0.21186	0.0510	N	0.17082	0.46	0.09310	N	0.999998	B	0.30406	0.278	B	0.21360	0.034	T	0.14615	-1.0466	9	0.46703	T	0.11	-0.2329	8.4784	0.33027	0.0:0.6912:0.1303:0.1785	.	305	Q6ZUK4	TMM26_HUMAN	M	305	.	ENSP00000382237:V305M	V	-	1	0	TMEM26	62840280	0.000000	0.05858	0.979000	0.43373	0.609000	0.37215	0.106000	0.15354	0.757000	0.33036	0.655000	0.94253	GTG		0.532	TMEM26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359121.1	NM_178505		8	49	0	0	0	1	0	8	49				
PKHD1	5314	broad.mit.edu	37	6	51523917	51523917	+	Silent	SNP	C	C	T	rs142855690		TCGA-FE-A233-01A-11D-A14W-08	TCGA-FE-A233-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8485acc-97ec-4ea6-9a86-debbc1bec114	c978bbee-66b4-4c0c-aa14-7667a1765dbb	g.chr6:51523917C>T	ENST00000371117.3	-	61	11282	c.11007G>A	c.(11005-11007)tcG>tcA	p.S3669S		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3669					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TTACTGTTGGCGAATCACCAA	0.423													c|||	1	0.000199681	0.0	0.0	5008	,	,		20393	0.0		0.001	False		,,,				2504	0.0					ENST00000371117.3																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(11005-11007)tcG>tcA		polycystic kidney and hepatic disease 1 (autosomal recessive)		G		0,4406		0,0,2203	173.0	159.0	164.0		11007	-3.1	0.0	6	dbSNP_134	164	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	PKHD1	NM_138694.3		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		3669/4075	51523917	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51523917C>T	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.11007G>A	6.37:g.51523917C>T							p.S3669S	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN			61	11282	-	Lung NSC(77;0.0605)		3669					Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP	ENST00000371117.3	37	c.11007G>A	CCDS4935.1																																																																																				0.423	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		11	184	0	0	0	1	0	11	184				
ZFHX3	463	broad.mit.edu	37	16	72830437	72830437	+	Silent	SNP	T	T	G			TCGA-FE-A233-01A-11D-A14W-08	TCGA-FE-A233-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8485acc-97ec-4ea6-9a86-debbc1bec114	c978bbee-66b4-4c0c-aa14-7667a1765dbb	g.chr16:72830437T>G	ENST00000268489.5	-	9	6816	c.6144A>C	c.(6142-6144)ccA>ccC	p.P2048P	ZFHX3_ENST00000397992.5_Silent_p.P1134P	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2048	Poly-Pro.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GAAGTGGGGGTGGAGGGGGTG	0.642																																						ENST00000268489.5																			0				NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(6142-6144)ccA>ccC		zinc finger homeobox 3							19.0	28.0	25.0					16																	72830437		2129	4145	6274	SO:0001819	synonymous_variant	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72830437T>G	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.6144A>C	16.37:g.72830437T>G						ZFHX3_ENST00000397992.5_Silent_p.P1134P	p.P2048P	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			9	6816	-		Ovarian(137;0.13)	2048			Poly-Pro.		D3DWS8|O15101|Q13719	Silent	SNP	ENST00000268489.5	37	c.6144A>C	CCDS10908.1																																																																																				0.642	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		7	29	0	0	0	1	0	7	29				
LSAMP	4045	broad.mit.edu	37	3	115571362	115571362	+	Missense_Mutation	SNP	G	G	A			TCGA-FE-A233-01A-11D-A14W-08	TCGA-FE-A233-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8485acc-97ec-4ea6-9a86-debbc1bec114	c978bbee-66b4-4c0c-aa14-7667a1765dbb	g.chr3:115571362G>A	ENST00000490035.2	-	4	1116	c.617C>T	c.(616-618)gCg>gTg	p.A206V	LSAMP_ENST00000498645.1_5'UTR|LSAMP_ENST00000539563.1_Missense_Mutation_p.A203V	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein	206	Ig-like C2-type 2.				cell adhesion (GO:0007155)|locomotory exploration behavior (GO:0035641)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)		TTTGACATCCGCCGAGGAGAC	0.527																																						ENST00000490035.1																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(616-618)gCg>gTg		limbic system-associated membrane protein							146.0	124.0	132.0					3																	115571362		2203	4300	6503	SO:0001583	missense	4045				cell adhesion|nervous system development	anchored to membrane|plasma membrane		g.chr3:115571362G>A	U41901	CCDS2982.1	3q13.2-q21	2013-01-11			ENSG00000185565	ENSG00000185565		"""Immunoglobulin superfamily / I-set domain containing"""	6705	protein-coding gene	gene with protein product	"""IgLON family member 3"""	603241				9615236	Standard	NM_002338		Approved	LAMP, IGLON3	uc003ebs.3	Q13449	OTTHUMG00000159308	ENST00000490035.2:c.617C>T	3.37:g.115571362G>A	ENSP00000419000:p.Ala206Val					LSAMP_ENST00000539563.1_Missense_Mutation_p.A203V|LSAMP_ENST00000498645.1_5'UTR	p.A206V	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)	4	1116	-		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)	206			Ig-like C2-type 2.		Q8IV49	Missense_Mutation	SNP	ENST00000490035.2	37	c.617C>T	CCDS2982.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.010766	0.93346	.	.	ENSG00000185565	ENST00000333617;ENST00000490035;ENST00000539563	T;T;T	0.67698	-0.28;-0.28;-0.28	6.17	6.17	0.99709	Immunoglobulin I-set (1);Immunoglobulin-like (1);	0.047588	0.85682	D	0.000000	T	0.75324	0.3834	L	0.43701	1.375	0.58432	D	0.999998	D;D	0.67145	0.996;0.989	P;P	0.58331	0.792;0.837	T	0.73288	-0.4030	10	0.51188	T	0.08	-9.0498	20.8794	0.99867	0.0:0.0:1.0:0.0	.	206;206	B2RCU8;Q13449	.;LSAMP_HUMAN	V	190;206;203	ENSP00000328455:A190V;ENSP00000419000:A206V;ENSP00000443429:A203V	ENSP00000328455:A190V	A	-	2	0	LSAMP	117054052	1.000000	0.71417	0.976000	0.42696	0.943000	0.58893	8.882000	0.92420	2.941000	0.99782	0.655000	0.94253	GCG		0.527	LSAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354495.4	NM_002338		29	37	0	0	0	1	0	29	37				
SLC6A10P	386757	broad.mit.edu	37	16	32893876	32893876	+	RNA	SNP	T	T	C	rs375167306	byFrequency	TCGA-FE-A233-01A-11D-A14W-08	TCGA-FE-A233-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8485acc-97ec-4ea6-9a86-debbc1bec114	c978bbee-66b4-4c0c-aa14-7667a1765dbb	g.chr16:32893876T>C	ENST00000330048.5	-	0	1381					NR_003083.2				solute carrier family 6 (neurotransmitter transporter), member 10, pseudogene																		GACAGGGGACTGGCGGTCAGC	0.612													.|||	1546	0.308706	0.4402	0.1988	5008	,	,		27697	0.2063		0.2624	False		,,,				2504	0.362					ENST00000330048.5																			0																																																			0							g.chr16:32893876T>C	U41163		16p11.2	2013-07-19	2013-07-19	2013-07-19	ENSG00000214617	ENSG00000214617		"""Solute carriers"""	11043	pseudogene	pseudogene	"""creatine transporter-2"""		"""solute carrier family 6 (neurotransmitter transporter, creatine), member 10"""	SLC6A10		9154116	Standard	NR_003083		Approved	CT-2	uc002edh.1		OTTHUMG00000132481		16.37:g.32893876T>C								NR_003083.2						0	1381	-									RNA	SNP	ENST00000330048.5	37																																																																																						0.612	SLC6A10P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000432081.2			4	62	0	0	0	1	0	4	62				
LRRC37A3	374819	broad.mit.edu	37	17	62856224	62856224	+	Missense_Mutation	SNP	G	G	A	rs373038175		TCGA-FE-A233-01A-11D-A14W-08	TCGA-FE-A233-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8485acc-97ec-4ea6-9a86-debbc1bec114	c978bbee-66b4-4c0c-aa14-7667a1765dbb	g.chr17:62856224G>A	ENST00000584306.1	-	11	4570	c.4040C>T	c.(4039-4041)gCg>gTg	p.A1347V	LRRC37A3_ENST00000400877.3_Missense_Mutation_p.A385V|LRRC37A3_ENST00000319651.5_Missense_Mutation_p.A1347V|LRRC37A3_ENST00000339474.5_Missense_Mutation_p.A465V|LRRC37A3_ENST00000334962.5_Missense_Mutation_p.A324V	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	1347						integral component of membrane (GO:0016021)				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						GAGGCTCTTCGCTGCAGAGAA	0.443																																						ENST00000584306.1																			0				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(4039-4041)gCg>gTg		leucine rich repeat containing 37, member A3		G	VAL/ALA	1,4399		0,1,2199	96.0	103.0	101.0		4040	-0.6	0.0	17		101	1,8593		0,1,4296	no	missense	LRRC37A3	NM_199340.2	64	0,2,6495	AA,AG,GG		0.0116,0.0227,0.0154	benign	1347/1635	62856224	2,12992	2200	4297	6497	SO:0001583	missense	374819					integral to membrane		g.chr17:62856224G>A	AB011135	CCDS32708.1	17q24.1	2008-10-22			ENSG00000176809	ENSG00000176809			32427	protein-coding gene	gene with protein product							Standard	NM_199340		Approved	FLJ34306, KIAA0563	uc031rbi.1	O60309	OTTHUMG00000132307	ENST00000584306.1:c.4040C>T	17.37:g.62856224G>A	ENSP00000464535:p.Ala1347Val					LRRC37A3_ENST00000319651.5_Missense_Mutation_p.A1347V|LRRC37A3_ENST00000334962.5_Missense_Mutation_p.A324V|LRRC37A3_ENST00000339474.5_Missense_Mutation_p.A465V|LRRC37A3_ENST00000400877.3_Missense_Mutation_p.A385V	p.A1347V	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN			11	4570	-			1347					Q49A01|Q49A80|Q8NB33	Missense_Mutation	SNP	ENST00000584306.1	37	c.4040C>T	CCDS32708.1	.	.	.	.	.	.	.	.	.	.	.	0.011	-1.735720	0.00681	2.27E-4	1.16E-4	ENSG00000176809	ENST00000339474;ENST00000400877;ENST00000334962;ENST00000319651	T;T;T	0.55588	1.69;1.68;0.51	1.94	-0.615	0.11587	.	.	.	.	.	T	0.21881	0.0527	N	0.05441	-0.05	0.09310	N	1	B;B	0.18310	0.003;0.027	B;B	0.08055	0.001;0.003	T	0.25398	-1.0133	9	0.02654	T	1	.	4.4811	0.11767	0.6163:0.0:0.3837:0.0	.	465;1347	B4DG20;O60309	.;L37A3_HUMAN	V	428;385;324;1347	ENSP00000383674:A385V;ENSP00000335617:A324V;ENSP00000325713:A1347V	ENSP00000325713:A1347V	A	-	2	0	LRRC37A3	60286686	0.000000	0.05858	0.005000	0.12908	0.083000	0.17756	0.124000	0.15728	-0.182000	0.10602	0.184000	0.17185	GCG		0.443	LRRC37A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445377.1	NM_199340		7	182	0	0	0	1	0	7	182				
ANKRD20A8P	729171	broad.mit.edu	37	2	95522772	95522772	+	RNA	SNP	T	T	C	rs368571207		TCGA-FE-A233-01A-11D-A14W-08	TCGA-FE-A233-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8485acc-97ec-4ea6-9a86-debbc1bec114	c978bbee-66b4-4c0c-aa14-7667a1765dbb	g.chr2:95522772T>C	ENST00000432432.2	-	0	255					NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene									p.E49G(1)									GCGCTCCACCTCCGCGGCGTC	0.682																																						ENST00000432432.2																			1	Substitution - Missense(1)	p.E49G(1)	kidney(1)																																																0							g.chr2:95522772T>C			2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95522772T>C								NR_040113.1						0	255	-								A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																						0.682	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			3	37	0	0	0	1	0	3	37				
MCMBP	79892	broad.mit.edu	37	10	121618395	121618395	+	Splice_Site	SNP	C	C	A			TCGA-FE-A233-01A-11D-A14W-08	TCGA-FE-A233-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8485acc-97ec-4ea6-9a86-debbc1bec114	c978bbee-66b4-4c0c-aa14-7667a1765dbb	g.chr10:121618395C>A	ENST00000360003.3	-	4	497		c.e4+1		MCMBP_ENST00000466047.1_Splice_Site|MCMBP_ENST00000369077.3_Splice_Site	NM_001256378.1|NM_001256379.1|NM_024834.3	NP_001243307.1|NP_001243308.1|NP_079110.1	Q9BTE3	MCMBP_HUMAN	minichromosome maintenance complex binding protein						DNA-dependent DNA replication (GO:0006261)|mitotic nuclear division (GO:0007067)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(2)|skin(2)	21						AAGATACATACCCCACACTCT	0.269																																						ENST00000360003.3																			0				breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(2)|skin(2)	21						c.e4+1		minichromosome maintenance complex binding protein							39.0	40.0	40.0					10																	121618395		2201	4294	6495	SO:0001630	splice_region_variant	79892				cell division|DNA-dependent DNA replication|mitosis|S phase of mitotic cell cycle|sister chromatid cohesion	nucleus	chromatin binding	g.chr10:121618395C>A	BC007219	CCDS7617.1, CCDS58099.1	10q26.13	2013-10-11	2011-01-05	2011-01-05	ENSG00000197771	ENSG00000197771			25782	protein-coding gene	gene with protein product		610909	"""chromosome 10 open reading frame 119"""	C10orf119		17296731	Standard	NM_024834		Approved	FLJ13081, MCM-BP	uc001ler.3	Q9BTE3	OTTHUMG00000019159	ENST00000360003.3:c.327+1G>T	10.37:g.121618395C>A						MCMBP_ENST00000369077.3_Splice_Site|MCMBP_ENST00000466047.1_Splice_Site		NM_001256378.1|NM_001256379.1|NM_024834.3	NP_001243307.1|NP_001243308.1|NP_079110.1	Q9BTE3	MCMBP_HUMAN			4	497	-								B3KSP7|Q6IA56|Q9BVT9|Q9H916	Splice_Site	SNP	ENST00000360003.3	37		CCDS7617.1	.	.	.	.	.	.	.	.	.	.	C	19.92	3.916588	0.73098	.	.	ENSG00000197771	ENST00000360003;ENST00000369077	.	.	.	4.94	4.94	0.65067	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.7632	0.88470	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MCMBP	121608385	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.382000	0.66213	2.281000	0.76405	0.467000	0.42956	.		0.269	MCMBP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000050684.1	NM_024834	Intron	7	99	1	0	0.27861	1	0.27861	7	99				
OR10Z1	128368	broad.mit.edu	37	1	158576999	158576999	+	Missense_Mutation	SNP	C	C	A			TCGA-FE-A233-01A-11D-A14W-08	TCGA-FE-A233-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8485acc-97ec-4ea6-9a86-debbc1bec114	c978bbee-66b4-4c0c-aa14-7667a1765dbb	g.chr1:158576999C>A	ENST00000361284.1	+	1	771	c.771C>A	c.(769-771)ttC>ttA	p.F257L		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	257						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					GTGCTTCCTTCGTGTACCTGA	0.493																																						ENST00000361284.1																			0				endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37						c.(769-771)ttC>ttA		olfactory receptor, family 10, subfamily Z, member 1							199.0	203.0	202.0					1																	158576999		2203	4300	6503	SO:0001583	missense	128368				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158576999C>A	AB065635	CCDS30901.1	1q23.1	2012-08-23			ENSG00000198967	ENSG00000198967		"""GPCR / Class A : Olfactory receptors"""	14996	protein-coding gene	gene with protein product							Standard	NM_001004478		Approved		uc010pio.2	Q8NGY1	OTTHUMG00000019637	ENST00000361284.1:c.771C>A	1.37:g.158576999C>A	ENSP00000354707:p.Phe257Leu						p.F257L	NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN			1	771	+	all_hematologic(112;0.0378)		257					Q5VYL0|Q6IFR7	Missense_Mutation	SNP	ENST00000361284.1	37	c.771C>A	CCDS30901.1	.	.	.	.	.	.	.	.	.	.	C	17.08	3.297615	0.60086	.	.	ENSG00000198967	ENST00000361284	T	0.00241	8.46	5.05	4.14	0.48551	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39909	N	0.001232	T	0.00178	0.0005	L	0.41632	1.29	0.30201	N	0.798619	D	0.89917	1.0	D	0.80764	0.994	T	0.55903	-0.8067	10	0.48119	T	0.1	.	12.2596	0.54642	0.0:0.9169:0.0:0.0831	.	257	Q8NGY1	O10Z1_HUMAN	L	257	ENSP00000354707:F257L	ENSP00000354707:F257L	F	+	3	2	OR10Z1	156843623	0.838000	0.29461	1.000000	0.80357	0.848000	0.48234	0.212000	0.17497	1.352000	0.45808	0.650000	0.86243	TTC		0.493	OR10Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051853.1	NM_001004478		14	267	1	0	4.36969e-10	1	4.86625e-10	14	267				
AHNAK2	113146	broad.mit.edu	37	14	105416113	105416113	+	Missense_Mutation	SNP	G	G	A	rs201071549	byFrequency	TCGA-FE-A233-01A-11D-A14W-08	TCGA-FE-A233-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8485acc-97ec-4ea6-9a86-debbc1bec114	c978bbee-66b4-4c0c-aa14-7667a1765dbb	g.chr14:105416113G>A	ENST00000333244.5	-	7	5794	c.5675C>T	c.(5674-5676)cCg>cTg	p.P1892L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1892						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CTGGCCCTCCGGGAGCTTCAT	0.637													.|||	9	0.00179712	0.0015	0.0	5008	,	,		15029	0.0069		0.0	False		,,,				2504	0.0					ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(5674-5676)cCg>cTg		AHNAK nucleoprotein 2							76.0	89.0	85.0					14																	105416113		1874	4063	5937	SO:0001583	missense	113146					nucleus		g.chr14:105416113G>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.5675C>T	14.37:g.105416113G>A	ENSP00000353114:p.Pro1892Leu					AHNAK2_ENST00000557457.1_Intron	p.P1892L	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	5794	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	1892					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.5675C>T	CCDS45177.1	3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	-	11.04	1.520511	0.27211	.	.	ENSG00000185567	ENST00000333244	T	0.03272	3.99	4.34	1.36	0.22044	.	.	.	.	.	T	0.06005	0.0156	M	0.92970	3.365	0.09310	N	1	B	0.29805	0.257	B	0.23419	0.046	T	0.10405	-1.0631	9	0.72032	D	0.01	-15.9189	7.1918	0.25831	0.1539:0.0:0.7109:0.1352	.	1892	Q8IVF2	AHNK2_HUMAN	L	1892	ENSP00000353114:P1892L	ENSP00000353114:P1892L	P	-	2	0	AHNAK2	104487158	0.972000	0.33761	0.000000	0.03702	0.000000	0.00434	2.263000	0.43293	0.287000	0.22375	-0.222000	0.12452	CCG		0.637	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		11	142	0	0	0	1	0	11	142				
KIF13A	63971	broad.mit.edu	37	6	17765031	17765031	+	Silent	SNP	C	C	T			TCGA-FE-A233-01A-11D-A14W-08	TCGA-FE-A233-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8485acc-97ec-4ea6-9a86-debbc1bec114	c978bbee-66b4-4c0c-aa14-7667a1765dbb	g.chr6:17765031C>T	ENST00000259711.6	-	39	4833	c.4728G>A	c.(4726-4728)ctG>ctA	p.L1576L	KIF13A_ENST00000378816.5_Silent_p.L1541L|KIF13A_ENST00000378826.2_Silent_p.L1541L|KIF13A_ENST00000378843.2_Silent_p.L1528L|KIF13A_ENST00000378814.5_Silent_p.L1528L	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	1576					ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			GTGAGTTTGACAGATCTACTT	0.473																																						ENST00000378814.5																			0				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(4582-4584)ctG>ctA		kinesin family member 13A							77.0	75.0	75.0					6																	17765031		1957	4158	6115	SO:0001819	synonymous_variant	63971				cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding	g.chr6:17765031C>T	AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"""Kinesins"""	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.4728G>A	6.37:g.17765031C>T						KIF13A_ENST00000378816.5_Silent_p.L1541L|KIF13A_ENST00000378843.2_Silent_p.L1528L|KIF13A_ENST00000378826.2_Silent_p.L1541L|KIF13A_ENST00000259711.6_Silent_p.L1576L	p.L1528L	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	all cancers(50;0.0865)|Epithelial(50;0.0974)		37	4583	-	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	1576					A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Silent	SNP	ENST00000259711.6	37	c.4584G>A	CCDS47381.1																																																																																				0.473	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039954.4			3	34	0	0	0	1	0	3	34				
LINC00969	440993	broad.mit.edu	37	3	195395399	195395399	+	lincRNA	SNP	G	G	A	rs62287990	byFrequency	TCGA-FE-A233-01A-11D-A14W-08	TCGA-FE-A233-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8485acc-97ec-4ea6-9a86-debbc1bec114	c978bbee-66b4-4c0c-aa14-7667a1765dbb	g.chr3:195395399G>A	ENST00000445430.1	+	0	806									long intergenic non-protein coding RNA 969																		GGCTACGGGCGCACCTACTTG	0.607																																						ENST00000445430.1																			0																																																			0							g.chr3:195395399G>A	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195395399G>A														0	806	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.607	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			4	49	0	0	0	1	0	4	49				
TRAV3	28690	broad.mit.edu	37	14	22192106	22192106	+	RNA	SNP	A	A	G	rs926027	byFrequency	TCGA-FE-A233-01A-11D-A14W-08	TCGA-FE-A233-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8485acc-97ec-4ea6-9a86-debbc1bec114	c978bbee-66b4-4c0c-aa14-7667a1765dbb	g.chr14:22192106A>G	ENST00000390425.2	+	0	147									T cell receptor alpha variable 3 (gene/pseudogene)																		GACCCCCCCAATCCCGCCCGC	0.582													A|||	2290	0.457268	0.3517	0.4092	5008	,	,		15197	0.5427		0.4831	False		,,,				2504	0.5194					ENST00000390425.2																			0															A		1396,2440		265,866,787	98.0	98.0	98.0			-1.1	0.0	14	dbSNP_86	98	4135,4097		1053,2029,1034	no	intergenic				1318,2895,1821	GG,GA,AA		49.7692,36.3921,45.832			22192106	5531,6537	1918	4116	6034			0							g.chr14:22192106A>G	AE000658		14q11.2	2012-02-07	2008-09-12		ENSG00000211777	ENSG00000211777		"""T cell receptors / TRA locus"""	12128	other	T cell receptor gene			"""T cell receptor alpha variable 3"""			8188290	Standard	NG_001332		Approved				OTTHUMG00000168981		14.37:g.22192106A>G														0	147	+									RNA	SNP	ENST00000390425.2	37																																																																																						0.582	TRAV3-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000401876.1	NG_001332		4	77	0	0	0	1	0	4	77				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-FE-A233-01A-11D-A14W-08	TCGA-FE-A233-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8485acc-97ec-4ea6-9a86-debbc1bec114	c978bbee-66b4-4c0c-aa14-7667a1765dbb	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		38	45	0	0	0	1	0	38	45				
ITGBL1	9358	broad.mit.edu	37	13	102235682	102235682	+	Silent	SNP	C	C	A			TCGA-FE-A233-01A-11D-A14W-08	TCGA-FE-A233-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8485acc-97ec-4ea6-9a86-debbc1bec114	c978bbee-66b4-4c0c-aa14-7667a1765dbb	g.chr13:102235682C>A	ENST00000376180.3	+	6	1063	c.844C>A	c.(844-846)Cga>Aga	p.R282R	ITGBL1_ENST00000545560.2_Silent_p.R141R|ITGBL1_ENST00000376162.3_Silent_p.R189R	NM_001271756.1|NM_004791.1	NP_001258685.1|NP_004782.1	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat domains)	282	Cysteine-rich tandem repeats.				cell adhesion (GO:0007155)	extracellular region (GO:0005576)				breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TGTCTATGACCGATATTCTGA	0.458																																						ENST00000376180.3																			0				breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31						c.(844-846)Cga>Aga		integrin, beta-like 1 (with EGF-like repeat domains)							229.0	220.0	223.0					13																	102235682		2203	4300	6503	SO:0001819	synonymous_variant	9358				cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity	g.chr13:102235682C>A	AF072752	CCDS9499.1, CCDS61361.1, CCDS61362.1, CCDS73594.1	13q33	2008-07-18			ENSG00000198542	ENSG00000198542			6164	protein-coding gene	gene with protein product	"""ten integrin EGF-like repeat domains protein"", ""ITGBL1, integrin beta-like 1"""	604234				10051402	Standard	NM_004791		Approved	TIED, OSCP	uc001vpb.4	O95965	OTTHUMG00000017296	ENST00000376180.3:c.844C>A	13.37:g.102235682C>A						ITGBL1_ENST00000376162.3_Silent_p.R189R|ITGBL1_ENST00000545560.2_Silent_p.R141R	p.R282R	NM_001271756.1|NM_004791.1	NP_001258685.1|NP_004782.1	O95965	ITGBL_HUMAN			6	1063	+	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		282			Cysteine-rich tandem repeats.		A8K5M5|B3KTP1|B4DQ02|Q8N172|Q9NPR0	Silent	SNP	ENST00000376180.3	37	c.844C>A	CCDS9499.1																																																																																				0.458	ITGBL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045669.2	NM_004791		74	101	1	0	4.83248e-46	1	5.6379e-46	74	101				
REG1P	5969	broad.mit.edu	37	2	79364374	79364374	+	RNA	SNP	C	C	G	rs11678299	byFrequency	TCGA-FE-A233-01A-11D-A14W-08	TCGA-FE-A233-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8485acc-97ec-4ea6-9a86-debbc1bec114	c978bbee-66b4-4c0c-aa14-7667a1765dbb	g.chr2:79364374C>G	ENST00000444841.1	-	0	260									regenerating islet-derived 1 pseudogene																		AGGTCTCATGCTCTTCATTAA	0.572													G|||	601	0.120008	0.034	0.1599	5008	,	,		18125	0.1935		0.1491	False		,,,				2504	0.1022					ENST00000444841.1																			0																																																			0							g.chr2:79364374C>G			2p12	2008-06-04	2008-06-04	2008-06-04	ENSG00000204787	ENSG00000204787			9953	pseudogene	pseudogene			"""rat regenerating islet-derived-like, human homolog (pancreatic stone protein-like, pancreatic thread protein-like)"", ""regenerating islet-derived-like, pancreatic stone protein-like, pancreatic thread protein-like (rat)"""	REGL		8333731	Standard	NR_002714		Approved	RS	uc002soc.1		OTTHUMG00000152978		2.37:g.79364374C>G														0	260	-									RNA	SNP	ENST00000444841.1	37																																																																																						0.572	REG1P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000328851.1	NR_002714		3	39	0	0	0	1	0	3	39				
AC008132.13	0	broad.mit.edu	37	22	18842454	18842454	+	Intron	SNP	G	G	A			TCGA-FE-A233-01A-11D-A14W-08	TCGA-FE-A233-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8485acc-97ec-4ea6-9a86-debbc1bec114	c978bbee-66b4-4c0c-aa14-7667a1765dbb	g.chr22:18842454G>A	ENST00000412938.1	+	4	2208																											GGCTCAGAGCGGGGCTCACAG	0.632																																						ENST00000412938.1																			0																																																	SO:0001627	intron_variant	0							g.chr22:18842454G>A																												ENST00000412938.1:c.2209-849G>A	22.37:g.18842454G>A														0	2208	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.632	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			4	7	0	0	0	1	0	4	7				
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	G	A			TCGA-FE-A233-01A-11D-A14W-08	TCGA-FE-A233-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8485acc-97ec-4ea6-9a86-debbc1bec114	c978bbee-66b4-4c0c-aa14-7667a1765dbb	g.chr9:20414340G>A	ENST00000380338.4	-	5	790	c.504C>T	c.(502-504)agC>agT	p.S168S	MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	168	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S168S(5)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctactgctgc	0.537			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		5	Substitution - coding silent(5)	p.S168S(5)	lung(2)|urinary_tract(1)|endometrium(1)|kidney(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(502-504)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							9.0	16.0	13.0					9																	20414340		1646	3412	5058	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414340G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.504C>T	9.37:g.20414340G>A						MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000475957.1_5'UTR	p.S168S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	790	-			168			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.504C>T	CCDS6494.1																																																																																				0.537	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		6	90	0	0	0	1	0	6	90				
KRTAP4-9	100132386	broad.mit.edu	37	17	39261693	39261693	+	Missense_Mutation	SNP	A	A	T	rs113059833		TCGA-FE-A233-01A-11D-A14W-08	TCGA-FE-A233-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8485acc-97ec-4ea6-9a86-debbc1bec114	c978bbee-66b4-4c0c-aa14-7667a1765dbb	g.chr17:39261693A>T	ENST00000391415.1	+	1	110	c.53A>T	c.(52-54)gAc>gTc	p.D18V		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	18					aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.D18V(1)		central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						TGCGGCCAAGACCTCTGTCAG	0.627																																						ENST00000391415.1																			1	Substitution - Missense(1)	p.D18V(1)	endometrium(1)	central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						c.(52-54)gAc>gTc		keratin associated protein 4-9							18.0	22.0	21.0					17																	39261693		692	1590	2282	SO:0001583	missense	100132386					keratin filament		g.chr17:39261693A>T	AJ406941	CCDS54124.1	17q21.2	2013-06-25			ENSG00000212722	ENSG00000212722		"""Keratin associated proteins"""	18910	protein-coding gene	gene with protein product							Standard	NM_001146041		Approved	KAP4.9	uc010wfp.2	Q9BYQ8	OTTHUMG00000133584	ENST00000391415.1:c.53A>T	17.37:g.39261693A>T	ENSP00000375234:p.Asp18Val						p.D18V	NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN			1	110	+			18						Missense_Mutation	SNP	ENST00000391415.1	37	c.53A>T	CCDS54124.1	.	.	.	.	.	.	.	.	.	.	.	6.082	0.383461	0.11524	.	.	ENSG00000212722	ENST00000391415;ENST00000333994	T	0.32272	1.46	2.51	0.174	0.15040	.	.	.	.	.	T	0.25865	0.0630	M	0.64404	1.975	0.30580	P	0.762648	B	0.17852	0.024	B	0.14023	0.01	T	0.23154	-1.0196	8	0.45353	T	0.12	.	3.5681	0.07907	0.2702:0.2037:0.5261:0.0	.	18	Q9BYQ8	KRA49_HUMAN	V	18	ENSP00000375234:D18V	ENSP00000334461:D18V	D	+	2	0	KRTAP4-9	36515219	0.000000	0.05858	0.388000	0.26195	0.320000	0.28249	0.098000	0.15189	-0.245000	0.09625	0.155000	0.16302	GAC		0.627	KRTAP4-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257688.1	NM_001146041		5	41	0	0	0	1	0	5	41				
ATP6V1C2	245973	broad.mit.edu	37	2	10917819	10917820	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-FE-A233-01A-11D-A14W-08	TCGA-FE-A233-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8485acc-97ec-4ea6-9a86-debbc1bec114	c978bbee-66b4-4c0c-aa14-7667a1765dbb	g.chr2:10917819_10917820delAG	ENST00000272238.4	+	11	1043_1044	c.934_935delAG	c.(934-936)agafs	p.R312fs	ATP6V1C2_ENST00000381661.3_Intron	NM_001039362.1	NP_001034451.1	Q8NEY4	VATC2_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2	312					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of Wnt signaling pathway (GO:0030177)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)|protein dimerization activity (GO:0046983)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		GCAGACCGACAGAGAGAGAGAG	0.604																																					NSCLC(188;1042 2136 10807 16813 47705)	ENST00000272238.4																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(934-936)afs		ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2																																				SO:0001589	frameshift_variant	245973				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain		g.chr2:10917819_10917820delAG	AY039759	CCDS1674.1, CCDS42653.1	2p25.1	2010-04-21	2006-01-13		ENSG00000143882	ENSG00000143882		"""ATPases / V-type"""	18264	protein-coding gene	gene with protein product			"""ATPase, H+ transporting, lysosomal 42kD, V1 subunit C isoform 2"", ""ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C isoform 2"""			12384298	Standard	XR_426949		Approved	VMA5, ATP6C2	uc002ras.3	Q8NEY4	OTTHUMG00000090459	ENST00000272238.4:c.934_935delAG	2.37:g.10917829_10917830delAG	ENSP00000272238:p.Arg312fs					ATP6V1C2_ENST00000381661.3_Intron	p.R312fs	NM_001039362.1	NP_001034451.1	Q8NEY4	VATC2_HUMAN		Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)	11	1043_1044	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		312					Q96EL8	Frame_Shift_Del	DEL	ENST00000272238.4	37	c.934_935delAG	CCDS42653.1																																																																																				0.604	ATP6V1C2-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000323555.1	NM_144583		7	121						7	121	---	---	---	---
PMS2CL	441194	broad.mit.edu	37	7	6759163	6759164	+	RNA	DEL	AG	AG	-			TCGA-FE-A233-01A-11D-A14W-08	TCGA-FE-A233-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8485acc-97ec-4ea6-9a86-debbc1bec114	c978bbee-66b4-4c0c-aa14-7667a1765dbb	g.chr7:6759163_6759164delAG	ENST00000486256.1	+	0	346					NR_002217.1		Q68D20	PMS2L_HUMAN	PMS2 C-terminal like pseudogene																		aaaaaaaaaaaGACCGTAGGAG	0.495																																						ENST00000486256.1																			0																																																			0							g.chr7:6759163_6759164delAG	BC041364		7p22.1	2010-10-26			ENSG00000187953	ENSG00000187953			30061	pseudogene	pseudogene	"""postmeiotic segregation increased 2 pseudogene 13"""					15256438, 17253626	Standard	NR_002217		Approved	PMS2P13	uc011jxb.1	Q68D20	OTTHUMG00000151857		7.37:g.6759163_6759164delAG								NR_002217.1						0	346	+								B4DK88|Q764P1	RNA	DEL	ENST00000486256.1	37																																																																																						0.495	PMS2CL-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000324193.1	NR_002217		7	35						7	35	---	---	---	---
TRGC2	6967	broad.mit.edu	37	7	38284884	38284885	+	RNA	INS	-	-	GG	rs138091320|rs200076851|rs377514954		TCGA-FE-A233-01A-11D-A14W-08	TCGA-FE-A233-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8485acc-97ec-4ea6-9a86-debbc1bec114	c978bbee-66b4-4c0c-aa14-7667a1765dbb	g.chr7:38284884_38284885insGG	ENST00000436911.2	-	0	330							P03986	TRGC2_HUMAN	T cell receptor gamma constant 2						immune response (GO:0006955)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)										TTATTTGTCAAGgtgtgtgtgt	0.391																																						ENST00000436911.2																			0																																																			0							g.chr7:38284884_38284885insGG	M15002		7p14	2012-02-07			ENSG00000227191	ENSG00000227191		"""T cell receptors / TRG locus"""	12276	other	T cell receptor gene	"""T-cell receptor, gamma, constant region C2"""	615450		TCRGC2		3458221	Standard	NG_001336		Approved	TRGC2(2X), TRGC2(3X)		P03986	OTTHUMG00000155215		7.37:g.38284885_38284886dupGG														0	330	-									RNA	INS	ENST00000436911.2	37																																																																																						0.391	TRGC2-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	TR_C_gene	TR_C_gene	OTTHUMT00000338821.2	NG_001336		27	136						27	136	---	---	---	---
IL32	9235	broad.mit.edu	37	16	3119304	3119305	+	Frame_Shift_Ins	INS	-	-	G	rs398100042|rs2981599		TCGA-FE-A233-01A-11D-A14W-08	TCGA-FE-A233-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8485acc-97ec-4ea6-9a86-debbc1bec114	c978bbee-66b4-4c0c-aa14-7667a1765dbb	g.chr16:3119304_3119305insG	ENST00000534507.1	+	6	864_865	c.653_654insG	c.(652-657)gacaagfs	p.DK218fs	IL32_ENST00000008180.9_Frame_Shift_Ins_p.DK152fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000525643.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.DK209fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.DK132fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.DK218fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.DK196fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.DK115fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.DK152fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.DK115fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.DK162fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.DK152fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.DK163fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.DK172fs|RNU1-125P_ENST00000516752.1_RNA|IL32_ENST00000552356.1_Frame_Shift_Ins_p.DK152fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.DK163fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.DK218fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.DK115fs			P24001	IL32_HUMAN	interleukin 32	218					cell adhesion (GO:0007155)|defense response (GO:0006952)|immune response (GO:0006955)	extracellular space (GO:0005615)|membrane (GO:0016020)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						CCACGGGGGGACAAGGAGGAGC	0.574																																						ENST00000525643.2																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						c.(514-516)gaafs		interleukin 32																																				SO:0001589	frameshift_variant	9235				cell adhesion|defense response|immune response	extracellular space	cytokine activity	g.chr16:3119304_3119305insG	M59807	CCDS32377.1, CCDS32378.1, CCDS32379.1, CCDS45394.1	16p13.3	2011-07-21			ENSG00000008517	ENSG00000008517		"""Interleukins and interleukin receptors"""	16830	protein-coding gene	gene with protein product	"""natural killer cell transcript 4"""	606001				1729377, 9653642	Standard	XM_005255686		Approved	NK4, TAIF, TAIFb, TAIFd	uc002ctn.3	P24001	OTTHUMG00000167498	Exception_encountered	16.37:g.3119304_3119305insG	ENSP00000431775:p.Asp218fs					IL32_ENST00000382213.3_Frame_Shift_Ins_p.E163fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.E172fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.E162fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.E218fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.E115fs|IL32_ENST00000534507.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.E152fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.E196fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.E209fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.E132fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.E163fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.E218fs	p.E172fs			P24001	IL32_HUMAN			7	847_848	+			218					A6NNM0|A8MPX0|B4DJM1|B8Q191|D3DUB0|D3DUB2|Q5VFH7|Q5VFH8|Q8WV38|Q96GK9	Frame_Shift_Ins	INS	ENST00000534507.1	37	c.515_516insG																																																																																					0.574	IL32-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000394812.2	NM_004221		7	213						7	213	---	---	---	---
RP11-252A24.2	0	broad.mit.edu	37	16	74378976	74378976	+	RNA	DEL	T	T	-	rs35591542		TCGA-FE-A233-01A-11D-A14W-08	TCGA-FE-A233-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8485acc-97ec-4ea6-9a86-debbc1bec114	c978bbee-66b4-4c0c-aa14-7667a1765dbb	g.chr16:74378976delT	ENST00000429810.2	-	0	1086																											ACCTCTTGAAttttttttttt	0.418																																						ENST00000429810.2																			0																																																			0							g.chr16:74378976delT																													16.37:g.74378976delT														0	1086	-									RNA	DEL	ENST00000429810.2	37																																																																																						0.418	RP11-252A24.2-003	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000434683.1			2	4						2	4	---	---	---	---
LRRC37BP1	147172	broad.mit.edu	37	17	28960996	28960997	+	RNA	INS	-	-	TC	rs535345037|rs200505543|rs199547031	byFrequency	TCGA-FE-A233-01A-11D-A14W-08	TCGA-FE-A233-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8485acc-97ec-4ea6-9a86-debbc1bec114	c978bbee-66b4-4c0c-aa14-7667a1765dbb	g.chr17:28960996_28960997insTC	ENST00000417404.1	+	0	1269									leucine rich repeat containing 37B pseudogene 1																		tttttctttttttttttttttt	0.302																																						ENST00000417404.1																			0																																																			0							g.chr17:28960996_28960997insTC	BC118647		17q11.2	2012-10-05	2010-08-16	2010-08-16	ENSG00000250462	ENSG00000250462			25390	pseudogene	pseudogene			"""leucine rich repeat containing 37, member B2"""	LRRC37B2			Standard	NR_015341		Approved	DKFZp667M2411	uc010csj.3		OTTHUMG00000132795		17.37:g.28960996_28960997insTC						SMURF2P1_ENST00000578265.1_RNA|LRRC37BP1_ENST00000412831.1_RNA								0	1269	+									RNA	INS	ENST00000417404.1	37																																																																																						0.302	LRRC37BP1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000256203.1	NR_015341		7	34						7	34	---	---	---	---
