#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
ANAPC1	64682	broad.mit.edu	37	2	112608394	112608394	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr2:112608394T>C	ENST00000341068.3	-	14	2381	c.1609A>G	c.(1609-1611)Act>Gct	p.T537A		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	537					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)		p.T537A(5)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						GGCTTTGGAGTACTAACGCCA	0.433																																						ENST00000341068.3																			5	Substitution - Missense(5)	p.T537A(5)	lung(3)|kidney(1)|endometrium(1)	NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						c.(1609-1611)Act>Gct		anaphase promoting complex subunit 1							109.0	106.0	107.0					2																	112608394		2203	4300	6503	SO:0001583	missense	64682				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm		g.chr2:112608394T>C	AJ278357	CCDS2093.1	2q12.1	2011-06-15			ENSG00000153107	ENSG00000153107		"""Anaphase promoting complex subunits"""	19988	protein-coding gene	gene with protein product		608473				11179667	Standard	NM_022662		Approved	MCPR, TSG24, APC1	uc002ssh.3	Q9H1A4	OTTHUMG00000131277	ENST00000341068.3:c.1609A>G	2.37:g.112608394T>C	ENSP00000339109:p.Thr537Ala						p.T537A	NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN			14	2381	-			537					Q2M3H8|Q9BSE6|Q9H8D0	Missense_Mutation	SNP	ENST00000341068.3	37	c.1609A>G	CCDS2093.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	4.716|4.716	0.133071|0.133071	0.09032|0.09032	.|.	.|.	ENSG00000153107|ENSG00000153107	ENST00000341068|ENST00000427997	.|.	.|.	.|.	4.57|4.57	3.37|3.37	0.38596|0.38596	.|.	0.273018|.	0.23039|.	U|.	0.052629|.	T|T	0.55305|0.55305	0.1912|0.1912	L|L	0.45352|0.45352	1.415|1.415	0.37887|0.37887	D|D	0.930579|0.930579	B|.	0.14438|.	0.01|.	B|.	0.18263|.	0.021|.	T|T	0.53535|0.53535	-0.8425|-0.8425	9|5	0.08837|.	T|.	0.75|.	-8.0757|-8.0757	10.3103|10.3103	0.43704|0.43704	0.1479:0.0:0.0:0.8521|0.1479:0.0:0.0:0.8521	.|.	537|.	Q9H1A4|.	APC1_HUMAN|.	A|C	537|71	.|.	ENSP00000339109:T537A|.	T|Y	-|-	1|2	0|0	ANAPC1|ANAPC1	112324865|112324865	1.000000|1.000000	0.71417|0.71417	0.138000|0.138000	0.22173|0.22173	0.127000|0.127000	0.20565|0.20565	3.555000|3.555000	0.53727|0.53727	0.570000|0.570000	0.29347|0.29347	0.369000|0.369000	0.22263|0.22263	ACT|TAC		0.433	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254045.2	NM_022662		4	188	0	0	0	1	0	4	188				
GABRB1	2560	broad.mit.edu	37	4	47427733	47427733	+	Missense_Mutation	SNP	C	C	T	rs369644137		TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr4:47427733C>T	ENST00000295454.3	+	9	1415	c.1123C>T	c.(1123-1125)Cgg>Tgg	p.R375W	GABRB1_ENST00000538619.1_Missense_Mutation_p.R305W	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	375					cellular response to histamine (GO:0071420)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|ligand-gated ion channel activity (GO:0015276)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Gamma Hydroxybutyric Acid(DB01440)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lindane(DB00431)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CCTGGAAATCCGGAATGAGAC	0.562																																						ENST00000295454.3																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(1123-1125)Cgg>Tgg		gamma-aminobutyric acid (GABA) A receptor, beta 1	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	C	TRP/ARG	0,4406		0,0,2203	74.0	74.0	74.0		1123	0.0	1.0	4		74	1,8599	1.2+/-3.3	0,1,4299	no	missense	GABRB1	NM_000812.3	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	375/475	47427733	1,13005	2203	4300	6503	SO:0001583	missense	2560				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:47427733C>T		CCDS3474.1	4p12	2012-06-22			ENSG00000163288	ENSG00000163288		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4081	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 1"""	137190					Standard	NM_000812		Approved		uc003gxh.3	P18505	OTTHUMG00000044269	ENST00000295454.3:c.1123C>T	4.37:g.47427733C>T	ENSP00000295454:p.Arg375Trp					GABRB1_ENST00000538619.1_Missense_Mutation_p.R305W	p.R375W	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN			9	1415	+			375					B2R6U7|D6REL3|Q16166|Q8TBK3	Missense_Mutation	SNP	ENST00000295454.3	37	c.1123C>T	CCDS3474.1	.	.	.	.	.	.	.	.	.	.	C	17.57	3.423245	0.62733	0.0	1.16E-4	ENSG00000163288	ENST00000295454;ENST00000538619	D;D	0.86030	-2.06;-2.06	5.48	0.0286	0.14159	Neurotransmitter-gated ion-channel transmembrane domain (2);	1.971540	0.02549	N	0.095469	D	0.90882	0.7135	M	0.63843	1.955	0.38401	D	0.94566	P;D	0.76494	0.952;0.999	P;P	0.57846	0.764;0.828	T	0.81398	-0.0951	10	0.72032	D	0.01	-17.21	16.4545	0.84008	0.4141:0.5859:0.0:0.0	.	305;375	F5GXV5;P18505	.;GBRB1_HUMAN	W	375;305	ENSP00000295454:R375W;ENSP00000440330:R305W	ENSP00000295454:R375W	R	+	1	2	GABRB1	47122490	1.000000	0.71417	0.991000	0.47740	0.783000	0.44284	1.426000	0.34870	-0.099000	0.12263	-0.271000	0.10264	CGG		0.562	GABRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216896.1			8	166	0	0	0	1	0	8	166				
NIF3L1	60491	broad.mit.edu	37	2	201756971	201756971	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr2:201756971G>A	ENST00000409020.1	+	2	599	c.305G>A	c.(304-306)cGc>cAc	p.R102H	NIF3L1_ENST00000416651.1_Missense_Mutation_p.R102H|NIF3L1_ENST00000359683.4_Missense_Mutation_p.R75H|PPIL3_ENST00000465823.1_5'Flank|NIF3L1_ENST00000409588.1_Missense_Mutation_p.R102H|PPIL3_ENST00000286175.8_5'Flank|NIF3L1_ENST00000409357.1_Missense_Mutation_p.R102H|PPIL3_ENST00000409449.1_5'Flank			Q9GZT8	GTPC1_HUMAN	NIF3 NGG1 interacting factor 3-like 1 (S. cerevisiae)	102					7,8-dihydroneopterin 3'-triphosphate biosynthetic process (GO:0035998)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTP cyclohydrolase I activity (GO:0003934)|metal ion binding (GO:0046872)|transcription factor binding (GO:0008134)	p.R102H(1)|p.R75H(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(2)	13						CCCATGAAGCGCATAACCTGG	0.547																																						ENST00000409020.1																			2	Substitution - Missense(2)	p.R102H(1)|p.R75H(1)	urinary_tract(2)	cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(2)	13						c.(304-306)cGc>cAc		NIF3 NGG1 interacting factor 3-like 1 (S. cerevisiae)							123.0	119.0	120.0					2																	201756971		1951	4145	6096	SO:0001583	missense	60491				positive regulation of transcription, DNA-dependent		transcription factor binding	g.chr2:201756971G>A	AB038949	CCDS42797.1, CCDS46485.1, CCDS46486.1	2q33	2011-11-10	2011-11-10		ENSG00000196290	ENSG00000196290			13390	protein-coding gene	gene with protein product		605778	"""NIF3 (Ngg1 interacting factor 3, S.pombe homolog)-like 1"", ""NIF3 NGG1 interacting factor 3-like 1 (S. pombe)"""	ALS2CR1		11124544, 11161814, 12522100	Standard	NM_001136039		Approved	CALS-7, MDS015	uc002uwm.2	Q9GZT8	OTTHUMG00000154588	ENST00000409020.1:c.305G>A	2.37:g.201756971G>A	ENSP00000386394:p.Arg102His					NIF3L1_ENST00000359683.4_Missense_Mutation_p.R75H|NIF3L1_ENST00000409357.1_Missense_Mutation_p.R102H|NIF3L1_ENST00000409588.1_Missense_Mutation_p.R102H|NIF3L1_ENST00000416651.1_Missense_Mutation_p.R102H	p.R102H			Q9GZT8	NIF3L_HUMAN			2	599	+			102					Q53TX4|Q6X735|Q9H2D2|Q9HC18	Missense_Mutation	SNP	ENST00000409020.1	37	c.305G>A	CCDS46485.1	.	.	.	.	.	.	.	.	.	.	G	12.76	2.035474	0.35893	.	.	ENSG00000196290	ENST00000426253;ENST00000416651;ENST00000454952;ENST00000409020;ENST00000359683;ENST00000409357;ENST00000409129;ENST00000374679;ENST00000409588	T;T;T;T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91	4.84	-0.883	0.10600	.	0.355351	0.33272	N	0.005088	T	0.26159	0.0638	L	0.37800	1.135	0.37025	D	0.896406	P;B	0.38300	0.626;0.27	B;B	0.34931	0.192;0.141	T	0.11867	-1.0570	10	0.26408	T	0.33	-0.0495	9.6839	0.40087	0.3957:0.0:0.6043:0.0	.	102;102	Q6X735;Q9GZT8	.;NIF3L_HUMAN	H	75;102;102;102;75;102;75;102;102	ENSP00000412761:R75H;ENSP00000400787:R102H;ENSP00000394955:R102H;ENSP00000386394:R102H;ENSP00000352711:R75H;ENSP00000387315:R102H;ENSP00000387061:R75H;ENSP00000387021:R102H	ENSP00000352711:R75H	R	+	2	0	NIF3L1	201465216	0.540000	0.26410	0.002000	0.10522	0.858000	0.48976	0.912000	0.28597	-0.390000	0.07774	0.455000	0.32223	CGC		0.547	NIF3L1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336201.1	NM_021824		4	195	0	0	0	1	0	4	195				
NFE2L1	4779	broad.mit.edu	37	17	46136011	46136011	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr17:46136011G>C	ENST00000362042.3	+	6	1943	c.1327G>C	c.(1327-1329)Gat>Cat	p.D443H	NFE2L1_ENST00000357480.5_Missense_Mutation_p.D413H|RP5-890E16.4_ENST00000583349.1_RNA|NFE2L1_ENST00000582155.1_Missense_Mutation_p.D255H|NFE2L1_ENST00000585291.1_Missense_Mutation_p.D413H|NFE2L1_ENST00000361665.3_Missense_Mutation_p.D432H|NFE2L1_ENST00000583378.1_Missense_Mutation_p.D244H|NFE2L1_ENST00000536222.1_Missense_Mutation_p.D287H	NM_003204.2	NP_003195.1	Q14494	NF2L1_HUMAN	nuclear factor, erythroid 2-like 1	443					anatomical structure morphogenesis (GO:0009653)|erythrocyte differentiation (GO:0030218)|heme biosynthetic process (GO:0006783)|inflammatory response (GO:0006954)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)			cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GGGTCTGTTAGATGAAGCTAT	0.547																																						ENST00000362042.3																			0				cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1327-1329)Gat>Cat		nuclear factor, erythroid 2-like 1							81.0	82.0	82.0					17																	46136011		2203	4300	6503	SO:0001583	missense	4779				anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr17:46136011G>C	AK090459	CCDS11524.1	17q21.3	2013-08-23	2013-08-23			ENSG00000082641		"""basic leucine zipper proteins"""	7781	protein-coding gene	gene with protein product		163260	"""nuclear factor (erythroid-derived 2)-like 1"""	TCF11		8248256, 9501099	Standard	NM_003204		Approved	NRF1, LCR-F1, FLJ00380	uc002imz.4	Q14494		ENST00000362042.3:c.1327G>C	17.37:g.46136011G>C	ENSP00000354855:p.Asp443His					NFE2L1_ENST00000582155.1_Missense_Mutation_p.D255H|NFE2L1_ENST00000585291.1_Missense_Mutation_p.D413H|NFE2L1_ENST00000361665.3_Missense_Mutation_p.D432H|NFE2L1_ENST00000357480.5_Missense_Mutation_p.D413H|NFE2L1_ENST00000583378.1_Missense_Mutation_p.D244H|NFE2L1_ENST00000536222.1_Missense_Mutation_p.D287H	p.D443H	NM_003204.2	NP_003195.1	Q14494	NF2L1_HUMAN			6	1943	+			443					D3DTU3|D3DTU5|Q12877|Q96FN6	Missense_Mutation	SNP	ENST00000362042.3	37	c.1327G>C	CCDS11524.1	.	.	.	.	.	.	.	.	.	.	G	13.79	2.342337	0.41498	.	.	ENSG00000082641	ENST00000362042;ENST00000361665;ENST00000357480;ENST00000536222	D;D;D	0.95447	-3.62;-3.71;-3.71	5.34	3.33	0.38152	.	0.046883	0.85682	D	0.000000	D	0.96904	0.8989	M	0.78049	2.395	0.50632	D	0.999881	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.71656	0.974;0.921;0.948;0.945	D	0.96133	0.9094	10	0.87932	D	0	-17.3304	9.5329	0.39205	0.0759:0.0:0.7819:0.1422	.	287;255;413;443	F5H1B7;B4DYE1;Q14494-2;Q14494	.;.;.;NF2L1_HUMAN	H	462;443;413;287	ENSP00000355190:D443H;ENSP00000350072:D413H;ENSP00000445811:D287H	ENSP00000350072:D413H	D	+	1	0	NFE2L1	43491010	1.000000	0.71417	0.390000	0.26220	0.942000	0.58702	7.553000	0.82203	0.628000	0.30357	0.455000	0.32223	GAT		0.547	NFE2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443019.1	NM_003204		37	118	0	0	0	1	0	37	118				
VAV1	7409	broad.mit.edu	37	19	6822285	6822285	+	Missense_Mutation	SNP	C	C	T	rs186483354		TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr19:6822285C>T	ENST00000602142.1	+	5	585	c.503C>T	c.(502-504)gCg>gTg	p.A168V	VAV1_ENST00000304076.2_Missense_Mutation_p.A168V|VAV1_ENST00000599806.1_Missense_Mutation_p.A113V|VAV1_ENST00000539284.1_Missense_Mutation_p.A103V|VAV1_ENST00000596764.1_Missense_Mutation_p.A168V	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	168					apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|reactive oxygen species metabolic process (GO:0072593)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						AATGAGGAGGCGGAAGGCGAC	0.647													C|||	1	0.000199681	0.0	0.0	5008	,	,		15368	0.001		0.0	False		,,,				2504	0.0					ENST00000304076.2																			0				biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						c.(502-504)gCg>gTg		vav 1 guanine nucleotide exchange factor							112.0	83.0	93.0					19																	6822285		2201	4298	6499	SO:0001583	missense	7409				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr19:6822285C>T		CCDS12174.1, CCDS59341.1, CCDS59342.1	19p13.2	2013-02-14	2007-07-25			ENSG00000141968		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12657	protein-coding gene	gene with protein product		164875	"""vav 1 oncogene"""	VAV		9438848	Standard	NM_005428		Approved		uc010xjh.2	P15498		ENST00000602142.1:c.503C>T	19.37:g.6822285C>T	ENSP00000472929:p.Ala168Val					VAV1_ENST00000599806.1_Missense_Mutation_p.A113V|VAV1_ENST00000602142.1_Missense_Mutation_p.A168V|VAV1_ENST00000596764.1_Missense_Mutation_p.A168V|VAV1_ENST00000539284.1_Missense_Mutation_p.A103V	p.A168V	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN			5	597	+			168					B4DVK9|M0QXX6|Q15860	Missense_Mutation	SNP	ENST00000602142.1	37	c.503C>T	CCDS12174.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	12.64	1.999167	0.35226	.	.	ENSG00000141968	ENST00000304076;ENST00000539284	T;T	0.61040	0.14;0.3	4.17	4.17	0.49024	Dbl homology (DH) domain (1);Calponin homology domain (1);	0.275280	0.32055	N	0.006651	T	0.25606	0.0623	N	0.03608	-0.345	0.30489	N	0.771546	P;P;B;B	0.44260	0.83;0.669;0.284;0.318	B;B;B;B	0.31495	0.131;0.084;0.048;0.046	T	0.17137	-1.0379	10	0.30854	T	0.27	.	9.5655	0.39396	0.2096:0.7903:0.0:0.0	.	103;168;113;168	F5H5P4;B2R8B5;Q96D37;P15498	.;.;.;VAV_HUMAN	V	168;103	ENSP00000302269:A168V;ENSP00000443242:A103V	ENSP00000302269:A168V	A	+	2	0	VAV1	6773285	0.982000	0.34865	0.990000	0.47175	0.904000	0.53231	2.558000	0.45879	2.323000	0.78572	0.563000	0.77884	GCG		0.647	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458475.1			3	22	0	0	0	1	0	3	22				
PNPLA5	150379	broad.mit.edu	37	22	44285287	44285287	+	Missense_Mutation	SNP	G	G	T	rs367551416		TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr22:44285287G>T	ENST00000597664.1	-	4	753	c.624C>A	c.(622-624)aaC>aaA	p.N208K	PNPLA5_ENST00000593866.1_Missense_Mutation_p.N94K|PNPLA5_ENST00000381198.2_Missense_Mutation_p.N94K|PNPLA5_ENST00000216177.4_Missense_Mutation_p.N208K			Q7Z6Z6	PLPL5_HUMAN	patatin-like phospholipase domain containing 5	208					lipid catabolic process (GO:0016042)		hydrolase activity (GO:0016787)			endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	16		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				AGTTGAAGACGTTCAGCTCAT	0.577																																						ENST00000216177.4																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	16						c.(622-624)aaC>aaA		patatin-like phospholipase domain containing 5							137.0	137.0	137.0					22																	44285287		2203	4300	6503	SO:0001583	missense	150379				lipid catabolic process		hydrolase activity	g.chr22:44285287G>T	Z97055	CCDS14053.1, CCDS54537.1	22q13.31	2009-01-12			ENSG00000100341	ENSG00000100341		"""Patatin-like phospholipase domain containing"""	24888	protein-coding gene	gene with protein product		611589				16799181, 19029121	Standard	NM_138814		Approved	dJ388M5.4, GS2L	uc003beg.3	Q7Z6Z6	OTTHUMG00000030779	ENST00000597664.1:c.624C>A	22.37:g.44285287G>T	ENSP00000471069:p.Asn208Lys					PNPLA5_ENST00000597664.1_Missense_Mutation_p.N208K|PNPLA5_ENST00000593866.1_Missense_Mutation_p.N94K|PNPLA5_ENST00000381198.2_Missense_Mutation_p.N94K	p.N208K	NM_138814.3	NP_620169.1	Q7Z6Z6	PLPL5_HUMAN			4	756	-		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)	208					B1AHL8|B3KPR1|Q6ZST0	Missense_Mutation	SNP	ENST00000597664.1	37	c.624C>A		.	.	.	.	.	.	.	.	.	.	G	11.09	1.535361	0.27475	.	.	ENSG00000100341	ENST00000216177;ENST00000381198	T;T	0.77489	-1.1;0.95	5.21	-10.4	0.00318	Acyl transferase/acyl hydrolase/lysophospholipase (1);	0.792338	0.11443	N	0.563568	T	0.68238	0.2979	L	0.60455	1.87	0.09310	N	1	P;P	0.48764	0.915;0.704	P;B	0.51615	0.675;0.206	T	0.57159	-0.7859	10	0.07644	T	0.81	-5.0022	5.716	0.17960	0.2499:0.1021:0.5633:0.0846	.	94;208	Q7Z6Z6-2;Q7Z6Z6	.;PLPL5_HUMAN	K	208;94	ENSP00000216177:N208K;ENSP00000370595:N94K	ENSP00000216177:N208K	N	-	3	2	PNPLA5	42616620	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.399000	0.00240	-2.367000	0.00605	-1.267000	0.01435	AAC		0.577	PNPLA5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000075667.4	NM_138814		5	280	1	0	0.184627	1	0.18832	5	280				
SLC25A28	81894	broad.mit.edu	37	10	101373523	101373523	+	Silent	SNP	G	G	A			TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr10:101373523G>A	ENST00000370495.4	-	2	478	c.450C>T	c.(448-450)gcC>gcT	p.A150A	SLC25A28_ENST00000496035.1_5'UTR	NM_031212.3	NP_112489.3	Q96A46	MFRN2_HUMAN	solute carrier family 25 (mitochondrial iron transporter), member 28	150					ion transport (GO:0006811)|iron ion homeostasis (GO:0055072)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|stomach(1)	11		Colorectal(252;0.234)		Epithelial(162;2.57e-10)|all cancers(201;2.01e-08)		TTTCGTAGCAGGCAAAATAAA	0.532																																						ENST00000370495.4																			0				endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|stomach(1)	11						c.(448-450)gcC>gcT		solute carrier family 25 (mitochondrial iron transporter), member 28							62.0	67.0	65.0					10																	101373523		1904	4113	6017	SO:0001819	synonymous_variant	81894				ion transport|iron ion homeostasis	integral to membrane|mitochondrial inner membrane		g.chr10:101373523G>A	AF327402	CCDS41559.1	10q24.2	2013-05-22	2012-03-29		ENSG00000155287	ENSG00000155287		"""Solute carriers"""	23472	protein-coding gene	gene with protein product	"""mitoferrin 2"""	609767	"""solute carrier family 25, member 28"""			11297739	Standard	NM_031212		Approved	MRS3/4, MRS4L	uc001kpx.2	Q96A46	OTTHUMG00000018886	ENST00000370495.4:c.450C>T	10.37:g.101373523G>A						SLC25A28_ENST00000496035.1_5'UTR	p.A150A	NM_031212.3	NP_112489.3	Q96A46	MFRN2_HUMAN		Epithelial(162;2.57e-10)|all cancers(201;2.01e-08)	2	478	-		Colorectal(252;0.234)	150					Q4VBZ0|Q5T777|Q86VX5|Q969G8|Q9H2J3	Silent	SNP	ENST00000370495.4	37	c.450C>T	CCDS41559.1																																																																																				0.532	SLC25A28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049801.1	NM_031212		16	68	0	0	0	1	0	16	68				
PCDHA12	56137	broad.mit.edu	37	5	140256667	140256667	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr5:140256667C>T	ENST00000398631.2	+	1	1610	c.1610C>T	c.(1609-1611)gCg>gTg	p.A537V	PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	537	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGGTGAGCGCGCGCGACGCC	0.687																																					Pancreas(113;759 1672 13322 24104 50104)	ENST00000398631.2																			0				NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						c.(1609-1611)gCg>gTg									75.0	83.0	81.0					5																	140256667		2203	4298	6501	SO:0001583	missense	0							g.chr5:140256667C>T	AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"""Cadherins / Protocadherins : Clustered"""	8666	other	complex locus constituent	"""KIAA0345-like 2"""	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.1610C>T	5.37:g.140256667C>T	ENSP00000381628:p.Ala537Val					PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron	p.A537V	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1610	+								O75278|Q2M1N8	Missense_Mutation	SNP	ENST00000398631.2	37	c.1610C>T	CCDS47285.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.980305	0.92982	.	.	ENSG00000251664	ENST00000398631	T	0.73363	-0.74	4.92	4.92	0.64577	Cadherin (5);Cadherin-like (1);	.	.	.	.	D	0.85779	0.5776	M	0.78801	2.425	0.48395	D	0.999642	D;D	0.71674	0.986;0.998	D;P	0.65573	0.936;0.787	D	0.87917	0.2701	9	0.72032	D	0.01	.	17.695	0.88278	0.0:1.0:0.0:0.0	.	537;537	Q9UN75-2;Q9UN75	.;PCDAC_HUMAN	V	537	ENSP00000381628:A537V	ENSP00000381628:A537V	A	+	2	0	PCDHA12	140236851	0.906000	0.30813	1.000000	0.80357	0.859000	0.49053	1.874000	0.39568	2.271000	0.75665	0.561000	0.74099	GCG		0.687	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372882.2	NM_018903		7	336	0	0	0	1	0	7	336				
PDCD5	9141	broad.mit.edu	37	19	33077770	33077770	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr19:33077770G>C	ENST00000590247.2	+	5	459	c.265G>C	c.(265-267)Gaa>Caa	p.E89Q	PDCD5_ENST00000379316.3_Intron|PDCD5_ENST00000592786.1_Missense_Mutation_p.R58T|PDCD5_ENST00000419343.3_3'UTR|PDCD5_ENST00000586035.1_Missense_Mutation_p.E51Q	NM_004708.3	NP_004699.1	O14737	PDCD5_HUMAN	programmed cell death 5	89					apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|large_intestine(2)|lung(1)|ovary(1)	5	Esophageal squamous(110;0.137)					CTAGGTATCAGAACAAGGTTT	0.343																																						ENST00000590247.1																			0				breast(1)|large_intestine(2)|lung(1)|ovary(1)	5						c.(265-267)Gaa>Caa		programmed cell death 5							73.0	78.0	76.0					19																	33077770		2203	4300	6503	SO:0001583	missense	9141				apoptosis|induction of apoptosis	cytoplasm|nucleus	DNA binding	g.chr19:33077770G>C	AF014955	CCDS12423.1	19q13.11	2012-10-15			ENSG00000105185	ENSG00000105185			8764	protein-coding gene	gene with protein product	"""TFAR19 novel apoptosis-related"", ""TF1 cell apoptosis-related gene 19"""	604583				9920759	Standard	NM_004708		Approved	TFAR19, MGC9294	uc002ntm.3	O14737	OTTHUMG00000180224	ENST00000590247.2:c.265G>C	19.37:g.33077770G>C	ENSP00000466214:p.Glu89Gln					PDCD5_ENST00000586035.1_Missense_Mutation_p.E51Q|PDCD5_ENST00000379316.3_Intron|PDCD5_ENST00000592786.1_Missense_Mutation_p.R58T	p.E89Q	NM_004708.3	NP_004699.1	O14737	PDCD5_HUMAN			5	459	+	Esophageal squamous(110;0.137)		89					B4DE64|Q53YC9|Q6IB70	Missense_Mutation	SNP	ENST00000590247.2	37	c.265G>C	CCDS12423.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.391296	0.83011	.	.	ENSG00000105185	ENST00000221784	.	.	.	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	D	0.87111	0.6096	H	0.96365	3.81	0.80722	D	1	D	0.60575	0.988	P	0.61533	0.89	D	0.90871	0.4746	9	0.87932	D	0	.	19.3088	0.94175	0.0:0.0:1.0:0.0	.	89	O14737	PDCD5_HUMAN	Q	89	.	ENSP00000221784:E89Q	E	+	1	0	PDCD5	37769610	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	7.522000	0.81844	2.655000	0.90218	0.462000	0.41574	GAA		0.343	PDCD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450320.2	NM_004708		23	94	0	0	0	1	0	23	94				
FAM86EP	348926	broad.mit.edu	37	4	3948417	3948417	+	RNA	SNP	C	C	G			TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr4:3948417C>G	ENST00000313946.8	-	0	1232				AC226119.5_ENST00000281228.8_RNA					family with sequence similarity 86, member E, pseudogene																		ACGCCGGCGCCCAGTTCTTTC	0.652																																						ENST00000313946.8																			0																																																			0							g.chr4:3948417C>G			4p16.3	2011-07-01			ENSG00000251669	ENSG00000251669			28017	pseudogene	pseudogene						12477932	Standard	NR_024253		Approved		uc011bvu.2		OTTHUMG00000159867		4.37:g.3948417C>G														0	1232	-									RNA	SNP	ENST00000313946.8	37																																																																																						0.652	FAM86EP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000357822.1			21	53	0	0	0	1	0	21	53				
PCDHB16	57717	broad.mit.edu	37	5	140563584	140563584	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr5:140563584G>A	ENST00000361016.2	+	1	2605	c.1450G>A	c.(1450-1452)Gcc>Acc	p.A484T		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	484	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A484T(1)		breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGCACCAACGCCCAGGTCAC	0.652																																						ENST00000361016.2																			1	Substitution - Missense(1)	p.A484T(1)	endometrium(1)	breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69						c.(1450-1452)Gcc>Acc									52.0	49.0	50.0					5																	140563584		2203	4277	6480	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140563584G>A	AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"""Cadherins / Protocadherins : Clustered"""	14546	other	protocadherin	"""cadherin ME1"", ""protocadherin-3x"", ""PCDHbeta 16"""	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325	ENST00000361016.2:c.1450G>A	5.37:g.140563584G>A	ENSP00000354293:p.Ala484Thr						p.A484T	NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2605	+			484			Cadherin 5.		B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Missense_Mutation	SNP	ENST00000361016.2	37	c.1450G>A	CCDS4251.1	.	.	.	.	.	.	.	.	.	.	g	23.8	4.456235	0.84317	.	.	ENSG00000196963	ENST00000361016	T	0.52295	0.67	4.26	3.37	0.38596	Cadherin (4);Cadherin-like (1);	0.245989	0.21125	N	0.079745	T	0.75110	0.3805	H	0.95004	3.61	0.30726	N	0.747701	D	0.89917	1.0	D	0.71656	0.974	T	0.79470	-0.1790	10	0.87932	D	0	.	13.2084	0.59811	0.0:0.0:0.8399:0.1601	.	484	Q9NRJ7	PCDBG_HUMAN	T	484	ENSP00000354293:A484T	ENSP00000354293:A484T	A	+	1	0	PCDHB16	140543768	0.996000	0.38824	0.995000	0.50966	0.702000	0.40608	3.759000	0.55227	0.760000	0.33108	0.580000	0.79431	GCC		0.652	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957		82	349	0	0	0	1	0	82	349				
SKIDA1	387640	broad.mit.edu	37	10	21805483	21805483	+	Silent	SNP	C	C	T			TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr10:21805483C>T	ENST00000449193.2	-	4	3521	c.1269G>A	c.(1267-1269)gaG>gaA	p.E423E	SKIDA1_ENST00000444772.3_Silent_p.E344E|SKIDA1_ENST00000487107.1_5'Flank	NM_207371.3	NP_997254.3	Q1XH10	SKDA1_HUMAN	SKI/DACH domain containing 1	342						nucleus (GO:0005634)											cctcctcttcctcctcctcct	0.627																																						ENST00000449193.2																			0											c.(1267-1269)gaG>gaA		SKI/DACH domain containing 1							5.0	6.0	6.0					10																	21805483		2007	4123	6130	SO:0001819	synonymous_variant	387640							g.chr10:21805483C>T	AK131456	CCDS44363.1	10p12.31	2012-06-13	2012-06-13	2012-06-13	ENSG00000180592	ENSG00000180592			32697	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 140"""	C10orf140			Standard	NM_207371		Approved	FLJ45187	uc021pnx.1	Q1XH10	OTTHUMG00000017797	ENST00000449193.2:c.1269G>A	10.37:g.21805483C>T						SKIDA1_ENST00000444772.3_Silent_p.E344E	p.E423E	NM_207371.3	NP_997254.3					4	3521	-								B1ANA5|Q6ZMX4|Q8N3C3	Silent	SNP	ENST00000449193.2	37	c.1269G>A	CCDS44363.1																																																																																				0.627	SKIDA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286950.2	NM_207371		3	5	0	0	0	1	0	3	5				
ANXA7	310	broad.mit.edu	37	10	75139867	75139867	+	Silent	SNP	G	G	A	rs138551538	byFrequency	TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr10:75139867G>A	ENST00000372921.5	-	10	1067	c.1011C>T	c.(1009-1011)acC>acT	p.T337T	RP11-537A6.9_ENST00000427492.1_RNA|ANXA7_ENST00000535178.1_Silent_p.T207T	NM_001156.3	NP_001147.1	P20073	ANXA7_HUMAN	annexin A7	359					autophagy (GO:0006914)|cell proliferation (GO:0008283)|cellular calcium ion homeostasis (GO:0006874)|cellular water homeostasis (GO:0009992)|epithelial cell differentiation (GO:0030855)|hemostasis (GO:0007599)|membrane fusion (GO:0061025)|negative regulation of gene expression (GO:0010629)|regulation of cell shape (GO:0008360)|response to calcium ion (GO:0051592)|response to organic cyclic compound (GO:0014070)|response to salt stress (GO:0009651)|social behavior (GO:0035176)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|integrin binding (GO:0005178)|poly(A) RNA binding (GO:0044822)	p.T359T(2)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	26	Prostate(51;0.0119)					AAGATTCATCGGTCCCTAGTC	0.458																																						ENST00000372921.4																			2	Substitution - coding silent(2)	p.T359T(2)	lung(1)|endometrium(1)	breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	26						c.(1009-1011)acC>acT		annexin A7		G	,	2,4404	4.2+/-10.8	0,2,2201	243.0	239.0	240.0		1011,1077	-5.8	1.0	10	dbSNP_134	240	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	ANXA7	NM_001156.3,NM_004034.2	,	0,4,6499	AA,AG,GG		0.0233,0.0454,0.0308	,	337/467,359/489	75139867	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	310						calcium ion binding|calcium-dependent phospholipid binding|calcium-dependent protein binding	g.chr10:75139867G>A	J04543	CCDS7325.1, CCDS7326.1	10q22.2	2005-11-09			ENSG00000138279	ENSG00000138279		"""Annexins"""	545	protein-coding gene	gene with protein product		186360		ANX7		7515686	Standard	NM_001156		Approved		uc001jtz.2	P20073	OTTHUMG00000018463	ENST00000372921.5:c.1011C>T	10.37:g.75139867G>A						ANXA7_ENST00000535178.1_Silent_p.T207T	p.T337T	NM_001156.3	NP_001147.1	P20073	ANXA7_HUMAN			10	1067	-	Prostate(51;0.0119)		359					Q5F2H3|Q5T0M6|Q5T0M7	Silent	SNP	ENST00000372921.5	37	c.1011C>T	CCDS7325.1																																																																																				0.458	ANXA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048646.2	NM_001156		52	434	0	0	0	1	0	52	434				
PCDHB17	54661	broad.mit.edu	37	5	140537079	140537079	+	Silent	SNP	C	C	T			TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr5:140537079C>T	ENST00000539533.1	+	1	1503	c.1503C>T	c.(1501-1503)ctC>ctT	p.L501L						protocadherin beta 17 pseudogene																		ACCTGCCCCTCGCCTCCCTGG	0.652																																						ENST00000539533.1																			0											c.(1501-1503)ctC>ctT																																						SO:0001819	synonymous_variant	0							g.chr5:140537079C>T	AF152527		5q31	2010-01-26				ENSG00000255622		"""Cadherins / Protocadherins : Clustered"""	14547	pseudogene	pseudogene						10380929	Standard	NR_001280		Approved	PCDH-psi1	uc003lis.3			ENST00000539533.1:c.1503C>T	5.37:g.140537079C>T							p.L501L							1	1503	+									Silent	SNP	ENST00000539533.1	37	c.1503C>T																																																																																					0.652	PCDHB17-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				96	266	0	0	0	1	0	96	266				
ZNF165	7718	broad.mit.edu	37	6	28057219	28057219	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr6:28057219A>C	ENST00000377325.1	+	4	1985	c.1429A>C	c.(1429-1431)Att>Ctt	p.I477L	ZSCAN12P1_ENST00000529104.1_RNA	NM_003447.3	NP_003438.1	P49910	ZN165_HUMAN	zinc finger protein 165	477					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						ACACCAGAGAATTCACATGAG	0.333																																						ENST00000377325.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1429-1431)Att>Ctt		zinc finger protein 165							52.0	56.0	55.0					6																	28057219		2203	4300	6503	SO:0001583	missense	7718				viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28057219A>C	U78722	CCDS4643.1	6p21	2013-01-09			ENSG00000197279	ENSG00000197279		"""-"", ""Zinc fingers, C2H2-type"""	12953	protein-coding gene	gene with protein product	"""cancer/testis antigen 53"""	600834				7490084	Standard	NM_003447		Approved	ZSCAN7, CT53	uc021yro.1	P49910	OTTHUMG00000014505	ENST00000377325.1:c.1429A>C	6.37:g.28057219A>C	ENSP00000366542:p.Ile477Leu						p.I477L	NM_003447.3	NP_003438.1	P49910	ZN165_HUMAN			4	1985	+			477						Missense_Mutation	SNP	ENST00000377325.1	37	c.1429A>C	CCDS4643.1	.	.	.	.	.	.	.	.	.	.	A	14.24	2.475881	0.44044	.	.	ENSG00000197279	ENST00000377325	T	0.04502	3.61	2.61	2.61	0.31194	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02083	0.0065	L	0.32530	0.975	0.26015	N	0.981931	P	0.51791	0.948	P	0.44623	0.455	T	0.47824	-0.9087	9	0.51188	T	0.08	.	9.8275	0.40921	1.0:0.0:0.0:0.0	.	477	P49910	ZN165_HUMAN	L	477	ENSP00000366542:I477L	ENSP00000366542:I477L	I	+	1	0	ZNF165	28165198	0.164000	0.22935	1.000000	0.80357	0.974000	0.67602	3.164000	0.50770	1.218000	0.43458	0.477000	0.44152	ATT		0.333	ZNF165-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040173.1	NM_003447		30	67	0	0	0	1	0	30	67				
POM121L9P	29774	broad.mit.edu	37	22	24659741	24659741	+	RNA	SNP	G	G	A			TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr22:24659741G>A	ENST00000414583.2	+	0	3266					NR_003714.1				POM121 transmembrane nucleoporin-like 9, pseudogene																		CTGTGGGAGGGGGGAATGTTC	0.622																																						ENST00000414583.2																			0																																																			0							g.chr22:24659741G>A	AL040062, AL117401		22q11.22	2012-03-13	2012-03-13		ENSG00000128262	ENSG00000128262			30080	pseudogene	pseudogene			"""POM121 membrane glycoprotein-like 9, pseudogene"""				Standard	NR_003714		Approved				OTTHUMG00000150763		22.37:g.24659741G>A								NR_003714.1						0	3266	+									RNA	SNP	ENST00000414583.2	37																																																																																						0.622	POM121L9P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000319991.1	NM_014549		3	35	0	0	0	1	0	3	35				
RAPH1	65059	broad.mit.edu	37	2	204305685	204305685	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr2:204305685G>A	ENST00000319170.5	-	14	2527	c.2228C>T	c.(2227-2229)cCg>cTg	p.P743L	RAPH1_ENST00000457812.1_Intron|ABI2_ENST00000295851.5_3'UTR|RAPH1_ENST00000374493.3_Missense_Mutation_p.P795L	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	743					axon extension (GO:0048675)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TGGAGGAGGCGGGGCACTGAA	0.642																																						ENST00000319170.5																			0				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(2227-2229)cCg>cTg		Ras association (RalGDS/AF-6) and pleckstrin homology domains 1							39.0	51.0	47.0					2																	204305685		2128	4174	6302	SO:0001583	missense	65059				cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane		g.chr2:204305685G>A	AJ584699	CCDS2359.1, CCDS2360.1	2q33	2013-01-10	2003-11-25	2003-11-26	ENSG00000173166	ENSG00000173166		"""Pleckstrin homology (PH) domain containing"""	14436	protein-coding gene	gene with protein product	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 18"""	609035	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 9"""	ALS2CR9, ALS2CR18			Standard	NM_203365		Approved	KIAA1681	uc002vad.3	Q70E73	OTTHUMG00000132876	ENST00000319170.5:c.2228C>T	2.37:g.204305685G>A	ENSP00000316543:p.Pro743Leu					RAPH1_ENST00000457812.1_Intron|RAPH1_ENST00000374493.3_Missense_Mutation_p.P795L	p.P743L	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN			14	2527	-			743					Q96Q37|Q9C0I2	Missense_Mutation	SNP	ENST00000319170.5	37	c.2228C>T	CCDS2359.1	.	.	.	.	.	.	.	.	.	.	G	11.97	1.796259	0.31777	.	.	ENSG00000173166	ENST00000319170;ENST00000374493	T;T	0.46451	0.88;0.87	1.65	0.633	0.17712	.	.	.	.	.	T	0.24005	0.0581	N	0.24115	0.695	0.80722	D	1	B	0.26120	0.142	B	0.14578	0.011	T	0.05869	-1.0859	9	0.66056	D	0.02	.	5.8401	0.18629	0.0:0.0:0.4153:0.5847	.	743	Q70E73	RAPH1_HUMAN	L	743;795	ENSP00000316543:P743L;ENSP00000363617:P795L	ENSP00000316543:P743L	P	-	2	0	RAPH1	204013930	0.998000	0.40836	0.907000	0.35723	0.752000	0.42762	3.494000	0.53273	0.193000	0.20303	0.305000	0.20034	CCG		0.642	RAPH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256363.2	NM_025252		23	199	0	0	0	1	0	23	199				
SP100	6672	broad.mit.edu	37	2	231368925	231368925	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr2:231368925A>G	ENST00000264052.5	+	21	2145	c.1790A>G	c.(1789-1791)aAt>aGt	p.N597S	SP100_ENST00000340126.4_Missense_Mutation_p.N597S|RN7SL834P_ENST00000461450.2_RNA|SP100_ENST00000409112.1_Missense_Mutation_p.N597S	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	597	SAND. {ECO:0000255|PROSITE- ProRule:PRU00185}.				cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cellular component movement (GO:0051271)|negative regulation of DNA binding (GO:0043392)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of Fas signaling pathway (GO:1902044)|response to cytokine (GO:0034097)|response to interferon-gamma (GO:0034341)|response to retinoic acid (GO:0032526)|response to type I interferon (GO:0034340)|retinoic acid receptor signaling pathway (GO:0048384)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		AAAGATGAAAATATTAATTTT	0.408																																						ENST00000264052.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25						c.(1789-1791)aAt>aGt		SP100 nuclear antigen							111.0	119.0	117.0					2																	231368925		2203	4300	6503	SO:0001583	missense	6672				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding	g.chr2:231368925A>G	AF056322	CCDS2477.1, CCDS42832.1, CCDS56170.1, CCDS56171.1, CCDS56172.1, CCDS56173.1	2q37.1	2013-01-28	2005-11-30		ENSG00000067066	ENSG00000067066		"""Zinc fingers, PHD-type"""	11206	protein-coding gene	gene with protein product		604585	"""nuclear antigen Sp100"""			2258622, 8695863	Standard	NM_001080391		Approved		uc002vqu.1	P23497	OTTHUMG00000133203	ENST00000264052.5:c.1790A>G	2.37:g.231368925A>G	ENSP00000264052:p.Asn597Ser					SP100_ENST00000340126.4_Missense_Mutation_p.N597S|SP100_ENST00000409112.1_Missense_Mutation_p.N597S	p.N597S	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)	21	2145	+		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)	597			SAND.		B4DDX5|B8ZZD8|E7EUA7|E9PH61|F8WFE2|O75450|Q13343|Q8TE34|Q96F70|Q96T24|Q96T95|Q9NP33|Q9UE32	Missense_Mutation	SNP	ENST00000264052.5	37	c.1790A>G	CCDS2477.1	.	.	.	.	.	.	.	.	.	.	A	10.38	1.335511	0.24253	.	.	ENSG00000067066	ENST00000264052;ENST00000409112;ENST00000340126;ENST00000414648	T;T;T	0.71341	-0.56;-0.56;-0.56	4.54	0.62	0.17637	SAND domain-like (2);SAND domain (2);	1.185050	0.06571	N	0.748647	T	0.51500	0.1678	N	0.19112	0.55	0.09310	N	1	P;P;P	0.38551	0.551;0.636;0.606	B;B;B	0.40602	0.189;0.334;0.287	T	0.38972	-0.9636	10	0.18276	T	0.48	.	1.5401	0.02554	0.5509:0.18:0.0961:0.1731	.	597;597;597	P23497-4;P23497;E7EUA7	.;SP100_HUMAN;.	S	597;597;597;80	ENSP00000264052:N597S;ENSP00000386427:N597S;ENSP00000343023:N597S	ENSP00000264052:N597S	N	+	2	0	SP100	231077169	0.000000	0.05858	0.001000	0.08648	0.033000	0.12548	-0.310000	0.08135	0.103000	0.17682	-0.290000	0.09829	AAT		0.408	SP100-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256914.2	NM_003113		5	139	0	0	0	1	0	5	139				
CNTN1	1272	broad.mit.edu	37	12	41316217	41316217	+	Silent	SNP	C	C	A			TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr12:41316217C>A	ENST00000551295.2	+	5	504	c.387C>A	c.(385-387)acC>acA	p.T129T	CNTN1_ENST00000360099.3_Silent_p.T129T|CNTN1_ENST00000348761.2_Silent_p.T118T|CNTN1_ENST00000547849.1_Silent_p.T129T|CNTN1_ENST00000347616.1_Silent_p.T129T|CNTN1_ENST00000547702.1_Silent_p.T129T	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	129	Ig-like C2-type 1.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				CTGAAGCAACCCTGAGCTTTG	0.398																																						ENST00000551295.2																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90						c.(385-387)acC>acA		contactin 1							107.0	96.0	100.0					12																	41316217		2203	4300	6503	SO:0001819	synonymous_variant	1272				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane		g.chr12:41316217C>A	Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"", ""Endogenous ligands"""	2171	protein-coding gene	gene with protein product	"""glycoprotein gP135"""	600016				7959734, 8586965	Standard	NM_001843		Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.387C>A	12.37:g.41316217C>A						CNTN1_ENST00000547849.1_Silent_p.T129T|CNTN1_ENST00000348761.2_Silent_p.T118T|CNTN1_ENST00000547702.1_Silent_p.T129T|CNTN1_ENST00000360099.3_Silent_p.T129T|CNTN1_ENST00000347616.1_Silent_p.T129T	p.T129T	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN			5	504	+	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)	129			Ig-like C2-type 1.		A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Silent	SNP	ENST00000551295.2	37	c.387C>A	CCDS8737.1																																																																																				0.398	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403692.2	NM_001843		4	87	1	0	0.184627	1	0.18832	4	87				
PCED1B	91523	broad.mit.edu	37	12	47472525	47472525	+	5'Flank	SNP	C	C	T	rs147425809		TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr12:47472525C>T	ENST00000546455.1	+	0	0				AMIGO2_ENST00000321382.3_Nonsense_Mutation_p.W87*|AMIGO2_ENST00000266581.4_Nonsense_Mutation_p.W87*|AMIGO2_ENST00000429635.1_Nonsense_Mutation_p.W87*|AMIGO2_ENST00000550413.1_Nonsense_Mutation_p.W87*			Q96HM7	PED1B_HUMAN	PC-esterase domain containing 1B								hydrolase activity (GO:0016787)										ATACTGGAATCCACTCAGAAT	0.438																																						ENST00000266581.4																			0				endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(259-261)tgG>tgA		adhesion molecule with Ig-like domain 2							103.0	102.0	103.0					12																	47472525		2203	4300	6503	SO:0001631	upstream_gene_variant	347902				heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane		g.chr12:47472525C>T	BC016154	CCDS8752.1	12q13.11	2012-06-11	2012-06-11	2012-06-11	ENSG00000179715	ENSG00000179715			28255	protein-coding gene	gene with protein product			"""family with sequence similarity 113, member B"""	FAM113B		20056006	Standard	NM_138371		Approved	MGC16044	uc001rpq.3	Q96HM7	OTTHUMG00000169617		12.37:g.47472525C>T	Exception_encountered					AMIGO2_ENST00000321382.3_Nonsense_Mutation_p.W87*|AMIGO2_ENST00000429635.1_Nonsense_Mutation_p.W87*|AMIGO2_ENST00000550413.1_Nonsense_Mutation_p.W87*	p.W87*	NM_181847.4	NP_862830.1	Q86SJ2	AMGO2_HUMAN			2	727	-	Renal(347;0.138)|Lung SC(27;0.192)		87					Q96B20	Nonsense_Mutation	SNP	ENST00000546455.1	37	c.261G>A	CCDS8752.1	.	.	.	.	.	.	.	.	.	.	C	40	8.053436	0.98629	.	.	ENSG00000139211	ENST00000266581;ENST00000550413;ENST00000429635;ENST00000321382	.	.	.	4.6	4.6	0.57074	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-9.7626	17.3036	0.87189	0.0:1.0:0.0:0.0	.	.	.	.	X	87	.	ENSP00000266581:W87X	W	-	3	0	AMIGO2	45758792	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	7.713000	0.84693	2.499000	0.84300	0.655000	0.94253	TGG		0.438	PCED1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405079.1	NM_138371		33	137	0	0	0	1	0	33	137				
BTBD10	84280	broad.mit.edu	37	11	13443342	13443342	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr11:13443342T>C	ENST00000278174.5	-	3	390	c.145A>G	c.(145-147)Atg>Gtg	p.M49V	BTBD10_ENST00000528120.1_Start_Codon_SNP_p.M1V|BTBD10_ENST00000530907.1_Missense_Mutation_p.M57V|BTBD10_ENST00000532261.1_5'UTR	NM_032320.5	NP_115696.2	Q9BSF8	BTBDA_HUMAN	BTB (POZ) domain containing 10	49						nucleus (GO:0005634)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|prostate(1)	20				Epithelial(150;0.0214)		TGTAGACTCATTTTGGTGTGG	0.408																																						ENST00000278174.5																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|prostate(1)	20						c.(145-147)Atg>Gtg		BTB (POZ) domain containing 10							101.0	88.0	92.0					11																	13443342		2200	4294	6494	SO:0001583	missense	84280					nucleus		g.chr11:13443342T>C	AY221959	CCDS7811.1, CCDS73261.1	11p15.2	2013-01-24			ENSG00000148925	ENSG00000148925		"""BTB/POZ domain containing"""	21445	protein-coding gene	gene with protein product		615933				15556295	Standard	XM_005253164		Approved	GMRP1, GMRP-1, MGC13007	uc001mkz.3	Q9BSF8	OTTHUMG00000165787	ENST00000278174.5:c.145A>G	11.37:g.13443342T>C	ENSP00000278174:p.Met49Val					BTBD10_ENST00000530907.1_Missense_Mutation_p.M57V|BTBD10_ENST00000532261.1_5'UTR|BTBD10_ENST00000528120.1_Start_Codon_SNP_p.M1V	p.M49V	NM_032320.5	NP_115696.2	Q9BSF8	BTBDA_HUMAN		Epithelial(150;0.0214)	3	390	-			49					B7Z228|Q86WG1	Missense_Mutation	SNP	ENST00000278174.5	37	c.145A>G	CCDS7811.1	.	.	.	.	.	.	.	.	.	.	T	23.7	4.451759	0.84209	.	.	ENSG00000148925	ENST00000278174;ENST00000530907;ENST00000528120;ENST00000529708;ENST00000526841	T;T;T	0.32753	1.44;1.45;1.52	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.24736	0.0600	L	0.48642	1.525	0.80722	D	1	P;B;B;B	0.41450	0.75;0.368;0.091;0.223	B;B;B;B	0.33960	0.173;0.113;0.046;0.078	T	0.04723	-1.0931	10	0.21540	T	0.41	-36.5988	14.7298	0.69372	0.0:0.0:0.0:1.0	.	18;57;49;49	B7Z2J1;B7Z228;D3DQW7;Q9BSF8	.;.;.;BTBDA_HUMAN	V	49;57;1;49;49	ENSP00000278174:M49V;ENSP00000431186:M57V;ENSP00000435257:M1V	ENSP00000278174:M49V	M	-	1	0	BTBD10	13399918	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.978000	0.76147	2.154000	0.67381	0.533000	0.62120	ATG		0.408	BTBD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386200.1	NM_032320		12	68	0	0	0	1	0	12	68				
FKBP15	23307	broad.mit.edu	37	9	115962194	115962194	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr9:115962194G>C	ENST00000238256.3	-	7	665	c.548C>G	c.(547-549)tCc>tGc	p.S183C		NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	183					endocytosis (GO:0006897)|negative regulation of phosphatase activity (GO:0010923)|protein folding (GO:0006457)	actin filament (GO:0005884)|axon (GO:0030424)|endosome (GO:0005768)|growth cone (GO:0030426)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						GAGGTCCTGGGAGAGCACTGC	0.488																																						ENST00000238256.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						c.(547-549)tCc>tGc		FK506 binding protein 15, 133kDa							55.0	54.0	55.0					9																	115962194		2016	4189	6205	SO:0001583	missense	23307				endocytosis|protein folding	axon|early endosome	actin binding	g.chr9:115962194G>C	AB014574	CCDS48007.1	9q33.1	2014-05-09	2006-10-31	2006-10-31	ENSG00000119321	ENSG00000119321		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	23397	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 76"", ""WASP and FKBP-like protein"""		"""KIAA0674"""	KIAA0674		16756961, 20376207	Standard	NM_015258		Approved	PPP1R76, FKBP133, WAFL	uc004bgs.2	Q5T1M5	OTTHUMG00000020518	ENST00000238256.3:c.548C>G	9.37:g.115962194G>C	ENSP00000238256:p.Ser183Cys						p.S183C	NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN			7	665	-			183					Q05DK8|Q5T1M2|Q6DD85|Q9Y4D0	Missense_Mutation	SNP	ENST00000238256.3	37	c.548C>G	CCDS48007.1	.	.	.	.	.	.	.	.	.	.	G	11.24	1.581732	0.28180	.	.	ENSG00000119321	ENST00000446284;ENST00000238256;ENST00000414250	T;T;T	0.42900	0.96;0.96;0.96	5.95	0.634	0.17718	.	.	.	.	.	T	0.25865	0.0630	L	0.31371	0.925	0.09310	N	1	B;B;B	0.11235	0.003;0.004;0.004	B;B;B	0.09377	0.004;0.004;0.003	T	0.18650	-1.0330	9	0.36615	T	0.2	-1.1946	3.8371	0.08899	0.146:0.3626:0.3737:0.1177	.	183;183;183	Q5T1M5-2;Q5T1M5-3;Q5T1M5	.;.;FKB15_HUMAN	C	208;183;208	ENSP00000416158:S208C;ENSP00000238256:S183C;ENSP00000415733:S208C	ENSP00000238256:S183C	S	-	2	0	FKBP15	115002015	0.003000	0.15002	0.111000	0.21465	0.995000	0.86356	0.528000	0.23002	0.392000	0.25172	0.655000	0.94253	TCC		0.488	FKBP15-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_015258		12	34	0	0	0	1	0	12	34				
UTP23	84294	broad.mit.edu	37	8	117783946	117783946	+	Silent	SNP	T	T	A			TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr8:117783946T>A	ENST00000309822.2	+	3	716	c.615T>A	c.(613-615)ctT>ctA	p.L205L	UTP23_ENST00000517820.1_Intron|UTP23_ENST00000520733.1_Intron|UTP23_ENST00000357148.3_Intron	NM_032334.2	NP_115710.2	Q9BRU9	UTP23_HUMAN	UTP23, small subunit (SSU) processome component, homolog (yeast)	205					rRNA processing (GO:0006364)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	12						CCAATCCTCTTAGTTGTTTGA	0.358																																						ENST00000309822.2																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	12						c.(613-615)ctT>ctA		UTP23, small subunit (SSU) processome component, homolog (yeast)							47.0	49.0	48.0					8																	117783946		2203	4300	6503	SO:0001819	synonymous_variant	84294				rRNA processing	nucleolus		g.chr8:117783946T>A		CCDS6320.1	8q24.11	2008-06-12	2008-06-12	2008-06-12		ENSG00000147679			28224	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 53"""	C8orf53		16769905	Standard	NM_032334		Approved	MGC14595	uc003yoc.3	Q9BRU9		ENST00000309822.2:c.615T>A	8.37:g.117783946T>A						UTP23_ENST00000517820.1_Intron|UTP23_ENST00000357148.3_Intron|UTP23_ENST00000520733.1_Intron	p.L205L	NM_032334.2	NP_115710.2	Q9BRU9	UTP23_HUMAN			3	716	+			205					B2RE25|Q96NJ8	Silent	SNP	ENST00000309822.2	37	c.615T>A	CCDS6320.1																																																																																				0.358	UTP23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381173.1	NM_032334		21	90	0	0	0	1	0	21	90				
MC5R	4161	broad.mit.edu	37	18	13826202	13826202	+	Silent	SNP	C	C	T			TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr18:13826202C>T	ENST00000324750.3	+	1	660	c.438C>T	c.(436-438)taC>taT	p.Y146Y	AP001525.1_ENST00000390194.2_RNA	NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	146					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hormone binding (GO:0042562)|melanocortin receptor activity (GO:0004977)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						CCATCTTCTACGCCCTGCGCT	0.557																																						ENST00000324750.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						c.(436-438)taC>taT		melanocortin 5 receptor							150.0	132.0	138.0					18																	13826202		2203	4300	6503	SO:0001819	synonymous_variant	4161				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding	g.chr18:13826202C>T	AY268429	CCDS11868.1	18p11.2	2012-08-10			ENSG00000176136	ENSG00000176136		"""GPCR / Class A : Melanocortin receptors"""	6933	protein-coding gene	gene with protein product		600042				8396929	Standard	NM_005913		Approved		uc010xaf.2	P33032	OTTHUMG00000131720	ENST00000324750.3:c.438C>T	18.37:g.13826202C>T							p.Y146Y	NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN			1	660	+			146					B0YJ34|Q502V1	Silent	SNP	ENST00000324750.3	37	c.438C>T	CCDS11868.1																																																																																				0.557	MC5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254638.1	NM_005913		10	276	0	0	0	1	0	10	276				
EBF4	57593	broad.mit.edu	37	20	2688616	2688616	+	Silent	SNP	C	C	T			TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr20:2688616C>T	ENST00000609451.1	+	5	510	c.438C>T	c.(436-438)gaC>gaT	p.D146D	EBF4_ENST00000380648.4_Silent_p.D142D			Q9BQW3	COE4_HUMAN	early B-cell factor 4	146					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										AGGGGCAGGACAAGAACCCCG	0.607																																						ENST00000380648.4																			0											c.(424-426)gaC>gaT		early B-cell factor 4							126.0	115.0	118.0					20																	2688616		692	1591	2283	SO:0001819	synonymous_variant	57593				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding	g.chr20:2688616C>T	BC019106	CCDS46573.1	20p13	2008-10-23			ENSG00000088881	ENSG00000088881			29278	protein-coding gene	gene with protein product		609935				10718198	Standard	NM_001110514		Approved	KIAA1442, COE4, RP5-860F19.3, O/E-4	uc002wgt.4	Q9BQW3	OTTHUMG00000031709	ENST00000609451.1:c.438C>T	20.37:g.2688616C>T						EBF4_ENST00000342725.4_Silent_p.D146D	p.D142D	NM_001110514.1	NP_001103984.1	Q9BQW3	COE4_HUMAN			6	694	+			146					Q1MTP7|Q5JY53|Q9NUB6|Q9P2A6	Silent	SNP	ENST00000609451.1	37	c.426C>T																																																																																					0.607	EBF4-011	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000471930.1	XM_938882		7	17	0	0	0	1	0	7	17				
NDUFA6-AS1	100132273	broad.mit.edu	37	22	42537218	42537218	+	RNA	SNP	T	T	C	rs2856959		TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr22:42537218T>C	ENST00000416037.2	+	0	8970				CYP2D7P1_ENST00000433992.1_RNA|CYP2D7P1_ENST00000424775.1_RNA|RP4-669P10.16_ENST00000428786.1_RNA|CYP2D7P1_ENST00000358097.4_RNA	NR_034118.1				NDUFA6 antisense RNA 1 (head to head)																		TGGGTCACACTCAGGGGGATG	0.617																																						ENST00000435101.1																			0				endometrium(1)	1																																														0							g.chr22:42537218T>C	BC039542		22q13.2	2013-03-18	2013-03-18		ENSG00000237037	ENSG00000237037		"""Long non-coding RNAs"""	45273	non-coding RNA	RNA, long non-coding							Standard	NR_034118		Approved		uc003bcd.1		OTTHUMG00000150917		22.37:g.42537218T>C						CYP2D7P1_ENST00000358097.4_RNA|CYP2D7P1_ENST00000433992.1_RNA								0	239	-									RNA	SNP	ENST00000416037.2	37			564	0.25824175824175827	71	0.1443089430894309	111	0.30662983425414364	256	0.44755244755244755	126	0.1662269129287599	N	1.081	-0.666963	0.03428	.	.	ENSG00000205702	ENST00000435101;ENST00000428297;ENST00000354609;ENST00000381321;ENST00000436260	T	0.68331	-0.32	3.91	-2.23	0.06930	.	0.309371	0.32231	N	0.006393	T	0.00012	0.0000	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.28202	-1.0051	9	0.12430	T	0.62	.	6.2488	0.20833	0.0:0.49:0.1203:0.3897	rs34682027;rs57164905;rs62239773	283	F5H167	.	G	27;372;321;319;283	ENSP00000437680:S27G	ENSP00000442416:S321G	S	-	1	0	CYP2D7P1	40867162	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.303000	0.08210	-0.892000	0.03935	-1.952000	0.00485	AGT		0.617	NDUFA6-AS1-001	KNOWN	basic|exp_conf	antisense	processed_transcript	OTTHUMT00000320522.4	NR_034118		5	23	0	0	0	1	0	5	23				
PCDHB6	56130	broad.mit.edu	37	5	140531282	140531282	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr5:140531282G>A	ENST00000231136.1	+	1	1444	c.1444G>A	c.(1444-1446)Gcc>Acc	p.A482T	PCDHB6_ENST00000543635.1_Missense_Mutation_p.A346T	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	482	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGCATCAACGCCCAGGTCAC	0.642																																						ENST00000231136.1																			0				cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84						c.(1444-1446)Gcc>Acc									104.0	113.0	110.0					5																	140531282		2203	4300	6503	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140531282G>A	AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"""Cadherins / Protocadherins : Clustered"""	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.1444G>A	5.37:g.140531282G>A	ENSP00000231136:p.Ala482Thr					PCDHB6_ENST00000543635.1_Missense_Mutation_p.A346T	p.A482T	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1444	+			482			Cadherin 5.		B2R8R9	Missense_Mutation	SNP	ENST00000231136.1	37	c.1444G>A	CCDS4248.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.871566	0.91587	.	.	ENSG00000113211	ENST00000543635;ENST00000231136;ENST00000542861	T;T	0.52295	0.67;0.67	4.27	4.27	0.50696	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.73666	0.3616	M	0.90814	3.15	0.42575	D	0.993193	D	0.76494	0.999	D	0.68353	0.957	T	0.82086	-0.0631	9	0.87932	D	0	.	17.1391	0.86748	0.0:0.0:1.0:0.0	.	482	Q9Y5E3	PCDB6_HUMAN	T	346;482;267	ENSP00000438466:A346T;ENSP00000231136:A482T	ENSP00000231136:A482T	A	+	1	0	PCDHB6	140511466	0.979000	0.34478	1.000000	0.80357	0.944000	0.59088	5.595000	0.67563	2.095000	0.63458	0.556000	0.70494	GCC		0.642	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	NM_018939		14	529	0	0	0	1	0	14	529				
FOXP2	93986	broad.mit.edu	37	7	114299484	114299484	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr7:114299484G>C	ENST00000393494.2	+	12	1821	c.1542G>C	c.(1540-1542)agG>agC	p.R514S	FOXP2_ENST00000393489.3_Missense_Mutation_p.R422S|FOXP2_ENST00000393498.2_Missense_Mutation_p.R493S|FOXP2_ENST00000350908.4_Missense_Mutation_p.R514S|FOXP2_ENST00000403559.4_Missense_Mutation_p.R531S|FOXP2_ENST00000408937.3_Missense_Mutation_p.R539S|FOXP2_ENST00000393500.3_3'UTR|FOXP2_ENST00000393491.3_Intron			O15409	FOXP2_HUMAN	forkhead box P2	514					camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						CTCTCATAAGGCAGGTAAGTA	0.303																																						ENST00000408937.3																			0				breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						c.(1615-1617)agG>agC		forkhead box P2							66.0	71.0	70.0					7																	114299484		2202	4299	6501	SO:0001583	missense	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr7:114299484G>C	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"""Forkhead boxes"""	13875	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 10"", ""forkhead/winged-helix transcription factor"", ""speech and language disorder 1"", ""CAG repeat protein 44"""	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.1542G>C	7.37:g.114299484G>C	ENSP00000377132:p.Arg514Ser					FOXP2_ENST00000393494.2_Missense_Mutation_p.R514S|FOXP2_ENST00000393489.3_Missense_Mutation_p.R422S|FOXP2_ENST00000393500.3_3'UTR|FOXP2_ENST00000350908.4_Missense_Mutation_p.R514S|FOXP2_ENST00000393498.2_Missense_Mutation_p.R493S|FOXP2_ENST00000393491.3_Intron|FOXP2_ENST00000403559.4_Missense_Mutation_p.R531S	p.R539S	NM_001172766.2|NM_014491.3|NM_148898.3	NP_001166237.1|NP_055306.1|NP_683696.2	O15409	FOXP2_HUMAN			13	1991	+			514					A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Missense_Mutation	SNP	ENST00000393494.2	37	c.1617G>C	CCDS5760.1	.	.	.	.	.	.	.	.	.	.	G	17.90	3.502492	0.64298	.	.	ENSG00000128573	ENST00000393494;ENST00000408937;ENST00000403559;ENST00000350908;ENST00000393498;ENST00000393489	D;D;D;D;D	0.95238	-3.65;-3.65;-3.65;-3.65;-3.65	5.96	5.96	0.96718	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);	0.000000	0.85682	D	0.000000	D	0.96222	0.8768	L	0.45285	1.41	0.80722	D	1	D;D;D;D	0.59357	0.985;0.985;0.985;0.981	D;D;D;D	0.69824	0.966;0.966;0.966;0.962	D	0.96266	0.9195	10	0.87932	D	0	.	20.4043	0.99006	0.0:0.0:1.0:0.0	.	513;531;514;539	B7ZLK5;B4DLD9;O15409;O15409-4	.;.;FOXP2_HUMAN;.	S	514;539;531;514;491;422	ENSP00000377132:R514S;ENSP00000386200:R539S;ENSP00000385069:R531S;ENSP00000265436:R514S;ENSP00000377129:R422S	ENSP00000265436:R514S	R	+	3	2	FOXP2	114086720	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.450000	0.73477	2.823000	0.97156	0.650000	0.86243	AGG		0.303	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		27	98	0	0	0	1	0	27	98				
GNA13	10672	broad.mit.edu	37	17	63049844	63049844	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr17:63049844T>C	ENST00000439174.2	-	2	531	c.286A>G	c.(286-288)Atg>Gtg	p.M96V	GNA13_ENST00000541118.1_Start_Codon_SNP_p.M1V|RP11-583F2.5_ENST00000581796.1_RNA	NM_006572.4	NP_006563.2	Q14344	GNA13_HUMAN	guanine nucleotide binding protein (G protein), alpha 13	96					activation of phospholipase D activity (GO:0031584)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|in utero embryonic development (GO:0001701)|patterning of blood vessels (GO:0001569)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of cell migration (GO:0030334)|regulation of cell shape (GO:0008360)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)	brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|heterotrimeric G-protein complex (GO:0005834)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	D5 dopamine receptor binding (GO:0031752)|G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 1 angiotensin receptor binding (GO:0031702)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(14)|kidney(2)|large_intestine(4)|lung(6)|urinary_tract(1)	34						AGCACCCTCATACCTTTGTTT	0.363																																						ENST00000439174.2																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(14)|kidney(2)|large_intestine(4)|lung(6)|urinary_tract(1)	34						c.(286-288)Atg>Gtg		guanine nucleotide binding protein (G protein), alpha 13							104.0	105.0	104.0					17																	63049844		2203	4300	6503	SO:0001583	missense	10672				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase D activity|cellular component movement|platelet activation|Rho protein signal transduction	brush border membrane|heterotrimeric G-protein complex|melanosome	D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity|type 1 angiotensin receptor binding	g.chr17:63049844T>C	L22075	CCDS11661.1, CCDS62302.1	17q24.1	2014-09-04			ENSG00000120063	ENSG00000120063			4381	protein-coding gene	gene with protein product		604406				7791744	Standard	NM_006572		Approved	G13, MGC46138	uc002jfc.3	Q14344	OTTHUMG00000179316	ENST00000439174.2:c.286A>G	17.37:g.63049844T>C	ENSP00000400717:p.Met96Val					GNA13_ENST00000541118.1_Start_Codon_SNP_p.M1V	p.M96V	NM_006572.4	NP_006563.2	Q14344	GNA13_HUMAN			2	531	-			96					B2R977|B7Z7R0|F5H1G8|Q8TD70	Missense_Mutation	SNP	ENST00000439174.2	37	c.286A>G	CCDS11661.1	.	.	.	.	.	.	.	.	.	.	T	12.51	1.958969	0.34565	.	.	ENSG00000120063	ENST00000439174;ENST00000541118;ENST00000239138	D;D	0.88201	-2.35;-2.35	5.28	4.17	0.49024	G protein alpha subunit, helical insertion (2);	0.228496	0.46442	D	0.000290	T	0.80160	0.4572	L	0.35593	1.075	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.74569	-0.3622	10	0.41790	T	0.15	.	4.8813	0.13681	0.0:0.2202:0.0:0.7798	.	96	Q14344	GNA13_HUMAN	V	96;1;71	ENSP00000400717:M96V;ENSP00000439647:M1V	ENSP00000239138:M71V	M	-	1	0	GNA13	60480306	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.478000	0.45189	1.988000	0.58038	0.533000	0.62120	ATG		0.363	GNA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445720.1	NM_006572		26	104	0	0	0	1	0	26	104				
DBH	1621	broad.mit.edu	37	9	136508616	136508616	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr9:136508616G>A	ENST00000393056.2	+	4	838	c.826G>A	c.(826-828)Gtc>Atc	p.V276I		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	276					behavioral response to ethanol (GO:0048149)|blood vessel remodeling (GO:0001974)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cytokine production (GO:0001816)|dopamine catabolic process (GO:0042420)|fear response (GO:0042596)|glucose homeostasis (GO:0042593)|homoiothermy (GO:0042309)|leukocyte mediated immunity (GO:0002443)|leukocyte migration (GO:0050900)|locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|memory (GO:0007613)|norepinephrine biosynthetic process (GO:0042421)|positive regulation of vasoconstriction (GO:0045907)|regulation of cell proliferation (GO:0042127)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|response to amphetamine (GO:0001975)|response to pain (GO:0048265)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|secretory granule lumen (GO:0034774)	catalytic activity (GO:0003824)|copper ion binding (GO:0005507)|dopamine beta-monooxygenase activity (GO:0004500)|L-ascorbic acid binding (GO:0031418)	p.V276I(1)		central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Disulfiram(DB00822)|Dopamine(DB00988)|Propylthiouracil(DB00550)|Vitamin C(DB00126)	GATGGACAGCGTCCCCCACTT	0.657																																						ENST00000393056.2																			1	Substitution - Missense(1)	p.V276I(1)	pancreas(1)	central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.(826-828)Gtc>Atc		dopamine beta-hydroxylase (dopamine beta-monooxygenase)	Dopamine(DB00988)|Vitamin C(DB00126)						77.0	76.0	76.0					9																	136508616		2203	4300	6503	SO:0001583	missense	1621				hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding	g.chr9:136508616G>A	X13256	CCDS6977.2	9q34	2013-06-03			ENSG00000123454	ENSG00000123454	1.14.17.1		2689	protein-coding gene	gene with protein product		609312					Standard	NM_000787		Approved	DBM	uc004cel.3	P09172	OTTHUMG00000020878	ENST00000393056.2:c.826G>A	9.37:g.136508616G>A	ENSP00000376776:p.Val276Ile						p.V276I	NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	4	838	+			276					Q5T381|Q96AG2	Missense_Mutation	SNP	ENST00000393056.2	37	c.826G>A	CCDS6977.2	.	.	.	.	.	.	.	.	.	.	G	0.011	-1.699360	0.00725	.	.	ENSG00000123454	ENST00000393056;ENST00000371880;ENST00000263611	T;T	0.29917	1.55;1.55	4.9	-8.25	0.01025	Copper type II, ascorbate-dependent monooxygenase, N-terminal (2);PHM/PNGase F domain (1);	0.610624	0.17687	N	0.165404	T	0.07954	0.0199	N	0.04373	-0.215	0.19775	N	0.99995	B	0.06786	0.001	B	0.11329	0.006	T	0.25502	-1.0130	10	0.02654	T	1	-15.1191	7.9737	0.30143	0.4294:0.0:0.3685:0.2021	.	276	P09172	DOPO_HUMAN	I	276;213;213	ENSP00000376776:V276I;ENSP00000263611:V213I	ENSP00000263611:V213I	V	+	1	0	DBH	135498437	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-1.053000	0.03500	-1.933000	0.01052	-0.410000	0.06199	GTC		0.657	DBH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054929.2	NM_000787		36	141	0	0	0	1	0	36	141				
ANKS3	124401	broad.mit.edu	37	16	4780010	4780010	+	Silent	SNP	C	C	T	rs148767427		TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr16:4780010C>T	ENST00000304283.4	-	3	435	c.141G>A	c.(139-141)caG>caA	p.Q47Q	RP11-127I20.7_ENST00000588099.1_RNA|ANKS3_ENST00000450067.2_5'UTR|ANKS3_ENST00000592711.1_Silent_p.Q47Q|ANKS3_ENST00000446014.2_5'UTR|ANKS3_ENST00000585773.1_Intron	NM_133450.3	NP_597707.1	Q6ZW76	ANKS3_HUMAN	ankyrin repeat and sterile alpha motif domain containing 3	47										endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						CCACTTCATACTGGCCAATGG	0.577																																						ENST00000304283.4																			0				endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						c.(139-141)caG>caA		ankyrin repeat and sterile alpha motif domain containing 3		C	,	1,4393	2.1+/-5.4	0,1,2196	177.0	159.0	165.0		141,141	3.8	1.0	16	dbSNP_134	165	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	ANKS3	NM_001242929.1,NM_133450.3	,	0,1,6496	TT,TC,CC		0.0,0.0228,0.0077	,	47/550,47/657	4780010	1,12993	2197	4300	6497	SO:0001819	synonymous_variant	124401							g.chr16:4780010C>T	AK057329	CCDS10520.1, CCDS73820.1	16p13.3	2013-01-10			ENSG00000168096	ENSG00000168096		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	29422	protein-coding gene	gene with protein product						11853319	Standard	NM_133450		Approved	KIAA1977, FLJ32345, FLJ32767	uc002cxj.2	Q6ZW76	OTTHUMG00000129478	ENST00000304283.4:c.141G>A	16.37:g.4780010C>T						ANKS3_ENST00000592711.1_Silent_p.Q47Q|ANKS3_ENST00000585773.1_Intron|ANKS3_ENST00000450067.2_5'UTR|ANKS3_ENST00000446014.2_5'UTR	p.Q47Q	NM_133450.3	NP_597707.1	Q6ZW76	ANKS3_HUMAN			3	435	-			47					B4DWU4|D3DUE2|Q8TF25	Silent	SNP	ENST00000304283.4	37	c.141G>A	CCDS10520.1																																																																																				0.577	ANKS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251642.3	NM_133450		40	361	0	0	0	1	0	40	361				
SLC1A6	6511	broad.mit.edu	37	19	15073138	15073138	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr19:15073138G>A	ENST00000221742.3	-	5	618	c.611C>T	c.(610-612)aCg>aTg	p.T204M	SLC1A6_ENST00000430939.2_Missense_Mutation_p.T140M|SLC1A6_ENST00000600144.1_Missense_Mutation_p.T204M|SLC1A6_ENST00000544886.2_Missense_Mutation_p.T204M|SLC1A6_ENST00000598504.1_Missense_Mutation_p.T204M	NM_005071.1	NP_005062.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	204					aspartate transport (GO:0015810)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)	p.T204M(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						TACCACCCTCGTGCTGTACTG	0.532																																						ENST00000598504.1																			1	Substitution - Missense(1)	p.T204M(1)	prostate(1)	breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						c.(610-612)aCg>aTg		solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	L-Glutamic Acid(DB00142)						112.0	103.0	106.0					19																	15073138		2203	4300	6503	SO:0001583	missense	6511				synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr19:15073138G>A		CCDS12321.1, CCDS62578.1	19p13.12	2013-07-15			ENSG00000105143	ENSG00000105143		"""Solute carriers"""	10944	protein-coding gene	gene with protein product		600637				7791878	Standard	NM_005071		Approved	EAAT4	uc002naa.2	P48664	OTTHUMG00000183351	ENST00000221742.3:c.611C>T	19.37:g.15073138G>A	ENSP00000221742:p.Thr204Met					SLC1A6_ENST00000544886.2_Missense_Mutation_p.T204M|SLC1A6_ENST00000221742.3_Missense_Mutation_p.T204M|SLC1A6_ENST00000430939.2_Missense_Mutation_p.T140M|SLC1A6_ENST00000600144.1_Missense_Mutation_p.T204M	p.T204M	NM_001272087.1	NP_001259016.1	P48664	EAA4_HUMAN			8	1970	-			204					Q8N753	Missense_Mutation	SNP	ENST00000221742.3	37	c.611C>T	CCDS12321.1	.	.	.	.	.	.	.	.	.	.	g	15.97	2.989592	0.53934	.	.	ENSG00000105143	ENST00000430939;ENST00000221742;ENST00000544886	T;T;T	0.71698	-0.59;0.46;1.19	4.42	4.42	0.53409	.	0.157903	0.56097	D	0.000039	T	0.80665	0.4666	M	0.62723	1.935	0.45330	D	0.99832	D;D;P	0.76494	0.968;0.999;0.845	P;D;B	0.66716	0.49;0.946;0.34	T	0.82542	-0.0405	10	0.62326	D	0.03	-18.7563	14.6221	0.68594	0.0:0.0:1.0:0.0	.	140;204;204	E7EV13;Q8N753;P48664	.;.;EAA4_HUMAN	M	140;204;204	ENSP00000409386:T140M;ENSP00000221742:T204M;ENSP00000446175:T204M	ENSP00000221742:T204M	T	-	2	0	SLC1A6	14934138	1.000000	0.71417	0.994000	0.49952	0.756000	0.42949	4.482000	0.60257	2.310000	0.77875	0.454000	0.30748	ACG		0.532	SLC1A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466283.1	NM_005071		33	117	0	0	0	1	0	33	117				
DNAH1	25981	broad.mit.edu	37	3	52420237	52420237	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr3:52420237A>G	ENST00000420323.2	+	55	8948	c.8687A>G	c.(8686-8688)aAt>aGt	p.N2896S		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2896	Stalk. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ATCAAAGCCAATGAGAAGGCC	0.597																																						ENST00000420323.2																			0				cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.(8686-8688)aAt>aGt		dynein, axonemal, heavy chain 1							62.0	71.0	68.0					3																	52420237		2127	4239	6366	SO:0001583	missense	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52420237A>G	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.8687A>G	3.37:g.52420237A>G	ENSP00000401514:p.Asn2896Ser						p.N2896S	NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	55	8948	+			2896			Stalk (By similarity).		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	c.8687A>G	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	A	11.22	1.575848	0.28092	.	.	ENSG00000114841	ENST00000420323	T	0.73789	-0.78	4.68	4.68	0.58851	.	0.179848	0.35615	N	0.003093	T	0.56499	0.1989	N	0.21142	0.635	0.30488	N	0.771636	B	0.06786	0.001	B	0.15052	0.012	T	0.49447	-0.8939	10	0.10111	T	0.7	.	10.4504	0.44518	0.8367:0.1633:0.0:0.0	.	2896	C9JXH6	.	S	2896	ENSP00000401514:N2896S	ENSP00000401514:N2896S	N	+	2	0	DNAH1	52395277	0.995000	0.38212	0.990000	0.47175	0.974000	0.67602	3.446000	0.52928	1.955000	0.56771	0.460000	0.39030	AAT		0.597	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		9	54	0	0	0	1	0	9	54				
ACLY	47	broad.mit.edu	37	17	40025296	40025296	+	Splice_Site	SNP	C	C	A			TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr17:40025296C>A	ENST00000352035.2	-	27	3264	c.3134G>T	c.(3133-3135)cGg>cTg	p.R1045L	ACLY_ENST00000588779.1_5'UTR|ACLY_ENST00000590151.1_Splice_Site_p.R1045L|ACLY_ENST00000353196.1_Splice_Site_p.R1035L|ACLY_ENST00000393896.2_Splice_Site_p.R1035L|ACLY_ENST00000537919.1_Splice_Site_p.R774L	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	1045					ATP catabolic process (GO:0006200)|cellular carbohydrate metabolic process (GO:0044262)|cellular lipid metabolic process (GO:0044255)|citrate metabolic process (GO:0006101)|coenzyme A metabolic process (GO:0015936)|energy reserve metabolic process (GO:0006112)|lipid biosynthetic process (GO:0008610)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	citrate lyase complex (GO:0009346)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)	p.R1045L(1)	NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				CAATGCTCACCGAGTAAAGGA	0.358																																					Colon(64;807 1396 15971 30971)	ENST00000352035.2																		NTN1/ACLY(2)	1	Substitution - Missense(1)	p.R1045L(1)	lung(1)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.e27+1		ATP citrate lyase							175.0	174.0	174.0					17																	40025296		2203	4300	6503	SO:0001630	splice_region_variant	47				ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity	g.chr17:40025296C>A	X64330	CCDS11412.1, CCDS11413.1	17q21.2	2010-04-27			ENSG00000131473	ENSG00000131473	2.3.3.8		115	protein-coding gene	gene with protein product	"""ATP citrate synthase"""	108728				1371749, 8088842	Standard	NM_001096		Approved	ATPCL, CLATP, ACL	uc002hyg.3	P53396	OTTHUMG00000133507	ENST00000352035.2:c.3134+1G>T	17.37:g.40025296C>A						ACLY_ENST00000588779.1_5'UTR|ACLY_ENST00000590151.1_Splice_Site_p.R1045_splice|ACLY_ENST00000537919.1_Splice_Site_p.R774_splice|ACLY_ENST00000393896.2_Splice_Site_p.R1035_splice|ACLY_ENST00000353196.1_Splice_Site_p.R1035_splice	p.R1045_splice	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN			27	3264	-		Breast(137;0.000143)	1045					B4DIM0|B4E3P0|Q13037|Q9BRL0	Splice_Site	SNP	ENST00000352035.2	37	c.3134_splice	CCDS11412.1	.	.	.	.	.	.	.	.	.	.	c	20.2	3.957118	0.73902	.	.	ENSG00000131473	ENST00000352035;ENST00000401700;ENST00000353196;ENST00000537919;ENST00000393896	T;T;D;T	0.88664	-1.42;-1.42;-2.41;-1.42	5.9	5.9	0.94986	Citrate synthase-like, core (1);	0.000000	0.85682	D	0.000000	D	0.93187	0.7830	L	0.58969	1.84	0.80722	D	1	D;P;D;P;D	0.76494	0.999;0.954;0.978;0.757;0.999	D;P;P;P;D	0.85130	0.997;0.733;0.793;0.525;0.997	D	0.92077	0.5669	9	.	.	.	.	17.216	0.86944	0.0:0.8745:0.1255:0.0	.	774;1089;1099;1035;1045	B4E3P0;B4DIM0;E7ENH9;G3XAI4;P53396	.;.;.;.;ACLY_HUMAN	L	1045;1099;1035;774;1035	ENSP00000253792:R1045L;ENSP00000345398:R1035L;ENSP00000445349:R774L;ENSP00000377474:R1035L	.	R	-	2	0	ACLY	37278822	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	7.768000	0.85345	2.802000	0.96397	0.651000	0.88453	CGG		0.358	ACLY-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257465.1	NM_001096	Missense_Mutation	5	485	1	0	1	1	1	5	485				
PARS2	25973	broad.mit.edu	37	1	55224347	55224347	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr1:55224347G>A	ENST00000371279.3	-	2	570	c.488C>T	c.(487-489)aCg>aTg	p.T163M		NM_152268.3	NP_689481.2	Q7L3T8	SYPM_HUMAN	prolyl-tRNA synthetase 2, mitochondrial (putative)	163					gene expression (GO:0010467)|prolyl-tRNA aminoacylation (GO:0006433)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|proline-tRNA ligase activity (GO:0004827)			breast(1)|endometrium(3)|kidney(2)|lung(4)|ovary(2)|prostate(2)|skin(1)	15					L-Proline(DB00172)	AATTAAGGCCGTAATGGCTTC	0.532																																						ENST00000371279.3																			0				breast(1)|endometrium(3)|kidney(2)|lung(4)|ovary(2)|prostate(2)|skin(1)	15						c.(487-489)aCg>aTg		prolyl-tRNA synthetase 2, mitochondrial (putative)	L-Proline(DB00172)						206.0	202.0	203.0					1																	55224347		2203	4300	6503	SO:0001583	missense	25973				prolyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|proline-tRNA ligase activity	g.chr1:55224347G>A	AK025585	CCDS597.1	1p32.2	2011-07-01	2007-02-23		ENSG00000162396	ENSG00000162396	6.1.1.15	"""Aminoacyl tRNA synthetases / Class II"""	30563	protein-coding gene	gene with protein product	"""proline tRNA ligase 2, mitochondrial (putative)"""	612036				15779907	Standard	NM_152268		Approved	DKFZp727A071	uc001cxy.3	Q7L3T8	OTTHUMG00000009915	ENST00000371279.3:c.488C>T	1.37:g.55224347G>A	ENSP00000360327:p.Thr163Met						p.T163M	NM_152268.3	NP_689481.2	Q7L3T8	SYPM_HUMAN			2	570	-			163					A8K0W4|Q9H6S5|Q9UFT1	Missense_Mutation	SNP	ENST00000371279.3	37	c.488C>T	CCDS597.1	.	.	.	.	.	.	.	.	.	.	G	15.14	2.745048	0.49151	.	.	ENSG00000162396	ENST00000371279	T	0.69175	-0.38	4.99	4.99	0.66335	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (G/ H/ P/ S), conserved domain (1);	0.000000	0.85682	D	0.000000	D	0.88709	0.6510	H	0.97214	3.96	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.92996	0.6419	10	0.87932	D	0	-8.6958	18.3001	0.90160	0.0:0.0:1.0:0.0	.	163	Q7L3T8	SYPM_HUMAN	M	163	ENSP00000360327:T163M	ENSP00000360327:T163M	T	-	2	0	PARS2	54996935	1.000000	0.71417	0.728000	0.30774	0.253000	0.25986	9.588000	0.98232	2.310000	0.77875	0.563000	0.77884	ACG		0.532	PARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027436.1	NM_152268		5	388	0	0	0	1	0	5	388				
DNAH3	55567	broad.mit.edu	37	16	20952769	20952769	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr16:20952769C>A	ENST00000261383.3	-	59	11607	c.11608G>T	c.(11608-11610)Gaa>Taa	p.E3870*	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3870					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TTCATGGATTCTTCATAGACC	0.488																																						ENST00000261383.3																			0				NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(11608-11610)Gaa>Taa		dynein, axonemal, heavy chain 3							276.0	261.0	266.0					16																	20952769		2201	4300	6501	SO:0001587	stop_gained	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:20952769C>A	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.11608G>T	16.37:g.20952769C>A	ENSP00000261383:p.Glu3870*					DNAH3_ENST00000415178.1_3'UTR	p.E3870*	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	59	11607	-			3870					O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Nonsense_Mutation	SNP	ENST00000261383.3	37	c.11608G>T	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	C	53	20.687883	0.99933	.	.	ENSG00000158486	ENST00000261383	.	.	.	5.67	5.67	0.87782	.	0.065669	0.64402	D	0.000017	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	19.7728	0.96373	0.0:1.0:0.0:0.0	.	.	.	.	X	3870	.	ENSP00000261383:E3870X	E	-	1	0	DNAH3	20860270	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.776000	0.85560	2.687000	0.91594	0.655000	0.94253	GAA		0.488	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		144	473	1	0	1.70343e-82	1	1.8099e-82	144	473				
CRNN	49860	broad.mit.edu	37	1	152382519	152382519	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr1:152382519T>C	ENST00000271835.3	-	3	1101	c.1039A>G	c.(1039-1041)Act>Gct	p.T347A	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	347	Gln-rich.				response to heat (GO:0009408)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTATCTGAGTGTGTCCTCCT	0.592																																						ENST00000271835.3																			0				breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(1039-1041)Act>Gct		cornulin							234.0	198.0	210.0					1																	152382519		2203	4300	6503	SO:0001583	missense	49860				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding	g.chr1:152382519T>C	AF077831	CCDS1010.1	1q21	2014-01-28	2005-06-13	2005-06-13	ENSG00000143536	ENSG00000143536		"""EF-hand domain containing"""	1230	protein-coding gene	gene with protein product		611312	"""chromosome 1 open reading frame 10"""	C1orf10		11056050, 15854041	Standard	NM_016190		Approved	SEP53	uc001ezx.2	Q9UBG3	OTTHUMG00000012383	ENST00000271835.3:c.1039A>G	1.37:g.152382519T>C	ENSP00000271835:p.Thr347Ala					RP1-91G5.3_ENST00000411804.1_RNA	p.T347A	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	1101	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		347			Gln-rich.		B2RE60|Q8N613	Missense_Mutation	SNP	ENST00000271835.3	37	c.1039A>G	CCDS1010.1	.	.	.	.	.	.	.	.	.	.	T	2.400	-0.337775	0.05278	.	.	ENSG00000143536	ENST00000271835	T	0.04119	3.7	4.83	-9.65	0.00537	.	3.275770	0.00559	N	0.000263	T	0.00468	0.0015	N	0.04508	-0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41556	-0.9502	10	0.13853	T	0.58	.	4.7627	0.13116	0.1864:0.4725:0.0905:0.2506	.	347	Q9UBG3	CRNN_HUMAN	A	347	ENSP00000271835:T347A	ENSP00000271835:T347A	T	-	1	0	CRNN	150649143	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.505000	0.00448	-2.995000	0.00278	-1.994000	0.00447	ACT		0.592	CRNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034503.1	NM_016190		5	383	0	0	0	1	0	5	383				
NCR2	9436	broad.mit.edu	37	6	41304075	41304075	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr6:41304075delG	ENST00000373089.5	+	2	391	c.303delG	c.(301-303)gagfs	p.E102fs	NCR2_ENST00000373083.4_Frame_Shift_Del_p.E102fs|NCR2_ENST00000373086.3_Frame_Shift_Del_p.E102fs	NM_004828.3	NP_004819.2	O95944	NCTR2_HUMAN	natural cytotoxicity triggering receptor 2	102	Ig-like.				cellular defense response (GO:0006968)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	14	Ovarian(28;0.0327)|Colorectal(47;0.196)					ATCTGAGAGAGGAAGACTCAG	0.517																																						ENST00000373083.4																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	14						c.(301-303)gafs		natural cytotoxicity triggering receptor 2							95.0	88.0	90.0					6																	41304075		2203	4300	6503	SO:0001589	frameshift_variant	9436				cellular defense response	integral to plasma membrane	transmembrane receptor activity	g.chr6:41304075delG	AJ225109	CCDS4855.1, CCDS56428.1, CCDS56429.1	6p21.1	2013-01-11	2002-11-13	2002-11-15	ENSG00000096264	ENSG00000096264		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	6732	protein-coding gene	gene with protein product		604531	"""lymphocyte antigen 95 (activating NK-receptor; NK-p44)"""	LY95		10049942	Standard	NM_004828		Approved	NK-p44, CD336	uc003oqh.2	O95944	OTTHUMG00000014678	ENST00000373089.5:c.303delG	6.37:g.41304075delG	ENSP00000362181:p.Glu102fs					NCR2_ENST00000373086.3_Frame_Shift_Del_p.E102fs|NCR2_ENST00000373089.5_Frame_Shift_Del_p.E102fs	p.E102fs	NM_001199510.1	NP_001186439.1	O95944	NCTR2_HUMAN			2	525	+	Ovarian(28;0.0327)|Colorectal(47;0.196)		102			Ig-like.		Q9H562|Q9H563|Q9H564|Q9UMT1|Q9UMT2	Frame_Shift_Del	DEL	ENST00000373089.5	37	c.303delG	CCDS4855.1																																																																																				0.517	NCR2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040511.3			7	189						7	189	---	---	---	---
STAG3L4	64940	broad.mit.edu	37	7	66772494	66772495	+	RNA	INS	-	-	T	rs113583073|rs570577444	byFrequency	TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr7:66772494_66772495insT	ENST00000416602.2	+	0	362					NR_040586.1		Q8TBR4	ST3L4_HUMAN	stromal antigen 3-like 4 (pseudogene)											endometrium(2)|lung(5)	7		Lung NSC(55;0.0839)|all_lung(88;0.181)				TGCTTGATTCCTTTTTTTTTTT	0.426													|||unknown(HR)	843	0.168331	0.1596	0.1023	5008	,	,		24061	0.3006		0.1213	False		,,,				2504	0.1391					ENST00000416602.2																			0				endometrium(2)|lung(5)	7																																														0							g.chr7:66772494_66772495insT			7q11.21	2013-06-26	2013-06-26		ENSG00000106610	ENSG00000106610			33887	pseudogene	pseudogene			"""stromal antigen 3-like 4"""				Standard	NR_040585		Approved	FLJ13195, STAG3L4P	uc010laj.3	Q8TBR4	OTTHUMG00000156920		7.37:g.66772505_66772505dupT								NR_040586.1		Q8TBR4	STG34_HUMAN			0	362	+		Lung NSC(55;0.0839)|all_lung(88;0.181)						Q9H8W0	RNA	INS	ENST00000416602.2	37																																																																																						0.426	STAG3L4-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000346611.1	NM_022906		2	4						2	4	---	---	---	---
CLDN23	137075	broad.mit.edu	37	8	8560665	8560665	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr8:8560665delC	ENST00000519106.1	+	1	1218	c.757delC	c.(757-759)cggfs	p.R253fs		NM_194284.2	NP_919260.2	Q96B33	CLD23_HUMAN	claudin 23	253					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(2)	2		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.071)|READ - Rectum adenocarcinoma(644;0.238)		GCCGCGGCCGCGGCCCAAGGC	0.706																																						ENST00000519106.1																			0				endometrium(2)	2						c.(757-759)ggfs		claudin 23							5.0	8.0	7.0					8																	8560665		1879	3938	5817	SO:0001589	frameshift_variant	137075				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr8:8560665delC	AK123547	CCDS55195.1	8p23.1	2006-04-12				ENSG00000253958		"""Claudins"""	17591	protein-coding gene	gene with protein product		609203				12736707	Standard	NM_194284		Approved	CLDNL	uc003wsi.3	Q96B33		ENST00000519106.1:c.757delC	8.37:g.8560665delC	ENSP00000428780:p.Arg253fs						p.R253fs	NM_194284.2	NP_919260.2	Q96B33	CLD23_HUMAN		COAD - Colon adenocarcinoma(149;0.071)|READ - Rectum adenocarcinoma(644;0.238)	1	1218	+		Hepatocellular(245;0.217)	253					Q08AJ3	Frame_Shift_Del	DEL	ENST00000519106.1	37	c.757delC	CCDS55195.1																																																																																				0.706	CLDN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374721.1	NM_194284		3	6						3	6	---	---	---	---
ZNF503	84858	broad.mit.edu	37	10	77161101	77161106	+	In_Frame_Del	DEL	CCGCCT	CCGCCT	-	rs533859340|rs374168185	byFrequency	TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr10:77161101_77161106delCCGCCT	ENST00000372524.4	-	1	558_563	c.72_77delAGGCGG	c.(70-78)ggaggcggc>ggc	p.24_26GGG>G	ZNF503-AS2_ENST00000486015.1_RNA|ZNF503-AS2_ENST00000425916.3_RNA|ZNF503_ENST00000535216.1_In_Frame_Del_p.24_26GGG>G|RP11-399K21.11_ENST00000418818.2_lincRNA|ZNF503-AS2_ENST00000466942.2_RNA	NM_032772.4	NP_116161.2	Q96F45	ZN503_HUMAN	zinc finger protein 503	24	Gly-rich.				G1 to G0 transition involved in cell differentiation (GO:0070315)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|neural precursor cell proliferation (GO:0061351)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			lung(4)|ovary(1)|skin(1)	6	all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088)					GTCTGCAccgccgcctccgcctccgc	0.718														484	0.0966454	0.3336	0.0331	5008	,	,		10238	0.0		0.006	False		,,,				2504	0.0143					ENST00000372524.4																			0				lung(4)|ovary(1)|skin(1)	6						c.(70-78)ggc>gg		zinc finger protein 503				455,1781		166,123,829						2.8	0.0		dbSNP_120	4	28,4994		4,20,2487	no	coding	ZNF503	NM_032772.4		170,143,3316	A1A1,A1R,RR		0.5575,20.3488,6.6547				483,6775				SO:0001651	inframe_deletion	84858				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr10:77161101_77161106delCCGCCT	AK127647	CCDS7350.1	10q22.3	2011-02-09			ENSG00000165655	ENSG00000165655		"""Zinc fingers, C2H2-type"""	23589	protein-coding gene	gene with protein product		613902				12477932	Standard	NM_032772		Approved	FLJ45745, MGC2555	uc001jxg.3	Q96F45	OTTHUMG00000018526	ENST00000372524.4:c.72_77delAGGCGG	10.37:g.77161107_77161112delCCGCCT	ENSP00000361602:p.Gly26_Gly27del					ZNF503_ENST00000535216.1_In_Frame_Del_p.GGG24del	p.GGG24del	NM_032772.4	NP_116161.2	Q96F45	ZN503_HUMAN			1	558_563	-	all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088)		24			Gly-rich.		Q8NAC5|Q96E25|Q96IJ0	In_Frame_Del	DEL	ENST00000372524.4	37	c.72_77delAGGCGG	CCDS7350.1																																																																																				0.718	ZNF503-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048826.1	NM_032772		3	5						3	5	---	---	---	---
FLT1	2321	broad.mit.edu	37	13	28919605	28919605	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr13:28919605delG	ENST00000282397.4	-	16	2583	c.2332delC	c.(2332-2334)ctcfs	p.L778fs	FLT1_ENST00000540678.1_5'UTR	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	778					blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CGGATAAAGAGGGTTAATAGG	0.413																																						ENST00000282397.4																			0				NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115						c.(2332-2334)tcfs		fms-related tyrosine kinase 1	Sunitinib(DB01268)						57.0	55.0	55.0					13																	28919605		2203	4300	6503	SO:0001589	frameshift_variant	2321				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	g.chr13:28919605delG	AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3763	protein-coding gene	gene with protein product	"""vascular endothelial growth factor receptor 1"", ""vascular permeability factor receptor"""	165070	"""fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"""	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.2332delC	13.37:g.28919605delG	ENSP00000282397:p.Leu778fs					FLT1_ENST00000540678.1_5'UTR	p.L778fs	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	16	2583	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	778					A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Frame_Shift_Del	DEL	ENST00000282397.4	37	c.2332delC	CCDS9330.1																																																																																				0.413	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1			12	29						12	29	---	---	---	---
LOC63930	63930	broad.mit.edu	37	20	61680623	61680625	+	lincRNA	DEL	TCC	TCC	-			TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr20:61680623_61680625delTCC	ENST00000607802.1	+	0	91				LINC01056_ENST00000455711.1_lincRNA	NR_033370.1																						ctcctcctcttcctcctcctcct	0.606																																						ENST00000607802.1																			0																																																			0							g.chr20:61680623_61680625delTCC																													20.37:g.61680632_61680634delTCC						RP11-305P22.5_ENST00000455711.1_lincRNA		NR_033370.1						0	91	+									RNA	DEL	ENST00000607802.1	37																																																																																						0.606	RP11-305P22.9-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000470475.1			2	4						2	4	---	---	---	---
RP13-228J13.1	0	broad.mit.edu	37	X	154578864	154578865	+	RNA	DEL	TG	TG	-	rs150846040|rs563910	byFrequency	TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chrX:154578864_154578865delTG	ENST00000412436.1	-	0	98				RP13-228J13.1_ENST00000444722.1_RNA|RP13-228J13.5_ENST00000453508.1_RNA																							GTTTTCTCTCTGTTTTTTTTTT	0.416																																						ENST00000412436.1																			0																																																			0							g.chrX:154578864_154578865delTG																													X.37:g.154578864_154578865delTG						RP13-228J13.5_ENST00000453508.1_RNA|RP13-228J13.1_ENST00000444722.1_RNA								0	98	-									RNA	DEL	ENST00000412436.1	37																																																																																						0.416	RP13-228J13.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000058799.1			4	4						4	4	---	---	---	---
